Clinical spectrum and gene mutations in a Chinese cohort with anoctaminopathy

Recessive mutations in anoctamin-5 (ANO5) are causative for limb-girdle muscular dystrophy (LGMD) 2L and non-dysferlin Miyoshi-like distal myopathy (MMD3). ANDS mutations are highly prevalent in European countries; however it is not common in patients of Asian origin, and there is no data regarding the Chinese population. We retrospectively reviewed the clinical manifestations and gene mutations of Chinese patients with anoctaminopathy. A total of five ANDS mutations including four novel mutations and one reported mutation were found in four patients from three families. No hotspot mutation was found. Three patients presented with presymptomatic hyperCKemia and one patient had limb muscle weakness. Muscle imaging of lower limbs showed preferential adductor magnus and medial gastrocnemius involvement. No hotspot mutation has been identified in Chinese patients to date. (C) 2019 Elsevier B.V. All rights reserved.Peer reviewe

Epigenetic modification and inheritance in sexual reversal of fish

Environmental sex determination (ESD) occurs in divergent, phylogenetically unrelated taxa, and in some species, co-occurs with genetic sex determination (GSD) mechanisms. Although epigenetic regulation in response to environmental effects has long been proposed to be associated with ESD, a systemic analysis on epigenetic regulation of ESD is still lacking. Using half-smooth tongue sole (Cynoglossus semilaevis) as a model—a marine fish that has both ZW chromosomal GSD and temperature-dependent ESD—we investigated the role of DNA methylation in transition from GSD to ESD. Comparative analysis of the gonadal DNA methylomes of pseudomale, female, and normal male fish revealed that genes in the sex determination pathways are the major targets of substantial methylation modification during sexual reversal. Methylation modification in pseudomales is globally inherited in their ZW offspring, which can naturally develop into pseudomales without temperature incubation. Transcriptome analysis revealed that dosage compensation occurs in a restricted, methylated cytosine enriched Z chromosomal region in pseudomale testes, achieving equal expression level in normal male testes. In contrast, female-specific W chromosomal genes are suppressed in pseudomales by methylation regulation. We conclude that epigenetic regulation plays multiple crucial roles in sexual reversal of tongue sole fish. We also offer the first clues on the mechanisms behind gene dosage balancing in an organism that undergoes sexual reversal. Finally, we suggest a causal link between the bias sex chromosome assortment in the offspring of a pseudomale family and the transgenerational epigenetic inheritance of sexual reversal in tongue sole fish

MRI of neurosyphilis presenting as brain tumor: A case report

Syphilis has a broad spectrum of clinical manifestations, among which cerebral gumma is a kind of neurosyphilis. However, it is rare and can be cured by penicillin. We report a case of syphilitic gumma of which the patient was first suspected of brain tumor, but confirmed by surgery to be cerebral gumma due to neurosyphilis. Magnetic resonance imaging, which is thought to be one of the potential and specific diagnostic methods for neurosyphilis, is discussed

Winter Green Manure Decreases Subsoil Nitrate Accumulation and Increases N Use Efficiencies of Maize Production in North China Plain

Planting a deep-rooted green manure (GM) (more than 1.0 m depth) greatly improves soil fertility and reduces the loss of nutrients. However, few studies have examined the response of soil nitrogen (N) distribution in the soil profile and subsoil N recovery to the long-term planting and incorporation of deep-rooted GM. Based on a 12-year (2009–2021) experiment of spring maize-winter GMs rotation in the North China Plain (NCP), this study investigated the effects of different GMs that were planted over the winter, including ryegrass (RrG, Lolium L.) (>1.0 m), Orychophragmus violaceus (OrV, Orychophragmus violaceus L.) (>0.8 m), and hairy vetch (VvR, Vicia villosa Roth.) (>1.0 m), on the spring maize yield, N distribution in the deep soil profile, N use efficiencies, functional gene abundances involving soil nitrification–denitrification processes and N2O production. Compared with the winter fallow, the maize yield significantly increased by 11.6% after 10 years of green manuring, and water storage in 0–200 cm soil profile significantly increased by 5.0–17.1% at maize seedling stage. The total N content in the soil layer at 0–90 cm increased by 15.8–19.7%, while the nitrate content in the deep soil layer (80–120 cm) decreased by 17.8–39.6%. Planting GM significantly increased the N recovery rate (10.4–32.7%) and fertilizer N partial productivity (4.6–13.3%). Additionally, the topsoil N functional genes (ammonia-oxidizing archaea amoA, ammonia-oxidizing bacterial amoA, nirS, nirK) significantly decreased without increasing N2O production potential. These results indicated that long-term planting of the deep-rooted GM effectively reduce the accumulation of nitrates in the deep soil and improve the crop yield and N use efficiencies, demonstrating a great value in green manuring to improve the fertility of the soil, increase the crop yield, and reduce the risk of N loss in NCP

Whole-organ CT perfusion of the pancreas: impact of iterative reconstruction on image quality, perfusion parameters and radiation dose in 256-slice CT-preliminary findings.

BACKGROUND: This study was performed to assess whether iterative reconstruction can reduce radiation dose while maintaining acceptable image quality, and to investigate whether perfusion parameters vary from conventional filtered back projection (FBP) at the low-tube-voltage (80-kVp) during whole-pancreas perfusion examination using a 256-slice CT. METHODS: 76 patients with known or suspected pancreatic mass underwent whole-pancreas perfusion by a 256-slice CT. High- and low-tube-voltage CT images were acquired. 120-kVp image data (protocol A) and 80-kVp image data (protocol B) were reconstructed with conventional FBP, and 80-kVp image data were reconstructed with iDose(4) (protocol C) iterative reconstruction. The image noise; contrast-to-noise ratio (CNR) relative to muscle for the pancreas, liver, and aorta; and radiation dose of each protocol were assessed quantitatively. Overall image quality was assessed qualitatively. Among 76 patients, 23 were eventually proven to have a normal pancreas. Perfusion parameters of normal pancreas in each protocol including blood volume, blood flow, and permeability-surface area product were measured. RESULTS: In the quantitative study, protocol C reduced image noise by 36.8% compared to protocol B (P<0.001). Protocol C yielded significantly higher CNR relative to muscle for the aorta, pancreas and liver compared to protocol B (P<0.001), and offered no significant difference compared to protocol A. In the qualitative study, protocols C and A gained similar scores and protocol B gained the lowest score for overall image quality (P<0.001). Mean effective doses were 23.37 mSv for protocol A and 10.81 mSv for protocols B and C. There were no significant differences in the normal pancreas perfusion values among three different protocols. CONCLUSION: Low-tube-voltage and iDose(4) iterative reconstruction can dramatically decrease the radiation dose with acceptable image quality during whole-pancreas CT perfusion and have no significant impact on the perfusion parameters of normal pancreas compared to the conventional FBP reconstruction using a 256-slice CT scanner

Evaluation of myocardial fibrosis by cardiac magnetic resonance imaging in patient with myotonic dystrophy type 1

Objective: To evaluate myocardial fibrosis by cardiac magnetic resonance (CMR) in the patients with myo-tonic dystrophy type 1 (DM1), and compare the value of CMR and ECG. Methods: A total of 14 patients with genetically conformed DM1 were included, and were performed CMR, electrocardiogram and dynamic electrocardiogram. Myocardial fibrosis was defined as presence of late gadolinium enhancement (LGE) in CMR. According to the results of ECG and/or dynamic ECG, the patients with DM1 were divided into normal ECG and abnormal ECG groups, and the CMR results were compared between two groups. Results: CMR examination showed that the detection rate of myocardial fibrosis in DM1 patients was 35.7% (5 out of 14). Compared with those without myocardial fibrosis, the patients with myocardial fibrosis had higher left ventricular mass index [(47.1&#x000b1;5.4) g/m2 vs. (40.2&#x000b1;3.4) g/m2, P=0.012)], left ventricular end-systolic volume index [(31.5&#x000b1;5.5) mL/m2 vs. (25.8&#x000b1;2.8) mL/m2, P=0.024)], and left atrial volume index [(43.8&#x000b1;7.1) mL/m2 vs. (34.3&#x000b1;7.4) mL/m2, P=0.037), while had lower left ventricular ejection fraction [(52.2&#x000b1;11.1)% vs. (63.9&#x000b1;5.3)%, P=0.019]. There was no correlation between the existence of myocardial fibrosis and the abnormal finding of ECG (44.4% vs. 20.0%, P=0.36) in the patients with DM1, while the other abnormal incidence detected by CMR was higher in abnormal ECG group than in normal ECG group (77.8% vs. 20.0%, P=0.036). Conclusions: Myocardial fibrosis occurs in some patients with DM1. For the patients with DM1, ECG screening fails to predict myocardial fibrosis, while CMR is valuable. Routine cardiac assessments for DM1 patients should include both CMR and ECG

Cerebral pulsatility in relation with various imaging markers of cerebral small vessel disease: a longitudinal community-based study

Background: Cerebral pulsatility is thought to reflect arterial stiffness and downstream microvascular resistance. Although previous studies indicated cerebral pulsatility might closely relate to development of cerebral small vessel disease (SVD), yet evidence remain controversial and longitudinal data are rare. Objective: We aimed to explore relationships of cerebral pulsatility with severity and progression of various SVD imaging markers among the community-dwelling elderly. Design: A longitudinal cohort study. Methods: As part of the prospective community-based Shanghai Aging Study cohort, dementia- and stroke-free elderly were recruited for baseline assessment of cerebral pulsatility and SVD severity during 2010–2011 and traced for SVD progression during 2016–2017. Cerebral pulsatility was quantified for both anterior and posterior circulation with transcranial Doppler ultrasound. SVD imaging markers were measured with brain magnetic resonance imaging (MRI) including white matter hyperintensities (WMHs), enlarged perivascular spaces (ePVS), lacunes, and microbleeds. The cross-sectional and longitudinal relationships between cerebral pulsatility and SVD were analyzed by univariable and multivariable regression models. Results: Totally, 188 eligible subjects were included at baseline and out of them, 100 (53.19%) returned for a 7-year follow-up. At baseline, increased pulsatility of posterior circulation was independently associated with more periventricular WMH (PWMH) and ePVS in basal ganglia (BG-ePVS) but not with other SVD markers. Longitudinally, higher posterior pulsatility predicted greater PWMH progression in participants with hypertension (β = 2.694, standard error [SE] = 1.112, p  = 0.020), whereas pulsatility of anterior circulation was shown to prevent BG-ePVS progression among followed-up elderly (β = −6.737, SE = 2.685, p  = 0.012). However, no significant relationship was found between cerebral pulsatility and burden of lacunes or cerebral microbleeds. Conclusion: Higher pulsatility of posterior circulation could worsen PWMH progression, especially for participants with hypertension. But for development of ePVS, increased cerebral pulsatility could play a compensatory role among several healthy elderly. The distinct relationships between cerebral pulsatility and various SVD markers emphasized the importance of individualized SVD management

Left Atrial Appendage Occlusion Guided Only by Transesophageal Echocardiography

Aims. To investigate a new method of left atrial appendage occlusion without fluoroscopy. Methods and Results. We performed left atrial appendage occlusion for 14 patients with atrial fibrillation in our hospital. All of the surgeries were completed in a general surgery setting, avoiding fluoroscopy, and in each case, the entire procedure was guided by transesophageal echocardiography (TEE). All of the surgeries were performed through the femoral vein pathway. All operations went smoothly with no serious complications. Postoperative TEE indicated that each device was in a good position, and there was no residual shunt around any of the devices. Conclusions. TEE-guided left atrial appendage occlusion is safe and reliable, simplifies the procedure, protects doctors and patients from radiation, and is gradually becoming the mainstream operation for left atrial appendage occlusion. This trial is registered with ChiCTR1800018387