Associations of polymorphisms in the SOST gene and bone mineral density in postmenopausal Chinese Women

Summary

The bone mineral density (BMD) of a total of 1,379 healthy postmenopausal Chinese women was measured. Ten tagging SNPs of the sclerostin (SOST) gene were genotyped. Our results suggest that the polymorphisms of the rs2023794 and rs74252774 in the SOST gene were associated with BMD of the lumbar spine in postmenopausal Chinese women.

Introduction

The purpose of the study was to determine the associations between polymorphisms of SOST gene and BMD in postmenopausal Chinese women.

Methods

A total of 1,379 independent healthy postmenopausal Chinese women including 703 in our previous study were recruited. The BMD of the lumbar spine 1–4 (L1–4) and left proximal femur including total hip and femoral neck were measured by dual-energy X-ray absorptiometry. Ten tagging SNPs (rs1234612, rs1513670, rs1634330, rs1708635, rs2023794, rs7220711, rs74252774, rs851057, rs851058, and rs865429) of the SOST gene were genotyped.

Results

The rs2023794 and rs74252774 and the haplotype ACCATTCT of SOST gene were associated with age and body mass index (BMI) adjusted L1–4 BMD (P values were 0.010, 0.007, and 0.007, respectively) even after performing the Bonferroni multiple-significance-test correction. There was a clear trend in these regions that the CC genotype of the rs2023794 and the TT genotype of the rs74252774 have higher BMD values than other genotypes. The contributions of the rs2023794 and rs74252774 to the phenotypic variation of L1–4 BMD were 0.6 and 0.7 %, respectively. We failed to find any association between the 10 SNPs and 6 haplotypes of the SOST gene and BMD at the hip site in this study.

Conclusions

Our results suggest that the polymorphisms of the rs2023794 and rs74252774 in the SOST gene were associated with BMD of the lumbar spine in a large sample of postmenopausal Chinese women.     

Association between the ESR1 -351A>G single nucleotide polymorphism (rs9340799) and adolescent idiopathic scoliosis: a systematic review and meta-analysis

Purpose

A single nucleotide polymorphism in the promoter region of the estrogen receptor alpha gene (ESR1), rs9340799, has been linked with adolescent idiopathic scoliosis (AIS) in several association studies with limited sample size and inconsistent findings. A systematic review can provide a comprehensive appraisal of literature evidence and a meta-analysis can obtain a more precise estimate of any association. The purpose of the present study was to assess and synthesize the currently available evidence on the association between rs9340799 and AIS by conducting a systematic review and meta-analysis.

Methods

This review followed the Preferred Reporting Items for Systematic Review and Meta-Analyses guidelines. PubMed (MEDLINE), EMBASE, Scopus and HuGE Literature Finder databases were systematically searched to identify relevant studies following a sensitive strategy. Summary odds ratios and corresponding 95 % confidence intervals (95 % CI) were estimated using the fixed-effect inverse variance model for allelic (G vs. A) and genotypic comparisons.

Results

Meta-analysis of four studies (n = 1,827 AIS cases and n = 1,253 controls) found a non-significant association between rs9340799 and AIS (allelic odds ratio 1.09, 95 % CI 0.96–1.23, p = 0.17).

Conclusions

When examined in isolation, the rs9340799 polymorphism does not appear to be a likely susceptibility variant for AIS predisposition. However, rs9340799 may be associated with AIS severity, progression and treatment; further investigation is necessary to confirm these potential associations.     

Genetic Variants in Genes of Tricarboxylic Acid Cycle Key Enzymes Predict Postsurgical Overall Survival of Patients with Hepatocellular Carcinoma

Background

Metabolic reprogramming is a hallmark of cancer, including the alterations of activity and expression in tricarboxylic acid (TCA) cycle key enzymes. However, the significance of single nucleotide polymorphisms (SNPs) in genes encoding these key enzymes has not been investigated in hepatocellular carcinoma (HCC).

Methods

In this study, 17 SNPs in seven genes encoding three TCA cycle enzyme families (SDH, FH, and IDH) were genotyped in 492 HCC patients with surgical treatment and their association with overall survival (OS) was analyzed.

Results

Five SNPs in four genes were identified to be associated with OS in HCC patients. Among them, rs3935401 in the 3′ untranslated region of SDHC exhibited the most significant association (P < 0.001). The unfavorable genotype of these five SNPs showed a significant accumulative effect on the prognosis of HCC patients, with a P for trend of <0.001. Furthermore, the haplotype group consisting of wild type in rs4131826 and variant in rs3935401 was significantly associated with increased risk of death in HCC patients. Survival tree analysis indicated that variant genotype of rs3935401 was the primary risk factor contributing to the prediction of OS in HCC patients.

Conclusions

SNPs in TCA cycle key enzyme genes may serve as potential biomarkers to predict the OS in HCC patients.     

Association of miR-146a rs2910164 with childhood IgA nephropathy

Background

Micro-RNAs (miRNAs) play important roles in the regulation of immune response and inflammation. The purpose of this study was to investigate the association between three single nucleotide polymorphisms (SNPs) (mir-146a rs2910164, let-7a-2 rs1143770, miR-196a2 rs11614913) and susceptibility to and severity of childhood immunoglobulin A (IgA) nephropathy (IgAN).

Methods

We genotyped three miRNA SNPs in two independent Han Chinese populations composed of 158 patients and 265 controls (discovery set), and 246 patients and 446 controls (validation set), respectively.

Results

We found that rs2910164 was significantly associated with IgAN in the discovery but not the validation set. Combined analysis revealed that rs2910164 CC and CG genotypes were associated with increased risk of IgAN compared with the GG genotype [adjusted odds ratios (OR)?=?1.684, 95 % confidence interval (CI)1.190–2.384, P?=?0.003; adjusted OR?=?1.472, 95 % CI 1.079–2.007, P?=?0.015, respectively). We also found that the frequency of the rs2910164 CC genotype was significantly higher in patients with Haas grade III–V than in those with Haas grade I–II for all study populations (P?P?=?0.038).

Conclusions

These results indicated that rs2910164 may affect the susceptibility and severity of pediatric IgAN. Further studies are needed to validate these findings.     

The hMLH1 −93G>A Promoter Polymorphism is Associates with Outcomes in Oral Squamous Cell Carcinoma Patients

Background

The aim of this study was to investigate the impact of hMLH1 polymorphisms on treatment outcomes in patients with oral squamous cell carcinoma (OSCC).

Methods

Genotypings were performed by direct DNA sequencing in peripheral blood leukocytes from 185 male OSCC patients. Patients received primary surgery with or without adjuvant radiotherapy. Two hMLH1 tag single nucleotide polymorphisms (SNPs)—rs1800734 (?93G>A in the promoter) and rs1540354 (in the third intron)—were chosen from the HapMap project. Overall survival (OS) and disease-free survival (DFS) were compared between different genotypes.

Results

The hMLH1 rs1800734 and rs1540354 polymorphisms were in weak linkage disequilibrium (r ² = 0.456). OSCC patients with the rs1800734 AA genotype had a significantly poor prognosis in both OS and DFS. This SNP can also predict the outcomes of OSCC patients with postoperative adjuvant radiotherapy, especially in advanced stage; however, no significant differences in patient outcomes were found for the hMLH1 rs1540354 genotypes.

Conclusions

Our results demonstrate that the hMLH1 ?93G>A SNP is found to be associated with patient outcomes in OSCC. This SNP can also predict their treatment outcome of radiotherapy.     

An exon polymorphism of programmed cell death 1 gene is associated with both the susceptibility and thoracolumbar kyphosis severity of ankylosing spondylitis in a Chinese Han population

Background

Although human leukocyte antigen (HLA)-B27 gene is the major susceptible gene associated with ankylosing spondylitis (AS), it has been recognized that non-HLA-B27 genes also play key roles in the development of AS. The purpose of this study is to investigate whether a single nucleotide polymorphism (SNP) in the exon region of the programmed cell death 1 (PDCD-1) gene is associated with the susceptibility or the thoracolumbar kyphosis severity of AS in a Chinese Han population.

Methods

A total of 255 AS patients between January 2008 and October 2012 were recruited in this study. Two hundred and three healthy patients were recruited as normal controls. According to the severity of thoracolumbar kyphosis, the AS patients were further divided into group A (patients with kyphosis <70°, n = 135) and group B (patients with kyphosis ≥70°, n = 120). One exon polymorphism, rs2227982 (C/T) of PDCD-1 gene, was selected for analysis. Genotyping was performed by TaqMan probe assays in all the subjects.

Results

There were significant differences of genotype distributions of rs2227982 between AS patients and normal controls. The frequency of the T allele was significantly higher in AS patients when compared with normal controls. The frequency of the T allele in group B was significantly higher than that in group A. Carriage of the TT genotype increased the risk of severe thoracolumbar kyphosis 1.9-fold in AS patients.

Conclusions

Our study confirms a significant association between the SNP rs2227982 of PDCD-1 gene and the susceptibility of AS in a Chinese Han population. Moreover, the TT genotype is suggested to be associated with the severity of thoracolumbar kyphosis secondary to AS.     

Association of receptor activator of nuclear factor-kappaB ligand (RANKL) gene polymorphisms with the susceptibility to ankylosing spondylitis: a case–control study

Objectives

To investigate the association between receptor activator of nuclear factor-kappaB ligand (RANKL) gene polymorphisms and the susceptibility to ankylosing spondylitis (AS) in a Chinese Han population.

Methods

Three hundred and fifty-two AS patients and 299 age- and gender-matched controls were recruited in this study. Peripheral blood samples were collected from all the subjects and the genomic DNA was then extracted. Three single nucleotide polymorphisms (SNPs) of the RANKL gene (rs2277438, rs7984870 and rs9533156) were genotyped using the TaqMan assay. The frequencies of alleles and genotypes were compared between AS patients and normal controls.

Results

The distributions of genotype frequencies in rs2277438 were significantly different between AS patients and normal controls (P < 0.05). The frequency of G allele of SNP rs2277438 in AS patients was significantly higher than that in normal controls (P < 0.05). The frequencies of genotypes with G allele (GG and AG) were significantly higher in AS patients when compared with normal controls (OR = 1.573, 95 % CI 1.151–2.150, P < 0.05). Neither the genotype frequencies nor the allele frequencies of rs7984870 and rs9533156 were found to be significantly different between AS patients and normal controls (P > 0.05).

Conclusions

The current study demonstrated that SNP rs2277438 of the RANKL gene was associated with the susceptibility of AS in a Chinese Han population. Genotypes with G allele (GG and AG) were identified as the risk factors for the occurrence of AS.     

Association between IGF1 gene single nucleotide polymorphism (rs5742612) and adolescent idiopathic scoliosis: a meta-analysis

Purpose

Insulin-like growth factor 1 (IGF1) gene single nucleotide polymorphism (rs5742612) has been associated with adolescent idiopathic scoliosis (AIS) in several studies with limited sample size and inconsistent outcomes. So we perform this meta-analysis to assess the precise association between IGF1 gene single nucleotide polymorphism (rs5742612) and AIS.

Methods

We systematically searched Pubmed, Embase, Web of Science and Cochrane Library up to January 19, 2016 to obtain relevant studies using our research strategy. Four articles all belonging to case–control studies were included in our meta-analysis.

Results

A total of four studies containing 763 cases and 559 controls satisfied the inclusion criteria after judgment by two reviewers. No significant associations were detected between IGF1 gene single nucleotide polymorphism (rs5742612) and AIS (T vs. C, OR = 1.10, 95 % CI 0.91–1.34, p = 0.32; TT vs. CC: OR = 1.28, 95 % CI 0.82–2.02, p = 0.28; TC vs. CC: OR = 1.29, 95 % CI 0.82–2.06, p = 0.27; TT/TC vs. CC: OR = 1.28, 95 % CI 0.83–1.98, p = 0.27; TT vs. TC/CC: OR = 1.06, 95 % CI 0.82–1.36, p = 0.66).

Conclusions

IGF1 gene single nucleotide polymorphism (rs5742612) is not significant associated with susceptibility to AIS in either Asian or Caucasian populations. However, IGF1 gene rs5742612 may be associated with severity of AIS. Further studies with larger sample size and different population groups involving the relationship are required to confirm the potential association.

     

Body composition in adolescent idiopathic scoliosis

Study design

A controlled prospective cross-sectional case study.

Objective

To investigate body mass index (BMI) and corporal composition in girls with adolescent idiopathic scoliosis (AIS) and compare them with a normal population matched by sex and age.

Summary and background data

There is controversy as to whether there are real anthropometric alterations in patients with AIS. Relative to the weight or the BMI, some studies find differences and other studies do not detect them. AIS and anorexia nervosa (AN) make their debut during adolescence and both may be associated with an alteration of their subjective physical perception. Some authors propose a link between AIS and AN supported both by an alteration of physical perception and lower BMI. No studies on body composition in AIS have been published.

Methods

Adolescent idiopathic scoliosis patient surgery candidates during 2008 were studied. Body composition was evaluated using the bioelectrical impedance analysis (Bodystat, Isle of Man, UK). A study population of more than 5,000 patients that was published by Kyle et al. (Nutrition 17:534–541, 2001) was chosen as a control (group 1). Another control group (group 2) of healthy volunteers matched by sex and age was selected among a school age and university population in Barcelona, Spain. A variance analysis was used to analyze differences between the mean values of the control group 1, the European control group, and the AIS patient surgery candidates (Epiinfo 6.2001). Comparisons between the AIS patients and control group 2 were performed with the T Student test of unpaired samples using the SPSS 15.0 (Statistical Package Social Science) software.

Results

Twenty-seven women with a mean age of 17.4 years. BMI was 18.9 kg/m² (SD 1.7; 95 % CI 18.31–19.73). In the variance analysis, a significant difference between AIS and group 1 in BMI was observed (21.0 vs. 18.9, p = 0.000004); fat-free mass (FFM = 42.6 vs. 38.9, p = 0.0000009) and fat mass (FM = 15.6 vs. 13.7, p = 0.03). Significant differences in BMI (22.13 vs. 18.9, p = 0.001; 95 % CI difference 1.85–4.60), fat mass index (FMi = 7.17 vs. 4.97, p = 0.000; 95 % CI difference 1.36–3.05) and fat-free mass index (FFMi = 14.95 vs. 13.09, p = 0.001; 95 % CI difference 0.26–1.86) between AIS and group 2 were also seen.

Conclusion

The conclusion is that there is a real alteration of body composition in AIS. The BMI, FFMi and FMi are lower than in the general population in the series under study.     

Collagen type III alpha 1 polymorphism (rs1800255, COL3A1 2209 G>A) assessed with high-resolution melting analysis is not associated with pelvic organ prolapse in the Dutch population

Introduction and hypothesis

The rs1800255, COL3A1 2209 G>A polymorphism in the alpha 1 chain of collagen type III has been associated with an increased risk of pelvic organ prolapse (POP). In one of our previous studies however, polymerase chain reaction-based restriction fragment length polymorphism (PCR-RFLP) misdiagnosed rs1800255, COL3A1 2209 G>A in 6 % of cases. The high-resolution melting (HRM) analysis on the contrary obtained a 100 % accordance for this specific polymorphism and was used in the present study to validate this risk factor for POP.

Methods

In this case–control study, women with and without symptoms of POP were included and compared. DNA was extracted from blood samples. HRM analysis was used to assess for the presence of the homozygous rs1800255. Groups were compared using the Pearson chi-square, Mann–Whitney, and t tests. The discrepancy between HRM and PCR-RFLP results was investigated using PCR-RFLP results available from our previous study.

Results

The study included 354 women: 272 patients with POP and 82 controls; 18 (7 %) cases versus 3 (4 %) controls had a homozygous rs1800255, COL3A1 2209 G>A polymorphism (odds ratio 1.9, 95 % confidence interval 0.5–6.9, compared to the wild type), and thus no association between POP and the homozygous polymorphism could be demonstrated. A discrepancy between HRM and PCR-RFLP results was found in 8 % of the samples.

Conclusions

The previously found statistically significant association between the rs1800255, COL3A1 2209 G>A polymorphism as measured with PCR-RFLP and POP could no longer be demonstrated. This raises concerns regarding the results of other association studies using PCR-RFLP.     

Are Copy Number Variants Associated With Adolescent Idiopathic Scoliosis?

Background

Adolescent idiopathic scoliosis (AIS) is a complex genetic disorder that causes spinal deformity in approximately 3% of the population. Candidate gene, linkage, and genome-wide association studies have sought to identify genetic variation that predisposes individuals to AIS, but the genetic basis remains unclear. Copy number variants are associated with several isolated skeletal phenotypes, but their role in AIS, to our knowledge, has not been assessed.

Questions/Purposes

We determined the frequency of recurrent copy number rearrangements, chromosome aneuploidy, and rare copy number variants in patients with AIS.

Methods

Between January 2010 and August 2014, we evaluated 150 patients with isolated AIS and spinal curvatures measuring 10° or greater, and 148 agreed to participate. Genomic copy number analysis was performed on patients and 1079 control subjects using the Affymetrix^® Genome-wide Human SNP Array 6.0. After removing poor quality samples, 143 (97%) patients with AIS were evaluated for copy number variation.

Results

We identified a duplication of chromosome 1q21.1 in 2.1% (N = 3/143) of patients with AIS, which was enriched compared with 0.09% (N = 1/1079) of control subjects (p = 0.0057) and 0.07% (N = 6/8329) of a large published control cohort (p = 0.0004). Other notable findings include trisomy X, which was identified in 1.8% (N = 2/114) of female patients with AIS, and rearrangements of chromosome 15q11.2 and 16p11.2 that previously have been associated with spinal phenotypes. Finally, we report rare copy number variants that will be useful in future studies investigating candidate genes for AIS.

Conclusions

Copy number variation and chromosomal aneuploidy may contribute to the pathogenesis of adolescent idiopathic scoliosis.

Clinical Relevance

Chromosomal microarray may reveal clinically useful abnormalities in some patients with AIS.     

Role of the VEGF 936 gene polymorphism and VEGF-A levels in the late-term arteriovenous fistula thrombosis in patients undergoing hemodialysis

Purpose

Vascular access is vital for hemodialysis patients. A major factor that facilitates arteriovenous (AV) fistula failure is stenosis and thrombosis due to intimal hyperplasia developing in the venous segment of AV fistula. It has been reported that VEGF accelerated re-endothelialization, reduction in intimal thickening, and/or mural thrombus formed in the injured vascular structures. In this study, we aimed to identify the effect of the VEGF 936 gene polymorphism and vascular endothelial growth factor-A (VEGF-A) levels in the late period of AV fistula loss in hemodialysis patients.

Methods

The study was carried out with a patient group of 42 individuals who experienced two or more fistula thrombosis in the late period after the AV fistula operation and also a control group of 38 patients who have not had any AV fistula thrombosis history for 3 years or more. All participants were assessed for VEGF-936C/T gene polymorphism and VEGF-A levels.

Results

VEGF-936C/T genotypes were determined in the large proportion in the control group (31.6 %), while VEGF-936C/C genotypes were determined in a large proportion in the patient group (90.5 %). Individuals carrying the VEGF-936C/C genotype had an increased risk of 5.54 for getting AV fistula thrombosis. The VEGF-A levels of patient group (27.3 ± 43.5 pg/ml) were significantly lower than those of the control group (70.7 ± 53.1 pg/ml).

Conclusion

There is an increased risk of AV fistula thrombosis in individuals carrying the VEGF-936C/C genotype. The other renal replacement modalities should be considered in patients with this genotype. As a result, it will be possible to prevent the morbidity and mortality due to fistula failure.     

Intravenous paracetamol for fever control in acute brain injury patients: cerebral and hemodynamic effects

Background

Fever occurs frequently in acute brain injury patients, and its occurrence is associated with poorer outcomes. Paracetamol, an antipyretic frequently employed in patients with cerebral damage, may cause hypotension. We evaluated the cerebral and hemodynamic effects of intravenous (IV) paracetamol for the control of fever in Neuro-Intensive Care Unit (NICU) patients.

Methods

This is a prospective observational study in which we enrolled 32 NICU patients: Subarachnoid Hemorrhage (SAH, n?=?18), Traumatic Brain Injury (TBI, n?=?10), Intracerebral Hemorrhage (ICH, n?=?2) and Acute Ischemic Stroke (AIS, n?=?2).

Results

The administration of paracetamol resulted in a decrease of core body temperature (Tc) (p?=?0,0001), mean arterial pressure (MAP) (p?=?0,0006), cerebral perfusion pressure (CPP) (p?=?0,0033), and jugular venous oxygen saturation (SjVO2) (p?=?0.0193), and in an increase of arteriojugular venous differences of oxygen (AVDO2) (p?=?0.0012). The proportion of patients who had an infusion of norepinephrine increased from 47 % to 75 % (p?=?0.0039 McNemar Test). When intracranial pressure (ICP) at the start of paracetamol infusion (t-0) was compared with the measurement of ICP after 2 h, a significant correlation was observed (r?=?0.669, p?=?0.0002). This marked and significant correlation can be explained by the fact that for the higher levels of ICP assessed at t-0 (greater than 15 mmHg), we observed a marked reduction of ICP concomitant with the decrease of Tc. No problems related to norepinephrine administration and/or increase in dosage were observed.

Conclusion

Paracetamol administration is effective but exposes patients to hypotensive episodes that must be recognized and treated expeditiously to prevent further damage to the injured brain.     

Potential role of F18 FDG PET-CT as an imaging biomarker for the noninvasive evaluation in uncomplicated skeletal tuberculosis: a prospective clinical observational study

Purpose

This is a prospective non-randomized observation study done on 33 patients with uncomplicated spinal tuberculosis to observe the imaging characteristics on sequential F-18 FDG PET CT scans.

Methods

33 consecutive patients with pathologically proven spinal tuberculosis underwent a baseline contrast-enhanced whole body FDG PET scan before initiation of antitubercular therapy, 6 and 12 months and at 18 months or the end of antitubercular therapy.

Result

The baseline peak SUVmax of lesions in our 33 cases had values ranging from 5.9 to 30.3 (mean 14.8). 63.6 % patients had clinically occult non-contiguous multifocal skeletal involvement at the time of the baseline whole body PET CT scanning. The mean change in SUVmax at various time points was highly significant (p value < 0.001).

Conclusion

SUVmax can be taken as a reliable marker for serial quantification of metabolic activity in spinal tuberculosis. This may translate into a potential role for FDG as an imaging biomarker for noninvasive response evaluation in skeletal tuberculosis.     

Short-Term Insulin Requirements Following Gastric Bypass Surgery in Severely Obese Women with Type 1 Diabetes

Background

In severely obese type 2 diabetes patients, gastric bypass surgery (GB) reduces body mass index (BMI) and hemoglobin A1c (HbA1c) and allows reduced doses of insulin and other medications. Data regarding the effects of GB on severely obese patients with type 1 diabetes are limited.

Methods

Severely obese women with type 1 diabetes (n?=?9) were studied immediately before and after GB (7.7?±?5.8 weeks, mean ± SD).

Results

On average, GB reduced mean BMI by 11 % and mean HbA1c by 0.9 % (from 8.0 to 7.1 %), with a parallel 38 % decrease in basal insulin requirements (expressed per kilogram of body weight).

Conclusion

GB rapidly decreased BMI, HbA1c, and insulin requirements in severely obese women with type 1 diabetes. However, physiologic insulin replacement remains necessary in patients with type 1 diabetes.     

Proper coding of the Abbreviated Injury Scale: can clinical parameters help as surrogates in estimating blood loss?

Purpose

The Abbreviated Injury Scale (AIS) requires the estimation of the lost blood volume for some severity assignments. This study aimed to develop a rule of thumb for facilitating AIS coding by using objective clinical parameters as surrogate markers of blood loss.

Methods

Using the example of pelvic ring fractures, a retrospective analysis of TraumaRegister DGU^® data from 2002 to 2011 was performed. As potential surrogate markers of blood loss, we recorded the hemoglobin (Hb) level, systolic blood pressure (SBP), base excess (BE), Quick’s value, units of packed red blood cells (PRBCs) transfused before intensive care unit (ICU) admission, and mortality within 24 h.

Results

We identified 11,574 patients with pelvic ring fractures (Tile/OTA classification: 39 % type A, 40 % type B, 21 % type C). Type C fractures were 73.1 % AIS_pelvis 4 and 26.9 % AIS_pelvis 5. Type B fractures were 47 % AIS_pelvis 3, 47 % AIS_pelvis 4, and 6 % AIS_pelvis 5. In type C fractures, cut-off values of <7 g/dL Hb, <90 mmHg SBP, 15 units PRBCs, and death within 24 h had a positive predictive value of 47 % and a sensitivity of 62 % for AIS_pelvis 5. In type B fractures, these cut-off values had poor sensitivity (48 %) and positive predictive value (11 %) for AIS_pelvis 5.

Conclusions

We failed to develop a rule of thumb for facilitating a proper future AIS coding using the example of pelvic ring fractures. The estimation of blood loss for severity assignment still remains a noteworthy weakness in the AIS coding of traumatic injuries.     

The role of ERCP in the era of EUS-FNA for preoperative cytological confirmation of resectable pancreatic ductal adenocarcinoma

Purpose

In patients with pancreatic ductal carcinoma (PDAC), EUS-FNA carries a risk of cancer seeding. To avoid this risk, we attempted to obtain preoperative cytological confirmation of adenocarcinoma by ERCP. The aim of this study was to assess the validity of our diagnostic strategy.

Methods

The medical records of 124 consecutive patients who were investigated for potentially resectable PDAC were retrospectively reviewed, and the ability to detect adenocarcinoma by ERCP was evaluated.

Results

ERCP was performed in 115 patients, 69 of whom had positive cytology results. Thirty-four patients underwent EUS-FNA, 29 of whom had positive cytology results. A total of 98 patients (79 %), therefore, had preoperative cytological confirmation of adenocarcinoma, which was more frequent in patients with lesions of the head of the pancreas than in those with lesions of the body or tail of the pancreas. The postoperative pathological diagnosis demonstrated malignant pancreatic neoplasms in 122 patients (98 %), including 111 with PDAC. EUS-FNA did not affect the rate of postoperative peritoneal dissemination.

Conclusions

Our strategy using ERCP as the initial diagnostic modality for obtaining cytological confirmation of potentially resectable PDAC seems to be adequate, yielding a high rate of positive cytology, especially in cases with tumors of the head of the pancreas.     

Vitamin D receptor variability and physical activity are jointly associated with low handgrip strength and osteoporosis in community-dwelling elderly people in Taiwan: the Taichung Community Health Study for Elders (TCHS-E)

Summary

We studied 472 elders to assess joint association of vitamin D receptor (VDR) variability and physical activity on low handgrip strength (LHS) and osteoporosis (OST). Our findings showed that higher risks of OST were associated with physically inactive elders with some specific VDR variations, highlighting the importance of promotion program for physical activity.

Introduction

The aim of this study was to determine the joint association between VDR variability and physical activity on LHS and OST in community-dwelling elders.

Methods

Bone mineral density of the lumbar spine (LS), the femoral neck (FN), and the total hip were measured by dual-energy X-ray absorptiometry. Four single-nucleotide polymorphisms (SNPs) (rs7975232, rs1544410, rs2239185, and rs3782905) of the VDR gene were examined in 472 participants.

Results

Physical inactivity and each of the four SNPs were jointly associated with a significantly greater risk of LHS in people than that associated with each of the VDR SNPs or low physical activity alone. Physically inactive men with the AG or AA genotype of rs2239185 had a significantly greater risk of overall, LS, and FN OST than those of physically active men with the GG genotype [odds ratio (OR) 3.57, 95 % confidence interval (CI) 1.10–11.65; OR 4.74, 95 % CI 1.43–15.70; and OR 5.06, 95 % CI 1.08–23.71, respectively]. Similarly, physically inactive women with the CG or CC genotype of rs3782905 and the AG or AA genotype of rs1544410 had a significantly greater risk of FN OST than physically active women with the GG genotype (OR 5.33, 95 % CI 1.23–23.06 and OR 5.36, 95 % CI 1.11–25.94, respectively).

Conclusions

VDR polymorphisms and physical activity are jointly associated with LHS and OST in elders. Health care programs should promote physical activity among elders as a cost-effective way to prevent LHS and OST, especially in those who may be genetically predisposed.     

Z-plasty a rational and effective technique for pilonidal sinus

Background

Pilonidal disease is a commonly encountered problem with multiple surgical options. With Z-plasty, primary closure ensures faster healing while the alteration of local anatomy reduces recurrence.

Methods

Twenty patients underwent Z-plasty for sacrococcygeal pilonidal sinus between 2007 and 2010. Prospective data of these patients were analyzed.

Results

The mean duration of symptoms was 24 months and, in the main, included pus discharging sinus and pain. Wound healing after the procedure averaged 12 days. No recurrences were recorded at a follow-up of six to 24 months.

Conclusion

The Z-plasty technique, based on a rational approach, is an effective procedure for treating pilonidal disease in terms of both faster healing and lower recurrence rates.