The objective of the present study was to estimate the effectiveness of universal audiological screening of newborn infants in Russia based on the results of this procedure obtained in 2011-2012 by the analysis of the activities of surdological centres in 15 regions of the country. It was shown, that the main indicators of the effectiveness of the screening are the technical equipment of maternity houses, newborn coverage at the first stage of screening, and its continuity. The study revealed 3.14% of the infants who failed to be involved in the first stage of screening. Hearing impairment was diagnosed in two of each 1,000 newborn infants at the second stage of screening, the frequency of severe forms of hearing impairment was estimated as three cases per 10,000 infants. The disadvantages of the current system of identification of newborn infants suffering congenital loss of hearing are discussed. The importance of the improvement of data collection methods is emphasized.
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Genet Test Mol Biomarkers
January 2025
PTC Therapeutics Germany GmbH, Frankfurt, Germany.
The main objective of this prospective, multicenter study (REVEAL-CP) was to test children with cerebral palsy-like signs and symptoms for raised 3--methyldopa (3-OMD) blood levels, a biomarker for aromatic L-amino acid decarboxylase deficiency (AADCd). A secondary objective was to characterize the molecular basis for the defective aromatic L-amino acid decarboxylase (AADC) gene product. Patients were identified in pediatric secondary and tertiary care hospitals through database searches and personal communication.
View Article and Find Full Text PDFRev Paul Pediatr
January 2025
Universidade Federal de São Paulo, Escola Paulista de Medicina, São Paulo, SP, Brazil.
Objective: The aim of this study was to analyze if the healthcare organization of perinatal care and availability of referral neonatal intensive care units (NICU) impacted congenital diaphragmatic hernia (CDH) neonatal mortality in the period 2004-2020. This study analyzed the spatial distribution of neonatal deaths of live births with CDH in São Paulo State, Brazil, and its association with NICU beds' availability.
Methods: Population-based study of all live births in São Paulo State from mothers residing in the same State, from 2004 to 2020.
Rev Paul Pediatr
January 2025
Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, RS, Brazil.
Objective: 3p deletion syndrome is a rare monosomal disease that encompasses deletions throughout the short arm of chromosome 3. It is often in the distal region (3p25-pter), but variations in breakpoints and a complex clinical manifestation exist, with congenital heart defects being considered rare. We present the first case of hypoplastic left heart syndrome and minor dysmorphic features associated with 3p- syndrome.
View Article and Find Full Text PDFRev Paul Pediatr
January 2025
Universidade Federal de Alfenas - Alfenas (MG), Brazil.
Objective: To analyze the effect of the thoracoabdominal rebalancing (TAR) method on respiratory biomechanics, respiratory discomfort, pain sensation, and physiological parameters in moderate preterm newborns, compared to a control group.
Methods: This randomized clinical trial was conducted in a neonatal intensive care unit. The evaluation included: Neonatal Infant Pain Scale, physiological parameters, Silverman-Andersen score, and biomechanics (thoracic cirtometry and Charpy angle).
Rev Paul Pediatr
January 2025
Universidade Federal de Goiás, Institute of Tropical Pathology and Public Health, Parasite-Host Relationship Studies Laboratory, Goiânia, GO, Brazil.
Objective: To describe two severe cases of congenital toxoplasmosis in infants born to chronically infected mothers who did not receive education or information on the prevention of gestational toxoplasmosis during prenatal care.
Case Description: The mothers had a previous serological diagnosis of toxoplasmosis conducted during prenatal care, with non-reactive (<10 IU/mL) IgM and reactive IgG (>10 IU/mL), and were considered "immune" to the infection. Both infants were born with sequelae of the congenital infection, including neurological and ocular alterations.
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