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Previous studies have revealed that patients with hypertrophic cardiomyopathy (HCM) exhibit differences in symptom severity and prognosis, indicating potential HCM subtypes among these patients. Here, 793 patients with HCM were recruited at an average follow-up of 32.78 ± 27.58 months to identify potential HCM subtypes by performing consensus clustering on the basis of their echocardiography features. Furthermore, we proposed a systematic method for illustrating the relationship between the phenotype and genotype of each HCM subtype by using machine learning modeling and interactome network detection techniques based on whole-exome sequencing data. Another independent cohort that consisted of 414 patients with HCM was recruited to replicate the findings. Consequently, two subtypes characterized by different clinical outcomes were identified in HCM. Patients with subtype 2 presented asymmetric septal hypertrophy associated with a stable course, while those with subtype 1 displayed left ventricular systolic dysfunction and aggressive progression. Machine learning modeling based on personal whole-exome data identified 46 genes with mutation burden that could accurately predict subtype propensities. Furthermore, the patients in another cohort predicted as subtype 1 by the 46-gene model presented increased left ventricular end-diastolic diameter and reduced left ventricular ejection fraction. By employing echocardiography and genetic screening for the 46 genes, HCM can be classified into two subtypes with distinct clinical outcomes.
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Objective:To investigate the causes of buccal masses after temporal autologous fat grafting, and to summarize the therapeutic methods to avoid medical disputes.Methods:Ten female patients (25-40 years; mean age, 33.1±7.5 years) with buccal mass complication after temporal autologous fat grafting were retrospectively analyzed, and statistics was done on their fat injection history, postoperative buccal mass symptom onset time, intraoperative mass conditions, postoperative pathological and fluid bacterial culture results, and postoperative recovery.Results:The unilateral temporal fat injection volume was 15-30 ml, and the buccal masses occurred 1-6 months after temporal autologous fat grafting. Lipoid masses were found in the buccal space during the operation, and some of them contained liquid. The postoperative pathological results indicated local necrosis in fibrotic adipose tissues. All the fluid bacteria cultures were negative, only one showed positive culture of acid-fast bacilli. 6-12 months postoperative follow-up visit was performed, and 9 patients recovered and 1 patient recovered after re-operation.Conclusions:The overfilled fat and liquefied necrotic fat after temporal fat grafting may move down to buccal space to form buccal masses, which should be treated by operation early to achieve a good prognosis.
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This study aimed to obtain the first national estimate of the prevalence of autism spectrum disorder (ASD) in Chinese children. We targeted the population of 6 to 12-year-old children for this prevalence study by multistage convenient cluster sampling. The Modified Chinese Autism Spectrum Rating Scale was used for the screening process. Of the target population of 142,086 children, 88.5% (n = 125,806) participated in the study. A total of 363 children were confirmed as having ASD. The observed ASD prevalence rate was 0.29% (95% CI: 0.26%-0.32%) for the overall population. After adjustment for response rates, the estimated number of ASD cases was 867 in the target population sample, thereby achieving an estimated prevalence of 0.70% (95% CI: 0.64%-0.74%). The prevalence was significantly higher in boys than in girls (0.95%; 95% CI: 0.87%-1.02% versus 0.30%; 95% CI: 0.26%-0.34%; P < 0.001). Of the 363 confirmed ASD cases, 43.3% were newly diagnosed, and most of those (90.4%) were attending regular schools, and 68.8% of the children with ASD had at least one neuropsychiatric comorbidity. Our findings provide reliable data on the estimated ASD prevalence and comorbidities in Chinese children.
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Objective To evaluate the effect of Lejours' procedure in the treatment of breast prolapse.Methods From July 2014 to July 2018,the Second People's Hospital of Guangdong Prov ince accepted 36 female patients with breast prolapse and correction failure,aged 25 42 years,with an average age of 32.1 years.According to the preoperative design,the pedicel epidermis,the redundant skin,the prosthesis and capsule were removed,and the mammary flap was fixed on the fascia of pectoralis major muscle,and the nipple and areola were fixed and sutured layer by layer.Results In 36 cases,the shape of breast was improved,the scar of incision was smaller,and the color of scar became lighter with time.There were no serious complications such as nipple and areola necrosis.The breast was straight and round after operation.After 6-24 months follow-up,one patient had delayed wound healing and received repeated dressing changes for 7 days.Conclusions The design of the op eration is simple,with little scar,few complications and good long term effect.The shape of the breast after repair is round and straight,which can be used as one of the feasible operation methods for the repair of breast ptosis.
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This study aimed to obtain the first national estimate of the prevalence of autism spectrum disorder (ASD) in Chinese children. We targeted the population of 6 to 12-year-old children for this prevalence study by multistage convenient cluster sampling. The Modified Chinese Autism Spectrum Rating Scale was used for the screening process. Of the target population of 142,086 children, 88.5% (n = 125,806) participated in the study. A total of 363 children were confirmed as having ASD. The observed ASD prevalence rate was 0.29% (95% CI: 0.26%-0.32%) for the overall population. After adjustment for response rates, the estimated number of ASD cases was 867 in the target population sample, thereby achieving an estimated prevalence of 0.70% (95% CI: 0.64%-0.74%). The prevalence was significantly higher in boys than in girls (0.95%; 95% CI: 0.87%-1.02% versus 0.30%; 95% CI: 0.26%-0.34%; P < 0.001). Of the 363 confirmed ASD cases, 43.3% were newly diagnosed, and most of those (90.4%) were attending regular schools, and 68.8% of the children with ASD had at least one neuropsychiatric comorbidity. Our findings provide reliable data on the estimated ASD prevalence and comorbidities in Chinese children.
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Objective To evaluate mammaplasty for repairing the serious breast asymmetry.Methods Different mammaplasty was used to repair 38 cases of breast asymmetry,including 13 cases of unilateral breast augmentation,10 cases of breast reduction after different volume resection on each side,4 cases of unilateral partial breast resection,5 cases of breast reduction on one side and breast suspended on another side,4 cases of breast suspension on one side and augmentation on the other side,and 2 cases of only suspension on unilateral breast.The 38 cases were followed up for 3 to 12 months postoperatively to evaluate the results.Results One case had slight ptosis in half a year after breast suspension.Apart from mentioned above,the rest of 11 had favorable and satisfactory results.Conclusions The serious breast asymmetry deformities should be corrected with the method of the simple and minimum injuries to make the best result.
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Objective To seek an effective surgical procedure to treat patients with the varying degrees of breast ptosis and micromastia.Methods Patients were classified into Ⅰ-Ⅳ degrees based on different breast ptosis,and treated by different methods.Degree Ⅰ was treated with implanting prosthesis to the post-pectoralis major space; degree Ⅱ patients were repaired with avulsion of deeper mammary gland and pectoralis major and hanging fixed breast tissue,based on the degree Ⅰ procedure; degree Ⅲ was fixed with breast tissue flap,excised redundant epidermis by the method of double-rings and the complex of nipple and areola was shifted,based on the degree Ⅱ procedure; degree Ⅳ was repaired with implanting prosthesis and the method of lines to hanging fixed breast.Results In 116 cases of this study,there were no hematoma,infection and nipple and areola necrosis by the combined strategies.The follow-up period after the surgery was 6-31 months (mean 13.3 months).All cases had voluptuous and upright breasts,rectified breast ptosis,with the normal sense of nipple and areola.Conclusions For breast ptosis and hypoplasia,the combined strategies have better clinical therapeutic effects.
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Objective To summarize the experience of the integrated treatment on mid-face ageing for better cosmetic results.Methods A total of 56 cases were treated.With using subciliary approaches,the orbicularis oculi was resected to expose the orbital septum,the orbital fat relieved and orbital septum reseted.Hyaluronic acid was injected to some patients with obvious nasolabial fold after operation.Results 56 cases were all followed up from 6 to 26 months (11.8 months on average) postoperatively.The flabby tissue had been tightened and all got better effects.Conclusions Various combination of technologies can be applied to reach the purpose of rejuvenation by correcting the volume abnormality,resetting the tissue,elevating reasonably,and filling the facial depression.
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Heme is a key cofactor in aerobic life, both in eukaryotes and prokaryotes. Because of the high reactivity of ferrous protoporphyrin IX, the reactions of heme in cells are often carried out through heme-protein complexes. Traditionally studies of heme-binding proteins have been approached on a case by case basis, thus there is a limited global view of the distribution of heme-binding proteins in different cells or tissues. The procedure described here is aimed at profiling heme-binding proteins in mouse tissues sequentially by 1) purification of heme-binding proteins by heme-agarose, an affinity chromatographic resin; 2) isolation of heme-binding proteins by SDS-PAGE or two-dimensional electrophoresis; 3) identification of heme-binding proteins by mass spectrometry. In five mouse tissues, over 600 protein spots were visualized on 2-DE gel stained by Commassie blue and 154 proteins were identified by MALDI-TOF, in which most proteins belong to heme related. This methodology makes it possible to globally characterize the heme-binding proteins in a biological system.