Syndrome de Silver Russell: à propos de 3 cas et revue de la litterature

Abstract Le syndrome de Silver Russell (SSR) est une maladie génétique rare. Sa prévalence est estimée à 1/100.000. Il s’agit d’une pathologie de l’empreinte parentale, caractérisée par une grande diversité phénotypique. Ses signes cliniques majeurs sont: un retard de croissance intra-utérin sévère, un retard staturo-pondéral post natal, une dysmorphie cranio-faciale particulière et une asymétrie des membres. Nous rapportons dans ce travail les observations de trois patients, qui présentent un retard staturo-pondéral, une dysmorphie faciale caractéristique du SSR et une hemihypertrophie corporelle. Nous discutons à travers ces cas les aspects cliniques et génétiques de ce rare syndrome.Pan African Medical Journal 2013; 14: 9

Morphological screens using aged primary adult neuronal, microglial, and astrocytic cultures to find novel neurotherapeutics

The average age of a patient with neurotraumatic injuries or neurodegenerative diseases has been increasing worldwide. The preclinical live animal models used for neurotrauma and neurodegenerative diseases are typically young adults, failing to represent the age of humans in the clinic. This dichotomy in age between human populations and animal models is likely to impede the understanding of the pathological mechanisms of most neurological disorders and the translation of their respective promising therapies. This lack of cohesion between animal models and patients in the clinic begins prior to in vivo testing, it starts during the in vitro drug screening phase. Conventional screening methods typically involve the use of stem cell derived neural cells, with some researchers using embryonic derived neural cells instead. These cells lack the fundamental characteristics present in aged neural cells, such as age-induced changes in process length and branching in microglia and how astrocytes respond to various insults. Various technologies and techniques have been developed recently that can help researchers use age-appropriate neural cells for their drug discovery endeavors. The use of age-appropriate neural cells during screening phases is hypothesized to significantly increase the translation rate of the hits to the geriatric patients suffering from neurotraumatic and neurodegenerative diseases

Factors for Success in SMEs: A Perspective from Tangier

Purpose It is becoming increasingly difficult to ignore the importance of the small and medium enterprise (SME) sector in the economic and social development of a country. In view of their identified importance, this present study aims to develop a clearer understanding of the factors that influence success of small and medium enterprises in Tangier, as perceived by local owner-managers. Design The initial research framework, which emanated from a systematic literature review, was empirically investigated using a two-stage design, which incorporated both quantitative and qualitative approaches. The rationale behind the two-stage methodology was firstly to avoid common-method bias; and, secondly, to seek to illuminate findings arising from the survey by providing individual insights. Approaches were employed in succession with the findings from the quantitative phase informing the qualitative phase. Initially, a paper and online survey questionnaire was administered to a population of 365 industrial SMEs, identified from the official website of the Ministry of Commerce, Industry and New Technologies, the 2010 directory of the Association of the Industrial Zone of Tangier as well as its official website, and the website of the Tangier free zone. This survey was used in order to validate the initial conceptual framework and gain some insights on the perceptions of owner-managers of the factors influencing the performance of SMEs. Following the quantitative phase, fifteen in-depth face-to-face semi-structured interviews were conducted with selected owner-managers of SMEs, forming a judgmental sample, to explore their experiences, beliefs, and attitudes with respect to the drivers of success. Findings & conclusions The study found that there are three generalized influences on the success of SMEs based on the Tangier entrepreneurs' perceptions: the 'owner-manager attributes' with an emphasis on the language skills factor; partnership working with an emphasis on the financial and networking partnership; and business characteristics with a focus on the location factor, which was mainly associated with the ‘free zones’. The existence of these ‘free zones’ was a key factor in selecting Tangier as a location for this study

Analysis of Dystrophin Gene Deletions by Multiplex PCR in Moroccan Patients

Duchenne and Becker muscular dystrophy (DMD and BMD) are X-linked diseases resulting from a defect in the dystrophin gene located on Xp21. DMD is the most frequent neuromuscular disease in humans (1/3500 male newborn). Deletions in the dystrophin gene represent 65% of mutations in DMD/BMD patients. We have analyzed DNA from 72 Moroccan patients with DMD/BMD using the multiplex polymerase chain reaction (PCR) to screen for exon deletions within the dystrophin gene, and to estimate the frequency of these abnormalities. We found dystrophin gene deletions in 37 cases. Therefore the frequency in Moroccan DMD/BMD patients is about 51.3%. All deletions were clustered in the two known hot-spots regions, and in 81% of cases deletions were detected in the region from exon 43 to exon 52. These findings are comparable to those reported in other studies. It is important to note that in our population, we can first search for deletions of DMD gene in the most frequently deleted exons determined by this study. This may facilitate the molecular diagnosis of DMD and BMD in our country

Les TIC et les enjeux d'intégration d'un apprentissage coopératif au sein de l'université marocaine

International audienceL'intégration d'un apprentissage coopératif placera l'université marocaine devant des enjeux importants, notamment ceux liées à l'organisation institutionnelle et pédagogique. Comment réussir un tel apprentissage à travers l'intégration des TIC préconisées par le programme GENI 2009-2013 dans l'enseignement supérieur ?Nous proposons donc d'établir un état des lieux, sur la base des bilans préétablis par les différents organismes nationaux et d'une enquête sur terrain appliquée sur 26 étudiants du département Techniques de Management à l'Ecole Supérieure de Technologie de Salé, permettant de dégager les obstacles et les perspectives de l'intégration de « l'apprentissage coopératif » au sein de l'université marocaine

Peningkatan kemampuan berdiri satu kaki melalui permainan tradisional Engklek pada Kelompok A di TK Islam Nurul Azizi 3 Pondok Chandra Indah

Penelitian ini di latar belakangi oleh kesulitan anak dalam berdiri dengan satu kaki kelompok A TK Islam Nurul Azizi 3 Pondok Chandra Indah. Siswa yang tuntas dalam berdiri satu kaki hanya 40%. Penelitian ini bertujuan untuk mengetahui proses penerapan permainan tradisional engklek dalam kemampuan berdiri dengan satu kaki dan untuk mengetahui peningkatan kemampuan berdiri dengan satu kaki melalui permainan tradisional engklek pada kelompok A di TK Islam Nurul Azizi 3 Pondok Chandra Indah. Metode yang digunakan dalam penelitian ini adalah penelitian tindakan kelas dengan model Kurt Lewin. Terdiri dari pra siklus, siklus I, dan siklus II. Penelitian ini mempunyai 4 tahapan yakni perencanaan, pelaksanaan, observasi, dan refleksi. Teknik pengumpulan data pada penelitian ini menggunakan observasi, Wawancara, dan dokumentasi. Teknik analisis data yang digunakan dalam penelitian ini adalah analisis deskriptif. Hasil dari penelitian pada pra siklus nilai rata-rata siswa terbilang rendah yakni 66,78 dengan prosentase 40%, hanya ada 6 siswa yang dikatakan tuntas dari 15 siswa, pada siklus I nilai rata-rata siswa menunjukkan peningkatan yaitu 77,74 dengan prosentase 60%, terdapat 9 siswa dikatakan tuntas dari 15 siswa, sedangkan pada siklus II nilai rata-rata yang didapat yaitu 89,98 dengan prosentase 80%, terdapat 12 siswa dikatakan tuntas. Dapat disimpulkan bahwa penggunaan permainan tradisional engklek dapat meningkatkan kemampuan berdiri dengan satu kaki

Tetrasomy 15q11-q13 Diagnosed by FISH in a Patient with Autistic Disorder

We report the case of a Moroccan boy with mental retardation, hyperactivity, epilepsy, developmental problems and behavioural disorders. Cytogenetic analysis showed the presence of a supernumerary marker chromosome. Molecular cytogenetics allowed us to determine the marker as an inverted duplication of chromosome 15. It is the first case of a Moroccan patient with tetrasomy 15q in which fluorescence in situ hybridization (FISH) enabled us to specify the diagnosis. Interestingly, this patient has an infantile autism with cytogenetic abnormalities on chromosomal region 15q11-q13 as reported in patients with Autistic Disorder

An artificial immune system algorithm for solving the uncapacitated single allocation p-Hub median problem

The present paper deals with a variant of hub location problems (HLP): the uncapacitated single allocation p-Hub median problem (USApHMP). This problem consists to jointly locate hub facilities and to allocate demand nodes to these selected facilities. The objective function is to minimize the routing of demands between any origin and destination pair of nodes. This problem is known to be NP-hard. Based on the artificial immune systems (AIS) framework, this paper develops a new approach to efficiently solve the USApHMP. The proposed approach is in the form of a clonal selection algorithm (CSA) that uses appropriate encoding schemes of solutions and maintains their feasibility. Comprehensive experiments and comparison of the proposed approach with other existing heuristics are conducted on benchmark from civil aeronautics board, Australian post, PlanetLab and Urand data sets. The results obtained allow to demonstrate the validity and the effectiveness of our approach. In terms of solution quality, the results obtained outperform the best-known solutions in the literature

L’intoxication Par Les Cremes Eclaircissantes Au Maroc Profil Epidemiologique

Objectives: In Morocco the large number of cosmetic products is sold freely without control or registration. The lack of knowledge of the composition of these products make therapeutic management in case of poisoning very difficult and sometimes causes unnecessary health spending even if these poisoning are often benign. The objective of this study is to establish the epidemiological profile of a poisoning by lightening creams collected at the Moroccan Poison Control and Pharmacovigilance Center. Methods: This is a retrospective study of poisoning case by lightening creams collected at the Moroccan Poison Control and Pharmacovigilance Center between 1992 and 2008. Results: During the study period, 95 cases were collected. The mean age is 20 years ± 1.4 [1-70 ans], and the F/M sex ratio is 1.73. In 90 (95%) cases, the route of poisoning was oral. The Suicide attempts represent 33 % of cases. Women are often voluntarily intoxicated. However, men were concerned by involuntary intoxication (p = 0.003). Eighty three cases were urban (87%) and 90 cases occured at home (95%). The digestive disorders were found in 68 cases associeted or not with a neurological disorders (33 cases), cardiovascular disorders (14 cases), and respiratory distress (6 cases). The evolution was favorable in all cases. Conclusions: The implementation of the new law recording to the registration of cosmetic products in the ministry of health before marketing will ensure certainly a better orientation of the poisoning case management and improve the patient safety

Pelatihan Digital Marketing dan Pendampingan Legalitas Untuk Mengembangkan Usaha UMKM Entrepreneur Expo UNAIC

UMKM is an economic sector that has an important role in national development. However, MSMEs still face various challenges, such as low mastery of digital marketing and business legality. Therefore, the purpose of this community service activity is to provide digital marketing training and legal assistance for MSME Entrepreneur Expo UNAIC. This community service uses a participatory method, where the service team works with participants in planning, implementing, and evaluating activities. The results of the community service show that the participants experienced an increase in knowledge, skills, and motivation in developing their business through digital marketing and business legality. Participants also received assistance and consultation from the service team in overcoming problems encountered in digital marketing and making legal business identification numbers and halal certificates. This community service activity provides benefits for participants, the service team, and the wider community. This activity also contributes to the development of science and technology in the field of digital marketing and business legality, especially halal certificates. This activity is expected to be an inspiration and model for other similar community service activities