Genome-wide association study of blood lead shows multiple associations near ALAD.

Exposure to high levels of environmental lead, or biomarker evidence of high body lead content, is associated with anaemia, developmental and neurological deficits in children, and increased mortality in adults. Adverse effects of lead still occur despite substantial reduction in environmental exposure. There is genetic variation between individuals in blood lead concentration but the polymorphisms contributing to this have not been defined.

Genome-wide association study identifies loci affecting blood copper, selenium and zinc.

Genetic variation affecting absorption, distribution or excretion of essential trace elements may lead to health effects related to sub-clinical deficiency. We have tested for allelic effects of single-nucleotide polymorphisms (SNPs) on blood copper, selenium and zinc in a genome-wide association study using two adult cohorts from Australia and the UK. Participants were recruited in Australia from twins and their families and in the UK from pregnant women.

Spontaneous evisceration of bowel through an umbilical hernia in a patient with refractory ascites.

Umbilical hernia in the cirrhotic patient is frequently seen in the setting of refractory ascites. This article reports a rare case of spontaneous rupture of a recurrent umbilical hernia in a patient with persistent ascites, following an acute increase in intra-abdominal pressure, leading to bowel evisceration. This case highlights a potentially fatal complication of umbilical hernia in the setting of chronic ascites, which was successfully managed with prompt surgical intervention.

Stercoral perforation requiring subtotal colectomy in a patient on methadone maintenance therapy.

Stercoral perforation of the colon is a rare but serious complication of chronic constipation. We present a case of stercoral perforation requiring subtotal colectomy in a 41-year-old female who had been on methadone maintenance for a history of long-term intravenous heroin use. Our case highlights the importance of prompt and thorough surgical intervention in the successful treatment of this rare condition.

Genetic effects on toxic and essential elements in humans: arsenic, cadmium, copper, lead, mercury, selenium, and zinc in erythrocytes.

Background And Objectives: An excess of toxic trace elements or a deficiency of essential ones has been implicated in many common diseases or public health problems, but little is known about causes of variation between people living within similar environments. We estimated effects of personal and socioeconomic characteristics on concentrations of arsenic (As), cadmium (Cd), copper (Cu), mercury (Hg), lead (Pb), selenium (Se), and zinc (Zn) in erythrocytes and tested for genetic effects using data from twin pairs.

Methods: We used blood samples from 2,926 adult twins living in Australia (1,925 women and 1,001 men; 30-92 years of age) and determined element concentrations in erythrocytes by inductively coupled plasma-mass spectrometry.

Role of 3beta-hydroxysteroid-delta 24 reductase in mediating antiinflammatory effects of high-density lipoproteins in endothelial cells.

Objective: The purpose of this study was to investigate the ability of high-density lipoproteins (HDLs) to upregulate genes with the potential to protect against inflammation in endothelial cells.

Methods And Results: Human coronary artery endothelial cells (HCAECs) were exposed to reconstituted HDLs (rHDLs) for 16 hours before being activated with tumor necrosis factor-alpha (TNF-alpha) for 5 hours. rHDLs decreased vascular cell adhesion molecule-1 (VCAM-1) promoter activity by 75% (P<0.

Measuring carbohydrate-deficient transferrin by direct immunoassay: factors affecting diagnostic sensitivity for excessive alcohol intake.

Background: carbohydrate-deficient transferrin (CDT) is a marker of alcohol intake that is used for detecting or monitoring alcohol-use disorders. The introduction of a new direct immunoassay for CDT justifies reevaluation of test performance and reexamination of factors affecting test diagnostic sensitivity and specificity.

Methods: individuals enrolled in twin/family studies of alcohol use and dependence provided blood samples and information on recent alcohol use.

Evidence of genetic effects on blood lead concentration.

Background: Lead is an environmental pollutant that causes acute and chronic toxicity. Surveys have related mean blood lead concentrations to exogenous sources, including industrial activity, use of lead-based paints, or traffic density. However, there has been little investigation of individual differences in lead absorption, distribution, or toxicity, or of genetic causes of such variation.

Advanced glycation end products decrease mesangial cell MMP-7: a role in matrix accumulation in diabetic nephropathy?

Increased extracellular matrix material is a pathological hallmark of diabetic nephropathy. In addition to collagens, a variety of non-collagenous glycoproteins such as fibronectin also accumulate in the kidney of diabetics. The effect of diabetes on degradative pathways, in particular those involving non-collagenous proteins, are relatively unexplored.

An unusual presentation of desmoid tumor in the ileum.

Desmoid tumors are nonencapsulated, locally invasive tumors of fibrous origin. Although lacking the ability to metastasize, they are notorious for recurrence. A wide variety of locations have been documented in the literature with respect to the origin of these tumors.

Control of port-site bleeding from smaller incisions after laparoscopic cholecystectomy surgery: a new, innovative, and easier technique.

Laparoscopic cholecystectomy has become the standard of care for patients with acute cholecystitis, symptomatic cholelithiasis, and biliary dyskinesia. Most surgeons now perform this procedure as outpatient surgery. In a standard laparoscopic cholecystectomy procedure, three trocar incisions are made outside the umbilicus.

Simple technique for proper approximation and closure of peritoneal and rectus sheath defects at port site after laparoscopic surgery.

Complex intra-abdominal surgical procedures can now be performed with laparoscopy, and laparoscopic cholecystectomy has become the gold standard in the care of patients with cholelithiasis. This and other surgically challenging procedures involve use of multiple large (10-mm-15-mm) ports. A standard laparoscopic cholecystectomy employs two 10-mm trocar incisions.

Carbon dioxide volume and intra-abdominal pressure determination before the creation of a pneumoperitoneum.

Laparoscopic surgery generally is regarded as a safe procedure when a preset pressure is used in the carbon dioxide insufflator. However, a fixed pressure setting is not appropriate when insufflating a very large or a very small abdomen. Presently, extrapolation from the commonly used 15 mm Hg to an appropriate and safe pressure cannot be easily determined except by a crude trial and error method.