Results 231 to 240 of about 968,998 (317)

Craniofacial Health Care in Southeast Asia: The Unfinished Agenda of Universal Health Coverage. [PDF]

Int Dent J
Nalabothu P, Marya A, Allareddy V.
europepmc   +1 more source

Health‐Related Quality of Life, Everyday Executive Functioning, and Eating Behavior in Adults With Bardet–Biedl Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Bardet–Biedl syndrome (BBS) is a rare genetic condition with a broad phenotypic spectrum. Knowledge about quality of life, executive functioning, and eating behavior in adults with BBS remains limited. This study aimed to assess health‐related quality of life (HRQoL), everyday executive functioning, and eating behavior in adults with BBS and ...
Cecilie Fremstad Rustad, Charlotte von der Lippe, Hilde Nordgarden, Jeanette Ullmann Miller, Mina Susanne Weedon‐Fekjær, Ragnheidur Bragadottir, Solrun Sigurdardottir   +6 more
wiley   +1 more source

Multidisciplinary Recommendations for the Use of Chest CT and Bronchial Biopsy in Severe Asthma: An Expert Consensus Based on Real-World Experience. [PDF]

J Asthma Allergy
Garcia-Rivero JL, Peña E, González-Piñeiro A, Mosteiro Añón M, Cosio BG, AGHORA Group.   +5 more
europepmc   +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

Control multidisciplinario de la infección nosocomial en un hospital de nivel terciario Multidisciplinary control of nosocomial infection in tertiary level hospital

, 2011
Fidel Espinosa Rivera, Marcia Hart Cásares, María del Carmen Halley Posada, René Zamora Marín   +3 more
openalex   +1 more source

Multidisciplinary management of a patient with acute oesophageal necrosis and severe neurological symptoms with full recovery

Katrīna Terehova, Poļina Zaļizko, Krista Lazdovska, Raimonds Skumbiņš, Aldis Puķītis   +4 more
openalex   +2 more sources

Reverse Total Shoulder Arthroplasty for a Rare Pathological Fracture of the Proximal Humerus Caused by Marginal Zone Lymphoma: A Case Report. [PDF]

Clin Case Rep
Shuang F, Song H, Hu J, Fang S, Guan S, Pu G, Xie W, Jiang G, Zhang L, Wu J, Yang T.   +10 more
europepmc   +1 more source

Distinct Neuropsychiatric Profiles Associated With 17p11.2 Deletions and RAI1 Variants in Smith–Magenis Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith–Magenis syndrome (SMS) results from either a recurrent 17p11.2 deletion or pathogenic variants in the retinoic acid induced 1 gene (RAI1). While neurodevelopmental impairment and behavioral dysregulation are well recognized, systematic genotype‐stratified analyses across psychiatric domains remain limited.
Albin Blanc, Christophe Nemos, Céline Bonnet, Mathilde Renaud, Sandra Chapuis, Pauline Boiroux, Marie‐Noëlle Babinet, Caroline Demily   +7 more
wiley   +1 more source

Severe ADEM‐Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim, Anat Abramovich, Sara Via‐Dorembus, Gali Heimer, Bruria Ben‐Zeev, Etai Adam, Assaf A. Barg, Jonathan Roth, Basheer Sheick‐Yousif, Rony Beeri Berkowiz, Michal Feldon, Haim Bassan, Moran Hausman‐Kedem   +12 more
wiley   +1 more source

Incidental Discovery of an 8.2-cm Pulmonary Artery Aneurysm During Routine Ablation Evaluation. [PDF]

JACC Case Rep
Gakhar SB, Kumar DA, Codolosa JN, Thompson K.   +3 more
europepmc   +1 more source