Results 61 to 70 of about 1,594 (165)
Long‐Read Sequencing as a Diagnostic Tool for Primary Ciliary Dyskinesia
Case Reports in Genetics, Volume 2025, Issue 1, 2025.Primary ciliary dyskinesia (PCD) is a rare, inherited disease resulting from abnormal structure and/or function of cilia. To date, pathogenic variants in over 50 genes have been reported as causes of PCD. One of the genes, HYDIN, presents a diagnostic challenge due to the existence of HYDIN2, a highly homologous pseudogene that significantly ...
Liora H. Feshbach +8 more
wiley +1 more source
Unusual, unexpected course of temporary pacing lead leading to diagnosis of a rare syndrome
IHJ Cardiovascular Case Reports, 2019 We describe a case of an elderly female with complete heart block where temporary pacemaker insertion led to diagnosis of inferior vena cava interruption, leading further to diagnosis of polysplenia syndrome.
M.P. Girish +4 more
doaj +1 more source
Prenatal Diagnosis, Volume 44, Issue 13, Page 1647-1658, December 2024.ABSTRACT Purpose MYRF‐related cardiac‐urogenital syndrome (MYRF‐CUGS) is a rare condition associated with heterozygous MYRF variants. The description of MYRF‐CUGS phenotype is mostly based on postnatal cases and 36 affected individuals have been published so far.
Maud Favier +34 more
wiley +1 more source
Ivemark syndrome: asplenia with kidney collecting duct cysts and polysplenia with cerebellar cyst
The Turkish Journal of Pediatrics, 2000 Two newborns, one male and one female, from two different families, with Ivemark syndrome proven at autopsy are reported. One of them had asplenia and another had polysplenia.
V Krźelj +5 more
doaj
Unusual association of polysplenia syndrome with abdominal teratoma
Journal of Indian Association of Pediatric Surgeons, 2011 Report of a hitherto unreported association of polysplenia, teratoma and eventration of diaphragm.
Kushaljit Singh Sodhi +5 more
doaj +1 more source
Pediatric Transplantation, Volume 28, Issue 8, December 2024.Intestinal complications (IC) are significant adverse events following liver transplantation (LT), yet research on pediatric cohorts remains limited. This study aims to describe IC in children after LT and identify factors associated with their occurrence.
Sindy Pires +4 more
wiley +1 more source
Congenital lobar emphysema associated with polysplenia syndrome
Annals of Saudi Medicine, 2010 Polysplenia, or left isomerism, is a rare heterotaxy syndrome characterized by bilateral bi-lobed lungs, bilateral pulmonary atria, a symmetrical midline liver, and multiple aberrant splenic nodules.
Choh Naseer +3 more
doaj
Right Hemicolectomy in a Patient with Heterotaxy Syndrome
World Journal of Colorectal Surgery, 2019 In this communication, we present a first description of right hemicolectomy in a patient with heterotaxy syndrome (HS). A 78-year-old male was admitted to the outpatient clinic with complaints of dysphagia.
Maxime Dewulf +2 more
doaj +1 more source
Therapeutics and Clinical Risk Management, 2019 Yun Feng, Jin-Ning Ye, Chuang-Qi Chen, Xin-Hua ZhangThe Center for Gastrointestinal Surgery, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, 510080, People’s Republic of ChinaAbstract: Gastric duplications are the least common ...
Feng Y, Ye JN, Chen CQ, Zhang XH
doaj
Situs Ambiguous with Polysplenia
Gazi Medical Journal, 2012 Situs ambiguous with polysplenia is a situs abnormality characterized by the duplication of left-sided organs and presence of multiple spleens. Situs anomalies are rare conditions with a developmental origin where the inner organs are located other than in their normal localizations.
KILIÇ, HÜSEYİN KORAY +3 more
openaire +2 more sources