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C19orf12 gene variants causing mitochondrial membrane protein-associated neurodegeneration (MPAN).
Eur J Hum Genet
January 2025
Institute of Bioinformatics, International Technology Park, Bangalore, 560066, India.
Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a rare neurodegenerative disorder characterized by spastic paraplegia, parkinsonism and psychiatric and/or behavioral symptoms caused by variants in gene encoding chromosome-19 open reading frame-12 (C19orf12). We present here seven patients from six unrelated families with detailed clinical, radiological, and genetic investigations. Childhood-onset patients predominantly had a spastic ataxic phenotype with optic atrophy, while adult-onset patients were presented with cognitive, behavioral, and parkinsonian symptoms.
View Article and Find Full Text PDFRectal glands and tergal glands as sources of volatile pheromones in cucumber fruit fly, Zeugodacus Cucumis.
Sci Rep
January 2025
Applied BioSciences, Macquarie University, NSW, 2109, Sydney, Australia.
Male tephritid fruit flies typically emit pheromones from rectal glands to attract mates. Consistent with this, virgin females of the cucumber fruit fly, Zeugodacus cucumis (French), were found to be attracted to volatiles emitted by crushed male rectal glands in Y-tube olfactometer bioassays. Electrophysiological studies identified several male rectal gland compounds that triggered responses in female antennae.
View Article and Find Full Text PDFReal-world experience with nucleos(t)ide analogue therapy and patient survival rates in chronic viral hepatitis B treatment centers in Eritrea.
Sci Rep
January 2025
Division of National Control of Communicable Diseases, Ministry of Health, Asmara, Eritrea.
Real-world data on treatment outcomes or the quality of large-scale chronic hepatitis B (CHB) treatment programs in sub-Saharan Africa (SSA) is extremely difficult to obtain. In this study, we aimed to provide data on the prevalence and incidence of mortality, loss to follow-up (LFTU), and their associated factors in patients with CHB in three treatment centres in Eritrea. Additional information includes baseline clinical profiles of CHB patients initiated on nucleos(t)ide analogue (NUCs) along with a comparison of treatment with Tenofovir disoproxil fumarate (TDF) vs.
View Article and Find Full Text PDFAntithrombin III deficiency and idiopathic intracranial hypertension: a case report.
J Med Case Rep
January 2025
Headache Department, Iranian Center of Neurological Research, Neuroscience Institute, Tehran University of Medical Sciences, Tehran, Iran.
Background: Idiopathic intracranial hypertension (IIH) is a condition where the pressure of the cerebrospinal fluid in the brain increases without a known cause. It typically affects adults but can also occur in adolescents and children, although it is less common. Numerous elements, including coagulopathy, have been documented in previous cases as potential etiological factors of IIH.
View Article and Find Full Text PDFSIGLEC11 promotes M2 macrophage polarization through AKT-mTOR signaling and facilitates the progression of gastric cancer.
J Immunother Cancer
January 2025
Department of General Surgery, Shanghai Key Laboratory of Gastric Neoplasms, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China
Background: Sialic acid-binding immunoglobulin-like lectins (SIGLECs) are widely expressed on immune cell surfaces, play an important role in maintaining immune homeostasis and regulating inflammatory responses, and are increasingly emerging as potential targets for tumor immunotherapy. However, the expression profile and crucial role of SIGLEC11 in gastric cancer (GC) remain unclear. This study aimed to elucidate the prognostic relevance of SIGLEC11 expression and its role in the immune microenvironment in patients with GC.
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