Results 61 to 70 of about 526,418 (247)

Ocular and brain imaging findings in Peters’ anomaly: A case report and literature review

Radiology Case Reports, 2020
Peters’ anomaly is a rare congenital eye condition characterized by anterior segment dysgenesis and commonly presents as unilateral or bilateral corneal opacity in the early neonatal period.
Amjad Samara, MD, Rami W. Eldaya, MD, MBA   +1 more
doaj   +1 more source

Longitudinal Echocardiographic Surveillance of Aortic Dilation in a Phenotype‐Enriched Turner Syndrome Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Turner syndrome (TS) is associated with thoracic aortopathy and increased risk for aortic dissection, yet the natural history of aortic dilation is not well understood. We performed a retrospective longitudinal study of individuals with TS who participated in the TS Society of the United States Healthy Heart Project between 2003 and 2023 ...
Dylan Doerner, Matthew R. Johnson, Sara Mansoorshahi, Rakesh Kathiresan, Katelyn Abel, Jonathan G. You, Emilio Quezada, Siddharth K. Prakash   +7 more
wiley   +1 more source

Incidentally detected bifid cardiac apex in a patient with acute myocardial infarction: A case presentation and brief literature review

Türk Kardiyoloji Derneği Arşivi, 2018
A bifid cardiac apex is a rare congenital cardiac anomaly in humans and is usually associated with other congenital heart diseases. Presently described is a case of an incidentally detected bifid cardiac apex in a patient presenting with inferior ST ...
Ali Hosseinsabet, Alireza Amirzadegan
doaj   +1 more source

L‐Cysteine and N‐Acetylcysteine Supplementation Improves Clinical Outcome in a Patient With COXPD10

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MTO1 is a nuclear gene that encodes a mitochondrial protein essential for modifying mitochondrial transfer RNAs (tRNAs) and stabilizing codon‐anticodon interactions to ensure accurate and efficient mitochondrial protein synthesis and oxidative phosphorylation.
Nishitha R. Pillai, Sara A. Elsbecker, Grace Bronken McCarthy, Kaitlin Weisshappel, Peter Karachunski, Fernando Scaglia   +5 more
wiley   +1 more source

Dual Aberrant Splicing Caused by an Apparently Missense CHD7 Variant, c.5273A>G (p.Asp1758Gly), in CHARGE Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome is a rare congenital disorder primarily attributed to heterozygous pathogenic variants of the CHD7 gene. Most pathogenic CHD7 variants are loss‐of‐function (LoF) variants, whereas the interpretation of missense variants remains challenging in the absence of functional evidence for their pathogenicity.
Takashi Okuno, Tatsuto Shimizu, Aiko Igarashi, Kazumi Ikeda, Masamichi Ikawa, Sumihito Togi, Hiroki Ura, Yo Niida, Katsutsugu Umeda   +8 more
wiley   +1 more source

First Report of Uniparental Isodisomy of Chromosome 15 Revealing Angelman Syndrome and Microphthalmia Associated With a Novel Homozygous ALDH1A3 Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Paternal isodisomy of chromosome 15 (iUPD15) is a recognized cause of Angelman syndrome (AS), accounting for approximately 2%–5% of cases. Additionally, another recognized consequence of iUPD is the unmasking of autosomal recessive disorders. However, reports of recessive disorders resulting from iUPD15 remain scarce in the literature.
Gabriela Roldão Correia‐Costa, Joana Rosa Marques Prota, Antonia Paula Marques‐de‐Faria, Carlos Eduardo Steiner, Társis Paiva Vieira   +4 more
wiley   +1 more source

Navigating Infant Death from Life-Limiting Congenital Anomaly: A Classic Grounded Theory Study

, 2018
The purpose of this classic grounded theory study was to explore how parents experience the expected death of an infant from a life-limiting congenital anomaly. These anomalies are the leading cause of death of infants in the United States.
Susan Bush Welch, PhD, RN
core  

Differential Diagnosis of Mucopolysaccharidoses Types I, II, III, IVA, and VI Through Analysis of Leukocytic Inclusions

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mucopolysaccharidoses (MPS) are lysosomal storage disorders characterized by the accumulation of glycosaminoglycans (GAGs), which can lead to cytoplasmic alterations in leukocytes. The objective of this study was to characterize leukocyte inclusions in patients with different types of MPS and assess their diagnostic relevance.
Márcio A. W. Melo, Marcelo S. Kertenetzky, Cristina M. Silveira, Maíra M. Ribeiro, Paula F. Medeiros, Gabriela S. Arcanjo   +5 more
wiley   +1 more source

Weaknesses in the Reporting of Cross-sectional Studies in Accordance with the STROBE Report (The Case of Congenital Anomaly among Infants in Iran): A Review Article

Iranian Journal of Public Health, 2018
Background: The inadequate reporting of cross-sectional studies, as in the case of the prevalence of Congenital Anomaly, could cause challenges in the synthesis of new evidence and make possible mistakes in the creation of public policies. This study was
Morvarid IRANI, Maryam HASSANZADEH BASHTIAN, Talat KHADIVZADEH, Hosein EBRAHIMIPOUR, Seyyed Mohsen ASGHARI NEKAH   +4 more
doaj  

A Case of Double Gallbladder with Adenocarcinoma Arising from the Left Hepatic Duct: A Case Report and Review of the Literature

Gastroenterology Research and Practice, 2010
Double gallbladder is a rare congenital biliary anomaly, but an accessory gallbladder arising from the left hepatic duct is a more remarkably rare congenital anomaly.
Masahiro Kawanishi, Yukio Kuwada, Yutaka Mitsuoka, Shogo Sasao, Teruo Mouri, Eiichi Takesaki, Tadateru Takahashi, Kazuhiro Toyota, Tamaki Nakatani   +8 more
doaj   +1 more source