Results 71 to 80 of about 340,267 (341)

Gigantic Stomach: A Rare Manifestation of Duchenne Muscular Dystrophy [PDF]

, 2019
Duchenne muscular dystrophy (DMD) is characterized by degeneration and atrophy of skeletal, cardiac, and smooth muscles after a latent period of apparently normal development and function. The gastrointestinal manifestations start in the second decade of
Dhaliwal, Amaninder, Dhindsa, Banreet S., Hassen, Getaw W., Madiraju, Sarvani, Rochling, Fedja A.   +4 more
core   +2 more sources

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Does constipation affect the effectiveness of washed microbiota transplantation in treating autism spectrum disorders?

Frontiers in Neuroscience
PurposeWashed microbiota transplantation (WMT) has been shown to improve the symptoms of Autism Spectrum Disorder (ASD). It’s currently unclear whether the presence of constipation affects the efficacy of WMT in children with ASD.
Zihao Pan, Zheng Gao, Junyi Chen, Yongxi Quan, Jiating Xu, Xiaofeng Liang, Wenrui Xie, Xingxiang He, Xingxiang He, Lihao Wu, Lihao Wu   +10 more
doaj   +1 more source

Daily transcutaneous electrical nerve stimulation at home in a patient with Down syndrome [PDF]

, 2015
C
De Bruyne, Ruth, Renson, Catherine, Van Biervliet, Stephanie, Van Winckel, Myriam, Vande Velde, Saskia   +4 more
core   +2 more sources

Syndrome of the Month: An Update on Smith‐Kingsmore Syndrome: Characterization of Developmental Milestones and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith‐Kingsmore syndrome (SKS) is a rare autosomal dominant condition characterized by neurodevelopmental differences, macrocephaly/megalencephaly, describable facial features, sleep–wake abnormalities, hyperphagia, and overgrowth. SKS is caused by pathogenic gain‐of‐function variants in MTOR which lead to hyperactivation of the mTOR pathway ...
Carolyn R. Raski, Carlos E. Prada
wiley   +1 more source

Randomized Double-blind Controlled Trial: Benefits of Lactobacillus Reuteri in Chronic Functional Constipation Patients [PDF]

, 2015
Background: Chronic functional constipation is a common problem that affects between 15-25% of the population and cause symptoms and disorders that creates discomfort, morbidity, and high costs for health care.
Agustinus, T. (Taolin), Hasan, I. (Irsan), Shatri, H. (Hamzah), Simadibrata, M. (Marcellus)   +3 more
core   +2 more sources

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Uncovering anorexia nervosa in a biofeedback clinic for bowel dysfunction [PDF]

, 2012
Biofeedback is a conservative treatment based on behavioural techniques, which can be used in the management of bowel dysfunction. This article reports the results of a retrospective review of the clinical notes of 87 female patients attending a ...
Chelvanayagam, Sonya, Collins, B., Duncan, J., O'Brien, L.   +3 more
core   +1 more source

Homozygous Achondroplasia With Long‐Term Survival: Growth Patterns, Medical Interventions, and Practice Implications

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Homozygous achondroplasia is widely considered perinatal lethal by the medical community. In this case series, we report two children from a single family with longer‐term survival. One child lived for 17 months and the other was 60 months at the time of publication.
Hannah Singerline, Jason Laufman, Kimberly Wallis, Michelle Merrill   +3 more
wiley   +1 more source

Polyethylene glycol and prevalence of colorectal adenomas : Population-based study of 1165 patients undergoing colonoscopy [PDF]

, 2006
Background and aim — Dietary polyethylene glycol (PEG) is extraordinarily potent in the chemoprevention of experimental colon carcinogenesis. PEG is used to treat constipation in France and in the USA. French laxatives include Forlax® (PEG4000), Movicol®
Barbieux, Jean-Pierre, Bertrand, Philippe, Bougnoux, Philippe, Brondin, Brigitte, Corpet, Denis E., Dorval, Etienne, Jankowski, Jean Marie, Viguier, Jérôme   +7 more
core