Results 71 to 80 of about 49,489 (300)

Maternal Sirolimus Treatment Reverses Cardiac Rhabdomyoma‐Induced Hydrops Fetalis in a Twin Gestation With Tuberous Sclerosis Complex

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardiac rhabdomyomas are often the presenting sign of tuberous sclerosis complex (TSC). Prior reports have shown that maternal sirolimus treatment can reduce rhabdomyomas. We used maternal sirolimus to reverse hydrops fetalis due to a massive cardiac rhabdomyoma in a twin gestation.
David M. Ritter   +6 more
wiley   +1 more source

Familial Clustering of Unexplained Transient Respiratory Distress in 12 Newborns from Three Unrelated Families Suggests an Autosomal-Recessive Inheritance

open access: yesThe Scientific World Journal, 2007
We report on 12 near-term babies from three families in which an unexplained transient respiratory distress was observed. No known risk factor was present in any family and no sequelae were recorded at follow-up.
Andrea Guala   +9 more
doaj   +1 more source

Kartagener syndrome: An unusual cause of respiratory distress in the newborn

open access: yesNigerian Journal of Medicine, 2007
Kartagener Syndrome (KS) a rare genetic disorder belongs to a group of disorders referred to as primary ciliary dyskinesia (PCD) where the cilia covering the respiratory epithelium is either immotile or beat in an uncoordinated fashion. It is characterized by a triad of dextrocardia (with or without situs inversus), chronic sinusitis and bronchiectasis
AU Eneh, BE Otaigbe, RO Ugwu
openaire   +4 more sources

Study of Early Predictors of Fatality in Mechanically Ventilated Neonates in NICU [PDF]

open access: yes, 2009
Objective: To evaluate the risk factors associated with fatality in mechanically ventilated neonates using multiple regression analysis. Design & settings: Prospective study conducted at Neonatal ICU at New Civil Hospital, Surat – a tertiary care centre,
Chudasama, RK   +2 more
core   +1 more source

Genotype–Phenotype Correlations, Mortality, and Clinical Insights in Keratitis–Ichthyosis–Deafness Syndrome: A Comprehensive Review and Case Report

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Keratosis–ichthyosis–deafness (KID) syndrome is a rare autosomal dominant ectodermal disease caused by mutations in the GJB2 gene, which encodes the gap junction protein Connexin 26 (Cx26) located on Chr. 13q12.11. This study presents the first mortality analysis associated with KID syndrome, focusing on a case report of a Latin American ...
Leslie Patrón‐Romero   +17 more
wiley   +1 more source

Ectopia cordis : a report of two cases in Cameroon [PDF]

open access: yes, 2014
This article reports two cases of ectopia cordis in two children aged one day and twenty months respectively. A one day old newborn had complete thoracic ectopia cordis associated with an internal cardiac defect and severe thoracic and abdominal wall ...
Chelo, David   +6 more
core   +1 more source

The Association Between Maternal Asthma and Child Autism: A Systematic Review and Meta‐Analysis

open access: yesAutism Research, EarlyView.
ABSTRACT Maternal asthma has been linked to child autism. In this study, we systematically reviewed observational studies published between July 2001 and February 2024 that assessed maternal asthma during pregnancy (exposure) and child autism (outcome). Databases searched included MEDLINE, CINAHL, EMBASE, and PsycINFO.
Renee van der Schaaf   +5 more
wiley   +1 more source

Current Issues and Challenges in the Use of Aerosolized Surfactant for Respiratory Distress Syndrome in the Newborns [PDF]

open access: yes, 2013
BACKGROUND: Surfactant replacement therapy is a recognized treatment for respiratory distress syndrome (RDS) in the newborns. Over the past 30 years, human and animal trials have been performed regarding administration of aerosolized surfactant to the ...
Samsudin, D. D. (Dion)
core   +4 more sources

Pharmacokinetics of betamethasone in pre‐eclampsia: An in vivo and ex vivo study

open access: yesBritish Journal of Clinical Pharmacology, EarlyView.
Aims To enhance understanding of betamethasone and its metabolites' pharmacokinetics in pregnancy, specifically early‐onset pre‐eclampsia, through a population pharmacokinetic model. Additionally, to investigate the placental metabolism and transfer of betamethasone and its main metabolites.
Sam Schoenmakers   +15 more
wiley   +1 more source

The impact of Ureaplasma infections on pregnancy complications

open access: yesLibyan Journal of Medicine, 2020
The aim of this study was to assess if ureaplasmas are associated with pregnancy complications and diseases in newborns. Pregnant women with complaints and threatening signs of preterm delivery were included.
Daiva Bartkeviciene   +6 more
doaj   +1 more source

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