Anaesthesia and postoperative analgesia in surgical neonates with or without Downs syndrome: Is it really different? [PDF]
BackgroundReports conflict on optimal postoperative analgesic treatment in children with intellectual disability. We retrospectively compared postoperative analgesics consumption between neonates with and without Downs syndrome in relation to anaesthesia
Dijk, M. (Monique) van +5 more
core +3 more sources
Genetic Diagnoses Among Congenital Anomaly Cases in Europe: Data From the EUROCAT Network
ABSTRACT Background Surveillance of congenital anomaly prevalence over time can identify new teratogens. Anomalies with a genetic cause are excluded from the monitoring. Objectives We examined temporal changes in the proportion of genetic diagnoses among cases with a congenital anomaly.
Jorieke E. H. Bergman +23 more
wiley +1 more source
Atresia anal en el perro y el gato [PDF]
Ponencia en el XXXI CONGRESO NACIONAL DE LA ASOCIACIÓN MEXICANA DE MÉDICOS VETERINARIOS ESPECIALISTAS EN PEQUEÑAS ESPECIES, A.C.La atresia anal es una patología poco frecuente con una prevalencia del 0.13% y del 1.6% para el caso de los perros y de los ...
BARBOSA MIRELES, MARCO ANTONIO +11 more
core
Epidemiologic analysis of families with isolated anorectal malformations suggests high prevalence of autosomal dominant inheritance [PDF]
Background: Anorectal malformations (ARM) are rare abnormalities that occur in approximately 1 in 3000 live births with around 40% of patients presenting with isolated forms.
Dworschak, Gabriel C. +11 more
core +1 more source
ABSTRACT Heterozygous pathogenic variants in TBX3 cause Ulnar‐Mammary syndrome (UMS). The phenotype is classically characterized by upper limb defects, apocrine/mammary gland hypoplasia, hypogonadism, and various midline defects. However, the clinical spectrum is highly variable, and some individuals may present with a mild or atypical presentation ...
Ziv Halperin, Karin Weiss
wiley +1 more source
We are describing an extremely rare clinical case of two congenital anomalies coexist simultaneously in a full term 18 months-old girl, known down syndrome with imperforate anus.
Ahmed Alahmari, Jamila Al Maary
doaj +1 more source
Whole exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association [PDF]
Congenital abnormalities of the kidney and urinary tract (CAKUT) account for approximately half of children with chronic kidney disease and they are the most frequent cause of end-stage renal disease in children in the US.
Bartels, Enrika +34 more
core +2 more sources
The Impact of Chlamydia Treatment During Pregnancy on Birth Defects in New York State
ABSTRACT Background Chlamydia trachomatis (CT) diagnoses are highest among females of reproductive age. Yet, little is known about adverse infant outcomes associated with treatment for CT infections during pregnancy, including birth defects. Methods Using de‐identified matched data from the New York State (NYS) Sexually Transmitted Infection ...
Elizabeth M. Boos +6 more
wiley +1 more source
Gastroschisis: Ward Reduction Compared With Traditional Reduction Under General Anesthesia [PDF]
Background/Purpose In gastroschisis it is proposed that gut reduction may be achieved without intubation or general anesthesia (GA) through ward reduction.
Bianchi +14 more
core +1 more source
Drugs in focus: Budesonide and its role in paediatric gastrointestinal disorders
Abstract Budesonide is a glucocorticoid with strong topical anti‐inflammatory properties and minimal systemic effects due to extensive first‐pass hepatic metabolism. It is designed for targeted delivery within the gastrointestinal (GI) tract and is available in oral and rectal formulations.
Sohail Aziz +11 more
wiley +1 more source

