Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients

Paired box 1 (PAX1) deficiency has been reported in a small number of patients diagnosed with otofaciocervical syndrome type 2 (OFCS2). We described six new patients who demonstrated variable clinical penetrance. Reduced transcriptional activity of pathogenic variants confirmed partial or complete PAX1 deficiency. Thymic aplasia and hypoplasia were associated with impaired T cell immunity. Corrective treatment was required in 4/6 patients. Hematopoietic stem cell transplantation resulted in poor immune reconstitution with absent naïve T cells, contrasting with the superior recovery of T cell immunity after thymus transplantation. Normal ex vivo differentiation of PAX1-deficient CD34+ cells into mature T cells demonstrated the absence of a hematopoietic cell-intrinsic defect. New overlapping features with DiGeorge syndrome included primary hypoparathyroidism (n = 5) and congenital heart defects (n = 2), in line with PAX1 expression during early embryogenesis. Our results highlight new features of PAX1 deficiency, which are relevant to improving early diagnosis and identifying patients requiring corrective treatment

Single-feature polymorphism discovery by computing probe affinity shape powers

<p>Abstract</p> <p>Background</p> <p>Single-feature polymorphism (SFP) discovery is a rapid and cost-effective approach to identify DNA polymorphisms. However, high false positive rates and/or low sensitivity are prevalent in previously described SFP detection methods. This work presents a new computing method for SFP discovery.</p> <p>Results</p> <p>The probe affinity differences and affinity shape powers formed by the neighboring probes in each probe set were computed into SFP weight scores. This method was validated by known sequence information and was comprehensively compared with previously-reported methods using the same datasets. A web application using this algorithm has been implemented for SFP detection. Using this method, we identified 364 SFPs in a barley near-isogenic line pair carrying either the wild type or the mutant <it>uniculm2 </it>(<it>cul2</it>) allele. Most of the SFP polymorphisms were identified on chromosome 6H in the vicinity of the <it>Cul2 </it>locus.</p> <p>Conclusion</p> <p>This SFP discovery method exhibits better performance in specificity and sensitivity over previously-reported methods. It can be used for other organisms for which GeneChip technology is available. The web-based tool will facilitate SFP discovery. The 364 SFPs discovered in a barley near-isogenic line pair provide a set of genetic markers for fine mapping and future map-based cloning of the <it>Cul2 </it>locus.</p

Treatment Emergent Central Sleep Apnea: Should We Repeat Titration?

Most patients with Obstructive sleep apnea syndrome are treated with continuous positive airway pressure (CPAP). However, in some patients central apnea arises during CPAP titration. This clinical condition is defined as treatment-emergent central sleep apnea (CSA). Here, we would like to present a case who was diagnosed with treatment-emergent CSA during the first titration study, however CSA was lost in the second titration. Before the diagnosis of treatment-emergent CSA, factors of titration should be reviewed and if it is not found satisfactory, procedure should be repeated. In most cases CPAP therapy eliminates CSA. However, in some cases bilevel positive airway pressure-spontaneous/timed or adaptive servo ventilator is needed. Repeated titration could be useful tool to predict whether the patient needs CPAP or advanced therapies

Frequency And Aim Of Web 2.0 Tools Usage By Secondary School Students And Their Awareness Level Of These Tools

Web 2.0 tools, such as wikis, blogs, social networks, photograph and video sharing sites, instant messaging, and podcasts provide easy applications to users without having knowledge on computer programming or computer systems. Moreover, Web 2.0 tools provide young users virtual environments, in which they have opportunities to become socially active, interact with their peers, and share, cooperate as well as create their own projects. This study focused on students' perceptions about Web 2.0 tools, and dealt with the frequency and aim of their usage. The working group consisted of 111 secondary school students from Ankara, Adana and Erzurum provinces of Turkey. The data were collected through a survey questionnaire. In data analysis, frequency distributions, percentages, mean and standard deviation scores were calculated. According to the results, social networks, instant messaging services and video sharing sites were most frequently used tools by students. Although most of the students were aware of Web 2.0 tools, only a small number of students used wikis and podcasts. Students who were using Internet in their daily life used it mostly for entertainment purposes. However, as frequency of the students who used Internet decreased their objectives for using it changed. In conclusion, when the frequency of students' Internet usage changed, Internet usage aim changed according to needs of students. The students preferred to use search engines and Facebook more than other tools. Besides, gender was an important factor in the usage of the Internet.Wo

The prevalence and risk factors of dementia in the elderly population in a low socio-economic region of Izmir, Turkey

The aim of this Study is to determine the prevalence of and risk factors of dementia in the elderly with a low socio-economical status. The study is a cross-sectional and analytic study. Two hundred and four persons aged 65 years and above were selected by using the cluster sampling method. The presence of dementia was determined by Standardized Mini Mental State Examination (SMMSE). Twenty-three and 18 cut-off points were accepted as the existence of dementia in educated and uneducated older individuals, respectively. Chi-square test. Student's t-test. and logistic regression analysis were used for data analysis. The mean age of older Subjects was 70.8 +/- 6.45 (S.D.): 71.5 +/- 5.9 in males and 70.3 +/- 6.8 in females (p = 0.19). Ninety-one percent of older people had never attended school, 54.6% were living below the poverty level. and 97% of the residences were in squatter settlements. Dementia was determined in 46 older subjects (22.9%). Dementia was found significantly higher in females, in elderly subjects aged 80 years and above. in older subjects who were in a bad or very bad self-health status and in those who had it chronic disease. did not have any occupation, had a lower monthly income, and with a depressive score eight and above (p < 0.05). In our study, the prevalence of dementia in older people was higher. in agreement with many reported studies. We assumed that this was due to the fact that the ratio of the uneducated, poor, and advanced aged subjects in this study was considerably higher. The different prevalence rates in studies demonstrate that the adoption of SMMSE for the study population, the validity-reliability analyses of tests and the standardization of diagnostic criteria are necessary. (c) 2005 Elsevier Ireland Ltd. All rights reserved