Search results for "IgM"
showing 10 items of 1928 documents
Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations
2011
Abstract Background Usher Syndrome type II (USH2) is an autosomal recessive disorder, characterized by moderate to severe hearing impairment and retinitis pigmentosa (RP). Among the three genes implicated, mutations in the USH2A gene account for 74-90% of the USH2 cases. Methods To identify the genetic cause of the disease and determine the frequency of USH2A mutations in a cohort of 88 unrelated USH Spanish patients, we carried out a mutation screening of the 72 coding exons of this gene by direct sequencing. Moreover, we performed functional minigene studies for those changes that were predicted to affect splicing. Results As a result, a total of 144 DNA sequence variants were identified.…
Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma
2014
SASH1 (SAM and SH3 domain-containing protein 1) is a tumor suppressor gene involved in the tumorigenesis of a spectrum of solid cancers. Heterozygous SASH1 variants are known to cause autosomal-dominant dyschromatosis. Homozygosity mapping and whole-exome sequencing were performed in a consanguineous Moroccan family with two affected siblings presenting an unclassified phenotype associating an abnormal pigmentation pattern (hypo- and hyperpigmented macules of the trunk and face and areas of reticular hypo- and hyperpigmentation of the extremities), alopecia, palmoplantar keratoderma, ungueal dystrophy and recurrent spinocellular carcinoma. We identified a homozygous variant in SASH1 (c.1849…
Study of lip hydration with application of photoprotective lipstick : influence of skin phototype, size of lips, age, sex and smoking habits
2009
Objectives: To study lip hydration levels when applying a lipstick sunscreen for 3 months and to evaluate the influence of size of lips, age, sex, smoking and skin phototype. Study design: The study group was formed by 140 volunteer subjects, one group consisting of 70 patients applying a commercial lipstick sunscreen three times a day and the other group of 70 controls in which no product was applied. The age range was 20-86 years. The influence in lip hydration levels of age, sex, phototype, size of the lips and smoking habits was studied using a Corneometer 825® (Courage and Khazaka Electronic GmbH, Cologne, Germany). Results: An increase in lip hydration was found between the basal (53.…
A scale on beliefs about children's adjustment in same-sex families: reliability and validity.
2012
In this study, we developed a new instrument named Scale Beliefs about Children's Adjustment on Same-Sex Families (SBCASSF). The scale was developed to assess of the adults' beliefs about negative impacts on children who are raised by same-sex parents. An initial pool of 95 items was generated by the authors based on a review of the literature on homophobia and feedback from several focus groups. Research findings, based on a sample of 212 university students (mean age 22 years, SD = 8.28), supported the reliability and validity of the scale. The final versions of the SBCASSF included items reflecting the following two factors: individual opposition (α = .87) and normative opposition (α = .…
Prevalence and Correlates of Lifetime Suicide Attempts Among Transgender Persons in Argentina.
2015
This study examined the lifetime prevalence and correlates of attempted suicide among transgender persons in Argentina. Data were derived from a nation-wide, cross-sectional survey conducted in 2013. We assessed individual, social, and structural correlates of reporting a history of attempting suicide using logistic regression. Among 482 participants, the median age was 30, 91% identified as transwomen, and 32% resided in the Buenos Aires metropolitan area. A lifetime suicide attempt was reported by 159 (33%), among whom the median age at first attempt was 17. In a multivariate model, internalized stigma was positively associated with a history of suicidal behavior, while participants with …
Prevalence and correlates of depression during the COVID-19 pandemic and the major role of stigmatization in low- and middle-income countries: A mult…
2021
Highlights • There are significant differences on the prevalence of depression between the four LMICs. • Stigmatization related to COVID-19, but not exposure to COVID-19 was the strongest predictor of depression. • Resilience was a protective factor for DR Congo and Togo. • Younger age, gender (female), and exposure and stigmatization related to Covid-19, and resilience were associated with depression in the pooled data.
Aqueous Humor Levels of Vascular Endothelial Growth Factor in Retinitis Pigmentosa
2008
PURPOSE To determine the level of vascular endothelial growth factor A (VEGF-A) in aqueous humors of patients with retinitis pigmentosa (RP). METHODS A prospective, comparative control study. Aqueous humor was collected from 16 eyes of 16 patients with RP. The level of VEGF-A was determined with a commercially available enzyme-linked immunosorbent assay kit. The control group comprised 16 aqueous samples from 16 patients about to undergo cataract surgery and without any other ocular or systemic diseases. RESULTS The concentration of VEGF-A in aqueous humor was markedly lower in patients with RP than in control subjects (Mann-Whitney U test, P < 0.001). The level of VEGF-A was 94.9 +/- 99.8 …
Influence of different types of astigmatism on visual acuity
2016
[EN] Purpose To investigate the change in visual acuity (VA) produced by different types of astigmatism (on the basis of the refractive power and position of the principal meridians) on normal accommodating eyes. Methods The lens induced method was employed to simulate a set of 28 astigmatic blur conditions on different healthy emmetropic eyes. Additionally, 24 values of spherical defocus were also simulated on the same eyes for comparison. VA was measured in each case and the results, expressed in logMAR units, were represented against of the modulus of the dioptric power vector (blur strength). Results LogMAR VA varies in a linear fashion with increasing astigmatic blur, being the slope o…
COMT genotype predicts BOLD signal and noise characteristics in prefrontal circuits.
2006
Abstract Objective: Prefrontal dopamine (DA) is catabolized by the COMT (catechol- O -methyltransferase) enzyme. Literature suggests that the Val/Met single nucleotide polymorphism (SNP) in the COMT gene predicts executive cognition in humans with Val carriers showing poorer performance due to less available synaptic DA. Recent fMRI studies are thought to agree with these studies having demonstrated prefrontal hyperactivation during n -back and attention-requiring tasks. This was interpreted as “less efficient” processing due to impaired signal-to-noise ratio (SNR) of neuronal activity. However, electrophysiological studies of neuronal SNR in primates and humans imply that prefrontal cortex…
Methodological Aspects of the Application of the Naka-Rushton Equation to Clinical Electroretinogram
1993
The nonlinear relation between stimulus intensity and response amplitude of the electroretinogram (ERG) scotopic b wave can be described by a curve based on the Naka-Rushton (NR) equation. Up to now, the NR equation has been used to assess the features of the normal and pathological ERG, but the best approach for a correct evaluation of the parameters is still debatable. The parameters are thought to be related to the different conditions of retinal activities. The method is well known in experimental laboratories but is quite unusual at the clinical level. In the present paper the derivative analysis of the NR function is proposed as an easier approach to understand the variations of the N…