Sphingolipidoses in Morocco: Chemical profiling for an affordable and rapid diagnosis strategy.

Sphingolipidoses are a group of metabolic diseases in which lysosomal hydrolases dysfunction disrupt normal sphingolipids' metabolism, leading to excess accumulation in cellular compartments and excretion in urine. These pathologies represent a significant burden among Moroccan population, for which an easy access to enzymatic assays and genetic tests is not guaranteed. Parallel analytical methods thus have to be developed for preliminary screening. In this study, 107 patients were addressed to the metabolic platform of the Marrakesh Faculty of Medicine for diagnosis confirmation. Thin-Layer Chromatography was used as a first step to perform chemical profiling of the patients' urinary lipids, allowing 36% of the patients to be efficiently oriented towards the adequate enzymatic assay. UPLC-MS/MS analyses of urinary sulfatides excreted in urines patient had been used to control the reliability of TLC analysis and to obtain more accurate information related to the sulfatides isoforms. This analytical process combining TLC with UPLC-MS/MS has enabled rapid and appropriate patient management in a reduced time and with reduced resources.

Ultrasonographic measurement of carotid artery resistive index and diastolic function of the heart in gout patients.

The aim of the study was to establish the functional disorder in the blood circulation of gout patients with a method that shows early damage of the heart and vascular structures. A total of 117 patients were examined cross-sectionally by a complex multimodal ultrasonography and were divided into four groups: 37 healthy controls, 24 asymptomatic hyperuricemia, 36 gout without tophi and 20 gouty tophi. With pulsed Doppler, common carotid artery resistive index (CCARI) and parameters of the transmitral blood flow were determined: the ratio between maximal early and late flow velocities (E/A ratio) and deceleration time (DT). With tissue Doppler imaging, mitral annular peak velocity (Em) was obtained. In the examined ultrasonographic parameters between healthy controls and the three patient groups, there was a statistically significant difference (p < 0.001). Comparing asymptomatic hyperuricemia and gout without tophi, no significant difference in CCARI (p = 0.656), E/A ratio (p = 0.472), DT (p = 0.990) and Em (p = 0.488) was found. Gouty tophi in comparison with gout without tophi and asymptomatic hyperuricemia had significantly lower Em (mean ± SD 0.07 ± 0.02 vs 0.09 ± 0.03 vs 0.13 ± 0.17) and significantly higher CCARI (mean ± SD 0.74 ± 0.05 vs 0.70 ± 0.05 vs 0.69 ± 0.05). Further multiple logistic regression revealed that tophi increased subject's likelihood of having category of CCARI ≥ 0.7 with an OR = 10.91 (95 % CI 1.80-66.14, p = 0.009), while the category of Em < 0.08 m/s was influenced by renal insufficiency with an OR = 3.07 (95 % CI 1.17-8.02, p = 0.022). Gouty tophi are associated with progression of arteriosclerotic-type vessel changes. Worsening of diastolic dysfunction of the heart is independently associated with renal insufficiency. In terms of CV risk, tophi are an indicator of its increase.

First report on the Moroccan registry of primary immunodeficiencies: 15 years of experience (1998-2012).

PURPOSE: Primary immunodeficiencies (PIDs) are a large group of diseases characterized by susceptibility to infections. We provide the first comprehensive report on PIDs in Morocco, the epidemiological, clinical, etiological and outcome features which have never before been described. METHODS: A national registry was established in 2008, grouping together data for PID patients diagnosed since 1998. RESULTS: In total, 421 patients were diagnosed between 1998 and 2012. Parental consanguinity was common (recorded for 43.2 % of patients) and the median time to diagnosis was 2.0 years. Overall, 27.4 % of patients were considered to have well defined syndromes with immunodeficiency (48 cases of hyper-IgE syndrome and 40 of ataxia-telangiectasia); 22.7 % had predominantly antibody deficiencies (29 cases of agammaglobulinemia and 24 of CVID); 20.6 % had combined immunodeficiencies (37 cases of SCID and 26 of MHC II deficiencies) and 17.5 % had phagocyte disorders (14 cases of SCN and 10 of CGD). The principal clinical signs were lower respiratory tract infections (60.8 %), skin infections (33.5 %) and candidiasis (26.1 %). Mortality reached 28.8 %, and only ten patients underwent bone marrow transplantation. We analyzed the impact on mortality of residence, family history, parental consanguinity, date of diagnosis and time to diagnosis, but only date of diagnosis had a significant effect. CONCLUSIONS: The observed prevalence of PID was 0.81/100,000 inhabitants, suggesting considerable underdiagnosis and a need to increase awareness of these conditions in Morocco. The distribution of PIDs was different from that reported in Western countries, with a particularly high proportion of SCID, MHC II deficiencies, hyper-IgE syndrome and autosomal recessive agammaglobulinemia. However, we have now organized a national network, which should improve diagnosis rates in remote regions.

[Prevalence, knowledge and control of arterial hypertension in vulnerable neighborhoods of Argentina: A Cross-sectional Study]. / Estudio de prevalencia, conocimiento y control de la hipertensión arterial en barrios vulnerables de Argentina.

INTRODUCTION: Hypertension (HTN) represents the primary individual risk factor, contributing significantly to the global burden of cardiovascular diseases (CVD). In our country, epidemiological research has highlighted substantial variations in the prevalence of these risk factors across different populations. However, there is a lack of epidemiological studies assessing exclusive cardiovascular risk factors within vulnerable neighborhoods characterized by extremely limited economic resources, sociocultural challenges, and inadequate healthcare access. METHODS: A multicenter cross-sectional observational study was conducted among individuals residing in economically deprived and marginalized communities, including informal settlements and underprivileged neighborhoods. Simple random sampling of households was employed. Blood pressure measurements, anthropometric assessments, and epidemiological, economic, and sociocultural questionnaires were administered. Results encompass prevalence rates, awareness levels, and blood pressure control across diverse regions. Logistic regression was utilized to identify independent variables influencing primary outcomes. RESULTS: A total of 989 participants were analyzed. The overall prevalence of hypertension was 48.2%. About 82% had a body mass index (BMI) >25. Approximately 45.3% had less than 6 years of formal education. Independent association was established between education levels below 6 years and higher hypertension prevalence. Among hypertensive individuals, 44% were unaware of their condition, with only 17.2% achieving control, correlated with having health insurance and a higher educational background. Merely 24% were receiving combined therapy. CONCLUSION: The prevalence of hypertension within vulnerable neighborhoods is alarmingly high, surpassing rates in other social strata. Knowledge, treatment, and control levels of hypertension are suboptimal, comparable to other populations. Inadequate use of combination therapy was observed. This study underscores the urgent need for targeted interventions addressing cardiovascular risk factors in poor areas to mitigate the burden of CVD.

Late Treatment and Recurrence of Kawasaki Disease in a Moroccan Infant.

INTRODUCTION: While the diagnosis of typical form of Kawasaki disease (KD) is obvious, this multifaceted disease continues to surprise us. We report the case of a recurrent Kawasaki disease in an infant. CASE: At the age of 13 months, the infant was diagnosed with complete Kawasaki disease; he presented with prolonged fever, bilateral conjunctivitis, enanthem, exanthema, edema of the lower limb, peeling, and biological inflammatory syndrome. He was treated with intravenous immunoglobulin (IVIG) associated with a high dose of aspirin and then an antiplatelet dose with a good clinical-biological evolution. The echocardiography was normal. Seven months later, the patient was again admitted, in a similar picture: a prolonged fever evolving for 7 days, bilateral conjunctivitis, enanthem, cervical adenopathy of 1.5 cm/1 cm, scarlatiniform erythema, pruriginous of the trunk and limb, and peeling of the toes, with indurated edema of the hands and feet. The rest of the examination was normal except the irritability. The diagnosis of recurrent KD was made according the five criteria of the American Heart Association. The echocardiography was normal again. The infant received IVIG with good outcome. CONCLUSION: Despite its rarity, the possibility of recurrence of KD should be known by clinicians, so as not to delay the specific management of vasculitis whose stakes in terms of prevention of coronary artery lesions are well known. Our case confirms the possibility of this recurrence.

[Orbital and periorbital cellulitis in children. Epidemiological, clinical, therapeutic aspects and course]. / Cellulites orbitaires et péri-orbitaires de l'enfant. Profil épidémiologique, clinique, thérapeutique et évolutif.

Orbital cellulitis in children is a rare but potentially serious condition. The goal of this study is to analyze the epidemiological, clinical, therapeutic aspects and typical course of orbital and periorbital cellulitis in children, so as to propose a clinical management protocol adapted to our context. During the retrospective study period (2008-2014), 28 cases were hospitalized in the pediatric department at the Mohammed VI university medical center in Marrakech. Eighty-five percent of the cases were diagnosed as preseptal cellulitis, and 15% as retroseptal cellulitis. The age of the patients ranged from 6 months to 14 years with a mean age of 3 years. We report a female predominance with a prevalence of 58%. In our study, the most common cause is extension of infection from sinusitis. Clinically, fever was present in 19 patients (68%), eyelid edema was universal, proptosis and chemosis were noted in 2 cases, and ptosis in one patient. Bacteriological testing identified micro-organisms in 6 cases. Orbital computed tomography performed in 57% of the cases showed preseptal cellulitis in 12 cases, orbital cellulitis in one case, a subperiosteal abscess in 2 cases, and orbital abscess in one case. Medical treatment was based on amoxicillin-clavulanic acid or the combination of ceftriaxone, metronidazole±aminoglycoside. However, surgical drainage was necessary in 1 case. The outcome of all cases was favorable. Orbital cellulitis in children is usually preseptal, and amoxicillin-clavulanic acid is considered to be the standard empiric treatment.

[Acute disseminated encephalomyelitis after rabies vaccination: a case report]. / Encéphalomyélite aiguë disséminée post-vaccination antirabique: à propos d'un cas.

Acute disseminated encephalomyelitis (ADEM) is an inflammatory demyelinating disease of the central nervous system. It is a disease whose incidence is not precisely known. The presumed mechanism is demyelination of the immune-mediated central nervous system. There is no pathognomonic clinical presentation in ADEM. The combination of multifocal neurological disorders arising in the aftermath of an infection or vaccination should alert the clinician. We report a case of ADEM in an 8-year-old child occurring after antirabies vaccination. The diagnosis was made by nuclear magnetic resonance imaging (bilateral and multifocal lesions in the subcortical occipitoparietal and frontal left anterior white matter with involvement of U fibers) and a history of antirabies vaccination. The clinical course was marked by the appearance of motor and visual effects.

[Multiple pulmonary emboli complicating infective endocarditis in a child with congenital heart disease]. / Embolies pulmonaires multiples compliquant une endocardite infectieuse sur cardiopathie congénitale.

Pulmonary embolism in children is a rare condition, associated with high mortality. Clinical presentation is nonspecific. Pulmonary embolism may present initially similar to bacterial endocarditis of the right heart, septic thrombophlebitis, or osteomyelitis. We report the case of a 6-year-old girl who had dyspnea over the four months before consultation, complicated three months later by hemoptysis. She was diagnosed with subacute bacterial endocarditis secondary to group D Streptococcus, developed upon a ventricular septal defect. Two weeks later, the child had sudden chest pain and tachypnea. Lung scintigraphy showed multiple pulmonary embolisms. The therapeutic approach was to continue antibiotics without anticoagulant treatment. The outcome was favorable with apyrexia and stabilization on the respiratory level. Pulmonary embolism is a rare disease in children with an incidence of 3.7%. Classically, it presents with fever, hemoptysis, and nonspecific infiltrates on chest X-ray. These signs were noted in our patient, although the infiltrates on the chest X-ray were hidden by the pulmonary edema associated with heart failure. The persistence of these left basal opacities after antidiuretic treatment suggested an infectious origin. Subsequently, lung scintigraphy showed that it was a pulmonary infarct. The therapy of septic pulmonary embolism is the same as that for infective endocarditis. Antibiotic treatment alone was maintained without anticoagulants because of the high risk of bleeding at the seat of the pulmonary embolism and the insubstantial significant benefit of this therapy. Pulmonary embolism in children is a rare disease, but its incidence is underestimated. Better knowledge on its actual impact and etiologies in children is necessary. Multicenter studies are needed to establish recommendations.

Molecular defects in Moroccan patients with ataxia-telangiectasia.

Ataxia-telangiectasia (AT) is a rare autosomal recessive disease, affecting neurologic and immune system. Numerous mutations are described in the ATM gene in several populations. However, in Morocco, few data are available concerning this condition. Our main goal is to determine clinical, immunological, and molecular presentation of Moroccan patients with AT. We screened 27 patients, out of 22 unrelated families, for ATM gene mutations. All our patients showed ataxia, ocular telangiectasia, and immunodeficiency, as well as elevated serum alphafetoprotein levels. Mean age at diagnosis was 5.51 years, and consanguinity rate was 81.8 %. Mean age at onset was 2.02 years, and mean time to diagnosis was 3.68 years. We found 14 different mutations in 19 unrelated families, of which 7 were not reported. Our results showed that c.5644C>T mutation was the most common in our series. However, further studies are required to demonstrate a founder effects on ATM gene in Moroccan patients, who showed mutational heterogeneity otherwise. Our data indicate that direct sequencing of coding exons is sufficient for a high detection rate in ATM in Moroccan population.

[Moyamoya disease in children: a case report]. / Maladie de Moyamoya : à propos d'un cas pédiatrique.

Moyamoya is an angiogenic disorder and a rare cause of stroke. It is a progressive narrowing of cerebral arteries at the base of the brain involving the intracerebral portion of the internal carotid arteries, where it leads to development of collateral arteries, causing a "cigarette smoke" aspect. Ischemic events are more frequent in pediatric pathology, where hemorrhagic manifestations account for only 10%. The prognosis is severe, even worse than when onset of symptoms is earlier. We present the case of an 8-year-old child, who had presented recurrent hemiparesis since the age of 3 years; the brain CT scan and magnetic resonance imaging objectified injury sequelae. The MRA revealed stenosis of the internal carotid artery consistent with Moyamoya. In conclusion, the diagnosis of Moyamoya disease is now accessible to modern brain imaging techniques (MRI and MRA), easily achievable in children. The natural course of the disease involves the neurological and vital prognosis in young children, due to repeated ischemic attacks. Their identification would facilitate early diagnosis in order to treat neurosurgically, leading to a better neurological and cognitive prognosis.