[«A most strange instance of illness in several siblings»--first description of a rare neurological disease in 1830?].

Was district medical officer Jensen the first doctor to describe patients with Pantothenate Kinase-Associated Neurodegeneration (PKAN) in Volda in 1830? A case series of four siblings with the same disease written by district medical officer Peter Jensen (1799-1832) in Aalesund in 1830, was published in the Norwegian medical journal Eyr in 1832. The children, who were healthy almost up to school age, developed dystonic involuntary movements and deformities in all extremities, lost their ability to speak and were emaciated before they died at around the age of nine years. Further information about the family and a fifth affected child has been found in the parish records.

Clinical and muscle biopsy findings in Norwegian paediatric patients with limb girdle muscular dystrophy 2I.

Aim: To describe patients diagnosed with limb girdle muscular dystrophy 2I (LGMD2I) in our paediatric departments between 2004 and 2012.

Methods: The hospital charts of 17 patients presenting for evaluation at a mean age of 7.8 years (range 1-13 years) were retrospectively reviewed.

[Assessment of ADHD with EEG].

Background: Many children with ADHD develop epilepsy, and approximately 20% of children with epilepsy also have ADHD. In this article we discuss the use of EEG in connection with ADHD in children, with emphasis on the diagnosis of comorbid epilepsy.

Method: The article is based on a literature search in PubMed, personal literature archives and the authors' own experience with the use of EEG, treatment of epilepsy and the diagnosis and treatment of ADHD in children and adolescents.

Finite element modeling and testing of a deformable carbon fiber reinforced polymer mirror.

Thin-shelled composite mirrors have been recently proposed for use as deformable mirrors in optical systems. Large-diameter deformable composite mirrors can be used in the development of active optical zoom systems. We present the fabrication, testing, and modeling of a prototype 0.

[Epilepsy in children in the Sunnmøre District].

Background: The intention of this retrospective study was to collect information on epilepsy in children in the catchment area of the Sunnmøre Hospital Trust, to compare the findings with other Norwegian and international studies and to assess the medical services for this patient group.

Material And Methods: We studied hospital records for all children born in the period 1989-2003 (a population of 30,106), and estimated the point prevalence for the date 31.12.

Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome.

Background: The Björnstad syndrome, an autosomal recessive disorder associated with sensorineural hearing loss and pili torti, is caused by mutation of a previously unidentified gene on chromosome 2q34-36.

Methods: Refined genetic mapping and DNA sequencing of 44 genes between D2S2210 and D2S2244 revealed BCS1L mutations. Functional analyses elucidated how BCS1L mutations cause the Björnstad syndrome.

Homozygosity mapping of a third Joubert syndrome locus to 6q23.

Background: Joubert syndrome (JS) is a recessively inherited disorder characterised by hypotonia at birth and developmental delay, followed by truncal ataxia and cognitive impairment, characteristic neuroimaging findings (cerebellar vermis hypoplasia, "molar tooth sign") and suggestive facial features. JS is clinically heterogeneous with some patients presenting with breathing abnormalities in the neonatal period, oculomotor apraxia, retinal dystrophy, retinal coloboma, ptosis, hexadactyly, and nephronophtisis or cystic dysplastic kidneys. JS is also genetically heterogeneous, with two known loci, on 9q34 (JBTS1) and 11p11-q12 (CORS2), representing only a fraction of cases.

Enhancement of erythropoiesis by erythropoietin, bovine protein and energy fortified mother's milk during anaemia of prematurity.

Twenty-four premature infants, < 32 weeks gestational age, were randomly assigned in a double-blind, placebo-controlled trial to 6 weeks of treatment with either recombinant human erythropoietin (rHuEpo) 150 U/kg three times per week given sc (n = 12) or placebo (n = 12). The infants were fed a diet rich in protein (3.2 g/kg/day) and energy (130 kcal/kg/day) based on their own mother's milk fortified with bovine protein together with moderate iron supplementation (4 mg/kg/day).

Ehlers-Danlos syndrome and diverticula of the bladder.

Cases of two boys, 6 and 4 years old respectively, with Ehlers-Danlos syndrome (EDS) and large bladder diverticula, are reported. Diverticulectomies were performed, but large diverticula reappeared in both patients. A connection between the increased extensibility of the connective tissue in EDS and the development of bladder diverticula is suggested.

Rapid diagnosis of respiratory syncytial virus and influenza A virus infections by immunofluorescence: experience with a simplified procedure for the preparation of cell smears from nasopharyngeal secretions.

A simplified procedure for preparing direct smears of exfoliated cells from nasopharyngeal secretions is presented. The specimens were examined by the indirect immunofluorescence (IF) technique for the presence of respiratory syncytial (RS) virus and influenza A virus antigens. Specimens from 457 children hospitalised at twelve different hospital departments in Norway were examined during the winter season 1980-81.