Results 101 to 110 of about 771,651 (310)

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

A nationwide assessment of hepatocellular adenoma resection: Indications and pathological discordance

Hepatology Communications, EarlyView., 2022
Abstract Hepatocellular adenomas (HCAs) are benign liver tumors associated with bleeding or malignant transformation. Data on the indication for surgery are scarce. We analyzed indications and outcome of patients operated for HCAs < 50 mm compared to HCAs ≥ 50 mm. Changes in final postoperative diagnosis were assessed.
Martijn P. D. Haring, Arthur K. E. Elfrink, Christiaan A. J. Oudmaijer, Paul C. M. Andel, Alicia Furumaya, Nenke de Jong, Colin J. J. M. Willems, Thijs Huits, Julie M. L. Sijmons, Eric J. T. Belt, Koop Bosscha, Esther C. J. Consten, Mariëlle M. E. Coolsen, Peter van Duijvendijk, Joris I. Erdmann, Paul Gobardhan, Robbert J. de Haas, Tjarda van Heek, Hwai‐Ding Lam, Wouter K. G. Leclercq, Mike S. L. Liem, Hendrik A. Marsman, Gijs A. Patijn, Türkan Terkivatan, Babs M. Zonderhuis, Izaak Quintus Molenaar, Wouter W. te Riele, Jeroen Hagendoorn, Alexander F. M. Schaapherder, Jan N. M. IJzermans, Carlijn I. Buis, Joost M. Klaase, Koert P. de Jong, Vincent E. de Meijer, the Dutch Benign Liver Tumor Group, R. B. Takkenberg, J. Verheij, O. M. van Delden, J. I. Erdmann, B. V. van Rosmalen, A. Furumaya, G. Kazemier, D. Ramsoekh, J. N. M. IJzermans, R. A. de Man, M. D. Doukas, M. G. Thomeer, A. J. Klompenhouwer, A. F. M. Schaapherder, M. E. Tushuizen, M. J. Coenraad, A. S. L. P. Crobach, M. C. Burgmans, S. Feshtali, M. M. E. Coolsen, M. Kramer, J. C. Beckervordersandforth, I. V. Samarska, C. van der Leij, R. Miclea, J. H. W. de Wilt, P. B. van den Boezem, E. T. T. L. Tjwa, I. Munsterman, S. Vos, S. van Koeverden, V. E. de Meijer, F. J. C. Cuperus, R. J. de Haas, E. W. Duiker, M. P. D. Haring   +70 more
wiley   +1 more source

Xietu Hemu Prescription Improves Metabolic Dysfunction-Associated Steatotic Liver Disease: A Real-World Cohort Study

Journal of Multidisciplinary Healthcare
Liu-lan Xiang,1,2,&ast; Yu-tian Cao,1,2,&ast; Xiao-xiao Wang,3,&ast; Gao-xiang Wang,1,&ast; Yu-juan Zhang,4 Rui-han Li,1,2 Fang Qi,5 Jia-xuan Huai,1,2 Jing Sun,1,2 Xiao-jin He,3 Xi-qiao Zhou1 1Department of Endocrinology, Affiliated ...
Xiang LL, Cao YT, Wang XX, Wang GX, Zhang YJ, Li RH, Qi F, Huai JX, Sun J, He XJ, Zhou XQ   +10 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

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,&ast; Qingsong Liu,2,&ast; Ronger Gu,1 Mian Wu,3 Shuo Meng,1 Le Yan,1 Qi Chen,1 Cuiling Zhu,1 Si Chen,4 Bei Xu,1,&ast; Fengjing Liu,4,&ast; Haibing Chen1,&ast; 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  

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

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

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

Journal of Inflammation Research
Shanshan Tang,1,&ast; Yuting Sun,2,&ast; Wenjie Sun,3,4,&ast; 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  

STS-3 medical report [PDF]

The medical operations report for STS-3, which includes a review of the health of the crew before, during, and immediately after the third Shuttle orbital flight is presented.
Johnson, P. C., Jr., Mason, J. A., Pool, S. L.   +2 more
core   +1 more source

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