Results 131 to 140 of about 1,827,911 (290)

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 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

Health‐related quality of life following total minimally invasive, hybrid minimally invasive or open oesophagectomy: a population‐based cohort study

BJS (British Journal of Surgery), EarlyView., 2020
All patients operated for oesophageal cancer in Sweden from 2013 to April 2018 were identified, and 246 patients were recruited to this population‐based nationwide Swedish study. The results show that longitudinal health‐related quality of life after minimally invasive oesophagectomy was similar to that of the open surgical approach.
F. Klevebro, J. H. Kauppila, S. Markar, A. Johar, P. Lagergren   +4 more
wiley   +1 more source

Factors associated with severe pneumonia among children <5 years, Kasese District, Uganda: a case-control study, January–April 2023

Pneumonia
Background Pneumonia is one of the leading causes of infant mortality globally, particularly in sub-Saharan Africa. In Uganda, pneumonia was the fourth leading cause of death in children 
Mercy Wendy Wanyana, Richard Migisha, Patrick King, Abraham Kibaba Muhesi, Benon Kwesiga, Daniel Kadobera, Lilian Bulage, Alex Riolexus Ario   +7 more
doaj   +1 more source

Immune Modulatory Therapy for Severe Dengue Hemorrhagic Fever in a Patient With Mitochondrial Complex I Deficiency: A Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Dengue virus (DENV) poses a serious global health challenge, particularly in cases of dengue hemorrhagic fever (DHF). Patients with preexisting mitochondrial disorders may be at increased risk for complications due to the specific impact of DENV on mitochondrial‐dependent cellular processes and immune function.
Audra N. Iness, Ameya S. Walimbe, Emily R. Strouphauer, Michio Hirano, Alejandro D. Iglesias, Valentina Emmanuele, Caitlin C. Griffin, Sheldon L. Kaplan, William A. Gomes, Karen K. Moeller, Stephen F. Kralik, Fernando Scaglia   +11 more
wiley   +1 more source

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source

Regional and Compartmental Changes Drive Progressive Patterns of Striatal Degeneration in X‐Linked Dystonia Parkinsonism

Annals of Neurology, EarlyView.
Objective Initially described in 1976, X‐linked dystonia parkinsonism (XDP) is a neurodegenerative disease that can be characterized by the presentation of dystonia and parkinsonism symptoms. Although this disease bears some resemblance to other neurodegenerative diseases in terms of symptomatology, the pathological signature of XDP is still unclear ...
Adelie Y.S. Tan, Nakhon. S.S.S. Thai, Christine J. Arasaratnam, Seung A. Han, Ellen B. Penney, Geraldine Acuña‐Sunshine, Cid Czarina E. Diesta, Mark C. Ang, Edwin Muñoz, Cara Fernandez‐Cerado, Victor Cleofas, G. Paul Legarda, Salvie Velasco, Michelle A. Sy, Clinton P. Turner, Mike Dragunow, Maurice A. Curtis, Ann. M. Graybiel, Richard L.M. Faull, Malvindar K. Singh‐Bains   +19 more
wiley   +1 more source

Severe aspiration pneumonia in the elderly

Journal of Intensive Medicine
The global population is aging at an unprecedented rate, resulting in a growing and vulnerable elderly population in need of efficient comprehensive healthcare services that include long-term care and skilled nursing facilities. In this context, severe aspiration pneumonia, a condition that carries substantial morbidity, mortality, and financial burden,
Sebastian Ocrospoma, Marcos I. Restrepo
openaire   +3 more sources

Severe exacerbation and pneumonia in COPD patients treated with fixed combinations of inhaled corticosteroid and long-acting beta2 agonist

, 2017
Hsi-Hsing Yang,1,2 Chih-Cheng Lai,3 Ya-Hui Wang,4 Wei-Chih Yang,5 Cheng-Yi Wang,4,* Hao-Chien Wang,6,* Likwang Chen,5 Chong-Jen Yu6 On behalf of Taiwan Clinical Trial Consortium for Respiratory Diseases (TCORE) 1Department of Intensive Care Medicine ...
Yu CJ, Yang HH, Wang CY, Yang WC, Chen L, Wang HC, Lai CC, Wang YH   +7 more
core  

Severe Human Parainfluenza Virus Community- and Healthcare-Acquired Pneumonia in Adults at Tertiary Hospital, Seoul, South Korea, 2010–2019

Emerging Infectious Diseases
The characteristics of severe human parainfluenza virus (HPIV)–associated pneumonia in adults have not been well evaluated. We investigated epidemiologic and clinical characteristics of 143 patients with severe HPIV-associated pneumonia during 2010–2019.
Joung Ha Park, Sang-Bum Hong, Jin Won Huh, Jiwon Jung, Min Jae Kim, Yong Pil Chong, Heungsup Sung, Kyung Hyun Do, Sung-Han Kim, Sang-Oh Lee, Yang Soo Kim, Chae-Man Lim, Younsuck Koh, Sang-Ho Choi   +13 more
doaj   +1 more source