Sex differences in the control of plasma concentrations and urinary excretion of glycine betaine in patients attending a lipid disorders clinic.

Objectives: To find whether the control of betaine metabolism differs between male and female patients and identify the effects of insulin and other hormones.

Design And Methods: Data from non-diabetic lipid clinic patients (82 female symbol and 76 male symbol) were re-analyzed by sex. Data on insulin, thyroid hormones and leptin were included in models to identify factors affecting the circulation and excretion of betaine and its metabolites.

Double complex mutations involving F8 and FUNDC2 caused by distinct break-induced replication.

Genomic rearrangements are a well-recognized cause of genetic disease and can be formed by a variety of mechanisms. We report a complex rearrangement causing severe hemophilia A, identified and further characterized using a range of PCR-based methods, and confirmed using array-comparative genomic hybridization (array-CGH). This rearrangement consists of a 15.

Concentration response to the coenzyme Q supplement Q-Gel in human volunteers.

Coenzyme Q (CoQ) is essential for every cell in the body, and deficiency has been implicated in many diseases. Studies to confirm the benefit of supplementation require efficacious supplementation. Previously we found Q-Gel to be highly bioavailable.

An abnormal urinary excretion of glycine betaine may persist for years.

Objectives: Does abnormal betaine excretion persist?

Design And Methods: Patients (10) with abnormal excretion in 1998 were recalled in 2005. Subsequent urine samples were collected on 4 days from persistently abnormal subjects.

Results: Half the 1998 abnormal patients were abnormal in 2005.

Lungfish albumin is more similar to tetrapod than to teleost albumins: purification and characterisation of albumin from the Australian lungfish, Neoceratodus forsteri.

Lobe-finned fish, particularly lungfish, are thought of as the closest extant relatives to tetrapods. Albumin, the major vertebrate plasma protein, has been well studied in tetrapods, but there exists no comparative study of the presence and characteristics of albumin in lobe-finned fish versus other vertebrates. There is a controversy over the presence of albumin in fish, although it is present in salmonids and lamprey.

Prospective validation of cerebrospinal fluid bilirubin in suspected subarachnoid haemorrhage.

Background: The recommended spectrophotometric scanning for diagnosis of subarachnoid haemorrhage (SAH) is relatively expensive, not fully automated and often requires expert interpretation. Analysis of cerebrospinal fluid (CSF) bilirubin offers an alternative approach and may obviate the need for scanning and, hence, we undertook a prospective validation study.

Methods: CSF bilirubin and spectrophotometric scans were compared from 193 patients in our institution over a two-year period and for this 162 clinical records (83.

Inter- and intra-individual variations in normal urinary glycine betaine excretion.

Objectives: To establish whether normal human subjects excrete glycine betaine at a constant rate.

Design And Methods: Urine was collected from ten normal healthy male subjects for 14 days, during which fluid intake was systematically varied from <800 mL to >3 L per day. Glycine betaine, sorbitol and creatinine excretions were estimated per day and as millimole per mol creatinine.

Dimethylthetin treatment causes diffuse alveolar lung damage: a pilot study in a sheep model of Continuous Ambulatory Peritoneal Dialysis (CAPD).

Total plasma homocysteine (Hcy) concentration correlates with risk of vascular disease. Over 80% of chronic renal failure patients have elevated plasma Hcy and a 10-20 times higher incidence of vascular disease. Glycine betaine lowers plasma Hcy through methylation catalysed by betaine-homocysteine methyltransferase (BHMT).

Autosomal recessive hypercholesterolaemia: discrimination of ARH protein and LDLR function in the homozygous FH phenotype.

Background: Phenocopies of homozygous familial hypercholesterolemia (hoFH) having autosomal recessive inheritance, were recently found to arise from defects in the LDL receptor (LDLR) adapter protein, called ARH, which facilitates the clearance of circulating LDL. Discrimination between the two causes of the phenotype at a clinical level may not be possible when parents display moderate hypercholesterolaemia. An effective strategy is thus required to identify the appropriate mechanism for the disorder.

Comparison of two prediction equations with radionuclide glomerular filtration rate: validation in routine use.

Background: Recent guidelines recommend automatic reporting of estimated glomerular filtration rate (eGFR) using the abbreviated Modification of Diet in Renal Disease (MDRD) equation with every request for plasma creatinine. We evaluated the performance of the MDRD and Cockcroft-Gault equations in routine use compared with a radionuclide GFR method.

Method: Data collected on 601 patients aged 16-85 years who had undergone radionuclide GFR and eGFR was calculated using both equations for each patient.

Sweat testing for cystic fibrosis: A review of New Zealand laboratories.

Background: Evolving diagnostic criteria for cystic fibrosis, broadening of the populations being tested and the need to interpret intermediate sweat test results have imposed a much greater need to standardize the collection and analysis of sweat.

Aim: To identify variations in sweat testing in New Zealand laboratories and compare these with guidelines from the UK and the USA.

Methods: All laboratories in New Zealand offering sweat testing were identified and data collected from these laboratories by structured questionnaire.

Mutant fibrinogen cleared from the endoplasmic reticulum via endoplasmic reticulum-associated protein degradation and autophagy: an explanation for liver disease.

The endoplasmic reticulum (ER) quality control processes recognize and remove aberrant proteins from the secretory pathway. Several variants of the plasma protein fibrinogen are recognized as aberrant and degraded by ER-associated protein degradation (ERAD), thus leading to hypofibrinogenemia. A subset of patients with hypofibrinogenemia exhibit hepatic ER accumulation of the variant fibrinogens and develop liver cirrhosis.

Carbon catabolite repression regulates amino acid permeases in Saccharomyces cerevisiae via the TOR signaling pathway.

We have identified carbon catabolite repression (CCR) as a regulator of amino acid permeases in Saccharomyces cerevisiae, elucidated the permeases regulated by CCR, and identified the mechanisms involved in amino acid permease regulation by CCR. Transport of l-arginine and l-leucine was increased by approximately 10-25-fold in yeast grown in carbon sources alternate to glucose, indicating regulation by CCR. In wild type yeast the uptake (pmol/10(6) cells/h), in glucose versus galactose medium, of l-[(14)C]arginine was (0.

Dual porphyria with mutations in both the UROD and HMBS genes.

The porphyrias are a group of inborn or acquired disorders of haem synthesis that can result in neurovisceral or dermatological symptoms. Diagnosis is usually made using a combination of clinical presentation and biochemical parameters. This case report describes a 25-year-old woman clinically presenting with a rash and then found to have elevated porphobilinogen concentrations in her urine.

Hb taradale [beta82(EF6)Lys-->Arg]: a novel mutation at a 2,3-diphosphoglycerate binding site.

Hb Taradale [beta82(EF6)Lys-->Arg] was initially detected as a split Hb A0 peak on Hb A1c, monitoring. Red cell parameters, hemoglobin (Hb) electrophoresis and stability tests were normal. Mass spectrometry (ms) clearly identified a variant beta chain with a mass increase of 28 Da and peptide mapping located the mutation site to peptide betaT-9.

Novel sequence insertion in a Mâori patient with transfusion-dependent beta-thalassaemia.

Although beta-thalassaemia is common throughout the world, it has not been previously described in Polynesia. We report a novel sequence insertion where homozygosity for the defect results in transfusion-dependent anaemia. The repeated 45 base pair (bp) insertion causes duplication of the start codon and consequent transcription from the original initiation code would be predicted to lead to the production of an irrelevant seven-residue peptide, while residual translation from the novel initiation site would result in diminished yields of beta-globin and consequent clinical beta(+)-thalassaemia.

Clinical indications for the investigation of porphyria: case examples and evolving laboratory approaches to its diagnosis in New Zealand.

Patients with porphyria present in a diverse and unusual variety of ways and most clinicians will see only a few cases, if any, during their professional lives. Porphyria may present (1) with acute symptoms, which may be abdominal pain, neurological or psychiatric; (2) with skin rash or photosensitivity; or (3) with a putative family history. Screening for latent porphyria has been greatly facilitated by fluorescence emission scanning of plasma and by mutational analysis.