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In this retrospective study, charts of inpatients with spinal tuberculosis (STB) treated in large-scale general hospitals in Changsha, Hunan, China, between 2007 and 2016 were reviewed to investigate their clinical characteristics. Demographic, epidemiological and clinical features, imaging findings, treatment methods, and prognosis were summarized and analyzed. There were 1378 patients, 805 males and 573 females, with a mean age of 43.7 years. The mean interval between symptom onset and diagnosis was 16.0 months (range 15 days–240 months). The incidence of back pain, radicular pain and symptoms of systemic toxicity was 92.5%, 40.1%, and 32.1%, respectively. The rate of neurological impairment was 49.9 %. STB was present in two or more vertebrae in 91.1% of patients, with two adjacent vertebrae being involved in 67.9% of them. The lumbar segment (38.2%) was the most frequently affected, followed by the thoracic spine (35.7%). The sacrococcygeal area was the least frequently involved (0.8%). Abscesses were detected in 65.5% of patients. One thousand patients (72.6%) were managed with surgery and 378 (27.4%) with anti-TB drugs only. Cure was achieved in 1215 patients (88.2%), whereas 49 (3.5 %) had relapses. Concomitant pulmonary TB (PTB) was diagnosed in 366 patients (26.6%) and 63 (4.6%) had concomitant diabetes. Compared with the previous five years, the number of older patients, urban patients, and medical staff with STB had increased by 6.1%, 5.2%, and 1.3%, respectively in the five years studied. STB remains a severe public health problem that cannot be ignored. Most of the patients ignored early symptoms and therefore received untimely treatment. Thus, surveillance for and treatment of STB in South-central China requires strengthening. In addition to the current China-wide database of patients with PTB, a China-wide database of patients with STB should also be set up. [ABSTRACT FROM AUTHOR]

Lynch syndrome is a genetically and clinically heterogeneous disorder; it is caused by a germline mutation in DNA mismatch repair (MMR) genes. Individuals with a heterozygous mutation in MLH1 have an increased risk for developing colorectal cancer. Here we described a 5-generation Chinese Lynch syndrome family with different severity and onset age. A novel heterozygous germline mutation (c.3G>T, p.Met1Ile) in MLH1 gene was discovered by next generation sequencing. Our study also revealed by qPCR that the MLH1 mRNA expression in peripheral blood of patients in this family was remarkably lower than that of the unaffected carriers and non-carriers. The research results indicated that the mRNA expression level may provide predictive suggestions of treatment and management for carriers with the initiation codon mutation of MLH1 in this family. Further studies are undertaken in this family as well as other families with Lynch syndrome to interrogate the exact reasons affecting the MLH1 mRNA expression level and whether mRNA expression in peripheral blood could be a significant factor for early diagnosis and surveillance of Lynch syndrome. [ABSTRACT FROM AUTHOR]