#Sickle cell major syndrome

[jcrmhscasereports]

Sickle cell nephropathy, a complication not to be ignored, through a Moroccan case by Asmaa Biaz in Journal of Clinical Case Reports Medical Images and Health Sciences 

SUMMARY

Nephropathy is a major complication of sickle cell disease. Indeed, the kidneys are particularly sensitive organs to this disease.

We report a case of a patient with a major sickle cell syndrome; she was hospitalized in the nephrology department of Mohammed V Military Training Hospital, forend-stage renal failure. The family investigation revealed a composite S/O-Arab heterozygosity responsible for the severity of the clinical disorder.

Key words: Sickle cell nephropathy - End stage renal failure - Sickle cell major syndrome S/O-Arab.

INTRODUCTION

Sickle cell nephropathy (SCN) is a major complication of sickle cell disease. It manifest’s in various forms, including glomerulopathy, proteinuria, hematuria, and Renal tubular disorders, and frequently results in end-stage renal disease(ESRD). Hemolysis and vascular occlusion are the main factors promoting the manifestations of this disease. Dialysis and renal transplantation are the last resort for patient with SCN [1].

Through the case of a patient with a major sickle cell syndrome S/O-Arab complicated by end-stage renal failure, we will explain the pathophysiological mechanisms of this complication and emphasize the importance of biological monitoring.

CASE REPORT

The patient was 24 years old and was admitted to the nephrology department of the Mohammed V Military Training Hospital for incidental renal failure in the context of an impure nephrotic syndrome revealing sickle cell nephropathy. In his history, we retained a

follow-up since the age of 5 years in another hospital structure for a hemoglobinosis S treated by iterative transfusions with notion of acute renal failure during sickle cell crises.

The biological result showed an anemia at 7.7 g/dL, corrected serum calcium at 82 mg/L, serum phosphorus at 64 mg/L, intact parathyroid hormone 1-84 at 543 pg/L, Alkaline Phosphatase at 201 U/L.

Hemoglobin electrophoresis was ordered to this patient, but due to repeated transfusions, her electrophoretic profile remains uninterpretable (Figure 1). Therefore, hemoglobin electrophoresis (HBE) was performed in the parents as part of the hemoglobin phenotypic study. The HBE of both parents is performed on Capillarys (Sebia®) at alkaline pH followed by electrophoresis at acidic pH on Hydrasys (Sebia®) which showed a heterozygous Hb O-Arab variant in the mother (Figure 2) and a heterozygous hemoglobinosis S (A/S) in the father (Figure 3).

Figure 1: Electrophoretic profile of the patient uninterpretable due to recent transfusion

Figure 2: Electrophoretic profile of the mother showing hemoglobinosis O-Arab in the heterozygous state

Figure 3: Electrophoretic profile of the father showing hemoglobinosis S in the heterozygous state

Referring to the phenotypic study of Hb performed in the parents, it is concluded that the patient has a composite heterozygosity S/O-Arab explaining the severity of the renal manifestations.

The evolution was marked by the absence of improvement of her renal function and the aggravation of the uremic syndrome motivating her setting in peritoneal dialysis. The patient was treated with erythropoietin ARANESP 30µg/ per 2 weeks with a blood transfusion of 2 packed red blood cells on average every two months.

The patient died at the age of 26 years before benefiting from either a hemoglobin genotyping study or a renal transplant.

DISCUSSION

Sickle cell disease is the most common hereditary hemoglobinopathy in the world. An estimated 300,000 children are born with this disease each year, three quarters of whom are born in sub-Saharan Africa [2]. It is characterized by extreme variability in terms of clinical manifestations, the most serious of which are renal manifestations.

The association S/O Arab is responsible for a major sickle cell syndrome, as in the case of our patient. Indeed, Hb O Arab stabilizes the intracellular polymerization of Hb S and leads to an irreversible sickle cell disease of red blood cells, thus expressing by a more severe clinical disorder. The clinical and biological manifestation of this association is similar to homozygous sickle cell disease and the association Hb S / Hb D Punjab. The onset is usually early, in infancy, and is marked by the classic triad of chronic hemolysis: anemia, jaundice and splenomegaly. Anemia is usually moderate outside of hemolytic attacks (Hb = 7 - 10 g/dL). The evolution is often marked by sickle cell complications. Osteoarticular complications are the most frequent, such as vaso-occlusive crises, septic arthritis and osteoporosis. Pneumonia, leg ulcers and vesicular lithiasis are also reported [3].

Sickle cell nephropathy is a major complication of sickle cell disease. The kidneys are particularly sensitive organs to the disease. Sickle cell disease substantially alters the structure and function of the kidneys and is the cause of several renal diseases and syndromes. Renal damage is more severe in SS homozygous patients than in other major sickle cell syndromes [4]. Approximately 5-18% of patients have SCN, thus increasing the risk of morbidity and mortality of the disease [5].

A number of studies have focused on this pathology, its evolution includes several stages; it starts with hyperfiltration, then the occurrence of microalbuminuria, then macroalbuminuria and finally the progression to renal failure. The prevalence of these complications increases with the age of the patients but can also be seen from a young age.

Two models have been proposed to explain the pathophysiology of SCN. Becker et al. showed that prostaglandin release following ischemic injury causes an increase in glomerular filtration rate (GFR). This increase leads to glomerular injury and eventually manifests as proteinuria and glomerulosclerosis [6]. Alternatively, Nath and Katusic [7] classified the manifestations of SCN into two different phenotypes: the hemolysis-endothelial dysfunction phenotype and the viscosity-vaso-occlusive phenotype. The hemolysis-endothelial dysfunction phenotype affects the renal cortex and leads to hyperfiltration and glomerulopathy; heme released due to intravascular hemolysis predisposes to proteinuria through its accumulation on the glomerular filtration barrier, which disrupts membrane selectivity by exerting cytotoxic effects on podocytes and endothelial cells [8]. On the other hand, the viscosity-vaso-occlusive phenotype is responsible for hematuria, papillary necrosis, and tubular acidosis [9].

Microalbuminuria, reflecting the early stages of renal damage, should be routinely sought in the follow-up assessment in this category of patients.

Decreased GFR, which suggests loss of kidney function, occurs with the progression of sickle cell disease and may be a sign of uncontrolled disease. Sickle cell patients have a higher risk of developing chronic kidney disease compared to the general population.

Specific treatment with an angiotensin-converting enzyme inhibitor or an angiotensin II

receptor antagonist should be considered in these patients in order to slow the progression of the renal disease. The prevention of microthrombosis and thus of renal damage requires the maintenance of a hemoglobin A level of more than 50% by regular blood transfusion as soon as sickle cell disease is diagnosed. The role of hydroxyurea in the prevention and/or treatment of renal function abnormalities in sickle cell disease remains to be studied [10].

CONCLUSION

Sickle cell nephropathy is a major complication of sickle cell disease. It must be systematically and early sought in all sickle cell patients to reduce the risk of morbidity and mortality of this disease.

The development of new biomarkers has become increasingly essential for the early detection of sickle cell disease in order to improve the survival of patients with sickle cell disease.

Declaration of interest:

The authors declare no conflict of interest.

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[transmutationisms]

this hasn't happened to me in a long while, but when I was a kid getting weighed I remember a doctor pulling out a separate BMI chart for Asians with lower cutoffs. this was around a decade ago. no doctors have done this since. is that like, normal? or in any way meaningful?

'normal', unfortunately yes---I don't know that I've heard of doctors actually making up charts for this but it is a commonly held belief among physicians and epidemiologists that BMI cutoffs should be lower for Asians than for whites, because Asians supposedly have higher rates of weight-correlated adverse health outcomes (diabetes, CVD, &c) at the same BMIs.

meaningful is a different matter. there are two major and really damning issues with this belief:

firstly, the (handful of) studies documenting this disparity have all the same issues as any other medical literature on weight and health. we don't actually have good evidence to say that weight causes these health outcomes; it's difficult to disentangle environmental factors, or the fact that disease can often cause the weight gain itself, as in the case of diabetes or 'metabolic syndrome'. weight stigma, not interchangeable with weight itself, has a massive and documented negative effect on health outcomes. also, as far as I can tell, most if not all of the studies on this particular question seem to have been done using Asian-American subjects specifically, so that opens a whole host of further statistical ambiguities: you're talking about immigrant populations in the US. physicians love to interpret shit like this as evidence of biological racial differences instead of probing questions like: does this suggest that Asian immigrants to the US are subjected to forms of marginalisation that cause particular health effects? and the usual critiques of weight science include the problem that long-term deliberate weight loss is not achievable for th vast majority of people save through the development of behaviours that would otherwise be identified as eating-disordered, so BMI chart cutoffs are of pretty limited value for individual health guidance even if we were confident in their causal relationships.

secondly, and arguably even more fundamentally, any data that purport to differentiate people on the basis of race are data that are using an invented social category, not a 'natural' or biological one. there are absolutely health outcomes and conditions that affect different populations at different rates or with varying effects. but 'Asian' is not a coherent category genetically, epigenetically, historically, physiologically, or anything else. it's no more a 'real' biological grouping of people than 'white' or any other racial category. these are social designations, they're not biological facts. medicine that purports to display sensitivity to marginalised groups by reifying the biological ideology that defines them is reactionary at its core, and is not even solving the problems people think it is. when we lean on the idea of racial health disparities, we're basically relying on a crude average of a whole bunch of different people and groups who have been socially slotted into one 'race' category. this doesn't help people; on the contrary, it often obscures the actual rates of particular health issues in different populations: for example, the gene responsible for sickle cell anemia is common in families from many parts of the world, and sickle cell anemia is not a 'race-based disease' but an inherited genetic disorder. the allure of 'innate racial differences' as an etiological explanation is still pervasive and pernicious in medicine as elsewhere. Rana Hogarth talks about this in the epilogue to Medicalising Blackness, and I've also heard Iris Clever discuss it in conferences, although to my knowledge her published work focusses more on the epistemological architecture of genetic and anthropological databases. anyway my point is that, even if we solved all the issues raised in part 1 above and were confident that we had indeed pinpointed BMI cutoffs causally linked to adverse health effects, it still would be harmful and not helpful to set these cutoffs on the basis of 'race', which is a social system of categorisation and marginalisation and has no biological basis or 'natural' justification.

[bunnywip]

𝘼-𝙕 𝙇𝙄𝙎𝙏 𝙊𝙁 𝘿𝙄𝙎𝙀𝘼𝙎𝙀𝙎/𝙄𝙇𝙇𝙉𝙀𝙎𝙎𝙀𝙎 𝙁𝙊𝙍 𝙎𝙄𝘾𝙆𝙁𝙄𝘾/𝙒𝙃𝙐𝙈𝙋

— A

Anemia.

Adenomyosis.

Asthma.

Arterial thrombosis.

Allergies.

Anxiety.

Angel toxicosis ( fictional ).

Acne.

Anorexia nervosa.

Anthrax.

Atma virus ( fictional ).

ADHD.

Agoraphobia.

Astrocytoma.

AIDS.

— B

Breast cancer.

Bunions.

Borderline personality disorder.

Botulism.

Barrett's esophagus.

Bowel polyps.

Brucellosis.

Bipolar disorder.

Bronchitis.

Bacterial vaginosis.

Binge eating disorder.

— C

Crohn's disease.

Conjunctivitis.

Coronavirus disease.

Coeliac disease.

Chronic migranes.

Coup.

Cushing syndrome.

Cystic fibrosis.

Cellulitis.

Coma.

Cooties  ( fictional ).

COPD.

Chickenpox.

Cholera.

Cerebral palsy.

Chlamydia.

Constipation.

Cancer.

Common cold.

Chronic pain.

— D

Diabetes.

Dyslexia.

Dissociative identify disorder.

Dengue fever.

Delirium.

Deep vein thrombosis.

Dementia.

Dysthimia.

Diphtheria.

Diarrhoea.

Disruptive mood dysregulation disorder.

Dyspraxia.

Dehydration.

— E

Ebola.

Endometriosis.

Epilepsy.

E-coli.

Ectopic pregnancy.

Enuresis.

Erectile dysfunction.

Exzema.

— F

Fusobacterium infection.

Filariasis.

Fibromyalgia.

Fascioliasis.

Fever.

Food poisoning.

Fatal familial insomnia.

— G

Gonorrhoea.

Ganser syndrome.

Gas gangrene.

Giardiasis.

Gastroesophageal reflux disease.

Gall stones.

Glandular fever.

Greyscale ( fictional ).

Glanders.

— H

Hookworm infection.

Hand, foot and mouth disease.

Hypoglycaemia.

Herpes.

Headache.

Hanahaki disease ( fictional ).

Hyperhidrosis.

Heat stroke.

Heat exhaustion.

Heart failure.

High blood pressure.

Human papillomavirus infection.

Hypersomnia.

HIV.

Heart failure.

Hay fever.

Hepatitis.

Hemorrhoids.

— I

Influenza.

Iron deficiency anemia.

Indigestion.

Inflammatory bowel disease.

Insomnia.

Irritable bowel syndrome.

Intercranial hypertension.

Impetigo.

— K

Keratitis.

Kidney stones.

Kidney infection.

Kawasaki disease.

Kaposi's sarcoma.

— L

Lyme disease.

Lassa fever.

Low blood pressure.

Lupus.

Lactose intolerance.

Lymphatic filariasis.

Leprosy.

— M

Measles.

Mad cow disease.

Mumps.

Major depressive disorder.

Malaria.

Malnutrition.

Motor neurone disease.

Mutism.

Mouth ulcer.

Monkeypox.

Multiple sclerosis.

Meningitis.

Menopause.

Mycetoma.

— N

Norovirus.

Nipah virus infection.

Narcolepsy.

Nosebleed.

Nocardiosis.

— O

Obsessive-compulsive disorder.

Osteoporosis.

Ovarian cyst.

Overactive thyroid.

Oral thrush.

Otitis externa.

— P

Pancreatic cancer.

Pneumonia.

Pelvic inflammatory disease.

PICA.

Premenstrual dysphoric disorder.

Psoriasis.

Parkinson's disease.

Panic disorder.

Polycystic ovarian syndrome.

Plague.

Postpartum depression.

Pediculosis capitis.

Psychosis.

Post-traumatic stress disorder.

— Q

Q fever.

Quintan fever.

— R

Rubella.

Rabbit fever.

Rotavirus infection.

Ringworm.

Restless legs syndrome.

Rhinovirus infection.

Rosacea.

Relapsing fever.

Rheumatoid arthritis.

Rabies.

— S

Shingles.

Sore throat.

Stutter.

Separation anxiety disorder.

Smallpox.

Scoliosis.

Septic shock.

Shigellosis.

Sepsis.

Social anxiety disorder.

Stroke.

Scarlet fever.

Schizophrenia.

Sleep apnea.

Sun burn.

Syphilis.

Sickle cell disease.

Scabies.

Selective mutism.

Salmonella.

Sensory processing disorder.

— T

Thyroid cancer.

Tuberculosis.

Thirst.

Trichuriasis.

Tinea pedis.

Tourette's syndrome.

Trachoma.

Tetanus.

Toxic shock syndrome.

Tinnitus.

Thyroid disease.

Typhus fever.

Tonsillitis.

Thrush.

— U

Urinary tract infection.

Underactive thyroid.

— V

Valley fever.

Vertigo.

Vomiting.

— W

White piedra.

Withdrawal.

Whooping cough.

West nile fever.

— X

Xerophthalmia.

— Y

Yersiniosis.

Yellow fever.

— Z

Zygomycosis.

Zika fever.

Zeaspora.

[alicesara611]

Inhaled Nitric Oxide's Impact on Healthcare: A By 2023 to 2030 Analysis

The global inhaled nitric oxide market size is predicted to grow to around US$ 1,520 million by 2030 with a compound annual growth rate (CAGR) of roughly 7.7% between 2023 and 2030. Inhaled nitric oxide (iNO) is a colorless and odorless gas that is used in medical applications to improve lung function. It is typically administered to patients with pulmonary hypertension (PH), a condition characterized by high blood pressure in the lungs. iNO works by relaxing the smooth muscle cells in the lungs, which helps to widen the airways and improve blood flow.

The global healthcare industry has witnessed remarkable advancements in recent years, with cutting-edge therapies and treatments continuously evolving to improve patient outcomes. Inhaled Nitric Oxide (iNO) is one such innovation that has gained significant attention for its potential in treating a wide range of medical conditions. This blog post explores the Inhaled Nitric Oxide market from 2023 to 2030, shedding light on its current status, potential growth factors, and the impact it may have on the healthcare landscape.

Get Recently Updated Report of Market as Sample Copy! https://absolutemarketresearch.com/Global-Inhaled-Nitric-Oxide-Market/2036/request-sample

Inhaled Nitric Oxide is a colorless and odorless gas with various applications in healthcare. It is a vasodilator that relaxes blood vessels, making it easier for blood to flow through them. This property has made iNO a valuable tool in treating various medical conditions, particularly those related to pulmonary and cardiovascular health.

Applications of Inhaled Nitric Oxide:

Neonatal Hypoxic Respiratory Failure: Inhaled Nitric Oxide is used to treat newborns with respiratory issues, such as persistent pulmonary hypertension. It helps improve oxygenation and reduce the need for more invasive interventions.

Adult Respiratory Distress Syndrome (ARDS): iNO has shown promise in the treatment of ARDS, a severe lung condition often associated with COVID-19. It can improve oxygenation and reduce the need for mechanical ventilation.

Pulmonary Hypertension: iNO is used to manage pulmonary hypertension, a condition where the blood vessels in the lungs are narrowed, causing increased pressure in the pulmonary arteries.

Market Trends and Growth Factors:

Increased Prevalence of Respiratory Disorders: The rising incidence of respiratory disorders, particularly in neonates and adults, is a major driver for the Inhaled Nitric Oxide market. As pollution, lifestyle factors, and infectious diseases continue to impact respiratory health, the demand for iNO is expected to rise.

Technological Advancements: Ongoing research and development in the field of medical gases and delivery systems have led to more efficient and safer methods of administering Inhaled Nitric Oxide. These innovations are expected to boost market growth.

Expanding Applications: The potential applications of iNO are continuously expanding, with ongoing clinical trials exploring its effectiveness in treating other conditions, such as chronic obstructive pulmonary disease (COPD) and sickle cell disease.

Regulatory Approvals: As more countries grant regulatory approvals for the use of Inhaled Nitric Oxide in a wider range of medical conditions, it is anticipated that market growth will accelerate.

Key Takeaways:

The global inhaled nitric oxide (INO) market is expected to reach US$ 1,520 million by 2030, growing at a CAGR of 7.7% from 2023 to 2030.

The increasing prevalence of respiratory diseases, such as pulmonary hypertension and acute respiratory distress syndrome (ARDS), is driving the growth of the market.

The North American region is expected to hold the largest market share during the forecast period, due to the high prevalence of respiratory diseases and the presence of key market players in the region.

Asia Pacific is expected to be the fastest-growing market, due to the increasing disposable incomes and the growing awareness of the benefits of INO therapy.

Regional Outlook:

North America: The North American region is expected to hold the largest market share during the forecast period, due to the high prevalence of respiratory diseases and the presence of key market players in the region.

Europe: The European region is expected to be the second-largest market during the forecast period, due to the well-developed healthcare infrastructure and the increasing adoption of INO therapy.

Asia Pacific: Asia Pacific is expected to be the fastest-growing market, due to the increasing disposable incomes and the growing awareness of the benefits of INO therapy.

Latin America: The Latin American region is expected to grow at a moderate pace during the forecast period, due to the limited access to healthcare facilities and the low penetration of INO therapy.

Middle East and Africa (MEA): The MEA region is expected to grow at a slow pace during the forecast period, due to the limited awareness of the benefits of INO therapy and the lack of infrastructure.

Key Players:

Abbott Laboratories

Air Liquide Healthcare

Linde Healthcare

Praxair Healthcare

GCX Technologies

Cosmed

Meissner

INO Therapeutics

Segmentation:

By Application:

Pulmonary Hypertension

Acute Respiratory Distress Syndrome (ARDS)

Other Applications

By Delivery System:

Nasal Cannula

Face Mask

Ventilator

By Region:

North America

Europe

Asia Pacific

Latin America

Middle East and Africa (MEA)

[emaanderson]

Molecular Robots Market Analysis Focus on Leading Key Players and Revenue Growth Analysis by Forecast Till 2030

Research Nester published a report titled “Molecular Robots Market: Global Demand Analysis & Opportunity Outlook 2030” which delivers detailed overview of the global molecular robots market in terms of market segmentation by technology, application, end-user industry, and by region.

Further, for the in-depth analysis, the report encompasses the industry growth indicators, restraints, supply and demand risk, along with detailed discussion on current and future market trends that are associated with the growth of the market.

The global molecular robots market is anticipated to garner a revenue of USD 1880 million by 2030 and grow with a CAGR of ~18% a substantial CAGR over the forecast period, i.e., 2021-2030. The market is segmented on the basis of application into drug discovery, genetic research, and others, out of which, the drug discovery segment is foreseen to hold a major share during the forecast period, owing to the demand for new treatment solutions for rare diseases. 

 By end-user industry, the market is segmented into chemical, pharmaceutical, and others, out of which the pharmaceutical segment is expected to hold a notable share in the market during the forecast period owing to the increasing investment by the pharmaceutical companies in research and development of new drugs.

The global molecular robots market is estimated to grow on the back of increasing demand for new treatment and drugs for rare diseases, including Alzheimer’s disease, sickle cell diseases, and cancer. Growing applications for molecular robots in studying complex chemical reaction and genetics, is also estimated to drive the market growth. Moreover, advances in the robotics and automation technology, is estimated to boost the market growth.

Request Sample For More Information @ https://www.researchnester.com/sample-request-3108

Regionally, the global molecular robots market is segmented into five major regions including North America, Europe, Asia Pacific, Latin America and Middle East & Africa region. The market in the North America is estimated to gain the largest share owing to the presence of advanced technology, along with high investment for development of innovative technology. U.S., invested over USD 180 billion in drug development for diseases, such as, Alzheimer’s disease, cancer, and heart stroke, in 2018. 

Moreover, the increasing healthcare expenditure and R&D activities, is further expected to boost the market growth. As per the data by the World Health Organization (WHO), 16.416 % of the GDP of North America was spent on the healthcare sector in 2018. The market in the Asia Pacific region is projected to witness notable CAGR over the forecast period owing to the increasing technological development in automation and robotics, growing healthcare and medical research industry, along with economic development in the region.

Increasing Demand for New Treatment Solutions for Genetic Diseases to boost the Market Growth

Various genetic diseases, such as Downes syndrome, sickle cell diseases, FAB, DiGeorge syndrome, among others, have no known cure. Additionally, the exact cause of these diseases is also unknown, which had increased the opportunity for research and development in this direction. Use of molecular robots is beneficial is studying genetic mutation at the molecular level. This is estimated to significantly boost the market growth. 

However, high cost of production of these robots is expected to operate as key restraint to the growth of global molecular robots market over the forecast period.

This report covers the research and development made by various research teams of major universities, including Harvard University, in the global molecular robots market. The production of molecular robots has not attained a commercial level due to the very high cost of production.

 However, various key players of nanorobotics, including players, such as Nanorobotics Ltd., Molecular Robotics, and others, along with players working with artificial intelligence technologies are expected to enter the molecular robotics market in the upcoming years. The profiling enfolds key information of the companies which encompasses business overview, products and services, key financials and recent news and developments. On the whole, the report depicts detailed overview of the global molecular robots market that will help industry consultants, equipment manufacturers, existing players searching for expansion opportunities, new players searching possibilities and other stakeholders to align their market centric strategies according to the ongoing and expected trends in the future.

Request Sample For More Information @ https://www.researchnester.com/sample-request-3108

[medicaltourforhealth]

Pre-Implantation Genetic Testing (PGDT) And Its Role in IVF Babies

From a haploid cell to a multicellular complex organism; pregnancy, gestation, and birth are events that are nothing short of a biological miracle.

It was less than five decades ago that IVF infused a new hope in the lives of millions of couples who could not conceive naturally. However, the unperceived, intangible health and psychological strain that accompanies an IVF procedure because of the uncertainty factor, is best compensated only with a successful procedure and conception.

The best news is that in this world of consolidated global intelligence- medical science, embryology, and gynaecological genetics supplemented with unflagging innovations, have led to procedures, methods and treatments that were once unimaginable. This reliable path to identify and tweak the course of this ever so complex process has made life much easier for couples looking for a solution for infertility, thus leaving less to chance and peril.

WHAT IS PREIMPLANTATION GENETIC DIAGNOSIS?

Pre-implantation genetic diagnosis (PGD) is a genetic testing procedure that is used to identify genetic anomalies in embryos formed using IVF technique, before the embryo is placed in the uterus, to reduce the risk of passing on any genetic diseases.  

BRIEF HISTORY:

Pre-implantation Genetic diagnosis was first performed successfully in humans in 1988- it actually finds its theoretical roots in the first Prenatal diagnosis (amniocentesis), performed in 1956. Prenatal diagnosis is only but a precursor of PGD.

It involves developing and implementing cellular, genetic, and molecular methods as well as advanced ultrasonography to reliably identify and diagnose congenital conditions by chromosomal and genetic analysis of the fetal cells.

The outcome of these advances means that more information about the fetus’s anatomy, genetic make-up, and health is available today than ever before, at the initial stage in pregnancy.

WHAT IS PREIMPLANTATION GENETIC SCREENING OR PGS?

These two terms although analogous in terms of methods and techniques, differ in principle because in preimplantation genetic screening (PGS) there is no known genetic mutation in the parents, so it is more of caution than a definitive diminution.

The fertilized eggs are screened only for aneuploidy or chromosomal number defects. Aneuploidy is a common cause for genetic disorders. Most cases of aneuploidy result in miscarriages.

HOW IS PGD DIFFERENT FROM A REGULAR GENETIC SCREENING?

The nuance here is that Preimplantation genetic diagnosis (PGD) is indicated when there is known genetic abnormality in either of the parents such as cystic fibrosis or sickle cell anemia. In such cases it becomes mandatory to perform this test on the embryo to make sure that it does not carry the anomaly.

RATIONALE

As with any medical procedure it is pertinent to ask the ‘Why’ behind it since IVF already requires considerable financial investment and PGD is an elective procedure; therefore, it is only normal to question the rationale and the need for it.  

Preimplantation Genetic diagnosis and Preimplantation Genetic Screening are the only viable methods available to avert miscarriage, medical termination of pregnancy and also helps to significantly alleviate the likelihood of having a baby afflicted with a genetic condition.

WHO NEEDS IT?

PGD is not just for couples who are infertile, but is recommended for

1) Individuals who have a known family history of a genetic condition and want to diminish the risk of severe health issues or even early death of their offspring.

2) Previous multiple miscarriages for reasons that cannot be determined.

3) Have an offspring affected by a genetic condition while the parents exhibit no signs of the genetic condition.

CONDITIONS DIAGNOSED USING PGD:

PGD should be offered for three major groups of disease:

A)    Sex-Linked disorders: such as hemophilia, fragile X syndrome, over 900 neuromuscular dystrophies, Rett syndrome, incontinentia pigmenti, pseudo hyperparathyroidism, and vitamin D–resistant rickets.

If there is a genetic aberration on the X chromosome of the mother who does not manifest a disease but is a carrier, she has a 50% chance of passing on the gene and thus the associated manifestation to her son. Conversely the same aberration on the X chromosome of the father, will manifest the disease, will have a healthy son provided the mother is not a carrier, but their daughters will have a 50% risk of being carriers if the mother is healthy and 50% chances of daughters being affected by the genetic aberration if the mother is a carrier.

B)    Single gene defects: like Cystic fibrosis, Tay-Sachs disease, sickle-cell anemia, and Huntington disease. PGD can also be utilized to identify specific mutations such as BRCA-1, which might not cause any specific disease but increases the propensity to develop a set of diseases. C)   Chromosomal Disorders: a wide variety of chromosomal number permutations combinations anomalies resulting in trisomy, monosomy, rearrangements, translocations, inversions, and deletions have led to unviable pregnancies. PGD reduces the risk of first and second trimester miscarriages drastically.

How is PGS Testing done?

BIOPSY METHODS:

Conventionally three approaches can be utilized for PGD. Although the procedure is the same, the stage at which the cells are retrieved is what sets them apart.

When the genetic screening is done on the polar body to establish the status of the oocyte or egg it is:

Method 1: Polar Body Assay

Each oocyte is associated with a ‘Polar body’, or a sister cell formed at the time of oogenesis or primitive egg formation. So, each Polar body consists of the other half of the chromosomes of its sister oocyte. This polar body is removed and put under the microscope, in the event a polar body has the mutated gene its associated oocyte is inferred to be “normal,” and therefore fit for fertilization since the resultant embryo will be unaffected by the genetic condition of concern.

This technique is infrequently used because

●      It only works to identify female chromosomal disorders.

●      Chromosomal abnormalities of the sperm cannot be studied in this procedure therefore the chromosomal architecture of the subsequent embryo is not known

Method 2: Cleavage-stage embryo biopsy OR Blastomere biopsy.

Method 3: Blastocyst stage

After initiation of an IVF cycle, multiple eggs are matured and retrieved. Each oocyte aka primitive egg cell is then inseminated by injecting a single sperm directly into the cytoplasm of the egg also known as the intracytoplasmic sperm injection. Biopsy of the cells from the resultant embryos are then done by either method two or method three.

Cleavage-stage embryo biopsy:

This is by far the most used method of the three methods. The embryo on day three is a six to ten celled structure called the blastocyst. After incubating the embryos in Calcium and Magnesium free medium to prevent cells adhering to each other, one cell is accessed and retrieved through a process called assisted hatching and studied for the genetic anomaly. Those that are cleared by the embryologist of the genetic variant are then transferred to the uterus for implantation.

The only limitation of this biopsy is that the blastomere retrieved for genetic testing may not completely represent the entire embryo due to the fact the embryo might be composed of different lines of cells aka Mosaic embryo.

Blastocyst Stage:

On the fifth day of the IVF, the embryo is the mass of more than one hundred cells, consisting of an inner cellular corpus enveloped by an outer cell mass. The outer cell mass is also known as the trophectoderm which later develops into the placenta. The cells of this trophectoderm are accessed by assisted hatching and carefully retrieved using a fine biopsy pipette, while leaving the inner cell untouched. Transferred to be studied and analysed and any embryo carrying the genetic aberration is then removed from potentially viable embryos.

Drawbacks of the blastocyst biopsy are:

●      Incorrect representation as the cells of the outer cell mass or trophectoderm might not be precise depiction of the mosaic embryo.

●      After egg retrieval the embryos are viable in the laboratory for less than six days and this biopsy is performed out on day five. Chromosomal analysis and aneuploidy testing require 24- 48 hours therefore the blastocysts need to be cryopreserved right after biopsy.

All three approaches though are highly technique sensitive and time dependent, appear to be safe. Studies have shown no increased chances of genetic or birth or growth disorders in infants born after PGD when compared to infants born after other assisted reproductive technologies.

GENETIC TESTING METHODS:

Polymerase chain reaction or DNA     amplification: A single DNA     sequence, known to carry the gene under consideration, is multiplied in an     enzymatic medium, therefore leading to rapid replication and creating     billions of the same molecule which facilitates its analysis.

It helps to identify:

●      Genetic aberrations on the autosomal chromosomes

●      Genetic aberrations in male infertility.

●      Genetic aberrations in X-linked diseases.

Fluorescence in situ hybridization or FISH: Specific chromosomes being analysed are     exposed to complementary sequences of DNA called “probes.” Each probe is     colour marked with a fluorescent dye. After introducing the biopsied cells     to these “probes,” it is then observed under a specialised microscope and     anomalies are then identified by studying and counting the colour coded     probes and their bindings. FISH is often the preferred method of genetic     analysis as it rules out any instances of contamination (paternal and     maternal). It helps to identify:

●       Trisomy or monosomy screening in women of advanced maternal age

●       Trisomy or monosomy screening for male infertility

●       Identification of sex in recessive or X-linked diseases

Recurrent miscarriages caused by parental translocations

Indicure is one the best medical tourism company in India and provides various treatment like plastic surgery, bariatric surgery, IVF treatment etc. We provide the best accommodation and travel options keeping your medical condition in mind.

[rohit890]

Newborn Screening Market Key Players, Share, Trends, Sales, Segmentation And Forecast To 2031

Market Overview

The global newborn screening market was valued at USD 1.7 billion in 2021 and it is anticipated to grow up to USD 3.7 billion by 2031, at a CAGR of 8.0% during the forecast period.

Newborn screening identifies conditions that can affect a childs long-term health or survival. This screening technology includes a series of tests essential for timely detection, early diagnosis, and health management to prevent overall disability and avert death of a child. These tests are performed shortly after the baby is born, and detect genetic, developmental, and metabolic disorders in newborn babies. Newborn screening is done by using a few drops of blood from the newborn’s heel, for certain genetic, endocrine, and metabolic disorders, and are tested for hearing loss and critical congenital heart defects (CCHDs) prior to discharge from a hospital or birthing center.

View Detailed Report Description: https://www.globalinsightservices.com/reports/newborn-screening-market/

Market Dynamics

The prevalence of newborn diseases has risen in recent years, prompting providers to raise awareness and support the demand for advanced screening instruments. Hearing, metabolic, and hormonal disorders and critical congenital heart disease are the major newborn disorders; most are treatable if diagnosed early. For instance, according to the US CDC, during 2015–2017, the prevalence of newborn disorders was 34 per 10,000 live births in the US. Approximately 12,900 infants are expected to be identified each year with a disorder. Moreover, according to the same source, the most prevalent disorders are hearing loss (16.5 per 10,000), congenital hypothyroidism (6.0 per 10,000), sickle-cell disease (4.9 per 10,000), and cystic fibrosis (1.8 per 10,000). Such scenario will propel the industry growth.

Several ethical concerns related to prenatal and new-born testing may hamper the market progression. Prenatal and new-born genetic testing raises complex ethical issues further limiting the development of clinical services and implementation of public policy related to access and funding. The use of screening in selective abortion has raised several concerns. The rising occurrence of false results in prenatal and new-born genetic testing might decrease the adoption of genetic testing. For instance, around 5% of women are tested false-positive during prenatal testing for Down syndrome.

Get Free Sample Copy of This Report: https://www.globalinsightservices.com/request-sample/GIS10337

The key players in the market are PerkinElmer (US), Demant A/S (Denmark), Natus Medical (US), Bio-Rad Laboratories (US), Danaher Corporation (US), Medtronic (Ireland), Chromsystems Instruments & Chemicals GmbH (Germany), Trivitron Healthcare (India), Baebies (US) and Recipe Chemicals+Instruments (Germany), among others.

About Global Insight Services:

Global Insight Services (GIS) is a leading multi-industry market research firm headquartered in Delaware, US. We are committed to providing our clients with highest quality data, analysis, and tools to meet all their market research needs. With GIS, you can be assured of the quality of the deliverables, robust & transparent research methodology, and superior service.

Contact Us:

Global Insight Services LLC

16192, Coastal Highway, Lewes DE 19958

E-mail: info@globalinsightservices.com

Phone: +1–833–761–1700

[chronicallyillwhore]

Name - Kailani or Lani

Age - 20

Sexuality - bisexual

pronouns - they/them

Instagram - sheluvs.lani

Snapchat - itz.lani07

My diagnoses - asthma, GERD, sickle cell trait, major depressive disorder, chronic insomnia, tremors, vocal cord dysfunction, PR (pityriasis rosea), vitamin D deficiency, chronic pain, AMPS, H-EDS, fibromyalgia, anemia, dysautonomia, BPD, dissociative amnesia, PTSD, BED, anorexia nervosa, PCOS, CFS (chronic fatigue), chronic migraines, c-ADHD, scoliosis, IBS, acid reflux, anxiety, slipping rib syndrome, sensory processing disorder, endometriosis and some others

[prabha194]

Prenatal and Newborn Genetic Testing Market Opportunity Assessment, Market Challenges, Key vendor analysis, Vendor landscape by 2027

According to The Insight Partners market research study titled “Prenatal and Newborn Genetic Testing Market - Global Analysis and Forecasts by Product, Disease Indication and End User”. The Global Prenatal and Newborn Genetic Testing Market is expected to reach US$ 11,204.7 Mn in 2027 from US$ 4,034.4 in 2018. The market is estimated to grow with a CAGR of 12.2% from 2019-2027. The report highlights the trends prevalent in the global prenatal and newborn genetic testing market and the factors driving the market along with those that act as deterrents to its growth.

The key factors that are driving the growth of the significant increase in the prevalence of genetic diseases among infants, supportive government for promoting the use of prenatal and newborn testing and increasing birth rate are boosting the market over the years. In addition, the growth opportunities in emerging markets in developing countries are likely to have a positive impact on the growth of the market in the coming years.

Request Copy of Prenatal and Newborn Genetic Testing Market Growth Report https://www.theinsightpartners.com/sample/TIPBT00002550/

Several types of genetic diseases affect the fetuses in the womb. The way in which these genetic diseases are inherited helps to determine the risk that they pose on pregnancy as well as the risk of its recurrence. The risk of having genetic diseases in babies is high in cases where the parents have another child with a genetic disease, family history of a genetic disorder, or if either of a parent has a chromosomal abnormality. There is a significant prevalence of genetic diseases among infants. Moreover, these diseases are also responsible for infant mortality across the globe. For instance, according to the World Health Organization 2016, an estimated 7.9 million infants across the world are born with genetic defects. Moreover, according to the Centers for Disease Control and Prevention (CDC), birth defects affects every 1 in 33 babies born in the US. On the other hand, chromosomal abnormalities such as Down syndrome affects 1 in 691 babies born in the US, as per the CDC’s data in 2017. Thus, the high prevalence of genetic diseases among infants account for the increasing demands for prenatal and newborn genetic tests, thereby contributing to the growth of the market.

Global Prenatal and Newborn Genetic Testing Market was segmented by product, disease indication, and end user. The product segment was further divided as diagnostic and screening. On the basis of disease indication, the market is segmented into the cystic fibrosis, sickle cell anemia, Down syndrome, phenylketonuria, and other diseases. Based on the end user, the prenatal and newborn genetic testing market is segmented into hospitals and clinics, diagnostic centers, other end users. The hospitals and clinics held a major market share among the end user segment as they are the primary healthcare centres for all patients. 

Some of the major primary and secondary sources included in the report for the Prenatal and Newborn Genetic Testing Market are the World Health Organization, UAE Genetic Diseases Association, Centre for Arab Genomic Studies, National Health Service (NHS), Centers for Disease Control and Prevention, National Human Genome Research Institute (US), Florida Department of Health and others.

About Us:

The Insight Partners is a one stop industry research provider of actionable intelligence. We help our clients in getting solutions to their research requirements through our syndicated and consulting research services. We specialize in industries such as Semiconductor and Electronics, Aerospace and Defense, Automotive and Transportation, Biotechnology, Healthcare IT, Manufacturing and Construction, Medical Device, Technology, Media and Telecommunications, Chemicals and Materials.

Contact Us: Contact Person: Sameer Joshi  Phone: +1-646-491-9876

[origawashi]

Among  every  living  being  there  is  an  essence  of  a  soul.  These  souls  harness  a  force  of  energy  laying  dormant  within,  better  known  as  CORE;  should  this  energy  become  utilized  by  a  skilled  host,  they  can  be  bequeathed  with  super  human  traits.  Cores  can  be  measured  by  positive,  negative  or  neutral  energy.  Depending  on  the  measured  charge  of  energy,  the  attribute  of  an  entity  aligns  within  three  margins:  MASS,  AFFINITY  and  DIVINITY.

CORE  BALANCE  EXAMPLE

mass:    40%

affinity:  50%

divinity:    10%

the  range  of  this  balance  would  be  associated  with  affinity.

MASS  (  -  )  is  the  ki  property  that  resonated  with  a  negative  essence.    Mostly  seen  in  demons  or  people  with  aggressive  nature,  physical  strength,  durability  and  high  stamina  falls  into  the  ties  of  DEMONIC  KI.    Mass  users  are  at  risk  of  the  possibility  of  running  berserk  and  losing  all  sense  of  judgment  when  pushed  to  the  limit  or  provoked.  An  unrelenting  core,  should  a  human  fall  to  the  brink  of  its  malicious  energy,  will  feel  the  horror  of  their  body  being  torn  apart  from  the  strain.

AFFINITY  (  =  )  is  the  universal  attribute  housed  by  humans.    Falling  completely  in  the  balance  of  black  and  white  (  good  or  evil  ),  this  is  an  efficient  core  type.    However,  based  on  experiences  -  affinity  type  users  are  subject  to  change  and  evolve:  for  better  or  for  worse.  Mortal  beings  are  among  the  most  adaptable  species  in  the  universe.  With  this  in  mind,  the  Affinity  core  is  also  with  many  sub-categories  and  mutations.

BINARY  (  ≠  )    is  a  sub-core  of  affinity.    It  equally  balances  holy  and  demonic  ki.    However,  this  core  is  impressionable.    Major  events  and  traumatization  can  occur  to  change  the  overall  psyche  of  a  character  for  better  or  worse.    This  change,  unlike  Affinity  is  permanent  and  cannot  be  fixed  in  coping.

BINARY  CORE  BALANCE

mass:  50%  

affinity:  0%

divinity:  50%

hosts  of  binary  are  at  higher  risk  of  falling  into  the  MASS  category.  the  demonic  energy  is  not  something  a  human  can  truly  master  and  if  Mass  overtakes  the  body  beyond  80%,  a  host  will  be  forever  lost  to  it.   

CORE  DEFICIENCY  SYDROME  (  CDS  )    is  a  genetic  biological  mutation  in  a  host  of  his  or  her  Core  Usage;  it  affects  up  to  5%  of  the  world's  population.    Unlike  normal  hosts,  who  house  a  POSITIVE  balance,  a  deficient  host's  core  levels  are  INVERTED.    Symptoms  of  this  ailment  mimic  the  affects  of  Sickle  Cell  Anemia,  where  episodes  of  MASS  induced  PAIN  CRISIS  occurs.    Pain  Crisis  strikes  a  user  with  excruciating  levels  of  bodily  trauma  which  can  lead  to  death  in  a  user  who  overexerts  their  ki  /  chi  /  qi.  

CORE  DEFICIENCY  SYNDROME  BALANCE

mass:  -33%

affinity:  -33%

divinity:  -33%

Core  Deficient  Users  balances  are  EQUALLY  divisible  by  99%.    Any  core  equally  divisible  by  99%  indicates  there  is  no  cure.    Most  host  of  CDS  don't  live  past  the  age  of  twenty.   

LAW  OF  PROBABILITY  (  LOP  )  is  a  genetic  biological  mutation  in  the  host  of  his  or  her  Core  usage;  affecting  only  2%  of  the  world's  population,  this  core  is  known  as  the  LATENT  SUPER  POWER.    A  user  with  LOP  has  a  positive  Core  Balance,  however  they  have  absolutely  no  control  of  what  they  can  do.    Living  on  a  game  of  chance,  a  LOP  user  can  display  extraordinary  superpowers  in  one  match,  but  be  flat  useless  in  the  next.

This  mutation  displays  episodes  of  depth  perception  and  neural  handicap,  such  as  slurred  speech  in  a  user.    While  one  can  live  a  long  life  with  this  disorder,  it's  a  risk  to  partake  in  any  fight.

LAW  OF  PROBABILITY  BALANCE

mass:  33%

affinity:  33%

divinity:  33%

Law  of  Probability  Users  balances  are  EQUALLY  factored  to  99%.    Any  Core  factored  to  99  indicates  there  is  no  active  cure  to  their  condition.  However,  with  hosts  of  LOP,  the  remaining  1%  is  dormant.  This  trait  has  been  speculated  to  be  a  universal  cure  to  other  Core  related  issues.

DIVINITY  (  +  )  trait  is  known  to  be  adorned  by  holy  beings,  the  content,  virginal  and  pure-hearted.    potent  in  HOLY  KI,  it  excels  in  ki  potency  (  level  of  ki  )  and  ki  control  (  the  mastery  of  use  ).    Healing  and  long  range  are  their  specialties.    Divinity  users  are  not  physically  powerful  without  the  presence  of  ki  in  their  attacks.

[biostudyblog]

Molecular Genetics

DNA has not always been the accepted building block of genes and inherited material. Until the 1950′s, this role was believed to be filled by proteins.

The Search For Inheritable Material

In 1927, Griffith discovered bacterial transformation, which is the ability of bacteria to change their genetic makeup by absorbing foreign DNA molecules from other bacterial cells and incorporating the DNA into their own.

Then, in 1944, Avery, MacLeod, and McCarty published their findings that the molecule that Griffith’s bacteria was transferring was DNA. 

In 1952, Hershey and Chase proved that it was DNA and not proteins that were the molecules of inheritance. They tagged bacteriophages (viruses that target bacteria) with radioactive isotopes, tagging the protein coat and DNA with different materials. They discovered that when the bacteria were infected with the virus, it was only the radioactive isotope they had tagged the DNA with that showed up.

Rosalind Franklin continued work started by Maurice Wilkins, and by carrying out X-ray crystallography analysis of DNA, found that DNA was a helix. Unfortunately, although her work was the essential backbone to Watson and Crick’s later discovery that DNA is a double helix, she didn’t get credit and was not named in the Nobel Prize.

Meselson and Stahl proved Watson and Crick’s hypothesis that DNA replicates in a semiconservative fashion. In order to prove this, they cultured bacteria in containing heavy nitrogen. They then moved them into a container with light nitrogen. The bacteria could replicate and divide once, and the new bacterial DNA had one heavy strand and one light strand, proving their hypothesis correct.

Structure of DNA

DNA is a double helix and looks like a twisted ladder

DNA has two complementary strands running in opposite sides from each other.

It’s a polymer with repeating units called nucleotides.

Each nucleotide has a 5 carbon sugar (deoxyribose), a phosphate molecule, and a nitrogenous base

There are four possible nitrogenous bases: The purines adenine, and guanine, and the pyrimidines thymine and cytosine. A goes with T and C goes with G.

The nucleotides of opposite chains are bound by hydrogen bonds.

DNA Replication in Eukaryotes

DNA replication is the process of making a perfect replica of the original DNA strand. Semi-conservative replication shows that the two new molecules of DNA have one old strand and one new strand. 

Replication occurs during interphase

DNA polymerase catalyzes the replication of new DNA. It also proofreads each new DNA strand, fixing errors to minimise mutations.

DNA unzips at the hydrogen bonds connecting its two strands.

Each strand of DNA serves as a template for the new strand, based on the base-pairing rules.

Every time DNA replicates, some nucleotides on the end are lost. To prevent this from causing a problem, their DNA has nonsense repeating nucleotide sequences called telomeres.

Structure of RNA

RNA is a single-stranded helix.

It is a polymer, like DNA made of repeating units of nucleotides

It has ribose, a phosphate and a nitrogenous base

RNA does not have Thymine. Instead, it has Uracil. A pairs with U, C pairs with G.

There are 3 kinds: mRNA (messenger RNA) tRNA (transfer RNA) and rRNA (ribosomal RNA)

mRNA: Carries messages from DNA in the nucleus to the cytoplasm during protein synthesis. The nucleotides on mRNA are called codons.

tRNA: Carries amino acids to the mRNA to form a polypeptide. They have triplet nucleotides that are complementary to those of mRNA. These are called anticodons.

rRNA: Is structural. Makes up the ribosome, along with proteins

Protein Synthesis

There are 3 main steps to protein synthesis: transcription, RNA processing, and translation.

Transcription

Transcription is the process where DNA makes RNA. It is facilitated by RNA polymerase and takes place in the nucleus. The triplet codes on DNA are transcribed into codon sequences in the mRNA. 

If the sequences in DNA triplets is: AAA TAA CCG GAC

The codons will look like this: UUU AUU GGC CUG  (remember RNA does not have Thymine)

RNA Processing

After transcription, the initial transcript is processed and edited by enzymes, who remove introns (noncoding sequences of RNA). The remaining exons are pieced back together to form the final transcript. The now shorter mRNA leaves the nucleus

Translation of mRNA Into Protein

Translation is the conversion of mRNA into an amino acid sequence. 

It occurs in the ribosome. Amino acids in the cytoplasm are carried by tRNA to the codons of the mRNA strand according to the base-pairing rules (think of it as trying to put a puzzle together.)

Some tRNA molecules can bind to two or more codons. For example, there are 4 separate sequences who code for the single amino acid: Serine.

Gene Regulation

Cells are not constantly synthesizing all the peptides it can make, as otherwise, the excess proteins would harm the bodies homeostasis. What this means is that the cells need to be able to turn their genes off sometimes. While this process is not well understood in humans, in bacteria it is a much more simple process, and much better understood. 

The operon is the key to gene regulation. It is a cluster of functional genes, along with the “switches” that turn them on and off. There are two kinds. The Lac or inducible operon is normally turned off until it is actively triggered by something in the environment. The other is the repressible operon, which is always turned on unless it is actively turned off.

On the operon, there is the promoter. This is the binding site of RNA polymerase. RNA polymerase always needs to bind to DNA before transcription happens, so the promoter is the equivalent of an on the switch. There is also the operator, which is the binding site for the repressor, which turns of the Lac operon. The TATA box helps RNA polymerase bind to the promoter

Mutations

Mutations are changes in genetic material. They are spontaneous and random. They can be caused by mutagenic agents, toxic chemicals, and radiation. They are often given a bad name, however, they are essential for natural selection.

Point Mutation

A point mutation is the most simple form of a mutation. It is a base pair substitution, where one nucleotide becomes another. The effects of this can be seen when trying to read a sentence.

THE FAT CAT SAW THE DOG ------ THE FAT CAT SAW THE HOG

The change isn’t too dramatic, and the sentence is still legible, albeit having a different meaning

Insertion and Deletion

Insertion and deletion cause much more dramatic changes. They occur when one nucleotide is lost, or an extra nucleotide is added to the sequence. These are also known as frameshift mutations.

Insertion:

THE FAT CAT SAW THE DOG --- TTH EFA TCA TSA WTH EDO G

Deletion:

THE FAT CAT SAW THE DOG--- HEF ATC ATS AWT HED OG

Chromosome Mutations

I went over chromosome mutations more in detail in my classical genetics post, so I’ll do a brief overview of some terms here. 

Aneuploidy is a condition where someone has an abnormal number of chromosomes. Someone who is intersex is an aneuploid because of a chromosomal mutation that gave them an abnormal number of sex chromosomes. 

The condition of having more chromosomes than average is called polyploidy. People with down syndrome are polyploids. More specifically, they have trisomy-21, meaning instead of 2 chromosome 21′s, they have 3.

These mutations are caused by nondisjunction when homologous pairs do not separate properly during meiosis.

It is important to know that chromosomal mutations do not always have disastrous effects. People with aneuploidy still live extremely fulfilled lives, and some don’t just learn to live, become happy with how they were born. 

The Human Genome

A genome is an organism’s genetic material. The human genome contains around 3 billion base pairs of DNA and 20,000 genes. 97% of that DNA does not code for protein production. Some of this DNA are regulatory sequences controlling gene expression, some are pseudogenes, which are former genes which accumulate over time. DNA is still very elusive, and scientists learn new things about it every day. Maybe one day, a scientist will read this blog, shaking his head at how wrong we were today.

Genetic Engineering and Recombinant DNA

Recombinant DNA is the act of taking DNA from two sources and combining them into one cell. This is the foundation of genetic engineering and biotechnology. Two pieces of this massive subject are gene therapy and environmental cleanup. The hope with gene therapy is that scientists may figure out how to insert functioning genes into humans to replace their nonfunctioning ones. Success could mean a cure for cystic fibrosis and sickle cell anaemia. Along with this, microbes could be engineered to decontaminate harmful chemicals at mining sites. GMO’s could be modified 

However, the safety of genetic engineering. GMO’s, in particular, have become a major talking point. One major concern is that GMO’s will accidentally be introduced to the wild which could have major impacts on the ecosystems surrounding farmland.

Restriction Enzymes

Restriction enzymes are essential for scientists who work with DNA. They cut DNA at recognition sequences or sites. They are referred to as molecular scissors. The pieces of DNA that result from the cuts are called restriction fragments.

Gel Electrophoresis

Gel electrophoresis is the act of separating large molecules of DNA based on their rate of movement through an agarose gel in an electric field. The smaller the molecule of DNA, the faster it travels. Before being placed in the gel, the DNA is prepared with restriction enzymes, providing small enough molecules for the scientists to work with.

Polymerase Chain Reaction

Discovered in 1985, a PCR is a cell free, an automated technique that rapidly copies or amplifies DNA. This is great for forensic science, where small pieces of DNA can be expanded, and then compared.

[lunaticlabs]

Today we hit the three week mark in knowing your spinal cord! I’m hoping we can do a full four weeks, that would be quite the collection of knowledge. For those of you just joining in, you can find all of our posts in the neuroanatomy category ordered in reverse chronological order.  As per the last few posts, we’ve covered the majority of the anatomy and now we are looking at different disorders of the spinal cord. Today we’re going to cover another type of injury, this one called anterior spinal artery syndrome, so let’s get started!

In our post yesterday we saw an image which sort of gave some spoilers to the more unique kinds of spinal cord injury. For those who haven’t read it, I suggest you do since it is very interesting, but if you’re only here for the anterior spinal artery syndrome, below is the image I’m referencing from yesterday. The middle image is what we will be covering today, tomorrow we will (probably) cover central cord syndrome.

Anterior spinal artery syndrome, labeled as anterior cord syndrome above, is somewhat similar to Brown-Sequard syndrome in that it almost a coronal version of a hemisection (Brown-Sequard). Like the name suggests, it is caused by a blood flow issue.

This type of lesion is caused by ischemia of the anterior spinal artery. Ischemia is a medical term meaning the flow of blood is restricted, this can happen anywhere on the body (one of the more common areas is the feet in fact). The  anterior spinal artery is the artery that supplies blood to the anterior portion of the spinal cord. The anterior spinal artery follows the anterior median fissure and below we can see an actual cross section of cord showing the artery and because we tend to show the cord alone, we have included an image showing how blood is supplied to the cord.

Spinal cord cross section with the anterior artery showing (top)

This image shows how blood is supplied to the spinal cord

Like Brown-Sequard, anterior cord syndrome can happen at any time and is not congenital (born with it). Because it disrupts the corticospinal tract, typically when it occurs you will have complete motor loss below the lesion. This will also disrupt the spinothalamic tract, you will also lose pain and temperature sensing below the lesion as well. What makes this type of injury interesting is that the medial lemniscus tract remains intact. Therefore, you still have proprioception (as well as vibration sensing). This means that you know where your extremities are in space, even below the injury; however, you have no real control over the affected extremities.

Causes of anterior cord syndrome are just as multifaceted as the causes of Brown-Sequard. These range from things like an aortic aneurysm, direct trauma to the aorta, surgery, disc herniation, damage to the spinal cord, sickle cell, decompression sickness, or even from infections like vasculitis. Like I said, it’s a long list and those are just a few of the things that comprise it.

Because this is caused by a blood flow issue, when it happens symptoms come on fast (10-15 minutes). Unfortunately, when diagnosed there isn’t much that can be done and the prognosis is not good. You can expect that while symptoms will (most likely) not get worse, they will not get better either. In fact, over 50% of people with anterior cord syndrome see little or no change to their condition and the mortality rate is approximately 20%.

Like with each of these I would like to remind you that treatment is in its infancy and unfortunately we haven’t seen much of an improvement for spinal cord injury outcomes since the 80’s really. However, that is slowly changing and with time (and a lot of luck) we will find ways to treat spinal cord injury. So while things are somewhat bleak now, they won’t always be. Who knows, maybe now that you’ve read this you will be inspired to find the fix.

Until next time, don’t stop learning!

Day #178: Know your spinal cord - Anterior spinal artery syndrome #neuroscience #neuroanatomy -- Today we hit the three week mark in knowing your spinal cord! I'm hoping we can do a full four weeks, that would be quite the collection of knowledge.

[softhoneyfawn-blog]

Considering Making Use Of Vitamins And Minerals? Discover Where To Beginning Right here!

Knowing which nutrients are crucial for optimal wellness is important if you intend to enjoy such a condition. Sadly, many people do not know what to seek in a supplement. If you require support discovering the appropriate item, keep reading for some appropriate advice on this topic.

It is not secure to take even more after that the advised worth of most vitamins, so make certain that you avoid this. One example of this is iron, which can be harming to the liver when taken in big doses. If you feel like you are not getting the best gain from your vitamins, you must most likely get in touch with a dietician regarding this.

Sometimes, eating healthy can obtain very costly. You can keep a healthy body by taking supplements, which will permit your body to operate at peak efficiency to shed fat, digest food, and expunge toxic substances.

Coenzyme Q-10 is used to deal with heart as well as vessel problems, including angina, coronary infarction, diabetes, gum tissue illness as well as high blood pressure. This potent formula strengthens body immune systems as well as increases power. Clients can get the compound naturally in fish and shellfish and also meat; nonetheless, a lot of like to take a Coenzyme Q-10 supplement.

Your initial step in beginning with nutrients is to see your household practitioner to find out if you have any type of nutrient shortages. This will certainly aid you get a better concept of exactly how you ought to transform your diet regimen around.

Do not be persuaded among the hype that borders brand-new "wonder" vitamins. While they might have some favorable impacts for some people, a lot of can go their whole lives without taking any of these things. It is constantly best to get in touch with a doctor or dietician prior to taking anything new.

Juicing is preferred these days, and also it is a terrific means to eat healthy fruits and vegetables. Many people include a powdered vitamin and mineral supplement to their juice beverage to produce a healthy breakfast smoothie they can enjoy every day. This drink is not just extremely healthy and balanced, but likewise helps raise power levels.

While vegetarian as well as vegan diet plans can be very healthy, individuals frequently are doing not have in specific vitamins and nutrients. Vitamin B12 and also iron are 2 useful nutrients that usually need supplemented by vegetarians. Vegans often need to supplement their calcium as well as vitamin D intake to guarantee they obtain the appropriate nutrients.

Attempt getting even more manganese in your diet plan. This nutrient advertises solid bones and also fast healing. You can additionally enhance your body's metabolic process of protein, cholesterol, and carbs. Almonds, black as well as green tea, beans, and entire grains all have it. You can additionally find manganese supplements on-line or in vitamin shops.

After you go shopping, see to it to store your fresh vegetables and fruits in the fridge. Maintaining your fruit and vegetables cool assists the food retain crucial vitamins, minerals and enzymes. Acquisition fresh produce often and consume it daily to get the most from these foods. The more nutrients you receive from your food, the much less you require from supplements.

Whenever a supplement has actually an advised everyday allocation quantity listed, don't surpass it! Do your research as well as figure out what the repercussions are of taking excessive of that product. It could be rest disturbances or perhaps heart rhythm disturbances, so don't take an overdose lightly just because it is a vitamin!

When pregnant or breastfeeding, just take supplements your doctor oks. It might appear as though vitamins are safe, however they might trigger problems for individuals in particular circumstances. Taking a supplement without consulting a doctor can mean negative points for the health and wellness of your child.

Vitamin B3, also referred to as niacin, is found in B complicated supplements, meat, fish, eggs as well as cereals. This vitamin has actually been made use of to deal with high cholesterol, wooziness, migraine headaches and also other flow issues, Deficiencies in Vitamin B3 creates aggression, dermatitis, edema, sleeplessness, mental complication, looseness of the bowels, weakness, expanded cardiomyopathy and also even fatality.

As we age we usually find that we have a much shorter memory span and neglect the easiest points. This is frequently due to a lack of vitamins and minerals in the system. By talking with your doctor or taking some form of multi-vitamin you will assuredly observe a huge difference in memory as well as mind feature.

Vitamin B6 shortages can trigger anemia, cardiovascular disease and also high cholesterol. This powerful vitamin can be found in cereals, liver, beans, eggs, vegetables and also red meat. Vitamin B6 is made use of to in people experiencing ADHD, diabetes mellitus, autism, Down's syndrome, sickle cell anemia, migraine headaches, bronchial asthma and also macular deterioration.

If you are on blood slimmers, make sure to speak with your medical professional prior to you take vitamin K. This vitamin can quit the impact of your prescriptions, bring about major health effects. Always allow your physician know when you want to take a supplement if you get on any prescriptions.

Load a boiled egg for lunch. Iron is essential to the body, yet difficult to keep proper degrees. Boiled eggs are abundant in healthy protein, iron and Vitamins An and B. Consuming a steamed egg every day can help to supplement these nutrients and also help you maintain a healthy iron balance your body requirements.

When you are searching for a multivitamin, look for those which contain 100% of the daily worth of a lot of the ingredients. Because you are looking to raise your nourishment, you ought to attempt to obtain one of the most benefit possible. If they contain really little of each individual nutrient, there is no point in taking them in all.

Zinc supplements help you fight colds and also the flu efficiently. Although a trace element, your body uses zinc to improve resistance as well as to eliminate infections in the ears and the reduced breathing tract. It additionally gives security versus parasitical infections such as jungle fever. Along with avoiding eye problems, it also assists with vision. This mineral is offered in oral and also topical solutions.

As you need to realize by now, obtaining the proper minerals and vitamins is not so hard once you understand what to look for. The most important step is simply to get more information concerning these materials. As soon as you have actually done so, you can start to patronize confidence for a good supplement.

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Do You Know These Benefits of Hypnosis?

Do you know what hypnosis is and how it can benefit you? You might have seen hypnosis in the movies when a doctor hypnotizes someone to know some secrets or uses this as a control tactic to trigger certain actions. While hypnosis is often seen as fun, it offers many health benefits.

Further, hypnosis is nothing but a psychological treatment that encourages changes in sensations, perceptions, thoughts, and behaviors. It is performed in a medical setting by a trained and licensed professional. Many hypnotherapists offer recorded hypnosis sessions. You can download hypnosis session and listen to it to improve your life.

Why should you go for hypnosis?

1. Hypnosis helps with insomnia and sleepwalking.

Are you struggling to cope with insomnia and sleepwalking? Hypnosis will help. After all, many people worldwide cannot get quality sleep, and they walk while sleeping. You can consult a hypnotherapist to relax your mind and find solutions to deal with sleep issues.

Furthermore, a hypnosis session will help a sleepwalker know if they are walking as they touch the ground. On the other hand, hypnosis is also helpful there if someone wants to sleep. Moreover, there are hypnosis sessions available these days in recorded form. You can download a hypnosis session and start your transformation journey.

2. Anxiety

Hypnosis is one of the relaxation sessions that you can apply to relieve anxiety. This is helpful for those suffering from anxiety due to chronic illnesses, including heart disease.

In addition, it is also helpful if someone is struggling with phobia (a type of anxiety disorder). 

Now you can think, how does it work to ease anxiety? Hypnosis works by activating your natural response system through slow breathing and lowering blood pressure.

3. IBS or irritable bowel syndrome

Are you getting symptoms of irritable bowel syndrome? Many clinical studies show the effectiveness of hypnosis for IBS. Irritable bowel syndrome is nothing but abdominal pain caused by the bowels. When you try hypnosis for the same, you experience constipation, diarrhea, and bloating improvement.

According to Dr. Grant, “sometimes IBS can cause secondary symptoms, like nausea, fatigue, backache, and urinary problems. Hypnosis has shown to be able to help with these, too.”

4. Chronic pain

Pain management has become one of the major challenges for people around the world. You may be one of them and have chronic pain such as migraines and tension headaches. In addition, one can also have pain associated with arthritis, cancer, sickle cell disease, and fibromyalgia.  Trying hypnosis for chronic pain helps you take control of your pain. Studies also talk about the effectiveness of hypnosis in the long run.

5. Quitting smoking

Do you want to quit smoking but cannot do so? Hypnosis will help. For example, if you want to give up cigarettes, you can consult a hypnotherapist in your area. One needs a one-to-one session with a certified and licensed hypnotherapist for this treatment. 

Hypnosis works by replacing your action with a healthy habit. It guides your mind to other habits instead of smoking.

6. Weight loss

Some studies show the benefits of hypnosis for weight loss of around 6 pounds in 18 months. One can make the most out of it by combining this therapy with a healthy diet and physical activities.  

Conclusion

This is what you need to know about hypnosis and its benefits. If you find it useful and think of trying the same, call Don L. Price. They are a certified hypnotherapist and transformational coach. You can book a hypnotherapy session and take your life toward a change. You can also download a hypnosis session. You can use the downloaded content to change your life significantly. Visit the website to learn more.

"This is what you need to know about hypnosis and its benefits. If you find it useful and think of trying the same, call Don L. Price. He is a certified hypnotherapist and transformational coach. You can book a hypnotherapy session and take your life toward a change.

You can also download a hypnosis session. You can use the downloaded content to change your life significantly. Visit the website to learn more."

[rohit890]

Newborn Screening Market Insights into The Competitive Scenario of the Business Field

Market Overview

The global newborn screening market was valued at USD 1.7 billion in 2021 and it is anticipated to grow up to USD 3.7 billion by 2031, at a CAGR of 8.0% during the forecast period.

Newborn screening identifies conditions that can affect a childs long-term health or survival. This screening technology includes a series of tests essential for timely detection, early diagnosis, and health management to prevent overall disability and avert death of a child. These tests are performed shortly after the baby is born, and detect genetic, developmental, and metabolic disorders in newborn babies. Newborn screening is done by using a few drops of blood from the newborn’s heel, for certain genetic, endocrine, and metabolic disorders, and are tested for hearing loss and critical congenital heart defects (CCHDs) prior to discharge from a hospital or birthing center.

View Detailed Report Description: https://www.globalinsightservices.com/reports/newborn-screening-market/

Market Dynamics

The prevalence of newborn diseases has risen in recent years, prompting providers to raise awareness and support the demand for advanced screening instruments. Hearing, metabolic, and hormonal disorders and critical congenital heart disease are the major newborn disorders; most are treatable if diagnosed early. For instance, according to the US CDC, during 2015–2017, the prevalence of newborn disorders was 34 per 10,000 live births in the US. Approximately 12,900 infants are expected to be identified each year with a disorder. Moreover, according to the same source, the most prevalent disorders are hearing loss (16.5 per 10,000), congenital hypothyroidism (6.0 per 10,000), sickle-cell disease (4.9 per 10,000), and cystic fibrosis (1.8 per 10,000). Such scenario will propel the industry growth.

Several ethical concerns related to prenatal and new-born testing may hamper the market progression. Prenatal and new-born genetic testing raises complex ethical issues further limiting the development of clinical services and implementation of public policy related to access and funding. The use of screening in selective abortion has raised several concerns. The rising occurrence of false results in prenatal and new-born genetic testing might decrease the adoption of genetic testing. For instance, around 5% of women are tested false-positive during prenatal testing for Down syndrome.

Get Free Sample Copy of This Report: https://www.globalinsightservices.com/request-sample/GIS10337

The key players in the market are PerkinElmer (US), Demant A/S (Denmark), Natus Medical (US), Bio-Rad Laboratories (US), Danaher Corporation (US), Medtronic (Ireland), Chromsystems Instruments & Chemicals GmbH (Germany), Trivitron Healthcare (India), Baebies (US) and Recipe Chemicals+Instruments (Germany), among others.

About Global Insight Services:

Global Insight Services (GIS) is a leading multi-industry market research firm headquartered in Delaware, US. We are committed to providing our clients with highest quality data, analysis, and tools to meet all their market research needs. With GIS, you can be assured of the quality of the deliverables, robust & transparent research methodology, and superior service.

Contact Us:

Global Insight Services LLC

16192, Coastal Highway, Lewes DE 19958

E-mail: info@globalinsightservices.com

Phone: +1–833–761–1700

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These Gene Therapy Drugs Offer Breakthrough Results Cost Millions

Genes are made up of the nucleotide sequences required to make a polypeptide chain or functional RNA, which maintains life's fundamental structure and function by storing all of the information necessary for race, blood type, incubation, growth, apoptosis, and other activities.

Gene is regarded as the "Holy Grail" of biological research due to its great potential. Gene therapy research has sparked a major medical revolution in recent years, but its costs have put people off. This article will discuss various high-priced gene therapies that are now available.

Zolgensma for SMA

Zolgensma is a gene therapy designed for spinal muscular atrophy (SMA), which is a serious neuromuscular disease characterized by loss of motor neurons leading to progressive muscle weakness and paralysis. The incidence of SMA is about 1 in 10,000 live births and is the main genetic cause of infant death. In the trial, 15 patients infused with Zolgensma remained alive for 24 months, and 92% of patients can sit unassisted for 5 seconds or longer.

In May 2019, the FDA approved Zolgensma with the price setting at $ 2.1 million, roughly 9 times the median sale price for a home in the U.S. and 33 times the national per capita income.

LentiGlobin for SCD

LentiGlobin is a kind of stem cell gene therapy designed to add functional copies of a modified form of the β-globin gene, which does not work as it should in sickle cell disease (SCD) sufferers, into a patient’s own hematopoietic stem cells. When patients have copies of the functional gene, their red blood cells can produce anti-sickling hemoglobin which decreases the amount of the faulty sickled hemoglobin.

Leerink, a specialist investment bank focusing on the healthcare sector, estimates LentiGlobin's price at about $1.2 million in the U.S. and $900,000 in the EU. 

Glybera for FCS and Strimvelis for SCID

Glybera and Strimvelis are two gene therapy products approved by the European Medicines Agency (EMA). Strimvelis was launched in 2016 for the treatment of severe combined immunodeficiency (SCID) and Glybera was launched in 2012 to treat familial chylomicronemia syndrome (FCS).

SCID is a rare disease that causes newborns to almost completely lose their ability to resist viruses, bacteria, and mold. Some patients can only live in a sterile environment, so they are also called bubble boy disease. Strimvelis involves removing stem cells from the patient's bone marrow, transducing a normal copy of the adenosine deaminase (ADA) gene into the stem cells, and then reintroducing the stem cells into the patient by intravenous infusion, after which some of the stem cells will return to the bone marrow. The therapy has been implemented in 18 children with the earliest 15 years ago, and up to now, they are still alive.

FCS is a rare autosomal recessive disorder caused by mutations in lipoprotein lipase. The patients suffer from various acute pancreatitis recurs, which is very painful and even life-threatening. Glybera uses an adeno-associated virus (AAV) to deliver genes that produce functional lipoprotein lipase to patients' skeletal muscles. After treatment, the incidence of pancreatitis is greatly reduced, and dietary restrictions can be relaxed to improve the quality of life.

Glybera is priced at about $ 1,000,000 and has only sold 1 since it went on sale in 2012. Due to a lack of market demand, it delisted in 2017. Strimvelis is priced at about $700,000. Only two copies were sold after it was launched in May 2016, and only two patients are scheduled to receive treatment.

Although gene therapy has increased the cure rate of many rare diseases, the expense of treatment has made it unaffordable for most individuals. At the currently, the US government is progressively adopting an insurance reform pilot program in order to entice insurance companies to pay gene therapy.