[Genetic diagnosis of microcephaly].

Objective: To explore the diagnostic value of chromosome karyotype analysis, chromosomal microarray analysis (CMA) and whole exome sequencing (WES) in microcephaly. Methods: A total of 9 cases of microcephaly fetuses diagnosed by prenatal ultrasound or children with microcephaly diagnosed after birth were selected from the Sixth Affiliated Hospital of Guangzhou Medical University from January 2014 to August 2022.Karyotype analysis and/or CMA were used to detect. The cases with negative karyotype analysis and CMA results were further sequenced by trio-based WES (Trio-WES). Then the coding genes contained in the pathogenic copy number variation (CNV) fragments were analyzed by gene ontology (GO) enrichment. The genes related to the development of the central nervous system contained in the pathogenic CNV and the pathogenic genes found by Trio-WES were combined for gene interaction network analysis. Results: In this study, 9 cases of microcephaly were recruited, with the time of diagnosis ranged from 23 weeks of gestation to 7 years after birth, and the head circumference of fetus or children ranged from 18.3 to 42.5 cm (-7SD to -2SD). Karyotype analysis was detected in all 9 cases and no abnormality result was found. Eight cases were detected by CMA, and one abnormal was found. Five cases were detected by Trio-WES, and two cases were detected with likely pathogenic genes. The GO enrichment analysis of the coding gene in the 4p16.3 microdeletion (pathogenic CNV) region showed that: in biological process, it was mainly concentrated in phototransduction, visible light; in terms of molecular function, it was mainly concentrated in fibroblast growth factor binding; in terms of cell components, it was mainly concentrated in rough endoplasmic reticulum. Gene interaction network analysis suggested that CDC42 gene could interact with CTBP1, HTT and ASPM gene. Conclusions: CMA could be used as a first-line detection technique for microcephaly. When the results of chromosome karyotype analysis and/or CMA are negative, Trio-WES could improve the detection rate of pathogenicity of microcephaly.

[Recommendations of diagnosis and treatment of relapsing polychondritis in China].

Relapsing polychondritis is an immune mediated systemic inflammatory disease, involving the cartilaginous and proteoglycan rich structures. The characteristic manifestations were inflammation and deformity of ear and nasal cartilage. Here, Chinese Rheumatology Association summarized manifestations, diagnosis and disease activity index evaluation of relapsing polychondritis, standardized treatment regimens, to improve disease prognosis.

[Ocular biometry of infants and young children with congenital cataract].

Objective: To understand the developmental characteristics of early ocular biological parameters in patients with congenital cataract. Methods: Retrospective case series study. The ocular biometry data such as the axial length, corneal curvature, anterior chamber depth and central corneal thickness of 169 patients under 3 years old who were diagnosed with congenital cataract in Eye Hospital of Wenzhou Medical University (Hangzhou Branch) from June 2016 to June 2020 were reviewed, and they were analyzed by 3 age groups. There were 87, 41, and 41 patients in three age groups, 1 to 6 months, 7 to 12 months, and 13 to 36 months, respectively; 108 patients with bilateral affected eyes and 61 patients with unilateral affected eyes were included; 84 patients with partial opacity lens and 85 patients with total opacity lens were included. The right eyes of the patients with bilateral congenital cataract were selected for analysis. Statistical analysis of ocular biological parameters between groups was performed using the independent samples t-test and paired samples t-test. Statistical analysis of the relationship between age in months and biological parameters was performed using the Pearson's correlation test. Results: The axial length at the age of 1 to 6 months in the affected eyes of patients with bilateral cataract was (17.59±1.19) mm, it was shorter than the affected eyes of patients with unilateral cataract [(18.18±1.34) mm], and the axial length in the affected eyes of patients with unilateral cataract were shorter than the healthy eyes [(19.01±0.93) mm]. At the age of 7 to 12 months, the axial length in the affected eyes of patients with unilateral cataract [(19.89±0.74) mm] was shorter than the healthy eyes [(20.48±0.43) mm]. The differences were statistically significant (t=-2.06, -5.62, -3.47, all P<0.05). The axial length in the affected eyes with partial opacity at the age of 1 to 6 months was shorter than those with total opacity [(17.43±1.14) mm vs. (18.06±1.29) mm; t=-2.38, P=0.020]. The difference in axial length (affected eyes vs. healthy eyes) was significantly correlated with the age in months in partial cataract (r=0.53, P=0.001). The corneal curvature in the affected eyes of patients with unilateral cataract was flatter than the healthy eyes at the age of 7 to 12 months [(42.41±1.82) D vs. (43.19±1.96) D; t=-2.29, P=0.038], but was steeper at the age of 13 to 36 months [(43.36±2.32) D vs. (42.55±1.88) D; t=2.17, P=0.043]. The anterior chamber depth in the affected eyes of patients with unilateral cataract was less than the healthy eyes at the age of 1 to 6 months [(2.44±0.37) mm vs. (2.58±0.33) mm; t=-2.08, P=0.048].The central corneal thickness in the affected eyes of patients with unilateral cataract was thicker than the healthy eyes both at the age of 1 to 6 months and 7 to 12 months [(555.26±46.95) µm vs. (541.85±40.78) µm, (542.93±27.63) µm vs. (530.93±30.36) µm; t=3.82, 2.26; P=0.001, 0.040]. Conclusions: Congenital cataracts maybe affect the early development of axial length, corneal curvature, anterior chamber depth and central corneal thickness. The degree of lens opacity maybe affecte the early axial length development. The axial length in eyes with partial opacity can be shorter than those with total opacity before the age of 6 months, and thereafter gradually outnumbered the latter.

[Analysis of epidemiological characteristics of human coronavirus in hospitalized children with respiratory tract infection in Hebei region].

Objective: To investigate the epidemiological characteristics of human coronavirus (HCoV) in hospitalized children with respiratory tract infection in Hebei region, providing evidence for the diagnosis and prevention of children with respiratory tract infection. Methods: A retrospective study was conducted on 1 062 HCoV positive children hospitalized for respiratory tract infection in Children's Hospital of Hebei Province from January 2015 to December 2020, aged from 33 days to 14 years, with a median age of 2 years. 27 932 (60.9%) were males and 17 944(39.1%) were females. And the gender, ages, seasonal distribution, HCoV-positive rates, co-detection distribution and clinical diagnosis of HCoV positive cases were analyzed by SPSS 25.0. Enumeration data were expressed by frequency and percentage; categorical variable were compared by the Pearson χ2test. Results: The overall HCoV-positive rate was 2.31% (1 062/45 876), which was 2.37% (662/27 932) in male children and 2.23% (400/17 944) in female children. There was no statistically significant difference between genders (χ²=0.916, P=0.339). Children at age groups<1 years (2.44%) and 1-<3 years (2.63%) had higher HCoV-positive rates than those at age groups 3-<5 years (1.97%) and ≥5 years (1.38%) (χ²=27.332,P<0.01). The HCoV-positive rates from 2015 to 2018 were 2.13%, 2.45%, 2.28% and 2.23%. The HCoV-positive rate of 2019 (1.71%) was significantly lower than in 2016 (χ²=12.05, P<0.01), 2017 (χ²=7.34, P=0.01) and 2018 (χ²=6.78, P=0.01), but there was no significant difference compared with 2015 (χ²=2.84, P=0.09). The HCoV-positive rate of 2020 (3.37%) was significantly higher than in 2015 (χ²=13.636, P<0.01), 2016 (χ²=11.099, P<0.01), 2017 (χ²=15.482, P<0.01), 2018(χ²=18.601, P<0.01) and 2019(χ²=45.580, P<0.01). The positive rate was highest in spring (March to May) in 2015 and 2017 to 2018. February to April and July to September of 2016 were the peak periods of positive detection. No obvious seasonal change was observed in 2019 and the HCoV-positive rate of 2020 was extremely low from January to July, following significantly increased from August to December. 26.37% (280/1 062) of HCoV were co-detected with other respiratory pathogens and the most frequently identified mixed detection was RSV. Three or more pathogens were detected in 7.34% (78/1 062) of the HCoV-positive samples. Bronchopneumonia and bronchiolitis were more frequently observed in the single HCoV positive (61.89% and 16.75%) children compared to co-detected children(34.29% and 9.64%)(χ²=63.394 and 8.228, P<0.01). However, compared to those with HCoV mono-detection, co-detected children were more likely to have severe pneumonia (4.6% and 47.14%) (χ²=280.171, P<0.01). Conclusions: HCoV is one of the respiratory pathogens in children in Hebei region and more prevalent in spring. The susceptible population of HCoV is mainly children under the age of 3 years old. HCoV often co-detects with other respiratory pathogens, and the co-infection is one of the risk factors of severe pneumonia in children with respiratory infection.

[Sporadic meningioangiomatosis: a clinicopathological analysis].

Objective: To analyze the clinicopathological characteristics, diagnosis and prognosis of meningioangiomatosis (MA), and to investige the possible origion of spindle cells. Methods: Seventeen cases of MA were collected at Xuanwu Hospital of Capital Medical University and the First Affiliated Hospital of Fujian Medical University, from June 2012 to March 2020. The clinical manifestations, radiologic, histopathologic, immunohistochemical features and patients' outcome were analyzed. The presumed origin of spindle cells was evaluated by immunohistochemical staining. Results: Of the 17 patients, 9 were males and 8 were females. The age ranged from 3 to 56 years old. Thirteen patients presented with seizure as the initial symptom. The lesions were solitary and located in the cerebral cortex. Histopathologically, there were proliferation of small blood vessels and perivascular spindle cells in the cerebral cortex. The spindle cells had no obvious atypia, mitoses and necrosis. Four cases were combined with transitional meningioma. Immunohistochemically, the proliferative perivascular spindle cells were positive for vimentin in all cases, and focally positive for EMA and SSTR2. Ki-67 proliferation index was low. Neurofibrillary tangles were demonstrated by AT8. All 17 patients received surgical treatment and were followed up for one to 93 months. None had seizure attacks or tumor recurrence. Conclusions: MA is a rare slow-growing intracranial lesion, and the perivascular spindle cells could be derived from meningothelial cells, and MA is often associated with degeneration of the cerebral cortex and meningioma. The patients have good prognosis after surgical treatment.

[Dynamic changes of axial length, corneal refractive power, and refractive state after cataract surgery in infants].

Objective: To investigate the changes of axial length, corneal refractive power, and refractive state in infants with congenital cataract surgery. Methods: Retrospective cohort study. Medical records of 103 patients who underwent congenital cataract surgery in the Eye Hospital of Wenzhou Medical University Hangzhou Branch from January 1, 2015 to December 31, 2018 were reviewed. There were 61 boys and 42 girls in the study. The mean age at the surgery of 103 congenital cataract patients was (3.95±1.94) months. In patients receiving bilateral cataract surgery, only the left eye was selected for analysis. The patients were followed up for at least 1 year. The patients were divided into the groups of <4 months old and 4-12 months old according to the age at cataract surgery. The change in the axial length, corneal refractive power, and refractive state of each patient at 1 year after surgery was analyzed. Independent sample t-test, one way variance analysis and simple linear regression were used for statistical analysis. Results: There were 71 cases of bilateral cataract, including 33 in the group of <4 months old and 38 in the group of 4-12 months old, and 32 cases of unilateral cataract, including 17 in the group of <4 months old and 15 in the group of 4-12 months old. The change in the axial length of bilateral cataract children in the <4-month-old group was (2.46±1.33) mm at 1 year after surgery, which was greater than (1.52± 1.00) mm in the group of 4-12 months old (t=3.21; P<0.01). In the same surgery age group, there was no significant difference in the change of axial length among bilateral cataract eyes, unilateral cataract eyes and the contralateral eyes at 1 year after surgery (both P>0.05). One year after surgery, the axial length of the eyes in patients with bilateral cataract, the affected eyes and the fellow eyes in patients with unilateral cataract all was highly correlated with the logarithm of the actual age (r=0.68, 0.52, 0.73; all P<0.01). The corneal refractive power showed a decreased trend with the increase of age. The change in the corneal refractive power of the bilateral cataract children in the <4-month-old group at 1 year after surgery was (1.43±2.87) D, and in the group of 4-12 months old was (0.68±2.10) D, but the difference was not statistically significant (P>0.05). The chang in spherical equivalent of bilateral cataract children was (2.02±2.60) D in the <4-month-old group, greater than that in the group of 4-12 months old [(0.69±1.89) D; t=2.15; P<0.05]. The change of spherical equivalent one year after surgery in 4-12 months group, unilateral cataract eyes was significantly greater than that of bilateral cataract eyes [(2.05±0.95) D vs. (0.69±1.89) D; t=2.49; P<0.05]. The spherical equivalent of both bilateral and unilateral cataract children was highly correlated with the actual age (r=-0.51, -0.54; both P<0.01). Conclusions: The axial length is increased, the corneal refractive power is decreased, and the spherical equivalent is decreased at 1 year after surgery for congenital cataract in infants. The younger the age at cataract surgery, the greater the change in the axial length, myopia drift, and corneal refractive power. (Chin J Ophthalmol, 2021, 57: 34-40).

[Comparison of the accuracy of intraocular lens power calculation formulas based on the new swept-source optical coherence tomography biometry].

Objective: To compare the accuracy of 6 intraocular lens power calculation formulas based on the new swept-source optical coherence tomography biometry and to analyze the prediction error. Methods: Retrospective case series study. Clinical data were collected from 599 patients (599 eyes) who had underwent uncomplicated phacoemulsification and the IOLMaster 700 examination at the Eye Hospital of Wenzhou Medical University between November 2018 and November 2019. Among the patients, there were 208 males and 391 females with an age of (69±10) years. According to the axial length (AL), eyes were divided into the short AL group (≤22.5 mm, n=100), the normal AL group (>22.5 mm and<25.5 mm, n=375); and the long AL group (≥25.5 mm, n=124). Eyes were also grouped based on the mean keratometry (Km) as flat (≤42.00 D, n=47), normal (>42.00 D to<46.00 D, n=461), and steep (≥46.00 D, n=91), and by anterior chamber depth (ACD) as shallow (≤2.5 mm, n=71), normal (>2.5 mm to<3.5 mm, n=436), and deep (≥3.5 mm, n=92). The median absolute errors (MedAEs) of the Barrett Universal Ⅱ, Haigis, Hoffer Q, Holladay Ⅰ, Holladay Ⅱ, and SRK/T formulas in different AL, Km, and ACD groups were compared using the Friedman test. Results: The differences in MedAE among the 6 formulas of 599 patients (599 eyes) were statistically significant (χ²=120.549, P<0.001). The MedAE of the Barrett Universal Ⅱ formula was smallest (0.35 D), followed by the SRK/T formula (0.36 D). There was no significant difference between the MedAEs of the Barrett universal Ⅱ and Haigis, SRK/T formula (all P=1.000), but there were statistically significant differences among the other formulas (all P<0.01). In different AL groups, the MedAE of each formula was statistically different (χ²=38.307, 38.779, 112.997; all P<0.01).The Barrett Universal Ⅱ formula resulted in the lowest MedAE in the short AL group (0.40 D) and the long AL group (0.31 D). The MedAE of the SRK/T in the normal AL group was lowest (0.35 D). The 6 formulas showed significant differences in MedAE values in different Km groups (χ²=12.284, 90.924, 39.387; all P<0.05).The Haigis formula achieved the lowest MedAE in the flat Km group (0.26 D) and the steep Km group (0.34 D). The Barrett UniversalⅡ formula achieved the lowest MedAE in the normal Km group (0.33 D). The differences in MedAE values of the 6 formulas in different ACD groups were statistically significant (χ²=37.389, 57.643, 52.845; all P<0.01), and the MedAE values of the Barrett Universal Ⅱ in different ACD groups were smallest (0.46, 0.33, 0.31 D). Conclusions: The Barrett Universal Ⅱ formula perform the best over the entire AL range, followed by the Haigis and SRK/T formulas. The Barrett Universal Ⅱ formula result in the lowest prediction error in the short AL group, the long AL group, and all ACD groups. The Haigis formula may be more accurate when the Km was ≤42.00 D or ≥46.00 D. (Chin J Ophthalmol, 2021, 57: 502-511).

First-principles investigation of a new 2D magnetic crystal: Ferromagnetic ordering and intrinsic half-metallicity.

The development of two-dimensional (2D) magnetic materials with half-metallic characteristics is of great interest because of their promising applications in spintronic devices with high circuit integration density and low energy consumption. Here, by using density functional theory calculations, ab initio molecular dynamics, and Monte Carlo simulation, we study the stability, electronic structure, and magnetic properties of a OsI3 monolayer, of which crystalline bulk is predicted to be a van der Waals layered ferromagnetic (FM) semiconductor. Our results reveal that the OsI3 monolayer can be easily exfoliated from the bulk phase with small cleavage energy and is energetically and thermodynamically stable at room temperature. Intrinsic half-metallicity with a wide bandgap and FM ordering with an estimated TC = 35 K are found for the OsI3 monolayer. Specifically, the FM ordering can be maintained under external biaxial strain from -2% to 5%. The in-plane magnetocrystalline anisotropy energy of the 2D OsI3 monolayer reaches up to 3.89 meV/OsI3, which is an order larger than that of most magnetic 2D materials such as the representative monolayer CrI3. The excellent magnetic features of the OsI3 monolayer therefore render it a promising 2D candidate for spintronic applications.

[Surgical treatment of patients with hilar cholangiocarcinoma in a single center].

Objective: To study the experience of preoperative evaluation, surgical planning and postoperative treatment of hilar cholangiocarcinoma (HCC) in our center. Method: The clinical data of 70 patients with HCC who underwent resection at the First Affiliated Hospital of Bengbu Medical College, from January 2011 to December 2017 were analyzed retrospectively. The treatment experience of HCC from the aspects of preoperative evaluation and treatment, surgical methods, postoperative recovery and prognosis were discussed. Results: The accurate evaluation of HCC by three-dimensional visualization technology was beneficial to the formulation of surgical plan preoperatively. Extended hemihepatectomy or combined resection of caudate lobe or portal vein was effective for type Ⅲ-Ⅳ HCC. The R0 resection rate was 93% (53/57). Postoperative pathology showed that high/middle/low differentiated adenocarcinoma of 21/30/16, adenoma in 2 cases, inflammatory lesion in 1 case. The 1/3/5-year overall survival rates of patients with adenocarcinoma after chemotherapy were 87%(60/69)/47.0%(31/66)/30.2%(19/63) respectively. Conclusion: HCC patients who under radical surgery after preoperative evaluation and postoperative chemotherapy can obtain a good prognosis. Expanding hepatectomy can improve R0 resection rate and prognosis in patients with type Ⅲ-Ⅳ HCC.

[Effects of preoperative percutaneous transhepatic biliary drainage on surgical treatment of type â ¢ and â £ hilar cholangiocarcinoma].

Objective: To investigate the effects of preoperative percutaneous transhepatic biliary drainage on surgical treatment of type Ⅲ and Ⅳ hilar cholangiocarcinoma. Methods: Clinical data of 72 patients with hilar cholangiocarcinoma of the Bismuth-Corlette type Ⅲ and Ⅳ treated at Department of General Surgery,First Affiliated Hospital of Bengbu Medical College from January 2010 to December 2017 were analyzed retrospectively.Patients were divided into two groups based on whether PTBD was performed:a drained group and an undrained group.In the drained group,there were 31 patients,20 males and 11 females,aged (59.9±9.7)years (range: 39-73 years).Among them,14 patients underwent hepatectomy with half or more than half of the liver removed (extended hepatectomy)and 17 patients underwent non-anatomical hepatectomy in the hilar region (limited hepatectomy).In the undrained group,there were 41 patients, 26 males and 15 females, aged (60.8±7.8)years(range: 45-75 years).Among them, 17 patients underwent hepatectomy with half or more than half of the liver removed (extended hepatectomy)and 24 patients underwent non-anatomical hepatectomy in the hilar region (limited hepatectomy).Percutaneous transhepatic biliary drainage(PTBD)was used in the drained group.Under the guidance of ultrasound,one or more hepatobiliary ducts could be sufficiently drained,which had good effect and was not restricted by the obstruction location of hilar cholangiocarcinoma.The analysis of the measurement data was performed using t test,and the analysis of the count data was performed using χ(2) test,and the survival curve was plotted using Kaplan-meier method. Results: In total, 72 jaundiced patients with hilar cholangiocarcinoma underwent surgical treatment: 31 had PTBD prior to operation while 41 did not had PTBD.There were significant differences in ALT((93.2±21.4)U/L vs.(207.4±65.1)U/L),AST((87.6±18.1)U/L vs.(188.9±56.6)U/L)and total bilirubin((68.8±12.6)µmol/L vs.(227.5±87.7)µmol/L)between the patients after treatment and those before treatment(t=10.958, P=0.000; t=10.845, P=0.000; t=10.386, P=0.000).Compared with those in the undrained group, the operation time was shorter, the amount of intraoperative bleeding and the incidence of complications were lower in the drained group(t=-2.840, P=0.006; t=-3.698, P=0.000; χ(2)=4.108, P=0.043).There were no perioperative death cases in drained group and 2 perioperative death cases in undrained group.There was no significant difference in R0 resection rate between the two groups(χ(2)=0.778,P=0.378).The 1-,3-,5-year survival rate of patients in the drained group and the undrained group was 72.7%,34.2%, 13.7% and 72.8%, 31.5%, 11.8%, respectively.The difference was not statistically significant(all P>0.05). Conclusions: The preoperative percutaneous transhepatic biliary drainage in patients with hilar cholangiocarcinoma of Bismuth-Corlette type Ⅲ and Ⅳ could effectively shorten operative time, reduce amount of intraoperative bleeding and incidence of postoperative complications,but have no significant effect on the R0 resection rate and survival rate.

Population pharmacokinetics of tacrolimus in paediatric systemic lupus erythematosus based on real-world study.

WHAT IS KNOWN AND OBJECTIVES: Different population pharmacokinetics (PPK) models of tacrolimus have been established in various populations. However, the tacrolimus PPK model in paediatric systemic lupus erythematosus (PSLE) is still undefined. This study aimed to establish the tacrolimus PPK model in Chinese PSLE. METHODS: A total of nineteen Chinese patients with PSLE from real-world study were characterized with nonlinear mixed-effects modelling (NONMEM). The impact of demographic features, biological characteristics, and concomitant medications was evaluated. Model validation was assessed by bootstrap and prediction-corrected visual predictive check (VPC). RESULTS: A one-compartment model with first-order absorption and elimination was determined to be the most suitable model in PSLE. The typical values of apparent oral clearance (CL/F) and the apparent volume of distribution (V/F) in the final model were 2.05 L/h and 309 L, respectively. Methylprednisolone and simvastatin were included as significant. WHAT IS NEW AND CONCLUSION: The first validated tacrolimus PPK model in patients with PSLE is presented.

Effects of dietary leucine and phenylalanine on pancreas development, enzyme activity, and relative gene expression in milk-fed Holstein dairy calves.

This study aimed to investigate the effect of dietary supplementation with leucine and phenylalanine on pancreas development, enzyme activity, and related gene expression in male Holstein calves. Twenty male Holstein calves [1 d of age, 38 ± 3 kg of body weight (BW)] were randomly assigned to 1 of the following 4 treatment groups with 5 calves in each group: control, leucine supplementation (1.435 g/L of milk), phenylalanine supplementation (0.725 g/L of milk), and leucine and phenylalanine (1.435 + 0.725 g/L of milk). The diets were made isonitrogenous with the inclusion of alanine in each respective treatment. The feeding trial lasted for 8 wk, including 1 wk for adaption and 7 wk for the feeding experiment. Leucine tended to increase the concentration of total pancreatic protein (mg/kg of BW). Phenylalanine increased the concentrations of plasma insulin, cholecystokinin, and pancreatic DNA (mg/g) and the expression of trypsin gene but decreased the pancreatic protein:DNA ratio and tended to decrease the pancreas weight (g/kg of BW). No differences were observed in total pancreatic DNA (mg/pancreas and mg/kg of BW), pancreatic protein (mg/pancreas), or activities of α-amylase, trypsin, and lipase. The relative expression levels of the genes encoding α-amylase and lipase did not differ among the 4 groups. The supplementation of both leucine and phenylalanine showed an interaction on the pancreas weight (g and g/kg of BW) and a tendency of an interaction on the pancreatic protein concentration (mg/g of pancreas and mg/kg of BW) and the plasma glucose concentration. Leucine tended to increase the size of the pancreatic cells, whereas phenylalanine tended to increase the number of pancreatic cells. However, neither AA affected the activities of the pancreatic enzymes of the calves. These results indicate that leucine and phenylalanine supplementation in milk-fed Holstein calves differentially affect pancreatic growth and development.

[Association between ADAMTS14 gene polymorphism and the temporomandibular joint osteoarthritis in Chinese Han females].

OBJECTIVE: To investigate the association between single nucleotide polymorphisms (SNP) of ADAMTS14 gene rs4747096 and osteoarthritis of the temporomandibular joint in Chinese Han females. METHODS: As a case-control study, a total of 213 Chinese Han females were involved in the present study, which contained 103 temporomandibular joint osteoarthritis patients and 110 healthy people who had no symptoms or signs of temporomandibular joint osteoarthritis as control. Peripheral blood samples were collected from each participant. Genomic DNAs of temporomandibular joint osteoarthritis patients and healthy control were extracted from peripheral venous blood, which were stored in -80 °C refrigerator by using DNA extraction kits. The designed primers were used for polymerase chain reaction (PCR) amplification of specific DNA fragments. Genotype was determined by sequencing the PCR products. The software Chromas 2.22 was used to analyze the genotype. The genotype distributions, allele frequencies and genetic models between the patients and controls were compared. The age distribution was checked by t-test. Genotype and allele frequency were detected by Chi-square test. RESULTS: In the present study, there were no significant differences between the osteoarthritis patients and healthy controls in terms of age. The genotype distribution was in accordance with Hardy-Weinberg equilibrium in the two groups. The genotype frequency of the ADAMTS14 (rs4747096) in the experimental group was 38.8% (AA), 55.4% (AG), and 5.8% (GG), respectively. The genotype frequency in the control group was 40.9% (AA), 43.6% (AG), and 15.5% (GG), respectively. The difference of genotype frequency of the ADAMTS14 (rs4747096) was significant between the experimental group and the control group (P=0.047). There was no significant difference in allele frequency between the two groups (P=0.415). AA and AG genotypes significantly increased the risk of the disease compared with GG in dominant model (OR=1.114, 95% CI: 1.015-1.223, P=0.028). CONCLUSION: A significant correlationship was found between the ADAMTS14 (rs4747096) SNP and the temporomandibular joint osteoarthritis in Chinese Han females. The distribution of rs4747096 may be different between temporomandibular joint osteoarthritis and healthy population.

[The correlation between the cell density of local advanced lung cancer tumor and the ADC value of 3.0 T MRI diffusion weighted imaging].

Objective: To investigate the correlation between tumorous cellular density (TCD) and apparent diffusion coefficient (ADC) of 3.0 T magnetic resonance diffusion weighted imaging (DWI) in local advanced lung cancer. Methods: From January 2015 to December 2017, a total of 59 patients with locally advanced lung cancer confirmed by pathology in Shaoxing People's Hospital who underwent DWI by 3.0 T magnetic resonance imaging were included.The ADC and TCD values of tumor were measured. The difference and correlation between ADC value and TCD in lung cancer were analyzed. Results: Among 59 lung cancer cases who were examined with DWI, 45 cases of TCD were obtained. Statistical analysis showed that the ADC value of small cell lung cancer (SCLC) was significantly higher than that of squamous cell carcinoma (P=0.011)and adenocarcinoma (P=0.004). TCD of small cell carcinoma was significantly higher than that of squamous cell carcinoma (P=0.007) and adenocarcinoma (P<0.01). There was no statistical difference in ADC value and TCD between squamous cell carcinoma and adenocarcinoma (all P>0.05). There was negative correlation between the ADC value and TCD in lung cancer (P=0.001, r=-0.534). Conclusions: DWI is not only beneficial to distinguish SCLC from squamous cell carcinoma and adenocarcinoma, but also can indirectly reflect the tumorous cellular density.It can provide a basis for monitoring the therapeutic effect of clinical lung cancer.

Influence of glucose metabolism on cognitive function of patients with acute small-artery occlusion.

The aim of this study was to evaluate the influence of abnormal glucose metabolism on cognitive function of patients with acute small-arterial occlusion (SAO). The present study included 1,211 patients, with small-artery occlusion according to the Trial of Org 10172 in acute stroke treatment (TOAST) classification, admitted between March 2014 and December 2016 to The Second Hospital of Jiaxing. According to cognitive function, the patients were divided into a group of normal cognitive function, a mild cognitive impairment group (MCI group) and a dementia group. The patients were also divided into normal a blood sugar group, an impaired glucose regulation group (IGR group) and a diabetes mellitus (DM) group based on glucose metabolism. Cognitive functions of patients in the different glucose metabolism groups were compared based on Mini-mental State Examination (MMSE) and Montreal Cognitive Assessment (MoCA). General data, medical history, neuropsychological assessment and haematological index of the patients in each group were analyzed. Logistic regression analysis was used to study independent risk factors influencing cognitive impairment. When comparing the group of normal cognitive function with the MCI group, there were no statistical significant differences between the MMSEs scores of patients among the three groups, but the difference in MoCAs scores had statistical significance. Hypertension history, hyperhomocysteinemia (Hhcy) and sedentariness were independent risk factors for SAO patients with MCI. When comparing the group of normal cognitive function with the dementia group, there were statistically significant differences (P<0.05) between the MMSE and MoCA scores of patients among the three groups. Abnormal glucose metabolism, old age, female, high blood pressure, Hhcy, family stroke history and sedentariness were independent risk factors for SAO patients with dementia. In conclusion, abnormal glucose metabolism impairing cognitive function is not an independent risk factor for SAO patients with MCI, but is an independent risk factor for SAO patients with dementia.

[Diagnostic and prognostic roles of loss of CIC protein expression in oligodendroglial tumors].

Objective: To investigate the usefulness of loss of CIC expression as the prescreening detection of 1p/19q co-deletion in the diagnosis of oligodendroglial tumors and its prognostic implication. Methods: The retrospective study included 113 oligodendroglial tumors diagnosed in the Department of Pathology, Xuanwu Hospital, Capital Medical University. Expression of CIC protein was detected by immunohistochemistry, and the 1p/19q co-deletion by fluorescence in situ hybridization in all the tumors; and the correlation of the loss of protein and 1p/19q co-deletion with prognosis was assessed. Results: The rate of negative CIC protein expression was 59.3% (67/113) in 113 oligodendroglial tumors. CIC protein expression was differentially lost in various gliomas, 85.7% (42/49) in pure oligodendrogliomas and 39.1% (25/64) in mixed oligodendroglial tumors (P<0.01). The loss of CIC protein expression showed a sensitivity of 76.1% (54/71), specificity 71.1% (27/38), false positive rate of 16.9% (11/65), and a false negative rate of 38.6% (17/44). In 63 cases integrated diagnosis as oligodendroglial tumors with mutant IDH and 1p/19q co-deletion, the loss of CIC protein expression was 81.0% (51/63); the sensitivity and specificity were increased to 81.0% (51/63) and 76.9% (20/26), and the false positive rate and false negative rate decreased to 10.5% (6/57) and 37.5% (12/32), respectively. By using Kaplan-Meier analysis, the CIC negative group showed a trend towards better outcome than the CIC positive group, but there was no statistical difference (overall survival: P=0.218; progression free survival: P=0.249). Conclusions: Detection of the lost CIC protein expression can predict the chromosome 1p/19q co-deletion. In oligodendroglial tumors with IDH mutant and 1p/19q co-deletion, there is no relation between prognosis and CIC protein expression.

[Application of ATRX in diagnosis and prognostic evaluation of glioma].

Objective: To investigate the diagnostic and prognostic implications of ATRX mutation and p53 mutation in patients with glioma. Methods: The clinicopathologic and molecular features of Chinese adult glioma patients, including diffuse and anaplastic astroastrocytoma with IDH mutation, oligodendroglioma and anaplastic oligodendroglioma with IDH mutation and 1p/19q co-deletion and diffuse astroastrocytoma with IDH wild type were reviewed and tested for ATRX loss expression and p53 overexpression. Results: Loss of ATRX expression was seen in 85.19% (23/27) diffuse and anaplastic astroastrocytoma with IDH mutation, higher than that of oligodendroglial tumors (0/53; P<0.01). Loss of ATRX expression was strongly linked to p53 overexpression(69.57%, 16/23). The patients who lost ATRX expression combined with normal p53 expression survived longer(P=0.013). Conclusions: ATRX mutation is a molecular marker for astrocytic tumors. ATRX mutation combined with p53 mutation can predict prognosis of patients with glioma.

Calcium plus vitamin D supplementation and risk of fractures: an updated meta-analysis from the National Osteoporosis Foundation.

UNLABELLED: The aim was to meta-analyze randomized controlled trials of calcium plus vitamin D supplementation and fracture prevention. Meta-analysis showed a significant 15 % reduced risk of total fractures (summary relative risk estimate [SRRE], 0.85; 95 % confidence interval [CI], 0.73-0.98) and a 30 % reduced risk of hip fractures (SRRE, 0.70; 95 % CI, 0.56-0.87). INTRODUCTION: Calcium plus vitamin D supplementation has been widely recommended to prevent osteoporosis and subsequent fractures; however, considerable controversy exists regarding the association of such supplementation and fracture risk. The aim was to conduct a meta-analysis of randomized controlled trials [RCTs] of calcium plus vitamin D supplementation and fracture prevention in adults. METHODS: A PubMed literature search was conducted for the period from July 1, 2011 through July 31, 2015. RCTs reporting the effect of calcium plus vitamin D supplementation on fracture incidence were selected from English-language studies. Qualitative and quantitative information was extracted; random-effects meta-analyses were conducted to generate summary relative risk estimates (SRREs) for total and hip fractures. Statistical heterogeneity was assessed using Cochran's Q test and the I (2) statistic, and potential for publication bias was assessed. RESULTS: Of the citations retrieved, eight studies including 30,970 participants met criteria for inclusion in the primary analysis, reporting 195 hip fractures and 2231 total fractures. Meta-analysis of all studies showed that calcium plus vitamin D supplementation produced a statistically significant 15 % reduced risk of total fractures (SRRE, 0.85; 95 % confidence interval [CI], 0.73-0.98) and a 30 % reduced risk of hip fractures (SRRE, 0.70; 95 % CI, 0.56-0.87). Numerous sensitivity and subgroup analyses produced similar summary associations. A limitation is that this study utilized data from subgroup analysis of the Women's Health Initiative. CONCLUSIONS: This meta-analysis of RCTs supports the use of calcium plus vitamin D supplements as an intervention for fracture risk reduction in both community-dwelling and institutionalized middle-aged to older adults.