Results 151 to 160 of about 375,001 (340)

Gastrointestinal Issues in CHARGE Syndrome: Prevalence, Patterns, and Constipation‐Related Quality of Life

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gastrointestinal (GI) symptoms are common in CHARGE syndrome, but their frequency and characteristics remain poorly documented due to the complex nature of CHARGE syndrome. This study aimed to determine the prevalence of GI issues in CHARGE syndrome and their impact on quality of life (QoL).
Annie Kakamousias, Kim Blake
wiley   +1 more source

TREATMENT OF VESICO-VAGINAL FISTULA. [PDF]

ThosR.H. Thomson
openalex   +1 more source

Zur Pathologie und Therapie der Fistula colli congenita [PDF]

, 1893
Karewski
openalex   +1 more source

Stent grafting resolved brachial plexus neuropathy due to cervical arteriovenous fistula [PDF]

, 2004
Brandt, T., Herrmann, K., Mayer, T. E., Strupp, M., Zingler, V. C.   +4 more
core   +1 more source

Biliary complications after liver transplantation: With special reference to the biliary cast syndrome and techniques of secondary duct repair [PDF]

, 1977
In 93 consecutive cases of orthotopic liver transplantation, there were 24 examples of biliary obstruction and eight of bile fistula formation. Six of the obstructed livers developed biliary cast formation so extensive that the smaller intrahepatic ducts
Hansbrough, JF, Porter, KA, Putnam, CW, Reid, HAS, Starzl, TE   +4 more
core  

The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glycogen storage disorders are a group of genetic disorders affecting glucose homeostasis in the body. Muscular glycogen stores are essential for liberating glucose for energy supply during bursts of activity and sustained muscle work. Muscle glycogen storage disease 0 (GSD0B) is associated with biallelic variants in GYS1 causing muscular ...
Sarah Donoghue, Smitha Kumble, Pontus Wasling, Lars Alberg, Pia Linton‐Dahlöf, Yilmaz Yildiz, İlker Ertuğrul, Terry Derks, Dwight Koeberl, Emmeline Lagrange, Sabrina Vergnaud, Lidia Pezzani, Maria Iascone, Zornitza Stark, Adam M. Bournazos, Sandra T. Cooper, Gittan Kollberg   +16 more
wiley   +1 more source

A Case of Branchial Fistula [PDF]

, 1913
George Whale
openalex   +1 more source

Clinical significance of cardiac murmurs: get the sound and rhythm! [PDF]

, 2014
C
van Loon, Gunther
core   +1 more source

Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy, Adriana Gomes, Tinatin Tkemaladze, Omar Abdul‐Rahman, Drew Cratsenberg, Giulia Pascolini, Giovanni Di Zenzo, Daniele Castiglia, Emily Black, Camerun Washington, Lauren Chad, Cynthia Curry, Miguel Del Campo, Nicole Fleischer, Lynne M. Bird, Anna C. E. Hurst   +15 more
wiley   +1 more source

Aortic pseudoaneurysm with a fistula between the non-coronary sinus and right atrium: a case report

Monaldi Archives for Chest Disease
The authors present a case report of a 68-year-old man evaluated at the emergency department for repeated syncope, asthenia, and general malaise, suggesting heart failure in a patient with several comorbidities. At presentation, the patient was afebrile,
Paolo Toritto, Elena Cescutti, Igor Vendramin, Michela Puppato, Massimo Imazio, Stefano De Carli, Olga Vriz   +6 more
doaj   +1 more source