Articles: function.
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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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Lumbar spinal stenosis is a common orthopedic disease in clinical practice at present. Postoperative cognitive dysfunction (POCD) refers to the phenomenon of impaired memory. However, whether long noncoding RNA (LncRNA) GAS5 contributes to the mechanism of cognitive function in undergoing lumbar spinal canal decompression remains unknown. ⋯ MiR-137 suppressed TCF4 protein expression in vitro model. Transcription factor TCF4 activates the expression of bHLH. Taking together, this experiment provide the first experimental and clinical evidence that LncRNA GAS5/miR-137 promoted anesthesia-induced cognitive function to increase inflammatory bodies in patients undergoing lumbar spinal canal decompression, suggesting it may be a biomarker of POCD and a potential therapeutic target for POCD.
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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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The purpose of this narrative review is to give an overview about the effects of multimodal prehabilitation and current existing and prospectively planned studies. The potential efficacy of exercise in the context of prehabilitation ranges from preoperatively improving patients' functional capacity to inducing cellular mechanisms that affect organ perfusion via endothelial regeneration, anti-inflammatory processes and tumour defense. ⋯ The concept of prehabilitation contains the features, namely preoperative exercise, nutritional intervention and psychological support. Preoperative exercise holds potential molecular effects that can be utilized in the perioperative period in order to improve patients' postoperative outcome. Future multimodal prehabilitation trials must specifically clarify the clinical impact of this concept on patients' quality of life after major cancer surgery and cancer-specific survival.
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Chronic postsurgical pain (CPSP) is defined by pain intensity and pain-related functional interference. This study included measures of function in a composite score of patient-reported outcomes (PROs) to investigate the incidence of CPSP. Registry data were analyzed for PROs 1 day and 12 months postoperatively. ⋯ Opioid doses and PROs 24 hours postoperatively improved the fit of the regression model. A more comprehensive assessment of pain and interference resulted in lower CPSP rates than previously reported. Although inclusion of CPSP in the ICD-11 is a welcome step, evaluation of pain characteristics would be helpful in differentiation between CPSPF and continuation of pre-existing chronic pain.