Results 61 to 70 of about 631,764 (332)

Comprehensive genetic screening for vascular Ehlers–Danlos syndrome through an amplification‐based next‐generation sequencing system

American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 37-51, January 2023., 2023
Abstract Vascular Ehlers–Danlos syndrome (vEDS) is a hereditary connective tissue disorder (HCTD) characterized by arterial dissection/aneurysm/rupture, sigmoid colon rupture, or uterine rupture. Diagnosis is confirmed by detecting heterozygous variants in COL3A1.
Tomomi Yamaguchi, Shujiro Hayashi, Daisuke Hayashi, Takeshi Matsuyama, Norimichi Koitabashi, Kenichi Ogiwara, Masaaki Noda, Chiai Nakada, Shinya Fujiki, Akira Furutachi, Yasuhiko Tanabe, Michiko Yamanaka, Aki Ishikawa, Miyako Mizukami, Asako Mizuguchi, Kazumitsu Sugiura, Makoto Sumi, Hirokuni Yamazawa, Atsushi Izawa, Yuko Wada, Tomomi Fujikawa, Yuri Takiguchi, Keiko Wakui, Kyoko Takano, Shin‐Ya Nishio, Tomoki Kosho   +25 more
wiley   +1 more source

α-mannosidosis diagnosis in Brazilian patients with MPS-like symptoms

Orphanet Journal of Rare Diseases
Background α-mannosidosis is an inborn error of metabolism caused by the deficiency of the lysosomal enzyme α-mannosidase, which is encoded by the MAN2B1 gene and inherited in an autosomal recessive manner.
Maryana Marins, Marco Antonio Curiati, Caio Perez Gomes, Renan Paulo Martin, Priscila Nicolicht-Amorim, Joyce Umbelino da Silva Yamamoto, Vânia D’Almeida, Ana Maria Martins, João Bosco Pesquero   +8 more
doaj   +1 more source

Ontology Based Information Extraction for Disease Intelligence [PDF]

International Journal of Research in Computer Science, 2 (6): pp. 7-19, November 2012. doi:10.7815/ijorcs.26.2012.051, 2012
Disease Intelligence (DI) is based on the acquisition and aggregation of fragmented knowledge of diseases at multiple sources all over the world to provide valuable information to doctors, researchers and information seeking community. Some diseases have their own characteristics changed rapidly at different places of the world and are reported on ...
arxiv   +1 more source

Targeting the MDM2‐MDM4 interaction interface reveals an otherwise therapeutically active wild‐type p53 in colorectal cancer

Molecular Oncology, EarlyView.
This study investigates an alternative approach to reactivating the oncosuppressor p53 in cancer. A short peptide targeting the association of the two p53 inhibitors, MDM2 and MDM4, induces an otherwise therapeutically active p53 with unique features that promote cell death and potentially reduce toxicity towards proliferating nontumor cells.
Sonia Valentini, Giada Mele, Marika Attili, Maria Rita Assenza, Fulvio Saccoccia, Francesca Sardina, Cinzia Rinaldo, Roberto Massari, Nicola Tirelli, Alfredo Pontecorvi, Fabiola Moretti   +10 more
wiley   +1 more source

Case of a Male Newborn with Incontinentia Pigmenti Initially Misdiagnosed as a Recurrent Skin Infection [PDF]

Neonatal Medicine, 2020
Incontinentia pigmenti (IP), also known as Bloch-Sulzberger syndrome, is a rare X-linked dominant disorder that is generally lethal to males and almost always leads to death in utero.
Sang Ho Park, Kyung-Hwa Nam, Yo Han Ho
doaj   +1 more source

Report on advances for pediatricians in 2018: allergy, cardiology, critical care, endocrinology, hereditary metabolic diseases, gastroenterology, infectious diseases, neonatology, nutrition, respiratory tract disorders and surgery. [PDF]

, 2019
This review reported notable advances in pediatrics that have been published in 2018. We have highlighted progresses in allergy, cardiology, critical care, endocrinology, hereditary metabolic diseases, gastroenterology, infectious diseases, neonatology ...
Bernasconi S, Borrelli M, Caffarelli C, Corsello G., Di Pinto R, Gaeta V, Iovane B, Mastrorilli C, Petraroli M, Santamaria F, Santoro A   +10 more
core   +2 more sources

Expectile Neural Networks for Genetic Data Analysis of Complex Diseases [PDF]

arXiv, 2020
The genetic etiologies of common diseases are highly complex and heterogeneous. Classic statistical methods, such as linear regression, have successfully identified numerous genetic variants associated with complex diseases. Nonetheless, for most complex diseases, the identified variants only account for a small proportion of heritability.
arxiv  

Genetic heterogeneity analysis using genetic algorithm and network science [PDF]

arXiv, 2023
Through genome-wide association studies (GWAS), disease susceptible genetic variables can be identified by comparing the genetic data of individuals with and without a specific disease. However, the discovery of these associations poses a significant challenge due to genetic heterogeneity and feature interactions.
arxiv  

Severe infectious diseases of childhood as monogenic inborn errors of immunity

Proceedings of the National Academy of Sciences of the United States of America, 2015
Significance The key problem concerning pediatric infectious diseases, and more generally clinical diseases during primary infection, is their pathogenesis. A plausible and testable human genetic theory of primary infectious diseases has recently emerged,
J. Casanova
semanticscholar   +1 more source

Expert panel on monitoring radiation doses from recurrent medical diagnostic procedures: Sixth Gilbert W. Beebe Webinar

Journal of Applied Clinical Medical Physics, EarlyView.
Abstract Recurrent imaging is an essential tool for patient care but with an attendant dose from radiation exposure. Recurrent imaging has been the subject of increasing scrutiny and debate based largely on the risk from increasing cumulative doses. However, the accountability for and actions with recurrent imaging as a special component in the general
Donald P. Frush, Armin Ansari, James A. Brink, Ourania Kosti, David B. Larson, Martha S. Linet, Mahadevappa Mahesh, Ioannis Sechopoulos, Jenia Vassileva   +8 more
wiley   +1 more source