1,721,484 research outputs found
Should a syndrome be called by its correct name? The example of the preserved speech variant of Rett syndrome
No full textAlport syndrome: clinical, molecular and genetic aspects
No full textAlport Syndrome (AS) is a genetic disorder of basement membrane involving type IV collagen molecules. It has been recognized for many years that males and females with AS may show a different clinical course; the progression of the disease is more severe in males. Males present hematuria in early childhood, development of progressive sensorineural deafness during school years, and end-stage renal disease and ocular abnormalities in the late teens or early twenties. Females show a variable clinical course, and few are as severely affected as males. In formal genetic terms, this suggests that AS has a partially dominant X-linked inheritance, i.e. the mutation occurs in a gene located on the X-chromosome, while the normal allele on the other X in females partially corrects the defect. In some pedigrees, the disease is transmitted from male to male suggesting the existence of an autosomal dominant form the molecular basis of which remains unknown. In the rare autosomal recessive form females are as severely affected as males, whereas parents are healthy. Abnormalities of type IV collagen have been implicated as in the pathogenesis of AS. There are at least six type IV collagen chains present in basement membranes. The primary defect of the common X-linked AS affects the COL4A5 gene which has been mapped to Xq22, while alterations in COL4A3 or COL4A4, which map on chromosome 2, are responsible for the autosomal recessive form. This review will examine all the clinical features that characterize the Alport syndrome, recent findings on the molecular biology of type IV collagen chains, and the mutation of α5 (IV) chains which have been found so far
Crossing boundaries. Documentation of a teacher training course on design, robotics and coding
Full text linkThis article reports on the results of a teacher training course in which 41 teachers, working together with three university researchers, experienced a different way to engage in meaningful teaching and learning activities in design, coding and robotics. The course was run in an Italian school during the lock-down period of the Covid-19 pandemics. The training path had the objective to make the participants work differently, acting both as researchers and as teachers in training. The research reported in this article examined if and how an online teacher training course could act as a third space between school and academic cultures to achieve a negotiation of pedagogical practices.
Findings from the study, collected through pre-post questionnaires and open-ended discussions, highlight an improvement in knowledge related to coding and robotics. Moreover, during the course, teachers experienced a new approach to space-time dimensions, first-hand experimentation and a collaborative approach, leading to greater perceived confidence in their skills and competences
Thin glomerular basement membrane disease
No full textThe term thin glomerular basement membrane disease (TBMD) refers to a condition characterised by thinning of the GBM at electron microscopy examination and, clinically, by isolated hematuria, frequently occurring in other family members, with no extra-renal manifestations. Progression towards chronic renal failure (CRF), although rare, has been reported and blood pressure is high in 30-35% of cases during follow-up. TBMD is generally considered different from Alport syndrome since immunohistological investigation does not show abnormalities of type IV collagen alpha chains in the GBM, as frequently observed in Alport patients; moreover, in familial cases, the disease is transmitted as autosomal dominant trait, rarely observed in Alport syndrome. Genetic studies suggest that TBMD is a heterogeneous disease, but some cases may be related to mutations of COL4A3/COL4A4 genes, thus belonging to the spectrum of type IV collagen diseases. TBMD may arise with other glomerular diseases, most frequently IgA nephropathy, and it remains to be established whether these cases are a casual occurrence or whether a thinner than normal GBM predisposes to immune complex deposition
Teacher training on Educational Robotics. A systematic review
Full text linkThis study systematically reviews the literature concerning structured training experiences with Educational Robotics (ER) by in-service teachers (ISTs) and pre-service teachers (PSTs). The sixteen papers selected highlight the relevance of these courses in order to update professional identity and to support professional development (PD) beginning with undergraduate education. Through these training sessions, both ISTs and PSTs adapted and integrated their knowledge about robotics and the pedagogy behind it, coming to understand the benefits that new technologies can offer. Therefore, they built a positive attitude towards ER and enhanced their self-efficacy. This enables teachers to properly integrate ER in the classroom, using a more conscious and less obsolete methodology. Consequently, they become, together with their students, active co- designers of the educational process. Finally, improvements in teaching methods and contents will significantly impact on the learning process, especially in terms of motivation and inclusion
Adult-onset primary glaucoma and molecular genetics: A rewiev
No full textPURPOSE:
To evaluate recent molecular genetic studies focused on localizing and identifying the genes involved in adult-onset primary glaucoma, characterizing the gene products, and investigating the molecular mechanisms implicated in the pathophysiology of the disease.
METHODS:
Several studies have aimed at understanding gene expression and protein processing and attempting to correlate the mutations identified in the involved genes, particularly the TIGR/MYOC gene, with the overall spectrum of the disease, ranging from juvenile glaucoma to typical late-onset primary open-angle glaucoma. Genetic research remains essential until highly specific and sensitive tests have been developed (plausible disease-causing sequence variations, polymorphisms).
RESULTS:
The most effective method for detecting glaucoma clinically is the study of optic nerve and visual field damage, as well as intraocular pressure. In subjects at high risk, in members of families with a strong history of inherited glaucoma, and in families with a MYOC-positive test, the result may represent a marker to assess presymptomatic diagnosis and may be useful as a prognostic marker.
CONCLUSIONS:
OPTN seems to have a role confined to the pathogenesis of normotensive glaucoma with a few exceptions. Presently, the introduction of the expensive and time-consuming OPTN gene test in the current diagnosis of familial glaucoma is not justified
Inclusive designing through Educational Robotics. A training course for pre-service support teachers
No full textFree electron laser high gain devices
No full textHigh gain free electron laser devices, operating in the self amplified spontaneous emission regime, are under construction and was designed as the next generation of synchrotron radiation sources. In this paper we discuss the relevant physical aspects and derive simple relations for laser and higher order harmonic power, which can usefully be exploited in the preliminary design of these sources
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