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Atypical Leber Hereditary Optic Neuropathy (LHON) Associated with a Novel MT-CYB:m.15309T>C(Ile188Thr) Variant.
Genes (Basel)
January 2025
Eye Hospital, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia.
The study presents a detailed examination and follow-up of a Slovenian patient with an Leber Hereditary Optic Neuropathy (LHON)-like phenotype and bilateral optic neuropathy in whom genetic analysis identified a novel variant :m.15309T>C (Ile188Thr). We provide detailed analysis of the clinical examinations of a male patient with bilateral optic neuropathy from the acute stage to 8 years of follow-up.
View Article and Find Full Text PDFThe Prevalence of Peripheral Erythrophagocytosis in Pediatric Immune-Mediated Hemolytic Anemia.
Hematol Rep
January 2025
Children's Haematology and Cancer Centre, Mount Elizabeth Hospital, Singapore 228510, Singapore.
Background: Peripheral erythrophagocytosis appears to be a unique sign of acquired immune-mediated hemolytic anemia. It is said to be rare but its prevalence among patients with autoimmune hemolytic anemia has not been studied.
Methods: In this retrospective study from July 2014 to June 2024, the clinical and laboratory features, treatment and outcomes of children diagnosed with autoimmune hemolytic anemia were described.
Indirect treatment comparison of lanadelumab and a C1-esterase inhibitor in pediatric patients with hereditary angioedema.
J Comp Eff Res
February 2025
ICON plc, Insights, Evidence & Value - Health Economics & Epidemiology, Langen, Germany.
To compare the efficacy and safety of lanadelumab versus other approved long-term prophylaxis (LTP) treatments in patients with pediatric hereditary angioedema (HAE) aged <12 years. A systematic literature review was conducted to identify studies of LTP in patients with HAE aged <12 years. Two studies met the inclusion criteria in an indirect treatment comparison of efficacy and safety data in pediatric HAE patients.
View Article and Find Full Text PDFHemoglobinopathies Among Patients Referred to Single Centre in Central India: An Observational Study.
Indian J Clin Biochem
January 2025
ICMR-National Institute of Research in Tribal Health, Jabalpur, 482003 India.
Sickle cell disease (SCD) and thalassemia are the most common hereditary disorders encountered in Central India. Timely identification of these disorders is critical to reduction in severe clinical manifestations and for identifying disease burden. Present study reports spectrum of hemoglobinopathies among the referred anemia patients to single centre in central India.
View Article and Find Full Text PDFProfessional improbity: How Hermann J. Muller's ethics affected his science.
J Occup Environ Hyg
January 2025
Finance Department, University of Texas at Austin, Austin, Texas.
The present paper provides an assessment of how the scientific and national policy achievements/goals of Hermann J. Muller were impacted by his ethics and provides several documented episodes in which Muller acted unethically to promote his personal gain-at the expense of others-within the scientific community. Muller manipulated the scientific community in self-serving ways to suppress perspectives that challenged his own views on radiation-induced gene mutation, and hereditary and cancer risk assessment in ways that influenced his significant awards (e.
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