Results 31 to 40 of about 227,365 (300)

Double appendix and anorectal malformation: A case report

Journal of Pediatric Surgery Case Reports
Background: Double appendix, also known as vermiform appendix duplex, is a rare congenital anomaly. It is estimated to occur in 1 in 25,000 people with fewer than hundred cases reported worldwide.
Amir Ibrahim, Mohamed Mansy, Mohamed Reda, Mostafa Kotb, Mohamed Abokandil   +4 more
doaj   +1 more source

Ureteral versus appendiceal Mitrofanoff channels: a retrospective analysis of functional outcomes and complications

BMC Surgery
Introduction The Mitrofanoff principal entails creating a continent catheterizable channel, traditionally the appendix. In patients with nonfunctioning kidney, the ureter of this kidney can be an alternative This study aims to compare outcomes of ureter ...
Mohamed Mansy, Mostafa Kotb, Mohamed Abokandil, Amr Salama, Mohamed Gamal, Saber Waheeb, Mostafa Zain   +6 more
doaj   +1 more source

Ureteral atresia presenting as an abdominal cyst: A case report

Journal of Pediatric Surgery Case Reports
Background: Ureteral atresia is a rare disease that is usually associated with a non-functioning dysplastic kidney. The condition may be unilateral or bilateral, short, or long, and may involve any part of the ureter.
Amir Ibrahim, Mohamed Mansy, Mostafa Kotb, Mohamed Abokandil, Saber Waheeb   +4 more
doaj   +1 more source

Congenital muscular dystrophy: from muscle to brain. [PDF]

, 2016
Congenital muscular dystrophies (CMDs) are a wide group of muscular disorders that manifest with very early onset of muscular weakness, sometime associated to severe brain involvement.The histologic pattern of muscle anomalies is typical of dystrophic ...
Corsello G, Falsaperla R, Parano E, Pavone P, Praticò AD, Rizzo R, Ruggieri M, Vitaliti G   +7 more
core   +1 more source

Outcomes of Live Virus Vaccination in Patients With Vascular Anomalies Being Treated With Sirolimus

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Live vaccination in patients with vascular anomalies (VA) receiving sirolimus remains controversial due to immunosuppressive effects and theoretical risks. Procedure This single‐center retrospective study included patients with VA less than 4 years old at the start of sirolimus therapy who were incompletely vaccinated.
Svatava Merkle, Kiersten Ricci, Kelly Blache, Rebecca A. Marsh, Adrienne M. Hammill, Elissa Engel   +5 more
wiley   +1 more source

Congenital Anomalies

Medwave, 2012
Congenital anomalies in conjunction with intrauterine growth restriction account for 50-60% of fetal mortality. This article describes major birth defects by systems; most can be diagnosed by ultrasound while others cannot. Some anomalies develop later in pregnancy and in some cases sonographic examination may suggest the presence of a nonexistent ...
Bernardita Donoso Bernales, Enrique Oyarzún Ebensperger   +1 more
openaire   +3 more sources

Progressive familial intrahepatic cholestasis type 4: a case report

Journal of Medical Case Reports
Background Progressive familial intrahepatic cholestasis is an autosomal recessive genetic disorder that manifests primarily with jaundice and pruritus and can progresses from persistent cholestasis to cirrhosis and late childhood liver failure ...
Mohamed Abdelmalak Abokandil, Saber Waheeb, Wessam Zaghloul, Manal Abdelgawad, Mona Abdelhady, Mohamed Mansy, Mostafa Kotb   +6 more
doaj   +1 more source

Germline TP53 Mutations Causing Diamond–Blackfan Anemia: A French Report

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Diamond–Blackfan anemia is a rare congenital erythroblastopenia typically caused by mutations in ribosomal protein genes. Recently, gain‐of‐function mutations in TP53 have been identified as a novel cause of Diamond–Blackfan anemia. We report two French patients who both harbored a heterozygous TP53 deletion (NM_000546.5: c.1077delA; p ...
Rafael Moisan, Lydie Da Costa, Ludivine David Nguyen, Heloise Chosseler, Audrey Riquet, Benedicte Bruno, Melissa Barbati   +6 more
wiley   +1 more source

Swenson-like pull-through for treatment of the rare association between Hirschsprung’s disease and anorectal malformation

BMC Pediatrics
Background Anorectal malformations and Hirschsprung’s disease are congenital conditions impacting the digestive system, with a particularly uncommon co-occurrence, estimated at 2–3% of all ARM cases.
Mohamed Abdelmalak, Mohamed Mansy, Hazem Khafaga, Yasmine Ghazaly, Reem Saeed, Nada Yakout, Saber Waheeb, Mostafa Zain   +7 more
doaj   +1 more source

Pattern of congenital anomalies at birth and their correlations with maternal characteristics in the maternity teaching hospital, Erbil city, Iraq

BMC Pregnancy and Childbirth, 2018
Background Congenital anomalies are a worldwide problem, causing perinatal and infant deaths and postnatal physical disabilities. This study aimed to determine the pattern and associated factors of the congenital anomalies in newborns delivered at the ...
Sozan K. Ameen, Shahla Kareem Alalaf, Nazar P. Shabila   +2 more
doaj   +1 more source