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X-Linked Agammagobulinemia in a Large Series of North African Patients: Frequency, Clinical Features and Novel BTK Mutations.

PURPOSE: X-linked agammagobulinemia (XLA) is a primary immunodeficiency caused by Bruton's tyrosine kinase (BTK) gene defect. XLA patients have absent or reduced number of peripheral B cells and a profound deficiency in all immunoglobulin isotypes. This multicenter study reports the clinical, immunological and molecular features of Bruton's disease in 40 North African male patients. METHODS: Fifty male out of 63 (male and female) patients diagnosed with serum agammaglobulinemia and non detectable to less than 2% peripheral B cells were enrolled. The search for BTK gene mutations was performed

[Schizotypal personality in academia].

INTRODUCTION: Schizotypal personality, otherwise known as "latent schizophrenia" is a personality disorder accepted in the spectrum of schiz … is a retrospective study concerning a sample of the first round students in two university sites in Morocco (the medical school in Marrakech and the College of Technology in Safi). The investigation began on October 2004 and was spread over a period of 6 months. The questionnaire was anonymous, divided into two parts; the first part concerning sociodemogr …

Spectrum of UGT1A1 mutations in Crigler-Najjar (CN) syndrome patients: identification of twelve novel alleles and genotype-phenotype correlation.

Crigler-Najjar syndrome types I and II (CN1 and CN2) are usually inherited as autosomal recessive conditions and are characterized by non-hemolytic unconjugated hyperbilirubinaemia. CN1 is the most severe form, associated with the absence of hepatic bilirubin-uridinediphosphoglucuronate glucuronosyltransferase (UGT1A1) activity. CN2 presents intermediate levels of hyperbilirubinaemia as a result of an incomplete deficiency of hepatic UGT1A1 activity. Here, we present the analysis of UGT1A1 gene in 31 unrelated Crigler-Najjar (CN) syndrome patients. This analysis allowed us to identify 22 mutat

High incidence of SMN1 gene deletion in Moroccan adult-onset spinal muscular atrophy patients.

Spinal muscular atrophy (SMA) is an autosomal recessive motor neuropathy characterized by selective degeneration of anterior horn cells of the spinal cord. Childhood SMA is divided into three types (I-III) on the basis of age of onset and severity. These disorders have been linked to the 5q13 region, where mutations in the Survival Motor Neuron 1 (SMN1) gene have been found in affected individuals. In the case of adult-onset SMA (type IV), on the other hand, reports of homozygous absence of SMN1 gene have been rare. We conducted deletion analysis of SMN and a neighboring gene, NAIP (neuronal a

Expanded programme on immunization (EPI). Immunization schedules in the WHO eastern Mediterranean region, 1995.

There are 23 countries/areas in this Region (Tables 1-3). BCG is used in all but 3 countries (Cyprus, Jordan and Lebanon). Most countries/ar … l dose of OPV at birth (Djibouti, Iran [Islamic Republic of], Iraq, Kuwait, Libyan Arab Jamahiriya, Morocco, Oman, Pakistan, Syrian Arab Republic, and UNRWA). An additional dose of OPV in the second year of life is used in 15 countries, and additional doses of OPV are recommended in some countries. In UNRWA, the first 2 doses of OPV 2 and 3 months of age …

Pediatric Acute Leukemias: Epidemiological, Clinical Features, and Diagnostic Contribution of Flow Cytometry in a Resource-Limited Setting.

INTRODUCTION: Acute leukemias are the most common hematologic malignancies in children, but detailed epidemiological and immunophenotypic data are limited in Morocco. A better characterization of these diseases is needed to optimize diagnostic strategies. OBJECTIVE: To describe the epidemiological, clinical, and biological features of pediatric acute leukemias and to evaluate the diagnostic contribution of flow cytometry in a Moroccan university hospital center, based on available diagnostic tools. METHODS: We conducted a retrospective, single-center study at the hematology laboratory of Ibn…

Very Early Discharge After Primary Percutaneous Coronary Intervention (PCI) in Low-Risk ST-Segment Elevation Myocardial Infarction (STEMI) Patients: Safety and Feasibility From a Prospective Randomized Study.

BACKGROUND: Contemporary management of ST-segment elevation myocardial infarction (STEMI) has markedly evolved with the widespread adoption … -center study between June 2024 and June 2025 at Mohammed VI University Hospital Center, Marrakech, Morocco. During the study period, 544 consecutive patients were admitted for STEMI. Among them, 179 fulfilled predefined low-risk criteria, including preserved left ventricular ejection fraction (>50%), successful radial-access PCI with final thrombolysis i …

Significant association between ERCC2 and MTHR polymorphisms and breast cancer susceptibility in Moroccan population: genotype and haplotype analysis in a case-control study.

BACKGROUND: Genetic determinants of breast cancer (BC) remained largely unknown in the majority of Moroccan patients. The purpose of this study was to explore the association of ERCC2 and MTHFR polymorphisms with genetic susceptibility to breast cancer in Moroccan population. METHODS: We genotyped ERCC2 polymorphisms (rs1799793 (G934A) and rs13181 (A2251C)) and MTHFR polymorphisms (rs1801133 (C677T) and rs1801131 (A1298C)) using TaqMan SNP Genotyping Assays. Genotypes were compared in 151 BC cases and 156 population-matched controls. Allelic, genotypic and haplotype associations with the risk

[Abdominal tuberculosis in a young immigrant patient: a clinical case].

In developing countries, tuberculosis (TBC) is commonly associated with inadequate socio-economic and sanitary conditions. Currently, in Western countries, TBC is often linked with HIV infection, an ageing population or trans-global migration. Approximately two out of ten TB cases worldwide are extra-pulmonary, of which abdominal tuberculosis accounts for 11%-16%. The Mycobacterium tuberculosis complex involves the abdomen as primary or secondary localization (hematogenous spread or from pulmonary foci or infected neighbouring organs). Abdominal TBC can infect the gastrointestinal tract, perit

Infectious diseases among food handlers.

trichiura was the most common infection in the studied group. Continuous follow up and health education of food handlers have led to avoidance of outbreaks of infections among food consumers in the hospital. This study was carried out to find the prevalence and associated factors of communicable diseases especially parasitic infections among food handlers in King Fahd Hospital, Jeddah, Saudi Arabia, for early detection and proper management. This study was conducted as a preemployment examination on 52 new kitchen male workers with a mean age of 26.77+/-5.03 years. They were subjected to compl

[Cutaneous complications following hematopoietic stem cell transplantation].

BACKGROUND: Hematopoietic stem cell allograft is a treatment for patients with severe constitutional or acquired hematopoietic system diseases. This act is always linked to complications requiring multidisciplinary care. Our study describes the post-allograft cutaneous complications. METHODS: A prospective study was conducted at the Hematology department of "20 Août Hospital" in Casablanca during a period going from January 2018 to December 2020; including all patients who presented acute or chronic cutaneous complications post-allograft. RESULTS: Twenty-five patients were included. All pati

Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19.

A subset of ciliopathies, including Sensenbrenner, Jeune, and short-rib polydactyly syndromes are characterized by skeletal anomalies accompanied by multiorgan defects such as chronic renal failure and retinitis pigmentosa. Through exome sequencing we identified compound heterozygous mutations in WDR19 in a Norwegian family with Sensenbrenner syndrome. In a Dutch family with the clinically overlapping Jeune syndrome, a homozygous missense mutation in the same gene was found. Both families displayed a nephronophthisis-like nephropathy. Independently, we also identified compound heterozygous WDR

The 752delG26 mutation in the RFXANK gene associated with major histocompatibility complex class II deficiency: evidence for a founder effect in the Moroccan population.

Major histocompatibility complex class II plays a key role in the immune response, by presenting processed antigens to CD4+ lymphocytes. Major histocompatibility complex class II expression is controlled at the transcriptional level by at least four trans-acting genes: CIITA, RFXANK, RFX5 and RFXAP. Defects in these regulatory genes cause MHC class II immunodeficiency, which is frequent in North Africa. The aim of this study was to describe the immunological and molecular characteristics of ten unrelated Moroccan patients with MHC class II deficiency. Immunological examinations revealed a lack

Epidemiology of Bladder Cancer in the Arab World: 2019 Global Burden of Disease Data.

BackgroundUrinary bladder cancer (UBC) has unique epidemiology. It is well known that some Arab countries have higher incidence of UBC due to certain risk factors, including schistosomiasis and smoking.MethodsWe systematically reviewed the Global Burden of Disease study (GBD) database for the year 2019. We queried GBD study database using results tool for UBC in the 22 Arab countries and compared the age-standardized incidence rate (ASIR), death rate (ASDR), mortality-to-incidence ratio (MIR) and Disability-Adjusted Life Years (ASDALYs) in Arab countries with global values.ResultsThe Arab popu

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… They included the following countries: Jordan, Syria, Lebanon, Palestine, Saudi Arabia, Iraq, Kuwait, Qatar, Bahrain, United Arab Emirates (UAE), Oman, Yemen, Egypt, Sudan, Libya, Algeria, Tunisia, Morocco, Djibouti, Somalia, Mauritania, and Comoros. … It is noteworthy that the incidence rate of UBC in Egypt and Morocco declines in individuals 75-79 years old then continues to rise in older individuals. …

Prevalence of human papillomavirus genotype among Moroccan women during a local screening program.

INTRODUCTION: Many studies have indicated a causal relationship between genital human papillomavirus (HPV) infections and cervical cancer. This study aimed to determine the prevalence and genotypes of six high-risk oncogenic human papillomaviruses in cervical lesions from Moroccan women with normal and abnormal cytology. METHODOLOGY: The study included 938 women from the Children's and Mothers' Pathology Department of Ibn Sina Hospital, Rabat. Cytopathology examination was done by routine PAP smear testing. HPV DNA testing was conducted using DNA amplification by Polymerase Chain Reaction wit

Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome.

BACKGROUND: Leigh syndrome is an early onset, progressive, neurodegenerative disorder with developmental and motor skills regression. Characteristic magnetic resonance imaging abnormalities consist of focal bilateral lesions in the basal ganglia and/or the brainstem. The main cause is a deficiency in oxidative phosphorylation due to mutations in an mtDNA or nuclear oxidative phosphorylation gene. METHODS AND RESULTS: A consanguineous Moroccan family with Leigh syndrome comprise 11 children, three of which are affected. Marker analysis revealed a homozygous region of 11.5 Mb on chromosome 20,

HIV incidence and impact of interventions among female sex workers and their clients in the Middle East and north Africa: a modelling study.

BACKGROUND: The incidence of HIV infection among female sex workers and their clients in the Middle East and north Africa is not well known. … incidence in 2020 and the impact of interventions by 2030 (Algeria, Bahrain, Djibouti, Iran, Libya, Morocco, Pakistan, Somalia, South Sudan, Sudan, Tunisia, and Yemen). Model-input parameters were provided through a systematic review of HIV prevalence, sexual and injecting behaviours, and risk group size estimates of female sex workers and clients. Model …

MDR1 gene polymorphisms and acute myeloid leukemia AML susceptibility in A Moroccan adult population: A case-control study and meta-analysis.

INTRODUCTION: The multidrug resistance 1 (MDR1) gene plays an important function in carcinogens detoxification and drugs metabolism. Many authors reported that MDR1 gene influences individual susceptibility to cancers. We carried out the present case-control study to investigate the impact of MDR1 gene in the predisposition to acute myeloid leukemia (AML) in a sample of Moroccan population. In addition, we performed a meta-analysis study to discuss our results and to better highlight the influence of MDR1 gene on the susceptibility of AML. METHODS: The study included 187 AML patients and 206

Prevalence of HLA-B27 in Moroccan healthy subjects and patients with ankylosing spondylitis and mapping construction of several factors influencing AS diagnosis by using multiple correspondence analysis.

The aim of the present study was to determine the prevalence of human leukocyte antigen HLA-B27 in Moroccan healthy controls and in patients with ankylosing spondylitis (AS), and to analyze the correlation between HLA-B27 and AS in Moroccan patients. The prevalence of HLA-B27 was determined by evaluating the number of HLA-B27-positive samples in 128 healthy subjects and in 53 patients diagnosed with AS according to the ESSG and AMOR criteria. HLA-B27 was determined by the polymerase chain reaction using sequence-specific primers. Multivariate analysis of our data (HLA-B27, age, sex, and family