Results 121 to 130 of about 578 (190)

Prediction of Long‐Term Prognosis in Patients With Hepatocellular Carcinoma Using the National Clinical Database Risk Calculator

Annals of Gastroenterological Surgery, EarlyView.
This study aimed to determine the value of the National Clinical Database (NCD) risk calculator in predicting surgical outcomes and long‐term prognosis in patients undergoing resection for hepatocellular carcinoma (HCC). We retrospectively analyzed data from 210 patients with HCC who underwent initial hepatic resection, assessing the relationship ...
Mariko Tsukagoshi, Kenichiro Araki, Norio Kubo, Takamichi Igarashi, Shunsuke Kawai, Kei Hagiwara, Kouki Hoshino, Ryo Muranushi, Ken Shirabe   +8 more
wiley   +1 more source

Eltrombopag Added to Standard Immunosuppressive Treatment as Front‐Line Therapy for Severe Aplastic Anemia: Long‐Term Outcomes of the Phase‐3 Randomized Superiority EBMT‐SAAWP RACE Study

American Journal of Hematology, EarlyView.
ABSTRACT The RACE study (NCT02009747) compared horse antithymocyte globulin (hATG) plus cyclosporine A (CsA) ± eltrombopag as initial immunosuppressive treatment (IST) for severe aplastic anemia. Here we report the final 2‐year analysis of this prospective randomized phase III study.
Antonio M. Risitano, Simona Iacobelli, Austin Kulasekararaj, Marleen van Os, Sofie R. Terwel, Joe Tuffnell, Brian Piepenbroek, Morag Griffin, Constantijn J. M. Halkes, Christian Recher, Fiorenza Barraco, Edouard Forcade, Juan Carlos Vallejo, Beatrice Drexler, Jean‐Baptiste Mear, Roochi Trikha, Shreyans Gandhi, Anna Maria Raiola, L. G. M. Daenen, Marco R. de Groot, Etienne Daguindau, Erfan Nur, Wilma Barcellini, Nigel H. Russell, Louis Terriou, Anna Paola Iori, Walter Barberi, Anna Sureda, Isabel Sánchez‐Ortega, Blanca Xicoy, Isidro Jarque, James Cavenagh, Flore Sicre de Fontbrune, Camilla Frieri, Talha Munir, Jennifer M. L. Tjon, Suzanne Tavitian, Aline Praire, Laurence Clement, Florence Rabian, Luana Marano, Anita Hill, Elena Palmisani, Petra Muus, Serena Marotta, Fabiana Cacace, Marica Laurino, Jakob R. Passweg, Gérard Socié, Ghulam J. Mufti, Carlo Dufour, Régis Peffault de Latour, Severe Aplastic Anaemia Working Party of the EBMT   +52 more
wiley   +1 more source

Essential, Yet Precarious, Mistreated, Sick and Medicalized: A Sequential Explanatory Mixed‐Methods Study on Homecare Aides in Spain

American Journal of Industrial Medicine, EarlyView.
ABSTRACT Background Homecare aides (HCAs) are professional non‐family caregivers, who support dependent individuals to live at home with dignity; yet in Spain they remain understudied and vulnerable, often facing precarious working conditions. We aimed to characterize HCAs’ employment, living conditions, health, and exposure to workplace violence and ...
Albert Navarro‐Giné, Pedro Ferrer‐Rosende, Maria Feijoo‐Cid, Sergio Salas‐Nicás, Laura Esteve‐Matalí, Valeria Stuardo‐Ávila, María Isabel Fernández‐Cano   +6 more
wiley   +1 more source

Melatonin Levels in 89 Individuals With Smith Magenis Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT In patients with Smith–Magenis syndrome (SMS), an inverted circadian rhythm of melatonin (MT) contributes to the sleep disturbance. Standard treatment of sleep disturbance with MT often leads to extremely high daytime MT levels, resulting in even more sleep disorders. We therefore retrospectively evaluated the MT data of 89 SMS patients.
Wiebe Braam, Ann C. M. Smith
wiley   +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

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

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +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

Genotype–Phenotype Correlations of Monoallelic PFIC Variants in Pediatric Liver Disease: A Multicenter Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins, Tiziano Pramparo, Chaowapong Jarasvaraparn, Michael J. Wilsey, Voytek Slowik, Lakshmi Kunam, Janis M. Stoll, Ruben E. Quiros‐Tejeira, Simon Lam, Wikrom Karnsakul   +9 more
wiley   +1 more source

COX14 Variants Are Associated With Mitochondrial Complex IV Deficiency Nuclear Type 10 (MC4DN10)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT COX14 encodes a transmembrane protein essential for cytochrome c oxidase (COX) complex assembly. A homozygous missense variant in COX14 was reported in three siblings from a single consanguineous family with severe, fatal infantile mitochondrial complex IV deficiency nuclear type 10 (MC4DN10; MIM# 619053).
Elias K. Awad, Emily Waskow, Hari Tunuguntla, Joseph Spinner, Hanna J. Tadros, Lisa T. Emrick, Daniel G. Calame, Fernando Scaglia   +7 more
wiley   +1 more source