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1.
Tunis Med ; 97(3): 455-460, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-31729720

RESUMO

BACKGROUND: Due to the marked decline of maternal-fetal rhesus incompatibility, ABO alloimmunization has become the leading cause of the newborn hemolytic disease. It is estimated that 15-25 % of all pregnancies are concerned by ABO incompatibility. AIM: Neonatal blood group B seems to be more predisposing to acute hemolysis and severe hyperbilirubinemia. We propose to find if the newborn's blood group B represents a risk factor for severe hemolysis and/or severe hyperbilirubinemia. METHODS: We conducted a comparative study in the pediatrics department "B" of the Children Hospital of Tunis. We collected retrospectively the medical files of the newborn hospitalized for ABO alloimmunization (January 2011 - March 2014), then we compared two groups, OA group with OA alloimmunization and OB group with OB alloimmunization. A significant threshold was fixed to 0.05. RESULTS: We collected 98 cases of newborn ABO hemolytic disease. Both groups, OA and OB, were similar for the onset of jaundice, age of hospitalization, initial hemoglobin and indirect bilirubin levels. There were no statistically significant difference in the severity of hyperbilirubinemia and the use of exchange transfusion for the two groups. However, transfusion was statistically more frequent in the OB group compared to OA group (81.6‰ vs 10.2‰, p = 0,039, OR=2.9, 95% IC (1.1 - 7.8)). CONCLUSION: OB alloimmunization seems to induce more active hemolysis than OA one, with no difference for severe hyperbilirubinemia in both groups.

2.
Allergol. immunopatol ; 47(2): 159-165, mar.-abr. 2019. tab
Artigo em Inglês | IBECS | ID: ibc-180804

RESUMO

Introduction and Objectives: Asthma is a complex genetic disorder. Several genes have been found associated with asthma. The cystic fibrosis transmembrane conductance regulator (CFTR) gene is one of them. The aim of this study was to perform a comparative analysis of the genotype and allele frequency distributions of the biallelic marker M470V within the CFTR gene on mutant and wide chromosomes. Patients and methods: The molecular approach consists in the genotyping of the M470V marker by the PCR-RFLP technique in 105 asthmatic patients, aged between four months and 17 years, and 105 healthy subjects. Results: We found a significant difference in the genotype frequencies between the two studied groups (chi2 = 9.855, P = 0.007). The V/V genotype was over represented in the asthmatic group as compared to the controls (32.38% vs. 16.19%). Whereas, the M/V genotype is more frequent in healthy subjects (40.95% vs. 28.71%). We also noted a significant difference in allelic distribution of M470V with associated diseases (chi2 = 9.610, P = 0.022). Conclusions: The present study is the first report on the distribution of the M470V polymorphism in asthmatic Tunisian patients. We noticed that the M470V variant could modulate the clinical phenotype of asthmatic patients. This preliminary study will establish the molecular basis of this disease in Tunisia


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Assuntos
Humanos , Masculino , Lactente , Pré-Escolar , Criança , Adolescente , Asma/genética , Regulador de Condutância Transmembrana em Fibrose Cística/genética , Genótipo , Mutação/genética , Frequência do Gene , Estudos de Associação Genética , Fenótipo
4.
Artigo em Inglês | MEDLINE | ID: mdl-30268379

RESUMO

INTRODUCTION AND OBJECTIVES: Asthma is a complex genetic disorder. Several genes have been found associated with asthma. The cystic fibrosis transmembrane conductance regulator (CFTR) gene is one of them. The aim of this study was to perform a comparative analysis of the genotype and allele frequency distributions of the biallelic marker M470V within the CFTR gene on mutant and wide chromosomes. PATIENTS AND METHODS: The molecular approach consists in the genotyping of the M470V marker by the PCR-RFLP technique in 105 asthmatic patients, aged between four months and 17 years, and 105 healthy subjects. RESULTS: We found a significant difference in the genotype frequencies between the two studied groups (χ2=9.855, P=0.007). The V/V genotype was over represented in the asthmatic group as compared to the controls (32.38% vs. 16.19%). Whereas, the M/V genotype is more frequent in healthy subjects (40.95% vs. 28.71%). We also noted a significant difference in allelic distribution of M470V with associated diseases (χ2=9.610, P=0.022). CONCLUSIONS: The present study is the first report on the distribution of the M470V polymorphism in asthmatic Tunisian patients. We noticed that the M470V variant could modulate the clinical phenotype of asthmatic patients. This preliminary study will establish the molecular basis of this disease in Tunisia.

6.
Afr Health Sci ; 18(3): 664-670, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-30602999

RESUMO

Background: Cystic fibrosis is rare in Tunisia. Its diagnosis requires experienced specialists. Its prognosis is poor in developing countries. Objectives: To study the epidemiologic, clinical, genetic features and the therapeutic challenges of cystic fibrosis in Tunisian children. Methods: Covering a period of 21 years, this retrospective study included all patients with a definite diagnosis of cystic fibrosis from the Pediatrics Department B of The Children's Hospital of Tunis. Results: Data from 32 children (14 boys and 18 girls) were collected. The diagnosis was made during the first year of life in 28 cases. Meconium ileus was found in 5 cases, respiratory manifestations in 22 cases, chronic diarrhea in 19 cases, faltering growth in 17 cases and a pseudo Barter syndrome in 2 cases. The sweat chloride test was positive in all cases. The most frequent mutation was F508del (56% of cases). Respiratory complications marked the outcome. Among our 32 patients, 15 patients (50%) died at an average age of 5 years and 3 months, mainly due to respiratory failure. The mean age of the surviving patients was 5 years. Conclusion: Cystic fibrosis prognosis is poor in our series compared to developed countries due to the longer diagnostic delay and the limited therapeutic options.


Assuntos
Fibrose Cística/epidemiologia , Pré-Escolar , Fibrose Cística/genética , Fibrose Cística/patologia , Fibrose Cística/terapia , Feminino , Humanos , Masculino , Estudos Retrospectivos , Tunísia/epidemiologia
7.
Ann Biol Clin (Paris) ; 75(4): 466-473, 2017 Aug 01.
Artigo em Inglês | MEDLINE | ID: mdl-28751295

RESUMO

Pseudo-Bartter syndrome (PBS) describes an uncommon complication of cystic fibrosis leading to hypochloraemic, hypokalaemic metabolic alkalosis. PBS as the sole manifestation of cystic fibrosis in children is extremely rare and has never been described in patients carrying 5T variant. We report a clinical, biochemical and genetic study of a four year-old boy presenting a pseudo-Bartter syndrome as the sole manifestation of cystic fibrosis. All 27 exons and the flanking intron regions of the CFTR gene were analysed by PCR and direct sequencing. Direct sequencing was also used to analyse TGmTn and M470V polymorphisms in the patient and his parents. Two sweat tests were abnormal with elevated chloride levels at 78 and 88 mmol/L. DNA sequencing revealed a heterozygous mutation 711+1 G>T and an IVS8-T5 allele. The mutation 711+1 G>T is in trans with the IVS8-T5-TG11 allele and the child carried M470/V470 genotype. To the best of our knowledge, the genotype 711+1 G>T /IVS8-5T found in our patient is described for the first time. The role of TG11-5T-V470 allele in cases of cystic fibrosis with PB syndrome remains to be determined.


Assuntos
Síndrome de Bartter/diagnóstico , Regulador de Condutância Transmembrana em Fibrose Cística/genética , Fibrose Cística/diagnóstico , Fibrose Cística/genética , Mutação , Síndrome de Bartter/genética , Pré-Escolar , Fibrose Cística/complicações , Diagnóstico Diferencial , Humanos , Masculino , Polimorfismo Genético
8.
Tunis Med ; 94(4): 290-297, 2016 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-27704513

RESUMO

Background Community-acquired pleuropneumonia (CPP) is a common complication of pneumonia in children. It is serious given its high morbidity and significant mortality. Aim To study clinical and paraclinical features of CPP in children and to establish a common therapeutic strategy. Methods Our retrospective study included patients who were hospitalized for CPP between 2004 and 2012. All data were collected from patients' medical files. Statistical analysis was made by Epi-Info 6. Results One hundred and sixty four patients were registered. The mean age was 32 months (15 days - 14.5 years). The hospital incidence of CPP doubled between 2004 and 2012. The symptomatology was dominated by fever (93.9%), cough (56.7%) and dyspnea (48.1%). The pleural effusion was frequently moderately abundant and loculated. Pleural sample, performed in 53.6% of cases, was the most beneficial bacteriological examination (p=10-6 ). The bacteriological confirmation was attained in 44.5% of cases with the predominance of Staphylococcus aureus (59%) followed by Streptococcus pneumoniae (26%). The S. aureus occurred basically in most young infants (p=0.04) and was responsible for the most severe cases (p=0.01). The CPP management included heterogeneous intravenous antibiotics associated with a pleural drainage in 40% of cases. The quarter of our patients were transferred to an intensive care unit. Six patients died. Conclusion The bacteriological confirmation is difficult. Pleural aspiration is the key tool. S. aureus is the first microorganism followed by S. pneumoniae. A therapeutic strategy is proposed based on large spectrum intravenous antibiotics. The pleural drainage indication is limited.


Assuntos
Infecções Comunitárias Adquiridas/epidemiologia , Derrame Pleural/epidemiologia , Pleuropneumonia/epidemiologia , Adolescente , Animais , Antibacterianos/uso terapêutico , Criança , Pré-Escolar , Infecções Comunitárias Adquiridas/microbiologia , Infecções Comunitárias Adquiridas/terapia , Tosse/epidemiologia , Tosse/etiologia , Drenagem/métodos , Dispneia/epidemiologia , Dispneia/etiologia , Feminino , Febre/epidemiologia , Febre/etiologia , Humanos , Lactente , Recém-Nascido , Masculino , Derrame Pleural/microbiologia , Derrame Pleural/terapia , Pleuropneumonia/microbiologia , Pleuropneumonia/terapia , Estudos Retrospectivos
9.
Afr Health Sci ; 16(1): 51-60, 2016 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-27358613

RESUMO

OBJECTIVE: Our study aimed at assessing the role of flexible bronchoscopy (FB) in improving diagnosis and management of children's respiratory conditions in the pediatric unit of FB, newly created and unique in Tunisia. METHODS: Retrospective study including all the FB achieved in our pediatric unit from 2009 to 2014. RESULTS: We performed 365 FB in 333 patients aged 46 months on average (1 month - 15 years), often under conscious anesthesia (81.6%). FB was performed for diagnostic purposes in 341 cases and for therapeutic purposes in 24 cases. Eight anatomical abnormalities were revealed in 22 patients. An intraluminal bronchial obstruction was found in 71 FB, mainly due to a foreign body (n=36). A vascular anomaly was responsible for nine cases out of 17 extraluminal obstructions. Airways malacia was observed in 60 FB. Bronchoalveolar lavage was performed in 196 cases. It was determinant in 43.9% of the cases. FB was of great diagnostic value in 74.8% of the cases. It influenced the management of the patients in 58% of the cases. The FB for therapeutic purposes was beneficial in all cases. Few complications occurred (5.5%). CONCLUSION: FB is a safe tool providing precious diagnostic and/or therapeutic help for the clinician.


Assuntos
Broncoscopia/estatística & dados numéricos , Doenças Respiratórias/diagnóstico , Doenças Respiratórias/terapia , Adolescente , Lavagem Broncoalveolar , Broncoscopia/métodos , Criança , Pré-Escolar , Feminino , Corpos Estranhos/diagnóstico , Corpos Estranhos/epidemiologia , Humanos , Lactente , Recém-Nascido , Unidades de Terapia Intensiva Pediátrica , Masculino , Anormalidades do Sistema Respiratório/diagnóstico , Anormalidades do Sistema Respiratório/epidemiologia , Anormalidades do Sistema Respiratório/terapia , Estudos Retrospectivos , Resultado do Tratamento , Tunísia/epidemiologia
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