An Investigation of Students' Perceptions of Academic Reading Difficulties and Their Association with English Language Proficiency.

This mixed method study was conducted in two phases to investigate ESL students’ academic reading. The aim of the first phase was to understand the academic reading practices of ESL students pursuing their postgraduate studies at one university in the UK. The first phase also provided insights into students’ perceptions of the academic reading difficulties they encountered along with the strategies they adopted to overcome these difficulties. Changes over time in students’ perceptions of academic reading practices in addition to difficulties and the ways in which they implemented strategies to overcome them were also traced. In the second phase, the focus shifted to seek generalisation of the first phase findings with regard to academic reading. Furthermore, the second phase investigated the association between English language proficiency and students’ perceptions of academic reading difficulties. The study adopted an exploratory sequential mixed method design. In the first phase, two separate rounds of think aloud protocol and semi-structured interviews were used to collect data from nine ESL students pursuing their postgraduate studies. The results of this phase were used to develop a scale of the perceived level of academic reading difficulties to web-survey a wider ESL community at the university. In the second phase, 77 ESL postgraduate students in their first year of academic programmes responded to the survey. A key finding that emerged from the first phase is that ESL postgraduate students encountered a wide array of difficulties that did not stem solely from their lack of English language proficiency; rather, some were the result of a lack of other skills including cognitive skills, key content knowledge and academic skills. In addition, ESL students showed changes over time not only with regard to academic reading practices, but also in terms of certain difficulties being alleviated. The results of the second phase supported the findings of the first phase as they suggested that IELTS is a moderate predictor of students’ perceptions of academic reading difficulties. In addition to students’ linguistic ability, ESL students need to be equipped with skills that enable them to operate successfully at the university. The main lesson learnt is that the readiness of ESL students to pursue their studies in a UK university was questionable, but over time they demonstrated that they had learnt through different forms of interactions in academia. Sociocultural theory is used to explain the changes over time that students reported in their academic reading practices and difficulties. This study viewed reading as a social practice as students improved through their participation in academic activities. In addition, a model was suggested to conceptualize ESL students’ university readiness. Recommendations for improving students’ readiness and for further research were suggested

Building consensus for the development of child eye care services in South Darfur State of Sudan using the Delphi technique

Background: Global estimates suggest there are almost 19 million visually impaired children worldwide, most of whom reside in poor countries, with the major cause being treatable. Aim: To determine the barriers to accessing childhood eye care services and to develop an eye care plan for children in South Darfur State, Sudan. Setting: The study took place in South Darfur State, Sudan. Methods: The classical Delphi technique was used to build consensus on a list of statements, which were generated based on the themes established by the experts, as well as on an extensive literature review. Results: Response rates ranged from 90% in the first round (n = 18), 100% in the second round (n = 18) to 89% in the third and final round (n = 16). The total number of statements recommended by the Delphi panellists for development of the paediatric eye care plan, was 60 based on a consensus level of 80% agreement or more. The expert’s consensus on the following key elements for promotion and improvement of child eye care: The main barriers to accessing child eye care were high poverty rate, unavailability of child eye services and a lack of community awareness. The challenges facing visually impaired children were an absence of paediatric ophthalmologists, low vision and orthoptic services. Conclusion: The main barriers to accessing child eye care services were financial, clinical access and lack of knowledge. There should be greater collaboration between the Ministries of Health, Education and non-governmental organisations (NGOs), to work together in addressing these barriers

Increased Immune-Regulatory Receptor Expression on Effector T Cells as Early Indicators of Relapse Following Autologous Stem Cell Transplantation for Multiple Myeloma

The benefit of autologous stem cell transplantation (ASCT) in newly diagnosed myeloma patients, apart from supporting high dose chemotherapy, may include effects on T cell function in the bone marrow (BM). We report our exploratory findings on marrow infiltrating T cells early post-ASCT (day+100), examining phenotype and T cell receptor (TCR) repertoire, seeking correlations with timing of relapse. Compared to healthy donors (HD), we observed an increase in regulatory T cells (CD4+FoxP3+, Tregs) with reduction in CD4 T cells, leading to lower CD4:8 ratios. Compared to paired pre-treatment marrow, both CD4 and CD8 compartments showed a reduction in naïve, and increase in effector memory subsets, suggestive of a more differentiated phenotype. This was supported by increased levels of several immune-regulatory and activation proteins (ICOS, PD-1, LAG-3, CTLA-4 and GzmB) when compared with HD. Unsupervised analysis identified a patient subgroup with shorter PFS (p=0.031) whose BM contained increased Tregs, and higher immune-regulatory markers (ICOS, PD-1, LAG-3) on effector T cells. Using single feature analysis, higher frequencies of marrow PD-1+ on CD4+FoxP3- cells and Ki67+ on CD8 cells were independently associated with early relapse. Finally, studying paired pre-treatment and post-ASCT BM (n=5), we note reduced abundance of TCR sequences at day+100, with a greater proportion of expanded sequences indicating a more focused persistent TCR repertoire. Our findings indicate that, following induction chemotherapy and ASCT, marrow T cells demonstrate increased activation and differentiation, with TCR repertoire focusing. Pending confirmation in larger series, higher levels of immune-regulatory proteins on T cell effectors at day+100 may indicate early relapse

Geographical distribution of hepatitis C virus genotypes in blood donors:an international collaborative survey

The frequency of infection with the six classified major genotypes of hepatitis C virus (HCV) was investigated in 447 infected volunteer blood donors from the following nine countries: Scotland, Finland, The Netherlands, Hungary, Australia, Egypt, Japan, Hong Kong, and Taiwan. Viral sequences in plasma from blood donors infected with HCV were amplified in the 5'-noncoding region and were typed by restriction fragment length polymorphism analysis. Electrophoresis of DNA fragments produced by cleavage with HaeIII-RsaI and ScrFI-HinfI allowed HCV types 1 (or 5), 2, 3, 4, and 6 to be identified. Further analysis with MvaI-HinfI allowed sequences of the type 5 genotype to be distinguished from sequences of type 1 genotype. Types 1, 2, and 3 accounted for almost all infections in donors from Scotland, Finland, The Netherlands, and Australia. Types 2 and 3 were not found in the eastern European country (Hungary), where all but one of the donors were infected with type 1. Donors from Japan and Taiwan were infected only with type 1 or 2, while types 1, 2, and 6 were found in those from Hong Kong. HCV infection among Egyptians was almost always by type 4. Donors infected with HCV type 1 showed broad serological reactivity with all four antigens of the second generation Chiron RIBA-2 assay (Chiron Corporation, Emeryville, Calif.), while infection with divergent HCV genotypes elicited antibodies mainly reactive to c22-3 and c33c. Reactivities with antibodies 5-1-1 and c100-3 were infrequent and were generally weak, irrespective of the geographical origin of the donor. Because the envelope region of HCV is even more variable than the NS-4 region, it is likely that vaccines based on these proteins need to be multivalent and perhaps specifically adapted for different geographical regions.link_to_subscribed_fulltex

Molecular and neurological characterizations of three Saudi families with lipoid proteinosis

<p>Abstract</p> <p>Background</p> <p>Lipoid proteinosis is a rare autosomal recessive disease characterized by cutaneous and mucosal lesions and hoarseness appearing in early childhood. It is caused by homozygous or compound heterozygous mutations in the <it>ECM1 </it>gene. The disease is largely uncharacterized in Arab population and the mutation(s) spectrum in the Arab population is largely unknown. We report the neurologic and neuroradiologic characteristics and <it>ECM1 </it>gene mutations of seven individuals with lipoid proteinosis (LP) from three unrelated consanguineous families.</p> <p>Methods</p> <p>Clinical, neurologic, and neuro-ophthalmologic examinations; skin histopathology; brain CT and MRI; and sequencing of the full<it>ECM1 </it>gene.</p> <p>Results</p> <p>All seven affected individuals had skin scarring and hoarseness from early childhood. The two children in Family 1 had worse skin involvement and worse hoarseness than affected children of Families 2 and 3. Both children in Family 1 were modestly mentally retarded, and one had typical calcifications of the amygdalae on CT scan. Affected individuals in Families 2 and 3 had no grossneurologic, neurodevelopmental, or neuroimaging abnormalities. Skin histopathology was compatible with LP in all three families. Sequencing the full coding region of <it>ECM1 </it>gene revealed two novel mutationsin Family 1 (c.1300-1301delAA) and Family 2 (p.Cys269Tyr) and in Family 3 a previously described 1163 bp deletion starting 34 bp into intron 8.</p> <p>Conclusions</p> <p>These individuals illustrate the neurologic spectrum of LP, including variable mental retardation, personality changes, and mesial temporal calcificationand imply that significant neurologic involvement may be somewhat less common than previously thought. The cause of neurologic abnormalities was not clear from either neuroimaging or from what is known about <it>ECM1 </it>function. The severity of dermatologic abnormalities and hoarseness generally correlated with neurologic abnormalities, with Family 1 being somewhat more affected in all spheres than the other two families. Nevertheless, phenotype-genotype correlation was not obvious, possibly because of difficulty quantifying the neurologic phenotype and because of genetic complexity.</p

Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.

Developmental and epileptic encephalopathy 35 (DEE 35) is a severe neurological condition caused by biallelic variants in ITPA, encoding inosine triphosphate pyrophosphatase, an essential enzyme in purine metabolism. We delineate the genotypic and phenotypic spectrum of DEE 35, analyzing possible predictors for adverse clinical outcomes. We investigated a cohort of 28 new patients and reviewed previously described cases, providing a comprehensive characterization of 40 subjects. Exome sequencing was performed to identify underlying ITPA pathogenic variants. Brain MRI (magnetic resonance imaging) scans were systematically analyzed to delineate the neuroradiological spectrum. Survival curves according to the Kaplan-Meier method and log-rank test were used to investigate outcome predictors in different subgroups of patients. We identified 18 distinct ITPA pathogenic variants, including 14 novel variants, and two deletions. All subjects showed profound developmental delay, microcephaly, and refractory epilepsy followed by neurodevelopmental regression. Brain MRI revision revealed a recurrent pattern of delayed myelination and restricted diffusion of early myelinating structures. Congenital microcephaly and cardiac involvement were statistically significant novel clinical predictors of adverse outcomes. We refined the molecular, clinical, and neuroradiological characterization of ITPase deficiency, and identified new clinical predictors which may have a potentially important impact on diagnosis, counseling, and follow-up of affected individuals

Parents’ Awareness of and Perspectives on Childhood Refractive Error and Spectacle Wear in Saudi Arabia

Objectives: This study aimed to assess parents’ awareness of and perspectives on childhood refractive error in Saudi Arabia. Methods: This cross-sectional study included parents from different regions of Saudi Arabia was conducted between October and November 2020 and included 358 parents. Data were collected using an online questionnaire that involved questions to assess parents’ knowledge and perceptions of childhood refractive error and spectacle wear. Results: A total of 358 completed questionnaires were obtained in this study with a response rate of 85%. Almost 38.3% of parents reported that they had never heard of refractive error. One-third (33.7%) mentioned that uncorrected refractive error did not lead to visual impairment. The majority (74.0%) cited using eyeglasses as an effective way to manage childhood refractive error. Two-thirds (63.7%) stated that they did not receive any information about paediatric eye care. Better knowledge was associated with having a higher educational level, being female, and having an older age (p˂0.001, p=0.008, and p=0.024 respectively). Regarding parents' perspective on spectacle wear, almost 13.7% felt that using eyeglasses affected their children's chances of learning. However, 82.7% supposed that eyeglasses did not affect their children's employment opportunities. Approximately 22.1% thought that using eyeglasses would decrease the eyes power resulting in childhood visual impairment. Conclusion: The level of awareness and perceptions of childhood refractive error and spectacle wear was low among parents. Therefore, a policy is needed to improve the awareness and perception of key stakeholders such as parents and teachers. &nbsp;In turn such an improvement could play a crucial role in addressing the poor knowledge and bad perception of treatment for childhood refractive error. Keywords: Childhood visual impairment; spectacle wear; parental attitudes; refractive error; paediatric eye care; psychological effect; vision care; Spectacle compliance