Results 91 to 100 of about 766,585 (300)

Acromegaly: pathogenesis & treatment [PDF]

, 2019
Acromegaly is a multi-system disorder whose etiology is most often traced back to a growth hormone-secreting pituitary adenoma (PA). Growth hormone (GH) secretion promotes insulin-like growth factor 1 (IGF-1) release from peripheral tissues, leading to ...
Tilvawala, Megha
core  

m.10010T>C Mitochondrial Disease: A Case Report With Hypoparathyroidism and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mitochondria are essential intracellular organelles that play a critical role in cellular metabolism, including the regulation of intracellular calcium signaling. Advances in genomic sequencing have facilitated the identification of rare pathogenic mitochondrial DNA (mtDNA) genetic variants in patients with unexplained endocrine disorders.
Jacob Mohr, Anja Lisbeth Frederiksen, Morten Duno, Anne Pernille Hermann, Trine Maxel Juul, Simone Rask Nielsen   +5 more
wiley   +1 more source

Relationship between NAFLD and coronary artery disease: A Mendelian randomization study

Hepatology, EarlyView., 2022
Abstract Background and Aims There is an ongoing debate on whether NAFLD is an active contributor or an innocent bystander in the pathogenesis of coronary artery disease (CAD). The aim of the present study was to assess the causal relationship between NAFLD and CAD.
Zhewen Ren, Pomme I. H. G. Simons, Anke Wesselius, Coen D. A. Stehouwer, Martijn C. G. J. Brouwers   +4 more
wiley   +1 more source

Programmed Cell Death in Diabetic Kidney Disease: Mechanisms and Therapeutic Targeting

Journal of Inflammation Research
Shanshan Tang,1,* Yuting Sun,2,* Wenjie Sun,3,4,* Xiaomin Kang,2 Xuefei Zhao,2 Linlin Jiang,2 Qing Gao,2 Xuedong An,2 Hangyu Ji,2 Fengmei Lian2 1College of Traditional Chinese Medicine, Changchun University of Chinese Medicine ...
Tang S, Sun Y, Sun W, Kang X, Zhao X, Jiang L, Gao Q, An X, Ji H, Lian F   +9 more
doaj  

Dehydroepiandrosterone sulfate (DHEAS) is neuroprotective when administered either before or after injury in a focal cortical cold lesion model [PDF]

, 2006
Dehydroepiandrosterone and its sulfate (DHEAS) are sex hormone precursors that exert marked neurotrophic and/or neuroprotective activity in the central nervous system.
Dobszay B., Gábor, Farkas, Tamás, Juhász-Vedres, Gabriella, Kis, Zsolt, Párducz, Árpád, Rákos, Gabriella, Rózsa, Éva, Toldi, József, Wölfling, János   +8 more
core  

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Apolipoprotein F is reduced in humans with steatosis and controls plasma triglyceride‐rich lipoprotein metabolism

Hepatology, EarlyView., 2022
Hepatic APOF transcript levels correlate inversely with plasma TG and hepatic steatosis in humans. ApoF expression in mice promotes VLDL‐TG production and lipoprotein remnant clearance in mice. Abstract Background NAFLD affects nearly 25% of the global population. Cardiovascular disease (CVD) is the most common cause of death among patients with NAFLD,
Audrey Deprince, Nathalie Hennuyer, Sander Kooijman, Amanda C. M. Pronk, Eric Baugé, Viktor Lienard, An Verrijken, Eveline Dirinck, Luisa Vonghia, Eloïse Woitrain, Niels J. Kloosterhuis, Eléonore Marez, Pauline Jacquemain, Justina C. Wolters, Fanny Lalloyer, Delphine Eberlé, Sandrine Quemener, Emmanuelle Vallez, Anne Tailleux, Mostafa Kouach, Jean‐Francois Goossens, Violeta Raverdy, Bruno Derudas, Jan Albert Kuivenhoven, Mikaël Croyal, Bart van de Sluis, Sven Francque, François Pattou, Patrick C. N. Rensen, Bart Staels, Joel T. Haas   +30 more
wiley   +1 more source

Systematic Review of Oral Carbohydrate Treatment for Non-Severe Hypoglycemia in Type 1 Diabetes: A Comparison of Insulin Management Systems

Diabetes, Metabolic Syndrome and Obesity
Nicole L Prince,1,2 Heather A Lochnan,1– 3 Risa Shorr,4 Annie Garon-Mailer,2 Cathy J Sun1– 3 1Faculty of Medicine, University of Ottawa, Ottawa, ON, K1H 8M5, Canada; 2Division of Endocrinology and Metabolism, Department of Medicine, The Ottawa Hospital ...
Prince NL, Lochnan HA, Shorr R, Garon-Mailer A, Sun CJ   +4 more
doaj  

Sleep and endocrinology [PDF]

Journal of Internal Medicine, 2003
Abstract.Steiger A (Max Planck Institute of Psychiatry, Munich, Germany). Sleep and endocrinology (Minisymposium). J Intern Med 2003; 254: 13–22.A bidirectional interaction between sleep electroencephalogram and endocrine activity is well established in various species including humans.
openaire   +4 more sources

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source