Search results for "Ink"
showing 10 items of 4279 documents
Oculopharyngeal muscular dystrophy in a northern German family linked to chromosome 14q, and presenting carnitine deficiency
1997
We report the evaluation of oculopharyngeal muscular dystrophy (OPMD) in a large northern German family, which can be traced back six generations and is unrelated to French-Canadian families. The symptoms in this family start at about 50 years of age and include dysphagia, bilateral ptosis, and in some cases a slowly progressive atrophy and weakness of other extraocular, facial or limb girdle muscles. The muscle biopsies showed the pathognomonic ultrastructural finding of characteristic intranuclear filaments. Linkage analysis confirmed that this family is also linked to chromosome 14q markers. Haplotype analysis revealed that a unique haplotype segregates with the disease which is differen…
A female with X‐linked Nephrogenic diabetes insipidus in a family with inherited central diabetes Insipidus: Case report and review of the literature
2020
There are two forms of diabetes insipidus, central (neurohypophyseal), and nephrogenic, caused by pathogenic variants in the AVP gene and the AVPR2 or AQP2 genes, respectively. We report on a four-generation family, seven individuals had central diabetes insipidus (CDI) and the female index patient seen from age 16 to 26 years had (mild) nephrogenic diabetes insipidus. In her father with CDI, a known pathogenic heterozygous AVP variant c.232_234del p.(Glu78del) was identified, confirming the diagnosis of CDI in him and the other affected family members. In the proband, molecular analysis disclosed a novel heterozygous AVPR2 gene variant, c.962A > T p.(Asn321Ile) and an extremely skewed X-in…
Effects of emotional picture viewing on voluntary eye blinks
2014
Eyeblinks, whether reflexive or voluntary, play an important role in protecting our vision. When viewing pictures, reflexive eyeblinks are known to be modulated by the emotional state induced thereby. More specifically, the hedonic valence (unpleasantness-pleasantness) induced by the picture has been shown to have a linear relationship with the amplitude of a startle blink elicited during picture viewing. This effect has been attributed to congruence between an ongoing state and task demands: an unpleasant emotional state is assumed to bias our attention towards potentially harmful stimuli, such as startle tones. However, recent research suggests that the valence-specific modulation may not…
Subclinical thought disorder in first-degree relatives of schizophrenic patients. Results from a matched-pairs study with the Thought Disorder Index
1995
To assess the frequency and quality of formal thought disorder in schizophrenic patients and their first-degree relatives, a consecutive series of 36 unmedicated patients, 20 siblings of these patients and 37 normal control subjects were examined with Holzman's Thought Disorder Index (TDI). As a proof of the internal validity of this tool, the patients demonstrated significantly more thought disorder than the controls as measured by the TDI total score and various subscores, which proved the internal validity of this tool in a German-speaking sample. In addition, in a pairwise comparison with controls who were individually matched by age and sex the patients' siblings had a significantly hi…
Monitoring free serum IgE in severe asthma patients treated with omalizumab
2012
SummaryBackgroundBenefit of treatment with the monoclonal anti-IgE-antibody omalizumab in severe IgE-dependent asthma requires a significant reduction of serum free IgE concentrations. It is unclear if monitoring free serum IgE is clinically meaningful once omalizumab treatment is initiated.MethodsFree IgE and omalizumab serum concentrations were quantified in 22 patients with severe asthma (68% female, 47 ± 11 yrs, mean (±SD) pre-bronchodilator FEV1 62 ± 13%, baseline mean (±SEM) free serum IgE 652 ± 136 ng/ml) treated with omalizumab for 4 months using a Recovery-ELISA.ResultsOmalizumab treatment reduced free serum IgE prior to the second omalizumab injection by 73%, after 16 weeks by 81%…
Heparin-based ELISA reduces background reactivity in virus-like particle-based papillomavirus serology.
2004
The interaction between human papillomavirus (HPV) particles and cell surface heparan sulfate requires intact conformation of the HPV particles. Type-specific HPV serology is currently based on virus-like particles (VLPs) with intact conformation. Presence of incorrectly folded VLPs in VLP preparations is recognized as an important cause of cross-reactivity in HPV serology. Heparin-coated microtitre plates were evaluated for capturing conformationally correct VLPs and improving the type specificity of HPV serology. Hybrid VLPs between HPV16 and HPV11, which had been found to have significant reactivity with children's sera and a batch of HPV18 VLPs that had failed the quality control becaus…
A dominant gene for developmental dyslexia on chromosome 3.
2001
Developmental dyslexia is a neurofunctional disorder characterised by an unexpected difficulty in learning to read and write despite adequate intelligence, motivation, and education. Previous studies have suggested mostly quantitative susceptibility loci for dyslexia on chromosomes 1, 2, 6, and 15, but no genes have been identified yet. We studied a large pedigree, ascertained from 140 families considered, segregating pronounced dyslexia in an autosomal dominant fashion. Affected status and the subtype of dyslexia were determined by neuropsychological tests. A genome scan with 320 markers showed a novel dominant locus linked to dyslexia in the pericentromeric region of chromosome 3 with a m…
Familial dyslexia: neurocognitive and genetic correlation in a large Finnish family.
2007
Neuropsychological findings of individuals with dyslexia (n=24) from a large, three-generation Finnish family are presented. We have previously performed whole genome linkage scanning in this family and found that dyslexia in this kindred segregates with a single locus in the pericentromeric area of chromosome 3. Those included in the analyses were carefully evaluated for general cognitive ability, reading and spelling skills, and reading-related neurocognitive skills. The neurocognitive type of dyslexia segregating in this family consisted of deficits in phonological awareness, verbal short-term memory, and rapid naming. Severe dyslexia also seemed to be connected with a general language d…
Ankylosing spondylitis in monozygotic twins: studies on immunological parameters
1999
OBJECTIVE—To examine immunological parameters that might explain disease discordance in monozygotic twin pairs with ankylosing spondylitis (AS). METHODS—11 monozygotic twin pairs (nine with AS, two with undifferentiated spondyloarthropathy) were investigated. The peripheral T cell receptor Vβ repertoire was investigated using FACS analysis and 14 different Vβ antibodies. In addition serum samples were tested for antibodies to Klebsiella pneumoniae, Streptococcus pyogenes, Candida albicans, Proteus mirabilis, and Escherichia coli. Peripheral blood lymphocyte reactivity against a number of bacteria was investigated by interferon γ ELISPOT assays. RESULTS—Twins suffering from AS showed cellula…
The pterygoid reflex in man and its clinical application
1992
A technique for eliciting and recording the stretch reflex (R) of the medial pterygoid muscle (Pter) is described. The latency was 6.9 ± 0.43 ms in 23 healthy volunteers (mean age 23.7 years) showing a side-to-side difference of 0.29 ± 0.21 ms. The PterR latencies were little shorter and side-to-side difference little greater than of the masseter reflex. Observations in 5 selected patients with small brainstem lesions suggest that the neurons of the PterR afferents form a cluster within the caudal portion of the trigeminal mesencephalic nucleus. Testing the masseter and pterygoid reflexes provides a more precise localization of small ponto-mesencephalic lesions. © 1992 John Wiley & Sons, In…