Common genetic variants do not associate with CAD in familial hypercholesterolemia

In recent years, multiple loci dispersed on the genome have been shown to be associated with coronary artery disease (CAD). We investigated whether these common genetic variants also hold value for CAD prediction in a large cohort of patients with familial hypercholesterolemia (FH). We genotyped a total of 41 single-nucleotide polymorphisms (SNPs) in 1701 FH patients, of whom 482 patients (28.3%) had at least one coronary event during an average follow up of 66 years. The association of each SNP with event-free survival time was calculated with a Cox proportional hazard model. In the cardiovascular disease risk factor adjusted analysis, the most significant SNP was rs1122608:G>T in the SMARCA4 gene near the LDL-receptor (LDLR) gene, with a hazard ratio for CAD risk of 0.74 (95% CI 0.49–0.99; P-value 0.021). However, none of the SNPs reached the Bonferroni threshold. Of all the known CAD loci analyzed, the SMARCA4 locus near the LDLR had the strongest negative association with CAD in this high-risk FH cohort. The effect is contrary to what was expected. None of the other loci showed association with CAD.     

Clinical approaches to non-alcoholic fatty liver disease

Non-alcoholic fatty liver disease(NAFLD)ranges from simple steatosis to nonalcoholic steatohepatitis(NASH),leading to fibrosis and potentially cirrhosis,and it is one of the most common causes of liver disease worldwide.NAFLD is associated with other medical conditions such as metabolic syndrome,obesity,cardiovascular disease and diabetes.NASH can only be diagnosed through liver biopsy,but noninvasive techniques have been developed to identify patients who are most likely to have NASH or fibrosis,reducing the need for liver biopsy and risk to patients.Disease progression varies between individuals and is linked to a number of risk factors.Mechanisms involved in the pathogenesis are associated with diet and lifestyle,influx of free fatty acids to the liver from adipose tissue due to insulin resistance,hepatic oxidative stress,cytokines production,reduced very low-density lipoprotein secretion and intestinal microbiome.Weight loss through improved diet and increased physical activity has been the cornerstone therapy of NAFLD.Recent therapies such as pioglitazone and vitamin E have been shown to be beneficial.Omega 3 polyunsaturated fatty acids and statins may offer additional benefits.Bariatric surgery should be considered in morbidly obese patients.More research is needed to assess the impact of these treatments on a long-term basis.The objective of this article is to briefly review the diagnosis,management and treatment of this disease in order to aid clinicians in managing these patients.     

Comparing human and mouse salivary glands: A practice guide for salivary researchers

Mice are a widely utilized in vivo model for translational salivary gland research but must be used with caution. Specifically, mouse salivary glands are similar in many ways to human salivary glands (i.e., in terms of their anatomy, histology, and physiology) and are both readily available and relatively easy and affordable to maintain. However, there are some significant differences between the two organisms, and by extension, the salivary glands derived from them must be taken into account for translational studies. The current review details pertinent similarities and differences between human and mouse salivary glands and offers practical guidelines for using both for research purposes.     

Evaluation of bacterial contamination after “pure” (totally) transvaginal NOTES® diagnostic peritoneoscopy with biopsies in swine: a comparative study with laparoscopy

Introduction

Bacterial contamination from viscerotomy is a barrier to natural orifice translumenal endoscopic surgery (NOTES). The aim of this survival study is to evaluate pure (totally) transvaginal NOTES bacterial contamination compared with laparoscopy in pigs.

Methods

Twelve adult female pigs underwent peritoneoscopy with liver and peritoneal biopsies, using either laparoscopy (Glap, six animals) or pure transvaginal (GNOTES) access, and were maintained alive for 7 days. In all animals, blood cultures were taken at baseline, and after 24 h and 7 days postoperatively. Swab cultures from vagina (GNOTES) and skin (Glap) were obtained pre- and post-antisepsis. Peritoneal fluid culture was obtained at necropsy. For statistical analysis, Glap and GNOTES were compared for presence of positive bacterial cultures (qualitative bacterial analysis) using Fisher’s test, with level of significance set at p < 0.05.

Results

All animals had good postoperative outcome. One animal had transient perioperative bleeding from a transvaginal access. Two animals in Glap and one in GNOTES had positive blood cultures after the procedure. All animals from GNOTES and Glap presented with mixed flora pre-antisepsis. After antisepsis, one animal (GNOTES) presented with a positive vaginal swab culture (a single bacterial strain was identified). There was no positive skin swab culture in Glap. There were no signs of intra-abdominal infection at necropsy. In two animals, one from Glap and another from GNOTES, intra-abdominal culture was positive for Corynebacterium spp. and Escherichia coli, respectively. There was no correlation between the bacterial flora found at the access site and in the peritoneal cultures.

Conclusions

Pure transvaginal peritoneoscopy with liver and peritoneal biopsy in swine is feasible and associated with bacterial contamination comparable to laparoscopy. Peritoneal bacterial contamination was clinically insignificant after 1 week postoperatively. Preoperative antisepsis provided significant reduction of bacterial load prior to transvaginal and laparoscopic procedures.     

The incidence of trochlear dysplasia in anterior cruciate ligament tears

Purpose

The purpose of the present epidemiologic study is to record the radiographic presence of trochlear dysplasia and patella alta in patients who undergo anterior cruciate ligament (ACL) reconstruction as a potential underlying factor for post-operative anterior knee pain (AKP).

Methods

All consecutive cases of skeletally-mature ACL-deficient knees that would undergo ACL reconstruction in three different hospitals were prospectively included during a six-month period. Inclusion criteria were acute and sub-acute ACL injury with no previous ipsilateral knee operation. Patients with chronic ACL tears, prior-to-ACL-injury history of patellar instability or other PF disorders were excluded from the study.

Results

A total of 299 knees were included (mean age 32 ± ten years). Forty-four (14.7 %) knees had a positive ‘crossing sign’ in the lateral X-rays and 255 (85.3 %) had no sign of trochlear dysplasia (p < 0.01). Among the cases with trochlear dysplasia, 41 (93 %) had type A trochlear dysplasia with the presence only of the ‘crossing sign’ and three (7 %) had type C trochlear dysplasia. Patellar height results included a mean Caton-Deschamps index of 1.0 ± 0.14 (0.5–1.4). Twenty (6.6 %) knees had an index of less than 0.8, and two (0.6 %) knees had an index less than 0.6. In contrast, 15 (5.0 %) knees had an abnormal value of more than 1.2, indicating patella alta.

Conclusions

The most important finding of the study is the increased prevalence of trochlear dysplasia and patella alta in patients with ACL injury, when compared to the incidence of trochlear dysplasia and patella alta in the general population in the literature. This finding could sound as an alert of a possible additional risk factor for post-operative anterior knee pain after ACL reconstruction.     

Laparoscopic inguinal hernioplasty after radical prostatectomy: is it safe? Prospective clinical trial

Introduction

Despite inguinal hernia repair being one of the most common elective operations performed in general surgical practice, there are many controversies including indications for repair and selection of the surgical technique. In recent years, laparoscopic repair has gained wider acceptance because it is associated with fewer postoperative complications and less chronic pain when compared with conventional approaches with similar recurrence rate. However, patients with lower abdominal surgery are contraindicated for laparoscopic approach. There are few studies that evaluated whether patients who have been subjected to radical prostatectomy might be subjected to laparoscopic hernia repair with the same benefits as those without previous radical prostatectomy.

Methods

Between March 2010 and March 2013, 20 consecutive patients, who had been subjected to prior radical prostatectomy, underwent laparoscopic transabdominal inguinal repair and were followed prospectively. Surgical procedure was performed using a standard technique.

Results

Mean operative time was 67.5 min. There was only one (5 %) intraoperative minor complication, an injury to the inferior epigastric vessels, which was managed by clipping of the vessels. There were no major postoperative complications. After 24 h and on the seventh postoperative day, 85 and 90 % of patients had no pain or only complained of discomfort, respectively. Nine patients (45 %) did not need any analgesics postoperatively. The mean time to return to leisure activities and to work was 3.1 and 5.6 days, respectively. There was no conversion to open surgery. All patients were discharged within 24 h. After a mean follow-up of 14 months, none of the patients presented recurrence.

Conclusion

TAPP after prostatectomy is safe and effective. It seems that patients undergoing laparoscopic repair after radical prostatic resection have the same benefits as those without prostatectomy.