Results 151 to 160 of about 302,141 (331)

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

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

Timing of congenital cytomegalovirus diagnosis and missed opportunities

Frontiers in Pediatrics
ObjectiveAlthough congenital cytomegalovirus (cCMV) is the most common congenital infection world-wide, many infected infants are not diagnosed at birth. Anticipating that infants with cCMV who are not tested at birth risk a delayed diagnosis, this study
Mallory R. Baker, Xing Wang, Ann J. Melvin   +2 more
doaj   +1 more source

Maternal Anti-Toxoplasma Treatment during Pregnancy Is Associated with Reduced Sensitivity of Diagnostic Tests for Congenital Infection in the Neonate. [PDF]

J Clin Microbiol, 2021
Guegan H, Stajner T, Bobic B, Press C, Olariu RT, Olson K, Srbljanovic J, Montoya JG, Djurković-Djaković O, Robert-Gangneux F.   +9 more
europepmc   +1 more source

HIGH RATE OF URINARY TRACT INFECTION FOLLOWING CLITORECTOMY IN GIRLS WITH CONGENITAL ADRENAL HYPERPLASIA (CAH) [PDF]

, 1975
R. P. Willig, H. M. Wisseler, N Stahnke, J Wiebel, W Blunck   +4 more
openalex   +1 more source

Expert Strategies: Skull Base Reconstruction—Global Perspectives, Insights, and Algorithms through a Mixed Methods Approach

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Objective There is limited consensus on endoscopic skull base surgery (ESBS) reconstruction principles. This study aims to generate comprehensive themes regarding ESBS reconstruction by pooling the experiences of ESBS experts, with comparison to a literature review of current published evidence.
Edward C. Kuan, Vidit Talati, Jagatkumar A. Patel, Theodore V. Nguyen, Arash Abiri, Jonathan C. Pang, Khodayar Goshtasbi, Lauren Liu, John R. Craig, Peter Papagiannopoulos, Katie M. Phillips, Bobby A. Tajudeen, Nithin D. Adappa, James N. Palmer, Ahmad R. Sedaghat, Eric W. Wang, Vijay Anand, Pete S. Batra, Marvin Bergsneider, Manuel Bernal‐Sprekelsen, Benjamin S. Bleier, Paolo Cappabianca, Ricardo L. Carrau, Roy R. Casiano, Paolo Castelnuovo, Luigi M. Cavallo, Marc A. Cohen, Iacopo Dallan, Jean Anderson Eloy, Ivan H. El‐Sayed, James J. Evans, Juan C. Fernandez‐Miranda, Marco Ferrari, Sebastien Froelich, Paul A. Gardner, Christos Georgalas, Stacey T. Gray, Ehab Y. Hanna, Richard J. Harvey, Sang Duk Hong, Peter H. Hwang, Daniel F. Kelly, Doo‐Sik Kong, Ming‐Ying Lan, John Y. K. Lee, Corinna G. Levine, James K. Liu, Davide Locatelli, Cem Meço, Erin L. McKean, Piero Nicolai, Gurston G. Nyquist, Kazuhiro Omura, Thibault Passeri, Zara M. Patel, Maria Peris Celda, Carlos Pinheiro Neto, Danny M. Prevedello, Mindy R. Rabinowitz, Shaan M. Raza, Pablo F. Recinos, Marc R. Rosen, Zoukaa B. Sargi, Rodney J. Schlosser, Theodore H. Schwartz, Raj Sindwani, Carl H. Snyderman, Aldo C. Stamm, Brian D. Thorp, Mario Turri‐Zanoni, Marilene B. Wang, Wei‐Hsin Wang, Ian J. Witterick, Tae‐Bin Won, Bradford A. Woodworth, Peter‐John Wormald, Gabriel Zada, Shirley Y. Su   +77 more
wiley   +1 more source

Inclusion of the Guinea Pig Cytomegalovirus Pentameric Complex in a Live Virus Vaccine Aids Efficacy against Congenital Infection but Is Not Essential for Improving Maternal and Neonatal Outcomes. [PDF]

Viruses, 2021
Schleiss MR, Fernández-Alarcón C, Hernandez-Alvarado N, Wang JB, Geballe AP, McVoy MA.   +5 more
europepmc   +1 more source

Antibody response to individual rubella virus proteins in congenital and other rubella virus infections [PDF]

, 1985
Shigetaka Katow, Atsushi Sugiura
openalex   +1 more source

Neutrophil‐to‐lymphocyte and monocyte‐to‐lymphocyte ratios as inflammatory markers in the assessment of glycemic status in diabetic patients of Asir region

Animal Models and Experimental Medicine, EarlyView.
Neutrophil‐to‐lymphocyte ratio (NLR) and monocyte‐to‐lymphocyte ratio (MLR) were investigated as potential markers. A total of 3545 subjects were included in the analysis retrospectively. Adult men and women with impaired glucose metabolism were assessed. NLR and MLR may help assess inflammation in individuals with impaired glucose metabolism. Abstract
Ayed A. Dera, Abeer Abdullah Alghamdi, Mesfer Al‐Shahrani, Reem M. Al‐Gahtani, Bashayer Saad Alghamdi, Gaffar Sarwar Zaman, Mohammed Abdul Rasheed, Hassan Al‐Shehri, Lana Al‐qhtani, Syed Parween Ali, Umme Hani, Talha Bin Emran   +11 more
wiley   +1 more source

Immune responses to Rickettsia akari infection in congenitally athymic nude mice [PDF]

, 1980
R H Kenyon, Carl E. Pedersen
openalex   +1 more source