#zellweger disease

[bpod-bpod]

Vital for Immunity

Importance of peroxisomes – organelles inside cells that are involved in lipid metabolism – for immune cell development and immune responses revealed by defects seen in a peroxisome-deficient mouse model of the congenital disorder Zellweger disease

Read the published research article here

Image from work by Brendon D. Parsons and Daniel Medina-Luna, and colleagues

University of Alberta, Department of Laboratory Medicine and Pathology, Edmonton, AB, Canada

Image originally published with a Creative Commons Attribution – NonCommercial – NoDerivs (CC BY-NC-ND 4.0)

Published in Cell Reports, February 2024

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[leanstooneside]

LEAVE 'EM LAUGHING (TOTEGHOSTLY-2-0)

• Kris Humphries's thumb (Other specified injury of unspecified blood vessel at shoulder and upper arm level, right arm)

• Amanda Peet's eye (Malignant neoplasm of left orbit)

• Katie Holmes's lower leg (Salter-Harris Type I physeal fracture of upper end of right fibula)

• Goldie Hawn's knee (Other ulcerative colitis with intestinal obstruction)

• Jack Nicholson's nostril (Burn of unspecified body region, unspecified degree)

• Toni Collette's arm (Pseudocoxalgia, left hip)

• Kaley Cuoco-Sweeting's ear (Disorder of central nervous system, unspecified)

• Renee Zellweger's forehead (Unspecified staphylococcus as the cause of diseases classified elsewhere)

• Mena Suvari's ear (Other combined immunodeficiencies)

• Johnny Knoxville's buttocks (Family history of malignant neoplasm of other genital organs)

• Johnny Depp's wrist (Corrosion of unspecified degree of right lower leg)

• Shania Twain's belly (Rheumatoid lung disease with rheumatoid arthritis of unspecified site)

• Mary J. Blige's forehead (Myositis ossificans traumatica, right forearm)

• Julie Bowen's shoulder (Alcohol abuse with intoxication)

• Rory McIlroy's thigh (Exposure to smoke in uncontrolled fire in building or structure)

• Matthew Fox's lower leg (Contusion of small intestine)

• Janice Dickinson's nose (Corneal ulcer with hypopyon, unspecified eye)

[doctorfoxtor]

how does one even leave their consciousness at someone's front door step? well who am I to question our queen Willow anyway tbh

100 days of productivity

day 40 + 41

CVS/RS

20-25% of presenting PEs do NOT have an associated DVT

no impact of steroids on silicotic lungs

isocyanates → NSCLC

ILO categories of profusion of small opacities in pneumoconioses (esp CWP/silicosis): cat 0 = no small opacities, cat 1 = few opacities, cat 2 = many opacities but normal lung markings visible, cat 3 = normal lung markings virtually absent (can choose two adjacent categories to assign if it's felt to be borderline, can choose the same category twice)

CNS/Ophthal/Psych

Bowlby-Parkes stages of grief: numbness, pining, disorganisation & disrepair, reorganisation & recovery

progressive brainstem symptoms not explained by a single localisation → vertebral artery disease (?dissection, especially if h/o chiropractor or unsupervised yoga)

chronic small subdural haematoma from 2 weeks ago with no focal deficits or AMS - no need to evacuate

on the same track, if neurological decline is slow, then you can pretty much rule out epidural bleed

meningitis w/ PCN + cephalosporin allergy: USA vanc + moxifloxacin ± cotrimoxazole (OR) UK chloramphenicol ± cotrimoxazole (OR) meropenem monotherapy (mero covers Listeria!); all these regimens are acceptable here

Parkinson-like symptoms but LL rigidity > UL rigidity ± falls: this is ischaemic, NOT neurodegenerative! falls occur *late* in parkinsonian illness, not early

severe dementia (MMSE <10) is a contraindication for anticholinesterases; only memantine is approved for MMSE <10

Endocrine/Repro

insulin resistance → excess insulin production → defective/dystrophic lipogenesis → ectopic fat pockets → release of inflammatory mediators from fat pockets → upregulation of plasminogen activator inhibitor 1 (PAI-1) → inhibition of tPA → procoagulant state

X-linked vs AR adrenoleukodystrophy: AR (Zellweger's) presents in infancy, is rapidly progressive and kills in adolescence; X-linked presents in adolescence and is far more indolent and survivable

rapid improvement in blood glucose is actually assoc w/ acute worsening of microvasculopathy (esp retinopathy); long term improvement in blood glucose is ofc assoc w/ bettering of microvascular dz

Rheum/Derm/Immuno

anti-ribosomal P Abs are specific for lupus encephalitis

hyaline cartilage (carTWOlage = type 2 collagen) is avascular and gets nutrition from synovial fluid diffusion

response to osteoporosis therapy → procollagen-1 propeptides (PICP, PINP, osteocalcin) (bone formation markers)

colloid plasma expanders, like opioids, directly act on mast cells to secrete histamine

GIT

generally, anti-TNFs are only used in IBD that is active despite use of 5-ASA + thiopurine + MTX; the exception is fistulous Crohn's, when anti-TNFs are started ASAP

King's College criteria for APAP-induced ALF for txp referrak: I ACHE (INR >6.5, Acidosis w/ pH <7.3, Creat >3.5 mg/dl, Hepatic Encephalopathy grade 3)

CT is scan of choice for acute pancreatitis; CT is usable in chronic panc but MRI (MRCP) is ideal

80-90% of pancreatic cancers are assoc w/ KRAS2+; only 50% are assoc w/ p53-

by the way! faecal elastase/trypsin is the best measure of chronic pancreatitis, w/ elastase <200 mcg/g being diagnostic

in hepatorenal syndrome, terlipressin causes splanchnic vasoconstriction and reduces splanchnic volume, as well as reducing afferent arteriole pressure and thence renin secretion

SIBO vs short bowel syndrome: SIBO causes not just diarrhoea but also bloating and abdominal discomfort but not marked fat malabsorption and definitely not oxaluria/oxalate stones; both cause folate/B12 deficiency, dehydration, electrolyte disturbances

Onc/Haem

slight increase in PT/aPTT or slight drop in platelets will NOT explain large scale ecchymotic bleeds; in such a patient who is also taking aspirin, blame aspirin

generally, B-cell lymphomas are more common than T-cell lymphomas

that said: Sézary is a form of advanced, more virulent mycosis fungoides (MF: patches of erythema, SS: widespread erythroderma ± keratoderma as well as leukaemic infiltration of marrow)

ID

MTB doubles in 1 day; T. pallidum doubles in 2 days; M. leprae doubles in 2 *weeks*

Pharm/Toxo

cranberry juice is not as bad a culprit as grapefruit is, but it also has some pretty significant interactions (especially 2C9 which metabolises eswarfarin, the active enantiomer of warfarin; expect INR to skyrocket)

100 mg desferoxamine chelates 8 mg iron

[tabloidtoc]

Globe, August 31

Cover: Prince William and Prince Harry seeking the truth about their mother Princess Diana’s death -- Diana exhumed again 

Page 2: Up Front & Personal -- Sylvester Stallone, pregnant Lea Michele, Jason Priestley wears a mask while picking up a package 

Page 3: Alessandra Ambrosio puts on shorts at the beach, Scott Baio riles up the crowd at a political rally in L.A., Sofia Richie strolls along the beach in Malibu with a wineglass in hand 

Page 4: Music diva Mariah Carey is turning her back on her sister Alison who’s caught in a raging battle over revelations charging shocking sex abuse and devil worship -- while Mariah is out promoting her new bio due in stores next month her troubled older sis Alison is suing their mom Patricia for damages claiming she was forced to perform sex acts with strangers when she was as young as 10 during satanic gatherings that included ritual sacrifice 

Page 5: Rachael Ray and her husband John Cusimano and their dog Bella narrowly escaped death when a huge blaze tore through her luxury upstate New York home, Lady Gaga’s sharp dance moves and killer manicure left fellow pop star Ariana Grande with a nasty scratch on her face as the pair rehearsed for a music video 

Page 6: Garth Brooks and wife Trisha Yearwood were terrified when their youngest child Allie was stricken with killer COVID-19 and the girl’s chilling brush with death turned their world upside down -- it hit them hard and reminded them about the importance of health and family and taking precautions plus how precious life is, Antonio Banderas has been laid low by COVID-19 -- he took to Twitter on his 60th birthday to reveal he tested positive for the deadly disease and is keeping himself quarantined 

Page 7: Nearly 4 years after her death Zsa Zsa Gabor is going on a farewell tour of Europe in a fancy dog carrier -- her last husband Prince Frederic von Anhalt plans to take the ashes of the icon to her favorite places in the Louis Vuitton pet case in which she carried her beloved dog Macho before burying her in her native Hungary -- Zsa Zsa’s former publicist Ed Lozzi slams her husband’s scheme saying she would have wanted to be buried beside her only child Francesca and sister Eva Gabor in Hollywood’s Westwood Cemetery 

Page 8: Fearing she’s losing ground in her continuing custody battle with Brad Pitt Angelina Jolie is demanding the judge deciding the dispute be booted from the case -- Angie insists that Judge John W. Ouderkirk be ousted claiming he’s a business crony of a lawyer working for Brad but Brad’s fighting to keep the judge on board and he thinks Angie’s desperate and willing to do anything to trip him up because she’s backed up against a wall, Alyssa Milano claims her brush with COVID-19 has left her losing her hair -- she was struck by the dangerous disease back in April and spent time in a hospital and recently in a Twitter video she brushed her wet locks and pulled a large clump of separated strands 

Page 9: Simon Cowell is facing a life of agonizing pain and possible paralysis after a horrific bike accident left him with a back broken in three places and a rod inserted in his spine -- he may be left with what’s known as failed back syndrome which is chronic back pain that remains even after successful surgery or even more chilling may lose control of his legs and arms if the rod doesn’t hold and the vertebrae collapse 

Page 10: Demons do exist swears exorcist Bishop Plato Angelakis who for the first time reveals his terrifying battle with an evil fiend that possessed a granny-aged woman and gave her the strength to overpower four grown men 

Page 12: Celebrity Buzz -- Billy Dee Williams out and about in L.A. (picture), there was a backstage battle between The Office star John Krasinski and producer Greg Daniels in season three of the smash comedy Daniels wigged out when John who played scruffy-haired sales guy Jim Halpert begged for a haircut in an attempt to launch a big-screen career by starring alongside George Clooney and Renee Zellweger in Leatherheads but the boss said no -- determined to nab the juicy role John recruited the show’s hairstylist and paid for a human hair wig and fooled the cast and crew, no funny business involved when it comes to Amy Schumer making sex appointments with husband Chris Fischer because without them you’re just roommates, Paris Jackson broke off her two-year relationship with Gabriel Glenn because she just couldn’t figure out who he was, Melissa Joan Hart is starring in Dear Christmas an upcoming Lifetime romance with her real-life teenage crush Jason Priestley who is playing a handsome firefighter who warms Melissa’s heart for the holidays, no baby talk is the rule for Marie Osmond’s husband Steve Craig who hates it when she calls him cutesie names 

Page 13: Scruffy Jude Law in London (picture), Mindy Kaling out and about in a mask (picture), Goody Grace and Kate Beckinsale wear masks while shopping (picture), Heidi Klum is packing on the pounds during the COVID crisis confessing she can’t zip up her old clothes and doesn’t fit in her favorite jeans anymore 

Page 14: Tiffany Haddish has lost 20 pounds since hooking up with boyfriend Common, Jennifer Lawrence sold her NYC money-pit apartment for $9.9 million which she bought in 2016 for $15.6 million but at least now she can stop paying the ritzy building’s ridiculously steep $5700 monthly fees and the $100,000 cost for taxes and insurance and upkeep, Fashion Verdict -- Tina Fey 3/10, Sarah Paulson 7/10, Emily Blunt 1/10, Aubrey Plaza 8/10, Olivia Wilde 2/10 

Page 16: Dwayne “The Rock” Johnson has topped a list of Hollywood’s highest paid actor hauling in a hefty $87.5 million this year followed by Ryan Reynolds and Mark Wahlberg and Ben Affleck and Vin Diesel at $54 million, Lisa Marie Presley’s future looks grim as her liver problems have roared back and she faces death if the vital organ fails -- she’s been battling liver ailments and an abdominal muscle tear for some time forcing her to seek treatment in the days before the heartbreaking suicide of her son Ben Keough 

Page 17: The late Crocodile Hunter Steve Irwin’s daughter Bindi Irwin has made it official that she’s pregnant, scores more women have come forward to accuse porn star Ron Jeremy of rape and sexual assault dating as far back as two decades just a few weeks after he pled not guilty to sex offenses against for West Coast women 

Page 19: 10 Things You Don’t Know About Alex Winter, for Grey’s Anatomy star Ellen Pompeo the show is all about the Benjamins saying she made a decision to make money and not chase creative acting roles and for her a healthy home life was more important than career, thugs robbed Alanis Morissette at gunpoint and nearly grabbed all her work for her 1995 hit album Jagged Little Pill

Page 20: True Crime 

Page 23: Scandal-savaged Ellen DeGeneres wants to put her woes on pause and pamper herself with a morale-boosting plastic surgery blitz -- she’s been rocked by sinking ratings and allegations of a toxic work culture and the strain has made an ugly impact and it shows in the bags under her eyes and the saggy cheeks and jaw and she’s breaking out and her skin looks blotchy from all the stress she’s been under and even with makeup on she looks haggard, grieving mom Melissa Etheridge admits she steeled herself for the possible death of her drug-addled son Beckett 

Page 24: Cover Story -- new Princess Diana death probe -- Prince William and Prince Harry have secretly arranged for the body of their late mother to be exhumed for a second time and subjected to another autopsy in a desperate last-ditch bid to learn the truth about her death in Paris 23 years ago -- the brothers suspect Diana’s death may have been ordered by the same people who forced Harry’s wife Meghan Markle to flee Britain -- William is worried his wife Duchess Kate Middleton may be in danger too 

Page 26: Health Report -- miracle drug slams brakes on MS 

Page 33: Debra Messing dropped from a size eight to a twiggy two while filming Will & Grace and says the extreme slim-down harmed her health

Page 38: Real Life -- Victoria Price of WFLA in Tampa gushed with appreciation after an eagle-eyed viewer pointed out a bump on her neck that turned out to be a deadly thyroid cancer

Page 44: Straight Talk -- Earth to Luann de Lesseps: quit being a boozy floozy 

Page 45: Tiger Woods is set to marry Erica Herman if she signs an ironclad prenup to protect his $800 million fortune -- Tiger has agreed to wed Erica but he’s still gun-shy after shelling out a record $750 million to divorce first wife Elin Nordegren after he was caught in a sex addiction scandal 

Page 47: Hollywood Flashback -- Kate Winslet and Leonardo DiCaprio in Titanic, Bizarre But True 

[newagesispage]

                                                                            MARCH    2020

PAGE RIB

 The Stones are touring the U.S. again.

*****

Paul Reubens is touring with Pee Wee’s Big Adventure.

*****

Al Franken is touring.

*****

Keenan Thompson and Hasan Minhaj are bringing comedy back to the White House Correspondents dinner on April 5.

*****

Days alert: There is some casting news but most of this won’t show up until the fall. Word is a couple of newbies will be Remington Hoffman who will play Li Shin, son of Mr. Shin and Emily O’Brien may join the cast. Nadia Bjorlin (Chloe) may be on her way back. Let’s bring the original Phillip back for her!!! Brandon Barash (Stefan) will return as well as Louise Sorel ( Vivian )and Alison Sweeney ( Sami). Judi Evans is headed back. Will she play Adrienne or Bonnie?? It looks like Casey Moss (JJ), Freddie Smith (Sonny), Chandler Massey (Will) and Galen Gering (Rafe) mill head out for awhile.

*****

It looks like Friends freaks will finally get their reunion on HBO. I am glad they aren’t bringing the characters back and are just getting together to talk about their time together.

*****

Downhill hit theatres on Valentine’s Day with Will Ferrell, Julia Louis- Dreyfus and Zoe Chao. The film was written and directed by Nat Faxon and Jim Rash.

*****

The more I see of it, the more I LOVE Stumptown, the best show that nobody seems to know about. Please renew ABC!!!!!

*****

So.. Rush Limbaugh got the Medal of Freedom.  Oh my.

*****

Shadow Inc. owned by former Clinton and Obama staffers made an app that thoroughly fucked up the Iowa caucus. It was good at calculating the results but not delivering them.  And hey.. Wolf Blitzer, stay off the phone with people that are trying to get those results. Let them just do their job!!

*****

Brooklyn 99 is back and Vanessa Bayer is there!!!

*****

Rod Blagojevich is out and hitting every show that will have him. Trump pardoned him along with 10 other criminals including Ed DeBartolo Jr., Mike Milken and Bernard Kerik.

*****

Forty thousand kids won’t get free lunch because Trump threw them off food stamps. The two usually go hand in hand. Getting food stamps automatically sets a kid up for the free lunch program.

*****

Over 1000 former DOJ officials have asked Bill Barr to resign.** 70 former Senators have written an open letter to congress to tell them they are not fulfilling their congressional duties.**” Yoo Hoo! Bush, Clinton, Carter, Obama, you’re up.” –Patricia Arquette

*****

Pete Davidson and Kaia Gerber have split.

*****

Indiana Beach is closing after 94 years.

*****

Denny Hamlin won the 2020 Daytona 500.

*****

Can’t we get some real gigs for Rainn Wilson and Curtis Armstrong? Ok, so Cyrtis Armstrong was on Stumptown so thank goodness for that! They can do better than Dominoes and Little Caesars ads. And how funny is it that Dominoes, known for its very Chrustian owners use a Risky Business ( a film about prostitutes) ad for their product. Hmm.

*****Hey.. Comics, quit bringing up Trump and his former womanizing. It didn’t work with Clinton and it won’t work here. People just don’t seem to care. Focus on the real damage he is doing.

*****

Scary Clown is working on opening nearly a million acres of land in Utah for energy exploration that had been a National monument. Redford and Romney can’t be happy about that.

*****

A new animated series from a brand new production company owned by Natasha Lyonne and Maya Rudolph looks promising. Look for The Hospital.

*****

Southern Illinois University is giving Bob Odenkirk an honorary degree.

*****

Ukranian immigrants Lt. Col. Vindman and his twin brother are out. Ambassador to the EU Sonland is out.

*****

The Democrats had a debate on Feb. 7 . At Andrew Yang’s first chance to speak, he rehashed his stump speech. I mean, c’mon give us something new. There really seemed to be a restrained nervousness on the stage that night. Klobachar seemed too needy but she got great reviews. Biden called Buttigieg ‘a friend ‘ a couple of times. Mayor Pete did quite well. ** Deval Patrick is out** Andrew Yang is out.**Michael Bennet is out** Another debate was on Feb. 19.** Bloomberg/Yang? Is this true?

*****

Check out the new series, Hunters. It is awesome, funny and terrifying!

*****

Dozens of Native American women and girls have disappeared from Big Horn county, Montana over the last few years. The victims were later found dead and Trump has put a federal task force together.

*****

Grassley and Wyden are trying to get lower prescription drug prices but Moscow Mitch won’t bring the proposal to the floor. Others are looking to get some traction on HR3.

*****

JSW Steel has sued the Trump administration for refusing to exempt it from paying the levies on slabs of steel that the company imports.

*****

64 women have filed sexual harassment or discrimination lawsuits against Mike Bloomberg. I’m not a fan of the guy but it does seem sort of coincidental.  It does not seem to matter cuz all his ads seem to be working, he is picking up steam. Tom Steyer is gaining a bit of momentum as well.

*****

The corona virus has brought us Covid 19. 600 people are being held in quarantine camps that the military has set up.  Italy has new cases and the disease is spreading. Scary Clown is trying to spin it all.

*****

ICE is being sent into sanctuary cities to cause trouble for immigrants.

*****

You have to check out Horse girl with Alison Brie, Molly Shannon and Matthew Gray Gubler on Netflix .

*****

Rapper Larry Sanders AKA LV is letting us in on a miscarriage of justice he has had to live thru. LV, best known for his work on Coolio’s Gangsters Paradise, was approached by police and later put on the Calgang database. The practice put about 80,000 mostly African Americans on a sort of gang list. In a 2016 audit it was found that there were many inaccuracies including the names of babes who could not possibly be gang affiliated.

*****

Nature does not need people. People need nature. –Harrison Ford

*****

The Clark bar is back. The roll out has started in Pittsburgh and will soon spread across the country.

*****

Scientists have found some turtle fossils that are the size of a car in South America.

*****

U can donate to the Trump campaign and may win a yaqut and hunting trip with Don Jr. The Beach Boys will perform.

*****

The Oscars were held Feb. 9. Brad Pitt and the production design team won for Once upon a Time in Hollywood. Woo Hoo! Word is that Pitt has hired a speech writer to write his acceptances. JoJo Rabbit won for adapted screenplay. Little Women won for Little Women and Toy Story 4 for animated film. Laura Dern won best supporting actress. Renee Zellweger and Joaquin Phoenix too home the top actor prizes. Parasite surprised everybody and won best pic and got Bong Joon Ho a best director statue. My best dressed were Billy Porter, Antonio Banderes and his date, Janelle Monae ( her opening seemed to make some in the audience uncomfortable), Robert DeNiro, Laura Dern, Diane Ladd, Geena Davis, Regina King, Charlize Theron, Adam Driver, Joanne Tucker, Cynthia Erivo, Scarlett Johansson, Natalie Portman and Kathy Bates, I don’t know what Kristen Wiig and Idina Menzel were thinking. Wiig always has a unique style so I have to admire that. ** The ratings were down. I have heard people saying they just don’t watch award shows or late night shows anymore because they are afraid things will get political. Funny, that is part of the reason I watch!

*****

Tom Papa was pontificating about a real dog show that should have REAL dogs. It would make a great weekly show with people bringing on their dogs.

*****

The goalies of the Hurricanes were out of commission and David Ayres, the Zamboni driver was brought in to help and the won against the Maple Leafs. Woo Hoo!!

*****

Hooray for New Hampshire and their use of paper ballots. Things in the campaign got a little shook up with Bernie taking the top followed by Pete and Amy.

*****

2 years of research in Canada has brought the announcement of a new discovery. Skull fragments  that were cleaned and collected about 10 years ago have been named Thanatotheristes or the reaper of death. The discovery helps us all learn more about the early times of Tyrannosaurids, a sub group that includes T.Rex.

*****

New Jersey has a ban on self- serve pumps and another state is talking about getting in on the action.  The gas station attendant act has been proposed in Illinois.

*****

Van Jones was right when he said we shouldn’t give Trump any press coverage for a week. He would hate it. Trump loves the old adage of bad publicity is better than none because he just must have attention. It would never work for they just can’t resist.** Joe Mcguire is out after he warned of Russian interference. If you want to keep your job in this administration, do not tell the truth. Now at the Department of National Intelligence is Johnny Mcentee , a 29 year old former football player who worked on the campaign. He immediately called department heads and said he wanted lists of never Trumpers in their offices. ** And who is in charge of weeding out the people in the government who may be disloyal to Scary Clown? Well, it is none other than Virginia Thomas, wife of Supreme Court justice Clarence. She calls it the list of snakes. Trump is now saying he even wants liberal judges on the Supreme Court to recuse themselves when it comes to “Trump related cases”. It just keeps getting worse.

*****

Trump had fun in India. He should, his business has 5 projects going there right now worth 1.5 billion.

*****

Harvey Weinstein was found guilty of rape and criminal sexual assault. He was not found guilty of all the charges that included predatory behavior.

*****

Andrew Yang is a new correspondent at CNN. He tells us that he is getting word from former donors that Bloomberg is calling those big donors. Allegedly he is telling them they do not have to donate to his campaign because he can afford his own campaign but he still won’t forget them. He would like them to save their money and not give money to other democrats running either.** And I am so sick of talking heads trying to tell us to play it safe. We are not as stupid as we look, thank you!! ** Now there is a firestorm about Bernie telling the world that the education program that Castro implemented was a good thing. I understand the anger and it could not have come at a worse time and he did it to himself. BUT..  We are adults and we have to be able to talk about things as they really are, not in sound bites. Castro sucked and history teaches us that bad people do good things occasionally and good people do bad things once in a while. ** It seems that everyone was in agreement that we would all gather behind the winner of the democratic campaign to beat Trump. Suddenly when it could be Bernie, everybody is bitching.

*****

This month held 2 more Democratic debates. The Nevada debate got pretty heated. I see that Mayor Pete and Bloomberg are lefties (left handed that is). Pete always looked poised and articulate which I appreciate and he got in a good one when he mentioned that the party should choose someone who is actually a democrat.  Bernie seemed a little rattled by that. Later Pete really dressed down Amy Klobuchar and made himself look like a dick. Joe Biden jumped in with his credits occasionally but often seemed a bit lost. He slammed back that they were all talking about the health care plane he helped to create and that he himself had dealt with the Mexican President. His name came up after it was mentioned that Amy could not remember the President’s name. The gloves were off with Bloomberg as Elizabeth Warren called him out on Billionaires and NDA’s. I loved the interaction but realistically Mr. Mike can’t just release people from agreements they made in an NDA, especially if it did not involve him. Bloomberg sounded pompous and clueless about the world outside of his company. He got a moan when he said he couldn’t exactly use turbo tax and when he said he may have told a few jokes that women didn’t like. He brushed off his taxes much like Trump does. The former mayor of NY called out socialists as communists. Klobuchar had the best comeback of the night when she was told her health care plan could fit on a post it. She proclaimed that the post it was invented in her state of Minnesota. Again, there were people shouting from the audience as Joe tried to talk. C’mon give everybody an equal chance.

*****

The South Carolina debate was fiery as well. The CBS debate was hosted by Gayle King and Norah O’Donnell. Bloomberg was booed right off the bat about Russia helping Bernie but he late had many cheers. He and Biden and Steyer had some real support there. Tom Steyer was actually quite impressive and seemed well spoken.  He was the only one who brought up the impeachment. He had a great point that we all know that republicans who did not convict Trump are complicit in the Russian meddling. Then he ruined it all by being alarmist with his fear. He warned us off the former republican and the socialists. I loved Bernie’s ideas about small business’s getting in on the marijuana business and not letting big corporations taking it over. He is also the only one in debates that I have seen consistently bring up Native Americans.  Biden again kept jumping in to tell us that he did this or that. Amy disagreed about a bill he claimed to have written. Warren said “dig in” numerous times. She went for the jugular with Bloomberg when she said a former female employee of his said to “kill it” in response to her pregnancy. He denied it but it sure is memorable. She did make great points that he has given much money to Linsey Graham’s campaign as well as other republican runs including against her. BTW he also gave 2.3 mil to Rick Snyder, the Gov of Michigan after the water crisis was well known.  I love that Amy is always saying that we shouldn’t fight amongst ourselves but she just does not have the votes so she needs to go. Bernie got some boos about guns for he seems the softest in that area.

*****

Joe Biden won the South Carolina primary in a big way.

*****

Dick Van Dyke, Sarah Silverman and Public Enemy among others will be at the Bernie Sanders rally in L.A. on March 1.

*****

Just think what the 400 million that Bloomberg spent on his campaign could have done for the debt of the average American.  Instead of a campaign for a presidency that he can’t win, he could have helped so many get a leg up.

*****

I don’t understand why “respected” journalists like Chuck Todd don’t throw W H reps off the set when they disrespect him or his colleagues with fake news jabs.

*****

Bob Moore of Bob’s Red Mill is giving his company away to his employees. Now, that’s a boss!!

*****

Bone, Thugs and Harmony have made a deal with Buffalo Wild Wings to rename themselves Boneless thugs and Harmony. The publicity stunt is to promote boneless wings.

*****

NASA is hiring.

*****

Scotland has made feminine sanitary products free!!

*****

Is this true? There were pigeons in Nevada with MAGA hats glued to their heads??

*****

The final Criminal Minds has aired. CBS often aired double episodes which made it seem like they really wanted to get rid of it. Kirsten Vangsness and Erica Messer wrote the final episode which seemed to give special attention to Penelope and Reid as they were the originals. The other characters seemed a little overlooked but they all had happy endings. Where was Reid’s new girlfriend?  I was hoping to see Shemar Moore but it was great to see Reisgraf and Howell which are old favorites.

*****

Animal Kingdom returns to TNT on May 28.

*****

So there is a bit of a mess with the Roger Stone sentencing. Trump is hopping mad about the long sentence recommendation, Barr is said to be pretending to spar with the Prez, the DOJ is backing down and people are resigning.

*****

R.I.P. Shirley Jean Cade, Robert Conrad,  Katherine Johnson, Lyle Mays, B. Smith, A.E. Hotchner, Bashir Jackson, Ja’net Dubois, Pat Agee, victims of the Molson Coors shooting and Orson Bean.

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Zellweger Spectrum Disorder Market Will Escalate Rapidly in the Near Future

Zellweger Spectrum Disorder Market Overview

According to the latest research by Future Market Insights, the Zellweger Spectrum Disorder market will witness growth during 2021-2031.

Zellweger spectrum disorder consists of Heimler Syndrome, Infantile Refsum Disease and Neonatal Adrenoleukodystrophy. With new advances coming up in genomics, novel ways to treat and manage ZSD in a way that gives the minimum discomfort to the victims of this disorder are being researched and trialled.

 These will further boost the market during the forecast period.

Being a rare disease, not much was known about ZSD. But now with soaring research investments, better clinical understanding is beginning to build.

This will boost early diagnosis of the disorder which help in mapping appropriate treatment plans. Ultimately, all of these factors will amount to a global market growth.

What is Driving Demand for Zellweger Spectrum Disorder Market

Zellweger spectrum disorders is group of inherited autosomal genetic conditions where most of the organs of the human body are affected.

This disease happens due to mutation of a specific gene called as PEX-gene which makes it defective, showing early signs like high forehead, muscular hypotonia, seizures, vision and hearing difficulties, etc. soon after birth. Therefore, the rising genomics research an important factor to boost its market.

This disorder is pretty rare as 1 in 50,000 new-borns get affected due to ZSD.

The novel corona virus has swept the entire globe and hence in finding a cure against it has boosted the research and development faction.

Aggressive research in finding answers towards the previously less researched and rare diseases like zellweger spectrum disorder is gaining popularity as healthcare professionals are wanting to be entirely prepared for any similar occurrence in the future. Making it one of the most important driving factors which will contribute in its growth.

For more insights into the market, request a sample of this report@  https://www.futuremarketinsights.com/reports/sample/rep-gb-13942

Genetic Counselling for Zellweger Spectrum Disorders

"At birth, there is 25% chance of the sibling of new-born getting affected and 50% chance of that individual being a carrier with no symptoms and 25% chance of being asymptomatic and not a carrier." says the study done by University of Washington. So, pertaining to this, testing of relatives of the identified affected individual can be undertaken.

Also counselling of these probable carrier individuals to do a prenatal DNA testing in order to plan a timely management of zellweger spectrum disorders can be done.

As, prevalence of this disorder cannot be avoided. Early detection of this disorder will certainly help in early treatment and thus boosting the market.

U.S. and Canada Zellweger Spectrum Disorder Market

With state-of-the-art healthcare as well as ceaseless researches going on foreshadows that U.S will dominate the North American market.

Presence of a mandate for zellweger screening test for new-born babies added to availability of highly developed diagnostic equipments will aid U.S in dominating the zellweger spectrum disorder market.

Rising initiatives for detection, prevention and treatment of this disorders is helping in boosting the awareness of this disorder.

Europe Zellweger Spectrum Disorder Market

The second dominant market in zellweger spectrum disorders will be Europe. New-born testing for ZSD is taking a grip after US making it mandatory.

Dedicated research with various collaborations are also underway in order to ensure proper testing facilities and kits are available for the new-born testing and various other verticals for management of this disorder.

Furthermore, presence of players in like Centogene N V (Germany), Asper Biogene LLC (Estonia). in the region is likely to augment ZSD market growth.

For any queries linked with the report, ask an analyst

https://www.futuremarketinsights.com/ask-question/rep-gb-13942

Who are the key Manufacturing and Supplying Companies in Zellweger Spectrum Disorder Market

Key Players:

Invitae

Blueprint Genetics Oy

Centogene N V

Gene Dx Inc.

Asper Biogene LLC

Eugene labs

GE Healthcare

Philips Healthcare

Siemens Healthcare

Trivitron Healthcare

Care Stream Healthcare

AGFA Healthcare

Shimadzu

Hitachi Medical.

The report is a compilation of first-hand information, qualitative and quantitative assessment by industry analysts, inputs from industry experts and industry participants across the value chain.

The report provides an in-depth analysis of parent market trends, macro-economic indicators and governing factors along with market attractiveness as per segments.

The report also maps the qualitative impact of various market factors on market segments and geographies.

Zellweger Spectrum Disorder Market Report Highlights:

Detailed overview of the parent market

Changing market dynamics in the industry

In-depth market segmentation

Historical, current and projected market size in terms of volume and value

Recent industry trends and developments

Competitive landscape

Strategies of key players and products offered

Potential and niche segments, geographical regions exhibiting promising growth

A neutral perspective on market performance

Must-have information for market players to sustain and enhance their market footprint

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NOTE - All statements of fact, opinion, or analysis expressed in reports are those of the respective analysts. They do not necessarily reflect formal positions or views of the company.

Key Segments

By Treatment Type:

Audiological

Ophthalmological

Orthopaedic

Paediatric

Neurological

Surgical

By Diagnostic Tests:

Blood test

Urine test

Ultrasound

Genetic tests

By End User:

Hospitals

Clinics

Health Centres

Diagnostic Centres

Genetic Testing Laboratories

By Region:

North America

Latin America

Europe

South Asia

East Asia

Oceania

Middle East & Africa

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[seoprojectoffpage]

Cholic acid is a bile acid used to treat patients with bile acid synthesis disorders caused by single enzyme defects. This medicine is also used to help treat patients with peroxisomal disorders (including Zellweger spectrum disorders) who have symptoms of liver disease, steatorrhea, or have difficulty in absorbing fat soluble vitamins

[treatmentinayurveda-blog]

Fundamentals Of Polycystic Kidney Disease Genetics

What is polycystic kidney disease?

The word polycystic means “containing many cysts.” Polycystic kidney disease is a disease that is caused by the accumulation of cysts in the kidneys and genetic flaws. These cysts contain fluid and stick together to form the clusters. PKD affects not only the kidneys but also some other organs such as the liver. The cysts hinder the functioning of the kidneys. It does not allow the kidneys to purify the waste from the blood. The development of cysts in kidneys leads to the uneven shape of the kidneys and cause kidney failure.

The problem of polycystic kidney disease comes with many complications such as hypertension, back pain, haematuria, urinary tract infections, abnormalities of the heart valve, and kidney stones. The person who suffers from the problem of polycystic kidney disease is at a high risk of swelling in the aorta. This swelling is known as aneurysms, and it can be a dangerous situation when this swelling is ruptured anyhow. There are two different types of polycystic kidney disease. These are autosomal dominant kidney disease and autosomal recessive polycystic kidney disease. The signs and symptoms of ADPKD begin to develop from an early age of adulthood; the cysts are present generally from childhood. This form of polycystic kidney disease can be classified further based on genetic reasons. As far as ARPKD is concerned, it is believed that the signs of this disease can be seen from a very early age or even when the child is an infant.

Polycystic kidney disease genetics

Let us understand the genes that cause the problem of polycystic kidney disease. Polycystic kidney disease is one of the most common genetic causes of kidney failure in children as well as adults. The growth of the cysts takes place in the epithelia of the kidney nephrons. Now, let us read about the genes of ADPKD and ARPKD.

ADPKD: ADPKD is a prevalent type when we talk about the types of PKD. It can harm both children and adults. Gene mutation is the reason for this disease. When the mutation of gene PKD1 on chromosome 16 takes place or the mutation of PKD2 on chromosome 4. Cysts in kidneys can also develop because of some other genetic diseases such as von Hippel-Lindau disease, Zellweger syndrome, tuberous sclerosis, and juvenile nephronophthisis. We can say that ADPKD is genetically heterogeneous.

ARPKD: This type of PKD is said to be very uncommon, and it profoundly affects the children. It happens due to the mutation of gene PKHD1 on chromosome 6. The genes do not affect the parents of children who have ARPKD, but they are simply the carriers of mutated genes.

Allopathy denies the treatment of this disease and suggests with some medications that can provide the patient with a temporary solution to the condition. Ayurveda said for PKD, Ayurvedic treatment to be the best treatment for PKD conditions. It provides you with natural treatment and has zero side effects.

Treatment of PKD

There are many reasons why allopathy believes that polycystic kidney disease has no treatment; genetics is one of the important causes of it. The treatment of polycystic kidney disease can be found near you most naturally in Ayurveda. According to Ayurveda, consumption of plain water and elimination of caffeine can help in slower growth of cysts in the kidneys.

Natural herbs will do wonders to your condition and take you out from such a deadly disease Herbs like Shirish, Kashi, Punarnava, and many more can help in keeping the kidneys healthy more naturally. It prevents the retention of fluid. Some antibiotics in Ayurveda also help in keeping the kidneys cyst free and healthy.

[snumn]

Yesterday we took part in #PauseforPBD but every day I hold space for my friend Katie. Mum to TJ who has PBD. The long name? Peroxisomal Biogenesis Disorder (also known as Peroxisomal Biogenesis Disorder-Zellweger Spectrum Disorder PBD or PBD-ZSD) It is a rare, devastating, life limiting disease, often fatal, disease that affects every cell of her son’s body, and every moment of their lives. I will only post one organization for direct donation on my Instagram feed and this is it. Your support of will help to further the mission of the GFPD, which collectively focuses on helping families COPE through support, advocacy, and educational initiatives, while promoting HOPE by funding research to uncover potential treatments for the many symptoms of PBD. Funds received will support the following program initiatives: • Continuing to fund and promote research towards treatments for PBD. • Providing networking and collaboration opportunities for scientists, physicians, and thought leaders in the rare disease space to work towards innovative treatments for PBD. • Supporting GFPD families at Family and Scientific Conferences and Regional Meetups. • Supporting GFPD families through the equipment exchange program and medical and educational advocacy programs. your support as they fight to find a treatment for all children affected by peroxisomal disorders. My friend Katie is the fiercest warriorMama on the planet and one of the leaders in the community dealing with this disease. Help her and the army of families dealing with PBD on the battlefield . Go to https://www.thegfpd.org https://www.instagram.com/p/B3RtGujgM2C/?igshid=5o553f07j936

[crimsonpublishers-pediatrics]

PEX12 Novel Mutation: A Case Report on Iranian Girl with Childhood Onset Peroxisomal Disorder: Pseudo ALD?: Crimson Publishers

PEX12 Novel Mutation: A Case Report on Iranian Girl with Childhood Onset Peroxisomal Disorder: Pseudo ALD? by Tabarestani S in Research in Pediatrics & Neonatology: Peroxisomal Disorder

Objective: To report a 7 years old girl with genetic and biochemical characteristics of zellweger spectrum disorder who presented with phenotype and neuro imaging findings of adrenoleukodystrophy.

Methods: Target gene sequencing was performed by using a custom designed panel for this patient with focused mutation analysis on 16 peroxisomal genes included in the panel. Sanger sequencing was used to confirm the identified mutation.

Results: This patient was homozygote for a missense mutation in exon 2 of the PEX 12 gene; c.541T>G (p.Tyr181Asp) which is a conserved residue in the N-terminal region crucial for localization to peroxisomes. Her parents and healthy sister were also found to have the same heterozygote mutation.

Conclusion: We suggest that PEX 12 gene mutations with a milder phenotype may be a potential candidate for posterior dominant leukodystrophy of childhood resembling X-linked ALD. This is entitled to pseudo- ALD and may be a diagnostic possibility in patients who develop ALD phenotype and neuroimaging particularly, in girls.

Keywords: Zellweger spectrum disorder; Childhood onset; Pseudo-ALD; PEX 12 gene; Novel mutationAbbreviations: PBD: Peroxisomal Biogenesis Disorders; ZS: Zellweger Syndrome; NALD: Neonatal Adrenoleukodystrophy; IRD: Infantile Refsum Disease.

https://crimsonpublishers.com/rpn/fulltext/RPN.000524.php

For more open access journals in Crimson Publishers

please click on https://crimsonpublishers.com/

For more articles in open access journal of  Peroxisomal Disorder

please click on https://crimsonpublishers.com/rpn/

[zenadinewesonga-blog]

How corrona virus has become a threat

[tabloidtoc]

Life & Style, April 6

Cover: 3 Weddings Canceled -- Jennifer Lopez, Princess Beatrice, Katy Perry 

Page 1: Photo Flash -- Amanda Bynes and on/off fiance Paul Michael used a sonogram to announce they were expecting a child together 

Page 2: Contents 

Page 4: The Top 10 Fringe Looks -- Heidi Klum, Zendaya, Hunter Schafer, Betty Gilpin, Angelina Jolie 

Page 5: Naomie Harris, Alice Eve, Hailee Steinfeld, Charlize Theron, Jessica Alba 

Page 6: Twinning -- Kaley Cuoco vs. Keltie Knight, Michelle Williams vs. Riley Keough, Chrissy Teigen vs. Emily Ratajkowski 

Page 8: New Tampa Bay Buccaneer Tom Brady left the New England Patriots because wife Gisele Bundchen didn’t like Boston 

Page 10: Fed up with his hard-partying ways Rosie Huntington-Whiteley is making Jason Statham put his bachelor pad on the market, Giacomo Gianniotti says season 17 will be the last for Grey’s Anatomy 

Page 12: David Schwimmer and Jennifer Aniston had a four-year on-again off-again affair during their time on Friends 

Page 13: Ramona Singer has Lyme disease, Madison Prewett may have gotten her heart broken by the Bachelor Peter Weber but she won’t be single for long because Selena Gomez is determined to find her perfect match, VIP Style -- Renee Zellweger (pictured), Derek Hough, Sophia Bush (pictured), Jesse Tyler Ferguson, Freida Pinto, Chris Harrison, Ali Krieger 

Page 14: The Week in Photos -- Jimmy Fallon and Emily Blunt played flight attendants in A Quiet Place parody 

Page 16: David Beckham played soccer in Miami with sons Brooklyn and Romeo and Cruz while wife Victoria Beckham and Brooklyn’s girlfriend Nicola Peltz watch from the sidelines 

Page 18: Ben Affleck took daughters Violet and Seraphina to a pet store 

Page 19: Joshua Jackson and Jodie-Turner Smith stepped out for brunch 

Page 22: Billie Eilish at her concert in Miami, Ashley Benson, Jenny McCarthy 

Page 24: Stars Behaving Badly -- Machine Gun Kelly and Pete Davidson give the finger, Alex Rodriguez picks his nose, Glen Powell and blow-up dolls 

Page 26: Say What?! Dakota Johnson on Timothee Chalamet, Keith Urban, Daniel Radcliffe, Katie Holmes, John Krasinski 

Page 28: Brittany Snow wed Tyler Stanaland during the coronavirus pandemic 

Page 29: Taylor Swift learning to cook British food for boyfriend Joe Alwyn 

Page 30: Cover Story -- The Weddings Are Off -- J.Lo blames A-Rod for her I Do delay 

Page 31: Pregnant Katy Perry suffers from cold feet 

Page 32: Frustrated Emma Stone falls to pieces, Princess Beatrice fears for Queen Elizabeth 

Page 34: Jennifer Garner tells Ben Affleck to keep new girlfriend Ana de Armas away from their kids 

Page 36: War over Archie -- Meghan Markle insists on keeping her 10-month-old son at a distance from upset relatives 

Page 38: After a family tragedy Tyler Cameron finds happiness with Hannah Brown 

Page 40: Jessie James Decker spring break sexy 

Page 42: Who Lives Here? Michelle Pfeiffer 

Page 44: Entertainment 

Page 45: Star Review -- Nicky Hilton, As Seen On-Screen -- Emily Blunt wore Dean Davidson’s Maiko Ring on Jimmy Kimmel Live 

Page 46: Beauty Beat -- skin so soft -- Carrie Underwood 

Page 50: Style Crush -- Emilia Clarke 

Page 52: Diva or Down-to-Earth? Down-to-earth Ewan McGregor and girlfriend Mary Elizabeth Winstead on the subway, Diva Meghan Markle has an umbrella squad 

Page 54: Social Stars Posts of the Week -- Julianne Hough and Nina Dobrev, Jennifer Lopez and daughter Emme and Billie Eilish, James Van Der Beek and his children, Brie Bella and Nikki Bella 

Page 56: Horoscope -- Aries Paris Jackson, They’re Not Together But They Should Be -- Capricorn Nina Dobrev and Scorpio Pete Davidson 

Page 58: Made Ya Look -- Martha Stewart tries Beyond Meat’s new plant-based Beyond Breakfast Sausage 

Page 60: What I’m Into -- Amanda Batula

[mcatmemoranda]

A congenital abnormality of amino acid absorption is associated with Hartnup disease. A defective neutral amino acid transporter on renal and intestinal epithelial cells prevents tryptophan absorption in the gut and increases its excretion in the urine. Tryptophan deficiency can lead to niacin deficiency, so these patients can present with symptoms of pellagra (diarrhea, photosensitivity, confusion, and ataxia).

Impaired oxidation of very long chain fatty acids is associated with Zellweger syndrome, an autosomal recessive disease characterized by the reduction or absence of functional peroxisomes in the cells of an individual. Clinical manifestations include failure to thrive, seizures, and nystagmus. Death usually occurs within the first year of life.

Inappropriate enzyme deactivation is associated with several pathologic conditions, both acquired and inherited. For example, hereditary pancreatitis is an inherited mutation in the trypsinogen-encoding gene. This leads to the production of dysfunctional trypsinogen that is resistant to deactivation by trypsin. These patients experience recurrent bouts of acute pancreatitis and are at increased risk for pancreatic cancer.

Lipoprotein lipase deficiency is associated with type I dyslipidemia, or hyperchylomicronemia. This leads to accumulation of triglyceride-rich lipoproteins in the plasma. Clinical manifestations include pancreatitis, hepatosplenomegaly, and eruptive xanthomas (lipid deposits beneath skin and along muscle tendons).

[anewsbuddy]

Hollywood power publicist and pal to stars Nanci Ryder dies | Entertainment

Hollywood power publicist and pal to stars Nanci Ryder dies | Entertainment

[ad_1]

Nanci Ryder, a powerful Hollywood publicist and co-founder of BWR Public Relations who became close to such stars as Renée Zellweger and Courteney Cox, died Thursday of Lou Gehrig’s disease in Los Angeles. She was 67.

Ryder was diagnosed with amyotrophic lateral sclerosis — or ALS — in 2014. The neurodegenerative disease gradually claimed her ability…

[nigeriannewsheadlines]

Renée Zellweger & Courteney Cox Support Longtime Friend and Publicist Nanci Ryder at ALS Walk 

For years Hollywood power publicist Nanci Ryder served as the spokeswoman for some of the industry’s biggest celebrity names; today, several years into her battle with the neurodegenerative disease ALS, which took Ryder’s ability to speak, her clients continue to show up to serve as her voice. At this year’s Los Angeles County Walk to Defeat ALS at L.A.’s Exposition Park, a slew of famous faces, from Nigerian News and Entertainment | Viatrends Blog https://ift.tt/33rp6gZ via IFTTT

[celebritylive]

For years Hollywood power publicist Nanci Ryder served as the spokeswoman for some of the industry’s biggest celebrity names; today, several years into her battle with the neurodegenerative disease ALS, which took Ryder’s ability to speak, her clients continue to show up to serve as her voice.

At this year’s Los Angeles County Walk to Defeat ALS at L.A.’s Exposition Park, a slew of famous faces, industry titans and fellow publicists — including Renée Zellweger, Courteney Cox, Adam Scott and top agent Bryan Lourd — once again rallied to Ryder’s call, wearing “Team Nanci” T-shirts as they participated in the annual fundraiser walk.

The famously feisty Ryder, who is today largely immobile and unable to talk, also made an appearance, sharing private moments with both Zellweger and Cox. The actresses also shared the stage before the walk, speaking to a large crowd of fellow supporters in the battle against ALS.

Zellweger told PEOPLE she continues to marvel at Ryder’s tenacious spirit, which she said remains vibrant even though she can no longer control her body.

RELATED: How Renée Zellweger, Reese Witherspoon and More Celebs Are Rallying to Help Friend Nanci Ryder Fight ALS

“Her disease has progressed, and she hasn’t spoken in about almost four years,” said Zellweger. “It’s just run its course as it does, but she’s leveled out and hanging in there, and her joy for life remains the same. Any time something new shows up that seems insurmountably difficult, she moves the goalpost. And to stand by her, and all of us here today to show up in support of her, it’s the least we can do.”

Still, Zellweger noted she still got glimpses of Ryder’s feisty side during a recent visit to the publicist’s home after a long stint traveling to promote her film “Judy,” in which she plays singer and actress Judy Garland.

“I walked over to her and I said, ‘Listen, I know they’ve been sending you my pictures, and I know they’ve been telling you hello from the various places in the world, and I know you’re mad at me because I’ve been gone for way too long,’” recounted Zellweger. “No expression. And I said, ‘I know that what you’re really telling me right now is that I can go f— myself.’ And she giggled. A quiet, wry smile climbs across her face. Yes — that’s my girl!”

“It’s hard to get her to smile and it means the world,” agreed Cox, who was represented by Ryder since the earliest days of her career. “It’s not fair to place something on a smile, but when you do get a smile from Nancy, it’s the best feeling in the world.”

Cox said that, like many friends and family members of ALS patients, she’s had to acclimate to her friend’s increasing physical limitations. “It’s hard because the communication isn’t what it used to be. When she first was diagnosed I was kind of able — she would let me in on the highs and the lows and the emotions and where she was. And it was really special and I was glad to be there to see and hear exactly what was going on with her. And she was always so strong. And now it’s harder to communicate and it’s sad. It’s sad. So I just really, all I want to do is just let her know that I love her and I’m here.”

RELATED: Renée Zellweger, Courteney Cox and Matt Bomer Walk to Defeat ALS in Support of Friend Nanci Ryder

Cox said she was glad to help shine light on Ryder’s journey if it helps the cause to find a cure for ALS. “It’s just about making sure people talk about it, raise awareness, raise funds, and just keep fighting it because there’s just a lot more work to do, although they’re making great strides,” she said. “You’ve just got to not give up.”

“It makes such a difference in the lives of the people who are navigating the disease and their families who are trying to find a way to help to support them,” said Zellweger. “It’s invaluable, certainly. And as it gets bigger and bigger, and more people show up, we get the word out. I mean, one thing leads to the next, and the science is propelled forward, and that’s what we need.”

“Honestly, I can’t say enough about the importance of contacting and becoming part of that community,” added Zellweger. “When Nancy was diagnosed, we didn’t know what to do. I was calling stem cell science and research in Korea, in Israel, in Germany — I mean, all over the world. And when you find the ALS Association you see, ‘Oh, no, they’re on top of that. They’ve already done all that.’ They’re doing that, and anything that is viable in terms of available treatment and science, they are on top of, and they can help to facilitate your access to that.”

Now that Zellweger is able to spend more time close to Ryder in Los Angeles, she hopes to share her latest film — in which her performance has generated considerable awards buzz — with her friend.

“I was hoping she would come to the premiere, but it’s just logistics are a little challenging, and she would get a little tired from all the noise and the people and everything,” Zellweger said. “So I’ll get her a screener and she’ll have it.”

from PEOPLE.com https://ift.tt/32dt2jF