Effect of diabetes self-management education on health-related quality of life of Tunisian children with type1 diabetes mellitus and their parents: A randomized controlled trial.

Aim: To assess the effect of diabetes self-management education (DSME) on health related quality of life (HRQoL) of Tunisian children/adolescents with type 1 diabetes mellitus and their parents.

Methods: This monocentral study used a randomized controlled trial design, during five-month intervention and five-month follow-up and including 110 patients (54 in the DSME intervention group and 56 in the Individual Education by Pediatrician (IEP) control group) and their parents. Pediatric Generic Core Quality-of-Life Inventory 4.

Cribriform plate dehiscence with encephalomeningocele revealed by recurrent meningitis: A case report.

Introduction: Meningitis is a potentially life threatening illness. It requires prompt diagnosis and treatment. Recurrent meningitis needs detailed investigations to identify the underlying cause.

Disseminated BCG infection revealing a severe combined immunodeficiency: A case report.

Introduction: Bacillus Calmette Guerin (BCG) vaccine, which is administered to all newborns in Tunisia, can lead to serious complications ranging from local disease to disseminated disease in a group of patients with primary immunodeficiency diseases.

Case Report: A 3-month-old boy presented with persistent fever, hepato-splenomegaly and multiple osteolytic lesions. He was diagnosed with severe combined immunodeficiency disease and disseminated BCG infection.

Bilateral pheochromocytoma revealed by acute abdominal pain in a child. A case report.

Pheochromocytoma is a rare tumor during childhood, originating from the chromafine tissue. The clinical presentation can be variable and assembling many other diseases. This tumor submits specific care problems.

Assessing the impact of a family empowerment program on asthma control and medication use in children with asthma: A randomized controlled trial.

Purpose: In pediatric asthma, family empowerment education has been beneficial for the quality of life, pulmonary function, and family functioning. Few studies addressed the impact of a family empowerment program on asthma symptom control, acute healthcare use (AHCU), and medication use in children with asthma. This study aimed to assess the effect of a family empowerment intervention on asthma symptom control, AHCU, inhaler technique, and controller adherence in children with asthma.

Preliminary national report on cystic fibrosis epidemiology in Tunisia: the actual state of affairs.

Aim: To establish a preliminary national report on clinical and genetic features of cystic fibrosis (CF) in Tunisian children as a first measure for a better health care organization.

Methods: All children with CF diagnosed by positive sweat tests between 1996 and 2015 in children's departments of Tunisian university hospitals were included. Data was recorded at diagnosis and during the follow-up from patients' medical records.

Quality of Life Determinants in Children and Adolescents with Mild to Moderate Asthma in Tunisia.

Chronic childhood asthma is a leading cause of poor quality of life. Factors associated with this major asthma outcome were controversial. The aim of this study is to assess the quality of life of children and adolescents with mild to moderate asthma and to determine the factors associated with quality of life impairment in this population.

Effect of Family Empowerment Education on Pulmonary Function and Quality of Life of Children With Asthma and Their Parents in Tunisia: A Randomized Controlled Trial.

Purpose: Patient education is fundamental in asthma management, especially at pediatric age. It is increasingly recognized as effective in reducing the burden of the disease, but is less clear in improving the quality of life of children with asthma and their parents. This study assessed the effect of an asthma therapeutic education program on pulmonary function and quality of life in children with asthma and their parents.

Factors Associated with Acute Health Care Use in Children and Adolescents with Asthma.

Asthma is a leading cause of acute health care use (AHCU) as defined by hospitalization and emergency department visits (ED). Little was known about factors associated with asthma-related AHCU. This study aimed to identify factors determining AHCU in children and adolescents with asthma.

A novel variant in a Tunisian patient with primary ciliary dyskinesia.

Primary ciliary dyskinesia (PCD) is a genetically heterogeneous hereditary disease caused by the structural abnormalities and dysfunction of motile cilia. The is the most frequently mutated gene in PCD patients and hot spot exons were reported in this gene. Here, we aim to screen mutations in a set of five hot spot exons of gene in a cohort of 10 clinically diagnosed Tunisian PCD patients using an optimized polymerase chain reaction-single-strand conformational polymorphism screening technique.

Primary ciliary dyskinesia gene contribution in Tunisia: Identification of a major Mediterranean allele.

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.

Does Ramadan Fasting Affect Spirometric Data of Healthy Adolescents?

Purpose: Several studies raised the effects of Ramadan fasting on healthy adults spirometric data, but none was performed in children. The aim of this study was to compare the spirometric data of a group of faster adolescents (n = 26) with an age-matched non-faster one (n = 10).

Methods: This comparative quasi-experimental study, including 36 healthy males aged 12 to 15 years, was conducted during the summer 2015 (Ramadan: June 18 to July 16).

Temporal and climate characteristics of respiratory syncytial virus bronchiolitis in neonates and children in Sousse, Tunisia, during a 13-year surveillance.

This study established the correlation between respiratory syncytial virus (RSV) bronchiolitis and climate factors in the area of Sousse, Tunisia, during 13 years (2003-2015), from neonates and children <= 5 years old and hospitalized in Farhat Hached University-Hospital of Sousse. The meteorological data of Sousse including temperature, rainfall, and humidity were obtained. RSV detection was carried out with the direct immunofluorescence assay.

Clinical, Molecular, and Computational Analysis in two cases with mitochondrial encephalomyopathy associated with SUCLG1 mutation in a consanguineous family.

Deficiency of the mitochondrial enzyme succinyl COA ligase (SUCL) is associated with encephalomyopathic mtDNA depletion syndrome and methylmalonic aciduria. This disorder is caused by mutations in both SUCL subunits genes: SUCLG1 (α subnit) and SUCLA2 (β subnit). We report here, two Tunisian patients belonging to a consanguineous family with mitochondrial encephalomyopathy, hearing loss, lactic acidosis, hypotonia, psychomotor retardation and methylmalonic aciduria.

Epidemiology and clinical profile of pathogens responsible for the hospitalization of children in Sousse area, Tunisia.

This study aimed to identify a broad spectrum of respiratory pathogens from hospitalized and not-preselected children with acute respiratory tract infections in the Farhat Hached University-hospital of Sousse, Tunisia. Between September 2013 and December 2014, samples from 372 children aged between 1 month and 5 years were collected, and tested using multiplex real-time RT-PCR by a commercial assay for 21 respiratory pathogens. In addition, samples were screened for the presence of Streptococcus pneumoniae 16S rDNA using real-time PCR.

Report of the Tunisian Registry of Primary Immunodeficiencies: 25-Years of Experience (1988-2012).

Purpose: Primary immunodeficiencies (PIDs) are a large group of diseases characterized by susceptibility to not only recurrent infections but also autoimmune diseases and malignancies. The aim of this study was to describe and analyze the distribution, clinical features and eventual outcome of PID among Tunisian patients.

Methods: We reviewed the record of 710 patients diagnosed with Primary Immunodeficiency Diseases (PIDs) from the registry of the Tunisian Referral Centre for PIDs over a 25-year period.

Whole mitochondrial genome analysis in two families with dilated mitochondrial cardiomyopathy: detection of mutations in MT-ND2 and MT-TL1 genes.

Pathogenic mitochondrial DNA (mtDNA) mutations leading to mitochondrial dysfunction can cause cardiomyopathy and heart failure. These mutations were described in the mt-tRNA genes and in the mitochondrial protein-coding genes. The aim of this study was to identify the genetic defect in two patients belonging to two families with cardiac dysfunction associated to a wide spectrum of clinical phenotypes.

Multiplex Minisequencing of the HBB Gene: A Rapid Strategy to Confirm the Most Frequent β-Thalassemia Mutations in the Tunisian Population.

The β hemoglobinopathies [β-thalassemia (β-thal) and structural hemoglobin (Hb) variants such as Hb S (HBB: c.20A > T) and Hb E (HBB: c.79G > A)] are among the most common inherited diseases worldwide.

A 1,100-year-old founder effect mutation in IL12B gene is responsible for Mendelian susceptibility to mycobacterial disease in Tunisian patients.

Mendelian susceptibility to mycobacterial disease (MSMD) is a rare disorder predisposing apparently healthy individuals to infections caused by weakly virulent mycobacteria such as bacille Calmette-Guerin (BCG), environmental mycobacteria, and poorly virulent Salmonella strains. IL-12p40 deficiency is the first reported human disease due to a cytokine gene defect and is one of the deficiencies that cause MSMD. Nine mutant alleles only have been identified in the IL12B gene, and three of them are recurrent mutations due to a founder effect in specific populations.

Giant cell hepatitis with autoimmune hemolytic anemia in a nine month old infant.

Giant cell hepatitis (GCH) with autoimmune hemolytic anemia is a rare entity, limited to young children, with an unknown pathogenesis. We report the case of 9-mo old who presented with fever, diarrhea and jaundice four days before hospitalization. Physical examination found pallor, jaundice and hepatosplenomegaly.

Inherited IL-12p40 deficiency: genetic, immunologic, and clinical features of 49 patients from 30 kindreds.

Autosomal recessive interleukin (IL)-12 p40 (IL-12p40) deficiency is a rare genetic etiology of mendelian susceptibility to mycobacterial disease (MSMD). We report the genetic, immunologic, and clinical features of 49 patients from 30 kindreds originating from 5 countries (India, Iran, Pakistan, Saudi Arabia, and Tunisia). There are only 9 different mutant alleles of the IL12B gene: 2 small insertions, 3 small deletions, 2 splice site mutations, and 1 large deletion, each causing a frameshift and leading to a premature stop codon, and 1 nonsense mutation.