Genetic variants in RNA-induced silencing complex genes and prostate cancer

Purpose

The purpose of this study is to evaluate the potential association between genetic variants in genes encoding the components of RNA-induced silencing complex and prostate cancer (PCa) risk. Genetic variants chosen for this study are rs3742330 in DICER1, rs4961280 in AGO2, rs784567 in TARBP2, rs7813 in GEMIN4 and rs197414 in GEMIN3.

Methods

The study involved 355 PCa patients, 360 patients with benign prostatic hyperplasia and 318 healthy controls. For individuals diagnosed with PCa, clinicopathological characteristics including serum prostate-specific antigen level at diagnosis, Gleason score (GS) and clinical stage were determined. Genotyping was performed using high-resolution melting analysis, PCR–RFLP, TaqMan SNP Genotyping Assay and real-time PCR-based genotyping assay using specific probes. Allelic and genotypic associations were evaluated by unconditional linear and logistic regression methods.

Results

The study provided no evidence of association between the analyzed genetic variants and PCa risk. Nevertheless, allele A of rs784567 was found to confer the reduced risk of higher serum PSA level at diagnosis (P = 0.046; Difference = ?66.64, 95 % CI ?131.93 to 1.35, for log-additive model). Furthermore, rs4961280, as well as rs3742330, were shown to be associated with GS. These variants, together with rs7813, were found to be associated with the lower clinical stage of PCa. Also, rs3742330 minor allele G was found to be associated with lower PCa aggressiveness (P = 0.036; OR 0.14, 95 % CI 0.023–1.22, for recessive model).

Conclusions

According to our data, rs3742330, rs4961280 and rs7813 qualify for potentially protective genetic variants against PCa progression. These variants were not shown to be associated with PCa risk.

     

Vitamin D and prostate cancer prognosis: a Mendelian randomization study

Purpose

Decreased vitamin D levels have been associated with prostate cancer, but it is unclear whether this association is causal. A functional single-nucleotide polymorphism (SNP) in the group-specific component (GC) gene (T > G, rs2282679) has been associated with 25-hydroxy (25-OH) vitamin D and 1.25 dihydroxy (1.25-OH2) vitamin D levels.

Methods

To examine the hypothesized inverse relationship between vitamin D status and prostate cancer, we studied the association between this SNP and prostate cancer outcome in the prospective PROCAGENE study comprising 702 prostate cancer patients with a median follow-up of 82 months.

Results

GC rs2282679 genotypes were not associated with biochemical recurrence [hazard ratios (HR) 0.91, 95 % confidence interval (CI) 0.73–1.12; p = 0.36], development of metastases (HR 1.20, 95 % CI 0.88–1.63; p = 0.25) or overall survival (HR 1.10; 95 % CI 0.84–1.43; p = 0.50).

Conclusions

A causal role of vitamin D status, as reflected by GC rs2282679 genotype, in disease progression and mortality in prostate cancer patients is unlikely.

     

Association of interactions between dietary salt consumption and hypertension-susceptibility genetic polymorphisms with blood pressure among Japanese male workers

Background

Blood pressure is influenced by hereditary factors and dietary habits. The objective of this study was to examine the effect of dietary salt consumption and single-nucleotide polymorphisms (SNPs) on blood pressure (BP).

Methods

This was a cross-sectional analysis of 2728 male participants who participated in a health examination in 2009. Average dietary salt consumption was estimated using electronically collected meal purchase data from cafeteria. A multivariate analysis, adjusting for clinically relevant factors, was conducted to examine whether the effect on BP of salt consumption, SNPs, and interaction between salt consumption and each SNP. This study examined the SNPs AGT rs699 (Met235Thr), ADD1 rs4961 (Gly460Trp), NPPA rs5063 (Val32Met), GPX1 rs1050450 (Pro198Leu), and AGTR1 rs5186 (A1166C) in relation to hypertension and salt sensitivity.

Results

BP was not significantly associated with SNPs or salt consumption. The interaction between salt consumption and SNPs with systolic BP showed a significant association in NPPA rs5063 (Val32Met) (P = 0.023) and a marginal trend toward significance in rs4961 and rs1050450 (P = 0.060 and 0.067, respectively).

Conclusion

The effect of salt consumption on BP differed by genotype. Dietary salt consumption and genetic variation can predict a high risk of hypertension.

     

Ranula: Current Concept of Pathophysiologic Basis and Surgical Management Options

Background

There is no consensus opinion on a definitive surgical management option for ranulas to curtail recurrence, largely from the existing gap in knowledge on the pathophysiologic basis.

Aim

To highlight the current scientific basis of ranula development that informed the preferred surgical approach.

Design

Retrospective cohort study.

Setting

Public Tertiary Academic Health Institution.

Method

A 7-year 7-month study of ranulas surgically managed at our tertiary health institution was undertaken—June 1, 2008–December 31, 2015—from case files retrieved utilising the ICD-10 version 10 standard codes.

Results

Twelve cases, representing 0.4 and 1.2% of all institutional and ENT operations, respectively, were managed for ranulas with a M:F = 1:1. The ages ranged from 5/12 to 39 years, mean = 18.5 years, and the disease was prevalent in the third decade of life. Main presentation in the under-fives was related to airway and feeding compromise, while in adults, cosmetic facial appearance. Ranulas in adults were plunging (n = 8, 58.3%), left-sided save one with M:F = 2:1. All were unilateral with R:L = 1:2. Treatment included aspiration (n = 2, 16.7%) with 100% recurrence, intra-/extraoral excision of ranula only (n = 4, 33.3%) with recurrence rate of 50% (n = 2, 16.7%), while marsupialisation in children (n = 1, 8.3%) had no recurrence. Similarly, transcervical approach (n = 5, 41.7%) with excision of both the ranula/sublingual salivary gland recorded zero recurrence. Recurrence was the main complication (n = 4, 33.3%).

Conclusion

With the current knowledge on the pathophysiologic basis, extirpation of both the sublingual salivary gland and the ranula by a specialist surgeon is key for a successful outcome.

     

LBP rs2232618 polymorphism contributes to risk of sepsis after trauma

Background

Previous study revealed that rs2232618 polymorphism (Phe436Leu) within LBP gene is a functional variant and associated with susceptibility of sepsis in traumatic patients. Our aim was to confirm the reported association by enlarging the population sample size and perform a meta-analysis to find additional evidence.

Methods

Traumatic patients from Southwest (n?=?1296) and Southeast (n?=?445) of China were enrolled in our study. After genotyping, the relationship between rs2232618 and the risk of sepsis was analyzed. Furthermore, we proceeded with a comprehensive literature search and meta-analysis to determine whether the rs2232618 polymorphism conferred susceptibility to sepsis.

Results

Significance correlation was observed between rs2232618 and risk of sepsis in Southwest patients (P?=?0.002 for the dominant model, P?=?0.006 for the recessive model). The association was confirmed in Southeast cohort (P?=?0.005 for the dominant model) and overall combined cohorts (P =?4.5?×?10^?4, P?=?0.041 for the dominant and recessive model). Multiple logistical regression analyses suggested that rs2232618 polymorphism was related to higher risk of sepsis (OR?=?1.77, 95% CI?=?1.26–2.48, P?=?0.001 in Southwest patients; OR?=?2.11, 95% CI?=?1.24–3.58, P?=?0.006 in Southeast cohort; OR?=?1.54, 95% CI?=?1.34–2.08, P?=?0.006 in overall cohort). Furthermore, meta-analysis of four studies (including the present study) confirmed that rs2232618 within LBP increased the risk of sepsis (OR?=?1.75, P?<?0.001 for the dominant model; OR?=?6.08, P?=?0.003 for the recessive model; OR?=?2.72, P?<?0.001 for the allelic model).

Conclusions

The results from our replication study and meta-analysis provided firm evidence that rs2232618T allele significantly increased the risk of sepsis.

     

<Emphasis Type="Italic">FABP2</Emphasis>, <Emphasis Type="Italic">LEPR223</Emphasis>, <Emphasis Type="Italic">LEP656</Emphasis>, and <Emphasis Type="Italic">FTO</Emphasis> Polymorphisms: Effect on Weight Loss 2 Years After Bariatric Surgery

Purpose

Differences in weight loss outcomes after bariatric surgery may be related to individual preoperative characteristics. The aim of this study was to evaluate the potential effect of fatty acid binding protein-2 (rs1799883), leptin receptor (LEP223, rs1137101 and LEP656, rs1805094), and fat mass and obesity-related (rs9939609) genotypes on weight loss 2 years after bariatric surgery in Brazilian patients.

Materials and Methods

Prospective observational study involving 105 patients (lost to follow-up, 25.7%). In the preoperative period, patients were clinically evaluated and a fasting blood sample for genetic analysis (by real-time DNA amplification technique) was collected. From the patient’s medical records, follow-up weight loss (3, 6, 12, 24 months) was obtained. Percentage of excess weight loss (%EWL) was examined by pairwise comparison across the polymorphisms.

Results

At baseline, the mean weight was 127.5 (23.3) kg and age 43.1 (10.9) years old. The %EWL was significant over time (p?<?0.01). Only the LEP223 genotype showed association (p?<?0.01). Up to 6 months after surgery, no differences were observed. At 12 months, a significant difference (p?=?0.03) between AA (n?=?19) and GG (n?=?34) groups was observed, with 76.5% EWL versus 52.0%, respectively. This difference remained at 24 months. Other genotypes did not present any significant association.

Conclusions

There is a different evolution of weight loss in carriers of the LEP223 after bariatric surgery. The AA genotype seems to be associated with a higher weight loss. However, this pattern was evident only at 12 months after surgery.

     

Cross-cultural adaptation and validation of the International Knee Documentation Committee Subjective Knee Form in Greek

Background

Patient-reported outcomes require validation in a particular language and culture before administration for clinical use.

Materials and methods

A systematic translation of the IKDC Subjective Knee Form was initially tested in 30 patients with various knee pathologies to develop the first Greek version (IKDC/SKF-GR). It was then administered to another 80 patients. The test–retest reliability (n = 35) and internal consistency (n = 80) were examined. Construct validity was tested by correlating the IKDC/SKF-GR with the SF-36 subscales (n = 80) and content validity by measuring floor/ceiling effects. Responsiveness was measured in patients with meniscus pathology (n = 24).

Results

Patients filled the form without omissions/questions regarding the phrasing of items. Internal consistency was good (Cronbach’s α = 0.87) and test–retest reliability very good (ICC_2,1 = 0.95, SEM = 4.4 and SDC = 12.2). Correlations with the SF-36 subscales confirmed its construct validity. No floor/ceiling effects were recorded. The effect size was large (ES = 1.26).

Conclusions

The IKDC/SKF-GR has comparable measurement properties to the original form.

Level of evidence

Level II.

     

Major perioperative complications after spine surgery in patients with cerebral palsy: assessment of risk factors

Purpose

A prospective, longitudinal cohort was studied to determine the incidence, consequences, and risk factors of major perioperative complications in patients with cerebral palsy (CP) treated with spinal fusion. There is a wide variety of data available on the complications of spine surgery; however, little exists on the perioperative complications in patients with CP.

Methods

A prospective multicenter dataset of consecutive patients with CP treated with spinal fusion was evaluated. All major perioperative complications were identified and stratified into categories: pulmonary, gastrointestinal, other medical, wound infection, neurological, instrumentation related, and unplanned staged surgery. Univariate and multivariate analyses were performed to identify various risk factors for major perioperative complications.

Results

127 patients were identified with a mean age of 14.3 ± 2.6 years. Overall, 39.4 % of the patients had a major perioperative complication. Occurrence of a complication [no complication (NC), yes complication (YC)] resulted in significantly increased intensive care unit (ICU) (NC = 3.2 days, YC = 7.8 days, p < 0.05) and hospital stays (NC = 7.7 days, YC = 15.6 days, p < 0.05). Variables associated with greater risk of a complication included: increased estimated blood loss (EBL) (p < 0.001), larger preoperative kyphosis (p = 0.05), staged procedures (p < 0.05), a lack of antifibrinolytic use (p < 0.05), and a trend toward lower body mass index (BMI) (p = 0.08). Multivariate regression analysis revealed an increased EBL as independently associated with a major perioperative complication (p < 0.05).

Conclusions

In this cohort of patients with CP who underwent spinal fusion, 39.4 % experienced a major perioperative complication, with pulmonary being the most common. The occurrence of a major perioperative complication lengthened both ICU and hospital stay. Risk factors for major perioperative complications included greater preoperative kyphosis, staged procedures, a lack of antifibrinolytic use, and increased EBL, with the latter being an independent predictor of a major perioperative complication.

Level of evidence

2.

     

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.

     

Predictors of Post-Operative Pain Relief in Patients with Chronic Pancreatitis Undergoing the Frey or Whipple Procedure

Background

Post-operative pain relief in chronic pancreatitis (CP) is variable. Our objective was to determine clinical imaging or histopathologic predictor(s) of post-operative pain relief in CP patients undergoing the Whipple or Frey procedure.

Methods

All patients who underwent a Whipple (n?=?30) or Frey procedure (n?=?30) for painful CP between January 2003 and September 2013 were evaluated. A toxic etiology was defined as a history of alcohol use and/or smoking. The pre-operative abdominal CT was evaluated for calcification(s) and main pancreatic duct (MPD) dilation (≥5 mm). The post-operative histopathology was evaluated for severe fibrosis. Clinical imaging and histopathologic features were evaluated as predictors of post-operative pain relief using univariable and multivariable regression analysis.

Results

A total of 60 patients (age 51.6 years, 53 % males) were included in our study, of whom 42 (70 %) reported post-operative pain relief over a mean follow-up of 1.1 years. There were 37 (62 %) patients with toxic etiology, 36 (60 %) each with calcification(s) and MPD dilation. A toxic etiology, calcifications, and severe fibrosis were associated with post-operative pain relief on univariable analysis (all p?<?0.01). However, only a toxic etiology was an independent predictor of post-operative pain relief (OR 5.7, 95 % CI 1.3, 24.5, p?=?0.02).

Conclusion

Only a toxic etiology, and not imaging or histopathologic findings, independently predicts post-operative pain relief in CP patients undergoing the Whipple or Frey procedure.

     

Frey’s procedure for chronic pancreatitis improves the nutritional status of these patients

Purpose

The aim of surgical intervention for chronic pancreatitis (CP) is to relieve symptoms and improve quality of life. However, the precise effect of surgery on the nutritional status of CP patients, which is often impaired by exocrine and endocrine pancreatic dysfunction, has not been elucidated. We conducted this study to evaluate whether Frey’s procedure improves the nutritional status of CP patients.

Methods

The nutritional status of 35 patients who underwent Frey’s procedure for CP at our institute between April 2005 and December 2014, was assessed by the controlling nutritional status (CONUT) scoring before and 1 year after the surgery, and compared with that of seven CP patients who underwent pancreatoduodenectomy. The occurrence of postoperative hepatic steatosis was also monitored.

Results

The nutritional status improved after Frey’s procedure, but not after pancreatoduodenectomy. The median postoperative CONUT score after Frey’s procedure was significantly lower than the preoperative score (1.0 ± 0.5 vs. 4.0 ± 2.5; p < 0.001).

Conclusion

Frey’s procedure is superior to pancreatoduodenectomy for improving the nutritional status of CP patients.

     

Is reduction better than arthrodesis in situ in surgical management of low-grade spondylolisthesis? A system review and meta analysis

Purpose

To compare the clinical and radiographic outcomes of arthrodesis in situ with arthrodesis after reduction in low-grade spondylolisthesis.

Methods

We performed a comprehensive search of both observational and randomized clinical trials published up to April 2016 in PubMed, MEDLINE, Cochrane Library, and Embase databases. The outcomes included age, sex, operative time, blood loss, and at least 2 years clinical results of Oswestry disability index (ODI), visual analogue scale (VAS), lumbar lordosis, slippage, fusion rate, the rate of good and excellent and the complication rate. Two authors independently extracted the articles and the predefined data.

Results

Seven eligible studies, involving four RCTs and three cohort studies were included in this systematic review and meta-analysis. Patients who underwent reduction did achieved better slippage correction comparing with arthrodesis in situ (P < 0.00001). However, there was no significant difference in the case of operative time, blood loss, VAS (P = 0.36), ODI (P = 0.50), lumbar lordosis (P = 0.47), the rate of good and excellent (P = 0.84), fusion rate (P = 0.083) and complication rate (P = 0.33) between the arthrodesis in situ group and the reduction group.

Conclusions

On the basis on this review, arthrodesis after reduction of low-grade spondylolisthesis potentially reduced vertebral slippage. Reduction was neither associated with a longer operative time nor more blood loss. There was no significant difference in the outcomes between reduction and arthrodesis in situ group. Both procedures could be expected to achieve good clinical result.

Level of evidence

Therapeutic Level IIa.

     

Analysis of <Emphasis Type="Italic">PLA2R1</Emphasis> and <Emphasis Type="Italic">HLA</Emphasis>-<Emphasis Type="Italic">DQA1</Emphasis> sequence variants in Japanese patients with idiopathic and secondary membranous nephropathy

Background

Several recent studies in patients with idiopathic membranous nephropathy (iMN) from Western and Asian counties showed that some single nucleotide polymorphisms (SNPs) within the PLA2R1 and HLA-DQA1 genes are significantly associated with iMN. However, there is only 1 report on analysis of PLA2R1 and HLA regions in Japanese patients with iMN.

Methods

A total of 58 patients with iMN, 26 patients with secondary MN (sMN), and 50 patients with other diseases were enrolled. All patients were Japanese. We selected 6 SNPs within PLA2R1 and 1 SNP within HLA-DQA1, which were significantly associated with iMN in reported white European cohorts, and sequenced these exons using genomic DNA prepared from peripheral mononuclear cells from each patient. We then analyzed differences in PLA2R1 and HLA-DQA1 sequence variants among the 3 groups.

Results

Genotypic and allelic frequency distributions for 3 out of 6 SNPs within PLA2R1, rs3749117, rs35771982, and rs2715918 were significantly different between the iMN and control groups. Allelic frequency distributions for SNP rs2187668 within HLA-DQA1 were significantly different between the iMN and control groups. There were no correlations between PLA2R1 and HLA-DQA1 sequence variants and clinical parameters in patients with iMN. There were no significant differences in genotypic or allelic frequency distributions for examined SNPs between the sMN and control groups.

Conclusions

There are some differences in PLA2R1 SNP distributions between previously reported cohorts from other countries and our Japanese cohort of patients with iMN, while there is a significant association between SNP rs35771982 and iMN in most of reported cohorts.

     

Associations between vitamin D receptor gene polymorphisms and ankylosing spondylitis in Chinese Han population: a case–control study

Summary

We assessed whether the vitamin D receptor gene polymorphisms (FokI, BsmI, ApaI, and TaqI) were associated with ankylosing spondylitis (AS) in a Chinese Han population. The TaqI polymorphism G allele was a risk factor in AS susceptibility.

Introduction

Previous studies have found that serum vitamin D levels are declined in patients with AS. The present study aims to evaluate the role of vitamin D receptor (VDR) gene polymorphisms in AS susceptibility in a Chinese Han population.

Methods

Four single nucleotide polymorphisms (SNPs) in the VDR gene (FokI (rs2228570), BsmI (rs1544410), ApaI (rs7975232), and TaqI (rs731236)) were genotyped by the improved multiplex ligase detection reaction (iMLDR) method in 620 AS patients and 620 geographically and ethnically matched healthy controls. Haplotypes were constructed after linkage disequilibrium (LD) analysis.

Results

Statistically significant difference was only found in the TaqI polymorphism between AS patients and controls. The TaqI polymorphism G allele was higher in AS group than that in controls (OR [95 % CI]?=?1.624 [1.122–2.352], χ ²?=?6.705, P?=?0.006). Linkage disequilibrium has been detected in TaqI and BsmI polymorphisms (D′?=?0.87, r ²?=?0.70). Two novel haplotypes (H1: AC and H2: GT) were significantly associated with the risk of AS, and they play protective and risk roles in AS morbidity, respectively.

Conclusions

The VDR gene TaqI polymorphism G allele may be a risk factor in AS susceptibility.

     

The Role of Attachment in Body Weight and Weight Loss in Bariatric Patients

Purpose

The aim of this study is to explore the role of attachment styles in obesity.

Material and Methods

The present study explored differences in insecure attachment styles between an obese sample waiting for bariatric surgery (n = 195) and an age, sex and height matched normal weight control group (n = 195). It then explored the role of attachment styles in predicting change in BMI 1 year post bariatric surgery (n = 143).

Results

The bariatric group reported significantly higher levels of anxious attachment and lower levels of avoidant attachment than the control non-obese group. Baseline attachment styles did not, however, predict change in BMI post surgery.

Conclusion

Attachment style is different in those that are already obese from those who are not. Attachment was not related to weight loss post surgery.

     

The distribution of infection with <Emphasis Type="Italic">Propionibacterium acnes</Emphasis> is equal in patients with cervical and lumbar disc herniation

Background

Cervical and back pains are important clinical problems affecting human populations globally. It is suggested that Propionibacterium acnes (P. acnes) is associated with disc herniation. The aim of this study is to evaluate the distribution of P. acnes infection in the cervical and lumbar disc material obtained from patients with disc herniation.

Methods and material

A total of 145 patients with mean age of 45.21 ± 11.24 years who underwent micro-discectomy in cervical and lumbar regions were enrolled into the study. The samples were excited during the operation and then cultured in the anaerobic incubations. The cultured P. acnes were detected by 16S rRNA-based polymerase chain reaction.

Results

In this study, 145 patients including 25 cases with cervical and 120 cases with lumbar disc herniation were enrolled to the study. There was no significant difference in the age of male and female patients (p = 0.123). P. acnes infection was detected in nine patients (36%) with cervical disc herniation and 46 patients (38.3%) with lumbar disc herniation and no significant differences were reported in P. acnes presence according to the disc regions (p = 0.508.). Moreover, there was a significant difference in the presence of P. acnes infection according to the level of lumbar disc herniation (p = 0.028).

Conclusion

According to the results, the presence of P. acnes is equal in patients with cervical and lumbar disc herniation. There was a significant difference in the distribution of P. acnes infection according to level of lumbar disc herniation.

Level of Evidence

II

     

Association of osteoporosis with genetic variants of circadian genes in Chinese geriatrics

Summary

This study was designed to investigate the association of circadian gene single nucleotide polymorphisms (SNPs) with the risk of osteoporosis. We found that the rs3781638 GG genotype was positively associated with osteoporosis prevalence in females, whereas the rs2292910 AC genotype was negatively associated with osteoporosis prevalence in a geriatric cohort.

Introduction

Studies have shown that disruption of endogenous circadian rhythms may increase the risk of developing type II diabetes and obesity, which are reportedly associated with osteoporosis (OP). Thus, abnormalities of circadian genes may indirectly induce OP. Here, we investigated the association of OP with 14 SNPs located in seven circadian genes.

Methods

The research subjects, geriatric residents of Shanghai Minhang, China, diagnosed with OP (N?=?171) or osteopenia (N?=?226) or without specific diseases (N?=?200), were genotyped for 14 genetic variants of circadian genes by competitive allele-specific polymerase chain reaction. The prevalence of polymorphisms among the subject groups and the association between the SNPs and osteoporosis were investigated.

Results

Among the 14 genotyped SNPs, we found an association between the CRY2 gene rs2292910 SNP and osteoporosis (r?=??0.082, p?=?0.045) in the geriatric cohort. We found a decreased risk between cryptochrome 2 rs2292910 and OP (A/C odds ratio?=?0.647, p?=?0.044) but an increased risk between MTNR1B rs3781638 and OP (G/G odds ratio?=?2.058, p?=?0.044).

Conclusion

For the first time, we show that Cry 2 rs2292910 and MTNR1B rs3781638 are associated with osteoporosis in a Chinese geriatric cohort. Therefore, targeting the abnormalities of the CRY2 and MTNR1B genes may be a potential strategy to treat and/or to prevent osteoporosis.

     

Hip surgery and its evidence base: progress over a decade?

Background

The burden of traumatic and elective hip surgery is set to grow. With an increasing number of techniques and implants against the background of an aging population, the emphasis on evidence-based treatment has never been greater. The purpose of this study was to assess changes in the levels of evidence in the hip literature over a decade.

Materials and methods

Articles pertaining to hip surgery from the years 2000 and 2010 in Hip International, Journal of Arthroplasty, Journal of Bone and Joint Surgery and The Bone and Joint Journal were analysed. Articles were ranked by a five-point level of evidence scale and by type of study, according to guidelines from the Centre for Evidence-based Medicine.

Results

531 articles were analysed from 48 countries. The kappa value for the inter-observer reliability showed excellent agreement between the reviewers for study type (κ = 0.956, P < 0.01) and for levels of evidence (κ = 0.772, P < 0.01). Between 2000 and 2010, the overall percentage of high-level evidence (levels I and II) studies more than doubled (12 to 31 %, P < 0.001). The most frequent study type was therapeutic; the USA and UK were the largest producers of published work in these journals, with contributions from other countries increasing markedly over the decade.

Conclusions

There has been a significant increase in high levels of evidence in hip surgery over a decade (P < 0.001). We recommend that all orthopaedic journals consider implementing compulsory declaration by authors of the level of evidence to help enhance quality of evidence.

Level of evidence

Level 2: economic and decision analysis.

     

Feasibility of the liver-first approach for patients with initially unresectable and not optimally resectable synchronous colorectal liver metastases

Purpose

To investigate the outcomes of patients with colorectal cancer and initially unresectable or not optimally resectable liver metastases, who were treated using the liver-first approach in the era of modern chemotherapy in Japan.

Methods

We analyzed and compared data retrospectively on patients with asymptomatic resectable colorectal cancer and initially unresectable or not optimally resectable liver metastases, who were treated either using the liver-first approach (n = 12, LF group) or the primary-first approach (n = 13, PF group).

Results

Both groups of patients completed their therapeutic plan and there was no mortality. Postoperative morbidity rates after primary resection and hepatectomy, and post-hepatectomy liver failure rate were comparable between the groups (p = 1.00, p = 0.91, and p = 0.55, respectively). Recurrence rates, median recurrence-free survival since the last operation, and 3-year overall survival rates from diagnosis were also comparable between the LF and PF groups (58.3 vs. 61.5 %, p = 0.87; 10.5 vs. 18.6 months, p = 0.57; and 87.5 vs. 82.5 %, p = 0.46, respectively).

Conclusions

The liver-first approach may be an appropriate treatment sequence without adversely affecting perioperative or survival outcomes for selected patients.

     

A cohort study of the morbidity of combined anterior-posterior cervical spinal fusions: incidence and predictors of postoperative dysphagia

Purpose

To identify risk factors that may lead to the development of dysphagia after combined anterior and posterior (360°) cervical fusion surgery.

Methods

A single center, retrospective analysis of patients who had same-day, 360° fusion at Henry Ford Hospital between 2008 and 2012 was performed. Variables analyzed included demographics, medical co-morbidities, levels fused, and degree of dysphagia.

Results

The overall dysphagia rate was 37.7 %. Patients with dysphagia had a longer mean length of stay (p < 0.001), longer mean operative time (p < 0.001), greater intraoperative blood loss (p = 0.002), and fusion above the fourth cervical vertebra, C4, (p = 0.007). There were no differences in the rates of dysphagia when comparing patients undergoing primary or revision surgery (p = 0.554).

Conclusion

Prolonged surgery and fusion above C4 lead to higher rates of dysphagia after 360° fusions. Prior anterior cervical fusion does not increase the risk of dysphagia development.