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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Dense deposit disease (DDD), a subtype of complement factor 3 glomerulopathy (C3G), is a rare entity associated with dysregulation of the alternative complement pathway. It usually affects children, with a 50% likelihood of progression to end-stage renal disease within ten years of diagnosis. Description of the case: We report the case of an adolescent male with acute nephritic syndrome and nephrotic range proteinuria, initially diagnosed as acute post-streptococcal glomerulonephritis (APSGN). Despite his spontaneous improvement, renal biopsy, performed due to a persistently low C3 level for over 18 weeks, confirmed the diagnosis of DDD. Complement and genetic studies showed high levels of C3-nephritic factor and risk polymorphisms for developing the disease. He was treated with prednisolone and mycophenolate mofetil (MMF). At the last follow-up, 15 months from onset, the serum creatinine level and 24h-hour total protein excretion were normal. ⋯ C3G (including the DDD subtype) should be suspected in apparent APSGN with atypical clinical features at presentation/follow-up, even in the case of spontaneous improvement. Timely and accurate diagnosis, based on histopathological, complement, and genetic studies, is important to initiate the appropriate treatment aimed at preventing or slowing the disease progression. HIPPOKRATIA 2020, 24(4): 191-193.
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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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In the setting of the oral-gut-liver axis, microbiome dysbiosis has been associated with decompensated cirrhosis progression. However, little is known on salivary microbiome profiles in stable decompensated patients. ⋯ Patients with stable decompensated cirrhosis of various etiology and history of complications have decreased diversity of their salivary microbiome. PCoA and Boruta algorithm may represent useful tools to discriminate the salivary microbiome in patients with decompensation. Further studies are needed to establish the utility of salivary microbiome analysis, which is easier obtained than fecal, in decompensated cirrhosis. HIPPOKRATIA 2020, 24(4): 157-165.