ABSTRACT
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.
ABSTRACT
Thoracic aortic dissection (TAD) without familial clustering or syndromic features is known as sporadic TAD (STAD). So far, the genetic basis of STAD remains unknown. Whole exome sequencing was performed in 223 STAD patients and 414 healthy controls from the Chinese Han population (N = 637). After population structure and genetic relationship and ancestry analyses, we used the optimal sequence kernel association test to identify the candidate genes or variants of STAD. We found that COL3A1 was significantly relevant to STAD (P = 7.35 × 10
Subject(s)
Humans , Aortic Dissection/genetics , Case-Control Studies , Cluster Analysis , Cohort Studies , Collagen Type III/genetics , Computational Biology , Genetic Predisposition to DiseaseABSTRACT
Objective To summarize the experience of intraoperative rapid parathyroid hormone (PTH) detection by immunochromatography in thyroid surgery.Methods Patients undergoing thyroid surgery in Shanghai Tenth People's Hospital from Nov.2016 to Jul.2017 were collected and the clinical data including level of blood calcium,serum phosphorus and PTH,and pathological findings were analyzed.Results In this study,im munochromatographic assay was used in 45 cases (experimental group) and nano carbon method was used in 47 cases (control group).In benign cases,levels of blood calcium and PTH in experimental group were higher than those in the control group ((2.07±0.09) vs (2.04±0.06) and (3.41±1.82) vs (3.34±1.84),P＞0.05).In malignant cases,blood calcium level in experimental group was higher than that in the control group ((2.02±0.13) vs (1.99±0.38),P＞0.05) and PTH level was significantly higher than that in the control group ((2.22±1.27) vs (1.44±1.44),P＜0.05).Serum phosphorus level in experimental group group was much lower than that in the control group ((1.02±0.17) vs (1.14±0.23),P＜0.05).Conclusions Using intraoperative rapid PTH detection by immunochromatography can identify parathyroid and avoid accidental injury of parathyroid gland,which can reduce the postoperative incidence of hypocalcemia.
ABSTRACT
NF-κB a factor possessing multiple transcription functions, has been demonstrated to have relation with the imbalance between cell proliferation and apoptosis in stomach, intestines, liver and other tissues of digestive tract. The active NF-κB signal transduction is extensively involved in the precancerous lesion,rumor development and invasion and metastasis. The therapies aimed at the activation of NF-κB can promote apoptosis of tumor cells, reduce the resistance against chemo-radiotherapy and relieve the cachexia caused by tumor.
ABSTRACT
After analyzing the clinical data of 5 injured persons diagnosed with delayed spleen or liver rupture combined with fractures after the Wenchuan earthquake, we found that the abdominal injuries in earthquake were rare but usually very severe. Since almost all the injured persons had multiple injuries, mortality was extremely high. First aid service should be applied in the first 6 to 8 hours. Orderly physical examination and peritoneocentesis in multiple sites are in favor of diagnosis. Reducing the missed diagnosis rate of abdominal injuries is important in raising the rate of successful treatment. Therapy for earthquake injuries should be focused on the most deadly injuries after a thorough examination, besides this, precise employment of control surgery, swift transportation of the injured persons, and prevention and dealing with complications are also important.