Results 231 to 240 of about 163,250 (350)

Esophageal Investigations in Connective Tissue Disease

, 2001
Tao Ling, Brian Johnston
openalex   +1 more source

Therapeutic approach to "downhill" esophageal varices bleeding due to superior vena cava syndrome in Behcet's disease: a case report [PDF]

, 2006
Hamid Tavakkoli, Mehrnaz Asadi, Mahshid Haghighi, Abbas Ali Esmaeili   +3 more
openalex   +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

Advancement of the relationship between esophageal microorganisms and esophageal diseases

Gastroenterology & Endoscopy
Research on esophageal microbiota is now still a relatively new field though with certain message has been known. Previously, the esophagus was considered devoid of a significant bacterial population. Any bacteria present were considered to be transient,
Guodong Wang
doaj  

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

Unexpected esophageal diseases appeared in thyroid resections. [PDF]

World J Surg Oncol, 2015
Ye-huan L, Shi-xu L, Yi-li Z, Ou-chen W, Xiao-hua Z.   +4 more
europepmc   +1 more source

Radionuclide imaging for the assessment of esophageal motility disorders in mixed connective tissue disease patients: relation to pulmonary impairment [PDF]

, 2006
M. T. C. Caleiro, Liana Valente Lage, Tomás Navarro-Rodríguez, Adriano Bresser, Pietro Costa, Natalino H. Yoshinari   +5 more
openalex   +1 more source

The Role of SLC39A8.p.(Ala391Thr) in Schizophrenia Symptom Severity and Cognitive Ability: Cross‐Sectional Studies of Schizophrenia and the General UK Population

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT The missense SNP NC_000004.12:g.102267552C>T (also known as SLC39A8.p.(Ala391Thr), rs13107325) in SLC39A8 encodes a zinc transporter. This SNP has been linked to schizophrenia and is the likely causal variant for one of the genome‐wide association loci associated with the disorder. Using regression analyses, we tested whether the schizophrenia‐
Sophie E. Smart, Sophie E. Legge, Eilidh Fenner, Antonio F. Pardiñas, Grace Woolway, Amy J. Lynham, Valentina Escott‐Price, Jeremy Hall, Lawrence Wilkinson, Peter Holmans, Michael C. O'Donovan, Michael J. Owen, James T.R. Walters   +12 more
wiley   +1 more source

Management of Cardiovascular Health Issues in Turner Syndrome: Expert Insights and Expanded Recommendations From the 2024 Guideline Development Team

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner syndrome (TS) is frequently complicated by congenital heart disease (CHD). While left‐sided lesions such as bicuspid aortic valve (BAV) and coarctation of the aorta are the most common structural heart lesions in TS, other anomalies, such as aortic arch malformations, hypoplastic left heart syndrome (HLHS), persistent left superior vena
Katya de Groote, Sheetal R. Patel, Kristian Havmand Mortensen, Isabel Witvrouwen, Anthonie Duijnhouwer, Nicole M. Brown, Jasmine Grewal, Kathryn C. Chatfield, Aaron T. Dorfman, Siddharth K. Prakash   +9 more
wiley   +1 more source

Pathophysiology of ascites formation in cirrhosis of the liver [PDF]

, 1991
Gerbes, Alexander L.
core   +1 more source