Medicina
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Hearing loss is the most common sensory deficit in humans. The aim of this study was to clarify the genetic aetiology of nonsyndromic hearing loss in the Moravian-Silesian population of the Czech Republic. ⋯ We detected biallelic GJB2 mutations in 44 patients (22%). Among these patients, 63.6%, 9.1% and 2.3% exhibited homozygous c.35delG, p.Trp24*, and p.Met34Thr mutations, respectively. The remaining 25% of these patients exhibited compound heterozygous c.35delG, c.-23+1G>A, p.Trp24*, p.Val37Ile, p.Met34Thr, p.Leu90Pro, c.235delC, c.313_326del14, p.Ser139Asn, and p.Gly147Leu mutations. We found a monoallelic GJB2 mutation in 12 patients (6.6%). We found no pathogenic mutations in the other tested genes. Conclusions: One fifth of our cohort had deafness related to GJB2 mutations. The del(GJB6-D13S1830), SERPINB6, TMIE, COCH, ESPN, ACTG1, GJB3, and KCNQ4 mutations were infrequently associated with deafness in the Moravian-Silesian population. Therefore, we suggest that del(GJB6-D13S1830) testing should be performed only when patients with deafness carry the monoallelic GJB2 mutation.
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Introduction. The immunosuppression used after transplantation (Tx) is associated with an increased risk of opportunistic infections. In Europe, parasitic infections after Tx are much less common than viral, bacterial and fungal ones. ⋯ Solid organ and bone marrow transplantations, blood transfusions and immunosuppressive treatment are associated with a small but real risk of parasitic infections in European citizens. In patients with severe parasitic infection, i.e., those with lung or brain involvement or a disseminated disease, the progression is very rapid and the prognosis is bad. Establishing a diagnosis before the patient's death is challenging.
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Background: new minimally invasive sternotomy (mini-sternotomy) procedures have improved the treatment outcome and reduced the incidence of perioperative complications leading to improved patient satisfaction and a reduced cost of aortic valve replacement in comparison to the conventional median sternotomy (full sternotomy). The aim of this study is to compare and gain new insights into operative and early postoperative outcomes, long-term postoperative results, and 5-year survival rates after aortic valve replacement through a ministernotomy and full sternotomy. Methods: This is a retrospective study of patients who underwent an isolated replacement of the aortic valve via a full sternotomy or ministernotomy from 2011 to 2016. ⋯ Moreover, the number of patients without complaints at 1 year after the operation was significantly greater in the ministernotomy group (p = 0.002), and no significant differences in the 5-year survival between the groups were observed. In the overall cohort, the ministernotomy had longer cross clamp times (88.7 ± 20.7 vs. 79.9 ± 24.8 min, p < 0.001), longer operative times (263.5 ± 62.0 vs. 246.7 ± 74.2 min, p = 0.037) and bypass times (144.0 ± 29.9 vs. 132.7 ± 44.5 min, p = 0.026), lower incidence of 30-day mortality (1(1.4) vs. 13(3.7), p = 0.022), shorter hospital stays post-surgery p = 0.025, less 24-h chest tube drainage, p < 0.001, and fewer corrections of coagulopathy (p < 0.001). Conclusions: the ministernotomy has a number of advantages compared with the full sternotomy and thus could be a better approach for aortic valve replacement.
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Typhoid fever causes significant morbidity and mortality in developing countries, with inaccurate estimates in some countries affected, especially those situated in Sub-Saharan Africa. Disease burden assessment is limited by lack of a high degree of sensitivity and specificity by many current rapid diagnostic tests. Some of the new technologies, such as PCR and proteomics, may also be useful but are difficult for low-resource settings to apply as point-of-care diagnostics. ⋯ In addition, most typhoid-endemic countries employ serological tests that have low sensitivity and specificity making diagnosis unreliable. Here we review currently available typhoid fever diagnostics, and advances in serodiagnosis of S. Typhi.
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Objective: The number of patients presenting with warfarin-associated intracranial bleeding and needing neurosurgical intervention is growing. Prothrombin complex concentrate (PCC) is commonly used for anti-coagulation reversal before emergent surgery. We present our experience with PCC use in patients presenting with coagulopathy and needing urgent craniotomy. ⋯ Four (11%) patients developed subdural/epidural hematoma and 20 (57%) patients died. Mortality was associated with lower Glasgow coma scale (GCS) score. Conclusions: The 4-PCC facilitates INR reversal and surgery in patients presenting with warfarin-associated coagulopathy and intracranial bleeding requiring urgent neurosurgical intervention.