Moroccan Patients Research Articles

Positive and negative syndromes in schizophrenia: analysis of determinants and severity of symptoms in Moroccan patients

Abstract Background Schizophrenia is a debilitating psychiatric condition distinguished by a variety of cognitive, emotional, and behavioral manifestations. It affects an individual’s cognition, emotions, and actions, resulting in challenges in discerning reality from illusion. The objective of the current study was to assess the determinants and severity of symptoms in Moroccan patients hospitalized in Ar-Razi Hospital, Rabat, Morocco using Positive and Negative Syndromes scales (PANSS). Methods One hundred sixty-one schizophrenic patients were admitted to Ar-Razi Hospital in Sale. The PANSS scale, in conjunction with a sociodemographic questionnaire, is utilized as the assessment tool for symptoms. A chi-square test at a 5% error level and a Pearson correlation test were applied to investigate possible associations. Results The findings demonstrate a significant bias towards males (9:1), with 90% being unmarried, and 96.3% originating from urban settings. The breakdown of patients based on symptoms reveals a prevalence of 14.3% for the positive scale, 18% for the negative scale, and 11.2% for the psychopathological scale. The correlation analysis demonstrates a strong relationship between the three scales. The factors that were found to have a notable impact are gender (p < 0.000), functional ability (p < 0.032), socioeconomic status (p < 0.008), living environment (p < 0.05), and use of tobacco and cannabis. Conclusion Confronted with this scenario, healthcare professionals are required to evaluate the key factors in the timely detection of schizophrenia and advocate for the consistent utilization of the PANSS scale in the management and monitoring of patients.

Phenotypes of 126 Moroccan HIES patients according to NIH Score.

Hyper-IgE syndrome is a group of inborn errors of immunity, some of which are syndromic, characterized clinically by the classic triad of chronic eczema, cutaneous and/or pulmonary staphylococcal infections and high serum IgE concentrations (> 2000 IU/ml or > 10 x normal for age). We report here the clinical and immunological aspects of Moroccan patients presenting probable or possible HIES according to NIH-HIES score. This retrospective study covers the period from 1998 to 2023 and includes Moroccan patients with a clinical presentation suggestive of HIES (skin and/or pulmonary infections, eczema, high IgE levels) and an NIH score ≥ 20. We attempted to classify the patients phenotypically according to the 2022 IUIS IEI Expert Committee classification. Median age at symptom onset was 0.5 years and median age at diagnosis was 5.5 years. The main clinical signs were eczema (66%), skin abscesses (32.5%), pneumonia (32.5%), otitis (20%), mucocutaneous candidiasis (19%), diarrhea (12%), facial dysmorphism (10.3%), lymphadenopathy (9.5%), bronchial dilation (8%), pneumatoceles (8%), conjunctivitis (7.1%), rhinitis (6.3%), psychomotor delay (5.6%), pathological fractures (4%), retention of deciduous teeth (4%), cognitive delay (3.2%). This is the first clinical description of a cohort of Moroccan patients presenting HIES according to NIH criteria. Phenotype can sometimes orient towards identification of the mutated gene, but the overlapping clinical signs make molecular analysis necessary for genetic counseling and appropriate treatment.

Cross-Cultural Adaptation and Pilot Psychometric Validation of the European Organisation for Research and Treatment of Cancer-Quality of Life Questionnaire-Sexual Health (EORTC QLQ-SH22) Scale, Moroccan Arabic Version.

The Sexual Health Scale (QLQ-SH22) is the only cancer-specific measure of sexual health. It has never been translated into Arabic. In order to envisage effective healthcare strategies that improve sexual quality of life, the validation of the Moroccan version of this scale is a crucial step in exploring the influence of cancer and its treatment on patients in the Moroccan context. In this regard, this study aimed to validate a Moroccan Arabic version among patients with cancer. A total of 280 Moroccan patients with cancer participated in this study from August 2022 to April 2023. The translation and cross-cultural adaptation of the QLQ-SH22 was performed following the EORTC guidelines. Psychometric validation was explored using the reliability of internal consistency, test-retest reliability, and confirmatory factor analyses (CFA). The analysis revealed a greater internal consistency for both sexual satisfaction (α = 0.83) and sexual pain (α = 0.86). The intraclass correlation coefficient indicated an excellent level of test-retest reliability (from 0.925 to 0.993). The CFA demonstrated high-performing model fit indices (χ2/df = 1.17, SRMR = 0.05, RMSEA = 0.035, GFI = 0.94, CFI = 0.99, TLI = 0.99, IFI = 0.99, NFI = 0.94). The concurrent validity between the QLQ-C30 and QLQ-SH22 confirmed a strong correlation between the fatigue scales in both questionnaires (r = 0.69). This version showed good discrimination between known groups. The QLQ-SH22 Moroccan Arabic version has demonstrated a high level of reliability and validity, and therefore it is now ready for use.

Beliefs of Moroccan patients with chronic inflammatory rheumatic diseases regarding medication: related factors and correlation with therapeutic adherence

BackgroundMedication adherence is one of the key elements of the management of patients with chronic inflammatory rheumatic diseases (CIRDs), adherence/medication regimes are prone to being influenced by beliefs about medicines; such beliefs can influence the management and quality of life of patients. Several factors may be associated with these beliefs, including demographic and clinical factors, as well as socio-psychological factors. The aim of this study is to assess beliefs regarding medications among Moroccan patients with CIRDs, the factors associated with these beliefs, and the correlation of these factors with medication adherence.Material and methodThis cross-sectional study included patients with CIRDs. Sociodemographic data, comorbidities, and information about CIRDs (type, disease duration, pain evaluation, disease activity and treatments) were collected. Beliefs regarding medication were assessed by the Belief about Medicine Questionnaire (BMQ). Therapeutic adherence was assessed using the Arabic version of the Compliance Questionnaire in Rheumatology (CQR). Sociopsychological factors, such as catastrophism and trust in physicians, were assessed by the Pain Catastrophizing Scale (PCS) and the Trust in Physicians Scale (TPS), respectively.ResultOur sample included 189 patients. The average age was 47.49 ± 13.7; 52.4% had comorbidities; and 49.2% had a low level of education. Of the patients, 49.7% were on glucocorticoids, 61.9% on conventional synthetic disease-modifying antirheumatic drugs and 6.3% on biologics. The median necessity-concern differential was 6 [1–12]. Of the patients, 67.4% strongly believed that medication was essential to maintain their health. The long-term side effects were the main concerns about medicines (51.3%). In a multivariate analysis, there was a statistically significant association between low level of education, catastrophizing, methotrexate use, and trust in the physician as independent factors and the BMQ necessity-concern differential as the dependent factor. There was also a significant correlation between CQR and the BMQ necessity score.ConclusionMoroccan patients with CIRDs have a rather positive perception of their medication. This perception seems to influence their adherence to treatment. Low levels of education, catastrophizing, methotrexate use, and trust in physicians are the most important factors associated with patients’ beliefs regarding medication.

Molecular diagnosis of Alpha-sarcoglycanopathies by NGS in seven Moroccan families and report of two novel variants.

Limb-girdle muscular dystrophies constitute a heterogeneous group of neuromuscular diseases, both clinically and genetically. Limb-girdle muscular dystrophy by alpha-sarcoglycan deficiency or LGMD R3 α-sarcoglycan-related is a subtype of the autosomal recessive sarcoglycanopathies caused by variants in the alpha-sarcoglycan gene (SGCA) at 17q21.33. It appears in childhood by progressive weakness of pelvic and/or scapular girdle muscles and calf hypertrophy, with a wide range of clinical inter- and intra-familial clinical variability. Our report extends the molecular spectrum of SGCA gene with the identification of variant disease causing and will help for better management of patients and genetic counseling of families. In our study, seven unrelated families presented a clinical and paraclinical picture consistent with alpha-sarcoglycanopathy. A molecular study using Next-Generation Sequencing (NGS) was carried out on them. Six different homozygous variants of the SGCA gene were identified in the patients analyzed, including four previously reported variants and two novel variants predicted to be deleterious by the prediction tools. Our results expand the spectrum of variants in Moroccan patients with sarcoglycanopathy, specifically LGMDR3, most importantly as this form is not common in the Moroccan population.

In-depth exploration of differences of sex development: 5-year experience in a tertiary center.

Differences/disorders of sex development (DSD) encompass a wide range of conditions. Their clinical spectrum and etiological diagnosis have not been reported in Moroccan patients. The study aims to highlight the clinical spectrum, etiological diagnosis, and management of patients with DSD. This is a retrospective study of all patients diagnosed with DSD under the age of 18 years, who were referred to the Pediatric Endocrinology Department and the Medical Genetics Laboratory at HASSAN II University Hospital of Fez between June 2018 and June 2023. Out of 57 patients, 54.4% (n = 31) were diagnosed with 46,XX DSD, the most common type, while 45.6% (n = 26) had 46,XY DSD. Patients with 46,XX DSD presented earlier than those with 46,XY DSD, at a median age of 0.08 years and 0.96 years, respectively. The most commonly reported complaint was atypical genitalia. At the first presentation, the sex of rearing was already assigned to 26 males and 27 females. All patients with 46,XX DSD were diagnosed with congenital adrenal hyperplasia (CAH) at a median age of diagnosis of 0.92 years. Of these, 11 patients were raised as males. Disorders of androgen action or synthesis were more common in XY patients (69.2%). The consanguinity rate was 46.5%, and there were 19 cases with a positive family history, with 10 siblings having died. DSD are not rare in Morocco. Overall, CAH remains the most frequent DSD etiology. Molecular genetic analyses are needed to determine the accurate etiological distribution of DSD, especially in XY patients.

A prospective epidemiological investigation of human leukocyte antigen-B*57:01 in HIV-1-infected Moroccan subjects

BackgroundThe occurrence of hypersensitivity reactions to abacavir, a significant adverse effect, affects approximately 5–8% of Caucasians. Multiple studies conducted in diverse populations have underscored the association between Human Leukocyte Antigen-B*57:01 and abacavir-hypersensitivity reactions. In late 2021, the Moroccan National AIDS Program issued new anti-retroviral therapy protocols for HIV management, including abacavir as an option for the first-line ART regimen. However, data regarding the HLA-B*57:01 prevalence of HIV in Morocco is scarce. This study aims to assess the prevalence of HLA-B*57:01 in both HIV-1-infected children and adults in Morocco. MethodsFrom April to December 2022, we screened 292 HIV-1 infected patients, 70 children and 222 adults, for the HLA-B*57:01 allele using sequence-specific oligonucleotide probes reverse hybridization method. The flow cytometry was used to assess the TCD4 lymphocyte count. The virological status was evaluated using quantitative real-time PCR. Sanger sequencing is under process to confirm the results obtained. ResultsOf 292 HIV-1-infected patients, 12 (4.1%) had the HLA-B*57:01 allele (95% CI, 2.1–7.1). 5 of 70 (7.2%) and 7 of 222 (3.2%) of children and adults were respectively, HLA-B*57:01 positive. There was no statistical association between clinical characteristics (TCD4 cell count and VL) and HLA-B*57:01 allele carriage. ConclusionThe prevalence of HLA-B*57:01 in Moroccan patients was 4.1%, comparable with that of other Middle Eastern populations, higher than that in South African populations but lower than that in Caucasians and Southwest Asians. Our findings indicate an urgent need for HLA-B*57:01 screening before abacavir to reduce the risk of hypersensitivity reactions.

Evaluation of the Fluorion HCV QNP v3.0 real-time PCR assay for quantifying HCV RNA in Moroccan patients: A comparative study with COBAS AmpliPrep/COBAS TaqMan HCV v2.0

PurposeHepatitis C Virus (HCV) RNA quantification is crucial for diagnosing and monitoring chronic HCV treatment. Cost-effective methods are crucial to ensure accessibility. This study evaluated the Fluorion HCV QNP v3.0 Real-Time PCR assay's effectiveness in EDTA-plasma and serum, comparing it with the COBAS AmpliPrep/COBAS TaqMan HCV v2.0 (CAP/CTM HCV v2.0) test. Methods105 matched pairs of EDTA-plasma and serum specimens (91 positive and 14 negative) from HCV infected Moroccan patients were analyzed using the Fluorion HCV QNP v3.0 assay and compared to the CAP/CTM HCV v2.0 test, being the reference method. ResultsThe values obtained by the Fluorion HCV QNP v3.0 in plasma were slightly higher than those in serum (3.94 ± 2.23 log10 IU/mL versus 3.91 ± 2.22 log10 IU/mL) and were both significantly lower than those quantified by the CAP/CTM HCV v2.0 assay (4.34 ± 2.28 log10 IU/mL; p < 0.001). High correlations were observed between the Fluorion HCV QNP v3.0 serum and CAP/CTM HCV v2.0 (R2 = 0.9433), the Fluorion HCV QNP v3.0 plasma and CAP/CTM HCV v2.0 (R2 = 0.949) and the Fluorion HCV QNP v3.0 serum and plasma (R2 = 0.9954). HCV RNA was detected in all tested genotypes by both assays. ConclusionThe Fluorion HCV QNP v3.0 assay demonstrated excellent performance in comparison with the CAP/CTM HCV v2.0 on both plasma and serum samples which can be used interchangeably for HCV quantification. The test was shown to be suitable for disease monitoring including all HCV genotypes.

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

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. 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. 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.

Immunotherapy and PD-L1 Tumor Expression in Moroccan Non-Small Cell Lung Cancer Patients with Various Metastasis.

The question of whether tumor expression of PD-L1 and the presence of distant metastasis could influence the efficacy of immunotherapy represents a major challenge and needs to be further elucidated. The aim of this study is to evaluate the predictive significance of tumor expression of PD-L1 as well as the number and site of metastasis in non-small cell lung cancer (NSCLC) among Moroccan patients treated with immunotherapy. Between January 2019 and February 2023, we recruited Moroccan patients with metastatic NSCLC. All were treated with immunotherapy, either as monotherapy or in combination with chemotherapy. Immunohistochemistry was used to assess PD-L1 (clone 22C3) and ALK (clone D5F3) status. EGFR status was established by qPCR. Tumor PD-L1 expression was classified into 2 levels: TPS <1% (negative expression) and TPS ≥1% (positive expression). Statistical analysis was performed using SPSS Statistics V.21 software. The median age of patients (N=40) was 67 years (39- 92 years) and the sex ratio was 9. Disease dissemination revealed that 22.5% (N=9) of patients had a metastatic burden ≥ 3 (MB≥3). As for the sites of metastasis, the results showed that 20% (N=8), 10% (N=4), 42.5% (N=17), 22.5% (N=9), 27.5% (N=11), 45% (N=18) and 27.5% (N=11) of patients had developed lymph node, liver, bone, brain, pleural, contralateral lung and adrenal metastasis respectively. Positive PD-L1 expression was significantly associated with shorter overall survival (OS = 17.19 vs. 28.85 months, p=0.01). High metastatic burden (MB ≥ 3) was associated with lower objective response rate (ORR), shorter progression-free survival (PFS), and reduced OS, respectively (ORR = 0 vs. 58.06%, p=0.002; PFS = 10.23 vs. 25.27 months, p=0.001; and OS = 11.60 vs. 27.91 months, p=0.003). Only the presence of osseous metastasis was significantly associated with lower ORR, shorter PFS, and OS compared to other metastatic locations (ORR = 5.88 vs. 73.9%, p=0.000; PFS = 10.72 vs. 31.33 months, p=0.000; and OS = 11.39 vs. 36.17 months, p=0.000). Finally, the presence of hepatic metastasis was significantly associated with shorter PFS (10.75 months) compared to those without hepatic metastasis (22.53 months) (p=0.046). Finally, the results of the multivariate analysis revealed that the presence of bone metastasis was strongly correlated with a significant decrease in progression-free survival (p=0.001) as well as overall survival (p=0.002). Our results suggest that tumor expression of PD-L1 and metastatic burden should play a significant role in predicting the response to immunotherapy. Furthermore, it is important to note that the presence of osseous and hepatic metastasis could negatively influence the clinical outcomes of immunotherapy.

Immunological markers of rheumatoid arthritis in the Moroccan population

Aim: few studies exist on HLA-DRB1 alleles and their association with RA in North Africa. We aimed to provide an evaluation of the distribution of the HLA-DRB1* and -DQB1* genes in Moroccan patients with early RA. Additionally, we sought to analyze the relationship between HLA molecules and the production of rheumatoid factor (RF) and anti-cyclic citrullinated peptide antibodies (anti-CCP) in these patients. Methods: 65 patients with rheumatoid arthritis benefited from HLA class II typing (DRB1* and DQB1*) and testing for anti-CCP and RF antibodies. The frequency of HLA alleles was compared to that of 180 healthy controls. Logistic regression analysis was used to investigate the association of HLA-DR and -DQ molecules in the different subgroups according to anti-CCP and RF status. Results: The frequency of HLA-DRB1*04 and *11 alleles is increased in patients compared to controls (OR = 1.9; 95% CI (1.06-3.30), P=0.029; OR=2, 95% CI (1-3.83, P=0.047, respectively). 56 patients (86.1%) were RF positive, and 67.7% were anti-CCP positive. A significant increase in the frequency of DRB1*04 alleles was also noted in seropositive patients. Conclusion: Our results suggest the predisposition of the HLA-DRB1*04 allele and the seropositive status of patients with RA. This could be useful in predicting the evolution of RA and establishing a diagnosis in some patients at an early stage of disease use.

COVID-19 vaccine hesitancy among patients with chronic inflammatory rheumatic diseases

Objectives: This survey explores how patients with inflammatory rheumatic diseases perceive the COVID-19 vaccine and what factors influence their decision to get vaccinated. Methods: This anonymous phone survey employs a cross-sectional design to gather data from adult Moroccan patients (over 18 years old) diagnosed with chronic inflammatory rheumatic diseases (CIRD), including rheumatoid arthritis (RA), spondyloarthropathy, and undifferentiated CIRD. Results: A total of 321 participants responded to the questionnaire. The mean age of patients was 47.6±12 years and women represented 65.7% of the study population. The intention to vaccinate against Covid-19 was reported in 34.6% of the cases. Beliefs that Covid-19 vaccines were man-made, and that they are intended to inject microchips into recipients and that the vaccines were made to force people to get vaccinated were found in 22.7%, 3.2% and 8.7% of respondents, respectively. In univariate and multivariate analysis, the conspiracy beliefs that were associated with vaccination intention were the idea that Covid-19 vaccine was made to force people to get vaccinated (p&lt;0.001) and to reduce world’s population (p&lt;0.001). Conclusion: The study revealed a low vaccination intention against COVID-19 among Moroccan CIRD patients. This association between COVID-19 vaccine conspiracy theories and vaccine hesitancy highlights the need for targeted awareness campaigns to combat misinformation and improve vaccine acceptance within this population.

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

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. 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. 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.

Diet and joint symptoms: A survey of Moroccan patients with osteoarthritis

Introduction. Patients with osteoarthritis not only ask about the impact of weight on their symptoms, but also the impact of food. This includes foods that are described as either inflammatory or anti-inflammatory. The aim of our study was to investigate the possible relationship between food and osteoarthritis symptoms. Methods. The study was based on a questionnaire and it was conducted on patients undergoing osteoarthritis treatment in our department between February and September 2022. Results. We included 322 patients with a mean age of 59.57 ± 10.71, of whom 72.9% were women. The median duration of osteoarthritis was 4 years [2-10]. Only 7.9% reported that food affected their symptoms, with 4.4% experiencing improvement and 3.5% experiencing aggravation. The foods most often cited as improving joint symptoms were fish (1.2%), ginger (1.2%), and olive oil (1.2%), while red meat (1.2%) and soda (0.9%) were the most often cited as worsening symptoms. Approximately 2.2% of the patients exhibited food avoidance behaviors, while 3.7% adhered to specific diets and 1.3% tried fasting to alleviate joint symptoms. In this multivariate analysis, we suggest that certain diet practices have an impact on osteoarthritis symptoms. Conclusion. Our study found that only a minority of patients reported associations between some types of food and worsening or improving joint symptoms.

Assessing the Vaccination Status and Barriers to Influenza, Pneumococcal, and COVID-19 Vaccination Among Moroccan Patients With Chronic Inflammatory Rheumatic Disease.

To evaluate the vaccination coverage of patients with chronic inflammatory rheumatic disease (CIRD) against influenza, pneumococcus, and COVID-19 and to determine, per the patients' point of view, the possible factors related to vaccination hesitation and/or refusal. A cross-sectional study carried out by the vaccination working group of the Moroccan Society of Rheumatology, including patients with CIRD in Morocco. Information about vaccination coverage and reasons for non-vaccination against influenza, pneumococcal infection, and COVID-19 was collected. This survey included 230 patients (mean age of 46.9 +/-13.89 years; 68.7% females) affected by CIRD (rheumatoid arthritis 53%, spondyloarthritis 39.6%, psoriatic arthritis 7%). The study shows a significant lack of influenza and pneumococcal vaccination in CIRD patients, with vaccination coverage against influenza, pneumococcal infection, and COVID-19 at 2.2%, 0.4%, and 80.9%, respectively. The main reason for non-vaccination against influenza and pneumococcus was related to the absence of recommendations by their doctors (77%, 87%, p = 0.04). Additionally, the primary reason for non-vaccination against COVID-19 was the fear of the vaccine's side effects (51%, p = 0.0001), mainly a flare-up of CIRD (44%, p = 0.001). This survey shows a lack of influenza, pneumococcal, and COVID-19 vaccination in CIRD patients. The principal actions to improve vaccination should aim to educate patients and encourage rheumatologists to vaccinate their patients.

Effect of SGLT2 inhibitors in the management of moroccan patients with heart failure with reduced ejection fraction

Effect of SGLT2 inhibitors in the management of moroccan patients with heart failure with reduced ejection fraction

Clinical Exome Sequencing Reveals Novel Mutations in SPTB Gene Associated with Hereditary Spherocytosis in Patients with Suspected Congenital Hemolytic Anemia

Congenital hemolytic anemia (CHA) is defined as the premature destruction of red blood cells (RBC) due to congenital or acquired defects. The hereditary form of hemolytic anemia can be divided into hemoglobinopathies, membranopathies, and enzymopathies. Hereditary spherocytosis (HS) is the most common inherited RBC membranopathy leading to congenital hemolytic anemia. To date; five genes have been associated with HS coding for cytoskeleton and transmembrane proteins, those genes are SPTB, SLC4A1, EPB42, ANK1, and SPTA1. Due to genetic heterogeneity, clinical exome sequencing (CES) was performed on four unrelated Moroccan patients referred for CHA investigation. Sanger sequencing and qPCR were performed to confirm CES results and to study the de novo character of identified variants. The molecular analysis revealed 3 novel mutations and one previously reported pathogenic variant of the SPTB gene confirming the diagnosis of HS in the four patients. Hereditary spherocytosis anemia is a genetically heterogenous disease which could be misdiagnosed clinically. The introduction of novel sequencing technologies can facilitate accurate genetic diagnosis, allowing an adapted care of the patient and his family.

High expression of BTN3A1 is associated with clinical and immunological characteristics and predicts a poor prognosis in advanced human gliomas.

Gliomas represent the most prevalent and aggressive tumors within the central nervous system. Despite the current standard treatments, the median survival time for glioblastoma patients remains dismal, hovering around 14 months. While attempts have been made to inhibit the PD-1/PD-L1 and CTLA-4/CD80-CD86 axes through immunotherapy, the outcomes have yet to demonstrate significant efficacy. The immune checkpoint Butyrophilin 3A1 (BTN3A1) can either be involved in advantageous or detrimental function depending on the cancer type. In our study, we utilized a Moroccan cohort to delve into the role of BTN3A1 in gliomas. A transcriptomic analysis was conducted on 34 patients, which was then corroborated through a protein analysis in 27 patients and validated using the TCGA database (n = 667). Our results revealed an elevated expression of BTN3A1 in glioblastoma (grade 4), as evidenced in both the TCGA database and our cohort of Moroccan glioma patients. Within the TCGA cohort, BTN3A1 expression was notably higher in patients with wild-type IDH. We observed a positive correlation between BTN3A1 expression and immune infiltration of B cells, CD8+ T cells, naive CD4+ T cells, and M2 macrophages. Patients exhibiting increased BTN3A1 expression also presented elevated levels of TGF-β, IL-10, and TIM-3 compared to those with reduced BTN3A1 expression. Notably, patients with high BTN3A1 expression were associated with a poorer prognosis than their counterparts with lower expression. Our findings suggest that BTN3A1 might promote the establishment of an immunosuppressive microenvironment. Consequently, targeting BTN3A1 could offer novel therapeutic avenues for the management of advanced gliomas.

#228 APOL1 variants and chronic kidney disease in Morocco: case control study

Abstract Background and Aims APOL1 genetic variants account for much of the excess risk of chronic and end stage kidney disease, which results in a significant global health disparity for persons of African ancestry. We estimate the lifetime risk of kidney disease in APOL1 dual-risk allele individuals to be at least 15%. These genetic variants were never tested in north African patients and this is the first study aimed to search the existence of this variants in general Moroccan people and patients with chronic kidney disease. Method This is a case control multi center study including Moroccan adult with GFR less than 60 ml per min secondary to unknown etiology or nephroangiosclerosis. Patients with known nephropathy or diabetes were excluded. Between July 2014 and June 2017, patients and 100 controls were enrolled for testing APOL1 variants. ADN extraction was done by isolate II Blood DNA kit and nucleic acid concentration by spectrophotometry. The allele frequency was calculated by PCR TaqMan. Results During the inclusion period 117 patients with chronic kidney disease from unknown etiology and 8 patients with nephroangiosclerosis were included from all the twelve Moroccan regions. There mean age was 49 years and more than 60% were males. The age of end stage renal disease was 42 years. Testing APOL1 variants did not find G1 or G2 classic mutations but we find a G2 deletion and a new mutation GAT to AAT in two patients. We find also a silent mutation AGA to AGG that we are exploring in a family investigation. Conclusion APOL1 genetic variants as described in the literature are not significantly present in Moroccan patient with chronic kidney disease and cannot be yet used as a risk factor in our context. However we find a new mutation needing a wide exploration in a bigger cohort

#3132 The effect of the number of transfusions received and hemodialysis centers attended on the prevalence of hepatitis B and C in hemodialysis patients

Abstract Background and Aims Hepatitis B (HBV) and hepatitis C (HCV) viral infections significantly contribute to morbidity and mortality among hemodialysis patients, posing substantial challenges in the management of these individuals. These infections present a critical global public health concern. This study aims to describe the serological profile of hepatitis B and C among hemodialysis patients at the Military Hospital of Instruction Mohamed V in Rabat. Additionally, the research aims to investigate the associated risk factors, including the potential influence of blood transfusion and frequenting multiple hemodialysis centers as risk factors. Method We conducted a cross-sectional study involving 38 hemodialysis patients during the period from January 2022 to September 2022. Hepatitis B and C serological markers were analyzed using a chemiluminescent assay, while genome detection was carried out using a quantitative real-time PCR test. Results A total of 36 hemodialysis patients participated in the study, with 44.7% being male and 55.3% female. The age range varied from 26 to 82 years, with a median hemodialysis duration of 102 months. On average, patients attended 1.89 +/- 1.24 dialysis centers (minimum: 1, maximum: 5). Of the participants, 39.5% had a history of blood transfusion, and 13.2% were immunodeficients. Approximately 63.2% of the patients tested positive for Hbs antibodies; however, only 42.1% demonstrated immunity to hepatitis B with antibody levels exceeding 100 UI/L. Among these patients, 31.6% had a history of vaccination, while 31.6% had previously contracted the disease. Notably, PCR results for HBV were negative in all patients. HCV antibodies were positive in 5.3% of the participants, with no viral RNA detected. Our study did not find any statistically significant risk factors. We found no association between the prevalence of hepatitis B or C and a history of transfusion or the number of hemodialysis centers attended. Conclusion Our results affirm the decreasing prevalence of hepatitis B and C infections among Moroccan hemodialysis patients, attributable to the implementation of anti-HBV vaccination and other protective measures. However, the limited number of patients in our study renders the sample non-representative.