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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Curr Opin Crit Care · Dec 2022
ReviewFluid balance in pediatric critically ill patients (with and without kidney dysfunction).
The issues of fluid balance and fluid overload are currently considered crucial aspects of pediatric critically ill patients' care. ⋯ Current evidence on fluid balance in critically ill children is mainly based on retrospective and observational studies, and intense research should be recommended in this important field. In theory, active decongestion of patients with fluid overload could improve mortality and other clinical outcomes, but randomized trials or advanced pragmatic studies are needed to better understand the optimal timing, patient characteristics, and tools to achieve this.
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Critical care medicine · Dec 2022
Multicenter Study Observational StudyFunctional Recovery Groups in Critically Ill COVID-19 Patients and Their Associated Factors: From ICU to Hospital Discharge.
To analyze functional recovery groups of critically ill COVID-19 survivors during their hospital stay and to identify the associated factors. ⋯ Age, hyperglycemia, and time for patient mobilization out of bed were independent factors associated with becoming physically dependent after their ICU stay. Recovery of physical function at hospital discharge was associated with muscle strength at ICU discharge and length of ICU stay.