Articles: disease.
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The prognosis of patients with Ewing's sarcoma family of tumors (ESFT) relapse is poor; the 5-year overall survival (OS) is 13%. We evaluated the effectivity of high-dose therapy (HDT) with autologous stem cell transplantation (ASCT) in adult patients with ESFT relapse. Between January 2010 and January 2021, we retrospectively analyzed 20 patients with ESFT who received HDT upon relapse. ⋯ In univariate analyses, a disease-free interval (DFI) of < 2 years (P = .008) and incomplete response (P = .021) before ASCT were poor prognostic factors for OS2. HDT with ASCT can result in long-term survival of patients with ESFT relapse. HDT should be considered an important treatment opt ion in patients with a DFI > 2 years and complete response before transplantation.
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Whipple's disease is a rare multiorgan systemic disease caused by Tropheryma whipplei infection that may present with a wide range of signs and symptoms. This study aim to comprehensively review and determine the inpatient prevalence, mortality, risk factors, and reasons for hospitalization of patients with Whipple's disease. ICD-10 codes were used to identify admissions with Whipple's disease during the years 2016 to 2018. ⋯ Whipple's disease has heterogeneous presentations for inpatient admissions, and disproportionately affects older males. High hospitalization rates in the Midwest support environmental and occupational disease transmission likely from the soil. Hospitalists should be aware of the various acute, subacute, and chronic presentations of this disease, and that acute presentations may be more common in the inpatient setting.
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Hypertension is a multifactorial disease that partially caused by genetic factors, including variation in genes related to lipid metabolism. ACAT1 gene is implicated in lipid metabolism for its encoding product, the enzyme acetyl-CoA acetyltransferase 1, catalyzing the synthesis of cholesteryl ester from cholesterol and playing an important role in the metabolism of cholesterol. Until now, there's little study on the relationship between ACAT1 variants and hypertension. ⋯ AC/CC genotypes of rs1044925 were associated with an increased risk of hypertension (AC/CC vs AA: adjusted odds ratio = 1.723, 95% confidence interval = 1.160-2.559, P = .007). However, the AC/CC genotypes showed no relationship with serum lipid levels. The results suggest that the C carriers of ACAT1 rs1044925 might increase the risk of hypertension in Tongdao Dong population, and the underlying mechanism needs to be further studied.
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Head and neck squamous cell carcinoma (HNSCC) is one of the most common malignancies worldwide, because its discovery time is in the late stage of the disease, so it is important to develop HNSCC biomarkers to achieve the purpose of early detection and treatment. Fatty acid desaturase 3 (FADS3), the third member of the FADS family, is involved in sphingolipid biosynthesis. Here, we for the first time investigated FADS3 expression in HNSCC, as well as its potential biological function, prognostic value and its impact on the immune system. ⋯ Gene set enrichment analysis (GSEA) revealed that FADS3 is related to inhibition of amino acid metabolism. CIBERSORT analysis showed high FADS3 expression correlates with reduced levels of B cells. FADS3 is a marker of HNSCC, and high expression of FADS3 is associated with poor prognosis of HNSCC.
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Patients with early-onset lysosomal storage diseases are ideal candidates for prenatal therapy because organ damage starts in utero. We report the safety and efficacy results of in utero enzyme-replacement therapy (ERT) in a fetus with CRIM (cross-reactive immunologic material)-negative infantile-onset Pompe's disease. The family history was positive for infantile-onset Pompe's disease with cardiomyopathy in two previously affected deceased siblings. After receiving in utero ERT and standard postnatal therapy, the current patient had normal cardiac and age-appropriate motor function postnatally, was meeting developmental milestones, had normal biomarker levels, and was feeding and growing well at 13 months of age.