Results 51 to 60 of about 1,090,949 (282)

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

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

Syndromic Intellectual Disability Caused by a Novel Truncating Variant in AHDC1: A Case Report [PDF]

Iranian Journal of Medical Sciences, 2019
Mutations in the AHDC1 gene are associated with the Xia-Gibbs syndrome (XGS), a sporadic genetic disorder characterised by developmental delay, intellectual disability, hypotonia, obstructive sleep apnoea, dysmorphic facial features, and cerebral ...
Lorena Díaz-Ordoñez, Diana Ramirez-Montaño, Estephania Candelo, Santiago Cruz, Harry Pachajoa   +4 more
doaj   +1 more source

The biopharmaceutical anomaly [PDF]

Nature Biotechnology, 2020
Investment and funding has continued to flow into biotech, unlike most business sectors. But with healthcare and hospital budgets increasingly under pressure, do belt-tightening and consolidation lie ahead? Melanie Senior investigates, with additional reporting by Riku Lahteenmaki.
openaire   +2 more sources

The Fate (Outcome) of Clinically Apparent Single Lesion and Oligofocal Nephroblastomatosis Treated According to SIOP/GPOH Protocols for Wilms Tumor

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background The management of clinically apparent single lesions or oligofocal nephroblastomatosis, a facultative precursor of nephroblastoma, remains debated. Methods We retrospectively analyzed 37 patients with clinically apparent single or oligofocal nephroblastomatosis (two to three lesions per kidney) among 2347 patients registered between
Nils Welter, Jens‐Peter Schenk, Jenny Wegert, Manfred Gessler, Leo Kager, Stefan Wagenpfeil, Marina Müller, Jean‐Michel Wolff, Joerg Fuchs, Steven W. Warmann, Clemens‐Magnus Meier, Jochen Hubertus, Christian Rübe, Christian Vokuhl, Patrick Melchior, Lena Tschirner, Norbert Graf, Rhoikos Furtwängler   +17 more
wiley   +1 more source

Anomalies in noncommutative gauge theories, Seiberg-Witten transformation and Ramond-Ramond couplings

, 2003
We propose an exact expression for the unintegrated form of the star gauge invariant axial anomaly in an arbitrary even dimensional gauge theory. The proposal is based on the inverse Seiberg-Witten map and identities related to it, obtained earlier by ...
Armoni A., Asakawa T., Banerjee R., Bonora L., Bonora L., Elliott G. A., Gracia-Bondia J. M., Grandi N., Grisaru M., Intriligator K., Liu H., Liu H., Martin C. P., Mukhi S., Nakajima T., Okawa Y., RABIN BANERJEE, Seiberg N.   +17 more
core   +2 more sources

Prenatal Ultrasound Diagnosis and Short-term Outcome of Congenital Malformations: Experience of the Maternity and Reproductive Health Hospital “Les Orangers” - Rabat, Morocco, between 2011-2016 [PDF]

Iranian Journal of Neonatology
Background: The objective of our study to analyze the data of the prenatal diagnosis of congenital malformations at the maternity and reproductive health hospital "Les Orangers" in Rabat and to identify the main anomalies detected, their percentage and ...
Khenata Forci, Mohamed Hassan Alami, El Arbi Bouaiti, Asmaa Mdaghri Alaoui, Amal Thimou Izgua   +4 more
doaj   +1 more source

Simulated Angiography Using a Bleomycin Mixture for Sclerotherapy of Lymphatic Malformations

Frontiers in Pediatrics, 2020
Objective: Repeat sclerotherapy of lymphatic malformations (LMs) is challenging. Accordingly, the aim of the present article is to describe a simulated angiography technique—a new method of bleomycin infusion for the treatment of LMs to achieve better ...
Lei Guo, Changhua Wu, Xiaoyan Li, Dan Song, Jiali Sun, Yunkui Zhang   +5 more
doaj   +1 more source

Obstructive Sleep Apnea in Adults with Treacher Collins Syndrome is Related with Altered Anthropometric Measurements, Increased Blood Pressure and Impaired Quality of Life

Sleep Science, 2023
Objectives This study aimed at evaluating the risk for obstructive sleep apnea (OSA) and its frequency in adults with Treacher Collins syndrome (TCS).
Leide Vilma Fidélis-da Silva, Sergio Henrique Kiemle-Trindade, Maria Noel Marzano-Rodrigues, Laís Hollara Medeiros, Cristiano Tonello, Ivy Kiemle Trindade-Suedam   +5 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