Results 241 to 250 of about 102,568 (340)
The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT
Glycogen storage disorders are a group of genetic disorders affecting glucose homeostasis in the body. Muscular glycogen stores are essential for liberating glucose for energy supply during bursts of activity and sustained muscle work. Muscle glycogen storage disease 0 (GSD0B) is associated with biallelic variants in GYS1 causing muscular ...Sarah Donoghue, Smitha Kumble, Pontus Wasling, Lars Alberg, Pia Linton‐Dahlöf, Yilmaz Yildiz, İlker Ertuğrul, Terry Derks, Dwight Koeberl, Emmeline Lagrange, Sabrina Vergnaud, Lidia Pezzani, Maria Iascone, Zornitza Stark, Adam M. Bournazos, Sandra T. Cooper, Gittan Kollberg +16 morewiley +1 more sourceGenotype–Phenotype Correlation in TTC7A‐Associated Gastrointestinal Defects and Immunodeficiency Syndrome 1
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT
Gastrointestinal defects and immunodeficiency syndrome 1 (GIDID1) is a rare autosomal recessive disorder caused by biallelic variants in TTC7A. GIDID1 is characterized by a broad clinical spectrum ranging from very early‐onset inflammatory bowel disease (VEOIBD) to multiple intestinal atresia (MIA) with or without immunological manifestations. Julia Imhoff, Hans Christian Schmidt, Matthias Hans Belau, Johanna Hagens, Mario Lange, Daniel Tegtmeyer, Konrad Reinshagen, Frederike Leonie Harms, Christian Tomuschat +8 morewiley +1 more sourceSuccessful Radiofrequency Catheter Ablation From the Supravalvular Region of the Aortic Valve in a Patient With Outflow Tract Ventricular Tachycardia
, 2000 Hitoshi Hachiya, Kazutaka Aonuma, Yasuteru Yamauchi, Jung-cha Oh, Tomoo Harada, Hiroshi Kano, Isshi Kobayashi, Masayoshi Korenaga, Masayuki Igawa, Akihiko Nogami, Yoshito Iesaka, Michiaki Hiroe, Fumiaki Marumo +12 moreopenalex +2 more sourcesExpert 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 sourceRapid severe hypertension and organ damage in two‐kidney two‐clip rats produced by different sizes of clips
Animal Models and Experimental Medicine, EarlyView.Blood pressure increases immediately when the 2K2C rats (made with 0.3, 0.25, and 0.2 mm U‐shaped clips) regain consciousness from anesthesia. 100% of the rats develop hypertension on the day of 2K2C surgery. Blood pressure continues to rise, resulting in severe hypertension and organ damage to the brain, heart, aorta, and kidneys at 1, 2, 4, and 6 ...Jia‐Sheng Tian, Qi‐Sheng Ling, Yu‐Chen Wei, Dao‐Xin Wang, Chao‐Yu Miao +4 morewiley +1 more source