Hémophilie B mineure révélée par une hémorragie cérébrale: à propos d’un cas

L'hémorragie intracrânienne (HIC) du nouveau-né à terme est une pathologie rare, leur prévalence est estimée à 2% des naissances vivantes. Les manifestations cliniques sont variables et non spécifique. Les causes d'HIC sont multiples et souvent intriquées, les mécanismes physiopathologiques principaux sont la dysrégulation du débit cérébral, une obstruction des vaisseaux ou une coagulation intravasculaire; ou une lésion directe par traumatisme. Nous rapportons le cas d'un nourrisson d'un mois qui a été admis dans notre service pour prendre en charge des convulsions associées à une pâleur cutanéomuqueuse, suite à laquelle l'examen biologique a mis fortuitement en faveur une hémophilie mineure sur une maladie hémorragique tardive

Food consumption and lifestyle habits among university students in Saudi Arabia

Food consumption and lifestyle habits can have a positive or negative direct impact on an individual’s health. University students tend to have poor eating habits that are influenced mainly by sensory perceptions. This survey was done to evaluate the status of food consumption and lifestyle habits among Taif university students (males and females). A total of 600 students aged from 18 to 24 years participated in the survey and responded to questions on socio-demographic characteristics, lifestyle habits, eating habits, food consumption frequency, attitude, health and food awareness knowledge. The randomly selected students were from various levels in university representing wide categories and living conditions in Taif Region, Saudi Arabia. The examined students efficiently completed the survey with the help of the university staff. Weight and height were evaluated by a portable standing electronic scale and a portable stadiometer (Seca 879, Germany) to calculate the Body mass index (BMI) classes. Female students recorded 28% of underweight cases, which was higher than the male students (11%) with none significant at p>0.05. The rate of overweight in male students was 30% compared with the female students’ 26%. The study reported 49% and 64% for normal waist circumference for male and female students, respectively. A higher frequency of moderate physical exercise was reported among male students at 60% compared to that among female students (57%). The number of students who did physical exercise regularly was reported to be higher in females (15%) than males (8%). A percentage of 15% and 7% of the male and female students, respectively were smokers. Male students recorded higher sleeping hours than females. Male students reported high media consumption frequency of more than 3 hours a day 67%, followed by 21% between 3-6 hours a day for female students. About 46% and 55% of male and female students, respectively, reported fast-food consumption at least once a week and about 30% of males and 24% females took only 1 to 2 fast food meals in a month. The major meals skipped were breakfast, followed by lunch and dinner; however, this was not significant p>0.05. Meal skipping was high among female students (72%). It was noted that high percentage of male students (72%) reported low consumption levels of vegetables and fruits. The main reason for fast-food consumption was convenience (31%) for males, while females recorded 32% for choices. Female students had a higher score than males in nutrition knowledge. There is a need for awareness creation concerning better food choices, lifestyle habits and weight management that might create a helpful impact on the university student health

Prevalence of thinness cases and dietary diversity among learners of various education stages in Taif Region, Saudi Arabia

Monitoring nutritional status during infancy, childhood, and adulthood is essential because good quality diet during growth is vital to cover the cognitive and physical demands, supply enough energy stores for illnesses and pregnancy and avoid adult nutrition-associated diseases. Thinness cases and lack of dietary diversity among learners in various education stages are common nutritional problems. A cross-sectional survey was carried out for the assessments of thinness cases and dietary diversity among the learners in various education stages in Taif Region, Saudi Arabia in August, 2020. A total of randomly selected 1602 respondents who fulfilled the exclusion and inclusion criteria (n=364 primary schools, n=410 middle schools, n=321 high schools, and n=507 university students) were examined and efficiently completed the survey. The survey comprised of socio-demographic characteristics, questions about health problems, adequate dietary diversity, habits, food item consumption, and nutritional knowledge test based on the student's theory and behaviors. The prevalence of thinness status among university students was very obvious (22%) and found to be mild followed by moderate (11%) and (0.4%) severely thin. The prevalence of severe thinness was the highest among primary school participants (28%). The prevalence of moderate thinness was reported slightly similar among middle and high school participants (29% and 32%, respectively). The highest prevalence of thinness cases was found in students from rural areas, while the lowest values were observed in those from urban areas. Students from large family size were more likely to be thin as compared to students from small size families. Students whose mothers were illiterate or had low formal education were more likely to be thin compared to those students whose mothers had completed university education or above. Further, 78% of primary school students reported meal skipping due to lack of appetite, while shape maintaining for the meal was accounted for 50% for middle school students as the main reason for the meal skipping. Snacking was also reported to be at a high rate among primary and high school students as 76% and 83% of the students mentioned having snacks, respectively. A higher frequency of light physical exercise was established for primary school pupils (81%), while university students reported (34%) as moderate. Almost all students had a low level of eating cereals, fruits and vegetables, while high schools and university students had a high-level consumption of fruits, animal-based foods and nutritional supplements. High school students had an excellent score 37% for nutrition knowledge. Education stage of learners was found to have direct influence on thinness, dietary diversity and food consumption frequency of the respondents. Consequently, nutritional education may positively affect the whole student's ability for good diet choices in the way to ensure a healthier status. The knowledge of nutrition education combined with physical exercise programmers may contribute to strengthening of the healthy eating messages at the various educationstages

Creating language resources for under-resourced languages: methodologies, and experiments with Arabic

Language resources are important for those working on computational methods to analyse and study languages. These resources are needed to help advancing the research in fields such as natural language processing, machine learning, information retrieval and text analysis in general. We describe the creation of useful resources for languages that currently lack them, taking resources for Arabic summarisation as a case study. We illustrate three different paradigms for creating language resources, namely: (1) using crowdsourcing to produce a small resource rapidly and relatively cheaply; (2) translating an existing gold-standard dataset, which is relatively easy but potentially of lower quality; and (3) using manual effort with appropriately skilled human participants to create a resource that is more expensive but of high quality. The last of these was used as a test collection for TAC-2011. An evaluation of the resources is also presented

Broad clinical phenotypes associated with TAR-DNA binding protein (TARDBP) mutations in amyotrophic lateral sclerosis

The finding of TDP-43 as a major component of ubiquitinated protein inclusions in amyotrophic lateral sclerosis (ALS) has led to the identification of 30 mutations in the transactive response-DNA binding protein (TARDBP) gene, encoding TDP-43. All but one are in exon 6, which encodes the glycine-rich domain. The aim of this study was to determine the frequency of TARDBP mutations in a large cohort of motor neurone disease patients from Northern England (42 non-superoxide dismutase 1 (SOD1) familial ALS (FALS), nine ALS-frontotemporal dementia, 474 sporadic ALS (SALS), 45 progressive muscular atrophy cases). We identified four mutations, two of which were novel, in two familial (FALS) and two sporadic (SALS) cases, giving a frequency of TARDBP mutations in non-SOD1 FALS of 5% and SALS of 0.4%. Analysis of clinical data identified that patients had typical ALS, with limb or bulbar onset, and showed considerable variation in age of onset and rapidity of disease course. However, all cases had an absence of clinically overt cognitive dysfunction

Adoption of antenatal care conversation mapping among health care providers in Saudi Arabia: Application of the diffusion innovation theory.

AIM: To measure the factors influencing on the adoption of antenatal care conversation mapping among health care providers in Riyadh (Saudi Arabia), using the diffusion innovation theory. METHODS: 88 healthcare providers (Riyadh) were recruited using a non-probability convenient sampling technique were trained on how to use a newly developed antenatal care conversation map. Data was collected by self-administrated questionnaire on health education services, adoption of conversation map and diffusion of innovation variables. The JMP statistical software from SAS version 14 was used to perform data analysis. RESULTS: Printable tools were most common as used by 72.7% of participants and 83.0% of them did not hear about conversation map. The total mean score of diffusion of innovation variables showed was in general high. The total mean score of relative advantage and observability was high in participants aged between 40 to less than 50 years, while the total mean score of compatibility, complexity, and trialability was high in participants aged from 50 years and more. Significant differences were obtained in both compatibility and trialability considering the health educators specialty, p = 0.03 and p = 0.027 respectively. The linear correlations between diffusion of innovation variables was significantly positive (p-value <0.01). CONCLUSION: All of diffusion of innovation variables were positive as per the opinion of the participants. Applying the conversation map on other health topics in Saudi Arabia and other Arabic-speaking countries is warranted. Measuring and evaluating the adoption rate of conversation mapping among health care providers on other health topics should be explored

FTLD-TDP with motor neuron disease, visuospatial impairment and a progressive supranuclear palsy-like syndrome: broadening the clinical phenotype of TDP-43 proteinopathies. A report of three cases

<p>Abstract</p> <p>Background</p> <p>Frontotemporal lobar degeneration with ubiquitin and TDP-43 positive neuronal inclusions represents a novel entity (FTLD-TDP) that may be associated with motor neuron disease (FTLD-MND); involvement of extrapyramidal and other systems has also been reported.</p> <p>Case presentation</p> <p>We present three cases with similar clinical symptoms, including Parkinsonism, supranuclear gaze palsy, visuospatial impairment and a behavioral variant of frontotemporal dementia, associated with either clinically possible or definite MND. Neuropathological examination revealed hallmarks of FTLD-TDP with major involvement of subcortical and, in particular, mesencephalic structures. These cases differed in onset and progression of clinical manifestations as well as distribution of histopathological changes in the brain and spinal cord. Two cases were sporadic, whereas the third case had a pathological variation in the progranulin gene 102 delC.</p> <p>Conclusions</p> <p>Association of a "progressive supranuclear palsy-like" syndrome with marked visuospatial impairment, motor neuron disease and early behavioral disturbances may represent a clinically distinct phenotype of FTLD-TDP. Our observations further support the concept that TDP-43 proteinopathies represent a spectrum of disorders, where preferential localization of pathogenetic inclusions and neuronal cell loss defines clinical phenotypes ranging from frontotemporal dementia with or without motor neuron disease, to corticobasal syndrome and to a progressive supranuclear palsy-like syndrome.</p

Neuronal sensitivity to TDP-43 overexpression is dependent on timing of induction

Ubiquitin-immunoreactive neuronal inclusions composed of TAR DNA binding protein of 43 kDa (TDP-43) are a major pathological feature of frontotemporal lobar degeneration (FTLD-TDP). In vivo studies with TDP-43 knockout mice have suggested that TDP-43 plays a critical, although undefined role in development. In the current report, we generated transgenic mice that conditionally express wild-type human TDP-43 (hTDP-43) in the forebrain and established a paradigm to examine the sensitivity of neurons to TDP-43 overexpression at different developmental stages. Continuous TDP-43 expression during early neuronal development produced a complex phenotype, including aggregation of phospho-TDP-43, increased ubiquitin immunoreactivity, mitochondrial abnormalities, neurodegeneration and early lethality. In contrast, later induction of hTDP-43 in the forebrain of weaned mice prevented early death and mitochondrial abnormalities while yielding salient features of FTLD-TDP, including progressive neurodegeneration and ubiquitinated, phospho-TDP-43 neuronal cytoplasmic inclusions. These results suggest that neurons in the developing forebrain are extremely sensitive to TDP-43 overexpression and that timing of TDP-43 overexpression in transgenic mice must be considered when distinguishing normal roles of TDP-43, particularly as they relate to development, from its pathogenic role in FTLD-TDP and other TDP-43 proteinopathies. Finally, our adult induction of hTDP-43 strategy provides a mouse model that develops critical pathological features that are directly relevant for human TDP-43 proteinopathies

Broadening the phenotype of TARDBP mutations: the TARDBP Ala382Thr mutation and Parkinson’s disease in Sardinia

Mutations in the TARDBP gene are a cause of autosomal dominant amyotrophic lateral sclerosis (ALS) and of frontotemporal lobar degeneration (FTLD), but they have not been found so far in patients with Parkinson’s disease (PD). A founder TARDBP mutation (p.Ala382Thr) was recently identified as the cause of ~30% of ALS cases in Sardinia, a Mediterranean genetic isolate. We studied 327 consecutive Sardinian patients with clinically diagnosed PD (88 familial, 239 sporadic) and 578 Sardinian controls. One family with FTLD and parkinsonism was also included. The p.Ala382Thr heterozygous mutation was detected in eight unrelated PD patients (2.5%). The three patients from the FTLD/parkinsonism family also carried this mutation. Within the control group, there were three heterozygous mutation carriers. During follow-up, one of these individuals developed motoneuron disease and another, a rapidly progressive dementia; the third remains healthy at the age of 79 but two close relatives developed motoneuron disease and dementia. The eight PD patients carrying the p.Ala382Thr mutation had all sporadic disease presentation. Their average onset age was 70.0 years (SD 9.4, range 51–79), which is later but not significantly different from that of the patients who did not carry this mutation. In conclusion, we expand the clinical spectrum associated with TARDBP mutations to FTLD with parkinsonism without motoneuron disease and to clinically definite PD. The TDP-43 protein might be directly involved in a broader neurodegenerative spectrum, including not only motoneuron disease and FTLD but also PD