Can Free Carnitine or Bilirubin in Blood Be Used in Neonatal Screening for Biliary Atresia?
Conclusion In free carnitine, DB, and CBMS/TBMS tests, blood concentrations are elevated in all infants with BA. However, they may not be elevated while they are newborns. These tests will result in high false negatives or positives. Thus, they should not be used as newborn screening tests for BA due to their lower sensitivity and specificity. [...] Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents | Abstract | Full text
Authors: Lopez RN, Lemberg DA Abstract Gastro-oesophageal reflux (GOR) in infancy is common, physiological and self-limiting; it is distinguished from gastro-oesophageal reflux disease (GORD) by the presence of organic complications and/or troublesome symptomatology. GORD is more common in infants with certain comorbidities, including history of prematurity, neurological impairment, repaired oesophageal atresia, repaired diaphragmatic hernia, and cystic fibrosis. The diagnosis of GORD in infants relies almost exclusively on clinical history and examination findings; the role of invasive testing and empirical trials...
ConclusionOur study shows that it is important to perform clinical genetic investigations, including CNV analysis, in patients with congenital gastrointestinal malformations since this leads to improved information to families as well as an increased understanding of the pathogenesis.
CONCLUSIONS: Patients with CHARGE syndrome have a high prevalence of characteristic cerebellar heterotopias and disorganized foliation and abnormal cerebellar morphology, thereby expanding the phenotype of cerebellar dysgenesis in this syndrome.
Conclusions: Ovarian reserve of offspring diminished with RF exposure during pregnancy. Omega-3 supplementation during pregnancy may reduce the potential premature ovarian failure. PMID: 31820670 [PubMed - as supplied by publisher]
Rachel Gregoire's daughter, Alice, has esophageal atresia, which means she regularly needs to see a pediatrician. But since Yorkton lost its only pediatrician in September, the Gregoire family now needs to drive to Regina every two weeks for appointments.
To assess long-term neurodevelopmental outcomes in school-aged children with biliary atresia.
CONCLUSIONS.: Prenatal diagnosis increases survival from severe congenital heart disease. However, cyanotic heart diseases and other congenital anomalies, which decrease this chance, should be considered, if surgery is performed or complications occur. PMID: 31800935 [PubMed - in process]
Klin Padiatr DOI: 10.1055/a-1044-2571 © Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents | Full text
Condition: Esophageal Atresia With Tracheoesophageal Fistula Intervention: Diagnostic Test: high resolution impedance manometry Sponsors: Great Ormond Street Hospital for Children NHS Foundation Trust; National Institute for Health Research, United Kingdom Not yet recruiting
Abstract Background: The improvement in surgical techniques has contributed to an increasing number of childbearing women with complex congenital heart disease (CCC). However, adequate counseling about pregnancy in this situation is uncertain, due to a wide variety of residual cardiac lesions. Objectives: To evaluate fetal and maternal outcomes in pregnant women with CCC and to analyze the predictive variables of prognosis. Methods: During 10 years we followed 435 consecutive pregnancies in patients (pts) with congenital heart disease. Among of them, we selected 42 pregnancies in 40 (mean age of 25.5 ± 4.5 years) pt...