Search results for "GENETICS"
showing 10 items of 12494 documents
Association analysis between gene variants of the tyrosine hydroxylase and the serotonin transporter in borderline personality disorder.
2010
For patients with borderline personality disorder (BPD), we previously reported an independent effect of the catechol-o-methyl-transferase (COMT) low-activity (Met(158)) allele and an interaction with the low-expression allele of the deletion/insertion (short/long or S/L, resp.) polymorphism in the serotonin transporter-linked promoter region (5-HTTLPR). The purpose of the present study was to extend these findings to the tyrosine hydroxylase (TH) Val(81)Met single nucleotide polymorphism (SNP), the 5-HTTLPR S/L polymorphism incorporating the recently described functional A/G SNP within the long allele of the 5-HTTLPR (rs25531) as well as the variable number of tandem repeat (VNTR) polymorp…
Die Bildung von Leber- und Muskelglykogen aus Xylit, Sorbit und Glucose bei gesunden und alloxandiabetischen Ratten
1963
Xylit, Sorbit und Glucose konnen bei Infusion an hungernde Ratten in gleichem Umfang zur Synthese von Leberglykogen verwendet werden. Dies gilt sowohl fur gesunde als auch fur alloxandiabetische Ratten. Auch bei alloxandiabetischen Ratten wird bei dieser Versuchsanordnung Glucose unvermindert zur Synthese von Leberglykogen verwendet. Weder bei gesunden noch alloxandiabetischen Ratten findet man eine signifikante Bildung von Muskelglykogen aus Sorbit oder Xylit. Aus Glucose kann Muskelglykogen nur bei gesunden Tieren, nicht aber bei diabetischen gebildet werden.
Multidirectional chromosome painting reveals a remarkable syntenic homology between the greater galagos and the slow loris.
2006
We report on the first reciprocal chromosome painting of lorisoids and humans. The chromosome painting showed a remarkable syntenic homology between Otolemur and Nycticebus. Eight derived syntenic associations of human segments are common to both Otolemur and Nycticebus, indicative of a considerable period of common evolution between the greater galago and the slow loris. Five additional Robertsonian translocations form the slow loris karyotype, while the remaining chromosomes are syntenically equivalent, although some differ in terms of centromere position and heterochromatin additions. Strikingly, the breakpoints of the human chromosomes found fragmented in these two species are apparentl…
Influence of spurious dilution and hyperglycemia on erythrocytes and platelets evaluated with two different hematological analyzers
2015
The integrity of whole blood samples may be compromised by suboptimal collection practices. Therefore, we investigated the influence of spurious hyperglycemia on erythrocytes and platelets, assessed with two hematological analyzers using optical or impedance technique. Three K2EDTA blood specimens were collected from 12 healthy subjects, pooled and divided into four aliquots. The first aliquot was left untreated (glucose concentration 4.4 mmol/L), whereas scalar amounts of standard 5% glucose solution were added to the remaining, generating glucose contamination of 5% (19.2 mmol/L), 10% (33 mmol/L) and 20% (62 mmol/L). Hematological testing was then performed using Siemens Advia 2120 and Sy…
SP0086 Promotion Exercise: The Evidence
2013
Rheumatoid arthritis (RA) is a chronic, systemic, autoimmune disease, and the most common form of chronic joint inflammation. Inflammation leads to elevation of proinflammatory cytokines such as tumour necrosis factor alpha (TNF-α), interleukin-6 (IL-6), and C-reactive protein (CRP). RA also results in downregulation of anabolic factors for muscle, for example, muscle levels of insulin-like growth factor I (IGF-1) [1]. The circulating levels of cytokines reflect may also play a significant role in rheumatoid cachexia, which is defined as a loss of body cell mass which predominates in skeletal muscle [2]. Despite the significant improvement of pharmaceutical interventions, therapeutic exerci…
LARP7 variants and further delineation of the Alazami syndrome phenotypic spectrum among primordial dwarfisms: 2 sisters.
2019
Abstract Alazami syndrome (AS) (MIM# 615071 ) is an autosomal recessive microcephalic primordial dwarfism (PD) with recognizable facial features and severe intellectual disability due to depletion or loss of function variants in LARP7. To date, 15 patients with AS have been reported. Here we describe two consanguineous Algerian sisters with Alazami PD due to LARP7 homozygous pathogenic variants detected by whole exome sequencing. By comparing these two additional cases with those previously reported, we strengthen the key features of AS: severe growth restriction, severe intellectual disability and some distinguishing facial features such as broad nose, malar hypoplasia, wide mouth, full li…
Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A…
2006
Laboratory diagnosis of lysosomal storage disorders, especially sphingomyelinase deficiency (Niemann–Pick disease type A/B) and Niemann–Pick disease type C (NPC) can be challenging. We therefore aimed to analyse the feasibility of first-step screening with specific chitotriosidase cut-off values in children ≤ 10 years of age with visceral organomegaly (hepatomegaly, splenomegaly, or hepatosplenomegaly) in whom a storage disorder was suspected. We conducted a retrospective, cross-sectional, referral, single-centre study to assess diagnostic test properties in 106 individuals. Median chitotriosidase activity was 12 655 nmol/h per ml (interquartile range 4693–20982) in Gaucher disease (GD); 78…
Systematic search for neutropenia should be part of the first screening in patients with poikiloderma.
2011
Poikiloderma occurs in a number of hereditary syndromes, the best known of which is Rothmund-Thomson syndrome (RTS). Differential diagnoses include Dyskeratosis Congenita (DC) with high genetic heterogeneity and Clericuzio-type Poikiloderma with Neutropenia (CPN) due to mutations in the C16orf57 gene. Mutations in the RECQL4 gene are only observed in two thirds of RTS patients. In this study, 10 patients referred for syndromic poikiloderma and negative for RECQL4 sequencing analysis were investigated for C16orf57 mutations. Two C16orf57 heterozygous nonsense mutations (p.W81X and p.Y89X) were identified in a 5-year-old female child presenting with generalized poikiloderma, dental dysplasia,…
Identification of a novel mutation of MTP gene in a patient with abetalipoproteinemia.
2011
Abetalipoproteinemia (ABL), or Bassen-Kornzweig syndrome, is a rare autosomal recessive disorder of lipoprotein metabolism, characterized by fat malabsorption, hypocholesterolemia retinitis pigmentosa, progressive neuropathy and acanthocytosis from early infancy. We describe the clinical and molecular characterization of a 6-month-old infant born of consanguineous, apparently healthy parents from Iran. The patient was hospitalized because of failure to thrive, greasy stool and vomiting. The patient's serum lipid profile, the clinical phenotype and the duodenal histology suggested the clinical diagnosis of ABL. The MTP gene analysis by direct sequencing revealed a novel homozygous mutation (…
HLA antigens and immunoresponsiveness to insulin in insulin-dependent diabetes mellitus.
2008
HLA-A and B antigens were determined in 112 patient with insulin-dependent juvenile onset diabetes mellitus, who could be subdivided into “non” and “high responders” to insulin. The data revealed a trend of an association of these diabetes subgroups with only one of the diabetes-associated antigens HLA-B8 and HLA-BW15 and indicated the existence of at least two different genetic constellations for susceptibility to juvenile diabetes mellitus. One form with a strong immune-response to insulin seemed to be associated with HLA-BW 15 and the other form without humoral immunoreactivity to insulin seemed to be associated with the presence of HLA-B8 and the absence of HLA-B7.