Results 51 to 60 of about 28,790 (211)

Poland Anomaly and Atretic Cephalocele in the Same Child: Coincidence or Association?

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Poland Anomaly is a rare congenital disorder typically characterized by hypoplasia or agenesis of pectoral muscle with or without ipsilateral limb hypoplasia. The association of central nervous system malformation with Poland Anomaly has been rarely reported and includes craniofacial dysplasia, microcephaly, and Dandy‐Walker malformation ...
Alessandra Greta Grassi, Silvia Pontesilli, Laura Demelas, Francesca Vigliani, Massimo Agosti, Angelo Selicorni   +5 more
wiley   +1 more source

Adult brain abscess associated with patent foramen ovale: a case report

Journal of Medical Case Reports, 2007
Brain abscess results from local or metastatic septic spread to the brain. The primary infectious site is often undetected, more commonly so when it is distant.
Stathopoulos Georgios T, Mandila Christina G, Koukoulitsios Georgios V, Katsarelis Nikodimos G, Pedonomos Michel, Karabinis Andreas   +5 more
doaj   +1 more source

What general practitioners need to know about patent foramen ovale [PDF]

, 2014
A patent foramen ovale (PFO) consists of a hole between the right and left atriums of the heart that did not close the way it should after birth. Twenty five percent of the population have a PFO, but this usually does not cause problems, because the ...
Saliba, Mario
core  

Interaction between proatherosclerotic factors and right-to-left shunt on the risk of cryptogenic stroke: the Italian Project on Stroke in Young Adults. [PDF]

, 2012
Objective: To explore the interaction effects between cardiac interatrial right-to-left shunt (RLS) and proatherosclerotic factors on the risk of brain ischaemia. Design: Multicentre Italian caseecontrol study. Setting: University hospitals. Participants:
A, Adami, Bovi, P, Calabrò, Rs, Casoni, F, Cerrato, P, Costa, P, Dalla Volta, G, Del Sette, M, Del Zotto, E, Delodovici, Ml, Gandolfo, C, Giossi, A, Grassi, Mario, Iacoviello, L, Italian Project on Stroke in Young Adults, Investigators, Lodigiani, C, M, Magoni, Musolino, R, Paciaroni, M, Padovani, A, Patella, R, Pezzini, A, Rasura, M, Rota, Ll, Spalloni, A, Toriello, A, Volonghi, I, Zini, A   +27 more
core   +1 more source

Trisomy 5p: Long Recognized, Rarely Published‐ Three New Cases and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Complete trisomy 5p is a rare chromosomal disorder caused by a duplication of the short arm of chromosome 5. Current data suggest that complete trisomy 5p presents as a distinct clinical syndrome including but not limited to seizures, developmental delays, facial dysmorphisms, failure to thrive, and recurrent respiratory infections.
Gabriela J. Kim, Kristen N. Lee, Amanda B. Pritchard   +2 more
wiley   +1 more source

Intestinal Atresia in PPP1R12A‐Related Urogenital and Brain Malformation Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT PPP1R12A‐related urogenital and brain malformation syndrome (UBMS) is a newly described disorder characterized by congenital anomalies primarily involving the urogenital system and the brain. We describe a preterm female neonate with multiple congenital anomalies, including type IIIb jejunal atresia, incomplete intestinal rotation, imperforate
Adriana Gomes, Sanjana Karamcheti, Álvaro Martín Rodriguez, Anna‐Kaisa Niemi, Lynne M. Bird   +4 more
wiley   +1 more source

Current Nationwide Landscape of Cardiac Surgery for Children With Trisomy 18 in Japan

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Despite the increasing number of retrospective cohorts describing successful cardiac surgery for children with trisomy 18, no consensus has been reached among healthcare providers regarding cardiac surgery in Japan. This study provided a benchmark to facilitate consensus building by assessing a nationwide surgical database in Japan. A total of
Shintaro Nemoto, Hisateru Tachimori, Tomoki Kosho, Kanta Kishi, Noboru Motomura, Yasutaka Hirata   +5 more
wiley   +1 more source

Primary stroke in a woman with sickle cell anemia responsive to hydroxyurea therapy. [PDF]

, 2014
The most common cause of stroke in children with sickle cell anemia is infarction due to ischemia. In adults, however, stroke is most commonly hemorrhagic in nature. Other causes of stroke in patients with sickle cell disease are very rare. In this short
Ballas, Samir K., Martinez-Outshoorn, Ubaldo E., Savage, Michael P   +2 more
core   +2 more sources

The HRAS Variant c.175G>A (p.Ala59Thr) Causes a Predominantly Ectodermal Phenotype Lacking Classic Costello Syndrome Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Costello syndrome (CS) is a rare dominant HRAS RASopathy characterized by curly hair, cardiac abnormalities, craniofacial anomalies, and developmental delay. HRAS codon 58, 59, and 60 variants are associated with milder phenotypes. We describe a three‐generation family with a previously unreported heterozygous HRAS variant c.175G>A (p.Ala59Thr)
Nikole Rautiainen, Eveliina Brandt, Kaisa Kettunen, Outi Elomaa, Sirpa Kivirikko, Leila Jeskanen, Katriina Lappalainen, Nelli Sjöblom, Juha Kere, Katariina Hannula‐Jouppi, Liisa Harjama   +10 more
wiley   +1 more source

Percutaneous Closure of Patent Foramen Ovale in a Patient with Mirror-Image Dextrocardia and Situs Inversus

Cardiovascular Innovations and Applications, 2020
A 26-year-old patient with mirror-image dextrocardia and situs inversus experienced a transient ischemic attack. We suspected that a patent foramen ovale was the reason.
Xiaofei Jiang, Heng Zhang, Mingyang Qian
doaj   +1 more source