Articles: function.
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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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Observational Study
Fertility problems in men carrying a translocation involved in breakpoints on chromosome 17p13: A retrospective, observational study.
Male infertility is a multifactorial reproductive disorder. The effect of genetic factors on male infertility has been the focus of research. Although a variety of genetic techniques are applied to male infertility in clinical practice, karyotype analysis remains a powerful and inexpensive technology. ⋯ These results suggested that the translocation chromosome and breakpoint analysis should be considered in the clinical assessment of the patients. Physicians should be aware of these in genetic counseling. These breakpoints and the function of related genes require further study.
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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.
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Journal of women's health · Dec 2022
Lumbopelvic Pain in Pregnancy in a Diverse Urban Patient Population: Prevalence and Risk Factors.
Objective: Pregnancy lumbopelvic pain (PLPP) is a common ailment during pregnancy with physical, psychosocial, and economic consequences. Prior literature has focused on majority Caucasian patient populations; none have focused on Hispanic populations, especially in the United States. The purpose of this study was to determine the proportion of pregnant people who experience PLPP in mostly Hispanic population. ⋯ Conclusions: In a cohort of majority Hispanic people, we found that 63% of respondents had PLPP. Our study found that a higher PMI score and financial instability were factors influencing PLPP. Clinicians should be alert to pregnant people who express their difficulties with activities of daily living as they may be at risk of PLPP, and could benefit from further evaluation and treatment.
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Type 1 diabetes is a disease resulting from autoimmune destruction of the insulin-producing beta cells in the pancreas. When type 1 diabetes develops into severe secondary complications, in particular end-stage nephropathy, or life-threatening severe hypoglycemia, the best therapeutic approach is pancreas transplantation, or more recently transplantation of the pancreatic islets of Langerhans. Islet transplantation is a cell therapy procedure, that is minimally invasive and has a low morbidity, but does not display the same rate of functional success as the more invasive pancreas transplantation because of suboptimal engraftment and survival. ⋯ A successful bioartificial pancreas would address the issues of engraftment, survival and rejection. Inclusion of unlimited sources of insulin-producing cells, such as xenogeneic porcine islets or stem cell-derived beta cells would further solve the problem of organ shortage. This article reviews the current status of clinical islet transplantation, the strategies aiming at developing a bioartificial pancreas, the clinical trials conducted in the field and the perspectives for further progress.