Results 81 to 90 of about 424,183 (264)

Request of endocrinology and metabolism journals for data sharing statements in clinical trial reports: a survey

Frontiers in Medicine
BackgroundTo enhance reproducibility and transparency, the International Committee of Medical Journal Editors (ICMJE) required that all trial reports submitted after July 2018 must include a data sharing statement (DSS).
Yingxin Liu, Bo Chen, Jingyi Zhang, Xuerui Bai, Lili Kang, Wenli Li, Guowei Li, Guowei Li, Guowei Li   +8 more
doaj   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Febuxostat Improves Postprandial Glucose Regulation and Insulin Sensitivity in Hyperuricemic Individuals with Prediabetes or Newly Diagnosed Type 2 Diabetes: A Prospective Cohort Study

Drug Design, Development and Therapy
Shuang Liu,1,* Qingsong Liu,2,* Ronger Gu,1 Mian Wu,3 Shuo Meng,1 Le Yan,1 Qi Chen,1 Cuiling Zhu,1 Si Chen,4 Bei Xu,1,* Fengjing Liu,4,* Haibing Chen1,* 1Department of Endocrinology and Metabolism, Shanghai Tenth ...
Liu S, Liu Q, Gu R, Wu M, Meng S, Yan L, Chen Q, Zhu C, Chen S, Xu B, Liu F, Chen H   +11 more
doaj  

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 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  

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 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  

Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston, Sandesh C. S. Nagamani, Bradley S. Miller, Katherine A. Rauen, Richard D. Boyce, Salma Musaad, Pilar L. Magoulas   +6 more
wiley   +1 more source

8-Year Safety and Efficacy of Long-Acting GH Therapy in Pediatric IGHD II with Chiari Malformation Type 1: A Case Report with Review of Literature

Pediatric Health, Medicine and Therapeutics
Yongfang Song,1,2,* Huiping Su,1,* Li Wang,1 Lili Pan,1 Xiu Zhao,1 Zhe Su1 1Department of Endocrinology, Affiliated Shenzhen Children’s Hospital of Shantou University Medical College, Shenzhen, 518038, People’s Republic of China ...
Song Y, Su H, Wang L, Pan L, Zhao X, Su Z   +5 more
doaj  

The effects of hyperbaric oxygen therapy on insulin resistance—an approach to physiology

Frontiers in Medicine
BackgroundDiabetes mellitus (DM) is a severe, chronic and complex metabolic disease that leads to multiple dysfunctions, including micro and macrovascular complications, which are a major cause of morbidity and mortality.
Mafalda Sampaio-Alves, Mafalda Sampaio-Alves, Diogo Alpuim Costa, Diogo Alpuim Costa, Diogo Alpuim Costa, Diogo Alpuim Costa, Diogo Alpuim Costa, Diogo Alpuim Costa, Inês Gomes-Alves, Inês Gomes-Alves, João Sérgio Neves, João Sérgio Neves   +11 more
doaj   +1 more source