Copper toxicosis in non-COMMD1 Bedlington terriers is associated with metal transport gene ABCA12.

Wilson's disease, caused by a mutation in the ATP-ase 7B gene, is the only genetically characterised human disease with inhibition of biliary copper excretion and toxic copper accumulation in liver and occasionally brain. A similar copper toxicosis occurs in Bedlington terriers (CT) with liver damage only. Although CT has been associated with a defect in the COMMD1 gene (COMMD1 (del/del)), Bedlington terriers with CT and lacking this mutation are also recognised (non-COMMD1 (del/del)).

Multivariate analyses of factors that affect neonatal screening thyroid stimulating hormone.

Aims: All screening programmes in the UK use a primary thyroid stimulating hormone (TSH) screen for congenital hypothyroidism. Recent attention has been paid to aspects of screening, such as the relation between blood spot TSH levels and birth weight or gestational age. The aim of our study was to determine the factors affecting screening neonatal TSH levels.

Host and environmental reservoirs of infection for bovine digital dermatitis treponemes.

Bovine digital dermatitis (BDD) is a global infectious disease causing lameness of cattle and is responsible for substantial animal welfare issues and economic losses. The causative agents are considered to be spirochetal bacteria belonging to the genus Treponema, which have consistently been identified in BDD lesions worldwide. One potential means of controlling infection is the disruption of transmission; however, the infection reservoirs and transmission routes of BDD treponemes have yet to be elucidated.

Association between bovine digital dermatitis treponemes and a range of 'non-healing' bovine hoof disorders.

This study describes the association between bovine digital dermatitis (BDD) treponemes and three 'non-healing' bovine hoof horn lesions, namely, 'toe necrosis' (TN), 'non-healing white line disease' (nhWLD) and 'non-healing sole ulcer' (nhSU), which are disorders that involve penetration through the horn capsule to involve the corium. In this study, these non-healing disorders (n=44) were identified as foot lesions that exhibited a topical granular appearance, exuded a typical pungent smell, were severely painful to the animal involved, and typically originated from farms where BDD is endemic. Given the similarities between these 'non-healing' lesions and BDD, the authors subjected samples of diseased tissue to PCR assays to detect the presence of DNA of BDD treponemes.

Thyroid function at diagnosis of type I diabetes.

Background: National guidelines recommend that thyroid function is assessed at diagnosis of type I diabetes (TIDM) and annually thereafter. This paper reports an audit of thyroid surveillance in accordance with this guideline.

Patients: 110 patients (66 males), median age 11.

Abnormal urinary steroid profiles in four hypertensive obese children.

Background: There is a poorly understood association between obesity and hypertension. We demonstrated abnormalities of adrenal androgen and cortisol metabolites in four hypertensive obese children.

Patients: Four males (aged 10 to 15 years) were evaluated for systolic blood pressures consistently above the 99.

A novel presentation of inappropriate antidiuretic hormone secretion in Leigh syndrome with the myoclonic epilepsy and ragged red fibers, mitochondrial DNA 8344A>G mutation.

A 17-month-old infant presented with a 2-week history of lethargy, anorexia, and an abnormal respiratory pattern on a previous 4-month history of hypotonia and gross motor delay, suggesting a clinical phenotype of Leigh syndrome. The patient experienced no epileptic seizures. Biochemical investigations were normal other than showing evidence of inappropriate secretion of antidiuretic hormone, and cerebral magnetic resonance imaging (MRI) showed symmetrical lesions in the cervical cord and lower brain stem.

Three year field test of a plant growth promoting rhizobacteria enhanced phytoremediation system at a land farm for treatment of hydrocarbon waste.

Phytoremediation of total petroleum hydrocarbons (TPH) has the potential to be a sustainable waste management technology if it can be proven to be effective in the field. Over the past decade, our laboratory has developed a system which utilizes plant growth promoting rhizobacteria (PGPR) enhanced phytoremediation (PEP) that, following extensive greenhouse testing, was shown to be effective at remediating TPH from soils. This system consists of physical soil manipulation and plant growth following seed inoculation with PGPR.

A reference interval for sweat chloride in infants aged between five and six weeks of age.

Background: This study was designed to establish a reference interval for sweat chloride for infants without evidence of cystic fibrosis (CF), aged between 5 wk and 6 wk, a time when sweat testing is an integral part of newborn screening for CF. In addition, we compared the gold standard method of sweat testing (quantitative pilocarpine iontophoresis [QPIT, coulometry]) with an emerging methodology (Macroduct [ISE]).

Methods: This was a prospective study on healthy infants at 5-6 wk of age.

Tuberculous meningitis: protracted course and clinical response to interferon-gamma.

A 12-year-old girl with protracted tuberculous meningitis received standard chemotherapy and dexamethasone and had a progressive cerebrospinal fluid neutrophilia, raised protein and depressed glucose levels. Her temperature was raised for 5 months until a second course of dexamethasone was given. At week 15, multiple tuberculomas and hydrocephalus were detected followed by acute hydrocephalus (week 58), which required a ventricular-peritoneal shunt.

Biochemical severity of thyroid ectopia in congenital hypothyroidism demonstrates sexual dimorphism.

Background: A recent study suggested that sexual dimorphism affects initial thyroid function in congenital hypothyroidism (CH) but differs according to aetiology of CH.

Aims: To determine if sexual dimorphism was associated with biochemical severity of CH and its aetiology in our large British population.

Methods: We examined retrospectively the initial thyroid function tests of 140 infants diagnosed with CH from screening.

Guanidinoacetate methyltransferase deficiency masquerading as a mitochondrial encephalopathy.

Guanidinoacetate methyltransferase (GAMT) deficiency is a rare disorder of creatine synthesis. We report a patient who presented at 10 months of age with hypotonia and global developmental delay. Subsequently, she developed seizures and choreoathetosis.

Dilated cardiomyopathy and adipic aciduria in nutritional rickets.

Hypocalcemia secondary to nutritional rickets is a rare cause of dilated cardiomyopathy. It is also not a recognized cause of dicarboxylic aciduria. We report the first case of adipic aciduria, presenting with dilated cardiomyopathy, secondary to hypocalcemia.

Prevalence of the group 1 Dermatophagoides allergens Der p 1 and Der f 1 in homes with no dogs, healthy dogs and Dermatophagoides-sensitized atopic dogs in Liverpool.

Dermatophagoides farinae is a frequent allergen in canine atopic dermatitis despite its reported scarcity in the UK, and the aim of this study was to determine whether dogs were uniquely exposed to this species. Der f 1 and Der p 1 in dust collected from living room carpets, bedroom carpets and dog beds of 13 houses with no dogs, 13 with healthy dogs, and 16 with Dermatophagoides-sensitized atopic dogs were quantified by ELISA. Der p 1 levels (microg g(-1) house dust) were significantly higher than Der f 1 in living rooms (Der p 1 median = 1.

Multivariate analysis on factors affecting suppression of thyroid-stimulating hormone in treated congenital hypothyroidism.

Aims: To determine the factors which influence the suppression of thyroid-stimulating hormone (TSH) in infants with congenital hypothyroidism (CH) following treatment.

Methods: We examined retrospectively the patterns of thyroid function tests from diagnosis to 3 years of age in 140 infants diagnosed with CH from screening. Patients were classified into 3 groups: athyreosis, ectopia and presumed dyshormonogenesis on the basis of thyroid scans.

Extensive interbreed, but minimal intrabreed, variation of DLA class II alleles and haplotypes in dogs.

The DLA class II genes in the dog major histocompatibility complex are highly polymorphic. To date, 52 DLA-DRB1, 16 DLA-DQA1 and 41 DLA-DQB1 allelic sequences have been assigned. The aim of this study was to examine the intrabreed and interbreed variation of DLA allele and haplotype frequencies in dogs, and to ascertain whether conserved DLA class II haplotypes occur within and between different breeds.

Evidence of Bartonella henselae infection in cats and dogs in the United Kingdom.

Sera from cats and dogs in the UK were tested by ELISA for antibodies to Bartonella henselae. Seropositivity was confirmed in 28 of 69 pet cats (40.6 per cent), 33 of 79 feral cats (41.

Development and progression of microalbuminuria in a clinic sample of patients with insulin dependent diabetes mellitus.

The evolution of abnormal albumin excretion and its association with suggested risk factors were studied in 233 children with insulin dependent diabetes mellitus (IDDM) attending a single paediatric diabetic clinic over an eight year period. Yearly albumin:creatinine ratios (ACR; measured in mg/mmol) in early morning urine samples, glycated haemoglobin (HbA1c), and blood pressure were recorded. Thirty four (14.

Hypoalbuminaemia in surgical neonates receiving parenteral nutrition.

The aim of this study was to define the prevalence of hypoalbuminaemia (HA), its predisposing factors, and its effect on outcome in infants. Fifty-six consecutive infants receiving parenteral nutrition (PN) for gastrointestinal disease were divided into two groups according to their lowest measured serum albumin level. The reference range (27.