Biomarkers of ageing in New Zealand VLBW young adults and controls.

Background: There is individual variation in physiological ageing. Former very low birthweight (VLBW; birthweight < 1500 g) young adults may have less satisfactory measurements on some physiological parameters than term controls. We hypothesized that a summation score of physiological biomarkers that change with age would show VLBW adults to have a more advanced physiologic age than controls.

Compound Heterozygous Inheritance of Mutations in Coenzyme Q8A Results in Autosomal Recessive Cerebellar Ataxia and Coenzyme Q Deficiency in a Female Sib-Pair.

Autosomal recessive ataxias are characterised by a fundamental loss in coordination of gait with associated atrophy of the cerebellum. There is significant clinical and genetic heterogeneity amongst inherited ataxias; however, an early molecular diagnosis is essential with low-risk treatments available for some of these conditions. We describe two female siblings who presented early in life with unsteady gait and cerebellar atrophy.

Laboratory performance of sweat conductivity for the screening of cystic fibrosis.

Background: There are several complementary English-language guidelines for the performance of the sweat chloride test. These guidelines also incorporate information for the collection of conductivity samples. However, recommendations for the measurement and reporting of sweat conductivity are less clear than for sweat chloride.

Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2.

We have used whole-exome sequencing in ten individuals from four unrelated pedigrees to identify biallelic missense mutations in the nuclear-encoded mitochondrial inorganic pyrophosphatase (PPA2) that are associated with mitochondrial disease. These individuals show a range of severity, indicating that PPA2 mutations may cause a spectrum of mitochondrial disease phenotypes. Severe symptoms include seizures, lactic acidosis, cardiac arrhythmia, and death within days of birth.

Acquired and congenital fast albumin bands; insights from electrospray TOF analysis of whole plasma into drug binding and albumin recycling.

Objectives: To define the underlying cause of unusual fast albumin bands detected on plasma protein electrophoresis of two patients.

Method: Plasma was examined by electrospray time-of-flight mass spectrometry (TOF MS) to assess the possibility of congenital or acquired structural modifications.

Results: In one patient whole protein MS indicated a drop of 486Da in the mass of 5.

Time trends, ethnicity and risk factors for eczema in New Zealand children: ISAAC Phase Three.

Background: Eczema is a common chronic disease which has significant morbidity and costs for children and their families. Phase One (1993) of the International Study of Asthma and Allergies in Childhood (ISAAC) found a high prevalence of symptoms of eczema in New Zealand.

Objective: In Phase Three (2001-3) we aimed to answer these three questions: Is the prevalence of eczema changing over time?; Are there ethnic differences in prevalence?; and What are the risk factors for eczema?

Methods: Five New Zealand centres participated in ISAAC Phases One and Three using the same methodology.

Time trends and risk factors for rhinoconjunctivitis in New Zealand children: an International Study of Asthma and Allergies in Childhood (ISAAC) survey.

Aim: To investigate prevalence, time trends and factors associated with rhinitis and rhinoconjunctivitis not related to acute infections in New Zealand.

Methods: The International Study of Asthma and Allergies in Childhood (ISAAC) surveyed children aged 6-7 and 13-14 years for symptoms of these conditions. Five New Zealand centres were surveyed on two occasions (Phase One and Phase Three) 8-10 years apart.

Electrolytes in sick neonates - which sodium is the right answer?

Introduction: Hypoproteinaemia leads to spuriously high-sodium values when measured by indirect ion-selective electrodes (ISE) as used in main laboratory analysers compared with direct ISE employed in point-of-care analysers (POCT). The authors, therefore, investigated the occurrence of hypoalbuminaemia and its effect on measured sodium from POCT and the main laboratory analyser of neonatal intensive-care samples.

Method: Sodium, in paired retrospective samples, measured by the main laboratory and neonatal unit blood-gas (POCT) analysers were compared.

Trimethylaminuria: causes and diagnosis of a socially distressing condition.

Trimethylaminuria is a disorder in which the volatile, fish-smelling compound, trimethylamine (TMA) accumulates and is excreted in the urine, but is also found in the sweat and breath of these patients. Because many patients have associated body odours or halitosis, trimethylaminuria sufferers can meet serious difficulties in a social context, leading to other problems such as isolation and depression. TMA is formed by bacteria in the mammalian gut from reduction of compounds such as trimethylamine-N-oxide (TMAO) and choline.

High sensitivity troponin outperforms contemporary assays in predicting major adverse cardiac events up to two years in patients with chest pain.

Background: Previous studies have shown a risk of subsequent major adverse cardiovascular events (MACEs) in patients with suspected acute coronary syndromes (ACSs) and elevated cardiac troponin. The aim of this study was to compare prognostic utility of high-sensitivity troponin with contemporary troponin assays in such patients.

Methods: In total, 332 patients with suspected ACS were investigated between November 2006 and April 2007; all were followed for two years.

Appreciating and developing compassionate care in an acute hospital setting caring for older people.

Background: There is increasing emphasis in policy, research and practice on the importance of caring in health care. Indeed there is much debate about how to enhance the caring cultures within which health care is provided. This paper argues that a proper systematic analysis of caring practice that works well in care environments may help us to move towards a realistic model for the future which supports staff, patients and families to give and receive compassionate care.

Spectrum of MECP2 mutations in New Zealand Rett syndrome patients.

Background: Classical Rett syndrome is a severe neurodevelopmental X-linked dominant disorder affecting 1/15,000 girls worldwide. MECP2 has been identified as the predominant gene associated with Rett syndrome. Approximately 65-85% of patients with classical Rett syndrome have identifiable MECP2 mutations.

Cross-sectional survey of risk factors for asthma in 6-7-year-old children in New Zealand: International Study of Asthma and Allergy in Childhood Phase Three.

Aim: To identify risk factors for asthma in primary school-aged children in New Zealand.

Methods: A cross-sectional survey of 10,873 6-7-year-old children in Auckland, Bay of Plenty, Nelson and Christchurch (a response rate of 85.2%).

Sweat testing for cystic fibrosis: standards of performance in Australasia.

Background: Accurate measurement of sweat chloride concentration is essential for the diagnosis of cystic fibrosis (CF). We surveyed all laboratories enrolled in the Royal College of Pathologists of Australasia Quality Assurance Program (QAP) for Sweat Electrolytes to determine how closely they comply with the Australian Guidelines for the performance of the sweat test for the diagnosis of CF.

Methods: A detailed questionnaire covering most aspects of sweat collection and analysis was sent to all participating laboratories in 2007.

Healthcare-associated Infections: epidemiology, prevention, and therapy.

Reducing nosocomial infection rates is a major component of healthcare improvement. This article reviews the epidemiology, prevention, and therapy for some of the most common healthcare-associated infections, including central line-associated bloodstream infections and catheter-associated urinary tract infections, and 3 common organisms: methicillin-resistant Staphylococcus aureus, multidrug- resistant gram-negative bacteria, and Clostridium difficile.

Has the prevalence and severity of symptoms of asthma changed among children in New Zealand? ISAAC Phase Three.

Aim: To investigate time trends in prevalence of symptoms of asthma by repeating, during 2001-3 (Phase Three), the International Study of Asthma and Allergies in Childhood (ISAAC) Phase One study that was conducted in New Zealand in 1992-3.

Methods: ISAAC Phase Three involved repeating the cross-sectional questionnaire survey of two age groups of school children (6-7 years and 13-14 years, children and adolescents respectively) using the same methodology as Phase One. In New Zealand it was conducted in Auckland, Bay of Plenty, Christchurch, Nelson, and Wellington.

Acceptance of rapid HIV testing among medical inpatients in New York City.

Early diagnosis of HIV infection is important for both individual and public health. This study examined patient acceptability of routine, voluntary HIV testing in a New York City hospital serving East Harlem, a diverse community with an HIV seroprevalence of 2.6%.

An unusual cause of severe metabolic acidosis.

A 50-year-old man was transferred to the intensive care unit with high anion gap metabolic acidosis. Investigations suggested a diagnosis of pyroglutamic acidaemia. Factors contributing to the acidosis were medications (paracetamol and flucloxacillin), sepsis and renal failure.

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.