Screening for severe combined immunodeficiency (SCID) was added to the New Zealand national newborn screening programme in December 2017. Documentation pertaining to the application to add SCID to the panel and screening results over the first three years were reviewed. Screening evaluation metrics were shown to differ according to site of collection (babies in a neonatal intensive care unit vs. the community), definition of a positive test (out-of-range result vs. result leading to a further action on baby), and screening target/case definition (primary SCID vs. non-SCID T-cell lymphopenia). Our experience demonstrates both the value of close clinical involvement during the implementation phase of SCID screening and that the use of standard definitions will facilitate international comparison.
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http://dx.doi.org/10.3390/ijns8020033 | DOI Listing |
World J Orthop
December 2024
Department of Trauma and Orthopaedics, AOSP Terni, Terni 05100, Italy.
Developmental dysplasia of the hip (DDH) poses significant challenges in both childhood and adulthood, affecting up to 10 per 1000 live births in the United Kingdom and United States. While newborn screening aims to detect DDH early, missed diagnoses can lead to severe complications such as hip dysplasia and early onset osteoarthritis in adults. Treatment options range from less invasive procedures like hip-preserving surgery to more extensive interventions such as total hip arthroplasty (THA), depending on the severity of the condition.
View Article and Find Full Text PDFBr J Biomed Sci
January 2025
St. John's Dermatopathology Laboratory, Synnovis Analytics, St. Thomas' Hospital, London, United Kingdom.
Skin disorders pose a significant health burden globally, affecting millions of individuals across diverse demographics. Advancements in molecular techniques have revolutionised our understanding of the underlying mechanisms of skin disorders, offering insights into their pathogenesis, diagnosis, and potential targeted treatment. Furthermore, the integration of molecular diagnostics into clinical practice has enhanced the accuracy of skin disorder diagnoses.
View Article and Find Full Text PDFPLoS One
December 2024
Doctors for Madagascar, Antananarivo, Madagascar.
Background: Like other countries in sub-Saharan Africa, Madagascar has a high burden of maternal and neonatal mortality. However, as the proportion of foetal and placental abnormalities among the Malagasy population is unknown, strategies aimed at reducing maternal and neonatal mortality are challenging to define and implement.
Methods: We conducted a multi-year, cross-sectional study using secondary NGO data on obstetric ultrasound, including patient records of all pregnant women who received an obstetric ultrasound screening between July 1st, 2017, and September 30th, 2020, at 62 public-sector primary care facilities in urban and rural regions of Madagascar.
Cureus
November 2024
Department of Pediatric Orthopedics and Trauma, Al Jalila Children's Specialty Hospital, Dubai, ARE.
Background: The orthopedic department at Al Jalila Children's Specialty Hospital (AJCH) was opened in April 2018. A focused hip ultrasound training course was conducted in April 2019 to improve hip ultrasound imaging quality.
Objectives: This study aims to evaluate the impact of focused training courses on predefined image quality criteria of infant hip ultrasound in the context of developmental hip dysplasia.
MSMR
December 2024
Defense Centers for Public Health-Aberdeen, Armed Forces Health Surveillance Division, Defense Health Agency, U.S. Department of Defense, Aberdeen, MD.
This report presents the rates of maternal syphilis among pregnant women and congenital syphilis among newborns in the Military Health System (MHS) beneficiary population from 2012 to 2022. Medical encounter data from military hospitals and clinics as well as civilian health care facilities were obtained from the Defense Medical Surveillance System (DMSS) to determine pregnancies, live births, and confirmed diagnoses of maternal and congenital syphilis. The rate of maternal syphilis in female MHS beneficiaries increased by 233% between 2012 (n=123, 66.
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