Results 191 to 200 of about 729,297 (395)
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 morewiley +1 more sourceLeft ventricular mass and body size in normotensive children and adults: assessment of allometric relations and impact of overweight.
Journal of the American College of Cardiology, 1992 G. Simone, S. Daniels, S. Daniels, R. B. Devereux, R. Meyer, R. Meyer, M. Roman, O. Divitiis, M. Alderman, M. Alderman +9 moresemanticscholar +1 more sourceManagement 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 morewiley +1 more sourceLeft ventricular mass and subsequent blood pressure changes among middle-aged men in rural and urban Japanese populations.
, 1994 Hiroyasu Iso, Maiko Kiyama, Mitsunori Doi, Noriyuki Nakanishi, Akihiko Kitamura, Yoshiro Naito, S. Sato, M Iida, Masamitsu Konishi, Takashi Shimamoto +9 moreopenalex +1 more sourceExpert 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 morewiley +1 more sourceCerebral Small Vessel Disease in Older Adults With Olfactory Dysfunction
International Forum of Allergy &Rhinology, EarlyView.ABSTRACT Background
Poor vascular health has been associated with age‐related declines in sensory functions, including olfaction. The current study was designed to test the hypothesis that cerebral small vessel disease underlies poor olfactory function due to structural declines in brain regions that support olfaction.Mark A. Eckert, Judy R. Dubno, Zachary M. Soler, Rodney J. Schlosser +3 morewiley +1 more source