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#Genetic counseling
channeledhistory · 3 months
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Auch juristisch wirft ein mögliches genomweites Screening viele Fragen auf. Schwierig ist schon die nötige Aufklärung der Familien.
"Da haben wir natürlich das Problem, dass wir entsprechend der Eingriffstiefe dieses genomischen Screenings die Eltern so aufklären müssen, dass sie wissen, worin sie einwilligen und welche Folgen sich möglicherweise kurz-, mittel- und langfristig daraus ergeben könnten", sagt Ralf Müller-Terpitz, Direktor des Instituts für Medizinrecht an der Universität Mannheim.
Das wirft Fragen auf - zum Beispiel wie sie Einwilligung ausgestaltet sein muss und wie viele Informationen man geben soll. Und vor allem: Wer soll die Eltern konkret aufklären? Nur mit einem Zettel und zwei Sätzen von der Hebamme wird es beim genomischen Screening nicht funktionieren. Ob Ärztinnen und Ärzte sich ausreichend Zeit nehmen können, ist auch fraglich.
Es könnte sich möglicherweise als neues Berufsbild der oder die "genetic counselor" etablieren - jemand mit guter Vorbildung in Genetik, der die Familien gründlich informiert. Natürlich auch darüber, was mit den gesammelten Daten passieren soll. Im Moment ist noch völlig offen, ob sie rasch vernichtet oder im Gegenteil lange gespeichert werden sollen.
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mindfulnutritionsblog · 3 months
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Empower Girls: Practical Tips for Periods
Embarking on the journey from girlhood to womanhood, where your body undergoes significant changes, is a pivotal experience. One crucial aspect of this transformation is the arrival of your period. In this article, led by the expertise of Dr. Shevon Joseph, a specialist in Obstetrics and Gynecology, aims to simplify the conversation around periods and provide practical tips on self-care during this essential phase of life.
What are Periods?
Periods, also known as menstruation, are a normal part of growing up for girls. It's when your body releases blood and other materials from your uterus. This usually happens about once a month. While menstruation is a natural and healthy process, some individuals may experience menstrual disorders, which can affect the regularity, duration, and intensity of their periods.
Dealing with Period Pain:
Many girls experience cramps or pain during their periods. It's entirely normal, but there are things you can do to feel better. Taking a warm bath, using a heating pad, or taking over-the-counter pain relievers can help ease the discomfort. However, for some individuals, menstrual pain may be indicative of underlying conditions such as Polycystic Ovary Syndrome (PCOS).
Using Pads and Tampons:
During your period, you can use pads or tampons to absorb the blood. Pads stick to your underwear, while tampons are inserted into your vagina. It's essential to change them regularly to stay clean and comfortable.
PMS (Premenstrual Syndrome):
You might have heard about PMS. It's when some girls feel moody, irritable, or have physical symptoms like bloating before their period. Eating healthy, getting enough sleep, and staying active can help manage PMS.
Talking to Someone:
If you ever feel confused or worried about your periods, don't hesitate to talk to someone you trust, like a parent, older sibling, or a school nurse. They can provide support and answer your questions.
Taking Care of Your Overall Health:
Periods are just one part of being healthy. Eating nutritious food, staying active, and getting enough sleep are essential for your well-being. If you have concerns about your health, it's always a good idea to talk to a doctor. In addition to maintaining overall health, it's crucial to be aware of specific reproductive health issues, such as Pelvic Inflammatory Disease (PID).
Conclusion:
Remember, every girl goes through this, and it's a natural part of growing up. Taking care of your body and understanding what's happening can help you feel more comfortable and confident during this time. If you ever have questions, don't be afraid to ask for help from someone you trust.
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Training the next generation of genetic counselors is an important task for GGC. Each semester, genetic counselors-in-training spend weeks in one of GGC’s clinical offices to gain valuable experience in real-life clinical settings.
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tenth-sentence · 7 months
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Only a small percentage of women who seek genetic counseling are advised to undergo amniocentesis.
"In the Name of Eugenics: Genetics and the Uses of Human Heredity" - Daniel J. Kevles
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renewhealthcare0 · 8 months
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Genetic Counseling in India: Expert Guidance for Pregnancy
Genetic Counseling in India is an essential aspect of ensuring a healthy pregnancy. At Renew Healthcare, we offer specialized genetic counseling services that focus on the well-being of both you and your unborn child during the crucial phases of pregnancy planning and pregnancy itself.
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Understanding Genetic Counseling for Pregnancy
Genetic counseling for pregnancy involves seeking expert guidance to comprehend the potential genetic factors that might impact your child's health. This counseling equips you with the knowledge to make informed decisions about your family's future.
Why Choose Renew Healthcare for Genetic Counseling During Pregnancy?
Renew Healthcare is dedicated to providing high-quality genetic counseling services tailored to the unique needs of Indian families. We combine expertise with cutting-edge technology to detect potential genetic issues early in your pregnancy, offering peace of mind as you embark on this transformative journey.
Our Preconception Genetic Counseling Services
Comprehensive Genetic Risk Assessment: We evaluate your family history, ethnic background, and medical history to identify potential genetic risks.
Detailed Consultations: Our genetic counselors provide thorough guidance on risk mitigation and how to optimize your chances of a healthy pregnancy.
State-of-the-Art Testing: We offer advanced genetic testing options designed to detect potential genetic conditions in your baby.
Personalized Care: Recognizing the cultural and genetic diversity in India, we provide tailored advice that suits your unique circumstances.
Emotional Support: Pregnancy is an emotional journey, and our compassionate team is here to offer support throughout the process.
The Importance of Preconception Genetic Counseling
Preconception genetic counseling in India plays a critical role in your family's health and planning for the future. By identifying potential genetic issues before conception, you can:
Mitigate Risks: Understand and address potential genetic risks that might affect your child's health. Make Informed Decisions: Armed with knowledge, you can make informed choices about family planning and reproductive options. Optimize Your Pregnancy: Preconception counseling helps you optimize your pregnancy for the best possible outcome. Embrace a Healthier Future: Ensure the well-being of your family and future generations by addressing genetic concerns. Contact Renew Healthcare for Your Genetic Counseling Needs
Make the smart choice for your family's health by choosing Renew Healthcare for genetic counseling in India. Our experienced team is ready to assist you on your preconception genetic counseling journey. Schedule an appointment with us today and take the first step toward a healthier and more informed pregnancy experience. Your family's well-being is our top priority, and we're here to support you every step of the way.
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memoamp · 9 months
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Nicole Talaba (she/her) - UCSD '22
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Career Goal: Genetic Counseling
Major/Minor: General Bio Major/Psych Minor
Introduction: Hi I’m Nicole. My gender pronouns are she/her. Nice to meet yall! I’m from OC and I graduated from UCSD in 2022, then worked as a lab tech there for a year. I am now a first year genetic counseling student at UT Health Houston MD Anderson, so I am missing my California weather. When I have free time, I love going to boba/coffee stores to catch up on work, because seeing other people work motivates me to stay off of TikTok. Cooking and watching tv shows is my self care too. I also propagate plants (RIP to the ones I had to sell before I moved). If you ask anyone in UCSD MEMO, my super-skill is reversing into parking spots--without a camera. On a concluding note, I understand how stressful it is to figure out what you want to do and then trekking through said journey itself. I really do like talking to people about all things pre-health, so I am always happy to chat about anything :)
Involvements/Extracurriculars:
{Undergrad}
Marshall Orientation Leader, Biology IA, Lab/Research Assistant, Alternative Breaks, Yerba Mate Ambassador (free drinks heh)
{Post-grad}
Chromosomal disorder outreach.org ‘articles of the month’ writer, crisis text counselor, full-time staff research associate, genetic counseling shadowing. And GC student ;)
What kind of advice would you be giving? undergrad, working in a lab, pre-health, application advice
Best piece of advice you've received? It’s okay to be selfish sometimes and prioritize yourself!
Preferred method(s) of communication: Phone Number (text/call), Email, Facebook Messenger, Instagram
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yadavhewrote · 1 year
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Understanding Down Syndrome and Cooper Pharma's Efforts to Support Individuals with the Condition
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World Down Syndrome Day is a global observance that aims to raise awareness about Down syndrome and advocate for the rights, inclusion, and well-being of individuals with the condition. This day is celebrated on March 21st every year to signify the uniqueness of individuals with Down syndrome, who have an extra chromosome in their cells.
Cooper Pharma is a leading pharmaceutical company that is committed to supporting individuals with Down syndrome through its various initiatives. As a responsible corporate citizen, Cooper Pharma recognizes the importance of promoting social inclusion and providing equal opportunities for individuals with Down syndrome.
One of the key areas of focus for Cooper Pharma is to raise awareness about Down syndrome among healthcare professionals, parents, and caregivers. The company provides educational resources and training programs to healthcare professionals to enhance their understanding of the condition and enable them to provide better care and support to individuals with Down syndrome.
Cooper Pharma also works closely with advocacy groups and non-profit organizations that are dedicated to supporting individuals with Down syndrome. The company provides financial and logistical support to these organizations to help them carry out their important work.
In addition, Cooper Pharma is committed to developing and providing affordable medicines and therapies to individuals with Down syndrome. The company's research and development team is constantly working to develop innovative treatments that can improve the quality of life of individuals with the condition.
On this World Down Syndrome Day, Cooper Pharma reiterates its commitment to supporting individuals with Down syndrome and promoting their well-being. The company remains dedicated to its mission of improving the health and quality of life of individuals with Down syndrome and their families.
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saumya-12 · 2 years
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4 BENEFITS OF PRENATAL COUNSELLING AND HOW IT WORKS | Drjyotisharma
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The June 24, 2022 Dobbs v. Jackson landmark decision by the United States Supreme Court held that the Constitution of the United States does not confer the right to abortion. This decision returned to individual states the power to regulate any aspect of abortion not protected by federal law. Since this ruling, multiple states have limited or completely banned abortion care for people who are pregnant. In at least nine states, abortion is blocked with no exceptions for rape or incest.
Multiple states have banned abortion after 18, 15, or even 6 weeks gestation. These time restrictions make it impossible for patients to use medical information from ultrasounds and/or genetic testing, available later in pregnancy, to determine if a fetus has an anomaly and/or a life-threatening or lethal condition.
These abortion restrictions and laws permitting any citizen to sue anyone “aiding or abetting” an illegal abortion for up to $10,000 has created uncertainty and fear among health care providers trying to provide medical care to pregnant patients experiencing miscarriage, tubal or ectopic pregnancy (when the embryo implants in the fallopian tube, where it cannot become a full term pregnancy; can be lethal to the mother if not treated promptly and correctly), or those who need prenatal genetic counseling. Clinicians are unclear where the lines stand between providing care and committing a felony that could equal jail time, and this means that pregnant people aren’t getting the appropriate and timely care they need, even outside of a healthy, viable pregnancy.
But did you know that the Dobbs decision has also prevented non-pregnant women from receiving the medications they need to treat lupus, rheumatoid arthritis, and other conditions treated with medications like methotrexate?
Chris Stallman, MLS, MS, is a certified genetic counselor, an expert in medication impact during pregnancy, and a Clinical Instructor of Pharmacy Practice-Science at the University of Arizona R. Ken Coit College of Pharmacy. “Methotrexate is a medication used to treat many conditions, including lupus, rheumatoid arthritis, Crohn’s disease, and other autoimmune diseases. If a person who is pregnant uses methotrexate, it could increase the chance of miscarriage, birth defects, and other issues in pregnancy or after birth.”
For this reason, girls and women of child-bearing age who are taking methotrexate as treatment for their autoimmune or other diseases are not able to take methotrexate – even if they are not pregnant.
This critical problem is not hypothetical – treatment with methotrexate has already been withheld from female, non-pregnant patients with serious medical conditions in multiple states.
A 48-year-old woman in Tellico Plains, TN received an automated call from her CVS Pharmacy in July 2022 indicating that her prescription for methotrexate wouldn’t be refilled. This patient, who has inflammatory arthritis and a neuromuscular disease called myasthenia gravis, stated that methotrexate allowed her to resume simple, yet previously painful tasks like putting on her pants and rolling over in bed.
In June 2022, not 24-hours after the Dobbs ruling, a patient in Maryland who has Crohn’s disease received a call from her insurance company indicating that methotrexate, used to treat the chronic inflammation and pain associated with this condition, would no longer be available to her.
Within a week of the Dobbs ruling, a woman in Virginia who has Lupus received a letter from her doctor’s office indicating that it was pausing all prescriptions and refills of methotrexate because of the Supreme Court decision on abortion. Before taking methotrexate she experienced flares of Lupus so severe that she had trouble walking and needed to use a shower chair to wash.
Another woman from Missouri had been taking methotrexate to treat rheumatoid arthritis. When she went to the pharmacy to pick up her refill she learned from the pharmacist that they needed a specific direction from her doctor that the medication would not be used for an abortion. The pharmacy, Walgreens, confirmed with this customer that they do not require the same procedure from their male clients.
A 14-year old girl in Arizona was denied a refill of methotrexate to treat her debilitating rheumatoid arthritis and osteoporosis. Her angry physician tweeted that her patient was denied this critical medication because she was female. The withholding of life-saving or -altering medications from the women who need them has forced some of them to consider surgical sterilization.
Could denying women of childbearing age (who may or may not be sexually active, fertile, heterosexual, or pregnant) methotrexate be just the beginning of problems for women who need prescription or over-the-counter medications? Stallman says, “This certainly could lead to more medication denials – and not just for people who can get pregnant. If my husband or children need medication that could increase risks to a pregnancy, would they be denied the medication simply because they live with a person who could get pregnant? Will health care providers have to stop handling or dispensing such medications if they or their partner could get pregnant? And before saying ‘that will never happen’, remember that is what people said about the overturning of Dobbs. We don’t know how far this will go.”
Let’s take this thought experiment a step further. Is it possible that young girls will have to present a letter from their pediatricians indicating whether they’ve started having periods before they can receive the medications they need? Will adult women have to present written proof of tubal ligation, menopause, or infertility from their physicians before filling their life-saving medications? Will other medications that can affect the health of a fetus, even the highly regulated acne medication Accutane, require such additional proof? Could pharmacies use the data they have on prior purchases, like tampons and lubricant, to determine if a woman may be of child-bearing age and/or is sexually active?
The Dobbs decision is just the beginning of our government interfering with womens’ bodies, their personal choices, and their medical care. This decision is already impacting health care outside of pregnancy and could force women and their family members to disclose personal information about their fertility, sexuality, sexual and medical history with pharmacists, medical systems, the government, and the databases that all of them use. Our federal government must act swiftly to ensure that this decision doesn’t lead to further government overreach, discrimination, interference in proper medical care, and tragedy.
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sunset-peril · 2 months
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I actually tend to hc that all the Links are descended from another at some point.
However, what do you think about epigenetics being a viable reason for such?
You mean epigenetics being the reason they all are similar? Or that epigenetics is the reason they're all descendants of each other? I'm not sure I understand the question.
However, considering that epigenetics regards the condensed-ness (that's not a word but oh well) of the histones and the DNA wrapped around them and that most epigenetic changes are extremely reversible due to being caused by environmental stimuli (the only epigenetic changes that are permanent being CpG methylations in gene promoters, because those control cell differentiation.), I don't think epigenetics would leave a permanent mark on all Links as a whole. If Twilight Princess was Ocarina of Time's grandson or great-grandson, then that would be the only time I could see epigenetics playing a role in more than one Link. However, I think the rest of them are too far apart in the bloodline to have any real epigenetic effect on each other. Generally, epigenetic changes have been reversed after two or three generations, unless whatever stimuli that caused the original modification was persistent. (We used diabetic rats and poor/proper dieting for this study, and research on psychological epigenetics is still very new)
Although now that you mention this, I am curious to see how epigenetics would play a role in BotW/TotK's children.
I hope that answers the question!
For me I definitely hc that Skyward, Ocarina, Twilight Princess and BotW/TotK being all relatives (BotW being descended from TP literally being a foundational piece in my lore). I just don't know enough about the rest of them to decide for the rest of them.
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bitchfitch · 1 year
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tbh i think i finally cracked a nut I've been teething in for a while.
For the story to work Pavo has to be Far more eager to radically change his relationship to Esti than I think a man as stubborn as him would be. He's practically raised Esti and has trained him in everything Pavo Could train him in. For over a decade Esti has been such a fixture in his life that people are surprised to see one of them without the other if there's not a Really good reason for them to be apart.
And the cracking came because like. Pavo is not a man who can handle nuance well. He needs things to be emotionally simple and uncomplicated and to fit neatly into his hyper-toxic masculinity poisoned view on reality. Things that don't fit are to be destroyed discarded or broken down until they do.
His relationship with Esti Was simple. Of course a mentor would be proud of their apprentice and want boast about them at every turn and to spend as much time with them as possible. Of course they would want to push themselves to be a better example for them and to protect them from everything and to devote a massive amount of time and thought to them.
Even if Pavo would never admit it, not even to himself, he loved Esti like a son. And that was easy when Esti was still a child.
Esti grew up. He needed Pavo less and less as he became more independent and a man of his own.
And that terrified Pavo in a way he would never be able to put to words. Esti wasn't his son. He was his apprentice. there would be a day they'd have to say goodbye and even if Esti Swore he would visit. Why would he? They didn't share blood. Esti had no reason to butter him up for an inheritance. No younger siblings to come be a roll model for. Why would a grown man spend time with another man when there was nothing in it for him? Pavo would never admit how much being alone scared him. He'd been Fine alone before Esti. He'd be fine again.
Why would he want to see Esti again anyways? He taught him everything he could. Esti had been a chore. Pavo should be happy to soon be free of the responsibility of raising another man's kid.
He told himself that but he still wasn't. and for a guy so scared of his own feelings that was unacceptable. It was too complicated.
And then the party came around. The last birthday Esti would celebrate in this village, and the first one Pavo would celebrate with him. Pavo had always tried to make sure Esti had a life beyond his training, friends and acquaintances and those he would get sweet on from time to time. People he could spend time with and celebrate alongside. So Pavo had never been to give him a space free of his mentor.
The night went well, Esti lost a lot of his nerves the further into a bottle he got. All that doubt just spilling off him. Pavo had never seen him properly drunk, only ever the hangovers after. He'd rarely seen him so unconcerned and happy and open with his thoughts. Impulsive instead of constantly wrapped up in a knot of indecision.
Esti would be leaving in a weeks time. Pavo waited for the clock to strike midnight to congratulate him on becoming a man. he'd been an adult for years, but not a man so long as he lived under his mentor's wing.
Esti had stared at him, cheeks flushed and eyes bright. And then Esti was in his lap. Gangly legs either side of Pavos and thin but still strong arms wrapped tight around his shoulders. Kissing him like they were too long separated lovers.
And that was it. That was what Pavo needed when his heart was aching. not necessarily the kiss, but the closeness and touch and Esti there with him and not leaving him behind. He hadn't really ever thought of his apprentice in a sexual light. the odd intruding thought but nothing he ever actually considered acting on.
But now. Now it was a way to twist and recontextualize things. It was a reason to cling to Esti and hold him close and keep him and never have to say goodbye. It fit right in with Pavo's view of the world. He was strong, and despite everything Pavo had done to train and teach, Esti was still so very weak. He always would be because of his half blooded nature. He was weak, Pavo was strong. The strong protect the weak, the weak serve and thank the strong.
This was how Pavo would justify refusing to let Esti leave and clinging to him for as long as possible.
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dr-dendritic-trees · 10 months
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Instagram is at it again and is now recommending me direct-to-consumer whole-genome sequencing... complete with unboxing video.
And I'm not going to lie, I do not like that.
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thombyxbe · 1 year
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Fascinating Facts: Unveiling the Mysteries of Chronic Pain
Unveiling the Mysteries of Chronic Pain Chronic pain is a complex and debilitating condition that affects millions worldwide. As we delve into the realm of understanding this enigma, here are some intriguing facts that shed light on this pervasive issue: Prevalence: Chronic pain knows no boundaries. It affects people of all ages, genders, and backgrounds, impacting an estimated 20% of the global…
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tenth-sentence · 7 months
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In response to the outcry against the early practices characteristic of the sickle-cell-screening programs, reforms were incorporated into the National Genetic Diseases Act: at the state and local levels, screening and counseling programs were made voluntary rather than mandatory; eligibility for other federal services was not to hinge on participation; and the results were to be kept confidential.
"In the Name of Eugenics: Genetics and the Uses of Human Heredity" - Daniel J. Kevles
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bklynmusicnerd · 2 years
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"Trina would want" "Trina wouldn't want" If these damn people don't just do what they were always going to do and stop invoking Trina's name like she's a wise elder or something...
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marketstudyinfinium · 5 months
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