40 ans des Soins de Santé de Base en Tunisie d'Alma Ata à Astana. Il est temps de revitaliser la première ligne des soins

In order to readjust the national policy of Basic Health Care (SSB) to the declaration of Primary Health Care (SSP) of Astana (2018), 40 years after that of Alma Ata (1978), this paper summarizes the lessons learned from the international and national experience of PHC / SSB and presents the originator lines of the roadmap of the second version of SSB in Tunisia. WHO and Unicef have identified four lessons from PHC policy: 1. Political leadership, prioritizing primary care. 2. Sufficient funding to ensure the availability of basic services and their access by the population served. 3. Health personnel specifically trained in primary care, with decent working conditions. 4. A support strategy for the quality of care, based on financial and moral motivation. In Tunisia, the history of SSBs has memorized images of successes such as the organization of simulation sessions for the preparation of the “oral rehydration solution”, “mobile teams” of home visits, “deadlines” for monitoring vaccination and “school social action units” for multisectoral management of the problem of school backwardness. The "Think Tank" groups, having reflected on the perspectives of SSBs in Tunisia, came up with a roadmap made up of four fundamental axes. 1. Creation of a National Health Insurance Fund (CNAS), affiliated with the Ministry of Health, and promoting prevention and health promotion. 2. Focus on non-communicable diseases, both young and old. 3. Establishment of a periodic health assessment, stratified by sex and age, guiding health behaviors and "self-care" skills. 4. The development of “nursing homes”, providing continuous care, by multi-functional and multidisciplinary teams. Thus, the reform of the SSB policy of Tunisia, by referring to the Astana declaration and the cumulative national expertise, is essential to revitalize the first line of care and ensure the Tunisian population a "health for all", leaving no one behind”.     

Role of environmental factors in autism spectrum disorders in Saudi children aged 3-10 years in the Northern and Eastern regions of Saudi Arabia

Objectives:To study the environmental factors which can contribute to the development of autism spectrum disorders in Saudi children aged 3-10 years in Northern region (Arar) and Eastern region (Dammam) in the Kingdom of Saudi Arabia.Methods:A case control study was conducted and the data was collected from September 2017 to December 2017 by interviewing the parents of 100 Saudi autistic children and 100 normal children aged 3-10 years from Arar and Dammam. A specially designed questionnaire was used to collect the data which includes socio-demographic characteristics of the parents and ante-natal history of the mother and developmental history, social history and dietary habits of the child. To find out the association between environmental factors and development of autism in children, logistic regression with odds ratio used.Results:There was a significant association between consanguineous marriages and autism. A significant association was also found between medications taken by the mother during pregnancy and autism. Significantly lowered ORs for Autism were observed for children in families of perceived adequate income and children consuming a Vitamin-D rich diet. Increased maternal age was observed in autistic children when compared to normal children.Conclusion:The environmental factors which could contribute to the development of autism are consanguineous marriage, inadequate family income, medications taken by the mother during pregnancy, vitamin D deficient diet of the child and maternal age during pregnancy.

Autism spectrum syndrome (ASD) consists of a group of developmental disorders that are difficult to detect without trained personnel. It is characterized by qualitative impairments in social interaction, qualitative impairments in communication, and restricted repetitive, stereotyped patterns of behavior, interests, and activities.1 The number of children diagnosed with autism spectrum disorder is rising.2,3 It is not clear whether it is due to better detection and reporting or a real increase in the number of cases.4,5 Many factors can contribute to increase in prevalence estimates including changes in diagnostic criteria and specialized diagnostic tools.The causes of autism remain unclear even though genetic and environmental factors may play a role in increasing the risk of autism. Researchers claim that toxic food contaminants like mercury can affect metabolism and alter neuronal plasticity and cause autism in children.6 Studies have shown that supplementation with Vitamin D and Tryptophan is an affordable solution to prevent autism.7 According to one study, high iron intake decreases autism.8 Other risk factors that increase the chance of having a child with autism are consanguinity, advanced parental age, and maternal lifestyle.9-11 Vaccinations are sometimes cited as a cause of autism, but there is no definite evidence to prove it.12According to World health organization (WHO) fact sheet published in April 2017, one in 160 children have autism spectrum disorder. Despite its increasing rate, currently autism remains untreatable.13 Most of the research in the field of autism has been conducted in Western countries. In the Arab world, the research conducted in the field of autism is relatively less. Autism was not the subject of interest in the region until the late 1990s. Lack of awareness and culture as well as lack of resources contribute to the unmet needs of autism patients in the region.14 The males diagnosed with autism are 4 times more when compared to females.Although various studies have been conducted in ASD’s etiology across the world, only few scientific researches have been conducted in Middle East especially in Kingdom of Saudi Arabia (KSA).15 Also, dietary habits should be looked into as they could help in identifying high risk foods that could affect their children.16 The present study was therefore undertaken to explore the various environmental factors including dietary factors which can contribute to the development of autism.     

The use of diffusion‐weighted MR imaging in the functional assessment of the testes of patients with clinical varicocele

We aimed to evaluate the use of diffusion‐weighted imaging (DWI) in the assessment of the varicocele effect on testicular parenchyma and spermatogenesis, with estimation of apparent diffusion coefficient (ADC) value changes in the testicular parenchyma. We prospectively evaluated 30 consecutive patients (18 patients with bilateral varicocele and 12 patients with unilateral varicocele) and 10 healthy controls. US and DWI were performed to all patients. A total of 80 testes were included, which divided into three groups: group A: testes ipsilateral to the varicocele (n = 48, 60%); group B: testes contralateral to the varicocele (n = 12, 15%); and group C: normal testes of the control (n = 20, 25%). There was a statistically significant difference in mean ADC value between all groups (p‐value < 0.001). In groups A and B, there was a negative correlation between mean ADC values and varicocele grade as well as pampiniformis venous diameter. In group A, there was a significant positive correlation between mean ADC value and sperm count (p‐value = 0.01, r‐value = 0.48) as well as sperm motility (p‐value = 0.04, r‐value = 0.33). DWI sequence can be used to evaluate the sequel of varicocele, with decreased ADC values that are significantly correlated with abnormal semen parameters. Thus, ADC values may be considered as an ancillary indicator of testicular parenchyma changes.     

DFNB66 and DFNB67 loci are non allelic and rarely contribute to autosomal recessive nonsyndromic hearing loss

We previously mapped the DFNB66 locus to an interval overlapping the DFNB67 region. Mutations in the LHFPL5 gene were identified as a cause of DFNB67 hearing loss (HL). However, screening of the coding exons of LHFPL5 did not reveal any mutation in the DFNB66 family. The objective of this study was to check whether DFNB66 and DFNB67 are distinctive loci and determining their contribution to HL. In the DFNB66 family, sequencing showed absence of mutations in the untranslated regions and the predicted promoter sequence of LHFPL5. Analysis of five microsatellites in the 6p21.31–22.3 region and screening of the LHFPL5 gene by DNA heteroduplex analysis in DHPLC revealed a novel mutation (c.89dup) in one out of 129 unrelated Tunisian families with autosomal recessive nonsyndromic (ARNS) HL. Our findings suggest that two distinct genes are responsible for DFNB66 and DFNB67 HL. These loci are likely to be a rare cause of ARNSHL.     

Germinal mosaicism in Noonan syndrome: A family with two affected siblings of normal parents

Noonan syndrome (NS; OMIM 163950) is an autosomal dominant disorder with variable clinical expression and genetic heterogeneity. Clinical manifestations include characteristic facial features, short stature, and cardiac anomalies. Mutations in protein-tyrosine phosphatase, non-receptor-type 11 (PTPN11), encoding SHP-2, account for about half of NS patients. We report on a Moroccan family with two children with NS and apparently unaffected parents. The molecular studies showed the heterozygous mutation c.922A>G of PTPN11 gene in the two affected sibs. Neither the parents, nor the oldest brother carries this mutation in hematologic cells. The mutation was also absent in buccal epithelial cells and fingernails of both parents. We believe this is the first report of germ cell mosaicism in NS and suggest an empirical risk for recurrence of that is less than 1%.