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1.
Eur J Med Genet ; 63(5): 103874, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-32028041

RESUMO

Congenital atransferrinemia is an extremely rare autosomal recessive disorder resulting in the complete absence or extremely reduced amount of transferrin. In this study, we describe the first case of congenital atransferrinemia in Tunisia and the 18th patient in the reported data. The patient was referred to our hospital to explore a severe hypochromic and microcytic anemia. The laboratory evaluation including hematological and biochemical examination was performed in the proband and her parents. All exons of the transferrin gene were PCR amplified. The products were screened for mutations by direct sequencing. Based on laboratory and clinical findings, diagnosis of congenital atransferrinemia was confirmed. DNA sequencing revealed the presence of a novel homozygous deletion (c.293-63del) in the intron 13. This mutation is predicted to generate a higher score cryptic branch point leading to the production of an altered mRNA molecule. The second previously reported missense mutation p.Arg609Trp. Crystallographic structure analyzes demonstrate that the mutation would probably lead to significant conformational change not allowing the expression of transferrin protein. Current molecular characterization of this novel transferrin abnormality puts to the proof the variability in onset, first blood transfusion, and phenotypic expression in atransferrinemic patients.


Assuntos
Erros Inatos do Metabolismo dos Metais/genética , Mutação , Sítios de Splice de RNA , Transferrina/deficiência , Transferrina/genética , Feminino , Homozigoto , Humanos , Lactente , Erros Inatos do Metabolismo dos Metais/patologia , Domínios Proteicos , Transferrina/química , Transferrina/metabolismo
2.
Tunis Med ; 97(12): 1353-1356, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-32173804

RESUMO

BACKGROUND: A negative association between serum vitamin D levels and obesity has been reported by several studies. Data on vitamin D status in Tunisian obese children and its relationship with metabolic syndrome remain rare. AIM: We aimed to study the prevalence of vitamin D deficiency in Tunisian obese children and to examine the correlation between vitamin D levels and metabolic syndrome. METHODS: Thirty obese children matched to 30 non-overweight volunteer controls by age, gender and pubertal stage were included in a prospective study. Anthropometric parameters and blood pressure were measured.  Vitamin D level, fasting glucose and lipid profile were performed in all subjects. RESULTS: Vitamin D deficiency was more common in obese children (94% vs 80 %, p=0.002). Vitamin D level was negatively correlated with BMI (p= 0.001, r= -0.51). Six obese children were diagnosed with metabolic syndrome. Vitamin D levels were negatively correlated with waist circumference (p=0.019, r=-0.13), systolic Blood pressure (p=0.04, r=-0.26), triglyceride level (p=0.025, r= -0.3), insulin (p=0.01, r=-0.34) and HOMA-IR (p=0.035, r=-0.29). CONCLUSIONS: despite the sunny climate, the deficiency in vitalmine D is common in Tunisia. Vitamin D levels are inversely correlated with BMI and the risk of metabolic syndrome.


Assuntos
Síndrome Metabólica/epidemiologia , Obesidade Infantil/epidemiologia , Deficiência de Vitamina D/epidemiologia , Adolescente , Índice de Massa Corporal , Estudos de Casos e Controles , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Síndrome Metabólica/sangue , Síndrome Metabólica/complicações , Obesidade Infantil/sangue , Obesidade Infantil/complicações , Prevalência , Fatores de Risco , Tunísia/epidemiologia , Vitamina D/sangue , Deficiência de Vitamina D/sangue , Deficiência de Vitamina D/complicações
3.
BMC Pediatr ; 18(1): 307, 2018 09 24.
Artigo em Inglês | MEDLINE | ID: mdl-30249232

RESUMO

Following publication of the original article [1], one of the authors flagged that the title of the article was submitted (incorrectly) with "Full title:" at the beginning.

4.
BMC Pediatr ; 17(1): 208, 2017 12 19.
Artigo em Inglês | MEDLINE | ID: mdl-29258474

RESUMO

BACKGROUND: Peripheral venous catheterization (PVC) is frequently used in children. This procedure is not free from potential complications. Our purpose was to identify the types and incidences of PVC complications in children and their predisposing factors in a developing country. METHODS: We conducted a prospective observational multicenter study in five pediatric and pediatric surgery departments over a period of 2 months. Two hundred fifteen PVC procedures were conducted in 98 children. The times of insertion and removal and the reasons for termination were noted, and the lifespan was calculated. Descriptive data were expressed as percentages, means, standard deviations, medians and interquartile ranges. The Chi2 test or the Fisher test, with hazard ratios and 95% confidence intervals (CI95%), as well as Student's t test or the Mann-Whitney U test were used to compare categorical and quantitative variables, respectively, in groups with and without complications. The Spearman test was used to determine correlations between the lifespan and the quantitative variables. The Kruskal Wallis test was used to test for differences in the median lifespan within 3 or more subgroups of a variable. Linear regression and logistic binary regression were used for multivariate analysis. A p-value <0.05 was considered significant. RESULTS: The mean lifespan was 68.82 ± 35.71 h. A local complication occurred in 111 PIVC (51.9%) cases. The risk factors identified were a small catheter gauge (24-gauge) (p = 0.023), the use of a volume-controlled burette (p = 0.036), a longer duration of intravenous therapy (p < 0.001), a medical diagnosis of respiratory or infectious disease (p = 0.047), the use of antibiotics (p = 0.005), including cefotaxime (p = 0.024) and vancomycin (p = 0.031), and the use of proton pump inhibitors (p = 0.004).The lifespan of the catheters was reduced with the occurrence of a complication (p < 0.001), including the use of 24-gauge catheters (p = 0.001), the use of an electronic pump or syringe(p = 0.036) and a higher rank of the intravenous device in each patient (p = 0.010). CONCLUSIONS: PVC complications were frequent in our pediatric departments and are often associated with misuse of the device. These results could engender awareness among both doctors and nurses regarding the need for rationalization of the use of PVC and better adherence to the recommendations for the use of each drug and each administration method.


Assuntos
Cateterismo Periférico/efeitos adversos , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Modelos Lineares , Modelos Logísticos , Masculino , Análise Multivariada , Estudos Prospectivos , Fatores de Risco
5.
Int J Surg Case Rep ; 36: 179-181, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28601031

RESUMO

INTRODUCTION: Foreign body (FB) ingestion, a common and serious problem in children, can present with a wide variety of symptoms. This paper describes and discusses the case of an esophageal foreign body (EFB), in which the patient presented with primarily respiratory clinical signs causing delayed diagnosis. PRESENTATION OF CASE: A six month old boy presented with three months history of harsh cough, stridor and pulmonary congestion. He was repeatedly treated with steroids and antibiotics. His symptoms worsened progressively. On examination, he was tachypneic with suprasternal recession, scattered crepitations, diffuse wheeze and a continuous stridor. Chest X-ray was normal. The flexible bronchoscopy showed a posterior external compression on the middle wall of the trachea. The CT scan was normal. The contrast X-ray study of the esophagus revealed an endoluminal filling defect. The esophagoscopy revealed narrowing at 12cm of dental arch, and a bourgeoning yellow mass easily bleeding on contact. Esophageal biopsies were obtained, and histology was inconclusive. A surgical exploration was planned, but the infant forced out a pistachio shell after a chest physiotherapy session. DISCUSSION: Ingestion of FB by small children is a common problem. The majority of EFBs pass harmlessly through the gastrointestinal tract; however, some EFBs can cause significant morbidities. The diagnosis may be delayed leading to several complications especially if the ingestion of the FB is unwitnessed and when the clinician does not think of FB ingestion as part of the differential diagnosis of chronic respiratory signs. CONCLUSION: This case highlights, the importance of recognizing, the rare and often forgotten respiratory symptoms of EFB body to avoid diagnostic delay especially in unwitnessed FB ingestion.

6.
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
7.
Tunis Med ; 93(4): 205-11, 2015 Apr.
Artigo em Francês | MEDLINE | ID: mdl-26375735

RESUMO

BACKGROUND: Cow's milk protein allergy (CMPA) can be responsible of a variety of symptoms and can be caused by IgE or non-IgEmediated reactions. The remaining questions concern the diagnosis (what are the most suggestive clinical manifestations, the laboratory evaluations which play a supporting role, and the management of CMPA in breast fed infants and formula-fed infants. METHODS: Review of the pub med, science direct, Cochrane library, using the key words cow's milk protein allergy, guideline, and child. Evidence was levelled A, B, C. RESULTS: No symptom is pathognomonic. A thorough history and careful clinical examination are necessary to suspect the disease. Skin prick tests, and serum specific IgE are only indicative of sensitivation to CMP. A double-blind placebo-controlled challenge is considered the gold standard in diagnosis, but in practice only an open challenge is performed. The patient with suspected pathology will follow a cow's milk free diet for 2-4 weeks. Formula-fed infants get an extensively hydrolyzed formula .If the allergy is present, clinical manifestations will disappear. If symptoms do not improve, an amino acid based formula should be considered. In severe Cow's milk protein allergy with life-threatening symptoms, an amino-acid formula is recommended. The infant should be maintained on an elimination diet until the infant is between 9-12 months or at least for 6 months. The overall natural evolution of the disease is favorable with most patients achieving tolerance to milk by the age of five years. CONCLUSION: The importance of defined diagnostic criteria needs to be emphasized. It precludes infants from an unnecessary diet and avoids delay in diagnosis, which can lead to malnutrition.


Assuntos
Imunoglobulina E/imunologia , Hipersensibilidade a Leite/imunologia , Proteínas do Leite/imunologia , Humanos , Lactente , Hipersensibilidade a Leite/diagnóstico , Hipersensibilidade a Leite/terapia , Proteínas do Leite/efeitos adversos , Testes Cutâneos/métodos
8.
Tunis Med ; 93(8-9): 569-73, 2015.
Artigo em Francês | MEDLINE | ID: mdl-26815526

RESUMO

BACKGROUND: The frequency of cystic fibrosis is unknown in Tunisia, regarding the limited number of reported surveys and patients. AIM: to determine the clinical characteristics, outcome and genetic data of cystic fibrosis in Tunisian pediatric patients. METHODS: Cases of cystic fibrosis managed at pediatric departments of Tunis, during 15 years (1997-2012), were reviewed. RESULTS: 33 children (23 males and 10 females) were enrolled. The Onset was within the first year of life in 26 patients. Revealing symptoms were the following: recurrent bronchopneumonia (28 cases), chronic diarrhea (17 cases), hepatomegaly (6 cases), malnutrition (15 cases), pseudo Bartter syndrome (3 cases), edemaanemia- hypoprotidemia (4 cases) and meconium ileus (4 cases). The diagnosis was confirmed by sweat test and genotypic data, the F508 del was the most frequent mutation (17 cases). Several complications had occurred during follow-up: chronic pseudomonas aeruginosa infection (15 cases), chronic respiratory failure (14 cases), recurrent hemoptysis (2 cases), pleural effusion (3 cases) and cirrhosis (2 cases). Ten patients died at a mean age of 7 years. One patient had pulmonary transplantation. Prenatal diagnosis was performed in 9 families. CONCLUSION: In Tunisia, cystic fibrosis is not exceptional, but its diagnosis is delayed. Our survey is characterized by more severe earliest forms, difficult and insufficient therapeutic management. A Better medical awareness and a national action plan are needed.


Assuntos
Fibrose Cística/diagnóstico , Fibrose Cística/complicações , Fibrose Cística/epidemiologia , Diagnóstico Tardio , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Estudos Retrospectivos , Tunísia/epidemiologia
9.
Tunis Med ; 93(7): 454-7, 2015 Jul.
Artigo em Francês | MEDLINE | ID: mdl-26757503

RESUMO

BACKGROUND: Haematemesis is an alarming symptom in children, even if the proportion of normal endoscopies ranges from 10 to 21% and the causes are often benign. The purpose of the study was to identify clinical predictors of endoscopic lesions with high risk of bleeding and to establish a score that predict the presence of these lesions. METHODS: Retrospective study carried in Children's Hospital of Tunis between 1997 and 2006 involved children with haematemesis who underwent Upper gastrointestinal endoscopy. Several clinical parameters were analyzed. Univariate analysis and multivariate logistic regression were performed to identify predictive parameters of endoscopic lesions with high risk of bleeding. A score was developed from the parameters derived from the multivariate analysis. The sensitivity and specificity of the score were determined. RESULTS: Among 2814 endoscopies, 814 were conducted for haematemesis and 489 were selected for the study. 140/489 had lesions with high risk of bleeding. Multivariate logistic regression analysis identified six factors independently associated with high risk bleeding lesions: endoscopy performed within 48 hours (OR=2.2; 95% CI 0.7-6.9), re-bleeding (OR=1.4; 95% CI 0.7-2.5), the importance of the bleeding, mild to severe (OR=1.8; 95% CI 1.1-3), bright red haematemesis (OR=1; 95% CI 0.2-5.8), history of gastrointestinal and liver disease (OR=1.6; 95% CI 1.1-3) and intake of gastro toxic drugs (OR=1.3; 95% CI 0.8-2.3). Then, we established a score. The sensitivity, specificity, positive predictive value and negative predictive value of this score were respectively 79.6%, 32.9%, 34.9% and 78% for a cut off value>0.22. CONCLUSION: The clinical predictive parameters of high risk bleeding lesions identified have not yielded a score with significant sensitivity and specificity. A prospective study should be performed to improve the score.


Assuntos
Endoscopia Gastrointestinal/efeitos adversos , Hemorragia Gastrointestinal/etiologia , Hematemese/cirurgia , Adolescente , Criança , Pré-Escolar , Estudos de Coortes , Humanos , Lactente , Recém-Nascido , Estudos Retrospectivos , Fatores de Risco
11.
Tunis Med ; 93(10): 646-50, 2015 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-26895129

RESUMO

BACKGROUND: Upper gastrointestinal bleeding (UGIB) is a common pediatric emergency. Esophago-gastro-duodenoscopy (EGD) is the first line diagnostic procedure to identify the source of bleeding. However etiology of UGIB remains unknown in 20% of cases. Furthermore, emergency endoscopy is unavailable in many hospitals in our country. AIMS: Identify clinical predictors of positive upper endoscopy outcomes and develop a clinical prediction rule from these parameters. METHODS: Retrospective study of EGDs performed in children with first episode of UGIB, in the endoscopic unit of Children's Hospital of Tunis, during a period of six years. Statistical analysis used SPSS20. Univariate analysis was performed and multivariate logistic regression was then modelled to derive a clinical prediction rule. RESULTS: We collected 655 endoscopies (23.2% normal, 76.8% pathological). We found that time to EGD within 24 hours from the onset of bleeding (p=0.027; Adj OR: 3.30 [1.14 - 9.53]), rebleeding (p=0.009; Adj OR: 6.01 [1.57 - 23.02]), positive gastric lavage outcome (p=0.001; Adj OR: 4.79 [1.95 - 11.79]) and non steroidal anti-inflammatory drugs intake (p=0.035; Adj OR: 5.66 [1.13 - 28.31]) were predictors of positive upper endoscopy outcomes. By assigning each factor, the adjusted odds ratio (Adj OR), we developed a score with four items, ranging from 4 to 20. Using the receiver operating characteristic (ROC) curve the best cut off ≥ 9 was defined (sensitivity 88.2%, specificity 60.6%, positive predictive value 92.7% and negative predictive value 47.6%). The score discriminated well with a ROC curve area of 0.837 (95% confidence interval [0.769 - 0.905]). CONCLUSIONS: This clinical prediction rule is a simple measure that may identify children who needed emergency endoscopy. A prospective study is required to validate our results and evaluate other clinical features that were insufficient for this analysis.

12.
Fetal Pediatr Pathol ; 31(1): 1-6, 2013 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-22506968

RESUMO

We report an unusual variant of Lemierre's Syndrome (LS) in a 10-year-old-girl admitted to the intensive care unit for septic shock with meningitis. The primary infection was otitis media. A gram negative bacillus was identified in the direct exam of the purulent ear discharge and the cerebrospinal fluid but cultures were negative. Computerized tomography of the neck revealed a thrombus in the internal jugular vein. Septic shock improved rapidly under supportive treatment. The patient recovered without sequellae after a prolonged duration of parenteral antibiotherapy and hospital stay. Neurologic variants of LS with meningitis, previously reported in the literature, are reviewed.


Assuntos
Síndrome de Lemierre/fisiopatologia , Meningite/fisiopatologia , Otite Média Supurativa/complicações , Criança , Feminino , Humanos , Síndrome de Lemierre/etiologia , Meningite/etiologia
13.
Tunis Med ; 90(11): 789-92, 2012 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-23197056

RESUMO

BACKGROUND: Helicobacter pylori (Hp) infection is a common and universally distributed bacterial infection. It is predominantly acquired in childhood. AIM: To assess the relationship between endoscopic nodular gastritis and Hp infection. METHODS: A retrospective study was conducted in children who underwent upper gastrointestinal endoscopy for chronic abdominal pain. All children who had five gastric biopsies for histologic analysis, urease test and Hp culture were included in the study. The Sensitivity and sensibility of nodular gastritis were determined and different parameters were studied according the presence or not of nodular gastritis(age, gender, Hp status, gastritis score and lymphoid follicles). RESULTS: 49 children, mean age 6.9 ± 3 years (range 1-12 years) were eligible for the analysis. Hp Infection was diagnosed in 35 out of the 49 children (71.5 %). Nodular gastritis was recorded in 16 out of 49 children and in 14 infected children and 2 out of 14 non infected children (p=0.07), 40% sensitivity, 85.7% specificity, 87.5% positive predictive value, and 36,4% negative predictive value. The parameters associated significantly to the presence of nodular gastritis were older age: (p=0.04), Hp infection: (p=0.01), chronic gastritis: (p=0.05), active gastritis: (p=0.02), follicular gastritis: (p=0.005), higher gastritis score: (p=0.005). Completely normal gastric mucosal histology was never found in infected children with antral nodularity. Among all infected children, the gastritis score was significantly higher when there was a nodular gastritis and follicular gastritis was significantly associated to nodular gastritis. CONCLUSION: The endoscopic pattern of antral nodularity identifies children with Hp infection, and active chronic follicular gastritis.


Assuntos
Gastrite/diagnóstico , Gastrite/etiologia , Infecções por Helicobacter/complicações , Infecções por Helicobacter/diagnóstico , Helicobacter pylori/fisiologia , Adenoma/diagnóstico , Adenoma/epidemiologia , Adenoma/etiologia , Idade de Início , Criança , Pré-Escolar , Endoscopia Gastrointestinal , Feminino , Gastrite/epidemiologia , Infecções por Helicobacter/epidemiologia , Helicobacter pylori/isolamento & purificação , Humanos , Lactente , Masculino , Valor Preditivo dos Testes , Estudos Retrospectivos , Neoplasias Gástricas/diagnóstico , Neoplasias Gástricas/epidemiologia , Neoplasias Gástricas/etiologia
14.
Clin Biochem ; 45(15): 1183-6, 2012 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-22613267

RESUMO

BACKGROUND AND OBJECTIVES: Analbuminemia is a very rare autosomal recessive disorder. It is an allelic heterogeneous defect caused by a variety of mutations within the albumin gene. We describe in this report two new cases of analbuminemia in Libyans. DESIGN AND METHODS: The 14 coding exons of the human serum albumin (HSA) gene and their intron-exon junctions were PCR amplified. The products were screened for mutations by Denaturing High Performance Liquid Chromatography (DHPLC). Samples with altered DHPLC profiles were sequenced. RESULTS: DNA sequencing revealed the presence of a novol homozygous G➔T transition in the first base of intron 11 (c.1428+1G>T), in both children. This mutation destroys the GT consensus donor sequence found at the 5' end of most intervening sequences and would cause the defective pre-mRNA splicing. CONCLUSION: Molecular diagnosis based on DHPLC and DNA sequencing represents a powerful tool to study molecular defects causing analbuminemia.


Assuntos
Hipoalbuminemia/genética , Albumina Sérica/deficiência , Albumina Sérica/genética , Sequência de Bases , Pré-Escolar , Análise Mutacional de DNA , Estudos de Associação Genética , Heterozigoto , Humanos , Lactente , Líbia , Masculino , Dados de Sequência Molecular , Sítios de Splice de RNA
15.
Tunis Med ; 89(1): 50-4, 2011 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-21267829

RESUMO

BACKGROUND: Local data about prevalence of obesity in emerging countries are rather scarce. Risk factors for obesity, well known in most industrialized countries, are poorly understood in Tunisia. AIMS: To assess prevalence of overweight and obesity and to investigate associations with possible risk factors in a group of 6-12 year- old schoolchildren in Tunis, Tunisia. METHODS: A descriptive transversal study including a sample of 1335 schoolchildren (6-12 years; mean: 9.7 ± 1.5 years) was conducted in Tunis. Personal and parental data were collected by questionnaires completed by parents. Height and weight were measured and body mass index was calculated. Prevalence of overweight and obesity was defined based on international agreed cut-off points. RESULTS: Prevalence of overweight and obesity was 19.7% and 5.7%, respectively. Risk factors associated with overweight were: high degree- educated mother and father: 17.3% vs 11.7% (p=.01) (OR (95%CI): 1.58; 1.09-2.29) and 26% vs 17.4% (p=.002) (OR: 1.66; 1.21-2.29), respectively; mother, father high in occupational hierarchy: 7.2% vs 3.6% (p=0.009) (OR: 2.1; 1.2-3.7) and 14% vs 9% (p=.014) (OR: 1.6; 1.1-2.48), respectively. Overweight children had a significantly higher consumption of bread (p=.044), of snack intake (p=0.046) and of soft drink consumption (p=.035). CONCLUSIONS: Prevalence of overweight and obesity in this cohort are 19.7% and 5.7%, respectively. Substantial differences in food choices in families with the highest socio-economic status are among risk factors contributing to obesity development.


Assuntos
Obesidade/epidemiologia , Sobrepeso/epidemiologia , Criança , Estudos Transversais , Feminino , Humanos , Masculino , Prevalência , Fatores de Risco , Tunísia/epidemiologia , População Urbana
16.
Ann Biol Clin (Paris) ; 68(3): 311-5, 2010.
Artigo em Inglês | MEDLINE | ID: mdl-20478775

RESUMO

Leptin, an adipocyte-derived peptide hormone, is thought to play a key role in the regulation of body fat mass. Beyond this function, it appears to be an integral component of various hypothalamo-pituitary-endocrine feedback loops. Because childhood and puberty are periods of major metabolic and endocrine changes, we investigated leptin levels in 348 non overweight, non obese children (147 boys, 201 girls, age: 6-12 years) and then correlated these levels with age, anthropometric data, pubertal stage and insulin. A blood sample was collected from each subject to measure leptin and insulin levels by radioimmunoassay. Pubertal stage was assigned by physical examination, according to Tanner criteria for breast development in females and genital development in males. The results showed an increase in leptin levels in an age related way (r = 0.32, p < 0.0001 in girls; r = 0.21, p = 0.011 in boys) following a pattern that paralleled body weight (r = 0.6 in girls; r = 0.56 in boys; p < 0.0001) and BMI (r = 0.59 in girls; r = 0.6 in boys, p < 0.0001), suggesting that body fatness is a regulator of leptin levels in both girls and boys. A significant gender difference (3.39 +/- 2.79 ng/mL in girls vs 1.99 +/- 2.08 ng/mL in boys, p < 0.0001) with an increase during pubertal development in girls was also showed, while the levels remained constant in boys from Tanner stages T1 to T3. A correlation between leptin and insulinemia was noted in girls (r = 0.38, p < 0.0001) but not in boys, suggesting that insulinemia could be a stimulator of leptin synthesis in girls.


Assuntos
Leptina/sangue , Peso Corporal , Criança , Feminino , Humanos , Insulina/sangue , Masculino , Puberdade/sangue , Fatores Sexuais , Tunísia
17.
Pediatr Surg Int ; 26(2): 227-30, 2010 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-19823852

RESUMO

OBJECTIVE: To study the effect of non-steroidal anti-inflammatory drugs (NSAID) and of Helicobacter pylori infection on the gastric mucosa in children with upper GI bleeding (UGIB). METHODS: Eighty-four children, 41 males (mean age 92.6 months, 4-168 months) underwent an upper GI endoscopy with gastric biopsies for UGIB. Biopsies were analysed for histological assessment according to the updated Sydney classification and bacterial culture. The presence of H. pylori infection was retained when histology and/or culture were positive. A negative result was retained when both tests were concomitantly negative. Children were divided into two groups according to the severity of mucosal endoscopic injury. The risk factors, i.e. NSAIDs intake, laboratory haemostatic disorders, were reported. RESULTS: Helicobacter pylori infection was detected in 41 children (48.8%) out of the 84 presented with UGIB. Severe endoscopic damage (SED) group (n = 38, 45.2%), exhibited frank gastric lumen haemorrhage (n = 12), petechia (n = 12), erosions (n = 8), ulcerations (n = 4) in the gastric antrum and corpus. Mild endoscopic damage (MED) group (n = 46, 54.8%), exhibited; congestive mucosa (n = 16), nodular mucosa (n = 15) and pale mucosa (n = 4); 25 children out of 84 (29.8%) received NSAID. According to the severity of endoscopic injuries, none of the following risk factors exhibited significant results; gender, GI endoscopy <24 h, H. pylori infection. H. pylori-positive patients exhibited the same NSAIDs intake level between both groups, SED group; 9 NSAIDs intake (41%) versus 13 without NSAIDs intake (59%), n.s. and MED group; 5 NSAID intake (26%) versus 14 without NSAID intake (74%), n.s. CONCLUSION: In children presenting with UGIB, gut mucosal damage severity is significantly correlated to NSAIDs level intake especially in children younger than 24 months. The presence of H. pylori infection in children receiving NSAID seems not to increase gut mucosal injury severity.


Assuntos
Anti-Inflamatórios não Esteroides/efeitos adversos , Mucosa Gástrica/patologia , Hemorragia Gastrointestinal/patologia , Infecções por Helicobacter/complicações , Helicobacter pylori/isolamento & purificação , Doença Aguda , Biópsia , Pré-Escolar , Endoscopia Gastrointestinal , Feminino , Seguimentos , Mucosa Gástrica/efeitos dos fármacos , Mucosa Gástrica/microbiologia , Hemorragia Gastrointestinal/etiologia , Infecções por Helicobacter/patologia , Humanos , Lactente , Masculino , Prognóstico , Estudos Retrospectivos , Índice de Gravidade de Doença
18.
Tunis Med ; 87(4): 273-8, 2009 Apr.
Artigo em Francês | MEDLINE | ID: mdl-19835285

RESUMO

BACKGROUND: In our country, the prevention of rickets is based on daily vitamin D intake from birth to eighteen months. This vitamin D intake has decreased according to our hospital practice. AIM: To assess vitamin D supplementation prevalence and to study mother knowledge, attitude and practices about vitamin D and factors that influenced them and to define target population who needs further education. METHODS: A predefined questionnaire was submitted to 116 mother's child who was aged from two months to three years and were hospitalised for acute disease in Tunis children hospital. The questionnaire was filled by the paediatrician. He included as well questions on vitamin D supplementation and questions on sociodemographics characteristics. RESULTS: 68% of the infants had received vitamin D.The various significant factors who influenced the knowledge about vitamin D were father and mother out of work, low education level, and the living in a deserited area. The factors that influenced significantly the practices were the one parity and the living far away, up to five kilometre, from a primary health care. CONCLUSION: Given that the supplementation of vitamin D is recommended for all infants the study show that supplementation prevalence is unsatisfactorily low. Various risks factors were identified. In view of the new evidence emerging on additional preventive properties of vitamin D and the resurgence of rickets, its promotion must be discussed anew.


Assuntos
Conhecimentos, Atitudes e Prática em Saúde , Mães , Raquitismo/prevenção & controle , Vitamina D/uso terapêutico , Vitaminas/uso terapêutico , Adulto , Pré-Escolar , Estudos Transversais , Feminino , Humanos , Lactente , Masculino , Pessoa de Meia-Idade
20.
Tunis Med ; 85(9): 756-60, 2007 Sep.
Artigo em Francês | MEDLINE | ID: mdl-18254306

RESUMO

BACKGROUND: Active gastritis, atrophic gastritis (AG) and intestinal metaplasia are lesions associated with Helicobacter pylori (H. pylori) infection in adults. AIM: To assess the prevalence of chronic gastritis, its histological characteristics and clinical features in children. METHODS: 345 children (M/F: 151/194, mean age: 8.6 +/- 3.7 years; range: 1-18 years) were enrolled, referred for upper gastrointestinal endoscopy (UGI endo) with clinical manifestations of gastritis, i.e., recurrent abdominal pain (n = 232, 67.2%), upper gastrointestinal bleeding (n = 59, 17.1%) and miscellaneous (n = 53, 15.3%). Four perendoscopic gastric biopsy specimens (antrum: 2, fundus: 2) were taken. Biopsies were assessed and graded according to the updated Sydney system. H. pylori infection was considered if 2 out 3 tests were positive (culture, histology and rapid urease test), whereas 3 concordant negative results identified H. pylori negative children. RESULTS: H. pylori infection and chronic gastritis were detected in 215/345 (62.3%) (M/F: 104/117, sex ratio M/F = 0.89) and 221/345 (64.05%) children, respectively. Recurrent abdominal pain (n = 149, 67.4%) was the main clinical features of chronic gastritis followed by vomiting (n = 43, 19.5%) and upper gastrointestinal bleeding (n = 41, 18.6%). Any clinical features were however found to be specific. UGI endo showed; nodular gastritis (n = 90, 40.72%), congestive gastritis (n = 84, 38%), gastric ulcer (n = 9), bulbar ulcer (n = 5) and normal (n = 47, 21.2%). Chronic gastritis was active in 115 cases (52%) and was significantly associated with nodular gastritis (p < 0.05). Thirty two chronic gastritis (14.4%) exhibited AG (M/F: 16/16, mean age: 9.4 +/- 3.4 years) and 30/32 (93.7%) were H. pylori positive. AG was significantly associated with H. pylori infection (p < 0.0001) and nodular gastritis (p < 0.005). Active, follicular and AG were significantly associated with H. pylori infection (p < 0.00001). Three patients exhibited intestinal metaplasia. CONCLUSION: Chronic gastritis is frequent in children. Any clinical features were found to be specific. It significantly associated H. pylori infection and nodular gastritis. Atrophic gastritis was found in 14.5% of children.


Assuntos
Gastrite/diagnóstico , Gastrite/epidemiologia , Adolescente , Criança , Pré-Escolar , Doença Crônica , Feminino , Gastrite/microbiologia , Helicobacter pylori , Humanos , Lactente , Masculino , Prevalência
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