Articles: disease.
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Case Reports
A rare presentation of Wilson disease with neurological symptoms: Case report and genetic analysis.
Wilson disease is a rare genetic disorder primarily associated with hepatic symptoms; however, its unique neurological presentation remains a subject of interest in the medical literature. This case report contributes to existing knowledge by highlighting the unusual manifestation of Wilson disease with significant neurological symptoms. ⋯ The main takeaway lessons from this case include the significance of a comprehensive diagnostic approach, personalized therapeutic interventions, and the imperative to acknowledge the diverse clinical spectrum of Wilson disease. Early recognition and tailored treatment contribute to favorable outcomes in cases with atypical neurological presentations.
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A posterior-only total en bloc spondylectomy (TES) of the L3 level was deemed a highly intricate surgical procedure, necessitating the preservation of the L3 nerve root to prevent neurological deterioration. Despite bilateral preservation efforts of the L3 nerve roots, neurological deterioration proved unavoidable. This study aims to present the clinical, neurologic, and oncologic outcomes of spinal metastasis patients who underwent a posterior-only approach TES, encompassing the L3 vertebra. ⋯ Posterior-only TES for L3-involved vertebrae yielded excellent results in the local control of metastatic disease. Despite hip flexor weakness, all patients were able to regain independent ambulation after 12 months. TES can offer favorable clinical and oncological outcomes in patients with solitary spinal metastases.
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Ovarian cancer presents a significant health challenge in sub-Saharan Africa (SSA), where late-stage diagnosis contributes to high mortality rates. This diagnostic gap arises from limited resources, poor healthcare infrastructure, and a lack of awareness about the disease. However, a potential game-changer is emerging in the form of liquid biopsy (LB), a minimally invasive diagnostic method. ⋯ This paper provides recommendations for future directions, emphasizing the need for research, infrastructure development, stakeholder engagement, and international collaboration. By recognizing the transformative potential of LB and addressing the diagnostic gap, we can pave the way for early detection, improved treatment, and better outcomes for ovarian cancer patients in SSA. This paper sheds light on a path toward better healthcare access and equity in the region.
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X-linked recessive chronic granulomatous disease (XR-CGD) is a severe primary immunodeficiency principally caused by a CYBB (OMIM: 300481) gene variant. Recurrent fatal bacterial or fungal infections are the main clinical manifestations of XR-CGD. ⋯ PGT-M is an effective method for helping families with these fatal and rare inherited diseases to have healthy offspring. It can availably block the transmission of disease-causing loci to descendant.
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This study aimed to determine the potential mechanisms through which long noncoding (Lnc) RNA cancer susceptibility candidate 15 (CASC15) affects hepatocellular carcinoma (HCC). We retrieved HCC RNA-seq and clinical information from the UCSC Xena database. The differential expression (DE) of CASC15 was detected. ⋯ Extraction of the HCC-specific CASC15-miRNA-mRNA network revealed that IGF1R, MET, and KRAS were associated with HCC progression and occurrence. Our bioinformatic findings confirmed that CASC15 is a promising prognostic biomarker for HCC, and elevated levels in HCC are associated with the tumor microenvironment. We also constructed a disease-specific CASC15-miRNA-mRNA regulatory ceRNA network that provides a new perspective for the precise indexing of patients with elevated levels of CASC15.