Results 51 to 60 of about 1,957 (209)

Heterotaxy Syndrome with Polysplenia, Fused Adrenal Glands, and Diabetes Mellitus

Clinical Medicine Insights: Cardiology, 2022
Heterotaxy syndrome is a rare congenital heart disease with a disarrangement of the heart and abdominal organs. We present a young African female with features of heart failure, diffuse irregular cardiac murmurs, and palpable, tender epigastric mass.
Abid M Sadiq, Adnan M Sadiq
doaj   +1 more source

Inflammation, Active Fibroplasia, and End-stage Fibrosis in 172 Biliary Atresia Remnants Correlate Poorly With Age at Kasai Portoenterostomy, Visceral Heterotaxy, and Outcome [PDF]

, 2018
Published histologic studies of the hilar plate or entire biliary remnant at the time of Kasai portoenterostomy (KHPE) have not provided deep insight into the pathogenesis of biliary atresia, relation to age at surgery, prognosis or the basis for ...
Arva, Bove, Chen, Davenport, Davenport, De Jong, Feldman, Gautier, Gautier, Gautier, Harpavat, Harpavat, Humphrey, Kolb, Lobeck, Mack, Magalhaes, Mirkin, Nakamura, Petersen, Russo, Sarinet, Schwarz, Shen, Song, Stahlschmidt, Superina, Tan, Tanaka, Volpert, Wong, Yam-Puc, Zheng   +32 more
core   +1 more source

Heterotaxy syndrome with complex congenital heart disease, facial palsy, and asplenia: A rare newborn finding

Clinical Case Reports, 2021
Heterotaxy syndrome is associated with asplenia/polysplenia and complex congenital heart disease. Facial palsy in heterotaxy is very rare. The management is still challenging with a poor prognosis. Proper counseling to the family about the disease course,
Sanjeev Kharel, Dinesh Prasad Koirala, Suraj Shrestha, Hari Sedai, Bibek Man Shrestha, Sushan Homagain, Suraj Kandel   +6 more
doaj   +1 more source

Polüspleeniaga heterotaksia sündroom [PDF]

, 2015
Eesti Arst 2015; 94(11):675 ...
Tiivel, Marek
core   +2 more sources

Integrating Chain‐of‐Thought and Retrieval Augmented Generation Enhances Rare Disease Diagnosis From Clinical Notes

Medicine Bulletin, Volume 2, Issue 2, Page 167-183, March 2026.
ABSTRACT Background Several studies show that large language models (LLMs) struggle with phenotype‐driven gene prioritization for rare diseases. These studies typically use Human Phenotype Ontology (HPO) terms to prompt foundation models such as GPT and LLaMA to predict candidate genes.
Zhanliang Wang, Da Wu, Quan Nguyen, Kai Wang   +3 more
wiley   +1 more source

Multiplex ligation-dependent probe amplification detection of an unknown large deletion of the CREB-binding protein gene in a patient with Rubinstein-Taybi syndrome [PDF]

, 2013
Rubinstein-Taybi syndrome is a rare autosomal dominant congenital disorder characterized by postnatal growth retardation, psychomotor developmental delay, skeletal anomalies, peculiar facial morphology, and tumorigenesis.
Calì,F, Chiavetta,V, Failla,P, Ragalmuto,A, ROMANO, Valentino, Romano,C, Ruggeri,G, Schepis,C, Schinocca,P   +8 more
core   +1 more source

Incidental Diagnosis of Situs Inversus Totalis in a 45‐Year‐Old Male Who Presented With Acute Asthma Exacerbation: A Case Report and Brief Literature Review

Clinical Case Reports, Volume 13, Issue 11, November 2025.
ABSTRACT Incidental situs inversus totalis (SIT) requires thorough anatomical mapping to exclude associated syndromes (e.g., Kartagener) and congenital anomalies. Early identification, patient education on mirrored anatomy, and multidisciplinary coordination are essential to prevent iatrogenic errors during future interventions, even in asymptomatic ...
Ragasa Getachew Bayisa, Lensa Million Baharu, Mohammed Mecha Abafogi, Yosef Bekele Bonsa, Mohammed Kedir Shukri, Tamirat Godebo Woyimo   +5 more
wiley   +1 more source

Breaking patterns: Multiple spleens and the absent right kidney—A rare and unique case report in a 33-year-old burn victim

Rare
Polysplenia is a congenital condition characterized by the presence of multiple small accessory spleens with absent of primary spleen. While polysplenia may occur in isolation or may be present as part of Polysplenia syndrome.
Jayeshkumar Kanani, Mohammed Iliyas Sheikh   +1 more
doaj   +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, Mohit D. Gupta, Prattay Guha Sarkar, Ankit Bansal, Sanjay Tyagi   +4 more
doaj   +1 more source

Appropriate Route Selection for Extracardiac Total Cavopulmonary Connection in Apicocaval Juxtaposition [PDF]

, 2012
BACKGROUND:A malpositioned heart with apicocaval juxtaposition may complicate the management of patients with functional single ventricles when total cavopulmonary connection is performed.
Abe Masakazu, Hiramatsu Yuji, Kanemoto Shinya, Kato Hideyuki, Morizumi Sei, Noma Mio, Sakakibara Yuzuru, 平松 祐司, 榊原 謙, 金本 真也   +9 more
core   +1 more source