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Background: Systemic lupus erythematosus (SLE) is a chronic multisystem autoimmune disease of undetermined etiology. Cardiac involvement is common in SLE and constitutes one of the main causes of mortality. More recently, new ultrasound imaging techniques, such as transthoracic ultrasound (TTE) with strain evaluation, have appeared and seem promising for the detection of cardiac involvement. The objective of our work was to study the frequency and characteristics of ultrasound abnormalities found in lupus patients and to study the benefit of ultrasound with global longitudinal strain (GLS) for early management., Methods: It was an observational study of patients followed for SLE at the internal medicine and cardiology department of the HMPIT for 6 months (May-November 2023). The definition of cardiac involvement was by ultrasound. All patients benefited from TTE coupled with 2D-strain. We divided the workforce into two groups: the first group (patients with heart disease) and the second group (patients without heart disease)., Results: In a series of 40 lupus patients including 33 women and seven men, cardiac manifestations were reported in 60% of patients. In the first group, 29% had palpitations, 25% had chest pain, 67% had dyspnea, 37% had pericarditis, 8% had pulmonary arterial hypertension (PAH) and 12% had myocarditis. The comparative study showed that patients in the first group presented significantly more frequently with dyspnea ( p = 0.02), chest pain ( p = 0.03) and serositis ( p = 0.01) compared to those in the second group. The mean left ventricular ejection fraction (LVEF) did not show a significant difference between the two groups. On the other hand, the average Global Longitudinal Strain (GLS) was significantly altered in the first group ( p = 0.01). Furthermore, the frequency of pathological GLS was significantly higher in patients with lupus heart disease ( p < 0.01)., Conclusion: Cardiac involvement during SLE is a frequent and most often asymptomatic complication. A systematic search for this impairment using a high-performance echocardiography examination, namely the 2D GLS, is essential for early treatment., Competing Interests: Declaration of conflicting interestsThe author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Cow's milk proteins allergy (CMA) is an atypical immune system response to cow's milk and dairy products. It's one of the most common food allergies in children affecting 8% of the total pediatric population pediatric population. This comprehensive review examines recent studies in CMA, especially regarding mammalian milk allergies such as goat's, sheep's, buffalo's, camel's, mare's and donkey's milk allergies in order to increase awareness of these selective allergies and to reduce allergy risks for those who have them. The consumption of other mammalian milk types is not recommended because of the significant homology between milk proteins from cow, sheep, goat and buffalo resulting in clinical cross-reactivity. However, camel's, mare's or donkey's milk may be tolerated by some allergic patients. Selective mammalian milk allergies are unusual and rare disorders characterized by severe symptoms including angio-oedema, urticaria, respiratory manifestations and anaphylaxis. Based on the reported allergic cases, cheese products including Ricotta, Romano, Pecorino and Mozzarella, are considered as the most common source of allergens especially in goat's, sheep's and buffalo's milk allergies, while the major allergens in donkey's and mare's milk seems to be whey proteins including lysozyme, α-lactalbumin and β-lactogloblin due to the low casein/whey proteins ratio in equine's milk., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2023 Elsevier Ltd. All rights reserved.)

Aims: To study primary care physicians' attitudes toward childhood asthma management and their adherence to international guidelines., Methods: Cross-sectional, descriptive and analytical survey conducted among 400 primary care physicians practicing in the governorate of Sfax. Data collection was done through a self-administered questionnaire with 36 questions., Results: the participation rate was 53.75%. The average age was 49.72years and the sex ratio=1.52. 56.3% reported that they assisted in childhood asthma medical education between 2019 and 2020. Poor knowledge was found in 53.3% of practitioners. It concerns in 60.5% of cases the long-term asthma treatment. We found that 49.8% of doctors did not use the GINA guidelines in their daily practice. These guidelines were considered too complex by 45.8%. Oral salbutamol was prescribed by 10.2% of physicians in childhood asthma exacerbation and 64.2% antibiotics as therapy for childhood febrile asthma exacerbation. The practice of prescribing antihistamines as long-term therapy is still present in 28.8% of physicians. In front of exercise-induced asthma, sports exemptions were given by 33% of participants. Adherence to asthma guidelines was found in 34,41%. Physicians who are aged between 35 and 45years and who used GINA guidelines had better childhood asthma management score than other physicians., Conclusion: Despite guidelines, childhood asthma is still underdiagnosis and undertreated. Our study revealed difficulties faced by primary care physicians in the management of childhood asthma., (Copyright © 2022 SPLF. Published by Elsevier Masson SAS. All rights reserved.)

Background: Mutations in the ATP-binding cassette transporter A3 ( ABCA3 ) gene are one of the most common surfactant disorders leading to interstitial lung diseases (ILD). The clinical spectrum and severity of lung disease caused by ABCA3 deficiency due to missense variants is variable. Case Presentations: A novel ABCA3 c.3135G>C (p.Gln1045His) mutation was identified at the homozygous state in 3 subjects from 2 unrelated families: one 19-month-old boy with severe ILD and his homozygous pauci-symptomatic mother, and one 10-year-old girl with moderate late-onset ILD. Corticosteroid pulses associated with hydroxychloroquine were beneficial for both children. Conclusion: We illustrate here the huge intra- and interfamilial phenotypic variability associated with the same homozygous missense ABCA3 mutation, and the benefit of identifying the disease for treatment, follow-up, and appropriate genetic counseling.

Intimal hyperplasia, a vascular pathology characterized by vessel wall thickening, is implicated in vein graft failures. For efficient prevention, a biodegradable drug delivery system should be applied externally to the graft for an extended time. Finding a gel suitable for such a system is challenging. We have synthesized HA-Dopamine conjugates (HA-Dop) with several degrees of substitution (DS) and used two crosslinking methods: initiator-free crosslinking by basic pH shift or commonly used crosslinking by a strong oxidizer, sodium periodate. The rheological properties, bioadhesion to vascular tissue, cytocompatibility with fibroblasts have been compared for both methods. Our results suggest that initiator-free crosslinking provides HA-Dop gels with more adequate properties with regards to vascular application than crosslinking by strong oxidizer. We have also established the cytocompatibility of the initiator-free crosslinked HA-Dop gels and the cytotoxicity of dopamine-sodium periodate combinations. Furthermore, we have incorporated a drug with anti-restenotic effect in perivascular application, atorvastatin, into the gel, which showed adequate release profile for intimal hyperplasia prevention. The oxidizer-free formulation with improved bioadhesion holds promise as an efficient and safe drug delivery system for vascular applications.

Background: Asthma is the most common chronic disease in infants. In young children, asthma still raises many questions and many points are still being debated., Aim: The aim of this study is to identifies, in asthmatic children, factors predictors of severity and persistence of symptoms., Methods: A retrospective study of asthmatic infants<3 years enrolled in the pediatric department of Sfax over a period of 5 years (2007-2011). We were interested to social and environmental factors, the allergic background, clinical severity of the disease, results of allergic skin tests, treatment and respiratory outcome., Results: We collected 180 children with a sex ratio of 2.2. Family history of atopy and exposition to passive tobacco were noted in 45 % and 52% of cases respectively. The mean age of onset of wheezing was 6.6 months. Skin tests were positives in 32% of cases. At the time of diagnosis, asthma was classified intermittent (21%), mild to moderate (55.6%) and severe (22.2%).  Inhaled corticosteroids was initiated in 142 infants (78.8%). Skin tests performed in 84 patients, were positive in 32%. Factors associated with severe asthma were passive smoking, early age of onset, number of hospitalizations for exacerbation and existence of an aggravating factor. Factors predictors of persistence were an early age of onset, caesarean delivery, passive smoking and positive skin tests., Conclusion: Factors associated with persistence of asthma at the individual level remains uncertain. However, atopy and passive smoking are major indicators.

Introduction: Congenital lung malformations (CLM) include a complex range of developmental abnormalities. Currently, most are diagnosed prenatally or during early childhood., Objective: to investigate clinical and imaging findings of congenital lung malformations in children., Methods: Retrospective study of CLM diagnosed between 2000 and 2017 at the pediatric and neonatology department of Hedi Chaker Hospital. Analysis of clinical spectrum, diagnosis tools, and radiological appearances., Results: Twenty seven cases of CLM have been investigated: 8 congenital lobar emphysema, 8 congenital cystic adenomatoid malformation, 8 pulmonary sequestrations, 2 bronchogenic cysts, and 1 hybrid lesion. Five (18,5%) patients were diagnosed antenatally and 22 (81,4%) postnatally. Symptoms occurred at a mean age of 9 months: Respiratory distress (11 cases), wheezing (4 cases), and pneumonia (7 cases). Antenatal ultrasound features include echogenic masses within the chest (2cases), the presence of cysts (2cases), unilateral pleural effusion (1 case) and hydramnios (2cases). A computed tomography scan was performed in all patients with a radio-histological concordance of 96%.

Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disease of motile cilia. Even though PCD is widely studied, North-African patients have been rarely explored. In this study, we aim at confirming the clinical diagnosis and explore the genetic spectrum of PCD in a cohort of Tunisian patients. Forty clinically diagnosed patients with PCD belonging to 34 families were recruited from Tunisian pediatric departments. In each proband, targeted capture PCD panel sequencing of the 40 PCD genes was performed. PCD panel sequencing identified bi-allelic mutations in 82% of the families in eight PCD genes. Remarkably, 23.5% of patients carried the same c.2190del CCDC39 mutation. Single nucleotide polymorphism profiling in six unrelated patients carrying this mutation has revealed a founder effect in North-African patients. This mutation is estimated to date back at least 1,400-1,750 years ago. The identification of this major allele allowed us to suggest a cost-effective genetic diagnostic strategy in North-African patients with PCD., (© 2019 Wiley Periodicals, Inc.)

In adults, anti-neutrophil cytoplasmic antibodies (ANCA) are considered as serological markers of several diseases, especially vasculitis and glomerulonephritis. Since ANCA are rarely positive in children, few data about the clinical relevance of these auto-antibodies in pediatric population have been reported. Therefore, our study aims to describe the spectrum of disorders associated with positive ANCA in Tunisian children. This study had been carried out over a period of 12 years and a half. All patients under the age of 15 for whom ANCA screening was performed in our laboratory were included. Clinical data were collected retrospectively. Indirect immunofluorescence (IFI) technique for ANCA detection was performed using PNN smears fixed with ethanol, formalin and, if necessary, methanol. Positive results were tested using immunodot to characterize the antigenic targets (myeloperoxydase (MPO) and proteinase 3 (PR3)). Our results showed that 410/5,990 (6.8%) laboratory requests for ANCA screening were for children. Forty (9.7%) requests were positive (24 children). Clinical data were available for 19 patients only. Sex-ratio (F/M) was 1.25. The mean age was 9 years and a half (3-15 years). The most frequent IIF patterns were x-ANCA (n=12) and p-ANCA (n=7). In our patients, the most frequent conditions associated to ANCA were treatment with benzylthiouracil for hypothyroidism (n=6), inflammatory bowel disease (n=4) and hemolytic anemia (n=4). In conclusion, the positivity of ANCA in children seems to be a rare event. Associated conditions include clinical disorders specific to the pediatric population. Treatment with benzylthiouracil is an etiology to be taken into consideration.

Vitamin B12 deficiency may be responsible of serious hematologic and neurodevelopmental abnormalities. We report the case of an infant who was hospitalized because of recurrent infections, failure to thrive, hypotonia, and weakness. He was 8 months old and had been exclusively breastfed. Blood cell count showed pancytopenia with megaloblastic bone marrow. The serum IgG concentration was low. Vitamin B12 level was very low and associated with increased urinary methylmalonic acid. Cobalamin deficiency was caused by mother's unrecognized pernicious anemia. Vitamin B12 supply led to rapid clinical and hematologic improvement.

Background: Hereditary vitamin D-resistant rickets (HVDRR) is an autosomal recessive disorder characterized by the early onset of rickets and is caused by mutations in the vitamin D receptor (VDR) gene. Some HVDRR patients also have alopecia., Patients and Methods: We retrospectively studied the clinical features, laboratory findings, genetic defects, as well as responses to treatment in a series of children with HVDRR., Results: Eight patients from 7 families met the inclusion criteria. Alopecia was noted in 7 patients. Two different homozygous mutations in the VDR gene were identified in 6 patients: the p.K45E mutation located in the DNA-binding domain (5 patients with alopecia) and a novel p.T415R mutation located in the ligand-binding domain. A p.E143del CYP24A1 mutation, in the gene encoding the 25-hydroxyvitamin D3-24-hydroxylase, was identified in 2 brothers carrying the VDR gene mutation p.K45E. Six patients were treated with intermittent intravenous calcium treatment via the peripheral route with a clear improvement in 5 cases., Conclusion: To the best of our knowledge, this is the first major series reporting on HVDRR in Tunisia. The same mutation (p.K45E) was found in 5 apparently unrelated affected individuals. We have also extended the mutation spectrum by studying 1 novel VDR mutation., (© 2016 S. Karger AG, Basel.)

Pleural tuberculosis is the first or second most common form of extrapulmonary tuberculosis as well as the main cause of pleural effusion in many countries. It is rare in young infants and is more common in children over 10 years of age. We report the case of a 19-month-old girl admitted for prolonged fever with unilateral pleural effusion. The mother reported a history of lymph node tuberculosis 6 years previously. Intravenous antibiotics with cefotaxime and vancomycin were started. Thoracocentesis yielded a serosanguinous exudate fluid with a lymphocyte predominance. The tuberculin skin test and PCR GeneXpert(©) on pleural fluid were negative. The initial outcome was favorable, but the chest X-rays 10 days after discharge showed bilateral pleural effusion. Pleural biopsy was proposed but the culture of pleural fluid was positive for Mycobacterium tuberculosis. The child was put under standard treatment for tuberculosis. The outcome was favorable., (Copyright © 2016 Elsevier Masson SAS. All rights reserved.)

Background: Ataxia-telangiectasia (A-T) is a multisystem disorder characterized by progressive neurologic impairment, variable immunodeficiency, impaired organ maturation, X-ray hypersensitivity, oculocutaneous telangiectasia, and a predisposition to malignancy., Aim: We performed this study in order to describe clinical, immunological and molecular features of patients with AT followed in the south of Tunisia Methods: we performed a retrospective study (1996-2012) in the south of Tunisia about all cases of A-T in order to describe their clinical, immunological and molecular features., Results: 11 cases of AT were found. The mean age at onset of symptoms was 20 months with extremes varying from 3 months to 4 years. The median time to diagnosis was 3.6 years (range: 0-12 years).The main clinical feature of cerebellar syndrome, ataxia, was present at diagnosis in 8 patients and occurred at mean ages of 2.8 years. Ocular telangiectasia occurred at a mean age of 3.9 years (extremes: 3 months and 7 years). Recurrent sino-pulmonary infections that affected 7 children occurred at the mean age of 4.3 years. The most common humoral immune abnormality was serum IgA deficiency. Lymphopenia was found in 7 cases and lack of CD4 T in 6 cases. Cytogenetic analyses showed chromosomal instability in all children and a translocation (7-14) in two patients. A molecular diagnosis established in 6 patients from 4 families showed 5 different mutations of ATM gene. After an average decline of 5 years and 6 months, 7 patients died of severe pulmonary infection. Among them, 3 were ATM mutated., Conclusion: Morbidity and mortality among patients with A- T are associated with ATM genotype.

Glutathione synthetase deficiency (GSSD) is a rare disorder of glutathione metabolism with varying clinical severity. Patients may present with hemolytic anemia alone or together with acidosis and central nervous system impairment. Diagnosis is made by clinical presentation and detection of elevated concentrations of 5-oxoproline in urine and low glutathione synthetase activity in erythrocytes or cultured skin fibroblasts. The prognosis seems to depend on early diagnosis and treatment. We report a 4 months old Tunisian male infant who presented with severe metabolic acidosis with high anion gap and hemolytic anemia. High level of 5-oxoproline was detected in her urine and diagnosis of GSSD was made. Treatment consists of the correction of acidosis, blood transfusion, and supplementation with antioxidants. He died of severe metabolic acidosis and sepsis at the age of 15 months.