Articles: function.
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Case Reports
Clinical characteristics and follow-up of a newborn with Dubin-Johnson Syndrome: A clinical case report.
Dubin-Johnson syndrome (DJS) is a rare autosomal recessive liver disorder, characterized by conjugated hyperbilirubinemia. This case report investigates the clinical characteristics and longitudinal outcomes of a neonate diagnosed with DJS. ⋯ This case report enhances the understanding of DJS in neonates by emphasizing the clinical ramifications of compound heterozygous mutations within the ABCC2 gene and documenting the evolution of the disease. The gradual normalization of liver function tests suggests potential compensatory mechanisms in response to the genetic abnormalities in neonates with DJS. The correlation between the patient's genetic profile of compound heterozygosity and her milder clinical phenotype warrants attention, suggesting that this specific genetic configuration may be associated with less severe manifestations of the disease. The necessity for long-term follow-up is highlighted, recognizing that intercurrent stress conditions could influence the hepatic profile and potentially exacerbate symptoms. Such sustained observation is crucial to further delineate the genomic and clinical landscape of DJS, offering opportunities to refine prognostic and therapeutic approaches.
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We aimed to determine the association between changes in bone mineral density (BMD) of the lumbar spine, bilateral femoral necks and clinical parameters in ambulatory older adult patients with stroke who were diagnosed with osteopenia. This retrospective study included ambulatory patients older than 65 years diagnosed with stroke between January 2019 and June 2021. Osteopenia was diagnosed within 1 month after stroke diagnosis. ⋯ Patients with modified Barthel index of less than 82 had significant bone loss only on the paretic side of the femoral neck. The BMD of the paretic side of the femoral neck was significantly decreased regardless of the strength of the hip and knee extensors. Although older adult patients with stroke and osteopenia can walk independently, more active osteoporosis treatment is needed to prevent bone loss and fractures, including improvement in daily living function and bilateral lower extremity strength training.
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Case Reports
Hepatocellular carcinoma combined with sarcomatoid hepatocellular carcinoma: A case report.
Sarcomatoid hepatocellular carcinoma (SHC) is an uncommon variant of hepatocellular carcinoma (HCC), characterized by HCC features combined with sarcomatoid histology and manifestations. The simultaneous occurrence of HCC and hepatosarcomatoid carcinoma is infrequent. This report presents a distinctive instance of HCC coexisting with hepatic sarcomatoid carcinoma in a 56-year-old male. The case exhibits an unusual clinical presentation, diagnosis, treatment, and prognosis. Through the presentation of this case, we aspire to contribute novel concepts to shape forthcoming strategies encompassing SHC diagnosis and treatment. ⋯ The presence of distinct tumor types concurrently can influence treatment choices and prognosis. Given the intricate nature of this condition, crafting an optimal treatment strategy necessitates the incorporation of variables such as the patient age, tumor characteristics, liver function, and other pertinent factors.
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Pyroptosis plays a key role in the death of cells including cardiomyocytes, and it is associated with a variety of cardiovascular diseases. However, the role of pyroptosis-related genes (PRGs) in hypertrophic cardiomyopathy (HCM) is not well characterized. This study aimed to identify key biomarkers and explore the molecular mechanisms underlying the functions of the PRGs in HCM. ⋯ Moreover, we also elucidated the interaction network of these biomarkers with the miRNA network and known compounds, respectively. RT-PCR/WB results indicated that PTPN11 expression was significantly increased, and IRAK3 and ANXA2 expressions were significantly decreased in HCM. This study identified PTPN11, IRAK3, and ANXA2 as pyroptosis-associated biomarkers of HCM, with the potential to reveal the development and pathogenesis of HCM and could be potential therapeutic targets.