Assessing the Outcome of Information and Communication Technology in Educational Development in Ghana

The value of teaching and education is of vital concern, principally at the point of educational development. This is because Information and Communication Technology (ICT) can boost the quality of education in various ways such as enhancing teacher training, facilitating the acquisition of basic skills and increasing learner motivation and engagement. This therefore makes it crucial for necessary stake holders associated with the implementation of ICT in education, to know the outcome of ICT in educational development. This paper assesses the outcome of ICT in educational development in senior high school education in the Akuapem North Municipality of the Eastern region of Ghana. The researchers employed questionnaire, and interview on students and teachers. The study concludes that there is improvement in performance when ICT is used in learning in almost all the high schools, most students can use ICT to store and retrieve information; most students can also use the computer to do assignments given to them by their teachers and majority (80.1%) of the respondents have ICT related facilities in their schools, which include internet connectivity, well-equipped ICT Laboratory, computers and television sets. Keywords: ICT, Educational development, Akuapem North Municipalit

CHCHD10 mutations and motor neuron disease: the distribution in Finnish patients.

Peer reviewe

Kindergarten pre-reading skills predict Grade 9 reading comprehension (PISA Reading) but fail to explain gender difference

One of the aims for compulsory education is to diminish or alleviate differences in children's skills existing prior to school entry. However, a growing gender gap in reading development has increasingly been documented. Regrettably, there is scant evidence on whether differences between genders (favouring girls) have their roots in pre-reading skills or whether determining mechanisms are related to factors to do with schooling. We examined the extent to which pre-reading skills assessed in Kindergarten (age 6) predict reading comprehension in Grade 9 (age 15) and, whether the gender difference in reading comprehension can be explained by gender differences in the Kindergarten pre-reading skills. A sample of 1010 Finnish children were assessed on letter knowledge, phonological awareness, rapid naming, vocabulary, and listening comprehension in Kindergarten and on reading comprehension using PISA Reading tasks in Grade 9. Path models showed that gender as well as Kindergarten pre-reading skills except for phonological awareness were significant predictors of reading comprehension in Grade 9 accounting for 28% of the variance. There were gender differences in most of the measures, but the prediction model estimates were similar for boys and girls except that for boys, letter knowledge was a somewhat stronger predictor of reading comprehension than for girls. The gender effect on reading comprehension was only partially mediated via pre-reading skills. The findings suggest that Kindergarten pre-reading skills are powerful predictors of reading comprehension in Grade 9, but the gender difference found in PISA Reading in Finland does not appear to be pronounced in Kindergarten but rather emerges during the school years

Serum Creatine, Not Neurofilament Light, Is Elevated in CHCHD10-Linked Spinal Muscular Atrophy

ObjectiveTo characterize serum biomarkers in mitochondrial CHCHD10-linked spinal muscular atrophy Jokela (SMAJ) type for disease monitoring and for the understanding of pathogenic mechanisms. MethodsWe collected serum samples from a cohort of 49 patients with SMAJ, all carriers of the heterozygous c.197G>T p.G66V variant in CHCHD10. As controls, we used age- and sex-matched serum samples obtained from Helsinki Biobank. Creatine kinase and creatinine were measured by standard methods. Neurofilament light (NfL) and glial fibrillary acidic protein (GFAP) were measured with single molecule array (Simoa), fibroblast growth factor 21 (FGF-21), and growth differentiation factor 15 (GDF-15) with an enzyme-linked immunosorbent assay. For non-targeted plasma metabolite profiling, samples were analyzed with liquid chromatography high-resolution mass spectrometry. Disease severity was evaluated retrospectively by calculating a symptom-based score. ResultsAxon degeneration marker, NfL, was unexpectedly not altered in the serum of patients with SMAJ, whereas astrocytic activation marker, GFAP, was slightly decreased. Creatine kinase was elevated in most patients, particularly men. We identified six metabolites that were significantly altered in serum of patients with SMAJ in comparison to controls: increased creatine and pyruvate, and decreased creatinine, taurine, N-acetyl-carnosine, and succinate. Creatine correlated with disease severity. Altered pyruvate and succinate indicated a metabolic response to mitochondrial dysfunction; however, lactate or mitochondrial myopathy markers FGF-21 or GDF-15 was not changed. ConclusionsBiomarkers of muscle mass and damage are altered in SMAJ serum, indicating a role for skeletal muscle in disease pathogenesis in addition to neurogenic damage. Despite the minimal mitochondrial pathology in skeletal muscle, signs of a metabolic shift can be detected.Peer reviewe

Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy

Peer reviewe

Serum Creatine, Not Neurofilament Light, Is Elevated in CHCHD10-Linked Spinal Muscular Atrophy

Objective: To characterize serum biomarkers in mitochondrial CHCHD10-linked spinal muscular atrophy Jokela (SMAJ) type for disease monitoring and for the understanding of pathogenic mechanisms.Methods: We collected serum samples from a cohort of 49 patients with SMAJ, all carriers of the heterozygous c.197G>T p.G66V variant in CHCHD10. As controls, we used age- and sex-matched serum samples obtained from Helsinki Biobank. Creatine kinase and creatinine were measured by standard methods. Neurofilament light (NfL) and glial fibrillary acidic protein (GFAP) were measured with single molecule array (Simoa), fibroblast growth factor 21 (FGF-21), and growth differentiation factor 15 (GDF-15) with an enzyme-linked immunosorbent assay. For non-targeted plasma metabolite profiling, samples were analyzed with liquid chromatography high-resolution mass spectrometry. Disease severity was evaluated retrospectively by calculating a symptom-based score.Results: Axon degeneration marker, NfL, was unexpectedly not altered in the serum of patients with SMAJ, whereas astrocytic activation marker, GFAP, was slightly decreased. Creatine kinase was elevated in most patients, particularly men. We identified six metabolites that were significantly altered in serum of patients with SMAJ in comparison to controls: increased creatine and pyruvate, and decreased creatinine, taurine, N-acetyl-carnosine, and succinate. Creatine correlated with disease severity. Altered pyruvate and succinate indicated a metabolic response to mitochondrial dysfunction; however, lactate or mitochondrial myopathy markers FGF-21 or GDF-15 was not changed.Conclusions: Biomarkers of muscle mass and damage are altered in SMAJ serum, indicating a role for skeletal muscle in disease pathogenesis in addition to neurogenic damage. Despite the minimal mitochondrial pathology in skeletal muscle, signs of a metabolic shift can be detected.</p

Toimintamalleja sosiaali- ja terveysalan tutkimuksen, kehittämisen ja innovaatiotoiminnan edistämiseen

Tämä selvitys keskittyy tutkimus-, kehittämis- ja innovaatiotoiminnan (TKI-toiminnan) näkökulmaan osana SOTE-järjestelmän rakenteellista kehittämistä. TKI-toiminnan rooli on erityisesti pidemmällä aikavälillä uusien, entistä vaikuttavampien teknologioiden, ratkaisujen ja hoitokäytäntöjen kehittämisessä sekä kustannusten kasvun hillinnässä. Raportissa huomion kohteena ovat erityisesti SOTE-alan TKI-toiminnan rakenteen kuvaaminen sekä hallintomallista riippumattomat hyvät käytännöt ja toimintamallit SOTE-alan TKI-toiminnan organisoinnissa. Selvityksen keskeinen johtopäätös on tunnistettu tarve alueiden strategiselle suunnittelulle ja koordinoinnille; TKI-toiminnan kokonaiskuvan kirkastamiseen on panostettava sekä alueilla että kansallisesti poikkihallinnollisessa yhteistyössä. Tulevaisuudessa, kun alueiden suunnittelu- ja järjestämisvapaus kasvaa, on tärkeää, että kansallisten toimijoiden ja alueiden välisessä vuoropuhelussa muodostetaan yhteisymmärrys SOTE:n päämäärätavoitteista. Nämä tavoitteet tulee purkaa mitattaviksi ja muodostaa niiden ympärille laatu- ja tiedolla johtamisen järjestelmä. Tämän ohella tarvitaan kannusteita, ohjausta ja rajapintojen standardointia yhdessä toimimisen mahdollistamiseksi. Mikäli SOTE-alan järjestämis- ja tuotantovastuut hajautuvat jatkossakin myös SOTE:n päämäärien toteutumista tukevaa poikkihallinnollista yhteistyötä ja kansallista resurssiohjausta on syytä vahvistaa

NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathy

Nemaline myopathy (NM) is one of the most common non-dystrophic genetic muscle disorders. NM is often associated with mutations in the NEB gene. Even though the exact NEB-NM pathophysiological mechanisms remain unclear, histological analyses of patients' muscle biopsies often reveal unexplained accumulation of glycogen and abnormally shaped mitochondria. Hence, the aim of the present study was to define the exact molecular and cellular cascade of events that would lead to potential changes in muscle energetics in NEB-NM. For that, we applied a wide range of biophysical and cell biology assays on skeletal muscle fibres from NM patients as well as untargeted proteomics analyses on isolated myofibres from a muscle-specific nebulin-deficient mouse model. Unexpectedly, we found that the myosin stabilizing conformational state, known as super-relaxed state, was significantly impaired, inducing an increase in the energy (ATP) consumption of resting muscle fibres from NEB-NM patients when compared with controls or with other forms of genetic/rare, acquired NM. This destabilization of the myosin super-relaxed state had dynamic consequences as we observed a remodeling of the metabolic proteome in muscle fibres from nebulin-deficient mice. Altogether, our findings explain some of the hitherto obscure hallmarks of NM, including the appearance of abnormal energy proteins and suggest potential beneficial effects of drugs targeting myosin activity/conformations for NEB-NM.Peer reviewe

Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy

Objective: To describe adult-onset limb-girdle-type muscular dystrophy caused by biallelic variants in the PYROXD1 gene, which has been recently linked to early-onset congenital myofibrillar myopathy.Methods: Whole exome sequencing was performed for adult-onset neuromuscular disease patients with no molecular diagnosis. Patients with PYROXD1 variants underwent clinical characterization, lower limb muscle MRI, muscle biopsy and spirometry. A yeast complementation assay was used to determine the biochemical consequences of the genetic variants.Results: We identified four patients with biallelic PYROXD1 variants. Three patients, who had symptom onset in their 20s or 30s, were homozygous for the previously described p.Asn155Ser. The fourth patient, with symptom onset at age 49, was compound heterozygous for p.Asn155Ser variant and previously unknown p.Tyr354Cys. All patients presented with a LGMD-type phenotype of symmetric muscle weakness and wasting. Symptoms started in proximal muscles of the lower limbs, and progressed slowly to involve also upper limbs in a proximal-predominant fashion. All patients remained ambulant past the age of 60. They had restrictive lung disease but no cardiac impairment. Muscle MRI showed strong involvement of anterolateral thigh muscles. Muscle biopsy displayed chronic myopathic changes. Yeast complementation assay demonstrated the p.Tyr354Cys mutation to impair PYROXD1 oxidoreductase ability.Conclusion: PYROXD1 variants can cause an adult-onset slowly progressive LGMD-type phenotype.</p

Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis

Rhabdomyolysis is the acute breakdown of skeletal myofibres in response to an initiating factor, most commonly toxins and over exertion. A variety of genetic disorders predispose to rhabdomyolysis through different pathogenic mechanisms, particularly in patients with recurrent episodes. However, most cases remain without a genetic diagnosis. Here we present six patients who presented with severe and recurrent rhabdomyolysis, usually with onset in the teenage years; other features included a history of myalgia and muscle cramps. We identified 10 bi-allelic loss-of-function variants in the gene encoding obscurin (OBSCN) predisposing individuals to recurrent rhabdomyolysis. We show reduced expression of OBSCN and loss of obscurin protein in patient muscle. Obscurin is proposed to be involved in sarcoplasmic reticulum function and Ca2+ handling. Patient cultured myoblasts appear more susceptible to starvation as evidenced by a greater decreased in sarcoplasmic reticulum Ca2+ content compared to control myoblasts. This likely reflects a lower efficiency when pumping Ca2+ back into the sarcoplasmic reticulum and/or a decrease in Ca2+ sarcoplasmic reticulum storage ability when metabolism is diminished. OSBCN variants have previously been associated with cardiomyopathies. None of the patients presented with a cardiomyopathy and cardiac examinations were normal in all cases in which cardiac function was assessed. There was also no history of cardiomyopathy in first degree relatives, in particular in any of the carrier parents. This cohort is relatively young, thus follow-up studies and the identification of additional cases with bi-allelic null OBSCN variants will further delineate OBSCN-related disease and the clinical course of disease. Cabrera-Serrano et al. show that biallelic loss-of-function variants in the gene encoding obscurin (OBSCN) predispose individuals to recurrent and severe episodes of rhabdomyolysis, typically with onset in the teenage years.Peer reviewe