Hippokratia
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Case Reports
Identification of a mutation in the MTM1 gene, associated with X-linked myotubular myopathy, in a Greek family.
X-linked myotubular myopathy (XLMTM) is a rare congenital myopathy, usually characterized by severe hypotonia and respiratory insufficiency at birth, in affected, male infants. The disease is causally associated with mutations in the MTM1 gene, coding for phosphatase myotubularin. We report a severe case of XLMTM with a novel mutation, at a donor splicing site (c.1467+1G) previously associated with severe phenotype. The mutation was also identified in the patient's mother, providing an opportunity for sound genetic counseling.
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Comprehensive geriatric assessment (CGA), as a complex diagnostic process, allows medical specialists to recognize the capabilities and limitations of the patient in older age. This study aimed to evaluate the prevalence and severity of deficits typical of seniors and find relationships between CGA results and selected factors. ⋯ Even though patients who attended general practices were functioning well in everyday life, after analysis, they manifested deficits in some areas of CGA. The most widespread problems in the geriatric population were depressive symptoms, frailty, and insomnia, and that is why GPs should ask about sleep and mood disorders during visits and assess the occurrence of frailty. HIPPOKRATIA 2020, 24(4): 173-181.
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We aimed to evaluate the long-term results of the patients who had positive cross-match (XM) test results and underwent living donor renal transplantation after desensitization with different combinations of intravenous immunoglobulin (IVIG), plasmapheresis (PP), and rituximab. ⋯ Our study showed that kidney transplantation could be performed by effective desensitization in XM test positive patients. It was also shown that donor-specific anti-HLA DQ Ab and non-HLA Ab determination might be useful in diagnosing patients with positive cross-test and/or diagnosis of AMR. HIPPOKRATIA 2020, 24(4): 182-190.
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Recent evidence suggests that additional analgesic regimens to periprostatic nerve block (PPNB) anesthesia provide substantial pain relief during transrectal ultrasound-guided prostate biopsy. In this regard, we investigated the efficacy and safety of tramadol alone or in combination with parecoxib as adjunct regimens to PPNB anesthesia. ⋯ Tramadol as an adjunct regimen to PPNB anesthesia is a safe and straightforward technique that provides a significant analgesic effect. The effectiveness is even higher when tramadol is combined with parecoxib. HIPPOKRATIA 2020, 24(4): 166-172.