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Challenges in managing osteogenesis imperfecta in a resource-limited setting: a case report.
J Med Case Rep
January 2025
Lacor Hospital-Gulu, Gulu, Uganda.
Introduction: Osteogenesis imperfecta is a rare inherited connective tissue disorder that results in excessive bone fragility due to defects in collagen production. The majority of osteogenesis imperfecta cases are inherited in an autosomal dominant pattern, and 17 genetic causes have been identified. Diagnosis is usually based on clinical presentation and low bone mineral density scores, while treatment involves a multidisciplinary approach using medical therapies such as bisphosphonates, vitamin C, and pamidronate.
View Article and Find Full Text PDFA rare case of central precocious puberty in a male infant with adrenal hypoplasia congenita.
J Pediatr Endocrinol Metab
December 2024
Department of Pediatric Endocrinology, Stony Brook Children's Hospital, Stony Brook, NY, USA.
Article Synopsis
- - The study discusses a case of a male infant diagnosed with Adrenal Hypoplasia Congenita (AHC) due to a new genetic mutation, who exhibited signs of central precocious puberty (CPP) at 9 months old.
- - The patient initially presented with severe symptoms including hypothermia, weight loss, and was treated in the Pediatric Intensive Care Unit for adrenal crisis, leading to a confirmed diagnosis of AHC through genetic testing that revealed a specific mutation.
- - The conclusion highlights the rarity of CPP in AHC cases, suggesting that increased awareness among clinicians could enhance early detection and management of this puberty-related complication in affected infants.
Case report: Dichloroacetate-induced methaemoglobinaemia in a G6PD-deficient neonate.
Pediatr Blood Cancer
January 2025
Khoo Teck Puat-National University Children's Medical Institute, National University Health System, Singapore, Singapore.
A 3-week-old neonate with glucose-6-phosphate dehydrogenase (G6PD) deficiency and primary lactic acidosis developed haemolytic jaundice and methaemoglobinaemia following treatment with dichloroacetate (DCA), a standard treatment for primary lactic acidosis. While this mechanism has been reported in the sheep model, it has not been described in humans. Our case reinforces the uncommon observation that a G6PD-deficient individual experiencing oxidative stress may develop concurrent methaemoglobinaemia.
View Article and Find Full Text PDFUmbilical Discharge in a 3-week-old Boy.
Pediatr Rev
October 2024
Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
Clinicopathologic Correlation and Routine Immunostains Help Distinguish Congenital Disseminated Pyogenic Granuloma From Other Cutaneous Disseminated Vascular Proliferations of Infancy: Case Report and Literature Review.
Am J Dermatopathol
December 2024
Dartmouth-Hitchcock Medical Center, Department of Pathology and Laboratory Medicine, Lebanon , NH.
Article Synopsis
- - The presence of multiple skin lesions in infants may indicate underlying health issues, requiring dermatopathologists to differentiate between conditions that have different treatment outcomes.
- - The article focuses on three rare conditions: congenital disseminated pyogenic granuloma, multifocal infantile hemangioma, and multifocal lymphangioendotheliomatosis with thrombocytopenia, highlighting how to distinguish them using histopathology and immunohistochemistry.
- - A case study is presented about an infant with congenital disseminated pyogenic granuloma affecting both skin and liver, showing that the lesions can resolve naturally over time without treatment, which underscores the importance of diagnosis and monitoring.
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