Results 21 to 30 of about 14,863 (260)

Anomalous Retro-Psoas Iliac Artery: A Case Report

대한영상의학회지, 2020
The anomalous retro-psoas iliac artery is an extremely rare congenital iliolumbar vascular anomaly. A 51-year-old woman presented to our emergency department with worsening right lower extremity pain and weakness for 3 months.
Beum Jin Kim, Youngjun Kim
doaj   +1 more source

A new classification of congenital abnormalities of UPVS: sonographic appearances, screening strategy and clinical significance

Insights into Imaging, 2021
The umbilical–portal venous system (UPVS) plays an important role in embryonic development, as well as a significant blood circulation system to ensure the normal blood supply of fetal heart and brain and other vital organs.
Yue Qin, Huaxuan Wen, Meiling Liang, Dandan Luo, Qing Zeng, Yimei Liao, Mengyu Zhang, Yan Ding, Xin Wen, Ying Tan, Ying Yuan, Shengli Li   +11 more
doaj   +1 more source

Birth defects associated with paternal firefighting in the National Birth Defects Prevention Study

American Journal of Industrial Medicine, Volume 66, Issue 1, Page 30-40, January 2023., 2023
Abstract Background Few studies have evaluated birth defects among children of firefighters. We investigated associations between birth defects and paternal work as a firefighter compared to work in non‐firefighting and police officer occupations. Methods We analyzed 1997–2011 data from the multi‐site case‐control National Birth Defects Prevention ...
Miriam R. Siegel, Carissa M. Rocheleau, Brittany S. Hollerbach, Amel Omari, Sara A. Jahnke, Lynn M. Almli, Andrew F. Olshan, National Birth Defects Prevention Study   +7 more
wiley   +1 more source

Occipital cortex dysgenesis with white matter changes due to mutations in Laminin a2

The Turkish Journal of Pediatrics, 2017
Laminin α2 related congenital muscular dystrophy is one of the most common congenital muscular dystrophies of childhood with or without clinical evidence of central nervous system involvement.
Uluç Yiş, Vishal Dixit, Sedat Işıkay, Mert Karakaya, Figen Baydan, Gülden Diniz, İpek Polat, Semra Hız-Kurul, Sebahattin Çırak   +8 more
doaj   +1 more source

Familial Bainbridge‐Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype

American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 29-36, January 2023., 2023
Abstract De novo truncating and splicing pathogenic variants in the Additional Sex Combs‐Like 3 (ASXL3) gene are known to cause neurodevelopmental delay, intellectual disability, behavioral difficulties, hypotonia, feeding problems and characteristic facial features.
Schaida Schirwani, Emily Woods, David A. Koolen, Charlotte W. Ockeloen, Sally Ann Lynch, Karl Kavanagh, John M. Graham Jr, Katheryn Grand, Tyler Mark Pierson, Jeffrey M. Chung, Meena Balasubramanian   +10 more
wiley   +1 more source

The Embryology Resource Page (Out of Print)

MedEdPORTAL, 2006
This educational website contains a number of valuable resources on the topic of embryology. PowerPoint presentations, online lectures, notes, and links to additional reference websites are provided.
Thomas Marino
doaj   +1 more source

Auditory cortex and beyond: Deficits in congenital amusia [PDF]

Hearing Research, 2023, 437, pp.108855, 2023
Congenital amusia is a neuro-developmental disorder of music perception and production, with the observed deficits contrasting with the sophisticated music processing reported for the general population. Musical deficits within amusia have been hypothesized to arise from altered pitch processing, with impairments in pitch discrimination and, notably ...
arxiv   +1 more source

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

Epidemiology of congenital abnormalities in West Africa: Results of a descriptive study in teaching hospitals in Abidjan: Cote d′Ivoire

African Journal of Paediatric Surgery, 2015
Background: Congenital abnormalities constitute one of the major causes of infant mortality, particularly in developing countries. The aim of this study was to describe the epidemiology of congenital anomalies in Cote d′Ivoire.
Bertin Dibi Kouame, Isabelle Ama N′guetta-Brou, Guy Serge Yapo Kouame, Moufidath Sounkere, Maxime Koffi, Jean Baptiste Yaokreh, Thierry Odehouri-Koudou, Samba Tembely, Gaudens Atafi Dieth, Ossenou Ouattara, Ruffin Dick   +10 more
doaj   +1 more source

Anticipatory banking of samples enables diagnosis of adenylosuccinase deficiency following molecular autopsy in an infant with vacuolating leukoencephalopathy

American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 234-237, January 2023., 2023
Abstract Adenylosuccinase deficiency is a rare inborn error of metabolism. We present a newborn who died at 52 days of age with clinical features suggestive of severe epileptic encephalopathy and leukodystrophy of unknown cause. Post‐mortem examination showed an unusual vacuolar appearance of the brain.
Spatikha Sitaram, Hetalika C. Banka, Grace Vassallo, Julija Pavaine, Adele Fairclough, Ronnie Wright, Lynette Fairbanks, Jörgen Bierau, Lydia Bowden, Bernd Schwahn, Alistair Horman, Siddharth Banka   +11 more
wiley   +1 more source