Results 181 to 190 of about 2,652,693 (300)

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +5 more
wiley   +1 more source

Mapping the evolution of 3D printing in cardio-thoracic diseases: a global bibliometric analysis. [PDF]

Int J Surg
Tian J, Dong YX, Wang L, Wu YM, Zhao ZY, Che GW.   +5 more
europepmc   +1 more source

Longitudinal Echocardiographic Surveillance of Aortic Dilation in a Phenotype‐Enriched Turner Syndrome Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Turner syndrome (TS) is associated with thoracic aortopathy and increased risk for aortic dissection, yet the natural history of aortic dilation is not well understood. We performed a retrospective longitudinal study of individuals with TS who participated in the TS Society of the United States Healthy Heart Project between 2003 and 2023 ...
Dylan Doerner, Matthew R. Johnson, Sara Mansoorshahi, Rakesh Kathiresan, Katelyn Abel, Jonathan G. You, Emilio Quezada, Siddharth K. Prakash   +7 more
wiley   +1 more source

An optimized transformer model for efficient detection of thoracic diseases in chest X-rays with multi-scale feature fusion. [PDF]

PLoS One
Yu S, Zhou P.
europepmc   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Non-intubated vs. intubated video-assisted thoracoscopic surgery for the treatment of thoracic diseases: a systematic review and meta-analysis of propensity score-matched cohorts. [PDF]

Front Surg
Luo T, Zhang Y, Xu BW, Zhang CC, Zhang LW, Ran XQ, Fu MY.   +6 more
europepmc   +1 more source

GBD 2023 Diarrhoeal Disease and Enteric Infectious Diseases Collaborators. Global burden of enteric infectious diseases, diarrhoeal diseases, and corresponding aetiologies, 1990–2023: a systematic analysis for the Global Burden of Disease Study 2023. The Lancet Infectious Diseases. 2 June 2026. doi: 10.1016/S1473-3099(26)00194-5

Background Enteric infectious diseases claim more than 1 million lives annually and are among the top ten causes of death in children younger than 5 years.
GBD 2023 Diarrhoeal Disease and Enteric Infectious Diseases Collaborators, Luca Cegolon   +1 more
core  

National Clinical Programme for Rare Diseases Workshop on Clinical Research in Rare Diseases

, 2018
The National Clinical Programme was established in December 2013. It is an initiative of the HSE, in partnership with the Royal College of Physicians. A key objective of the Clinical Programme for Rare Diseases is to improve access for rare diseases ...
National Clinical Programme for Rare Diseases
core  

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

A modified Tseng algorithm approach to restoring thoracic diseases' computerized tomography images. [PDF]

PLoS One
Ozsahin DU, Adamu A, Aliyu MR, Umar H.
europepmc   +1 more source