Improving medical personnel selection and appointment processes.

Purpose: This paper seeks to argue that processes for selecting and appointing medically qualified personnel in some healthcare organizations may be limited, especially those that emphasize qualifications rather than expanding the criteria to include practice scope, person-organization fit and capability to function within a healthcare team.

Design/methodology/approach: The paper is based on the authors' experiences and a literature review.

Findings: Selection based purely on academic merit, advanced clinical training, skills and professional achievements may not address other essential selection criteria.

The changing role of liver biopsy in diagnosis and management of haemochromatosis.

Liver biopsy with histological examination of liver tissue was for many years the cornerstone of the diagnosis of haemochromatosis, allowing assessment of the degree of iron overload and examination of liver histology for the acute and chronic effects of iron overload. In the past two decades the role of liver biopsy in haemochromatosis has changed dramatically. Liver biopsy is rarely requested for two main reasons: (1) genetic testing for human haemochromatosis (HFE) mutations has proved to be very reliable in the diagnosis of haemochromatosis in Caucasian populations, and (2) the majority of patients with haemochromatosis are now diagnosed at an early stage well before permanent tissue damage occurs, so the need to assess tissue and organ damage has diminished.

The clinical relevance of compound heterozygosity for the C282Y and H63D substitutions in hemochromatosis.

Background & Aims: Two major mutations are defined within the hemochromatosis gene, HFE. Although the effects of the C282Y substitution have been well characterized, the clinical significance of the C282Y/H63D state remains unclear. This study assessed the phenotypic expression in C282Y/H63D subjects as compared with C282Y homozygotes.

Screening for hemochromatosis in asymptomatic subjects with or without a family history.

Background: Hemochromatosis in white subjects is mostly due to homozygosity for the common C282Y substitution in HFE. Although clinical symptoms are preventable by early detection of the genetic predisposition and prophylactic treatment, population screening is not currently advocated because of the discrepancy between the common mutation prevalence and apparently lower frequency of clinical disease. This study compared screening for hemochromatosis in subjects with or without a family history.

Autosomal dominant hereditary sensory neuropathy with chronic cough and gastro-oesophageal reflux: clinical features in two families linked to chromosome 3p22-p24.

Autosomal dominant hereditary sensory neuropathy (HSN I) is a clinically and genetically heterogeneous group of disorders, and in some families it is due to mutations in the serine palmitoyltransferase (SPTLC1) gene. We have characterized two families with HSN I associated with cough and gastro-oesophageal reflux (GOR). From a large Australian family, 27 individuals and from a smaller family, 11 individuals provided clinical information and blood for genetic analysis.

Probable ischemic colitis caused by pseudoephedrine with tramadol as a possible contributing factor.

Objective: To report a case of acute self-limiting ischemic colitis in a patient who was self-medicating with a proprietary over-the-counter oral decongestant containing pseudoephedrine.

Case Summary: A 46-year-old white man developed clinical, endoscopic, and histologic features of acute ischemic colitis after taking a proprietary oral decongestant containing pseudoephedrine 240 mg/day for one week. The total daily dose was at the upper limit of recommended doses for pseudoephedrine (as a single drug or in combination products).

Ultrastructural changes in hepatic sinusoidal endothelial cells acutely exposed to colloidal iron.

Hepatic sinusoidal endothelial cells form an important interface between the vascular system, represented by the sinusoids, and the space of Disse that surrounds the hepatocyte microvilli. This study aimed to assess the light microscopic and ultrastructural effects of acute exposure of hepatic sinusoidal endothelial cells to colloidal iron by injection of rats with iron polymaltose. Eight minutes after a single intravenous injection of iron polymaltose sinusoidal endothelial cells showed defenestration, and thickening and layering as assessed by transmission electron microscopy.

Acute pancreatitis associated with angiotensin II receptor antagonists.

Objective: To report a case of acute pancreatitis in a patient receiving a combination formulation of irbesartan and hydrochlorothiazide (HCTZ).

Case Summary: A 33-year-old white woman developed acute pancreatitis 10 days after starting irbesartan 300 mg and hydrochlorothiazide 12.5 mg for treatment of hypertension.

Unsaturated iron binding capacity and transferrin saturation are equally reliable in detection of HFE hemochromatosis.

Objective: Unsaturated iron binding capacity (UIBC) has been proposed as an inexpensive alternative to transferrin saturation for detection of hereditary hemochromatosis. The aim of this study was to compare, in a hospital referral clinic, the reliability of transferrin saturation and UIBC for detection of subjects who have inherited HFE (HLA-asociated iron overload) genotypes predisposing to iron overload.

Methods: Serum transferrin saturation, UIBC, and ferritin were tested in 110 consecutive subjects.

Genetic testing for HFE hemochromatosis in Australia: the value of testing relatives of simple heterozygotes.

Background: It is unclear whether screening of relatives of C282Y and H63D heterozygotes (other than compound heterozygotes) for hemochromatosis will detect sufficient numbers of cases to justify introduction of this screening strategy.

Methods: Conditional probabilities were determined using published Australian allele frequencies and penetrance data to determine the detection rate of hemochromatosis by testing the siblings and offspring of heterozygotes (subjects with only one HFE mutation).

Results: The number of individuals who are at risk of developing increased body iron stores because of HFE mutations is substantially higher (1 in 80) than previously estimated.