Neonatal sepsis due to NDM-1 and VIM-2 co-producing Pseudomonas aeruginosa in Morocco.

BACKGROUND: Carbapenem-resistant Pseudomonas aeruginosa are being increasingly described worldwide. Here, we investigated the molecular mechanisms underlying carbapenem resistance in an extremely drug-resistant P. aeruginosa isolate from a neonatal intensive care unit in Morocco. MATERIALS AND METHODS: P. aeruginosa strain O82J1 was identified using MALDI-TOF-MS. Carba NP, immunochromatographic assay NG Carba5 and antimicrobial susceptibility testing using disc diffusion and microbroth were performed. Whole-genome sequencing using the Illumina and MinION technologies and different software packages available at the Center of Genomic Epidemiology were used to predict the resistome, sequence type and plasmid types. RESULTS: P. aeruginosa O82J1 co-expressed two metallo-ß-lactamases, blaNDM-1 and blaVIM-2, and was susceptible to colistin and apramycin only. It belonged to ST773 that is frequently reported worldwide as a high-risk P. aeruginosa clone. The blaVIM-2 gene was integron-borne on a IncP-2 465-kb plasmid, whereas the blaNDM-1 gene was chromosomally encoded and embedded in an integrative conjugative element, probably at the origin of its acquisition. A total of 23 antimicrobial resistance genes were detected including a blaPER-1 ESBL gene, and an 16S-rRNA methyltransferase gene rmtB. CONCLUSIONS: The isolation of XDR P. aeruginosa isolates expressing several carbapenemases in a neonatal intensive care unit is of great concern due to the reduced treatment options, relying only on colistin, but not recommended in neonates, and apramycin, not yet approved for human therapy. Concerns were further elevated due to the resistance to cefiderocol and ATM/AVI, two novel and last-resort antibiotics recommended to treat infections caused by Gram-negative bacteria, particularly XDR P. aeruginosa in adults.

Cluster analysis of cancer knowledge, attitudes and behaviors in the Moroccan population.

BACKGROUND: Cancer has become a major health concern due to the increasing morbidity and mortality rates, and its negative social, economic consequences and the heavy financial burden incurred by cancer patients. About 40% of cancers are preventable. The aim of this study was to assess the knowledge, attitudes, and practices regarding cancer prevention, and associated characteristics to inform the development of targeted cancer prevention campaigns and policies. METHODS: We conducted a cross-sectional survey of adult patients at Mohamed Sekkat and Sidi Othmane Hospitals in Casablanca, Morocco. Data collection was conducted by two trained interviewers who administered the questionnaire in-person in the local language. An unsupervised clustering approach included 17 candidate variables for the cluster analysis. The variables covered a wide range of characteristics, including demographics, health perceptions and attitudes. Survey answers were calculated to compose qualitative ordinal categories, including a cancer attitude score and knowledge score. RESULTS: The cluster-based analysis showed that participants in cluster 1 had the highest mean attitude score (13.9 ± 2.15) and percentage of individuals with a high level of knowledge (50.8%) whereas the lowest mean attitude score (9.48 ± 2.02) and knowledge level (7.5%.) were found in cluster 3. The participants with the lowest cancer attitude scores and knowledge levels were aged 34 to 47 years old (middle age group), predominantly females, living in rural settings, and were least likely to report health professionals as a source of health information. CONCLUSIONS: The findings showed that female individuals living in rural settings, belonging to an older age group, who were least likely to use health professionals as an information source had the lowest levels of knowledge and attitudes. These groups are amenable to targeted and tailored interventions aiming to modify their understanding of cancer in order to enhance the outcomes of Morocco's on-going efforts in cancer prevention and control strategies.

Chemotherapy-related adverse effects with anthracycline and taxane-containing regimens in patients with localized Breast cancer: a descriptive study : Mohammed VI University Hospital, Medical Oncology Department, Marrakech, Morocco.

BACKGROUND: Although the side effects of chemotherapy are frequently described in research studies, there is little evidence on how common they are in everyday clinical care. This study's goal was to assess the most prevalent short-term side effects experienced by patients with localized breast cancer, undergoing chemotherapy based on anthracyclines and taxane-containing treatments, at the medical oncology department of the Mohammed VI University Hospital of Marrakech, Morocco. METHODS: This was a descriptive study. We conducted a listening session at the outpatient department of the hospital with the help of a structured questionnaire. The session engaged 122 women who had undergone cycles of chemotherapy. A chi-square test was used to compare the incidence and relative risk of short side effects with both anthracycline and taxane-containing regimens. RESULTS: The average age of participants was 49.1 years. In both regimens, the findings highlighted the frequency and relative risk of the following adverse effects: systemic symptoms (fever, asthenia and sleep disorder), gastrointestinal toxicity (Vomiting, nausea, diarrhoea, constipation, mucositis and loss of appetite), dermatological toxicity (Skin reactions on hands/feet, nail toxicity, allergies, alopecia and peripheral edema), neurological toxicity (neuropathy), arthromyalgia and ocular toxicity. CONCLUSIONS: In conclusion, it is crucial for healthcare professionals to be conscious of the significance of these adverse effects. They must also know how to manage them. Likewise, the listening approach highlights its importance in the daily follow-up and monitoring of patients.

Breast cancer treatment and its impact on survival in Morocco: a study over a decade.

BACKGROUND: In Morocco, much progress has been made in breast cancer treatment. However, there is limited information on survival outcomes of breast cancer patients according to their therapeutic management. METHODS: A pattern-of-care study was conducted in Morocco's two main oncology centres: Rabat and Casablanca and has shown that major progress has been made in the quality of care with survival rates comparable to those in developed countries. The present study focuses on the different therapeutic strategies used in breast cancer and their impact on prognosis. Patients were classified into two categories: those considered as appropriately managed and those who were not. RESULTS: A total of 1901 women with stage I to III breast cancer were included in this study, the majority (53%) were adequately managed and had better disease-free survival (DFS) rates than those who were not: DFS at 3 years (88% versus 62%) and at 5 years (80% versus 50%). Potential significant determinants of better management were: treatment in Rabat's oncology centre, treatment between 2008 and 2012, being aged younger than 60 years, and early TN stage. CONCLUSION: This study demonstrated the value of proper integrated and coordinated management in a comprehensive cancer centre, to improve breast cancer survival.

Immunoglobulin E-Mediated Food Sensitization in a Moroccan Pediatric Population with Celiac Disease.

INTRODUCTION: Celiac disease is a chronic autoimmune disorder that occurs following the ingestion of gluten, in genetically predisposed individuals. Patients with celiac disease, especially children, are likely prone to develop allergic reactions to different food allergens. However, the relationship between food allergy and celiac disease remains not elucidated. The aim of this pioneering study was to evaluate the prevalence of allergic food sensitization in children with celiac disease in Morocco. METHODS: A total of 57 children with confirmed celiac disease, including 25 males and 32 females with a mean age of 8.6 ± 4.4 years, underwent a food allergen-specific immunoglobulin E (IgE) screening. This screening was conducted using a multiparametric immunodot assay (Euroline Food "Maghreb," Euroimmun). Statistical analysis was performed using R software. RESULTS: Among the 57 cases tested, the overall rate of IgE-mediated sensitization to food allergens was found to be 48% (27/57), dominated by chicken, with 51.9% (14/27), followed by almond, 40.7% (11/27), sesame, 40.7% (11/27), potato 33.3% (9/27), and apple 18.5% (5/27). Of the s-IgE positive cases, 74% were sensitized at least to one allergen, 37% (10/27) were sensitized to both chicken and almond allergens. A significant correlation was observed between almond, sesame, chicken, and potato. CONCLUSION: The current study highlighted a high prevalence of food allergen sensitization in children with celiac disease. This underlines the potential benefit in screening for food allergy in celiac patients.

Cytogenetic and epidemiological profile of chronic myeloid leukemia in Morocco.

Chronic myeloid leukemia (CML) is a neoplastic disease of genetic origin resulting from clonal proliferation of hematopoietic stem cells (HSCs). The reciprocal translocation t(9;22)(q34;q11) is the main chromosomal abnormality involved in this pathology, usually detected by conventional cytogenetics. This article aims to investigate the epidemiological, cytogenetic, therapeutic, and clinical characteristics of Moroccan patients with CML. This research represents the first large-scale study of CML patients in Morocco and was carried out at Institut Pasteur of Morocco. Bone marrow samples were processed for cytogenetic analysis, and karyotypes were described according to an international system of human cytogenetic nomenclature (ISCN 2016). Patients were studied according to their epidemiological characteristics, clinical information and cytogenetic results. For statistical calculations, R version 4.3.1 was used to analyze the data and calculate the statistical parameters. RStudio and Power BI were used for data visualization. The National Cancer Institute (NCI) Surveillance, Epidemiology, and End Results (SEER) method of incidence estimation was used to calculate our incidence. We received 826 patients (from 1992 to 2023) who were referred for suspected CML or who were undergoing treatment. Only 650 patients with confirmed CML were included in the study, all of whom underwent their first cytogenetic test. The median age of our patients was 45 years and the sex ratio was 1.03. At the time of diagnosis, 147 (30%) of the patients had clinical manifestations. Most patients were diagnosed in the chronic phase (94.5%). Nineteen complex variant translocations of the Philadelphia (Ph) chromosome were detected. At the time of diagnosis, 55 (11.5%) patients had ACAs, of which 30 (54.5%) were high-risk ACAs. Based on data from 174 patients treated with imatinib, the median time to complete cytogenetic response (CCyR) was 11 months, and at the last cytogenetic follow-up, 81 patients (46.6%) achieved CCyR, while 64 patients (36.8%) showed no response to treatment. Regarding adherence to European LeukemiaNet (ELN) guidelines, 58 patients (33%) were followed according to these guidelines, with optimal treatment in 8.6%, suboptimal treatment in 7% and treatment failure in 18%. The estimated incidence of chronic myeloid leukemia calculated is 0.6 cases per 100,000 in the Casablanca region. This study provides a detailed overview of CML in Morocco, highlighting important clinical, cytogenetic and therapeutic aspects despite some limitations. It also highlights the need to deepen our understanding of this complex disease for disease management in our specific context.

Epidemiology and risk factors for staphylococcal urinary tract infections in the Moroccan Casablanca area.

PURPOSE: This study aimed to ascertain the prevalence and risk factors for developing staphylococcal urinary tract infections (UTIs) in the Casablanca area of Morocco. METHODS: In Casablanca, Morocco, a retrospective evaluation of 772 UTIs patients was conducted between January 2020 and December 2022. The research included two groups of patients: those with staphylococcal UTIs and those without. Sex, age, chronic illnesses, antibiotic exposure, urinary catheterization, urological surgery, and UTIs history were the risk variables assessed. We employed a logistic regression model to identify the characteristics that were predictive of staphylococcal UTIs. RESULTS: Eight staphylococcal species were responsible for 16.84% of UTIs in 772 non-repeating individuals. Patients infected with S. saprophyticus (35.38%) were the most common, followed by those infected with S. epidermidis (24.61%), S. aureus (13.85%), and S. hemolyticus (10.78%). Multivariate logistic regression analysis revealed that male sex (95% CI: 0.261-0.563), immunosuppression and immunosuppressive treatments (95% CI: 0.0068-0.64), chronic diseases (95% CI: 0.407-0.965), previous UTIs (95% CI: 0.031-0.228), frequency of urination more than 8 times a day (95% CI:1.04-3.29), frequency of urination once or twice a day (95% CI: 1.05-2.39), and urinary catheterization (95% CI: 0.02-0.22) were the most likely predictors of staphylococcal UTIs. In addition, a larger proportion of patients with staphylococcal UTIs were made aware of the risk factors associated with staphylococcal UTIs (52.31%, χ2 = 4.82, = 0.014). CONCLUSIONS: This is the first global study to evaluate the predictive factors for acquiring UTIs caused by staphylococci. Monitoring these factors will enable medical authorities to devise effective strategies for managing UTIs and combating antibiotic resistance.

RAS Mutations Predict Recurrence-Free Survival and Recurrence Patterns in Colon Cancer: A Unicenter Study in Morocco.

PURPOSE: To date, only a few studies have investigated the role of molecular alterations in cancer recurrence. This exploratory study aimed to evaluate the impact of molecular alterations on the time and site of recurrence in patients with stage I-IV CRC and to identify the risk factors predicting recurrence-free survival in colon cancer. METHODS: A total of 270 patients were retrospectively included. We assessed the full RAS status using Sanger and pyrosequencing. MSI status was determined by immunohistochemical analysis. Molecular alterations were correlated with recurrence timing (early or late), recurrence patterns, and recurrence-free survival. Statistical analysis was performed using the Kaplan-Meier method and the log-rank test. RESULTS: Of the 270 patients, 85 (31%) experienced recurrence, among whom 53% had mutant full RAS status, 48% had KRAS mutations, and 31.4% had KRAS p. G12V mutation subtype. Compared with those with late recurrence, patients with early recurrence were significantly older (P = 0.02) and more likely to have poorly differentiated tumors, a higher rate of positive lymph nodes, KRAS mutations, and especially KRAS p. G12V mutation variant. RAS mutation status, KRAS mutations, and rare mutations are more common in patients with lung cancer recurrence. Multivariate logistic regression analysis revealed that differentiation, perineural invasion, full RAS mutation status, and KRAS codon 13 mutations were independent factors for recurrence-free survival in colon cancer. CONCLUSION: In this cohort, the timing and patterns of recurrence appeared to be associated with the patient's molecular profile. KRAS codon 12 mutations were the worst predictors of recurrence-free survival at all stages in our population.

KRAS, NRAS and BRAF Mutational Profile of Colorectal Cancer in a Series of Moroccan Patients.

OBJECTIVES: The present study aimed to evaluate the frequencies of KRAS, NRAS, and BRAF mutations and their possible associations with clinicopathological features in 249 Moroccan patients with colorectal cancer (CRC). METHODS: A retrospective investigation of a cohort of formalin-fixed paraffin-embedded tissues of 249 patients with CRC was screened for KRAS/NRAS/BRAF mutations using Idylla™ technology and pyrosequencing. RESULTS: KRAS, NRAS, and BRAF mutations were revealed in 46.6% (116/249), 5.6% (14/249), and 2.4% (6/249) of patients. KRAS exon 2 mutations were identified in 87.9% of patients (102/116). KRAS G12D and G12 C were the most frequent, at 32.8% and 12.93%, respectively. Among the patients with KRAS exon 2 wild-type (wt), 27.6% (32/116) harbored additional KRAS mutations. Concurrent KRAS mutations were identified in 9.5% (11/116); including six in codon 146 (A146P/T/V), three in codon 61 (Q61H/L/R), one in codon 12 (G12 A and Q61H), and one in codon 13 (G13D and Q61 L). Among the NRAS exon 2 wt patients, 64.3% (9/14) harbored additional NRAS mutations. Concurrent NRAS mutations were identified in 28.6% (4/14) of NRAS-mutant patients. Since 3.2% wt KRAS were identified with NRAS mutations, concomitant KRAS and NRAS mutations were identified in 2.4% (6/249) of patients. KRAS mutations were higher in the >50-year-old age-group (P = .031), and the tumor location was revealed to be significantly associated with KRAS mutations (P = .028) predominantly in left colon (27.5%) and colon (42.2%) locations. NRAS mutations were most prevalent in the left colon (42.8%) and in well-differentiated tumors (64.2%). CONCLUSION: Detection of KRAS mutations, particularly the G12 C subtype, may be significant for patients with CRC and has possible therapeutic implications. However, rare KRAS concomitant mutations in CRC patients suggest that each individual may present distinct therapeutic responses. KRAS testing alongside the identification of other affected genes in the same patient will make the treatments even more personalized by contributing more accurately to the clinical decision process. Overall, early diagnosis using novel molecular techniques may improve the management of CRC by providing the most efficient therapies for Moroccan patients.

Loneliness and regular sports participation among people of Turkish and Moroccan origin and native Dutch people in the Netherlands. A longitudinal study.

OBJECTIVE: Sports participation is lower in people of Turkish and Moroccan origin in the Netherlands than in native Dutch people. Addressing this inequality calls for better insights into antecedents of sports participation in different ethnic groups. Theorists suggested that loneliness may hamper sports participation, and levels of loneliness are high among people of Turkish and Moroccan origin. This study assessed the longitudinal association between loneliness and regular sports participation among Turkish origin, Moroccan origin and native Dutch people. METHODS: Data are from Turkish origin (n = 394), Moroccan origin (n = 387) and native Dutch (n = 1663) people who participated in Wave 1 (2008-2010) and Wave 2 (2013) of the Netherlands Longitudinal Lifecourse Study. Regular sports participation at follow-up was regressed on loneliness at baseline in logistic regression models adjusted for baseline sports participation and a range of confounders. Models were stratified by ethnic group. RESULTS: Turkish and Moroccan origin people had lower rates of regular sports participation and higher levels of loneliness than native Dutch people. Loneliness at baseline was negatively associated with sports participation at follow-up for people of Turkish and Moroccan origin. No evidence of a longitudinal association between loneliness and sports participation among native Dutch people was found. CONCLUSIONS: The demonstrated positive longitudinal association between loneliness and regular sports participation in people of Turkish and Moroccan origin potentially opens new ways to encourage physical activity in these groups. An integrated approach to addressing loneliness and physical inactivity among people with a non-western migration background may benefit the realization of both goals.

PrEPare_Morocco a successful community-based PrEP delivery demonstration program for men who have sex with men and female sex workers in Morocco.

Pre-exposure prophylaxis (PrEP) is an effective HIV prevention tool, recommended for persons at substantial risk for HIV, such as female sex workers (FSW) and men who have sex with men (MSM). We present Morocco's and the Middle East/North Africa's first PrEP demonstration project. Our pilot aimed to assess the feasibility and acceptability of a community-based PrEP program for FSW and MSM in Morocco's highest HIV prevalence cities: Agadir, Marrakech, and Casablanca. From May to December 2017, 373 eligible participants engaged in a 5-9 month program with daily oral TDF/FTC and clinic visits. Of these, 320 initiated PrEP, with 119 retained until the study's end. We report an 86% PrEP uptake, 37% overall retention, and 78% retention after 3 months. No seroconversions occurred during follow-up. These results underscore PrEP's need and acceptability among MSM and FSW and demonstrate the effectiveness of a community-based PrEP program in Morocco. These findings informed Morocco's current PrEP program and hold potential for the wider region with similar challenges.

Is serum albumin a pivotal biomarker in anticipating acute pancreatitis outcomes?

This study aimed to assess the significance of serum albumin levels within 24 h of patient admission in correlation with the incidence of outcomes and mortality in patients diagnosed with acute pancreatitis. A retrospective study was conducted over a 5-year period, from January 2018 to December 2023, at the Mohammed VI University Hospital in Oujda, Morocco. The study included 371 patients diagnosed with acute pancreatitis. Hypoalbuminemia (≤ 30 g/L) was observed in 124 patients (33.4% of cases), and these patients had a higher mean age compared to those with normal albumin levels (P = 0.003). Hypoalbuminemia was significantly associated with persistent Systemic Inflammatory Response Syndrome (SIRS) (70.8% vs. 29.2%, P = 0.000), a higher BISAP score (66.7% vs. 33.3%, P = 0.000), and a higher CTSI score (51.7% vs. 48.3%, P = 0.000). Hypoalbuminemia was also associated with the presence of pleural effusion (P = 0.000). The mortality in the sample was 4.6%, and it was significantly associated with hypoalbuminemia (76.5%, P = 0.000). In conclusion, serum albumin levels within 24 h of patient admission appear to be a significant prognostic biomarker in acute pancreatitis, particularly in anticipating persistent organ failure and mortality.

Independent clinic-based evaluation of point-of-care testing for the screening of Chlamydia trachomatis, Neisseria gonorrhoea and Trichomonas vaginalis in women-at-risk in Australia, Guatemala, Morocco, and South Africa.

BACKGROUND: In 2018, the World Health Organization commenced a multi-country validation study of the Cepheid GeneXpert for a range of molecular-based point-of-care (POC) tests in primary care settings. One study arm focused on the evaluation of POC tests for screening 'women at risk' for chlamydia (CT), gonorrhoea (NG) and trichomonas (TV) in four countries - Australia, Guatemala, Morocco and South Africa. METHODS: Study participants completed a pre-test questionnaire which included demographics, clinical information and general questions on POC testing (POCT). Two vaginal swab samples (either self-collected or clinician collected) from each patient were tested on the GeneXpert at the POC and at a reference laboratory using quality-assured nucleic acid amplification tests (NAATs). RESULTS: One thousand three hundred and eighty-three women were enrolled: 58.6% from South Africa, 29.2% from Morocco, 6.2% from Guatemala, and 6.0% from Australia. 1296 samples for CT/NG and 1380 samples for TV were tested by the GeneXpert and the reference NAAT. The rate of unsuccessful tests on the GeneXpert was 1.9% for CT, 1.5% for NG and 0.96% for TV. The prevalence of CT, NG and TV was 31%, 13% and 23%, respectively. 1.5% of samples were positive for all three infections; 7.8% were positive for CT and NG; 2.4% were positive for NG and TV; and 7.3% were positive for CT and TV. Compared to reference NAATs, pooled estimates of sensitivity for the GeneXpert tests were 83.7% (95% confidence intervals 69.2-92.1) for CT, 90.5% (85.1-94.1) for NG and 64.7% (58.1-70.7) for TV (although estimates varied considerably between countries). Estimates for specificity were ≥96% for all three tests both within- and between-countries. Pooled positive and negative likelihood ratios were: 32.7 ([CI] 21.2-50.5) and 0.17 (0.08-0.33) for CT; 95.3 (36.9-245.7) and 0.10 (0.06-0.15) for NG; and 56.5 (31.6-101.1) and 0.35 (0.27-0.47) for TV. CONCLUSION: This multi-country evaluation is the first of its kind world-wide. Positive likelihood ratios, as well as specificity estimates, indicate the GeneXpert POC test results for CT, NG and TV were clinically acceptable for ruling in the presence of disease. However, negative likelihood ratios and variable sensitivity estimates from this study were poorer than expected for ruling out these infections, particularly for TV. TRIAL REGISTRATION: Ethics approval to conduct the ProSPeRo study was granted by the WHO Ethics Review Committee, as well as local ethics committees from all participating countries.

Epidemiology, outcomes and prognosis of infective endocarditis in Northern Morocco.

INTRODUCTION: Infective endocarditis is a rare but potentially severe disease, associated with significant morbidity and mortality. Our study aims to describe the epidemiology and management aspects of endocarditis in northern Morocco and compare it with international management guidelines. MATERIALS AND METHODS: This is a retrospective study involving all patients hospitalized in the cardiology department of the University Hospital of Tangier for infective endocarditis over a period of 4 years and 7 months, from May 2019 to February 2024. RESULTS: Eighty patients were hospitalized for IE during the study period. The average age of the patients was 46 years, with an even sex ratio. IE concerned native valves in 77% of cases, mechanical prostheses in 19% of cases, and on bio prostheses in 4%. The average diagnostic delay was 25 days. Blood cultures were negative in 59% of cases. The predominant infective microorganism was the bacteria Staphylococcus (65.6%). Imaging results showed vegetations in 76.3% of cases, predominantly on the mitral valve (39.3%), followed by the aortic valve (21.3%). The main complications included heart failure (51.2%), peripheral arterial embolisms (22.5%) and splenic infarction (17.5%). Management wise, the most commonly used antibiotic therapy was a combination of ceftriaxone and gentamicin. Clinical and biological improvement was observed in 70% of cases, with a mortality rate of 12.5%. Twelve patients underwent surgery (15%). Urgent surgery was indicated in 66,7% of the operated patients. CONCLUSION: Our study highlights the challenges in managing infective endocarditis in northern Morocco. The prognosis of infective endocarditis can be improved through multidisciplinary management within the implementation of an Endocarditis Team.

Exome sequencing reveals pathogenic mutations in the LARS2 and HSD17B4 genes associated with Perrault syndrome and D-bifunctional protein deficiency in Moroccan families.

BACKGROUND: Syndromic hearing loss (SHL) is characterized by hearing impairment accompanied by other clinical manifestations, reaching over 400 syndromes. Early and accurate diagnosis is essential to understand the progression of hearing loss and associated systemic complications. METHODS AND RESULTS: In this study, we investigated the genetic etiology of sensorineural hearing loss in three Moroccan patients using whole exome sequencing (WES). The results revealed in two families Perrault syndrome caused by LARS2, p. Asn153His; p. Thr629Met compound heterozygous variants in two siblings in one family; and p. Thr522Asn, a homozygous variant in two sisters in another. The patient in the third family was diagnosed with D-bifunctional protein deficiency (D-BPD), linked to compound heterozygous mutations p. Asn457Tyr and p. Val643Argfs*5 in HSD17B4. Molecular dynamic simulation results showed that Val643Argfs*5 does not prevent HSD17B4 protein from binding to the PEX5 receptor, but further studies are recommended to verify its effect on HSD17B4 protein functionality. CONCLUSION: These results highlight the effectiveness of WES in identifying pathogenic mutations involved in heterogeneous disorders and the usefulness of bioinformatics in predicting their effects on protein structure.

A series of four patients with Sotos syndrome harboring novel NSD1 mutations: clinical and molecular description.

BACKGROUND: Sotos syndrome is a rare and complex genetic disorder caused by haploinsufficiency of the NSD1 gene. This syndrome is characterized by rapid early childhood growth, distinct facial features, a learning disability, and multiple other developmental and behavioral challenges. METHODS AND RESULTS: In this work, we describe four Moroccan patients with variable clinical presentations of Sotos syndrome, in whom we identified four novel NSD1 monoallelic pathogenic variants by conducting targeted Next Generation Sequencing. Genetic testing allowed us to provide a precise medical diagnosis to our patients and tailor interventions to each patient's needs. CONCLUSIONS: Being the first work describing a series of Moroccan patients with this syndrome, this case series contributes to the growing body of literature on Sotos syndrome and provides valuable insights into the clinical and molecular characteristics of this rare disorder.

Knowledge, attitudes and practices towards epilepsy in morocco: A cross-sectional study.

BACKGROUND: This study aims to assess knowledge, practices and attitudes of the general Moroccan population towards epilepsy and to highlight predictive factors. METHOD: A cross-sectional study was conducted in the Casablanca-Settat Moroccan region. A questionnaire was used to collect sociodemographic data and item answers from 400 people with epilepsy (PWE) and without epilepsy caregivers on dependent variables: knowledge, attitudes, and practices towards epilepsy. Bivariate and logistic regression analyses were performed using IBM SPSS Statistics 21.0. Statistical significance was set when P value < 0.05. RESULTS: The rates of poor knowledge, practices, and attitudes toward epilepsy were 11.5 %, 41 %, and 66.6 %, respectively. In the multivariate analysis, the risk of having poor knowledge about epilepsy was favored by lack of education (ORa = 4.31;CI95%:1.83-10.13;p = 0.001) and the absence of familiarity with epilepsy (ORa = 4.05;CI95%:1.92-8.54;p < 0.001). The risk of preferring allopathic practices to treat epilepsy was associated with lack of education (ORa = 2.21;CI95%:1.01-4.82;p = 0.046), residence in a city outside Casablanca (ORa = 2.33;CI95%:1.06-5.15;p = 0.035), age over 59 years (ORa = 2.50;CI95%:1.26-4.95; p = 0.008), residence in a rural areas (ORa = 4.41;CI95%:2.61-7.47;p < 0.001) and absence of familiarity with epilepsy (ORa = 4.08;CI95%:2.33-7.15;p < 0.001). Predictors of stigma towards epilepsy were female sex (ORa = 3.05;CI95%:2.04-4.56;p < 0.001) and the tendency to abandon anti-seizure medication for allopathic alternatives (ORa = 3.98;CI95%:2.21-7.17;p < 0.001), whereas advanced age was a protective factor (ORa = 0.57;CI95%:0.36-0.89;p = 0.014[39-59 years vs 18-29 years];ORa = 0.44;CI95%:0.23-0.82;p = 0.011[>59 years vs 18-29 years]). CONCLUSIONS: The rate of poor attitudes and treatment-seeking behavior was high. This socio-cultural context certainly impacts the quality of life and care of Moroccan PWE. These results should be considered to raise awareness in the Moroccan population.

Unraveling the Diversity of GJB2 Mutations in Nonsyndromic Hearing Loss: A Comprehensive Study in the Moroccan Population.

INTRODUCTION: Despite the high genetic heterogeneity of hearing loss, mutations in the GJB2 gene are a major cause of autosomal recessive nonsyndromic hearing loss (NSHL) worldwide. However, the mutation profile of GJB2 in NSHL is under-investigated in Morocco, especially among simplex cases. This study aimed to identify the spectrum and frequency of GJB2 mutations in the Moroccan population among simplex and multiplex families with NSHL. METHODS: Moroccan families with NSHL were selected according to well-defined criteria. Selected families were screened for GJB2 gene variants using direct sequencing of the entire coding region of GJB2. RESULTS: A total of 145 affected individuals from 115 families with NSHL were included in this study (49 simplex, 66 multiplex). Mutations in the GJB2 gene were noted in 28.69% of the families (33/115), of which 75.75% were multiplex families and 24.24% were simplex. In total, seven different mutations were detected: c.35delG(p.G12fs), c.551G>A(p.R184Q), c.139G>T(p.E47X), c.109G>A(p.V37I), c.167delT(p.L56fs), c.617A>G(p.N206S), c.94C>T(p.R32C). The last three mutations have not previously been reported in Morocco. The most common GJB2 mutation was c.35delG (21.73%), followed by p.V37I (2.60%) and p.E47X (1.73%). CONCLUSIONS: Our study confirms a high prevalence of GJB2 variants in the Moroccan population, particularly the c.35delG mutation. Additionally, we have identified previously unreported or rarely reported mutations, revealing a greater diversity of GJB2 mutations. These findings emphasize the importance of comprehensive screening beyond the 35delG mutation for patients with NSHL, regardless of their family history. Integrating this approach into clinical care will enhance diagnosis and management of hearing loss in the Moroccan population.

A GIS-based modified PAP/RAC model and Caesium-137 approach for water erosion assessment in the Raouz catchment, Morocco.

Water erosion poses a significant environmental threat in the Mediterranean region, with pronounced impacts observed throughout Morocco. It impairs soil quality and disrupts both sediment transport and water availability. Contributing factors range from natural (climate, topography, and geology) to anthropogenic (land use, vegetation cover, and management). This study introduces an improved Priority Actions Program/Regional Activity Centre (PAP/RAC) model, enriched with GIS and the Caesium-137 (137Cs) technique, to investigate erosion within Morocco's Raouz basin. Enhanced with additional variables including soil types, slope length, rainfall erosion potential, slope orientation, soil moisture, and land surface temperature, the model transcends the classical approach, promoting granularity and precision in predictions. In addition to the comprehensive model, the 137Cs method, which discerns long-term soil erosion and redistribution, provides a dual-faceted validation, bolstering the robustness of this project's erosion risk evaluation. This study's outcomes underscore the gravity of the erosion hazard with significant soil depletion rates ranging from 8.1 to 20 t ha-1 yr-1, demonstrating the model's alignment with empirical data, affirming its utility. The modified PAP/RAC model concurs with the 137Cs data, demonstrating its usefulness for water erosion assessment and management in similar areas.

Hydrogeochemical assessment of aquifer salinization in north-eastern Morocco's Gueroaou coastal plain using statistical methods.

The Guerouaou aquifer investigation spanning 280 km2 in Ain Zohra yields promising outcomes, instilling optimism for regional water quality. These analyses were applied to 45 sampling instances from 43 wells, enabling a comprehensive water quality assessment. Groundwater conductivity ranged from medium to high, peaking at 18360 ms/cm2. The conductivity reveals insights about the groundwater's mineralization. Key physiochemical parameters fell within desirable thresholds, bolstering the positive perspective. HCO3- levels spanned 82-420 mg/L, while chloride content ranged from 38 to 5316 mg/L, benefiting water quality. NO3- ions, vital for gauging pollution, ranged from 0 to 260 mg/L, indicating favorable results. Cation concentrations exhibited encouraging variations: Ca2+- 24 to 647 mg/L, Mg2+- 12 to 440 mg/L, Na+- 18 to 2722 mg/L, K+- 1.75 to 28.65 mg/L. These collectively favor water quality. Halite breakdown dominated mineralization, as evidenced by the prevalence of Na-Cl-Na-SO4 facies. Water resource management and local communities need effective management and mitigation strategies to prevent saltwater intrusion.