Results 41 to 50 of about 9,336,073 (253)

Testing the Feasibility of a Passive and Active Case Ascertainment System for Multiple Rare Conditions Simultaneously: The Experience in Three US States [PDF]

, 2016
Background: Owing to their low prevalence, single rare conditions are difficult to monitor through current state passive and active case ascertainment systems.
Mann, Joshua, McDermott, Suzanne, Reichard, Amanda, Royer, Julie, Ruttenber, Margaret, Smith, Michael G., Valdez, Rodolfo   +6 more
core   +3 more sources

Prevalence and Association of Congenital Heart Disease with Hirschsprung’s Disease

Siriraj Medical Journal
Objective: Neurocristopathies play a role as pathogenesis of Hirschsprung’s disease and congenital heart diseases (CHDs). This study seeks to identify concomitant deformities, syndromes, and/or associations associated with Hirschsprung’s disease warrant
Ravit Ruangtrakool, Thawanrat Charoenchantra   +1 more
doaj   +1 more source

Hirschsprung’s Disease in Neonates with Special Reference to Calretinin Immunohistochemistry [PDF]

Journal of Clinical and Diagnostic Research, 2015
Background: Hirschsprung’s disease is a classic example of a complex genetic disease, characterized by the lack of enteric ganglia in the submucosal and myenteric plexuses, along variable portions of the distal gut.
Biswanath Mukhopadhyay, Madhumita Mukhopadhyay, Kartic Chandra Mondal, Moumita Sengupta, Antara Paul   +4 more
doaj   +1 more source

Characterization of Intestinal Microbiomes of Hirschsprung’s Disease Patients with or without Enterocolitis Using Illumina-MiSeq High-Throughput Sequencing

PLoS ONE, 2016
Hirschsprung-associated enterocolitis (HAEC) is a life-threatening complication of Hirschsprung’s disease (HD). Although the pathological mechanisms are still unclear, studies have shown that HAEC has a close relationship with the disturbance of ...
Yuqing Li, V. Poroyko, Zhilong Yan, Li-Ya Pan, Yi Feng, Peihua Zhao, Zhoulonglong Xie, L. Hong   +7 more
semanticscholar   +1 more source

Hirschsprung’s Disease in Patients of Advanced Age

International Journal of Gerontology, 2012
Hirschsprung’s disease is a congenital motility disorder that is easily overlooked as a cause of chronic refractory constipation in adults. We present a case of Hirschsprung’s disease in a patient 70 years of age with a history of long-standing ...
Ina Vrints, Mircea Costache, Sebastian Dobos, Sixte Henry Sondji, Michel Fiasse, Serge Landen   +5 more
doaj   +1 more source

Targeted next-generation sequencing on hirschsprung disease: A pilot study exploits DNA pooling [PDF]

, 2014
To adopt an efficient approach of identifying rare variants possibly related to Hirschsprung disease (HSCR), a pilot study was set up to evaluate the performance of a newly designed protocol for next generation targeted resquencing.
Bao, Jessie Yunjuan, Bui, Duc Hau, Cherny, Stacey S., Garcia-Barcelo, Maria Mercè, Gui, Hongsheng, Lok, Si, Ngo, Diem Ngoc, Nguyen, Thanh Liem, Pham, Duy Hien, Sham, Pak Chung, So, Man Ting, Tam, Paul Kwong Hang, Tang, Clara Sze Man, Tong, Amy, Tran, Anh Quynh   +14 more
core   +1 more source

Robot assisted laparoscopic Duhamel pull through

Journal of Pediatric Surgery Case Reports, 2020
Aim: This case report is to discuss the first ever reported case in the literature of Robotic Duhamel procedure for Hirschsprung's disease. Material and method: A 3-year old female child, diagnosed case of Hirschsprung's disease underwent a Robot ...
Gursev Sandlas, Vipul Bothara, Mohammad Takrouney, Harshal Wagh   +3 more
doaj   +1 more source

Evolutionary Signatures amongst Disease Genes Permit Novel Methods for Gene Prioritization and Construction of Informative Gene-Based Networks [PDF]

, 2015
Genes involved in the same function tend to have similar evolutionary histories, in that their rates of evolution covary over time. This coevolutionary signature, termed Evolutionary Rate Covariation (ERC), is calculated using only gene sequences from a ...
Clark, NL, Priedigkeit, N, Wolfe, N
core   +1 more source

Laparoscopy-assisted transanal endorectal pull-through for the management of hirschsprung's disease in Nigeria: Report of two cases

Nigerian Journal of Surgery, 2020
Hirschsprung's disease is a relatively common disease in pediatric colorectal surgery. The treatment modalities have evolved from third-stage to single-stage in the past three decades. The single-stage procedure can be performed using the open, transanal
Adesoji O Ademuyiwa, Olumide A Elebute, Olanrewaju S Balogun, Ibironke Desalu, Lohfa B Chirdan, Christopher O Bode   +5 more
doaj   +1 more source

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source