Hans K Blomquist

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Fifteen cases of intervertebral disc calcifications have been diagnosed in Umeå during a period of 14 years. In the literature up to now about 100 cases of intervertebral disc calcification have been reported. Our findings suggest that these calcifications are not as rare as has been stated. There are both symptomatic and silent cases. When present the(More)
All mentally retarded (MR) subjects in a northern Swedish county were assessed for the occurrence of active epilepsy on a prevalence day. Active epilepsy was found in 299 subjects (20.2% of those with MR) corresponding to a crude prevalence rate of 1.2/1000 inhabitants. The age-specific prevalence for 0-9 years was higher for females than for males, while(More)
In an extensive etiological study of an unselected series of mildly mentally retarded children (MMR) (IQ 50-70) born 1959-1970 in a northern Swedish county, 5 of 110 boys (4.5%) and none of 61 girls had a fragile site on the distal end of the X-chromosome (Fra Xq 28). Consequently fragile X was seen in 2.9% of the total series of 171 children. In a combined(More)
CSF-hydrodynamic investigation using the constant pressure infusion method was used in children. The CSF resting pressure was recorded and the CSF formation rate was measured. The conductance of the CSF outflow pathways and the pressure in the sagittal sinus were calculated. The method was used in children with suspicion of disturbed CSF hydrodynamics due(More)
We demonstrate that isolated glycerol kinase (GK) deficiency in three families results from mutation of the Xp21 GK gene. GK mutations were detected in four patients with widely differing phenotypes. Patient 1 had a splice-site mutation causing premature termination. His general health was good despite absent GK activity, indicating that isolated GK(More)
During a 20-month period, an attempt was made to find all children with unprovoked non-febrile seizures. The first attendance and incidence rates were 95 and 89/100,000, respectively, in the age group 0-15 years. These figures are lower than those found 10 years earlier in the same area. The highest incidence was during the first year of life and there was(More)
PURPOSE A cohort consisting of all persons with known mental retardation (MR) and living in a Swedish province on December 31, 1985, was followed for 7 years (1987-1992) to study the mortality pattern. METHODS A file of the cohort was linked to the cause-of-death pattern of the general population in the study area. RESULTS One hundred twenty-four deaths(More)
UNLABELLED The objective of this study is to determine whether use of lidocaine-prilocaine 5% cream (EMLA) and oral glucose decreases pain associated with diphteria-pertussis-tetanus (DPT) immunization in 3-month-old infants. DESIGN randomized, double-blind, controlled trial in outpatient paediatric practice in northern Sweden. EMLA or placebo was applied(More)
Reports on dental abnormalities in connection with hypophosphatasia almost exclusively describe changes in primary teeth. A 23-year-old man with hypophosphatasia, first diagnosed at the age of 8 months, is described; histologically and radiographically verified signs of the condition were present in the permanent dentition. The findings included a reduced(More)