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1.
Hum Mutat ; 41(1): 115-121, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-31469207

RESUMO

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.


Assuntos
Dineínas/genética , Predisposição Genética para Doença , Síndrome de Kartagener/epidemiologia , Síndrome de Kartagener/genética , Mutação , Vigilância da População , Alelos , Substituição de Aminoácidos , Éxons , Feminino , Genótipo , Humanos , Síndrome de Kartagener/diagnóstico , Masculino , Tunísia/epidemiologia
2.
J Pediatr Nurs ; 54: e9-e16, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32616452

RESUMO

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. DESIGN AND METHODS: A monocentric randomized controlled trial conducted in Farhat Hached University Hospital of Sousse (Tunisia) from May 2018 to September 2019. Thirty-seven families in the experimental group and 39 families in the control group received allocated intervention at baseline. Thirty-four families in each group completed the study at the 12-month follow-up. RESULTS: The intervention significantly improved quality of life scores of children and their parents (all p < 0.05). Children in the experimental group had significantly better forced expiratory maneuver than children in the control group. Nonetheless, the FEV1/FVC ratio did not show any significant difference in the experimental and control group (p = 0.9; p = 0.14, respectively). CONCLUSIONS: This study demonstrated that a long-term family-based asthma education program resulted in better pulmonary function and QOL of children and parents enrolled in the intervention group, particularly children with non-allergic asthma. PRACTICE IMPLICATIONS: Family-based asthma education can reduce the burden of allergic and non-allergic asthma on children and their parents through improving their quality of life. Also, the pulmonary function of children with non-allergic asthma was improved due to My Asthma Therapeutic Education intervention.


Assuntos
Asma , Qualidade de Vida , Asma/terapia , Criança , Humanos , Pais , Tunísia
3.
Biochem Biophys Res Commun ; 495(2): 1730-1737, 2018 01 08.
Artigo em Inglês | MEDLINE | ID: mdl-29217198

RESUMO

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 (ß 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. Mutational analysis of SUCLG1 gene showed, for the first time, the presence of c.41T > C in the exon 1 at homozygous state. In-silico analysis revealed that this mutation substitutes a conserved methionine residue to a threonine at position 14 (p.M14T) located at the SUCLG1 protein mitochondrial targeting sequence. Moreover, these analysis predicted that this mutation alter stability structure and mitochondrial translocation of the protein. In Addition, a decrease in mtDNA copy number was revealed by real time PCR in the peripheral blood leukocytes in the two patients compared with controls.


Assuntos
Encefalomiopatias Mitocondriais/enzimologia , Encefalomiopatias Mitocondriais/genética , Mutação de Sentido Incorreto , Succinato-CoA Ligases/deficiência , Succinato-CoA Ligases/genética , Acidose Láctica/genética , Erros Inatos do Metabolismo dos Aminoácidos/genética , Substituição de Aminoácidos , Pré-Escolar , Consanguinidade , DNA Mitocondrial/genética , Estabilidade Enzimática/genética , Feminino , Dosagem de Genes , Perda Auditiva/genética , Homozigoto , Humanos , Lactente , Masculino , Hipotonia Muscular/genética , Succinato-CoA Ligases/química
4.
J Clin Immunol ; 35(8): 745-53, 2015 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-26464197

RESUMO

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. RESULTS: The male-to-female ratio was 1.4. The median age at the onset of symptoms was 6 months and at the time of diagnosis 2 years. The estimated prevalence was 4.3 per 100,000 populations. The consanguinity rate was found in 58.2 % of families. According to the International Union of Immunological Societies classification, spectrums of PIDs were as follows: combined T-cell and B-cell immunodeficiency disorders account for the most common category (28.6 %), followed by congenital defects of phagocyte (25.4 %), other well-defined immunodeficiency syndromes (22.7 %), predominant antibody deficiency diseases (17.7 %), diseases of immune dysregulation (4.8 %), defect of innate immunity (0.4 %) and complement deficiencies (0.4 %). Recurrent infections, particularly lower airway infections (62.3 %), presented the most common manifestation of PID patients. The overall mortality rate was 34.5 %, mainly observed with combined immunodeficiencies. CONCLUSION: The distribution of PIDs was different from that reported in Western countries, with a particularly high proportion of Combined Immunodeficiencies and phagocyte defects in number and/or function. More is needed to improve PID diagnosis and treatment in our country.


Assuntos
Anticorpos/metabolismo , Linfócitos B/fisiologia , Síndromes de Imunodeficiência/epidemiologia , Sistema de Registros , Linfócitos T/fisiologia , Idade de Início , Anticorpos/genética , Proteínas do Sistema Complemento/genética , Consanguinidade , Feminino , Humanos , Síndromes de Imunodeficiência/classificação , Síndromes de Imunodeficiência/mortalidade , Lactente , Masculino , Prevalência , Análise de Sobrevida , Tunísia
5.
Hemoglobin ; 39(4): 251-5, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26016902

RESUMO

The ß hemoglobinopathies [ß-thalassemia (ß-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. In Tunisia, due to the high prevalence of consanguineous marriages, the recurrent risk of this disease is high. The average prevalence of hemoglobinopathies is 4.48%, reaching 12.50% in some focus regions. The molecular investigations on thalassemia contributed to establishing the spectrum of mutations in the Tunisian population. The total number of HBB gene mutations identified was 24. The two most frequent mutations, codon 39 (C > T) (HBB: c.118C > T) and IVS-I-110 (G > A) (HBB: c.93-21G > A) accounted for 70.0% of the total encountered ß-thal cases. These two mutations together with IVS-I-2 (T > G) (HBB: c.92 + 2T > G) and the Hb S variant account for more than 90.0% of all HBB genetic variants in Tunisia. Thus, developing rapid, inexpensive and reliable mutation-specific molecular diagnostic assays targeting our Tunisian populations is our aim to facilitate routine detection of hemoglobinopathies. In this report, we describe the successful application of the multiplex minisequencing assay as an alternative strategy for genetic diagnosis of HBB gene disorders in Tunisia.


Assuntos
Mutação , Globinas beta/genética , Talassemia beta/epidemiologia , Talassemia beta/genética , Genótipo , Humanos , Fenótipo , Análise de Sequência de DNA , Tunísia/epidemiologia
6.
Immunogenetics ; 66(1): 67-71, 2014 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-24127073

RESUMO

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. IL-12p40 deficiency has been identified especially in countries where consanguinity is high and where BCG vaccination at birth is universal. We investigated, in such settings, the clinical, cellular, and molecular features of six IL-12p40-deficient Tunisian patients having the same mutation in IL12B gene (c.298_305del). We found that this mutation is inherited as a common founder mutation arousing ~1,100 years ago. This finding facilitates the development of a preventive approach by genetic counseling and prenatal diagnosis especially in affected families.


Assuntos
Efeito Fundador , Predisposição Genética para Doença , Subunidade p40 da Interleucina-12/deficiência , Mutação/genética , Infecções por Mycobacterium/genética , Adulto , Alelos , Vacina BCG/uso terapêutico , Criança , Feminino , Genótipo , Humanos , Subunidade p40 da Interleucina-12/genética , Masculino , Infecções por Mycobacterium/imunologia , Infecções por Mycobacterium/microbiologia , Infecções por Mycobacterium/prevenção & controle , Mycobacterium bovis/isolamento & purificação , Linhagem , Tunísia
7.
Tunis Med ; 102(4): 205-211, 2024 Apr 05.
Artigo em Inglês | MEDLINE | ID: mdl-38746959

RESUMO

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 4.0-Scale (PedsQL4.0) evaluated HRQoL. RESULTS: At baseline, both groups had similar clinical features and PedsQL4.0 scores (p>0.05). In DSME, clinical outcomes were significantly improved from baseline to follow-up (p<0.001), while in the IEP group, which received no intervention, these outcomes remained unchanged. During follow-up, DSME showed higher PedsQL4.0 scores in parents' proxy-report and children/adolescents self-report (p<0.001). According to parents' proxy-report, PedsQL4.0 scores were significantly higher during follow-up compared to baseline in DSME (p<0.001) while they remained the same in IEP (p>0.05). DSME had higher percentage of change in the PedsQL4.0 scores than IEP (p<0.01). The median change varied from -5.01% to 0% vs 5.41% to 36.36% in IEP and DSME, respectively. CONCLUSION: Encouraging healthcare professionals to incorporate these interventions could enhance the HRQoL of diabetic children and bolster their self-esteem.


Assuntos
Diabetes Mellitus Tipo 1 , Pais , Educação de Pacientes como Assunto , Qualidade de Vida , Autogestão , Humanos , Diabetes Mellitus Tipo 1/terapia , Diabetes Mellitus Tipo 1/psicologia , Tunísia , Criança , Masculino , Feminino , Pais/psicologia , Autogestão/educação , Autogestão/métodos , Autogestão/psicologia , Adolescente , Educação de Pacientes como Assunto/métodos , Seguimentos
8.
Tunis Med ; 102(1): 54-57, 2024 Jan 05.
Artigo em Inglês | MEDLINE | ID: mdl-38545731

RESUMO

INTRODUCTION: Meningitis is a potentially life threatening illness. It requires prompt diagnosis and treatment. Recurrent meningitis needs detailed investigations to identify the underlying cause. OBSERVATION: We report a case of recurrent pneumococcal meningitis in a 9-year-old boy with an underlying congenital skull base abnormality. Brain computed tomography (CT) scan showed no obvious skull base defects. A magnetic resonance imaging (MRI) of the brain revealed a dehiscence of the cribriform plate with encephalomeningocele. The patient underwent an endoscopic repair of the bony defect and had not developed any new infections ever since. CONCLUSION: This case highlights the need to investigate recurrent bacterial meningitis with CT scan and MRI of the brain and skull base. Repair of these congenital skull base defects are mandatory to prevent the recurrence of meningitis.


Assuntos
Osso Etmoide , Meningite , Masculino , Humanos , Criança , Meningite/etiologia , Base do Crânio/anormalidades , Tomografia Computadorizada por Raios X , Cabeça , Imageamento por Ressonância Magnética , Recidiva
9.
J Clin Immunol ; 33(4): 865-70, 2013 May.
Artigo em Inglês | MEDLINE | ID: mdl-23314770

RESUMO

INTRODUCTION: Major histocompatibility complex class II (MHC-II) expression deficiency is a combined primary immunodeficiency leading to the impairment of the cellular and humoral immune responses. A majority of affected patients belong to consanguineous families particularly from the Maghreb, where a founder effect for a highly frequent mutation (named c.338-25_338del26) in the RFXANK gene was reported. Herein, we report the largest single Maghrebian country series of MHC-II deficient patients. PATIENTS AND METHODS: In Tunisia, among 551 PIDs diagnosed from 1993 to 2011, 54 had an MHC-II deficiency. The clinical features and immunological investigations were retrospectively analyzed in 34 children of them belonging to 28 kindred. The genetic study included the c.338-25_338del26 screening by the amplification of the affected region using polymerase chain reaction (PCR) followed by direct sequencing. RESULTS: Consanguinity was present in 22 out of 28 families. Mean age at the first infection was 6.1 months. Chronic diarrhea with failure to thrive and pulmonary infections were the most common manifestations occurring in 26 and 28 patients respectively. The most specific laboratory findings were the defect of MHC-II (HLA-DR) expression in all patients. The c.338-25_338del26 mutation was identified in 25 of them. CONCLUSION: In Maghrebian settings, pediatricians should definitely consider this diagnosis in the presence of an early onset of severe and recurrent infections of the respiratory and intestinal tracts, particularly protracted diarrhea with a failure to thrive. The founder effect for the c.338-25_338del26 mutation in the RFXANK gene is also confirmed, facilitating prenatal diagnosis as a preventive approach in the Tunisian affected families with severe forms, particularly in the context of limited access to bone marrow transplantation.


Assuntos
Antígenos HLA-DR/genética , Síndromes de Imunodeficiência/diagnóstico , Síndromes de Imunodeficiência/genética , Fatores de Transcrição/genética , Pré-Escolar , Consanguinidade , Análise Mutacional de DNA , Proteínas de Ligação a DNA , Diarreia/etiologia , Insuficiência de Crescimento/etiologia , Feminino , Efeito Fundador , Testes Genéticos/métodos , Humanos , Síndromes de Imunodeficiência/complicações , Lactente , Masculino , Linhagem , Diagnóstico Pré-Natal , Infecções Respiratórias/etiologia , Estudos Retrospectivos , Deleção de Sequência/genética , Tunísia
10.
J Hum Genet ; 57(3): 170-5, 2012 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-22089644

RESUMO

Glycogen storage disease type III (GSD III) is an autosomal recessive inborn error of metabolism caused by mutations in the glycogen debranching enzyme amylo-1,6-glucosidase gene, which is located on chromosome 1p21.2. GSD III is characterized by the storage of structurally abnormal glycogen, termed limit dextrin, in both skeletal and cardiac muscle and/or liver, with great variability in resultant organ dysfunction. The spectrum of AGL gene mutations in GSD III patients depends on ethnic group. The most prevalent mutations have been reported in the North African Jewish population and in an isolate such as the Faroe Islands. Here, we present the molecular and biochemical analyses of 22 Tunisian GSD III patients. Molecular analysis revealed three novel mutations: nonsense (Tyr1148X) and two deletions (3033_3036del AATT and 3216_3217del GA) and five known mutations: three nonsense (R864X, W1327X and W255X), a missense (R524H) and an acceptor splice-site mutation (IVS32-12A>G). Each mutation is associated to a specific haplotype. This is the first report of screening for mutations of AGL gene in the Tunisian population.


Assuntos
Sistema da Enzima Desramificadora do Glicogênio/genética , Doença de Depósito de Glicogênio Tipo III/diagnóstico , Doença de Depósito de Glicogênio Tipo III/genética , Adolescente , População Negra/genética , Criança , Pré-Escolar , Feminino , Haplótipos , Humanos , Lactente , Masculino , Mutação , Polimorfismo de Nucleotídeo Único , Tunísia
11.
Tunis Med ; 100(12): 881-886, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-37551538

RESUMO

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. Despite anti-tubercular therapy combined with intravenous immunoglobulin, the evolution was fatal. CONCLUSION: The case highlights the possible risk of such rare yet lethal complication of BCG vaccine. In suspected cases of primary immunodeficiency disease, inoculation of BCG should be postponed until appropriate screening tests exclude such diagnosis to prevent serious complications.

12.
J Spec Pediatr Nurs ; 26(2): e12324, 2021 04.
Artigo em Inglês | MEDLINE | ID: mdl-33421315

RESUMO

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. DESIGN AND METHODS: A single-center study using a randomized controlled design was conducted in a university hospital in the center of Tunisia from May 2018 to September 2019. Eighty-two families were randomly assigned to the intervention group (n = 41) of 8 weeks of group training sessions, or to the control group (n = 41) of usual care education. Thirty-seven families in the intervention group and 39 families in the control group received allocated intervention at baseline. Thirty-four families in each group completed the study at the 12-month follow-up. RESULTS: At baseline, the intervention and control groups were statistically comparable (p > .05). At follow-up, there were significant differences between the intervention and the control group in asthma symptom control, χ2 (1, N = 34) = 9.950, p = .002, and inhalation technique, χ2 (1, N = 34) = 5.916, p = .01. For AHCU and adherence to asthma controller, there was no significant difference between groups, χ2 (1, N = 34) = 3.219, p = .07, χ2 (1, N = 34) = 0.541, p = .46, respectively. The difference within time in asthma symptom control and inhalation technique was significant (p = 10-3 , p = .001; respectively). PRACTICE IMPLICATIONS: This study demonstrated that a family empowerment program significantly improved asthma symptom control and inhaler technique in children with asthma aged 7-17 years. This intervention could be clinically useful and time-saving for pediatric nurses.


Assuntos
Asma , Qualidade de Vida , Asma/tratamento farmacológico , Criança , Humanos
13.
Compr Child Adolesc Nurs ; 44(2): 122-133, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32302238

RESUMO

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 descriptive study was conducted among children with mild to severe asthma referred to the pediatric outpatient clinic of "Farhat Hached" University Hospital of Sousse (Tunisia) over a period of three months (April-June 2018). We collected data regarding clinical information, the number of hospitalizations and ED visits related to asthma in the past 12 months, asthma management behaviors, and quality of life of children. Multivariable logistic regression was performed using SPSS (20.0). A total of 90 children have participated in the study. The percentage of children aged 7 to 11 years was higher than the percentage of adolescents aged 12 to 17 years (67.8%; 32.2%, respectively). The final logistic regression model demonstrated that asthma severity and inhaler technique increased the odds of AHCU (OR a = 4.6; 95% CI: 1.1-18.1; p = .03, OR a = 2.9; 95% CI: 1.1-7.8; p = .02, respectively). Also, increased quality of life score reduced the odds of AHCU (OR a = 0.6; 95% CI: 0.4-0.9; p = .01). These results suggest that the organization of programs targeting the management of these factors can reduce the workload on hospital services and emergencies.


Assuntos
Asma , Qualidade de Vida , Adolescente , Asma/terapia , Criança , Atenção à Saúde , Serviço Hospitalar de Emergência , Hospitalização , Humanos
14.
Compr Child Adolesc Nurs ; : 1-11, 2020 Jul 20.
Artigo em Inglês | MEDLINE | ID: mdl-32687718

RESUMO

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. This was a descriptive study carried out in the pediatric outpatient clinic of a University Hospital in the center of Tunisia over a period of 3 months (April-June 2018). Participants were children with mild to moderate asthma aged 7 to 17 years. The Pediatric Asthma Quality of Life Questionnaire was used to assess quality of life. Binary logistic regression was performed to identify predictors of asthma-related quality of life. A total of 90 children participated in the study. Almost 68% of children were aged 7 to 11, and nearly 32% were adolescents. The mean of PAQLQ total score was 4.7 ± 1.2. The final logistic regression model demonstrated that asthma symptoms control had the greatest impact on quality of life, followed by acute health care use in the past 12 months (p = .007; p = .01, respectively). The child gender and the parent's quality of life were also associated with the child's quality of life (p = .02; p = .008, respectively). This study revealed that children and adolescents with mild to moderate asthma had a moderate quality of life score. Asthma symptoms control, acute health care use, gender, and parent's quality of life determined the quality of life of children with asthma. Family-based asthma training programs that target family functioning and asthma outcomes are required.

15.
J Genet ; 992020.
Artigo em Inglês | MEDLINE | ID: mdl-32089523

RESUMO

Primary ciliary dyskinesia (PCD) is a genetically heterogeneous hereditary disease caused by the structural abnormalities and dysfunction of motile cilia. The DNAH5 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 DNAH5 gene in a cohort of 10 clinically diagnosed Tunisian PCD patients using an optimized polymerase chain reaction-single-strand conformational polymorphism screening technique. Only one patient harboured a novel heterozygous variant in exon 63 (c.10767A>G), which was inherited from his father. This variant activates a cryptic splicing site. No deleterious mutation has been identified while screening the exons of the remaining patients. Our results show that the reported hot spot exons of DNAH5 gene are not mutated in Tunisian PCD patients. This is probably due to the differences of ethnical background of the previously reported patients. Further investigations should be performed to identify the mutations underlying PCD in this group of patients.


Assuntos
Dineínas do Axonema/genética , Transtornos da Motilidade Ciliar/genética , Predisposição Genética para Doença , Variação Genética , Adolescente , Alelos , Criança , Pré-Escolar , Transtornos da Motilidade Ciliar/diagnóstico , Éxons , Feminino , Estudos de Associação Genética , Genótipo , Humanos , Lactente , Recém-Nascido , Masculino , Splicing de RNA
16.
Environ Sci Pollut Res Int ; 27(19): 23379-23389, 2020 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-30569350

RESUMO

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. The impact of climate factors on viral circulation was statistically analyzed. From 2003 to 2015, the total rate of RSV bronchiolitis accounted for 34.5% and peaked in 2007 and 2013. RSV infection was higher in male cases and pediatric environment (p<0.001) and was detected in 47.3% of hospitalizations in intensive care units. The epidemic of this pathogen started in October and peaked in January (41.6%). When the infectivity of RSV was at its maximum, the monthly average rainfall was high (31 mm) and the monthly average temperature and the monthly average humidity were at their minimum (11 °C and 66%, respectively). RSV activity was negatively correlated with temperature (r = - 0.78, p = 0.003) and humidity (r = - 0.62, p = 0.03). Regression analysis showed that the monthly average temperature fits into a linear model (R2 = 61%, p < 0.01). No correlation between RSV activity and rainfall was observed (p = 0.48). The meteorological predictions of RSV outbreaks with specific Tunisian climate parameters will help in determining the optimal timing of appropriate preventive strategies. In the area of Sousse, preventive measures should be enhanced since October especially, when the temperature is around 11 °C and humidity is above 60%.


Assuntos
Bronquiolite , Infecções por Vírus Respiratório Sincicial , Infecções Respiratórias , Criança , Humanos , Lactente , Recém-Nascido , Masculino , Vírus Sinciciais Respiratórios , Estações do Ano , Tunísia
17.
Afr Health Sci ; 20(1): 444-452, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-33402933

RESUMO

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. RESULTS: In 12 departments, 123 CF children were collected. The median age at diagnosis was 5 months with a median diagnosis delay of 3 months. CF was revealed mostly by recurrent respiratory tract infections (69.9%), denutrition (55.2%), and/or chronic diarrhea (41.4%). The mean sweat chloride concentration was 110.9mmol/L. At least one mutation was found in 95 cases (77.2%). The most frequent mutations were Phe508del (n=58) and E1104X (n=15). Fifty-five patients had a Pseudomonas Aeruginosa chronic colonization at a median age of 30 months. Cirrhosis and diabetes appeared at a mean age of 5.5 and 12.5 years respectively in 4 patients each. Sixty-two patients died at a median age of 8 months. Phe508del mutation and hypotrophy were associated with death (p=0.002 and p<0.001, respectively). CONCLUSION: CF is life-shortening in Tunisia. Setting-up appropriate management is urgent.


Assuntos
Fibrose Cística/epidemiologia , Criança , Fibrose Cística/complicações , Diarreia/etiologia , Feminino , Humanos , Lactente , Masculino , Desnutrição/etiologia , Infecções Respiratórias/complicações , Infecções Respiratórias/etiologia , Estudos Retrospectivos , Tunísia/epidemiologia , Adulto Jovem
18.
Clin Med Insights Pediatr ; 13: 1179556519862280, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31384137

RESUMO

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). Three sessions (Before-Ramadan [Before-R], Mid-Ramadan [Mid-R], After-Ramadan [After-R]) were selected for spirometry measurements. Spirometry was performed around 5.5 to 3.5 h before sunset and the spirometric data were expressed as percentages of local spirometric norms. RESULTS: The two groups of fasters and non-fasters had similar ages and weights (13.35 ± 0.79 vs 12.96 ± 0.45 years, 46.8 ± 9.2 vs 41.7 ± 12.6 kg, respectively). There was no effect of Ramadan fasting on forced vital capacity (FVC), forced expiratory volume in 1 s (FEV1), FEV1/FVC, peak expiratory flow, and maximal mid-expiratory flow. For example, during the Before-R, Mid-R, and After-R sessions, there was no significant difference between the fasters and non-fasters mean FVC (101 ± 11 vs 99 ± 14, 101 ± 12 vs 102 ± 14, 103 ± 11 vs 104 ± 13, respectively) or FEV1 (101 ± 13 vs 96 ± 16, 98 ± 11 vs 97 ± 16, 101 ± 10 vs 98 ± 16, respectively). CONCLUSIONS: Ramadan fasting had no interaction effect with the spirometric data of Tunisian healthy male adolescents.

20.
PLoS One ; 12(11): e0188325, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-29149199

RESUMO

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. The viral distribution and its association with clinical symptoms were statistically analyzed. Viral pathogens were detected in 342 (91.93%) of the samples of which 28.76% were single positive and 63.17% had multiple infections. The most frequent detected viruses were rhinovirus (55.64%), respiratory syncytial virus A/B (33.06%), adenovirus (25.00%), coronavirus NL63, HKU1, OC43, and 229E (21.50%), and metapneumovirus A/B (16.12%). Children in the youngest age group (1-3 months) exhibited the highest frequencies of infection. Related to their frequency of detection, RSV A/B was the most associated pathogen with patient's demographic situation and clinical manifestations (p<0.05). Parainfluenza virus 1-4 and parechovirus were found to increase the risk of death (p<0.05). Adenovirus was statistically associated to the manifestation of gastroenteritis (p = 0.004). Rhinovirus infection increases the duration of oxygen support (p = 0.042). Coronavirus group was statistically associated with the manifestation of bronchiolitis (p = 0.009) and laryngitis (p = 0.017). Streptococcus pneumoniae DNA was detected in 143 (38.44%) of tested samples. However, only 53 samples had a concentration of C-reactive protein from equal to higher than 20 milligrams per liter, and 6 of them were single positive for Streptocuccus pneumoniae. This study confirms the high incidence of respiratory viruses in children hospitalized for acute respiratory tract infections in the Sousse area, Tunisia.


Assuntos
Bronquiolite/epidemiologia , Gastroenterite/epidemiologia , Hospitalização/estatística & dados numéricos , Laringite/epidemiologia , Pneumonia Pneumocócica/epidemiologia , Infecções Respiratórias/epidemiologia , Adenoviridae/genética , Adenoviridae/patogenicidade , Bronquiolite/virologia , Proteína C-Reativa/metabolismo , Pré-Escolar , Coronavirus/genética , Coronavirus/patogenicidade , Feminino , Gastroenterite/virologia , Humanos , Incidência , Lactente , Recém-Nascido , Laringite/virologia , Masculino , Metapneumovirus/genética , Metapneumovirus/patogenicidade , Reação em Cadeia da Polimerase Multiplex , Parechovirus/genética , Parechovirus/patogenicidade , Pneumonia Pneumocócica/virologia , Vírus Sinciciais Respiratórios/genética , Vírus Sinciciais Respiratórios/patogenicidade , Infecções Respiratórias/virologia , Respirovirus/genética , Respirovirus/patogenicidade , Rhinovirus/genética , Rhinovirus/patogenicidade , Streptococcus pneumoniae/genética , Streptococcus pneumoniae/patogenicidade , Tunísia/epidemiologia
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