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. The main outcome measure was identification of possible discrepancies between the rates established. RESULTS: The DET used significantly underestimated the level of cervical screening compared to the manual audit. In some instances, the patient file contained phone/specialist record of Pap smear conducted elsewhere, which accounted for the failure of the DET to detect some smears. Those patients who had Pap smears whose pathology codes differed between time intervals, i.e. from different pathology providers or from within the same provider but using a different code, were less likely to have had their most recent Pap smear detected by the DET (p < 0.001). CONCLUSION: Data obtained from DETs should be used with caution as they may not accurately reflect the rate of Pap smears from electronic medical records.How this fits in DETs are increasingly being used for research and audit of general practice. 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 The DET tested significantly underestimated the level of cervical screening compared to manual screening. Data obtained from DETs should be used with caution as they may not accurately reflect the rate of Pap smears from electronic medical records.

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). One hundred and twelve of 346 (32%) [corrected] returned postal questionnaires and file review confirmed diagnosis in 100 cases. RESULTS: At a mean of 8 years post-illness 32% of parents and 19% of teachers reported clinically significant behavioural difficulties on the SDQ; along with significantly lowered HRQoL on PedsQL measures. Later sequelae such as learning disability and hearing/visual impairment, along with socioeconomic status, independently predicted behavioural and HRQoL outcome on regression analysis. Acute disease complications were associated with later occurrence of epilepsy, learning disability and visual impairment, but not directly with psychosocial outcomes at time of follow-up. CONCLUSIONS: Survivors with these sequelae should be screened for emotional and behavioural difficulties during key developmental transitions such as school entry. These findings strongly support recent UK clinical guidelines (NICE and SIGN) proposing that parents be made aware of possible psychological complications on discharge.

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. The remaining 19 patients had a spectrum of structural defects, ranging from complete lissencephaly in patients with Walker-Warburg syndrome to isolated cerebellar involvement. Cerebellar cysts and/or dysplasia and hypoplasia were the predominant features in four patients. Polymicrogyria (11/27) was more severe in the frontoparietal regions in 6, and had an occipitofrontal gradient in 2. Pontine clefts, with an unusual appearance to the corticospinal tracts, were seen in five patients with a muscle-eye-brain-like phenotype, three patients with POMGnT1, one with LARGE, and one with POMT2 mutations. Prominent cerebellar cysts were always seen with POMGnT1 mutations, but rarely seen in POMT1 and POMT2. Brainstem and pontine abnormalities were common in patients with POMT2, POMGnT1, and LARGE mutations. INTERPRETATION: Our results expand the spectrum of brain involvement associated with mutations in LARGE, POMGnT1, POMT1, and POMT2. Pontine clefts were visible in some dystroglycanopathy patients. Infratentorial structures were often affected in isolation, highlighting their susceptibility to involvement in these conditions.

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. Here we report on the details of nine additional patients in eight families with this mutation. Patients 1 and 2 presented with lipodystrophy and insulin resistance, Patient 1 having in addition focal segmental glomerulosclerosis. Patient 3 presented with motor neuropathy, Patient 4 with arthrogryposis and dilated cardiomyopathy with left ventricular non-compaction, Patient 5 with severe scoliosis and contractures, Patient 6 with limb girdle weakness and Patient 7 with hepatic steatosis and insulin resistance. Patients 8 and 9 are brothers with proximal weakness and contractures. Nonpenetrance was observed frequently in first degree relatives. This report provides further evidence of the extreme phenotypic diversity and low penetrance associated with the R644C mutation. Possible explanations for these observations are discussed.