Results 11 to 20 of about 128,890 (256)

Microduplication of Xp22.31 and MECP2 Pathogenic Variant in a Girl with Rett Syndrome: A Case Report [PDF]

Iranian Journal of Medical Sciences, 2019
Rett syndrome (RS) is a neurodevelopmental infantile disease characterized by an early normal psychomotor development followed by a regression in the acquisition of normal developmental stages. In the majority of cases, it leads to a sporadic mutation in
Estephania Candelo, Diana Ramirez-Montaño, Harry Pachajoa   +2 more
doaj   +1 more source

Prevalence of congenital malformations at the “les Orangers” maternity and reproductive health Hospital of Rabat: descriptive study of 470 anomalies

BMC Pediatrics, 2020
Background Congenital malformations are described in about 3% of live births and 20% of stillbirths in the industrialized countries. The prevalence of congenital anomalies in developing countries, including Morocco, is not well known at the national ...
K. Forci, M. H. Alami, E. Bouaiti, M. Slaoui, A. Mdaghri Alaoui, A. Thimou Izgua   +5 more
doaj   +1 more source

Liver herniation into the pericardium mimicking a pericardial tumor: unusual presentation of trisomy 13

Journal of Ultrasonography, 2021
Aim of the study: Trisomy 13 is the third most common autosomal trisomy. The following case report shows an atypical case of trisomy 13, highlighting the usefulness of 3D volume storage and reconstruction, and the necessity of careful interpretation of ...
Szymkiewicz-Dangel Joanna, Hussey Maria Magdalena   +1 more
doaj   +1 more source

Orphan Drug Use in Patients With Rare Diseases: A Population-Based Cohort Study

Frontiers in Pharmacology, 2022
Background: Orphan drugs are used for the diagnosis, prevention and treatment of rare diseases that, in the European Union, are defined as disorders affecting no more than 5 persons in 10,000.
Francesca Gorini, Michele Santoro, Anna Pierini, Lorena Mezzasalma, Silvia Baldacci, Elena Bargagli, Alessandra Boncristiano, Maurizia Rossana Brunetto, Paolo Cameli, Francesco Cappelli, Giancarlo Castaman, Barbara Coco, Maria Alice Donati, Renzo Guerrini, Silvia Linari, Vittoria Murro, Iacopo Olivotto, Paola Parronchi, Francesca Pochiero, Oliviero Rossi, Barbara Scappini, Andrea Sodi, Alessandro Maria Vannucchi, Alessio Coi   +23 more
doaj   +1 more source

Risk of congenital anomalies near municipal waste incinerators in England and Scotland: Retrospective population-based cohort study

Environment International, 2020
Background: Few studies have investigated congenital anomalies in relation to municipal waste incinerators (MWIs) and results are inconclusive. Objectives: To conduct a national investigation into the risk of congenital anomalies in babies born to ...
Brandon Parkes, Anna L. Hansell, Rebecca E. Ghosh, Philippa Douglas, Daniela Fecht, Diana Wellesley, Jennifer J. Kurinczuk, Judith Rankin, Kees de Hoogh, Gary W. Fuller, Paul Elliott, Mireille B. Toledano   +11 more
doaj   +1 more source

Pattern of congenital anomalies among pediatric surgical patients in a tertiary care hospital in northern Tanzania

World Journal of Pediatric Surgery, 2022
Background Congenital anomalies are major causes of morbidity and mortality in children under 5 years of age and make a significant contribution to the surgical burden of diseases. Most anomalies have multifactorial causes and commonly affect the central
Faraja Mussa Magwesela, Happiness Rabiel, Catherine Mlelwa Mung'ong'o   +2 more
doaj   +1 more source

Congenital anomalies during the 2015–2018 Zika virus epidemic: a population-based cross-sectional study

BMC Public Health, 2022
Background Congenital anomalies are associated with several clinical and epidemiological complications. Following the Zika epidemic onset in Latin America, the incidence of congenital anomalies increased in Brazil.
Fabio Antonio Venancio, Maria Eulina Quilião, Danielli de Almeida Moura, Micael Viana de Azevedo, Sahra de Almeida Metzker, Lisany Krug Mareto, Márcio José de Medeiros, Cláudia Du Bocage Santos-Pinto, Everton Falcão de Oliveira   +8 more
doaj   +1 more source

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

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 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