The process of testing newborn infants for hormonal, genetic, metabolic, and other disorders is known as newborn screening (NSB). Newborn screening is essential for detecting, diagnosing, and treating disorders that could save serious consequences for a newborn's health. Congenital Hypothyroidism (CH), Cystic Fibrosis (CF), Glucose-6-phosphate dehydrogenase (G6PD) deficiency, and Profound Biotinidase deficiency (BD) are common disorders in India. A retrospective analysis of the results of NBS by Cord blood spots was performed at the department of Obstetrics and Gynecology, 7 Airforce Hospital, Kanpur, Uttar Pradesh, from June 2022 to September 2022. During this period, 26 newborns were screened for four disorders, including CH, CF, G6PD deficiency, and BD. In this investigation, no cases of CH, CF, G6PD deficiency, or BD were found to be positive. The results of the current data provide a distinct opportunity to investigate the birth prevalence of inborn metabolic disorders in the area close to the city of Kanpur.
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http://dx.doi.org/10.6026/973206300181122 | DOI Listing |
BMJ Glob Health
December 2024
Muso, Bamako, Mali; San Francisco, USA.
Introduction: Despite recommendations from the WHO, antenatal care (ANC) coverage remains low in many low-income and middle-income countries (LMICs). Community health workers (CHWs) can play an important role in expanding ANC coverage through pregnancy identification, provision of health education, screening for complications, delivery of therapeutic care and referral to higher levels of care. However, despite the success of CHW programmes in various countries, WHO has called for additional research to develop evidence-based models that optimise CHW service delivery and that can be replicated across geographies.
View Article and Find Full Text PDFArch Dis Child Fetal Neonatal Ed
December 2024
Nuffield Department of Population Health, University of Oxford National Perinatal Epidemiology Unit, Oxford, UK.
Objective: Babies born between 27 and 31 weeks of gestation contribute substantially towards infant mortality and morbidity. In England, their care is delivered in maternity services colocated with highly specialised neonatal intensive care units (NICU) or less specialised local neonatal units (LNU). We investigated whether birth setting offered survival and/or morbidity advantages to inform National Health Service delivery.
View Article and Find Full Text PDFMol Genet Metab
December 2024
Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora, CO, USA. Electronic address:
Background: Pyridoxine-dependent epilepsy (PDE-ALDH7A1) is a developmental epileptic encephalopathy historically characterized by seizures that are resistant to antiseizure medications. Treatment with pyridoxine and lysine reduction therapies are associated with seizure control and improved developmental outcomes. In rare circumstances, patients have died prior to diagnosis and treatment with pyridoxine, and many patients are diagnosed after six months of age when lysine reduction therapies have limited efficacy.
View Article and Find Full Text PDFVestn Otorinolaringol
December 2024
Mendeleev Russian University of Chemical Technology, Moscow, Russia.
A group of Russian specialists dealing with the problems of auditory function in premature babies touches upon important issues of early detection of hearing loss and deafness in this contingent of children born before the date of physiological birth. The purpose of the article was to argue the need for a personalized approach to the diagnosis of auditory function in premature and full-term babies depending on the timing of gestation and their somatic state at the time of birth, as well as the comprehensive rehabilitation of children with hearing loss and deafness. The article describes the advantages of the previously developed computer program Multiplicity of audiological monitoring in children of the first year of life with risk factors for hearing loss and deafness.
View Article and Find Full Text PDFTrop Med Infect Dis
November 2024
School of Health Systems & Public Health, University of Pretoria, Pretoria 0028, South Africa.
Sickle cell disease (SCD) is a prevalent inherited blood disorder, particularly affecting populations in Africa. This review examined the disease's burden, its diverse clinical presentations, and the challenges associated with its management in African settings. Africa bears a significant burden of SCD, with prevalence varying across countries and age groups.
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