Transition from Leigh syndrome to MELAS syndrome in a patient with heteroplasmic MT-ND3 m.10158T>C

An m.10158T>C mutation in MT-ND3, encoding a subunit of respiratory complex I, causes early-onset Leigh syndrome (LS), mitochondrial encephalomyopathy with lactic acid and stroke-like episodes (MELAS) syndrome, and LS and MELAS overlapping syndrome, presumably dependent on the ratio of heteroplasmy. Herein, we report a 4-year-old girl with heteroplasmic m.10158T>C mutation, showing an evolving age-dependent phenotype from LS to MELAS syndromes. She showed mild developmental delay during infancy, which was associated with magnetic resonance imaging lesions in the brain stem and basal ganglia. At the age of 4 years, she developed rapid neurological deterioration and intractable seizures, which was associated with recurrent multiple cerebral lesions as well as basal ganglia lesions. Her cerebral lesions were located predominantly in white matter and appeared at multiple areas simultaneously, unique characteristics that are distinct from typical MELAS. Two patients with LS-MELAS overlapping syndrome with m.10158T>C have been previously reported, however, this is the first patient with m.10158T>C showing significant age-dependent changes in clinical features and neuro-images, implying an age-dependent role of complex I in the developing brain.     

Seven Hormonal Biomarkers for Diagnosing Endometriosis: Meta-Analysis and Adjusted Indirect Comparison of Diagnostic Test Accuracy

ObjectiveTo compare the diagnostic accuracy of different hormonal biomarkers and to find the most effective hormonal biomarker for the diagnosis of endometriosis.Data SourcesWe conducted a systematic search using PubMed, EMBASE, Cochrane Library, and China Biomedical Literature to identify relevant studies from the first day of databases to August 2018.Methods of Study SelectionTwo independent reviewers screened for study eligibility and extracted data. Random controlled trials, cross-sectional studies, case-control studies, and cohort studies evaluating the diagnostic accuracy of hormonal markers for endometriosis were included.Tabulation, Integration, and ResultsWe included 17 studies that involved 1279 participants and evaluated 7 hormonal biomarkers. The pooled sensitivity and specificity in endometriosis were .79 (.71, .86) and .89 (.82, .94) for aromatase, .30 (.18, .46) and .80 (.65, .90) for human chorionic gonadotropin/luteinizing hormone receptor, .75 (.66, .83) and .47 (.34, .60) for estrogen receptor (ER)-α, .65 (.56, .74) and .68 (.55, .80) for ER-β, .45 (.38–.52) and .92 (.85–.97) for serum prolactin, .69 (.51, .83) and .30 (.16, .49) for estrogen sulfotransferase, and .73 (.60–.84) and .48 (.33–.63) for 17β-hydroxysteroid dehydrogenase type 2 (17βHSD2). Compared with human chorionic gonadotropin/luteinizing hormone receptor, ER-α, ER-β, estrogen sulfotransferase, and 17βHSD2, aromatase had a higher sensitivity, specificity, positive likelihood ratio, and diagnostic odds ratio. The specificities of aromatase and serum prolactin were comparable, but the sensitivity, positive likelihood ratio, and positive likelihood ratio of serum prolactin were much lower than that of aromatase.ConclusionAromatase may be an excellent diagnostic test for endometriosis. However, because of the moderate quality of the included studies and the limited sample size, this result requires more research to validate. (PROSPERO registration number: PROSPERO 2018 CRD42018105126.)     

2017—2019 年武汉市血吸虫病重点水域哨鼠监测报告

目的 及时发现武汉市血吸虫病重点水域水体感染性,减少血吸虫病传播风险。 方法 选择血吸虫病易感重点水域长江武汉段、府河-沦河水系、东荆河-通顺河水系和金水河水系,采用哨鼠监测法监测水体血吸虫感染风险。 结果 2017—2019 年共开展哨鼠监测 38 点次,涉及全市 8 个区 21 个行政村。 三年共投放哨鼠 760 只,回收哨鼠 742 只,总回收率为 97. 63%;共解剖哨鼠 742 只,未发现阳性,未检获成虫,哨鼠感染率为 0。 结论 武汉市血吸虫病重点水域的水体感染性较低。     

Flow-Diverter Stenting of Intracavernous Internal Carotid Artery Mycotic Aneurysm

This is the first reported case in which a mycotic aneurysm refractory to the first medical treatment was treated with a Pipeline embolization device (PED), and the first case of a mycotic aneurysm from Brucella treated by endovascular therapy. A 35-year-old man presented with left eye pain and ptosis, and fever for 2 weeks. Before symptom onset, he visited Vietnam where he developed a flu-like illness; however, antibiotics were ineffective. We suspected Brucella as the most likely infectious etiology for the patient's intracavernous aneurysm. Since the aneurysm did not reduce in size following 2 weeks of antibiotic therapy, we placed a PED in the left internal carotid artery. Follow-up angiogram 4 months later showed no residual aneurysm, and cranial nerve palsies had completely resolved. From the results of this case, it appears that flow diverter stenting may be a safe and effective treatment of mycotic aneurysms of the cavernous segment of ICA.     

Does Hemophilia Increase Risk of Adverse Outcomes Following Total Hip and Knee Arthroplasty? A Propensity Score–Matched Analysis of a Nationwide,Population-Based Study

BackgroundEnd-stage hemophilic arthropathy is the result of recurrent joint hemarthrosis. Although total hip arthroplasty (THA) and total knee arthroplasty (TKA) can reduce severe joint pain and improve functional activity, controversy remains regarding outcomes after THA and TKA among patients with hemophilia. This study evaluated the risk of adverse outcomes of hemophilia patients who underwent THA and TKA.MethodsThis retrospective cohort study was conducted using data from the National Health Insurance Research Database. Patients who had hemophilia and underwent THA and TKA between 2000 and 2015 were identified. A total of 121 patients with hemophilia and 194,026 patients without hemophilia were included. Through propensity score matching, patients with hemophilia were matched at a 1:4 ratio to patients without hemophilia. Multivariable regression analysis was used to control for confounding variables and compare the risk of postoperative complications and mortality, differences in length of stay, and cost of care for the hospital.ResultsAfter propensity score matching and multivariate regression analysis, the adjusted hazard ratio of postoperative transfusion for hemophilia patients was 5.262 (95% confidence interval [CI] = 3.044-26.565, P < .001) in THA group and 6.279 (95% CI = 3.246-28.903, P < .001) in TKA group, when compared with the control group. Patients with hemophilia had longer length of hospital stay (THA group: 95% CI, 1.541-2.669, P < .001; TKA group: 95% CI, 1.568-2.786; P < .001) and higher total hospital charges (THA group: 95% CI, 3.518-8.293, P < .001; TKA group: 95% CI, 3.584-8.842; P < .001) compared to patients without hemophilia. Hemophiliacs had a higher yet nonsignificant 1-year infection rate (8.11% vs 3.38%, P = .206) in the THA group. There were no differences between the rates of 30-day and 90-day complications, 1-year infection, reoperation and mortality between the hemophilia and nonhemophilia groups.ConclusionHemophilia patients have higher rates of postoperative transfusion, hospital costs, and increased length of stay. There is an appreciable clinical difference in 1-year infection rates following THA but our analysis was limited by the small sample size. Other postoperative complications and mortality rates were comparable. Patients with hemophilia should be counseled that infection rate maybe as high as 8% following THA. Further investigation is needed to develop prophylactic and effective methods to decrease the rates of transfusions and associated adverse outcomes in hemophilia patients undergoing THA and TKA.