Results 211 to 220 of about 16,191,636 (293)

High‐Altitude Hypoxemia in Adults With Sickle Cell Disease (SCD)

American Journal of Hematology, EarlyView.
Mofiyin A. Obadina, Sherri Morris, Tara Alin, Barbara LeVarge, Jane A. Little   +4 more
wiley   +1 more source

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +1 more source

Diagnostic Odyssey of Atypical Long‐Chain 3‐Hydroxyacyl‐CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta, Lynette C. Rives, T. Andrew Burrow, Thomas A. Cassini, Rory J. Tinker, Amy K. Robertson, Kimberly M. Ezell, Rizwan Hamid, Joy D. Cogan, John A. Phillips III   +9 more
wiley   +1 more source

Psychiatric and Cognitive Features in Italian Women With the FMR1 Premutation: A Comprehensive Assessment Using SCID‐5 and Standardized Cognitive Measures

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Women with the FMR1 premutation (PM) are at increased risk for fragile X‐associated conditions (FXPAC), including cognitive and psychiatric features collectively termed fragile X‐associated neuropsychiatric disorders (FXAND). This study is the first to systematically investigate cognitive and psychiatric features in Italian female premutation ...
Federica Alice Maria Montanaro, Randi J. Hagerman, Giuseppina Spano, Flora Tassone, Giancarlo Logroscino, Andrea Bosco   +5 more
wiley   +1 more source

Genetic Risk and High Burden of Depression and Suicide in the Maya‐Mestizo Population of Yucatán, México

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Major depression and suicide are critical public health concerns, particularly in underrepresented populations with unique genetic and sociocultural contexts. The Maya‐mestizo population presents the highest suicide rates in the country but remains understudied in psychiatric genetics. This study evaluated the association between three genetic
Marta Menjivar, Erandi Bravo, Margarita Rivera‐Balancan, Barbara Itzel Pena Espinoza   +3 more
wiley   +1 more source

A Global Prospective Harmonization Framework for Suicidality, Anhedonia, and Obsessive‐Compulsive Symptoms in Psychiatric Genetic Studies: A Cross‐Continental Study Within the Ancestral Population Network

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT This study aims to prospectively collect harmonized, quantitative, and dimensional psychiatric phenotypes (suicidality, anhedonia, and obsessive‐compulsive symptoms) and information on discrimination, stigma, and unfair treatment in up to 27,500 individuals across diverse ancestries and clinical populations for genetic analysis within the NIMH
Ana M. Diaz‐Zuluaga, Jacey L. Anderberg, Ana M. Ramirez‐Diaz, Andrea Horvath Marques, Catherine E. Rast, Daniel Bustamante, Deborah Jonker, Johanna Valencia‐Echeverry, Joseph Kyebuzibwa, Josselyn S. Muñoz, Kristien van der Walt, Mauricio Castaño Ramirez, Olivia Wootton, Renee M. Frederick, Rocky E. Stroud II, Ruben Gur, Sang Jin Rhee, Shaili C. Jha, Stella Gichuru, Susan Service, Victor I. Reus, Akena Dickens, Carlos Lopez‐Jaramillo, Carrie E. Bearden, Dan J. Stein, Ezra S. Susser, James J. Crowley, Jonathan Flint, Kenneth S. Kendler, Lukoye Atwoli, Michele T. Pato, Nelson B. Freimer, Roel A. Ophoff, Yong Min Ahn, Loes Olde Loohuis, Eric A. Storch, Bizu Gelaye   +36 more
wiley   +1 more source

Confessions of a Poverty Researcher: My Journey Through the Foothills of Scholarship

Australian Journal of Social Issues, EarlyView.
ABSTRACT This paper describes the key events, experiences and ideas that influenced the author's career as a poverty researcher. He describes how his early disillusion with economics was replaced by a spark of interest in social issues and how his migration from the UK to Australia in the mid‐1970s provided the impetus to begin what became a lifetime ...
Peter Saunders
wiley   +1 more source

Effect of Budesonide Nasal Irrigation in Patients With Chronic Rhinosinusitis With Nasal Polyps Without Prior Sinus Surgery: A Randomized, Double‐Blind, Placebo‐Controlled Study

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background The indication for nasal irrigation with corticosteroids after sinus surgery in patients with Chronic Rhinosinusitis with Nasal Polyps (CRSwNP) is well established, as surgery facilitates distribution throughout the sinonasal cavity.
Juliana Sant'Ana, Isabela Pontes, Caio Floriano, Renato Rios, Marlos Cortez, Marcel Miyake   +5 more
wiley   +1 more source

Altered Nasal Microbiota in Sinonasal Tumors: A Comparative Analysis of Malignant and Benign Sinonasal Tumors

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Although shifts in nasal microbiota have been well‐documented in inflammatory upper airway conditions, microbiota tumor‐associated alterations remain uncharacterized. This study is the first to compare sinonasal microbiota profiles of patients with malignant tumors (MT), benign tumors (BT), and controls, offering insights into tumor‐
Evan A. Patel, Phillip A. Engen, Glen D. Souza, Sarah Khalife, Donyea Moore, Lauren Kret, Pedro Escobedo, Stefan J. Green, Ankur Naqib, Peter Filip, Peter Papagiannopoulos, Bobby A. Tajudeen, Mahboobeh Mahdavinia, Pete S. Batra   +13 more
wiley   +1 more source

Effect of Laser Posterior Nasal Neurolysis for the Treatment of Chronic Rhinitis: A Randomized Controlled Trial

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background To determine the safety and efficacy of laser ablation of the posterior nasal nerve (PNN) for the treatment of chronic rhinitis. Methods This study was a single‐center, prospective, single‐blinded, randomized sham‐controlled trial. Patients with a 24‐h reflective Total Nasal Symptom Score (rTNSS) ≧ 5, rhinorrhea ≧ 2, and congestion ≧
Jyun‐Yi Liao, En‐Ying Wang, Ying‐Shuo Hsu, Ming‐Shao Tsai, Cheng‐Jung Wu, Chia‐Hao Chang, Yi‐Li Hwang, Han‐Lo Teng, Jun‐Wei Hsieh, Chien‐Yu Huang   +9 more
wiley   +1 more source