肩峰折角的解剖学分型及临床意义

目的 探讨基于CT三维重建的肩峰折角形态学分型及测量分析.方法 收集278例成年人CT三维重建肩胛骨形态数据,分析不同类型间测量数据的差异,明确其统计学意义,总结其形态学特点进行肩峰折角分型,探讨其在肩峰下撞击综合征诊治中的意义.结果 本研究将肩峰折角分为3型(C型、L型和双角型).其中L型最多,占48.56％,其次为...     

Correlation between the four types of acromion and the existence of enthesophytes: a study on 423 dried scapulas and review of the literature

The purpose of this study was to correlate the four types of acromial shape with the existence of enthesophytes, which together comprise two important parameters for subacromial impingement syndrome and rotator cuff tears. In addition, a review of the literature was carried out. Four hundred twenty-three dried scapulas were studied at the Department of Anatomy in the University of Cologne, Germany. Four types of acromion were found: the three classical ones as described by Bigliani et al. ([1986] Orthop Trans 10:216) and a fourth one, where the middle third of the undersurface of acromion was convex (Gagey et al. [1993] Surg Radiol Anat 15:63-70). The correlation between the four types of acromion and the presence of enthesophytes at its anterior undersurface was also recorded. The distribution of acromial types was as follows: type I, flat, 51 (12.1%); type II, curved, 239 (56.5%); type III, hooked, 122 (28.8%); and type IV, convex, 11 (2.6%). Enthesophytes were found in 1 of type I (2%), in 19 of type II (7.9%), in 46 of type III (37.7%), and in 0 (0%) of type IV acromions. Overall, 66 (15.6%) out of 423 scapulas had enthesophytes. In all cases, they were localized at the site of the coracoacromial ligament insertion on the acromion. Enthesophytes were significantly (P < 0.05) more common in type III acromions and this combination is particularly associated with subacromial impingement syndrome and rotator cuff tears. In type I and in type IV acromions, the incidence of enthesophytes is very small and, according to other studies, with these two acromial types rotator cuff tears are also rare.     

Localized Rotator Cuff Tendon Degeneration for Cadaveric Shoulders with and Without Tears Isolated to the Supraspinatus Tendon

Localized differences in tissue degeneration throughout intact and torn rotator cuff tendons have not been well quantified. The objective of this study was to investigate histological differences in localized degeneration in tendons with and without rotator cuff tears isolated to the supraspinatus tendon. Four intact shoulders and four shoulders with rotator cuff tears isolated to the supraspinatus tendon were dissected down to the infraspinatus and supraspinatus tendons. Biopsies were taken throughout the tendon insertion, mid-substance, myotendinous junction, and around the tear if present. Samples were stained with hematoxylin and eosin and tendon degeneration was graded based on collagen fiber organization, nuclei shape, cellularity, and lipoid degeneration. Comparisons in degeneration parameters were made based on the tendon type (supraspinatus vs. infraspinatus), location within the tendon, and presence of a tear. Supraspinatus tendons exhibited more degeneration than the infraspinatus tendon (P < 0.05). Significant increases in lipoid degeneration were found near the myotendinous junction compared to the rest of the tendon (P < 0.001). Tendons with rotator cuff tears showed greater amounts of lipoid degeneration compared to intact tendons (P = 0.03). A strong negative correlation was found between lipoid degeneration and collagen fiber organization (r = −0.922, P = 0.001). No differences in degeneration were found between medial, anterior, and posterior edges of the tear. The study highlights specific factors of tendon degeneration contributing to the local differences in tendon degeneration. By understanding local differences in tendon degeneration, surgical protocols for repair can be improved. Clin. Anat., 33:1007–1013, 2020. © 2019 Wiley Periodicals, Inc.     

The prevalence of os acromiale: A systematic review and meta‐analysis

Os acromiale (OA) results from a failure of consolidation between the ossification centers of the acromial epiphysis. Its prevalence and its interactions with ancestry, gender, laterality, and side have been variously reported in the literature. The aims of this review are to provide an accurate estimate of OA prevalence and to investigate its association with other variables in an attempt to comprehend its etiology. Twenty‐three studies met the inclusion criteria. The results of meta‐analyses of large‐sample studies revealed: (a) a crude overall prevalence of 7.0%, (b) a crude cadaveric prevalence of 7.6%, (c) a crude archeological (skeletal) prevalence of 5.6%, (d) a crude radiological prevalence of 4.2%, (e) a true anatomical prevalence of 9.6%, (f) a significantly higher frequency in persons of black ancestry than in persons of white, Native American and Middle Eastern ancestries (OR ≈ 3), (g) significantly higher unilateral and bilateral frequencies in black ancestry (OR of 2 and 4, respectively), (h) nonsignificant interactions of OA frequency with gender and side. The commonest type of OA was the meso‐acromion type (76.6%). Degenerative changes were present in 66.6% of OAs. The results of this evidence‐based anatomical review support a genetic basis for OA rather than the mechanical trauma‐induction hypothesis. Clin. Anat. 610–621, 2014. © 2013 Wiley Periodicals, Inc.     

Common obesity risk alleles in childhood attention‐deficit/hyperactivity disorder

Children with attention‐deficit/hyperactivity disorder (ADHD) have a higher rate of obesity than children without ADHD. Obesity risk alleles may overlap with those relevant for ADHD. We examined whether risk alleles for an increased body mass index (BMI) are associated with ADHD and related quantitative traits (inattention and hyperactivity/impulsivity). We screened 32 obesity risk alleles of single nucleotide polymorphisms (SNPs) in a genome‐wide association study (GWAS) for ADHD based on 495 patients and 1,300 population‐based controls and performed in silico analyses of the SNPs in an ADHD meta‐analysis comprising 2,064 trios, 896 independent cases, and 2,455 controls. In the German sample rs206936 in the NUDT3 gene (nudix; nucleoside diphosphate linked moiety X‐type motif 3) was associated with ADHD risk (OR: 1.39; P = 3.4 × 10^?4; P_corr = 0.01). In the meta‐analysis data we found rs6497416 in the intronic region of the GPRC5B gene (G protein‐coupled receptor, family C, group 5, member B; P = 7.2 × 10^?4; P_corr = 0.02) as a risk allele for ADHD. GPRC5B belongs to the metabotropic glutamate receptor family, which has been implicated in the etiology of ADHD. In the German sample rs206936 (NUDT3) and rs10938397 in the glucosamine‐6‐phosphate deaminase 2 gene (GNPDA2) were associated with inattention, whereas markers in the mitogen‐activated protein kinase 5 gene (MAP2K5) and in the cell adhesion molecule 2 gene (CADM2) were associated with hyperactivity. In the meta‐analysis data, MAP2K5 was associated with inattention, GPRC5B with hyperactivity/impulsivity and inattention and CADM2 with hyperactivity/impulsivity. Our results justify further research on the elucidation of the common genetic background of ADHD and obesity. © 2013 Wiley Periodicals, Inc.     

Genetic Variation in the Peroxisome Proliferator‐Activated Receptor (PPAR) and Peroxisome Proliferator‐Activated Receptor Gamma Co‐activator 1 (PGC1) Gene Families and Type 2 Diabetes

We used a two‐stage study design to evaluate whether variations in the peroxisome proliferator‐activated receptors (PPAR) and the PPAR gamma co‐activator 1 (PGC1) gene families (PPARA, PPARG, PPARD, PPARGC1A, and PPARGC1B) are associated with type 2 diabetes (T2D) risk. Stage I used data from a genome‐wide association study (GWAS) from Shanghai, China (1019 T2D cases and 1709 controls) and from a meta‐analysis of data from the Asian Genetic Epidemiology Network for T2D (AGEN‐T2D). Criteria for selection of single nucleotide polymorphisms (SNPs) for stage II were: (1) P < 0.05 in single marker analysis in Shanghai GWAS and P < 0.05 in the meta‐analysis or (2) P < 10^?3 in the meta‐analysis alone and (3) minor allele frequency ≥ 0.10. Nine SNPs from the PGC1 family were assessed in stage II (an independent set of middle‐aged men and women from Shanghai with 1700 T2D cases and 1647 controls). One SNP in PPARGC1B, rs251464, was replicated in stage II (OR = 0.87; 95% CI: 0.77–0.99). Gene‐body mass index (BMI) and gene–exercise interactions and T2D risk were evaluated in a combined dataset (Shanghai GWAS and stage II data: 2719 cases and 3356 controls). One SNP in PPARGC1A, rs12640088, had a significant interaction with BMI. No interactions between the PPARGC1B gene and BMI or exercise were observed.     

No association of genetic variants in BDNF with major depression: A meta‐ and gene‐based analysis

Major depressive disorder (MDD) is a complex psychiatric condition with strong genetic predisposition. The association of MDD with genetic polymorphisms, such as Val66Met (rs6265), in the brain derived neurotrophic factor (BDNF), have been reported in many studies and the results were conflicting. In this study, we performed a systematic literature search and conducted random‐effects meta‐analysis to evaluate genetic variants in BDNF with MDD. A gene‐based analysis was also conducted to investigate the cumulative effects of genetic polymorphisms in BDNF. A total of 28 studies from 26 published articles were included in our analysis. Meta‐analysis yielded an estimated odds ratio (OR) of 0.96 (95% CI: 0.89–1.05; P = 0.402) for Val66Met (rs6265), 0.83 (95% CI: 0.67–1.04; P = 0.103) for 11757C/G, 1.16 (95% CI: 0.74–1.82; P = 0.527) for 270T/C, 1.03 (95% CI: 0.18–5.75; P = 0.974) for 712A/G and 0.98 (95% CI: 0.85–1.14; P = 0.831) for rs988748. The gene‐based analysis indicated that BDNF is not associated with MDD (P > 0.21). Our updated meta‐ and novel gene‐based analyses provide no evidence of the association of BDNF with major depression. © 2012 Wiley Periodicals, Inc.     

Hepatocellular carcinoma‐associated single‐nucleotide variants and deletions identified by the use of genome‐wide high‐throughput analysis of hepatitis B virus

This study investigated hepatitis B virus (HBV) single‐nucleotide variants (SNVs) and deletion mutations linked with hepatocellular carcinoma (HCC). Ninety‐three HCC patients and 108 non‐HCC patients were enrolled for HBV genome‐wide next‐generation sequencing (NGS) analysis. A systematic literature review and a meta‐analysis were performed to validate NGS‐defined HCC‐associated SNVs and deletions. The experimental results identified 60 NGS‐defined HCC‐associated SNVs, including 41 novel SNVs, and their pathogenic frequencies. Each SNV was specific for either genotype B (n = 24) or genotype C (n = 34), except for nt53C, which was present in both genotypes. The pathogenic frequencies of these HCC‐associated SNVs showed a distinct U‐shaped distribution pattern. According to the meta‐analysis and literature review, 167 HBV variants from 109 publications were categorized into four levels (A–D) of supporting evidence that they are associated with HCC. The proportion of NGS‐defined HCC‐associated SNVs among these HBV variants declined significantly from 75% of 12 HCC‐associated variants by meta‐analysis (Level A) to 0% of 10 HCC‐unassociated variants by meta‐analysis (Level D) (P < 0.0001). PreS deletions were significantly associated with HCC, in terms of deletion index, for both genotypes B (P = 0.030) and C (P = 0.049). For genotype C, preS deletions involving a specific fragment (nt2977–3013) were significantly associated with HCC (HCC versus non‐HCC, 6/34 versus 0/32, P = 0.025). Meta‐analysis of preS deletions showed significant association with HCC (summary odds ratio 3.0; 95% confidence interval 2.3–3.9). Transfection of Huh7 cells showed that all of the five novel NGS‐defined HCC‐associated SNVs in the small surface region influenced hepatocarcinogenesis pathways, including endoplasmic reticulum‐stress and DNA repair systems, as shown by microarray, real‐time polymerase chain reaction and western blot analysis. Their carcinogenic mechanisms are worthy of further research. Copyright © 2017 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.     

Meta‐analysis of association between obsessive‐compulsive disorder and the 3′ region of neuronal glutamate transporter gene SLC1A1

The neuronal glutamate transporter gene SLC1A1 is a candidate gene for obsessive‐compulsive disorder (OCD) based on linkage studies and convergent evidence implicating glutamate in OCD etiology. The 3′ end of SLC1A1 is the only genomic region with consistently demonstrated OCD association, especially when analyzing male‐only probands. However, specific allele associations have not been consistently replicated, and recent OCD genome‐wide association and meta‐analysis studies have not incorporated all previously associated SLC1A1 SNPs. To clarify the nature of association between SLC1A1 and OCD, pooled analysis was performed on all available relevant raw study data, comprising a final sample of 815 trios, 306 cases and 634 controls. This revealed weak association between OCD and one of nine tested SLC1A1 polymorphisms (rs301443; uncorrected P = 0.046; non‐significant corrected P). Secondary analyses of male‐affecteds only (N = 358 trios and 133 cases) demonstrated modest association between OCD and a different SNP (rs12682807; uncorrected P = 0.012; non‐significant corrected P). Findings of this meta‐analysis are consistent with the trend of previous candidate gene studies in psychiatry and do not clarify the putative role of SLC1A1 in OCD pathophysiology. Nonetheless, it may be important to further examine the potential associations demonstrated in this amalgamated sample, especially since the SNPs with modest associations were not included in the more highly powered recent GWAS or in a past meta‐analysis including five SLC1A1 polymorphisms. This study underscores the need for much larger sample sizes in future genetic association studies and suggests that next‐generation sequencing may be beneficial in examining the potential role of rare variants in OCD. © 2013 Wiley Periodicals, Inc.     

Association between the Interleukin‐6 Gene −572 C/G Polymorphism and the Risk of Type 2 Diabetes Mellitus: A Meta‐Analysis of 11,681 Subjects

The association between the interleukin‐6 (IL‐6) gene ?572 C/G (rs1800796) polymorphism and type 2 diabetes mellitus (T2DM) risk remains controversial. Thus, we performed this meta‐analysis by searching PubMed, Embase, Web of Science, CBMdisc and CNKI databases until January 30, 2012. In addition, hand searching of the references of identified articles was performed. A total of 10 case–control studies including 11,681 subjects were selected to evaluate the possible association. Our results showed evidence for significant association between the IL‐6 gene ?572 C/G polymorphism and T2DM risk (for G allele vs. C allele: odds ratio [OR] = 1.29, 95% confidence interval [CI] = 1.09–1.52, P = 0.002, P = 0.008 after Bonferroni testing; for G/G vs. C/C: OR = 1.89, 95% CI = 1.51–2.37, P < 0.00001, P < 0.00004 after Bonferroni testing; for GG vs. G/C + C/C: OR = 1.75, 95% CI = 1.20–2.56, P = 0.004, P = 0.016 after Bonferroni testing; for G/G + G/C vs. C/C: OR = 1.32, 95% CI = 1.11–1.57, P = 0.001, P = 0.004 after Bonferroni testing). In addition, similar results were obtained in the subgroup analysis based on ethnicity. In summary, the present meta‐analysis suggests a significant association between the IL‐6 gene ?572 G allele and increased risk of T2DM.     

Association of 12 polymorphic variants conferring genetic risk to lung cancer in Indian population: An extensive meta‐analysis

Candidate gene as well as genome‐wide association studies identified several polymorphic variants to be associated with lung cancer worldwide including in India. However, contradictory results have failed to estimate the overall effect of the polymorphic variants on the disease. Textmining was conducted on PubMed following specific search strings to gather all the publications related to genetic association with lung cancer in India. Out of 211 PubMed hits only 30 studies were selected for meta‐analysis following specific inclusion criteria. Heterogeneity between studies was calculated by Cochran's Q‐test (P < 0.05) and heterogeneity index (I²). Publication bias was visualized by funnel plots and Egger's regression test. For each variant, following a fixed‐effect model, summary odds ratio (OR) along with 95% confidence interval (CI) was estimated. The meta‐analysis revealed three polymorphic variants viz. ‘deletion polymorphism (del1) (OR = 1.39, 95% CI = 1.03–1.87, P = 0.027) in GSTT1’, ‘deletion polymorphism (del2) (OR = 1.30, 95% CI = 1.01–1.67, P = 0.038) in GSTM1’ and ‘rs1048943 (OR = 1.98, 95% CI = 1.27–3.10, P = 0.002) in CYP1A1’ to be associated with lung cancer. However, after multiple testing correction, only rs1048943 was found to be significantly associated (P value = 0.0321) with lung cancer. None of the polymorphic variants showed any evidence of heterogeneity between studies or of publication bias. Our meta‐analysis revealed strong association of rs1048943 in CYP1A1, but a suggestive association of deletion polymorphisms in GSTT1 and GSTM1 with lung cancer, which provides a comprehensive insight on the overall effect of the polymorphic variants, reported in various case–control studies on Indian population, on the risk of lung cancer development. Environ. Mol. Mutagen. 58:688–700, 2017. © 2017 Wiley Periodicals, Inc.     

Detection of allergen-specific IgE in tears of grass pollen-allergic patients with allergic rhinoconjunctivitis

Background Allergic conjunctivitis is a common symptom amongst Type I (IgE-mediated) allergic diseases; and mosl frequently seen as rhinoconjunctivitis. However, the site of production and the significance of allergen specific IgE needs further elucidation. Objective We investigated whether the presence of IgE in tears of grass pollen allergic patients correlated with disease and clinical symptoms, whether the IgE binding pattern to the different grass pollen antigens was diflferent in sera and tears, and whether IgA antibodies to grass pollen allergens were present in tears. Finally, we looked whether specific IgE was produced locally or was exudated from serum. Methods Sera from 44 grass pollen allergic patients suffering from either allergic rhinitis (n=11) or allergic rhinoconjunctivitis (n= 33) and from healthy controls (n= l) were used for the experiments. Binding of specific IgE and IgA antibodies to the differyent groups of grass pollen allergens (Phleum pratense) was evaluated by means of immunobtotting. Results Specific IgE was detected in sera as well as in tears of allergic patients, whereby tear-derived allergen-specific IgE exerted similar specificities to the corresponding IgE from serum. The correlation between symptoms of ocular allergy and the presence of allergen-specific IgE in tears was highly significant (P 0.0001). In contrast, only a poor correlation was found between specific and/or total IgE in sera and the manifestation of ocular allergy (P = 0.73). Conclusion Allergen-specific IgE antibodies in tears seem to be produced locally rather than exsudated from serum. IgE in tears seems to be responsible for allergic conjunctivitis. IgA in tears cannot exert a protective function since the IgA antibodies recognize different antigens in a grass pollen (Phleum pratense) extract than IgE antibodies. The highly significant correlation between allergic conjunctivitis and the presence of specific tear IgE emphasizes the diagnostic value of immunoblots with tear IgE, especially in cases in which serum provides inconclusive results.     

The effect of a longitudinal tear of the medial meniscus on medial meniscal extrusion in anterior cruciate ligament injury patients

PurposeThe purpose of this study was to investigate the effect of a longitudinal tear of the medial meniscus (MM) and its meniscal repair on MM extrusion in anterior cruciate ligament (ACL)-injured patients. The hypothesis underlying this study was that a longitudinal tear of the MM is correlated with MM extrusion, and that the extrusion would persist after ACL reconstruction with concomitant MM repair.MethodsForty-three ACL-injured patients with a concomitant MM longitudinal tear were included in the MM tear group. Thirty-four solely ACL-injured patients without any meniscal injuries were included in the Control group. Medial meniscus extrusion width (MEW) was measured pre-operatively and three months after surgery on magnetic resonance imaging.ResultsPre-operative MEW in the MM tear group was significantly larger than that in the Control group (MM tear group: 1.5 mm, Control: 0.3 mm, P < 0.001). The MEW change in the MM tear group was significantly greater than that in the Control group three months after operation (MM tear group: 0.8 mm, Control: ? 0.2 mm, P < 0.001). The number of sutures required for repair was correlated with MEW both pre-operatively and postoperatively in the MM tear group (pre-operative: P = 0.005, R = 0.42, postoperative: P < 0.001, R = 0.54).ConclusionLongitudinal tear of the MM was correlated with MM extrusion and the MM extrusion persisted after ACL reconstruction with concomitant MM repair in the MM tear group. The initial meniscal tear size was directly correlated with the pre-operative MEW. Therefore, meniscal extrusion after longitudinal tears of the medial meniscus should be taken into careful consideration.     

Retracted: Promoter Methylation of the RASSF1A Gene may Contribute to Colorectal Cancer Susceptibility: A Meta‐Analysis of Cohort Studies

This meta‐analysis of published cohort studies was conducted to evaluate whether promoter methylation of the RASSF1A gene contributes to colorectal cancer (CRC) susceptibility. A range of electronic databases were searched without language restrictions. Meta‐analysis was conducted using the STATA 12.0 software. Crude risk differences (RD) with their 95% confidence intervals (95%CI) were calculated. In this meta‐analysis, 11 clinical cohort studies with a total of 630 CRC patients were included. The pooled results revealed that the frequency of RASSF1A gene methylation in cancer tissues was significantly higher than that in benign, adjacent, and normal tissues (cancer tissues vs. benign tissues: RD = 0.25, 95%CI = 0.13–0.38, P < 0.001; cancer tissues vs. adjacent tissues: RD = 0.32, 95%CI: 0.20–0.45, P < 0.001; cancer tissues vs. normal tissues: RD = 0.38, 95%CI: 0.26–0.50, P < 0.001; respectively). Subgroup analysis by ethnicity demonstrated that RASSF1A promoter methylation also exhibited a higher frequency in cancer tissues among both Asians and Caucasians (all P < 0.05). Our meta‐analysis has shown positive correlations between RASSF1A promoter methylation and CRC susceptibility. Thus, detection of RASSF1A promoter methylation may be utilized as a valuable diagnostic marker for CRC.     

A meta-analysis of the association between Caesarean section and childhood asthma

Background Children born by Caesarean section have modified intestinal bacterial colonization and consequently may have an increased risk of developing asthma under the hygiene hypothesis. The results of previous studies that have investigated the association between Caesarean section and asthma have been conflicting. Objective To review published literature and perform a meta‐analysis summarizing the evidence in support of an association between children born by Caesarean section and asthma. Methods MEDLINE, Web Science, Google Scholar and PubMed were searched to identify relevant studies. Odds ratio (OR) and 95% confidence interval (CI) were calculated for each study from the reported prevalence of asthma in children born by Caesarean section and in control children. Meta‐analysis was then used to derive a combined OR and test for heterogeneity in the findings between studies. Results Twenty‐three studies were identified. The overall meta‐analysis revealed an increase in the risk of asthma in children delivered by Caesarean section (OR=1.22, 95% CI 1.14, 1.29). However, in this analysis, there was evidence of heterogeneity (I²=46%) that was statistically significant (P<0.001). Restricting the analysis to childhood studies, this heterogeneity was markedly decreased (I²=32%) and no longer attained statistical significance (P=0.08). In these studies, there was also evidence of an increase (P<0.001) in the risk of asthma after Caesarean section (OR=1.20, 95% CI 1.14, 12.6). Conclusion In this meta‐analysis, we found a 20% increase in the subsequent risk of asthma in children who had been delivered by Caesarean section.     

No association between the dopamine D3 receptor Bal I polymorphism and schizophrenia in a family‐based study of a Palestinian Arab population

Several recent meta‐analyses appear to show a weak but significant effect of both forms of the gly/ser DRD3 polymorphism in conferring risk for schizophrenia. Since most studies have employed the artifact‐prone case‐control design, we thought it worthwhile to examine the role of this polymorphism using a robust family‐based strategy in an ethnic group not previously systematically studied in psychiatric genetics, Palestinian Arabs. We failed to obtain any evidence in 129 Palestinian triads, using the haplotype relative risk (allele frequency: Pearson chi‐square = 0.009, P > 0.1, df = 1, n = 258 alleles) or transmission disequilibrium test design (chi‐square = 0.38, P > 0.1, n = 86 families) for association/linkage (or increased homozygosity) of the DRD3 Bal I polymorphism to schizophrenia in our sample. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 96:778–780, 2000. © 2000 Wiley‐Liss, Inc.     

PTPN22 Gene Polymorphism (C1858T) Is Associated with Susceptibility to Type 1 Diabetes: A Meta‐Analysis of 19,495 Cases and 25,341 Controls

The protein tyrosine phosphatase N22 (PTPN22) gene C1858T polymorphism has been reported to be associated with susceptibility to type 1 diabetes (T1D) in relatively small sample sizes. This study aimed at investigating the pooled association by carrying out a meta‐analysis on the published studies. The Medline, EBSCO, and BIOSIS databases were searched to identify eligible studies published in English before June 2012. The association was assessed by odds ratio (OR) with 95% confidence intervals (CI). The presence of heterogeneity and publication bias was explored by using meta‐regression analysis and Begg's test, respectively. A total of 28 studies were involved in this meta‐analysis. Across all populations, significant associations were found between the PTPN22 C1858T polymorphism and susceptibility to T1D under genotypic (TT vs. CC [OR = 3.656, 95% CI: 3.139–4.257], CT vs. CC [OR = 1.968, 95% CI: 1.683–2.300]), recessive (OR = 3.147, 95% CI: 2.704–3.663), and dominant models (OR = 1.957, 95% CI: 1.817–2.108). In ethnicity‐ and sex‐stratified analyses, similar associations were found among Caucasians and within Caucasian male and female strata. The meta‐analysis results suggest that the PTPN22 C1858T polymorphism was associated with susceptibility to T1D among the Caucasian population, and males who carried the ‐1858T allele were more susceptible to T1D than females.     

Associations between FCGR polymorphisms and immune thrombocytopenia: A meta‐analysis

Several studies already explored associations between Fc gamma receptor (FCGR) polymorphisms and immune thrombocytopenia (ITP), but the results of these studies were not consistent. Consequently, we conducted a meta‐analysis of relevant studies to better analyse the effects of FCGR polymorphisms on individual susceptibility to ITP. PubMed, Web of Science, Embase and CNKI were searched for eligible studies. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated. Totally 17 studies were eligible for analyses (1200 cases and 1723 controls). Significant associations with ITP were observed for FCGR3A F158V polymorphism in dominant (P < 0.0001, OR = 0.47, 95% CI 0.39‐0.57), recessive (P < 0.0001, OR = 2.03, 95% CI 1.58‐2.61), overdominant (P < 0.0001, OR = 1.42, 95% CI 1.19‐1.69) and allele (P < 0.0001, OR = 0.58, 95% CI 0.51‐0.65) models in overall analyses. But we did not observe any significant associations with ITP for FCGR2A H131R and FCGR2B I232T polymorphisms in overall analyses. Subgroup analyses by ethnicity yielded similar positive results for FCGR3A F158V polymorphism in both Asians and Caucasians. Furthermore, subgroup analyses by type of disease revealed that FCGR2A H131R polymorphism was significantly associated with childhood‐onset ITP, and FCGR3A F158V polymorphism was significantly associated with both childhood‐onset and adult‐onset ITP. In summary, our findings suggested that FCGR2A H131R polymorphism may serve as a potential genetic biomarker of childhood‐onset ITP, while FCGR3A F158V polymorphism may serve as a potential genetic biomarker of both childhood‐onset and adult‐onset ITP.     

Associations of the 5‐hydroxytryptamine (serotonin) Receptor 1B gene (HTR1B) with alcohol,cocaine, and heroin abuse

Abnormal serotonergic pathways are implicated in numerous neuropsychiatric disorders including alcohol and drug dependence (abuse). The human 5‐hydroxytryptamine (serotonin) receptor 1B, encoded by the HTR1B (5‐HT1B) gene, is a presynaptic serotonin autoreceptor that plays an important role in regulating serotonin synthesis and release. Although there was evidence of associations of the HTR1B gene variants in the etiologies of substance use disorders, negative findings were also reported. To clarify the roles of commonly reported single nucleotide polymorphisms (SNPs) of the HTR1B gene underlying alcohol and drug dependence (abuse), we performed a meta‐analysis based on the available genotype data from individual candidate gene‐based association studies. Evidence of association was found between the functional SNP ?161A>T (rs130058) and alcohol, cocaine, and heroin dependence (e.g., P = 0.03 and odds ratio (OR) = 1.2 (1.02, 1.42) in the combined European, Asian, African, and Hispanic populations). SNP ?261T>G (rs11568817) also showed evidence of association but with different directions in Europeans and non‐Europeans (e.g., P = 0.0018 with OR = 1.42 (1.14, 1.76) and P = 0.01 with ORs = 0.5 (0.3, 0.85), respectively). This meta‐analysis supports the associations of HTR1B ?261T>G and ?161A>T with alcohol and drug abuse and further investigations are warranted in larger samples. © 2013 Wiley Periodicals, Inc.     

Pleomorphic Xanthoastrocytoma: Natural History and Long‐Term Follow‐Up

Prognostic significance of histological anaplasia and BRAF V600E mutation were retrospectively evaluated in 74 patients with pleomorphic xanthoastrocytoma (PXA). Median age at diagnosis was 21.5 years (31 pediatric, 43 adult) and median follow‐up 7.6 years. Anaplasia (PXA‐AF), defined as mitotic index ≥ 5/10HPF and/or presence of necrosis, was present in 33 cases. BRAF V600E mutation was detected in 39 (of 60) cases by immunohistochemical and/or molecular analysis, all negative for IDH1 (R132H). Mitotic index ≥ 5/10HPF and necrosis were associated with decreased overall survival (OS; P = 0.0005 and P = 0.0002, respectively). In all cases except two, necrosis was associated with mitotic index ≥ 5/10HPF. Patients with BRAF V600E mutant tumors had significantly longer OS compared with those without BRAF V600E mutation (P = 0.02). PXA‐AF patients, regardless of age, had significantly shorter OS compared with those without (P = 0.0003). Recurrence‐free survival was significantly shorter for adult PXA‐AF patients (P = 0.047) only. Patients who either recurred or died ≤3 years from diagnosis were more likely to have had either PXA‐AF at first diagnosis (P = 0.008) or undergone a non‐gross total resection procedure (P = 0.004) as compared with patients who did not. This study provides further evidence that PXA‐AF behaves more aggressively than PXA and may qualify for WHO grade III “anaplastic” designation.