Autosomal recessive hypercholesterolemia in three sisters with phenotypic homozygous familial hypercholesterolemia: diagnostic and therapeutic procedures.

Familial hypercholesterolemia is an autosomal-dominant inherited disorder caused by mutations in the low-density lipoprotein (LDL) receptor gene. The homozygous form is characterized by high-serum LDL cholesterol concentrations, xanthoma formation and premature atherosclerosis. Recently, another molecular defect that also results in severely elevated LDL cholesterol levels was identified: autosomal recessive hypercholesterolemia.

The specific disorder of arithmetic skills. Prevalence studies in a rural and an urban population sample and their clinico-neuropsychological validation.

There is an often noted lack of research in the field of disorders of arithmetic skills. The present study assessed the prevalence in both an urban and a rural population sample of German schoolchildren, using standardized academic achievement tests. Eight school classes of third graders in each area were examined (n = 181,182; respectively).

Neuropsychological differentiation of subnormal arithmetic abilities in children.

For the neuropsychological diagnosis of a Specific disorder of arithmetic skills the standard is defined worldwide by the diagnostic guidelines of the two major classification systems of psychiatric disorders, the ICD- 10 and the DSM-IV, both of which use the discrepancy criterion as the key feature of the diagnosis. It becomes clear that following such guidelines can only mean an extensive diagnostic assessment of patients with subnormal arithmetic abilities, including the social and previous medical history followed by the exclusion of a present disorder or disability, often necessitating laboratory, neuroimaging and neurophysiological tests. In the neuropsychological diagnosis of a Specific disorder of arithmetical skills we found a stepwise approach including previously obtained test results to be most practical and economical.

Mathematics and the brain: uncharted territory?

The prevalence of disorders of arithmetic skills in children of circa 6 % calls for intensive consideration of the subject by health care providers and researchers. The necessity of interdisciplinary cooperation is evident. The current classifications by the ICD-10 (Specific disorder of arithmetic skills) and DSM-IV (Mathematics disorder) represent different viewpoints.

Are there specific disabilities of number processing in adolescent patients with Anorexia nervosa? Evidence from clinical and neuropsychological data when compared to morphometric measures from magnetic resonance imaging.

The cerebral effect of the loss of body weight in Anorexia nervosa (A.n.)--the so-called 'pseudoatrophy'-- is well known and confirmed by several neuroimaging studies.

DALI LDL-apheresis: anticoagulation with r-hirudin in a patient with heparin-induced thrombocytopenia (HIT II).

A 50-year old male patient with familial hypercholesterolemia and hyperlipoproteinemia (a), who underwent low density lipoprotein-apheresis treatment developed heparin-induced thrombocytopenia type II (HIT II). Because heparin is contraindicated in patients with HIT, an alternative LDL-apheresis system and modified anticoagulation regimen was necessary. Treatment was changed to a new system called DALI (direct adsorption of lipids).

Age- and gender-related psychological characteristics of adolescent ballet dancers.

Ballet school students (n = 90) aged 11-17 years, and nondancing adolescents (n = 156) aged 13-17 completed the Eating Disorder Inventory (EDI). Significant differences between female dancers and controls were seen in five subscales, with higher scores for the dancers ('Drive for thinness', 'Bulimia', 'Interpersonal distrust', 'Ineffectiveness' and 'Perfectionism'). Their highest scores on most subscales were for the 16-year-olds.

Simultaneous genotyping of human platelet antigens (HPA) 1 through 6 using new sequence-specific primers for HPA-5.

Background: Polymerase chain reaction using sequence-specific primers is widely used for genotyping human platelet antigens (HPA). However, the results of HPA-5 genotyping are still problematic.

Study Design And Methods: New sequence-specific primers were designed for HPA-5 that, together with already published primers, allow simultaneous genotyping of HPA-1, -2, -3, -4, -5, and -6.

Demonstration of drug-dependent antibodies in two patients with neutrophenia and successful treatment with granulocyte-colony-stimulating factor.

Background: Many drugs have been reported as being capable of inducing immune neutropenia, but the causative drug-dependent antibodies were rarely demonstrated.

Study Design And Methods: This report describes the results of serologic testing and treatment in two children with immune neutropenia related to cefotaxime and metamizole, respectively. Serum samples were tested in the presence and the absence of the drugs using the granulocyte agglutination test (GAT), the granulocyte immunofluorescence test (GIFT), and the monoclonal antibody-specific immobilization of granulocyte antigens (MAIGA) assay.

Causes of severe decentration and subluxation of intraocular lenses.

Background: Severe decentration and subluxation of intraocular lenses (IOLs) may lead to double vision, glare and deterioration of vision to the point of functional aphakia. The purpose of the present study was to analyse causes for severe IOL dislocation.

Material And Methods: Between January 1989 and January 1996, 37 patients required IOL exchange because of decentrated or subluxated posterior chamber lenses.

Influence of gene-modified (IL-7, IL-4, and B7) tumor cell vaccines on tumor antigen presentation.

Tumor cells genetically modified to coexpress certain cytokines (such as IL-7 or IL-4) and B7.1 have increased immunogenicity. Since tumor Ags can be presented either directly by tumor cells or indirectly by host APC (cross-priming), we asked whether B7.