نتایج جستجو برای: anorectal malformations

تعداد نتایج: 18916  

Journal: :BMC Surgery 2007
Akshay Pratap Awadhesh Tiwari Anand Kumar Shailesh Adhikary Satyendra Narayan Singh Bishnu Hari Paudel Rajiv Bartaula Brijesh Mishra

BACKGROUND This report describes a new technique of sphincter saving anorectoplasty (SSARP) for the repair of anorectal malformations (ARM). METHODS Twenty six males with high ARM were treated with SSARP. Preoperative localization of the center of the muscle complex is facilitated using real time sonography and computed tomography. A soft guide wire is inserted under image control which serve...

2013
Emily H. M. Wong Chun-Laam Ng Vincent Chi-Hang Lui Man-ting So Stacey S. Cherny Pak-Chung Sham Paul Kwong-Hang Tam Maria-Mercè Garcia-Barceló

Anorectal malformations (ARMs) are birth defects that require surgery and carry significant chronic morbidity. Our earlier genome-wide copy number variation (CNV) study had provided a wealth of candidate loci. To find out whether these candidate loci are related to important developmental pathways, we have performed an extensive literature search coupled with the currently available bioinformat...

Journal: :Human molecular genetics 2013
Emily H M Wong Long Cui Chun-Laam Ng Clara S M Tang Xue-Lai Liu Man-Ting So Benjamin Hon-Kei Yip Guo Cheng Ruizhong Zhang Wai-Kiu Tang Wanling Yang Yu-Lung Lau Larry Baum Patrick Kwan Liang-Dan Sun Xian-Bo Zuo Yun-Qing Ren Xian-Yong Yin Xiao-Ping Miao Jianjun Liu Vincent Chi-Hang Lui Elly Sau-Wai Ngan Zhen-Wei Yuan Shi-Wei Zhang Jinglong Xia Hualong Wang Xiao-bing Sun Ruoyi Wang Tao Chang Ivy Hau-Yee Chan Patrick Ho-Yu Chung Xue-Jun Zhang Kenneth Kak-Yuen Wong Stacey S Cherny Pak-Chung Sham Paul Kwong-Hang Tam Maria-Mercè Garcia-Barcelo

Anorectal malformations (ARMs, congenital obstruction of the anal opening) are among the most common birth defects requiring surgical treatment (2-5/10 000 live-births) and carry significant chronic morbidity. ARMs present either as isolated or as part of the phenotypic spectrum of some chromosomal abnormalities or monogenic syndromes. The etiology is unknown. To assess the genetic contribution...

2016
Manoj Saha

Anorectal malformation (ARM) is one of the most common congenital anomaly that requires emergency surgery in the neonatal period. ARMs are frequently associated with other life threatening congenital anomalies. Commonly associated anomalies are genito-urinary, cardiovascular, gastro-intestinal, skeletal and spinal. Alimentary tract anomalies are frequently masked by the intestinal obstruction p...

Journal: :Pakistan Journal of Medical and Health Sciences 2022

Introduction: Low variety anorectal malformations (ARM) include almost one half of all malformations. Most them undergo single stage anoplasty in neonatal age as an emergency procedure. Anal Dilatation is started after 10-14 days surgery a general protocol. Aim our study was to measure the outcome weekly dilatation instead daily plan low ARM patients undergoing terms complications. Materials an...

2015
Sotirios Siminas Colin Tennant Baillie Richard Turnock

Kabuki syndrome (KS) is a rare genetic condition characterized by a distinctive facies, intellectual disability, growth delay, and a variety of skeletal, visceral, and other anomalies, including anorectal malformations (ARMs). We present two cases of female patients with KS, diagnosed and successfully managed at our institution, one with a perineal fistula and one with a rectovestibular fistula...

2017
Arushi Agarwal K N Rattan Ankur Dhiman Ananta Rattan

Introduction. Congenital anomalies are important causes of childhood death, chronic illness, and disability in many countries. Congenital malformations are rapidly emerging as one of the major worldwide problems. Aim. To study the percentage of various congenital anomalies among the patients admitted in Department of Pediatric Surgery at a tertiary care centre over a period of four years from 2...

Journal: :Molecular syndromology 2013
R E Stevenson A G W Hunter

The nonrandom co-occurrence of vertebral, anorectal, cardiac, tracheoesophageal, genitourinary, and limb malformations, recognized as the VACTERL association, has not been satisfactorily explained from either a causation or embryopathogenesis standpoint. Few familial cases have been identified and maternal diabetes is the only environmental influence implicated to date. Mutations in single gene...

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