Novel StAR Gene Mutation Identified in a Moroccan Patient with Lipoid Congenital Adrenal Hyperplasia

Congenital Adrenal Hyperplasia (CAH) is an autosomal recessive condition  that results from the deficiency of one of the steroidogenesis enzymes responsible for cortisol biosynthesis. In the majority of cases, CAH is caused by   21-hydroxylase deficiency. More rarely, the deficiency concerns  11b-hydroxylase, 3b-hydroxysteroid dehydrogenase, 17hydroxylase, or exceptionally StAR and P450 oxydoreductase. Here, we report the case of a 3 year and 4 months old male child,  born from a consanguineous marriage who presented at 15 months old with the salt-loss syndrome. Physical examination found generalized melanoderma, micropenis and bilateral cryptorchidism. Biological assessment at the time of diagnosis revealed hyponatremia, hyperkalemia, functional renal failure, hypoglycemia, low blood cortisol level, and high blood level of ACTH,  suggesting primary adrenal insufficiency. The patient presented  also with the abnormality of sexual differentiation with a 46 XY karyotype, testosteronemia level was low at the baseline and after HCG stimulation, pelvic ultrasound and MRI showed bilateral testicular atrophy in the inguinal position. The genetic study revealed a likely pathogenic homozygous variant in the StAR (steroidogenic acute regulatory) gene. Therapeutically, our patient was hydrated by saline solution and treated with hydrocortisone and fludrocortisone, then benefited from a surgical testicular correction marked by a favorable evolution. Although mutations in StAR gene are rare, they can be responsible for the defect in the early stage of steroidogenesis and therefore cause a deficiency in adrenal and sexual hormones biosynthesis

Series and integral representations of the Taylor coefficients of the Weierstrass sigma-function

We provide two kinds of representations for the Taylor coefficients of the Weierstrass $\sigma$-function $\sigma(\cdot;\Gamma)$ associated to an arbitrary lattice $\Gamma$ in the complex plane $\mathbb{C}=\mathbb{R}^2$ - the first one in terms of the so-called Hermite-Gauss series over $\Gamma$ and the second one in terms of Hermite-Gauss integrals over $\mathbb{C}$.Comment: 12 page

Addressing social responsibility of kidney healthcare facilities in Africa

Social responsibility (SR) in health is of paramount importance in the development of health systems. It is, therefore, frequently presented as one of the solutions for healthcare improvement in most developed countries. In addition, SR in health has been the subject of several publications in the West and Asia. However, the absence of African data on this subject motivated us to carry out this study which aimed to assess SR of African public hospitals in terms of kidney disease management, and to explore the factors that influence it based on the perceptions of patients and nephrologists, and to suggest concrete solutions to improve it.Material and methodsOur study included participants, nephrologists and patients, of public hospitals in ten African countries. Two structured questionnaires were developed to measure the perception of patients and nephrologists regarding the hospital's performance based on four dimensions: Quality of service, pertinence of care, accessibility and professional ethics. Statistical analysis of the survey data included the Student's t-test, the Chi-square test, univariate and multivariate logistic regression methods on several levels, in order to examine the factors influencing the patients’ and nephrologists’ evaluation of hospital SR.ResultsOnly 26.95% of the included patients believed that their hospitals were socially responsible. In fact, the general conditions of the hospitals and the accessibility of care (waiting times, overall cost, unavailability of treatments) were generally perceived to be unsatisfactory. Also, patients generally believed that receiving treatment regardless of their ability to pay was not always possible.As for doctors, 60% of the participants considered their hospitals not socially responsible. They had raised, in addition to the social determinants of health, a number of factors hindering SR of African hospitals, such as the lack of health professionals and brain drain.Finally, nephrologists suggested solutions, mainly directed at hospital managers, encompassing the following three components: Recruitment and training of human resources, leadership and governance, as well as strengthening of infrastructures and logistics.ConclusionOur study highlighted the crucial role of hospital governance and stakeholder involvement in improving SR and care delivery. Participants’ perceptions and concerns inform health authorities about managing kidney disease in African hospitals

Generalized second Bargmann transforms associated with the hyperbolic Landau levels on the Poincar\'e disk

We deal with a family of generalized coherent states associated to the hyperbolic Landau levels of the Schr\"odinger operator with uniform magnetic field on the Poincar\'e disk. Their associated coherent state transforms constitute a class of generalized second Bargmann transforms.Comment: 7 page

Massire project: Strengthening networks for agricultural and rural innovation in oases and arid zones of the Maghreb

The Massire Project (2019–2024) was a research-for-development project implemented by a consortium of research and education institutions from Morocco, Algeria, Tunisia and France. It was funded by IFAD, with a financial contribution of project academic partners. The project aimed to strengthen agricultural and rural innovation systems in the oases and arid zones of Morocco, Algeria, and Tunisia. Addressing challenges such as resource vulnerability, biodiversity loss, and social inequalities, the project facilitated sustainable development pathways through innovative, participatory, and inclusive approaches