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Outstanding People with Down Syndrome
This week we want to introduce Suj. Suj will be 33 years old on April 22nd. His mother recalls the day of his birth and how the news of his syndrome was delivered to them, "The news was abruptly communicated right in the delivery room by the medical team, who left the room a couple of minutes later with no words of support. No resources were provided to us."...Read Full Post
Source: About.com Down Syndrome - April 14, 2014 Category: Disability Source Type: news

Changing the face of Midaortic Syndrome treatment to save Sofia
The American Journal of Transplantation recently published a paper, documenting a first-of-its-kind treatment for midaortic syndrome, as performed by Khashayar Vakili, MD, of Boston Children’s Department of Surgery and Heung Bae Kim, MD, director of Boston Children’s Pediatric Transplant Center. In the following blog Marcus Groff, father of the patient described in the Journal of Transplantation, writes about his daughter’s revolutionary surgery at Boston Children’s. Sofia Two years ago my wife and I were anxiously waiting outside the NICU of our local hospital at four in the morning. Inside, our...
Source: Thrive, Children's Hospital Boston - February 25, 2013 Category: Pediatrics Authors: Guest Blogger Tags: All posts Diseases & conditions Heart conditions Our patients’ stories Heung Bae Kim kidney transplant midaortic syndrome Midaortic Syndrome and Renovascular Hypertension (MAS/RVH) Program our patients' stories Pediatric Transplant Cen Source Type: news

“I get them distracted.”
(Katherine C. Cohen/Boston Children’s Hospital) Nate Simons Patient Liaison I’m a patient liaison. That’s my official title, but I prefer greeter. I greet the families that come in and walk them to their appointment rooms. I play with the kids. The kids are so adorable. They’re so cute. Sometimes if they’re cranky, I play “Wheels on the Bus” on Youtube on my phone. I get them distracted with “Wheels on the Bus.” That’s my favorite song ever. I used to listen to it myself when I was a kid. I love my job. I have a great boss, and I love the pay. I work here part-time. I want to keep my jo...
Source: Thrive, Children's Hospital Boston - October 23, 2015 Category: Pediatrics Authors: Lisa Fratt Tags: Care Team Down syndrome Down Syndrome Program Source Type: news

Alagille Syndrome: A Case Report Highlighting Dysmorphic Facies, Chronic Illness, and Depression.
Authors: Bresnahan JJ, Winthrop ZA, Salman R, Majeed S Abstract Alagille syndrome is a rare multisystem disorder affecting the liver, heart, vertebrae, eyes, and face. Alagille syndrome shares multiple phenotypic variants of other congenital or chronic childhood illnesses such as DiGeorge syndrome, Down syndrome, spina bifida, type 1 diabetes mellitus, and cystic fibrosis. All of these chronic illnesses have well-established links to psychiatric conditions. There are few community resources for Alagille patients, as it is an extremely rare condition. Despite the overlap with other chronic childhood illnesses, the p...
Source: Case Reports in Psychiatry - December 27, 2016 Category: Psychiatry Tags: Case Rep Psychiatry Source Type: research

New cause for differential cyanosis : The North-South syndrome
Differential cyanosis classically occurs in PDA with reversal of shunt when raised PA pressures /PVR is able to supersede the systemic Aortic pressure and drive the blood from LPA to descending Aorta bringing down the lower limb saturation. Of course,  this can be undone by the presence of any other intra-cardiac shunts or aberrant left subclavian that arising from the desaturated descending aorta. Other causes of reversed differential cyanosis  Where the upper body is cyanosed (desaturated) and the lower half is not. There is a conventional list of conditions. Transposition of the great arteries (TGA) with patent ductu...
Source: Dr.S.Venkatesan MD - November 12, 2019 Category: Cardiology Authors: dr s venkatesan Tags: Uncategorized ecmo north south syndrome harlequin syndrome va ecmo side effects Source Type: blogs

Research reveals cause of premature ageing in Down ’s Syndrome patients
A study has uncovered the genetic cause of premature ageing in people with Down’s Syndrome, showing the process starts early in childhood and is not linked to co-morbidities of the disease. Researchers at Queen Mary University of London identified an overdosed gene on chromosome 21, resulting in genetic or chemical overactivity of the gene and... Read moreThe post Research reveals cause of premature ageing in Down’s Syndrome patients appeared first on Nursing in Practice.
Source: Nursing in Practice - July 20, 2023 Category: Nursing Authors: Carolyn Scott Tags: Paediatrics Downs syndrome genetics Source Type: news

Trends in maternal age distribution and the live birth prevalence of Down’s syndrome in England and Wales: 1938–2010
Trends in maternal age distribution and the live birth prevalence of Down’s syndrome in England and Wales: 1938–2010 European Journal of Human Genetics advance online publication, January 30 2013. doi:10.1038/ejhg.2012.288 Authors: Jianhua Wu & Joan K Morris
Source: European Journal of Human Genetics - January 30, 2013 Category: Genetics & Stem Cells Authors: Jianhua WuJoan K Morris Tags: Down’s syndrome maternal age live birth prevalence Source Type: research

Chloe ’s smile: Moving the needle on Williams syndrome research
“Because of your smile, you make life more beautiful.” ~ Thich Nhat Hanh Her wide, warm smiles are generous. Even strangers can’t resist smiling back. “Chloe loves people and relationships,” says her mom, Johanna. “She can completely change a person’s demeanor with one of her incredible smiles.” Now, Chloe’s powerful smile is bringing together supporters and scientists to advance research on Williams syndrome, the rare neurodevelopmental disorder she was born with 11 years ago. What is Williams syndrome? Williams syndrome is a genetic condition that affects 1 in 10,000 people worldwide. It causes a range ...
Source: Thrive, Children's Hospital Boston - May 16, 2017 Category: Pediatrics Authors: Jenny Fernandez Tags: Diseases & Conditions Our Patients’ Stories Research and Innovation Dr. Amy Roberts Dr. James Lock Dr. Leslie Smoot Heart Center Williams syndrome Source Type: news

Epidemiology of Stiff Person Syndrome in the United States Veterans Health Administration Database (P3.356)
Conclusions: This is the first ever comprehensive characterization of stiff person syndrome within the diverse national VHA population. Evaluation of stiff person syndrome within the VHA population allows for long-term disease evaluation and response to treatment.Disclosure: Dr. Galli has nothing to disclose. Dr. Greenlee has received royalty payments from MedLink and Merck. Dr. Paz Soldan has nothing to disclose. Dr. Clardy has received personal compensation for activities with the DAVICK Group and Trinity Partners. Dr. Clardy's spouse holds stock and/or stock options in Quadex. Dr. Clardy has received research support fr...
Source: Neurology - April 3, 2016 Category: Neurology Authors: Galli, J., Greenlee, J., Paz Soldan, M., Clardy, S. Tags: Neuroepidemiology: Movement Disorders, MS, and Stiff Person Syndrome Source Type: research

Gut microbiome and Metabolic Syndrome
Publication date: Available online 11 February 2016 Source:Diabetes & Metabolic Syndrome: Clinical Research & Reviews Author(s): Mohsen Mazidi, Peyman Rezaie, Andre Pascal Kengne, Majid Ghayour Mobarhan, Gordon A. Ferns The gut microbiome contributes approximately two kilograms of the whole body weight, and recent studies suggest that gut microbiota has a profound effect on human metabolism, potentially contributing to several features of the metabolic syndrome. Metabolic syndrome is defined by a clustering of metabolic disorders that include central adiposity with visceral fat accumulation, dyslipid...
Source: Diabetes and Metabolic Syndrome: Clinical Research and Reviews - February 12, 2016 Category: Endocrinology Source Type: research

Second opinion for midaortic syndrome gives Cameron a second chance
Cameron Grubb likes to shoot Nerf guns, and even his own doctors aren’t immune from his aim — in fact, they often fire back. It’s a playful act that everyone welcomes, however, particularly since this 6-year-old has defied the odds multiple times in his young life. Just three years ago, Cameron was struggling to survive after being diagnosed with extremely high blood pressure — so elevated, in fact, that his clinicians in Kansas thought the monitor must be broken. When they eventually confirmed the reading, it was 170/140, a dangerous level that sent him to the local intensive care unit for nine days. It wasn’t u...
Source: Thrive, Children's Hospital Boston - March 14, 2017 Category: Pediatrics Authors: Jessica Cerretani Tags: Diseases & Conditions Our Patients’ Stories Dr. Heung-Bae Kim Dr. Khashavar Vakili Dr. Michael Ferguson midaortic syndrome Midaortic Syndrome and Renovascular Hypertension (MAS/RVH) Program TESLA Source Type: news

Join my unique protocol to eliminate Syndrome Zero
Today I want to talk to you about how to beat the most urgent public health threat of our time — a condition I call Syndrome Zero. This condition is at the root of almost every chronic disease we face today — including obesity, heart disease, cancer, Alzheimer’s, arthritis, high blood pressure, metabolic syndrome, diabetes and even hip fractures. It already afflicts billions of people on the planet — and within a matter of decades, it will see nearly every man, woman and child in America suffer from at least one chronic disease. The good news is that this plague is stoppable. But here’s the problem… Mainstream ...
Source: Al Sears, MD Natural Remedies - November 7, 2017 Category: Complementary Medicine Authors: Cathy Card Tags: Anti-Aging Alzheimer's arthritis Cancer diabetes heart disease high blood pressure hip fractures metabolic syndrome obesity Syndrome Zero Source Type: news

Association of vitamin D status with metabolic syndrome and its components: A cross-sectional study in a population of high educated Iranian adults
ConclusionSerum levels of 25(OH)D was inversely associated with the risk of abdominal obesity, hypertension, and abnormal glucose homeostasis. However, no significant relationship was seen for metabolic syndrome.
Source: Diabetes and Metabolic Syndrome: Clinical Research and Reviews - July 5, 2018 Category: Endocrinology Source Type: research

Angelman Syndrome Foundation 2013 General Call for Research Proposals
The Angelman Syndrome Foundation announces the availability of up to $1,000,000 (USD) to be awarded in support of research on Angelman syndrome. Angelman syndrome is a neurodevelopmental disorder caused by deficiency of the ubiquitin protein ligase UBE3A in the brain. Applications in the preclinical, translational and clinical research areas that investigate all aspects of Angelman syndrome will be considered. Highest priority will be given to pilot projects to test new ideas about pathogenesis and therapeutics of Angelman syndrome. Researchers from all countries are encouraged to apply. One- or two-year grants will...
Source: ScanGrants feed - January 21, 2013 Category: Research Authors: Angelman Syndrome Foundation Source Type: funding