Results 141 to 150 of about 120,357 (292)

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Esophageal stricture assessment by esophagogram: A pictorial review of differential diagnosis

Clinical and Biomedical Research, 2019
The purpose of this article is to review the most frequent conditions associated with esophageal strictures on esophagogram. The most common causes include caustic ingestion, radiation therapy, malignancy, extrinsic compression, gastroesophageal reflux ...
Marcio Aloisio Bezerra Cavalcanti Rockenbach, Ivan Morzoletto Pedrollo, Antonio Carlos Maciel   +2 more
doaj  

Esophageal diverticula and cancer

, 2011
Esophageal diverticula are rare. the association of cancer and diverticula has been described. Some authors adopt a conservative non-surgical approach in selected patients with diverticula whereas others treat the symptoms by diverticulopexy or myotomy ...
Dubecz, A., M. G. Patti, Herbella, F. A. M. [UNIFESP], A. Dubecz, Patti, M. G., F. A. M. Herbella   +5 more
core   +1 more source

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +1 more source

Esophageal Contractions in Patients with Chronic Progressive External Ophthalmoplegia

, 2011
Background Chronic progressive external ophthalmoplegia is a mitochondrial myopathy that causes muscular or multisystem symptoms and has dysphagia as one manifestation. Aim To evaluate esophageal contractions in patients with chronic progressive external
Paula Macedo Carvalho Issa Okubo, DOMENIS, Danielle Ramos, OKUBO, Paula Macedo Carvalho Issa, Cláudia Sobreira, Danielle Ramos Domenis, SOBREIRA, Claudia, DANTAS, Roberto Oliveira, Roberto Oliveira Dantas   +7 more
core   +1 more source

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

Genetic predisposition to porto‐sinusoidal vascular disorder: A functional genomic‐based, multigenerational family study

Hepatology, EarlyView., 2022
A deleterious variant of FCHSD1 results in mTOR pathway overactivation and may cause porto‐sinusoidal vascular disorder (PSVD). The pedigree of the family demonstrated an autosomal dominant disease with variable expressivity. Whole‐genome sequencing and Sanger sequencing both validated the existence of the FCHSD1 variant and the heterozygosity of c ...
Jingxuan Shan, André Megarbane, Aziz Chouchane, Deepak Karthik, Ramzi Temanni, Atilio Reyes Romero, Huiying Hua, Chun Pan, Xixi Chen, Murugan Subramanian, Chadi Saad, Hamdi Mbarek, Cybel Mehawej, Eliane Chouery, Sirin W. Abuaqel, Alexander Dömling, Sami Remadi, Cesar Yaghi, Pu Li, Lotfi Chouchane   +19 more
wiley   +1 more source

Association between type 1 diabetes mellitus and esophageal varices: a Mendelian randomization study

Introduction Esophageal varices (EV) are dilated submucosal veins in the distal esophagus connecting the portal vein to the systemic circulation. Type 1 diabetes mellitus (T1DM) is a chronic autoimmune disease associated with a variety of cardiovascular ...
Kai Feng, Jiang Yuan, Min Li, Yanhui Wei
core   +1 more source

Are idiopathic and chagasic achalasia two different diseases?

, 2004
Although Chagas' disease esophagopaty and idiopathic (primary) achalasia share several similarities, however, some differences between the two diseases have been noticed. To evaluate if treatment options and their results can be accepted universally, the
Del Grande, J. C., Herbella, FAM, Oliveira, DRCF   +2 more
core   +1 more source

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source