Results 271 to 280 of about 378,407 (392)

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

Foreign Body Ingestion in Children: A 16-year Experience. [PDF]

Pediatr Gastroenterol Hepatol Nutr
Di Siena A, Melli P, Rodofile F, Rodaro C, Marino M, Castriotta L, Beorchia Y, Pedduzza A, Di Giorgio A, Cogo P.   +9 more
europepmc   +1 more source

Genomic regions associated with susceptibility to Barrett\u27s esophagus and esophageal adenocarcinoma in African Americans: The cross BETRNet admixture study [PDF]

, 2017
et al.,, Nalbantoglu, Ilke, Wang, Jean S
core   +1 more source

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source

Esophageal foreign bodies: a retrospective analysis of 275 cases. [PDF]

J Thorac Dis
Liu B, Kuang S, Cao M, Li X.
europepmc   +1 more source

Early Enzyme Replacement Therapy Does Not Prevent the Protein Losing Enteropathy Syndrome in Neurovisceral Gaucher Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gaucher disease (GD) is a rare lysosomal storage disorder characterized by multisystemic involvement. With the advent of enzyme replacement therapy (ERT), patient survival has improved, revealing new long‐term complications. We report a case of a 4‐year‐old male with severe neurovisceral GD who developed protein‐losing enteropathy (PLE ...
Vincenza Gragnaniello, Mara Cananzi, Annachiara Cavaliere, Christian Loro, Chiara Cazzorla, Daniela Gueraldi, Andrea Puma, Alberto B. Burlina   +7 more
wiley   +1 more source

Laparoscopic Anatomy of the Coelomic Cavity Organs in Female Red-Eared Slider (<i>Trachemys scripta Elegans</i>). [PDF]

Vet Med Int
Pedram S, Zehtabvar O, Rostami A, Akbarein H, Zand S, Rezvani Y, Sari MM, Mollaei Z.   +7 more
europepmc   +1 more source

Epidemiology of Barrett's Esophagus and Esophageal Adenocarcinoma.

Gastroenterology Clinics of North America, 2015
T. Runge, J. Abrams, N. Shaheen
semanticscholar   +1 more source

Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, and riboflavin (Rf) status evaluation excluded a deficiency in Rf transporters as a cause of hearing loss ...
Piero Leone, Alessia Nisco, Luciana de Gennaro, Maria Tolomeo, Elisa Lorefice, Giuseppe Petrosillo, Silvia Russo, Donatella De Giovanni, Claudia Rita Catacchio, Francesca Romana Lepri, Mario Ventura, Simonetta Simonetti, Albina Tummolo, Maria Barile   +13 more
wiley   +1 more source

Long-term outcomes after Ivor-Lewis versus McKeown esophagectomy with two-field lymphadenectomy for resectable middle or lower thoracic esophageal squamous cell carcinoma. [PDF]

Langenbecks Arch Surg
Zhou S, Zhang Y, Cao J, Xu J, Xu W, Yang G, Lv W, Hu J.   +7 more
europepmc   +1 more source