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REVEAL-CP: Selective Screening of Pediatric Patients for Aromatic L-Amino Acid Decarboxylase Deficiency with a Guthrie Card and Structural Modeling of One Index Case.
Genet Test Mol Biomarkers
January 2025
PTC Therapeutics Germany GmbH, Frankfurt, Germany.
The main objective of this prospective, multicenter study (REVEAL-CP) was to test children with cerebral palsy-like signs and symptoms for raised 3--methyldopa (3-OMD) blood levels, a biomarker for aromatic L-amino acid decarboxylase deficiency (AADCd). A secondary objective was to characterize the molecular basis for the defective aromatic L-amino acid decarboxylase (AADC) gene product. Patients were identified in pediatric secondary and tertiary care hospitals through database searches and personal communication.
View Article and Find Full Text PDFTularemia in a Psoriasis Patient on Biologic Therapy After Relocation to Western South Dakota.
S D Med
December 2024
Department of Internal Medicine, University of South Dakota Sanford School of Medicine.
Background: Francisella tularensis is an aerobic, gram negative coccobacillus bacterium that causes tularemia. F. tularensis spreads primarily through ticks, biting flies, droplet inhalation, contaminated mud or water, or infected animal bites, and it can survive in animal carcasses with the most common mode of transmission occurring via inoculation into the skin and inhalation/ingestion.
View Article and Find Full Text PDFInterleukin-1β rs16944 and rs1143627 polymorphisms and risk of developing major depressive disorder: A case-control study among Bangladeshi population.
PLoS One
January 2025
Department of Pharmacy, University of Asia Pacific, Dhaka, Bangladesh.
Background: Epidemiological research suggests that altered levels of cytokine are associated with pathophysiology and the development of major depressive disorder (MDD). Based on earlier study, IL-1β rs16944 and rs1143627 polymorphisms may increase the risk of depression. Here, we aimed to evaluate the correlation between these polymorphisms and MDD susceptibility among the population in Bangladesh.
View Article and Find Full Text PDFHypopigmented mycosis fungoides: an important differential diagnosis of hypochromias in childhood.
Rev Paul Pediatr
January 2025
Universidade do Estado do Pará, Belém, PA, Brazil.
Objective: To highlight the importance of early recognition of hypopigmented mycosis fungoides (HMF) in cases of cutaneous hypochromia in children, with a view to an effective diagnostic and therapeutic approach.
Case Description: Two cases of HMF in children are reported. The first case involves an eight-year-old boy with hypochromic macules on the trunk and root of the upper and lower limbs, while the second case is a six-year-old boy with widespread hypochromic patches.
Although the comparison between two great Victorian masterminds, Sigmund Freud and Sherlock Holmes, and their respective methods, is in itself not new (see for example Ginzburg 1979, 1980; Brooks 1984; Marcus 1984; Shephard 1985; Spence 1987), it merits further investigation, as it raises important questions regarding the nature and structure of clinical evidence, clinical epistemology, and clinical narration. In this article, the author: refers both to the common cultural background of these two projects (including the of the modern world and the complicated dialog between rationality and imagination) and their common epistemological situation; analyses their and , and characterizes both Holmes and Freud as and . Their operandi are described as hermeneutical procedures, methodologically similar to Charles Sanders Peirce's .
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