Objective To investigate the expression and clinical significance of proapoptotic genes HtraA2 in acute myeloid leukemia.Methods 78 cases of AML patients were divided into newly diagnosed AML group,complete remission group and hard flag group,and another 25 cases treated at the same period were set as the control group.The boue marrow and peripheral blood samples were collected from all the groups for total RNA extraction and detection of expressed HtrA2.The HtrA2 expressions were compared among thc groups.Finally 17 patients were followed up for 1～56 months.Results The HtrA2 expression levels of 3 groups were significantly different (x2 =35.13,P ＜ 0.05),with the ratio of maximum to minimum values up to 68.76.There were no statistically significant differences in the relative expression of gcnes HtrA2 among the FAB type (F =0.004,P ＞ 0.05).HtrA2 gene expression after treatment was significantly higher than before treatment in the patients followed up (P ＞ 0.05).HtrA2 gene might affect the survival time of patients (Wald =4.979,P ＜ 0.05),but age and gender had no influence on survival states (Wald =2.426 and 0.833,P ＞ 0.05).Survival curve analysis showed that the median smvival time was 34.50 months in the patients followed up.Conclusion The expression level of HtrA2 can be beneficial for the diagnosis,treatment and prognostic evaluation of AML.

Objective:To investigate the prevalence and associated risk factors of pre-hypertension and hypertension in young and middle-aged population in Nanjing.Methods:Subjects of the study were those who underwent physical examination in the physical examination center of Nanjing Drum Tower Hospital from 2009 to 2016. The prevalence and risk factors of pre-hypertension and hypertension in young (aged 18-44 years old) and middle-aged people (aged 45-59 years old) were analyzed.Results:A total of 142 857 participants aged 18-59 years old were analyzed. Among them, 64 220 cases in the pre-hypertension group and 13 912 cases in the hypertension group. The prevalence of hypertension was 9.74% (12.51% in males and 5.82% in females). The prevalence of pre-hypertension was 44.95% (53.31% in males and 33.15% in females). In the middle-aged group, the prevalence of pre-hypertension and hypertension were 51.68% and 15.13%, respectively, which was higher than that in the young group (37.95% and 4.13%, respectively). The prevalence of pre-hypertension and hypertension in 2013-2016 was 45.37% and 10.65%, respectively, which was higher than that in 2009-2012(44.52% and 8.78%). In addition, the prevalence of abnormal blood glucose metabolism, abnormal blood lipid metabolism and abnormal glucose and lipid metabolism in the pre-hypertension group was higher than that in the normal blood pressure group, but lower than that in the hypertension group ( P<0.001). A logistic regression analysis indicated that age, overweight or obesity, hyperglycemia, hypertriglyceridemia and hypercholesterolemia were risk factors of pre-hypertension in male. Age, overweight or obesity, hyperglycemia, hypertriglyceridemia, hypercholesterolemia and hyper-low density cholesterolemia were associated with hypertension in male and with pre-hypertension and hypertension in female. Conclusions:Middle age, overweight/obesity, elevated fasting plasma glucose, elevated triglyceride and elevated total cholesterol were risk factors of pre-hypertension and hypertension in both men and women. Intervention on the related risk factors should be conducted as early as possible.

Aim To introduce an improved method of Langendorff perfusion of the isolated rat heart that is easy to determine the termination of digestion.Methods Hearts were excised quickly from anesthetized SD rats.After the perfusate was free of blood,the solution was changed to perfusion buffer(0.6% Collagenase B,0.6% BSA,30 ?mol?L-1 Ca2+ in Tyrode solution)at 37℃.Hearts were isolated by traditional and improved Langendorff perfusion.Individual myocardial cell was measured by video-based motion edge-detection system(IonOptix,USA).Results One group of heart was digested by traditional Langendorff perfusion for 13~16 min.The termination of digestion could not be judged properly by this method.The nature and quality of the cardiocytes were various.The cardiocytes could not keep their survival and viability when exposed to Tyrode Solution with 1.8 mmol?L-1 Ca2+.Another group was digested by improved Langendorff perfusion.More than 80% survival cardiac ventricle myocytes could be obtained by improved Langendorff perfusion.Moreover,about 50% cardiac myocytes exposed to Tyrode solution with 1.8 mmol?L-1 Ca2+ could retain rod-shaped and be used to contraction research.The contraction of cardiocyte was stabile within 1 000 s.Conclusion Cardiac myocytes disassociated from improved Langendorff perfusion can be used in these studies of detecting contraction and relaxation.This method is economical and easy to control.The beginners are able to acquire the technological method over a short-term practice.

Infantile neuroaxonal dystrophy (INAD) is a rare autosome-recessive disease characterized by progressive motor and cognitive regression.The PLA2G6 gene is its causative gene,which encodes calcium-independent phospholipase A2 enzyme (iPLA2-VIA).The diagnosis of INAD is difficult because of its clinical heterogeneity,and the rate of misdiagnosis is high.The purpose of this study is to describe the clinical characteristics,molecular genetics,treatment and prognosis of INAD to improve the acknowledgement of INAD in medical workers and to help make an early diagnosis of INAD.

Objective To compare the value of bedside index for severity in acute pancreatitis (BISAP),Ranson score and Balthazar computed tomography severity index (CTSI) in predicting the severity and prognosis of acute pancreatitis (AP).Methods From 2005 to 2011 in Shanghai,the clinical data of 1004 AP cases from seven hospitals was collected and retrospectively analyzed.The value of BISAP score,Ranson score and Balthazar CTSI in predicting the severity and prognosis of AP were assessed with receiver operator characteristic (ROC) curve.Results Among 1004 patients,the main cause of AP was biliary disease (580 cases),about 57.77％.The incidence of pancreatic necrosis,mortality and SAP increased along with BISAP score.The risk of pancreatic necrosis in patients with CTSI ≥ three was significantly higher than that of ＜ three.The risk of pancreatic necrosis and SAP in patients with BISAP score ≥ two was significantly higher than that of ＜ two (OR:4.93,95％CI 3.62-6.70; OR 2.62,95％CI 1.59-4.31,respectively).There was no significant difference in the accuracy of predicting the progression and mortality of AP among these three score systems.However the sensitivity of BISAP score (OR:61.54,95％CI 35.09-87.99) in predicting the progression and mortality of AP was better than that of Ranson (OR:46.15,95 ％ CI 19.05-73.25) and CTSI (OR:46.15,95％CI 19.05-73.25).Conclusions BISAP score is easy to perform and when combined with CTSI,it helps to make the diagnosis and classification of AP in time,predict the prognosis accurately.Compared with Ranson score,BISAP score has higher clinical value.

Objective To investigate the prevalence and risk factors of chronic kidney disease (CKD) in middle-aged and older adult population in Shanghai Pudong New District.Methods Two thousand residents aged 45 years and above were randomly selected for questionnaire survey and health check-up in Shanghai Pudong New District from July 2006 to October 2010.The laboratory examinations were also performed including the urine routine,urinary protein to creatinine ratio,serum creatinine,blood glucose and lipids.The glomerular filtration rate (eGFR) was estimated by simplified Chinese MDRD (modification of Diet in Renal Disease) equation.SPSS 13.0 statistical software was used for statistical analysis.Results Among 1905 residents who completed survey and examinations,the adjusted prevalence of albuminuria was 12.0％ (95％ CI:0.105-0.135) and of eGFR less than 60 ml · min-1 · 1.73 m-2 was 1.9％ (95 ％ CI: 0.172-0.213).The prevalence of CKD was 12.6％ (95 ％ CI: 0.112-0.142).Logistic regression analysis revealed that age (OR =1.043),hypertension (OR =2.272),diabetes mellitus (OR =1.233)and hyperuricemia (OR =1.003)were independently associated with CKD.Conclusions The prevalence of CKD in adult residents (≥45 years) from Shanghai Pudong New District is high.It is necessary to carry out early screening and to intervene risk factors of CKD in middle-aged and older residents.

To investigate the effects of ventricular shunt placement in children with post-infective hydrocephalus.
 Methods: A total of 24 cases of post-infectious hydrocephalus, who received ventricular shunt, were enrolled. Age, gender, disease progression, clinical manifestation, laboratory data, treatment, prognosis, complication, and sequela for each patient were retrospectively reviewed.
 Results: Of the 24 cases, 8 had a full recovery, 11 had slight sequela, 2 had severe sequela, 1 was in vegetative state, and 2 died because of bacterial meningitis and tubercular meningitis. Epilepsy, mental impairment, visual and hearing damage were the main sequelae.
 Conclusion: Ventricular shunt is the preferred treatment in children with post-infective hydrocephalus, which shows positive clinical efficacy and can improve the long-term prognosis of such patients.
Child ; Humans ; Hydrocephalus ; Retrospective Studies ; Treatment Outcome ; Tuberculosis, Meningeal ; Ventriculoperitoneal Shunt

Objective To investigate the prevalence of tick-borne rickettsial infections in selected areas of Liupanshui City, Guizhou Province, 2023, so as to provide insights into the management of tick-borne rickettsioses in the city. Methods Ticks were captured from the body surface of bovines and sheep in Gaoxing Village, Dashan Township, Liupanshui City, Guizhou Province during the period between April and June, 2023, and tick species were identified using morphological and molecular biological techniques. In addition, tick-borne Rickettsia was identified using a nested PCR assay, including spotted fever group rickettsiae (SFGR), Coxiella spp., Anaplasma spp., Ehrlichia spp., and Orientia spp., and positive amplified fragments were sequenced and aligned with known sequences accessed in the GenBank database. Results A total of 200 ticks were collected and all tick species were identified as Rhipicephalus microplus. Nestle PCR assay combined with sequencing identified ticks carrying Candidatus Rickettsia jingxinensis (40.50%), Coxiella burnetii (1.50%), and Coxiella-like endosymbionts (27.00%), and Anaplasma spp., Ehrlichia spp. or Orientsia spp. was not detected. Conclusions R. microplus carried Candidatus R. jingxinensis, C. burnetii, and Coxiella-like endosymbionts in selected areas of Liupanshui City, Guizhou Province. Intensified monitoring of tickborne rickettsial infections is needed in livestock and humans to reduce the damages caused by rickettsioses.

Sterol-regulatory element binding proteins (SREBPs) are the key transcriptional regulators of lipid metabolism. The activation of SREBP requires translocation of the SREBP precursor from the endoplasmic reticulum to the Golgi, where it is sequentially cleaved by site-1 protease (S1P) and site-2 protease and releases a nuclear form to modulate gene expression. To search for new genes regulating cholesterol metabolism, we perform a genome-wide CRISPR/Cas9 knockout screen and find that partner of site-1 protease (POST1), encoded by C12ORF49, is critically involved in the SREBP signaling. Ablation of POST1 decreases the generation of nuclear SREBP and reduces the expression of SREBP target genes. POST1 binds S1P, which is synthesized as an inactive protease (form A) and becomes fully mature via a two-step autocatalytic process involving forms B'/B and C'/C. POST1 promotes the generation of the functional S1P-C'/C from S1P-B'/B (canonical cleavage) and, notably, from S1P-A directly (non-canonical cleavage) as well. This POST1-mediated S1P activation is also essential for the cleavages of other S1P substrates including ATF6, CREB3 family members and the α/β-subunit precursor of N-acetylglucosamine-1-phosphotransferase. Together, we demonstrate that POST1 is a cofactor controlling S1P maturation and plays important roles in lipid homeostasis, unfolded protein response, lipoprotein metabolism and lysosome biogenesis.

More than 100 genes located on the X chromosome have been found to be associated with X-linked intellectual disability (XLID) to date, and NEXMIF is a pathogenic gene for XLID. In addition to intellectual disability, patients with NEXMIF gene mutation can also have other neurological symptoms, such as epilepsy, abnormal behavior, and hypotonia, as well as abnormalities of other systems. Two children with intellectual disability and epilepsy caused by NEXMIF gene mutation were treated in the Department of Pediatrics, Xiangya Hospital, Central South University from March 8, 2017 to June 20, 2020. Patient 1, a 7 years and 8 months old girl, visited our department because of the delayed psychomotor development. Physical examination revealed strabismus (right eye), hyperactivity, and loss of concentration. Intelligence test showed a developmental quotient of 43.6. Electroencephalogram showed abnormal discharge, and cranial imaging appeared normal. Whole exome sequencing revealed a de novo heterozygous mutation, c.2189delC (p.S730Lfs*17) in the NEXMIF gene (NM_001008537). During the follow-up period, the patient developed epileptic seizures, mainly manifested as generalized and absent seizures. She took the medicine of levetiracetam and lamotrigine, and the seizures were under control. Patient 2, a 6-months old boy, visited our department due to developmental regression and seizures. He showed poor reactions to light and sound, and was not able to raise head without aid. Hypotonia was also noticed. The electroencephalogram showed intermittent hyperarrhythmia, and spasms were monitored. He was given topiramate and adrenocorticotrophic hormone (ACTH). Whole exome sequencing detected a de novo c.592C>T (Q198X) mutation in NEXMIF gene. During the follow-up period, the seizures were reduced with vigabatrin. He had no obvious progress in the psychomotor development, and presented strabismus. There were 91 cases reported abroad, 1 case reported in China, and 2 patients were included in this study. A total of 85 variants in NEXMIF gene were found, involving 83 variants reported in PubMed and HGMD, and the 2 new variants presented in our patients. The patients with variants in NEXMIF gene all had mild to severe intellectual disability. Behavioral abnormalities, epilepsy, hypotonia, and other neurological symptoms are frequently presented. The phenotype of male partially overlaps with that of female. Male patients often have more severe intellectual disability, impaired language, and autistic features, while female patients often have refractory epilepsy. Most of the variants reported so far were loss-of-function resulted in the reduced protein expression of NEXMIF. The degree of NEXMIF loss appears to correlate with the severity of the phenotype.
Child ; Epilepsy/genetics* ; Female ; Humans ; Intellectual Disability/genetics* ; Male ; Muscle Hypotonia/complications* ; Mutation ; Phenotype ; Seizures/genetics* ; Strabismus/complications*