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Clinical, laboratory, and molecular characteristics of patients with spondyloenchondrodysplasia: a case series study.
Eur J Pediatr
January 2025
Pediatric Hematology and Oncology, Liv Hospital, Gaziantep, Turkey.
Unlabelled: Spondyloenchondrodysplasia (SPENCD) is a rare genetic disorder characterized with skeletal dysplasia, immune dysregulation, and neurological impairment. Patients diagnosed with SPENCD at a single pediatric hematology center were included in the study. The patients' clinical characteristics, symptoms at presentation, imaging and laboratory results, and genetic analysis results were collected retrospectively from their files.
View Article and Find Full Text PDFNewborn screening and the screening laboratory: past, present and future.
Eur Thyroid J
January 2025
A Heijboer, Department of Laboratory Medicine, Endocrine Laboratory, Amsterdam, 1105AZ, Netherlands.
Thyroid hormone (TH) is essential for brain development in utero and during the first two to three years of life. The negative effects of TH deficiency on brain development are irreversible. Early detection of TH deficiency in neonates (congenital hypothyroidism (CH) through newborn screening (NBS)) allows for early treatment, thereby preventing brain damage.
View Article and Find Full Text PDFCabergoline Induced Pathological Gambling in an Adolescent with Prolactinoma.
J Clin Res Pediatr Endocrinol
January 2025
Department of Pediatric Endocrinology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Türkiye.
Prolactinomas are the most common hormone-secreting pituitary adenomas in adolescents. Dopamine agonists (DA) are used as first-line medical treatment. DAs are associated with an array of physical side effects; however, impulse control disorders (ICDs), such as pathological gambling (PG), have also been reported in adults.
View Article and Find Full Text PDFGuillain Barré Syndrome Mimicking Brain Death: A Case Report.
Cureus
December 2024
Neurocritical Care, Caritas Hospital and Institute of Health Sciences, Kottayam, IND.
Here, we present a case of Guillain-Barré syndrome (GBS) that mimicked brain death. A 66-year-old lady with a medical history of breast cancer (now receiving hormone therapy), hypertension, and hypothyroidism, presented to the emergency department. The patient was admitted to the neuro ICU with absent brainstem and spinal cord responses, concerning for possible brain death.
View Article and Find Full Text PDFParent Reports of Developmental Service Utilization After Newborn Screening.
Int J Neonatal Screen
December 2024
RTI International, 3040 E. Cornwallis Road, Research Triangle Park, P.O. Box 12194, Research Triangle Park, NC 27709, USA.
Newborn screening (NBS) presents an opportunity to identify a subset of babies at birth who are at risk for developmental delays and could benefit from a range of developmental services. Potential developmental services in the United States include Part C Early Intervention (EI), private therapies, and school-based services. Using parent-reported outcomes, this study examined the rates at which a sample of children diagnosed with NBS conditions used each developmental service.
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