Results 41 to 50 of about 185,337,215 (295)

Update on clinical screening of maturity-onset diabetes of the young (MODY)

Diabetology & Metabolic Syndrome, 2020
Background Maturity-onset diabetes of the young (MODY) is the most common type of monogenic diabetes, being characterized by beta-cell disfunction, early onset, and autosomal dominant inheritance.
Renata Peixoto-Barbosa, André F. Reis, Fernando M. A. Giuffrida   +2 more
doaj   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Identification and functional analysis of GCK gene mutations in 12 Chinese families with hyperglycemia

Journal of Diabetes Investigation, 2019
Aims/Introduction To investigate the clinical and genetic characteristics of Chinese patients with a phenotype consistent with maturity‐onset diabetes of the young type 2 and explore the pathogenic mechanism of their hyperglycemia.
Zhixin Wang, Chengming Diao, Yijing Liu, Mingmin Li, Jia Zheng, Qian Zhang, Miao Yu, Huabing Zhang, Fan Ping, Ming Li, Xinhua Xiao   +10 more
doaj   +1 more source

Molecular genetic analysis and clinical consideration of two families with GCK gene mutation [PDF]

Jichu yixue yu linchuang, 2020
Objective To explore the molecular genetics and clinical characteristics of two cases of maturity-onset diabetes of the young (MODY) type 2 caused by glucokinase (GCK) gene mutation.
WANG Zhi-xin, ZUO Qing-yao, LI Wei, CHEN Jia, DENG Wei
doaj  

Pathophysiology of diabetes: An overview

Avicenna Journal of Medicine, 2020
Diabetes mellitus is a chronic heterogeneous metabolic disorder with complex pathogenesis. It is characterized by elevated blood glucose levels or hyperglycemia, which results from abnormalities in either insulin secretion or insulin action or both ...
Mujeeb Z Banday, Aga S Sameer, Saniya Nissar   +2 more
doaj   +1 more source

Current Views on Etiology, Diagnosis, Epidemiology and Gene Therapy of Maturity Onset Diabetes in the Young [PDF]

Frontiers in Endocrinology
Natalia G Mokrysheva, Lilya Dzhemileva
exaly   +2 more sources

Primary pancreatic lymphoma in a patient with maturity onset diabetes of the young type 3 [PDF]

, 2012
Primary pancreatic lymphoma (PPL) is an extremely rare disease which occurs in pancreas, accounts for less than 1% of extra-nodal malignant lymphomas and 0,5% of cases of pancreatic masses.
Hohaus, Stefan, Calcagni, Maria Lucia, Pitocco, Dario, Teofili, Luciana, Luigi Pianese, Alberto Larghi, Larghi, Alberto, Stefano Tumini, Larocca, Luigi Maria, D'Alo', Francesco, Valentina Bozzoli, Luciana Teofili, Maria Lucia Calcagni, Dario Pitocco, Rufini, Vittoria, Bozzoli, Valentina, Giuseppina Massini, Vittoria Rufini, Francesco D'Alò, Luigi Maria Larocca, Stefan Hohaus, Massini, Giuseppina, Maria Chiara Tisi   +22 more
core   +1 more source

Neurologic Manifestations of Long COVID Affect Adult Females More Severely Than Males

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To characterize differences in neurologic manifestations of postacute sequelae of SARS‐CoV‐2 infection (Neuro‐PASC) between females and males. Methods Cross‐sectional study of the first consecutive 261 posthospitalization Neuro‐PASC (PNP) and 2068 nonhospitalized Neuro‐PASC (NNP) patients evaluated at the Neuro‐COVID clinic between ...
Hannah Kopinsky, Melissa Lopez, Janet Miller, Millenia Jimenez, Eric M. Liotta, Igor J. Koralnik   +5 more
wiley   +1 more source

Changes in Immune‐Inflammation Status and Prognosis in Pregnancy‐Related Cerebral Venous Thrombosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Distinguishing pathological changes from physiological adaptations in pregnancy‐related cerebral venous thrombosis (CVT) is clinically challenging. This study aimed to characterize coagulation, immune‐inflammation, and dehydration status in these patients and assess their prognostic value.
Xiaoming Zhang, Zilin Xu, Ran Duan, Chunxiao Lu, Da Zhou, Chen Zhou, Ran Meng, Xunming Ji   +7 more
wiley   +1 more source

Case Report: A Novel ABCC8 Variant in a Chinese Pedigree of Maturity-Onset Diabetes of the Young

Frontiers in Endocrinology, 2021
BackgroundWe aimed to analyze a novel ABCC8 variant of a Chinese patient with suspected maturity-onset diabetes of the young (MODY) and to provide evidence for precise diagnosis and appropriate treatment.MethodA Chinese family with suspected MODY was ...
Chaoyan Tang, Liheng Meng, Ping Zhang, Xinghuan Liang, Chaozhi Dang, Hui Liang, Junfeng Wu, Haiyun Lan, Yingfen Qin   +8 more
doaj   +1 more source