Accuracy of Screening Tools for Pap Smears in General Practice.

Background: Data extraction tools (DETs) are increasingly being used for research and audit of general practice, despite their limitations.Objective This study explores the accuracy of Pap smear rates obtained with a DET compared to that of the Pap smear rate obtained with a manual file audit.

Method: A widely available DET was used to establish the rate of Pap smears in a large multi-general practice (multi-GP) in regional New South Wales followed by a manual audit of patient files.

Growing up with spinal muscular atrophy with respiratory distress (SMARD1).

Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is an inherited neuromuscular condition resulting from recessive mutations in the immunoglobulin mu-binding protein (IGHMBP2) gene. Affected individuals characteristically present in infancy with progressive distal weakness and respiratory distress secondary to diaphragmatic weakness. Considerable clinical heterogeneity has been described both in its presentation and phenotype in childhood; however little data pertaining to phenotype in adulthood have been reported to date.

Congenital myopathies with secondary neuromuscular transmission defects; a case report and review of the literature.

Congenital myopathies are a clinically and genetically heterogeneous group of disorders characterized by early onset hypotonia, weakness and characteristic, but not pathognomonic, structural abnormalities in muscle fibres. The clinical features overlap with muscular dystrophies, myofibrillar myopathies, neurogenic conditions and congenital myasthenic syndromes. We describe a case of cap myopathy with myasthenic features due to a mutation in the TPM2 gene that responded to anticholinesterase therapy.

Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome.

The first described patients with pyridox(am)ine 5'-phosphate oxidase deficiency all had neonatal onset seizures that did not respond to treatment with pyridoxine but responded to treatment with pyridoxal 5'-phosphate. Our data suggest, however, that the clinical spectrum of pyridox(am)ine 5'-phosphate oxidase deficiency is much broader than has been reported in the literature. Sequencing of the PNPO gene was undertaken for a cohort of 82 individuals who had shown a reduction in frequency and severity of seizures in response to pyridoxine or pyridoxal 5'-phosphate.

A combination of Botulinum Toxin A therapy and Functional Electrical Stimulation in children with cerebral palsy--a pilot study.

Background: Among the ambulant population of children with spastic cerebral palsy (CP), dynamic equinus is one of the most common form of gait deviation that is encountered.

Objective: To investigate the combined effects of Functional Electrical Stimulation (FES) and Botulinum Toxin A (BTXA) therapy in children with spastic CP, and to demonstrate the feasibility of this combination therapy.

Methods: A single-subject design with repeated measures was adopted.

Health-related quality-of-life and behavioural outcome in survivors of childhood meningitis.

Objective: To describe behavioural and health-related quality-of-life (HRQoL) outcomes in survivors of childhood meningitis and identify variables predictive of psychosocial outcome.

Methods: Psychosocial outcomes were measured via parent and teacher report using the Strengths and Difficulties Questionnaire (SDQ) and the Paediatric Quality of Life Inventory (PedsQL Core & Fatigue versions). Participants were 346[corrected] consecutive survivors admitted to a regional children's hospital (1991-2007).

Pyruvate dehydrogenase E2 deficiency: a potentially treatable cause of episodic dystonia.

The association of progressive episodic dystonia and learning disability with distinctive neuroimaging findings may lead to consideration of atypical Pantothenate Kinase Associated Neurodegeneration (PKAN) and investigations directed towards that diagnosis. Recent reports indicate that deficiency of dihydrolipoamide acetyltransferase, the E2 component of the pyruvate dehydrogenase complex, may present similarly, and that this disorder should also be considered in the differential diagnosis. We describe two sisters with early onset episodic dystonia and pyruvate dehydrogenase deficiency caused by defects in the E2 subunit.

Brain involvement in muscular dystrophies with defective dystroglycan glycosylation.

Objective: To assess the range and severity of brain involvement, as assessed by magnetic resonance imaging, in 27 patients with mutations in POMT1 (4), POMT2 (9), POMGnT1 (7), Fukutin (4), or LARGE (3), responsible for muscular dystrophies with abnormal glycosylation of dystroglycan (dystroglycanopathies).

Methods: Blinded review of magnetic resonance imaging brain scans from 27 patients with mutations in 1 of these 5 genes.

Results: Brain magnetic resonance images were normal in 3 of 27 patients; in another 5, only nonspecific abnormalities (ventricular dilatation, periventricular white matter abnormalities, or both) were seen.

Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C.

Mutations in the LMNA gene result in diverse phenotypes including Emery Dreifuss muscular dystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy with conduction system disease, Dunnigan type familial partial lipodystrophy, mandibulo acral dysplasia, Hutchinson Gilford progeria syndrome, restrictive dermopathy and autosomal recessive Charcot Marie Tooth type 2. The c.1930C > T (R644C) missense mutation has previously been reported in eight unrelated patients with variable features including left ventricular hypertrophy, limb girdle muscle weakness, dilated cardiomyopathy and atypical progeria.

Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

Aicardi-Goutieres syndrome (AGS) is a genetic encephalopathy whose clinical features mimic those of acquired in utero viral infection. AGS exhibits locus heterogeneity, with mutations identified in genes encoding the 3'-->5' exonuclease TREX1 and the three subunits of the RNASEH2 endonuclease complex. To define the molecular spectrum of AGS, we performed mutation screening in patients, from 127 pedigrees, with a clinical diagnosis of the disease.

The movement disorders of Coffin-Lowry syndrome.

Coffin-Lowry syndrome (CLS) is an X-linked semi-dominant condition with learning difficulties and dysmorphism caused by mutations in the gene RSK2. Originally, epilepsy was reported as a feature. We and others have since described predominantly sound-startle induced drop attacks that have been labelled 'cataplexy', abnormal startle response and hyperekplexia.

Cranial magnetic resonance imaging mistakenly suggests prenatal ischaemia in PEHO-like syndrome.

We describe two sisters with a PEHO-like syndrome. The first-born had early epileptic spasms with hypsarrhythmia, visual inattention with optic atrophy, progressive microcephaly and absence of development. Cranial magnetic resonance imaging revealed periventricular white matter changes.