Congenital generalized terminal hypertrichosis is a rare disease, especially when associated with gingival hyperplasia. Congenital hypertrichosis can be a clinical feature of several syndromes, so these patients must be studied by a multidisciplinary team that should include a dermatologist, geneticist, psychologist, odontologist, and an endocrinologist. We report a 7-year-old girl with congenital generalized hypertrichosis and gingival hyperplasia, and analyze the clinical approach, differential diagnosis, and treatment.
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http://dx.doi.org/10.1046/j.1525-1470.2002.00055.x | DOI Listing |
Int J Mol Sci
January 2025
Department of Neurology, Centro Hospitalar Universitário de Santo António, Unidade Local de Saúde de Santo António, 4099-001 Porto, Portugal.
Chromosomal aberrations are rare but known causes of movement disorders, presenting with broad phenotypes in which dystonia may be predominant. During the investigation of such cases, chromosomal studies are not often considered as a first approach. In this article, the authors describe a family affected by a generalized form of dystonia, evolving from a focal phenotype, for which a new X chromosome large duplication was found to be the likely causative, therefore highlighting the role of such studies when facing complex movement disorders.
View Article and Find Full Text PDFChildren (Basel)
December 2024
Division of Neonatology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
L-citrulline (L-CIT), a precursor to L-arginine (L-ARG), is a key contributor to the nitric oxide (NO) signaling pathway. Endothelial dysfunction, characterized by deficient nitric oxide synthesis, is implicated in the pathogenesis of various neonatal conditions such as necrotizing enterocolitis (NEC) and bronchopulmonary dysplasia (BPD) associated pulmonary hypertension (PH). This review summarizes the current evidence around the possible role of L-CIT supplementation in the treatment of these conditions.
View Article and Find Full Text PDFNat Commun
January 2025
The Picower Institute for Learning and Memory, MIT, Cambridge, MA, USA.
Many essential proteins require pyridoxal 5'-phosphate, the active form of vitamin B6, as a cofactor for their activity. These include enzymes important for amino acid metabolism, one-carbon metabolism, polyamine synthesis, erythropoiesis, and neurotransmitter metabolism. A third of all mammalian pyridoxal 5'-phosphate-dependent enzymes are localized in the mitochondria; however, the molecular machinery involved in the regulation of mitochondrial pyridoxal 5'-phosphate levels in mammals remains unknown.
View Article and Find Full Text PDFAm J Surg
January 2025
David Geffen School of Medicine, University of California, Los Angeles, CA, USA. Electronic address:
Necrotizing enterocolitis (NEC) is a devastating illness with mortality rates approaching 26 %, with 4 % of patients with congenital heart disease (CHD) receiving this diagnosis. In this retrospective cohort study, the Pediatric Health Information System database was used to compare outcomes among patients with NEC diagnoses between 2019 and 2021 by CHD. The association of clinical factors with the outcomes of interest were compared using multivariable logistic regression.
View Article and Find Full Text PDFEchocardiography
January 2025
Radiology Department, Liverpool Heart and Chest Hospital NHS Foundation Trust, Liverpool, UK.
Optimal management of adult congenital heart disease (ACHD) requires a multidisciplinary team (MDT) approach, fostering a collaborative culture over an individualistic approach. Within this framework, subspecialty-trained radiologists provide crucial imaging expertise, supporting cardiologists, surgeons, and interventional cardiologists in diagnoses, treatment planning, and follow-up evaluations. Advanced imaging tools and a nuanced understanding of surgical and interventional procedures enable radiologists to provide valuable insights to clinicians.
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