Results 121 to 130 of about 134,842 (242)

Near-Peer Training: Impact of a Single Session on Students’ OSCE Performance

Advances in Medical Education and Practice
Andre S Alves,1,* Victor Taramarcaz,1,* Bernard Cerutti,1 Stephane Genevay,2 Eduardo Schiffer,3 Noelle Junod Perron1,4 1Unit of Development and Research in Medical Education, Faculty of Medicine, Geneva, Switzerland; 2Department of ...
Alves AS, Taramarcaz V, Cerutti B, Genevay S, Schiffer E, Junod Perron N   +5 more
doaj  

Environmental pollution, apolipoprotein A-1 autoantibodies and cardiovascular risk: evidence from a geospatial cross-sectional study. [PDF]

Atheroscler Plus
Fellay N, Pagano S, Marques-Vidal P, Vollenweider P, Stringhini S, De Ridder D, Vaucher J, Thomas A, Carballo D, Guessous I, Nehme M, Joost S, Vuilleumier N.   +12 more
europepmc   +1 more source

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

Epidemiological and Molecular Surveillance of Multiresistant Citrobacter freundii Complex in a Tertiary Care Hospital: A Retrospective Cohort Study. [PDF]

J Infect Dis
Fonton P, Sierra R, Martischang R, Nguyen A, Cherkaoui A, Andrey DO, Harbarth S.   +6 more
europepmc   +1 more source

Characterization and Analysis of PHEX Variants in Patients With Hypophosphatemia in Argentina

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Confirming the underlying molecular etiology of hereditary hypophosphatemia (HH) to provide recurrence risk counseling is highly important. Our aims were to describe the detected variants and their distribution across Argentina and to contrast them with published data.
Silvia Ávila, Sara Fernández, Maximiliano Zeballos, María Georgina Poggio   +3 more
wiley   +1 more source

Driving factors in pediatric emergency department use: an ecological retrospective study. [PDF]

PLoS One
Mongin D, Spechbach H, Marti J, Ehrler F, Siebert JN.   +4 more
europepmc   +1 more source

Clinical and Molecular Characterization of 46 Patients With Beckwith–Wiedemann Spectrum and Uniparental Disomy of 11p15

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Beckwith–Wiedemann spectrum (BWSp) is an overgrowth disorder characterized by its main clinical features macrosomia, macroglossia, and abdominal wall defects. BWSp is caused by (epi)genetic chromosome 11p15 alterations with approximately 20%–27% of patients exhibiting mosaic paternal uniparental disomy of chromosome 11p15 (pUPD11p15).
Saskia M. Maas, Peter Lauffer, Niels Vos, Paola Lombardi, Marcel M. A. M. Mannens, Youp Zegers, Laura J. C. M. van Zutven, Aeilko H. S. Zwinderman, Mieke M. van Haelst, Jet Bliek   +9 more
wiley   +1 more source

Reply to: Considerations of emerging diaphragmatic ultrasound techniques for clinical practice: potential pitfalls and future challenges. [PDF]

Eur Respir Rev
Neto Silva I, Bendjelid K.
europepmc   +1 more source

The International Consortium for Arthrogryposis: A Collaborative Framework for Early Detection, Care, Research, and Education

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is a group of rare congenital conditions, characterized by multiple joint contractures but may involve any body system including central nervous system. AMC is etiologically heterogeneous, with over 400 genetic and many non‐genetic causes implicated in its prenatal development.
Shahrzad Nematollahi, Noa Bouzaglo, Victoria Castillo Sanchez, Johanna I. P. de‐Vries, Klaus Dieterich, Alicja Fafara, Isabel Filges, Philip Giampietro, Göknur Haliloğlu, Judith Hall, Coleman Hilton, Remco Jansen, Valentina Maestri, Carolina Navalon, Daniel Natera de Benito, Tony Pan, Ani Samargian, Bonita Sawatzky, Harold van Bosse, Paul A. Trainor, Noémi Dahan‐Oliel   +20 more
wiley   +1 more source

Determinants of antipsychotic prescription in women detainees admitted to an acute forensic psychiatric unit. [PDF]

Front Psychiatry
D'Orta I, Nobis A, Weber K, Herrmann FR, Giannakopoulos P.   +4 more
europepmc   +1 more source