Perinatal insults and neurodevelopmental disorders may impact Huntington's disease age of diagnosis

Introduction: The age of diagnosis of Huntington's disease (HD) varies among individuals with the same HTT CAG-repeat expansion size. We investigated whether early-life events, like perinatal insults or neurodevelopmental disorders, influence the diagnosis age. Methods: We used data from 13,856 participants from REGISTRY and Enroll-HD, two large international multicenter observational studies. Disease-free survival analyses of mutation carriers with an HTT CAG repeat expansion size above and including 36 were computed through Kaplan-Meier estimates of median time until an HD diagnosis. Comparisons between groups were computed using a Cox proportional hazard survival model adjusted for CAG-repeat expansion length. We also assessed whether the group effect depended on gender and the affected parent. Results: Insults in the perinatal period were associated with an earlier median age of diagnosis of 45.00 years (95%CI: 42.07–47.92) compared to 51.00 years (95%CI: 50.68–51.31) in the reference group, with a CAG-adjusted hazard ratio of 1.61 (95%CI: 1.26–2.06). Neurodevelopmental disorders were also associated with an earlier median age of diagnosis than the reference group of 47.00 years (95% CI: 43.38–50.62) with a CAG-adjusted hazard ratio of 1.42 (95%CI: 1.16–1.75). These associations did not change significantly with gender or affected parent. Conclusions: These results, derived from large observational datasets, show that perinatal insults and neurodevelopmental disorders are associated with earlier ages of diagnosis of magnitudes similar to the effects of known genetic modifiers of HD. Given their clear temporal separation, these early events may be causative of earlier HD onset, but further research is needed to prove causation

Rapid, progressive neuropathic arthropathy of the hip in a patient co-infected with human immunodeficiency virus, hepatitis C virus and tertiary syphilis: case report

BACKGROUND: Syphilis is a chronic infection that is classified into three stages. In its tertiary stage, syphilis spreads to the brain, heart and other organs; the lesions may involve the skin, mucous membranes and bones. Neuropathic arthropathy associated with tertiary syphilis has rarely been described in Europe and its association with HIV-HCV co-infection has not been reported so far.This article reports the case of a man with tertiary syphilis presenting with rapidly evolving neuropathic arthropathy of the hip and extensive bone destruction. CASE PRESENTATION: On initial presentation, the patient complained of progressively worsening left-sided coxalgia without localized or generalized inflammation. The patient reported to have no history of previous infections, trauma or cancer. Plain x-ray films of the left coxofemoral joint showed marked degeneration with necrosis of the proximal epiphysis of femur and morphological alterations of the acetabulum without protrusion. Primary coxarthrosis was diagnosed and hip arthroplasty was offered, but the patient declined treatment. Three months later, the patient presented a marked deterioration of his general condition. He disclosed that he was seropositive for HCV and HIV, as confirmed by serology. Syphilis serology testing was also positive. A Girdlestone's procedure was performed and samples were collected for routine cultures for bacteria and acid fast bacilli, all resulting negative.Although histological findings were inconclusive, confirmed positive serology for syphilis associated with progressive arthropathy was strongly suggestive of tertiary syphilis, probably exacerbated by HIV-HCV co-infection. The patient partially recovered the ability to walk. CONCLUSIONS: Due to the resurgence of syphilis, this disease should be considered as a possible cause of neuropathic arthropathy when other infectious causes have been ruled out, particularly in patients with HIV and/or HCV co-infection

Language and learning science in South Africa

South Africa is a multilingual country with 11 official languages. However, English dominates as the language of access and power and although the Language-in- Education Policy (1997) recommends school language policies that will promote additive bilingualism and the use of learners' home languages as languages of learning and teaching, there has been little implementation of these recommendations by schools. This is despite the fact that the majority of learners do not have the necessary English language proficiency to successfully engage with the curriculum and that teachers frequently are obliged to resort to using the learners' home language to mediate understanding. This research investigates the classroom language practices of six Grade 8 science teachers, teaching science through the medium of English where they and their learners share a common home language, Xhosa. Teachers' lessons were videotaped, transcribed and analysed for the opportunities they offered learners for language development and conceptual challenge. The purpose of the research is to better understand the teachers' perceptions and problems and to be able to draw on examples of good practice, to inform teacher training and to develop a coherent bilingual approach for teaching science through the medium of English as an additional language

Identity exploration and development in TESOL teacher education: A three-dimensional space narrative inquiry perspective

This study explores the professional identity development of five non-native English-speaking teacher learners from different backgrounds who were studying for a Master’s degree in Applied Linguistics/TESOL at an Australian university, following the three-dimensional space narrative inquiry framework (Clandinin & Connelly, 2000). The study aims to address how identity work could be utilized in teacher education to enrich teacher learners’ learning experience and prepare them for better developing their teacher selves. Participants attended two one-hour story-telling sessions aimed to elicit various aspects of their experience within the teacher education program such as native/non-native issues, transition in time and space and changes in expectations, and the learning environment. Their stories, structured and analyzed following the three-dimensional space narrative inquiry framework (Interaction, Continuity, and Situation) revealed their growth, satisfaction, and tensions resulting from becoming part of the community of practice in the Australian teacher education program. This research highlights the role of conducting identity exploration interventions within the context of teacher education in assisting TESOL teachers to construct and reconstruct their professional identity. It also suggests classroom activities designed based on the three-dimensional space narrative inquiry framework to make identity work a crucial part of teacher development within teacher education courses

Role of Sleep Disturbance in Chronic Hepatitis C Infection

Chronic infection with the hepatitis C virus (CHC) is associated with physical and mental symptoms including fatigue and depression that adversely affect quality of life. A related complaint, sleep disturbance, has received little attention in the literature, with the exception of sleep changes noted in cirrhosis and end-stage liver disease. We present an overview of studies indicating sleep problems in patients with CHC, with about 60% to 65% of individuals reporting such complaints. Evidence suggests that impairments in sleep quality exist independent of antiviral therapy with interferon-α and prior to advanced stages of liver disease. Further investigation of sleep disturbance in CHC patients with a mild stage of liver disease may provide important information on disease course as well as allow additional opportunities for patient support

Stres u radu sveučilišnih nastavnika: rodne i pozicijske razlike

The aim of this study was to investigate exposure to stress at work in university teachers and see if there were differences between men and women as well as between positions. The study was carried out online and included a representative sample of 1,168 teachers employed at universities in Croatia. This included all teaching positions: assistants (50 %), assistant professors (18 %), associate professors (17 %), and full professors (15 %). Fifty-seven percent of the sample were women. The participants answered a questionnaire of our own design that measured six groups of stressors: workload, material and technical conditions at work, relationships with colleagues at work, work with students, work organisation, and social recognition and status. Women reported greater stress than men. Assistant professors, associate professors, and full professors reported greater stress related to material and technical conditions of work and work organisation than assistants, who, in turn, found relationships with colleagues a greater stressor. Full professors, reported lower exposure to stress at work than associate professors, assistant professors, and assistants.Cilj rada bio je istražiti izloženost sveučilišnih nastavnika stresu u radu i ispitati postoje li razlike između muškaraca i žena te zaposlenika na različitim pozicijama u stupnju izloženosti i prirodi radnih stresora. Istraživanje je metodom on-line ankete provedeno na reprezentativnom uzorku od 1168 nastavnika zaposlenih na sveučilištima u Hrvatskoj. Obuhvaćene su bile sve znanstveno-nastavne pozicije: asistenti (51 %), docenti (19 %), izvanredni profesori (15 %) i redoviti profesori (15 %). 57 % uzorka činile su žene. Primijenjen je Upitnik izloženosti stresu u radu za sveučilišne nastavnike (ISR-SN) koji sadržava 37 čestica i mjeri šest latentnih dimenzija izvora stresa: radno opterećenje, materijalne/tehničke uvjete rada, odnose na poslu, studente, organizaciju rada i društvene uvjete rada. Žene u odnosu prema muškarcima u prosjeku izvještavaju o većoj prisutnosti izvora stresa u svom poslu. Docenti, izvanredni i redoviti profesori u prosjeku procjenjuju veću prisutnost stresora vezanih uz materijalne/tehničke uvjete rada i organizaciju rada u odnosu na asistente koji, pak, u većoj mjeri procjenjuju prisutnost stresora vezanih uz međuljudske odnose. Redoviti profesori u prosjeku izvještavaju o manjoj izloženosti stresorima u svom poslu od izvanrednih profesora, docenata i asistenata