Prenatal Diagnosis of BMD in Morocco: Evolution and Limits

The muscular dystrophy is a group of inherited disorders characterized in the most of cases by progressive muscle weakness. The best known are X-linked disorder Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). BMD is a milder form of the disease with a later age of onset and a slower clinical progression. The DMD gene, located on Xp21, is the largest human gene in the human genome (2.3 Mb). DMD gene consists of 79 exons and codes for dystrophin protein. A 9-year-old boy, who experienced symptoms of the disease, was admitted to the Casablanca University Children’s Hospital. The patient, with no known family history of significant muscle disease, was first examined at 4 years of age because of walking difficulties and a limited hands force. Blood tests revealed elevated serum levels of creatine kinase (7.60 U/L). The electromyogram showed myopathic changes, consisting of polyphasic potentials, and the muscular biopsy revealed dystrophic aspect. Analysis of the dystrophin-encoding gene by PCR deletion analysis of the dystrophin gene was performed by multiplex PCR primer sets of Chamberlain and Beggs. The analysis showed a deletion of exons 45 to 49. Mother genetic testing showed the heterozygosis deletion.     

Graft function 1 year after pregnancy in an islet‐transplanted patient

Pancreatic islet transplantation is a treatment option for patients with type 1 diabetes (T1D), but pregnancy has generally not been advised for women after receiving an islet allograft. We hereby describe what is to our knowledge the first successful pregnancy and persistent graft function in a woman 4 years after her initial islet transplantation. A 37‐year‐old woman with brittle type 1 diabetes was transplanted with two separate islet graft infusions, eventually becoming insulin independent. Ten months after her second transplantation, her immunosuppression was switched from tacrolimus and sirolimus to tacrolimus, azathioprine, and prednisolone, due to her wish to become pregnant. She became pregnant one year later, and after 38 weeks of uncomplicated pregnancy, she gave birth to a healthy child by C‐section. The current report suggests that pregnancy and childbirth can be accomplished after islet transplantation without loss of islet graft function.     

Strategies and conditions for teaching theoretical nursing: an international perspective

How, when, and why to teach nursing theory are still central questions for nurse educators. The questions are restated and generalized to the whys, and hows, and the whens to incorporate theoretical nursing rather than nursing theory in nursing education. Process and strategies for teaching theoretical nursing are compared and contrasted with those related to research. We propose the use of similar strategies and add several essential conditions related to theoretical nursing. In teaching theoretical nursing, educators are expected to develop an environment that values theory and ways by which a theoretical identity is facilitated and fostered in students. Critical and reflective thinking as well as the role modelling of local models of excellence are central ingredients in the development of nurses who are committed to using and developing theories. One approach in incorporating theory in curricula is to identify central components and goals such as historical analyses, domain boundaries, theory utilization, process and strategies for theory development and testing. Once components are identified, faculty can make a decision about where to incorporate them. We have proposed several approaches that incorporate theoretical nursing in undergraduate and graduate programmes.     

SMALL STEPS AND GIANT HOPES: VIOLENCE ON WOMEN IS MORE THAN WIFE BATTERING

Violence against women is a vicious practice present in all societies. Yet data about its occurrence and associated factors are scarce in the Arab world. In this study, we attempt to determine the spread of physical abuse and its sociodemographic correlates among low-income women in Aleppo, Syria. A sample of 411 women was recruited from 8 randomly selected primary care centers in Aleppo. Response rate was 97%, mean age of participants 28 ± 8 years, and most women (88%) were married. A special questionnaire was used including questions about physical abuse, the self-reporting questionnaire (SRQ-20), and questions about relevant sociodemographic information. Current physical abuse (battering at least 3 times during the previous year) was found in 23% of the investigated and among 26% of married women, while regular abuse (battering at least once weekly) was found in 3.3% of married women. Correlates of physical abuse were women’s education, religion, age, marital status, economic status, mental distress, smoking, and residence. Our data show that physical abuse is prevalent in this population and that women's education is the most important modifiable factor.     

Diagnostic and Severity-Tracking Biomarkers for Autism Spectrum Disorder

Autism spectrum disorder (ASD) is a neurodevelopmental disorder afflicting about one in every 68 children. It is behaviorally diagnosed based on a triad of symptoms, including impairment in communication, impairment in sociability and abnormal and stereotypic behavior. The subjectivity of behavioral diagnosis urges the need for clinical biomarker tests to improve and complement ASD diagnosis and treatment. Over the past two decades, researchers garnered a broad range of biomarkers associated with ASD and often correlating with the severity of ASD, which includes metabolic and genetic biomarkers or neuroimaging abnormalities. Metabolic biomarkers are either involved in key pathways such as a trans-sulfuration pathway or produced due to the derangement of these pathways in the case of oxidative stress. Recent studies reported several genetic abnormalities related to ASD, encompassing various mechanisms, from copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) to chromosomal anomalies. However, it is still premature to consider these genetic variants as true biomarkers for ASD, due to their low reproducibility and regional-specific nature. Herein, we comprehensively review state of the art about major biomarkers reported in ASD and the association of some biomarkers with ASD symptoms and severity. It is important to establish those biomarkers to be able to help in the diagnosis and to optimize the treatment of ASD.     

Modulatory effects of Saussurea lappa root aqueous extract against ethephon‐induced kidney toxicity in male rats

Ethephon (2‐chloroethyl phosphonic acid) is a plant growth promoter used to control the plant growth process by liberating ethylene and stimulating the production of endogenous ethylene. Medicinal plants are sources of novel drug discovery targets. Costus (Saussurea lappa) has been used as traditional Chinese medicine. The current study was conducted to examine the possible modifying effects of costus (S. lappa) root aqueous extract against kidney toxicity induced by ethephon in male rats. A total of 50 adult male rats were divided into five groups (first, control; second, costus; third, ethephon; fourth, posttreated ethephon with costus; fifth, ethephon self‐healing). There is a significant increase in the serum levels of urea, creatinine, potassium ions, chloride ions, kidney injury, DNA damage, and proliferating cell nuclear antigen expressions in treated rats with ethephon when compared to the control group. In contrast, the treated rats with ethephon revealed a significant decrease in the levels of sodium ions and an insignificant decrease in the calcium ions. Saussurea lappa extract modified these alterations when compared to the control group. As a result, costus root extract significantly reduced rat kidney toxicity after ethephon administration. We recommend costus to be included in diet for its valuable effects, and also producers and consumers should become more aware about the toxic effects of ethephon.