MRI Of the Brain, EEG Sleep Spindles and SPECT in the Early Diagnosis of Infantile Neuronal Ceroid Lipofuscinosis

Two patients with infantile neuronal ceroid lipofuscinosis are presented whose clinical diagnosis was based on the typical clinical picture, together with absent sleep spindles and MRI findings (hypointense thalami and hyperintense periventricular white matter) as early as 18 months in one girl. In addition to a flat cortical SEP, these abnormalities appeared earlier than the typical ERG and VEP findings used previously for clinical diagnosis of this condition. MRI of the other patient showed the same changes and EEG sleep spindles were absent by two years.     

Physical inactivity in patients with rheumatoid arthritis: data from twenty-one countries in a cross-sectional, international study

OBJECTIVE: Regular physical activity is associated with decreased morbidity and mortality. Traditionally, patients with rheumatoid arthritis (RA) have been advised to limit physical exercise. We studied the prevalence of physical activity and associations with demographic and disease-related variables in patients with RA from 21 countries. METHODS: The Questionnaires in Standard Monitoring of Patients with Rheumatoid Arthritis (QUEST-RA) is a cross-sectional study that includes a self-report questionnaire and clinical assessment of nonselected consecutive outpatients with RA who are receiving usual clinical care. Frequency of physical exercise (>or=30 minutes with at least some shortness of breath, sweating) is queried with 4 response options: >or=3 times weekly, 1-2 times weekly, 1-2 times monthly, and no exercise. RESULTS: Between January 2005 and April 2007, a total of 5,235 patients from 58 sites in 21 countries were enrolled in QUEST-RA: 79% were women, >90% were white, mean age was 57 years, and mean disease duration was 11.6 years. Only 13.8% of all patients reported physical exercise>or=3 times weekly. The majority of the patients were physically inactive with no regular weekly exercise: >80% in 7 countries, 60-80% in 12 countries, and 45% and 29% in 2 countries, respectively. Physical inactivity was associated with female sex, older age, lower education, obesity, comorbidity, low functional capacity, and higher levels of disease activity, pain, and fatigue. CONCLUSION: In many countries, a low proportion of patients with RA exercise. These data may alert rheumatologists to motivate their patients to increase physical activity levels.     

Compliance with treatment of rheumatoid arthritis

Rheumatoid arthritis (RA) is a chronic, progressive, debilitating disease that demands continuous therapy with multiple medications. Noncompliance with disease-modifying drugs may cause disease flares, preventable functional impairment, unnecessary treatment changes, and loss of health care resources. The aim of the current study was to explore self-reported compliance with treatment and the factors contributing to this compliance using a representative sample of an RA patient population in Estonia. Two thousand patients diagnosed with RA were randomly selected from the Estonian Health Insurance Fund database. The eligible response rate of the study was 60%. Using prestructured questionnaires, the following information about the disease and treatment was evaluated: self-reported compliance with treatment, reasons for noncompliance, disease history, sociodemographic variables, health care utilization, and satisfaction with health care providers. The self-reported compliance rate was 80.3%, reflecting the percentage of patients who reported that they always took their medications exactly as described. The most often reported reasons for noncompliance were side effects and fear of side effects. Compliance was found to be the lowest in a group of younger and active patients with higher income. Higher frequency of visits to the rheumatologist, satisfaction with health care providers, and sufficient information about RA treatment correlated with better compliance.     

Neurocognitive functioning in children with type-1 diabetes with and without episodes of severe hypoglycaemia

Previous studies have shown that recurrent severe hypoglycaemia can cause long-term cognitive impairment in children with type-1 diabetes, but the results are controversial, possibly due to the heterogeneity of samples and lack of comprehensive neuropsychological assessments of children. The aim of this study was to assess the effects of diabetes and severe hypoglycaemia on the neurocognitive functioning of children with a standardized, wide age-range neuropsychological test battery designed for the assessment of children. Eleven children with diabetes and a history of severe hypoglycaemia, 10 children with diabetes without a history of severe hypoglycaemia, and 10 healthy control children (a total of 31 children: 14 males and 17 females, age range 5 years 6 months to 11 years 11 months, mean 9 years 4 months, SD 1 year 11 months) were studied using the Wechsler Intelligence Scale for Children-Revised (WISC-R) and the NEPSY, a Developmental Neuropsychological Assessment. The NEPSY assessed development in attention and executive functions, language, sensorimotor functions, visuospatial processing, and learning and memory. Children with a history of severe hypoglycaemia had more neuropsychological impairments, more learning difficulties (as reported by parents), and needed more part-time special education than those in the other groups. Significant differences were found in verbal short-term memory and phonological processing. Results suggest that severe hypoglycaemia is a risk factor for learning due to deficits in auditory-verbal functioning.     

Effects of circumferential rigid wrist orthoses in rehabilitation of patients with radius fracture at typical site

BACKGROUND: The use of orthoses is a questionable rehabilitation method for patients with the distal radius fracture at typical site. The aim of this study was to compare the effects of the rehabilitation on patients with radius fracture at the typical site, who wore circumferential static wrist orthoses, with those who did not wear them. METHODS: Thirty patients were divided into 3 equal groups, 2 experimental groups, and 1 control group. The patients in the experimental groups were given the rehabilitation program of wearing serially manufactured (off-the-shelf), as well as custom-fit orthoses. Those in the control group did not wear wrist orthoses. Evaluation parameters were pain, edema, the range of the wrist motion, the quality of cylindrical, spherical, and pinch-spherical grasp, the strength of pinch and hand grasp, and patient's assessment of the effects of rehabilitation. RESULTS: No significant difference in the effects of rehabilitation on the patients in experimental groups as opposed to control group was found. Patients in the first experimental group, and in control group were more satisfied with the effects of rehabilitation, as opposed to the patients in the second experimental group (p<0.05). CONCLUSION: The effects of circumferential static wrist orthoses in the rehabilitation of patients with distal radius fracture at the typical site were not clinically significant. There was no significant difference between the custom and off-the-shelf orthoses.     

Cerebrospinal fluid insulin-like growth factor (IGF-1) and insulin-like growth factor binding protein (IGFBP-2) in children with acute lymphoblastic leukemia

BACKGROUND: Insulin-like growth factor-1 (IGF-1) has specific effects on axonal growth and myelination, low CSF IGF-1 levels being found in some severe neurologic diseases. We studied the levels of CSF IGF-1 and IGF binding protein-2 (IGFBP-2) in children with ALL to find out whether these levels correlated with any of the neurological deficits observed. METHODS: IGF-1 and IGFBP-2 levels were prospectively measured by radioimmunoassay in the CSF of 14 children with ALL throughout the ALL chemotherapy. These were compared with the levels of 16 control subjects and of patient groups with severe neurological diseases. RESULTS: During induction, the children with ALL had subnormal CSF IGF-1 levels which improved after 2 months. In seven individuals, two with severe vincristine polyneuropathy, the subnormal levels persisted throughout the chemotherapy. CONCLUSIONS: Our findings suggest impairment of the IGF-1 trophic system during induction by a mechanism so far unknown. Correlation with disturbed neuronal function could not be statistically proven.