Hereditary hemorrhagic telangiectasia (HHT) is a disorder characterized by telangiectasias and arteriovenous malformations. We present a case report of a 74-year-old man diagnosed with HHT having a favorable response to a somatostatin analogue for treatment. This patient had been suffering from chronic anemia from recurrent gastrointestinal bleeding, requiring oral/intravenous iron replacement, frequent endoscopic ablations, and blood transfusions. Due to insufficient treatment, he was started on subcutaneous octreotide, with significant improvement as evidenced by a steady increase in the hemoglobin level, decreased endoscopic interventions, and decreased blood transfusions, making this the first case of HHT successfully treated with octreotide.
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http://dx.doi.org/10.14309/crj.0000000000000088 | DOI Listing |
Clin Neurol Neurosurg
January 2025
Department of Neurosurgery, Johns Hopkins University School of Medicine, MD, USA. Electronic address:
Objective: Cerebrovascular diseases are often associated with the development of depression, but few studies have assessed this association with brain arteriovenous malformations (bAVMs). We aim to explore the association of brain arteriovenous malformation(bAVM) with new onset depression at follow-up.
Methods: We performed a retrospective cohort study on adult bAVMs patients using an institutional bAVM database.
Int J Mol Sci
January 2025
Institute for Biomedical Research and Innovation (IRIB), National Research Council (CNR), 90146 Palermo, Italy.
Anderson-Fabry disease is a hereditary, progressive, multisystemic lysosomal storage disorder caused by a functional deficiency of the enzyme α-galactosidase A (α-GalA). This defect is due to mutations in the gene, located in the long arm of the X chromosome (Xq21-22). Functional deficiency of the α-GalA enzyme leads to reduced degradation and accumulation of its substrates, predominantly globotriaosylceramide (Gb3), which accumulate in the lysosomes of numerous cell types, giving rise to the symptomatology.
View Article and Find Full Text PDFGenes (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 PDFBiomolecules
January 2025
Department of Neurology, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, 40225 Düsseldorf, Germany.
Proteomics accelerates diagnosis and research of muscular diseases by enabling the robust analysis of proteins relevant for the manifestation of neuromuscular diseases in the following aspects: (i) evaluation of the effect of genetic variants on the corresponding protein, (ii) prediction of the underlying genetic defect based on the proteomic signature of muscle biopsies, (iii) analysis of pathophysiologies underlying different entities of muscular diseases, key for the definition of new intervention concepts, and (iv) patient stratification according to biochemical fingerprints as well as (v) monitoring the success of therapeutic interventions. This review presents-also through exemplary case studies-the various advantages of mass proteomics in the investigation of genetic muscle diseases, discusses technical limitations, and provides an outlook on possible future application concepts. Hence, proteomics is an excellent large-scale analytical tool for the diagnostic workup of (hereditary) muscle diseases and warrants systematic profiling of underlying pathophysiological processes.
View Article and Find Full Text PDFAntioxidants (Basel)
December 2024
Laboratorio de Hematobiología, Escuela Nacional de Medicina y Homeopatía, Instituto Politécnico Nacional, Mexico City 07700, Mexico.
Oxidative stress is widely recognized as a key mechanism in the development of hypertension. Under pathological conditions, such as in hypertension, oxidative stress leads to irreversible posttranslational modifications of proteins, which result in loss of protein function and cellular damage. We have previously documented physiological and morphological changes across various blood and bone marrow cell lineages, all of which exhibit elevated oxidative stress.
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