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1.
Eur Arch Paediatr Dent ; 24(5): 533-547, 2023 Oct.
Article in English | MEDLINE | ID: mdl-37803184

ABSTRACT

PURPOSE: The aim of this review was to compare the currently available root canal filling materials for primary teeth to zinc oxide eugenol (ZOE) to find a suitable alternative. The search question was: which root canal filling materials used in pulpectomy for primary teeth give better clinical and radiographic success rates than ZOE? METHODS: A systematic search was conducted using five databases, namely Cochrane central register of controlled trials (CENTRAL), MEDLINE via PubMed, Science Direct, Scopus and EBSCOhost using a selection of "MeSH terms". The "Modified Jadad Scale" was used for the methodology assessment of the included studies. RESULTS: Out of 480 articles identified in the initial search, 8 articles met all the inclusion criteria. The results showed that, compared to ZOE, ZOE with calcium hydroxide and iodoform had better clinical and radiographic success rates, a resorption rate similar to that of the roots, faster resorption of extruded particles and a maximum decrease in the size of pre-operative inter-radicular radiolucencies. CONCLUSION: Numerous materials, proposed and used by clinicians in root canal filling in primary teeth, can be recommended as alternatives to ZOE. However, none of them could be the ideal material in primary teeth. Thus, more high-quality well-designed randomised clinical trials are required to develop more high-performing materials.


Subject(s)
Root Canal Filling Materials , Zinc Oxide , Humans , Root Canal Filling Materials/therapeutic use , Eugenol , Tooth, Deciduous , Zinc Oxide-Eugenol Cement/therapeutic use , Calcium Hydroxide/therapeutic use , Pulpectomy/methods
2.
Eur Arch Paediatr Dent ; 22(2): 235-240, 2021 Apr.
Article in English | MEDLINE | ID: mdl-32643037

ABSTRACT

AIM: To assess the prevalence of black tooth stains and to investigate its correlation with caries experience in the primary dentition of 3-5-year-old children in the region of Monastir, Tunisia. METHODS: It was a descriptive cross-sectional study involving children in preschool establishments in Monastir, Tunisia. It consisted of an oral examination of 393 children and data collection through a questionnaire completed by parents. ANOVA test and Pearson Chi-square test were used to assess the prevalence of black stains and its association with dental caries. RESULTS: The overall mean decayed, missing, and filled teeth (dmft) index was 1.42 ± 0.1. Caries prevalence was 49.9%. Of all the children involved, 6.1% had black stains. A statistically significant relationship was found between black stain and the prevalence of early childhood caries (p = 0.047). However, the association with the dmft index was not statistically significant (p = 0.08). CONCLUSION: Preschool children with black tooth stain had lower dental caries experience. The results of the present study suggest that black stains are a protective factor for early childhood caries. More studies are needed to explore the risk factors of black stains.


Subject(s)
Dental Caries , Black or African American , Child , Child, Preschool , Coloring Agents , Cross-Sectional Studies , DMF Index , Dental Caries/epidemiology , Humans , Prevalence , Tooth, Deciduous
3.
Eur Arch Paediatr Dent ; 22(2): 111-119, 2021 Apr.
Article in English | MEDLINE | ID: mdl-33184697

ABSTRACT

AIM: The aim of this study was to systematically review the literature to answer the question: Are parental stress associated with early childhood caries (ECC)? METHODS: Electronic databases including MEDLINE (via Pubmed), Scopus and SciELO were searched. Cross-sectional and case-control studies that investigate the association between parental stress and ECC were included. The Newcastle-Ottawa scale was used to assess the risk of bias of the included articles. RESULTS: Out of 498 articles identified in initial research, 7 articles met the inclusion criteria; five were cross-sectional and two were control-case in design. A statistically significant correlation between ECC and total parental stress as well as a higher level of carious activity associated with total parental stress was reported in four studies. In two studies, no significant relationship between stress and ECC was found (P > 0.05) and in one study, parental stress was inversely associated with children's ECC status with better dental outcomes significantly associated with a higher level of parenting stress. CONCLUSION: Despite the fact that the heterogenicity of the following data precluded conclusions to be drawn, it was obvious that parenting stress or some of its domains may influence the development of carious lesions in young children.


Subject(s)
Dental Caries Susceptibility , Dental Caries , Child , Child, Preschool , Cross-Sectional Studies , Dental Caries/epidemiology , Dental Caries/etiology , Humans , Parenting , Parents
4.
Eur Arch Paediatr Dent ; 19(1): 65-71, 2018 Feb.
Article in English | MEDLINE | ID: mdl-29335888

ABSTRACT

BACKGROUND: Necrosis of permanent immature teeth is a common reason for consultation in paediatric dentistry. Apexification is a therapeutic procedure aiming to create an apical calcified barrier in open apex teeth. CASE REPORT: Two cases are presented in which apexification were completed on immature permanent traumatised incisors using a mineral trioxide aggregate (MTA) plug. FOLLOW-UP: At 2 and 5 years showed apical closure and radicular elongation beyond the MTA plug. CONCLUSION: Unexpectedly, a regeneration of mineral tissues beyond the MTA plug occurred which is an uncommon outcome.


Subject(s)
Aluminum Compounds/therapeutic use , Apexification/methods , Calcium Compounds/therapeutic use , Incisor/injuries , Oxides/therapeutic use , Root Canal Filling Materials/therapeutic use , Silicates/therapeutic use , Child , Dentition, Permanent , Drug Combinations , Female , Gutta-Percha/therapeutic use , Humans , Incisor/diagnostic imaging , Male , Maxilla , Root Canal Obturation/methods
5.
Ann Cardiol Angeiol (Paris) ; 66(1): 52-54, 2017 Feb.
Article in English | MEDLINE | ID: mdl-28139199

ABSTRACT

We report the case of a 2-month old infant who experienced recurrent sustained ventricular tachycardia (VT) in a structurally normal heart. Resting electrocardiogram (ECG) showed wide QRS with a complete right bundle branch bloc (RBBB) morphology. There was no family history of syncope or sudden death, but the ECGs of the father and the brother showed incomplete RBBB with negative T waves on V1 lead. This case seems to fit well with the newly defined entity of Brugada-like syndrome with a highly suspected genetic underlying disposition.


Subject(s)
Brugada Syndrome/diagnosis , Electrocardiography , Tachycardia, Ventricular/diagnosis , Brugada Syndrome/genetics , Bundle-Branch Block/diagnosis , Bundle-Branch Block/genetics , DNA Mutational Analysis , Diagnosis, Differential , Humans , Infant , Male , Recurrence , Sodium Channels/genetics , Tachycardia, Ventricular/genetics
6.
Arch Pediatr ; 24(2): 112-117, 2017 Feb.
Article in French | MEDLINE | ID: mdl-27993443

ABSTRACT

INTRODUCTION: The persistent ductus arteriosus remains a common congenital pathology. Although percutaneous closure of wide channels using an Amplatzer Duct Occluder is an attractive alternative to the surgical treatment, this prosthesis is not recommended for infants weighing less than 6kg. AIM OF THE STUDY: The objective was to evaluate the efficacy and safety of this prosthesis in low-weight children. PATIENTS AND METHODS: The records of children weighing less than 6kg who underwent closure with the Amplatzer Duct Occluder prosthesis between January 2010 and December 2014 were retrospectively analyzed. RESULTS: Fourteen patients (mean weight: 5.7kg [range: 4.8-6]; mean age: 6.5months [range: 3-12]) were included. The main circumstance for discovery was difficulty in breathing (93% of children). The average angiographic persistent ductus arteriosus diameter was 3.5mm (range: 3-6mm), correlating well with that found on ultrasound (r=0.68). The prosthesis was implanted successfully in 93% of cases. The only failure was explained by the increased risk of aortic subocclusion. The immediate angiographic occlusion rate was 71%. The average duration of the procedure was 46±12min. Three children had a channel C-type on the Krichenko classification. Two complications occurred in two patients: a case of cardiac tamponade drained during the procedure without incident and one case of partial protrusion of the Amplatzer disk into the aortic lumen. C-type (tubular) persistent ductus arteriosus and a ratio of the diameter of the persistent ductus arteriosus/weight greater than 0.95 were significantly associated with intervention failure and/or major complications during the percutaneous closure, while weight of less than 6kg was not retained as a predictor of procedure failure. No late embolization occurred after 11months of median follow-up. During this monitoring, we noted a marked clinical improvement with normalization of pulmonary pressure. CONCLUSION: This study includes the few records reported in the literature assessing the feasibility of percutaneous closure in persistent ductus arteriosus in infants weighing up to 6kg. It confirms the effectiveness of the procedure with a relatively low prevalence of complications.


Subject(s)
Angioplasty/methods , Cardiac Catheterization/methods , Ductus Arteriosus, Patent/therapy , Infant, Low Birth Weight , Septal Occluder Device , Angiography , Angioplasty/adverse effects , Cardiac Catheterization/adverse effects , Cardiac Tamponade/etiology , Cardiac Tamponade/therapy , Ductus Arteriosus, Patent/diagnostic imaging , Equipment Failure , Female , Humans , Infant , Infant, Newborn , Male
7.
Ann Cardiol Angeiol (Paris) ; 65(2): 81-6, 2016 Apr.
Article in French | MEDLINE | ID: mdl-25813652

ABSTRACT

OBJECTIVE: We evaluate the association between the decrease of serum paraxonase 1 activity and the risk of cardiovascular disease in type 2 diabetes. METHODS: One hundred and fourteen patients with type 2 diabetes were included in the present study. Seventy-one of them have significant coronary disease. The control group consisted of 53 healthy adults. RESULTS: PON1 activity was significantly reduced in diabetic patients compared to controls (P=0.021), especially in those with significant coronary disease (P=0.013). No significant variation in PON1 activity according to age was observed both in controls and in patients. When HDLc≥1.03mmol/L, the PON1 activity was significantly higher in patients without significant coronary disease compared to those with significant coronary disease (0.030). In case of significant coronary disease, a decrease of 12.23% in PON1 activity was observed in smokers compared with non-smokers, but without statistical significance. The PON1 activity did not very significantly according to the presence or absence of hypertension in patients with significant coronary disease. CONCLUSION: The implication of diabetes in the decrease of PON1 activity seems highly probable but PON1 activity seems not to be in itself a marker of cardiovascular disease.


Subject(s)
Aryldialkylphosphatase/blood , Cardiovascular Diseases/diagnosis , Diabetes Mellitus, Type 2/complications , Adult , Aged , Aged, 80 and over , Biomarkers/blood , Body Mass Index , Cardiovascular Diseases/blood , Cardiovascular Diseases/complications , Case-Control Studies , Female , Humans , Male , Middle Aged , Predictive Value of Tests , Risk Factors , Sensitivity and Specificity
8.
J Arrhythm ; 31(5): 326-7, 2015 Oct.
Article in English | MEDLINE | ID: mdl-26550093

ABSTRACT

Persistent left superior vena cava (PLSVC) can be incidentally detected during pacemaker implantation from the left pectoral side. Optimal site pacing is technically difficult, and lead stability of the right ventricle (RV) can lead to such a situation. We describe a case of successful single-chamber pacemaker implantation in a 76-year-old woman with a PLSVC and concomitant agenesis of the right-sided superior vena cava, after failed attempts with the conventional procedure. The pacemaker had been working well after 12 months of follow-up.

9.
Ann Cardiol Angeiol (Paris) ; 64(6): 439-45, 2015 Dec.
Article in French | MEDLINE | ID: mdl-26547525

ABSTRACT

UNLABELLED: FAST-MI Tunisian registry was initiated by the Tunisian Society of Cardiology and Cardio-vascular Surgery to assess characteristics, management, and hospital outcomes in patients with ST-elevation myocardial infarction (STEMI). METHODS: We prospectively collected data from 203 consecutive patients (mean age 60.3 years, 79.8 % male) with STEMI who were treated in 15 public hospitals (representing 68.2 % of Tunisian public centres treating STEMI patients) during a 3-month period at the end of 2014. The most common risk factor was tobacco (64.9 %), hypertension (38.6 %), diabetes (36.9 %) and dyslipidemia (24.6 %). RESULTS: Among these patients, 66 % received reperfusion therapy, 35 % with primary percutaneous coronary interventions (PAMI), 31 % with thrombolysis (28.6 % of them by pre-hospital thrombolysis). The median time from symptom onset to thrombolysis was 185 and 358 min for PAMI, respectively. The in-hospital mortality was 7.0 %. Patients enrolled in interventional centers (n=156) were more likely to receive any reperfusion therapy (19.8 % vs 44.6 %; p<0.001) than at the regional system of care with less thrombolysis (26.9 % vs 44.6 %; p=0.008) and more PAMI (52.8 % vs 8.5 %; p<0.0001). Also the in-hospital mortality was lower (6.4 % vs 9.3 %) but not significant. CONCLUSIONS: Preliminary results from FAST-MI in Tunisia show that the pharmaco- invasive strategy should be promoted in non-interventional centers.


Subject(s)
Angioplasty , Anti-Inflammatory Agents, Non-Steroidal/therapeutic use , Anticoagulants/therapeutic use , Cardiology , Heparin/therapeutic use , Myocardial Infarction/therapy , Acute Disease , Adult , Aged , Aged, 80 and over , Angioplasty/methods , Angioplasty/statistics & numerical data , Drug Therapy, Combination , Female , Hospitals, Public , Humans , Male , Middle Aged , Myocardial Infarction/mortality , Prospective Studies , Registries , Risk Factors , Societies, Medical , Treatment Outcome , Tunisia/epidemiology
10.
Adv Dent Res ; 27(1): 10-7, 2015 Jul.
Article in English | MEDLINE | ID: mdl-26101335

ABSTRACT

This review aims to determine the prevalence and severity of oral health diseases in the Africa and Middle East region (AMER). The profile of oral diseases is not homogeneous across the AMER. There are large disparities between groups. Reliable data are scarce. The prevalence and severity of oral diseases appear to be increasing in the African region, as does associated morbidity. There are substantial differences in inequalities in oral health. Dental caries prevalence is less severe in most African countries than in developed countries, but the high rate of untreated caries reflects the limited resources available and difficulties of access and affordability to essential oral health care services. The prevalence of gingival inflammation is very high in all age groups in several African countries. The prevalence of maxillofacial trauma has increased in many countries, with a wide variation of the incidence and high prevalence of traumatic dental injuries in primary and permanent teeth. Orofacial clefts are among the most common birth defects. Annual incidence of oral cancer is estimated as 25 cases per 100,000 people in Africa. Noma is a major public health problem for the Middle East and North African (MENA) region. Data about human immunodeficiency virus/AIDS are limited, particularly in the MENA region. According to the World Health Organization Regional Committee for Africa report, some fundamental key basic knowledge gaps need to be underlined. They include inequalities in oral health, low priority for oral health, lack of adequate funding, inadequate dental student training, obstacles to medical and dental research, and poor databases. There are very few effective public prevention and oral health promotion programs in the AMER. Universal health coverage is not achievable without scientific research on the effectiveness of health promotion interventions.


Subject(s)
Health Status Disparities , Healthcare Disparities , Mouth Diseases/epidemiology , Mouth Diseases/prevention & control , Africa/epidemiology , Health Policy , Health Priorities , Health Services Accessibility , Humans , Incidence , Middle East/epidemiology , Prevalence , Risk Factors , Severity of Illness Index
11.
East Mediterr Health J ; 19 Suppl 3: S32-7, 2014 Jan 09.
Article in English | MEDLINE | ID: mdl-24995757

ABSTRACT

Dental students can help in the fight against smoking. This study aimed to estimate the prevalence of smoking and assess behaviours, knowledge and attitudes among dental students in Monastir, Tunisia. A survey using a self-administered questionnaire was conducted during November 2008. The sample consisted of 1123 dentistry students aged 18 to 28 years. About 14% of the students were smokers (38.4% of boys and 3.4% girls, P < 0.0001) with an average of 16 cigarettes smoked daily. The age at smoking first cigarette ranged from 8 to 21 years (mean 16, SD 2.3 years). Among the smoker students, 66.5% of their fathers and 3% of their mothers were also smokers. Over 80% of these students were aware that smoking is harmful to health. These results reveal a need to include classes on smoking cessation in the dental curriculum.

12.
Pathol Biol (Paris) ; 60(3): 180-4, 2012 Jun.
Article in French | MEDLINE | ID: mdl-21621348

ABSTRACT

OBJECTIVE: Coronary artery disease (CAD) is a complex multifactorial disease due to the interaction of multiple genes variations and environmental factors. Genetic variants of lipoprotein lipase (LPL), a key enzyme in the hydrolysis of triglyceride rich particles, may contribute to CAD. We analysed here the frequency of LPL variants (p.Asp9Asn, p.Asn291Ser and p.Ser447X) in a Tunisian population as well as their association with circulating lipid level and risk of CAD. PATIENTS AND METHODS: LPL variations were investigated by PCR-RFLP and lipid parameters were measured in 135 patients and 109 controls. RESULTS: The frequency of the p.Asp9Asn variation was 10.37% in CAD patients versus 3.66% in controls. The frequency for the p.Ser447X variation was 8.8% in CAD patients versus 13.7% in controls. There was no significant association between these two variants and CAD. The p.Asn291Ser mutation variation was absent in this population. In healthy subjects, heterozygote carriers of the p.Asp9Asn substitution had a significant increase level of total cholesterol (4.2±0.9mmol/L vs 5.6±1.2mmol/L; P=0.01) and a decreased level of HDL-cholesterol (1.36±0.3mmol/L vs 0.93±0.1mmol/L; P=0.045). CONCLUSION: There was no significant association between genetic variants of the LPL gene and CAD in this Tunisian population. The very low frequency of the p.Asn291Ser variation may be an ethnic specificity of Tunisians.


Subject(s)
Coronary Disease/genetics , Lipoprotein Lipase/genetics , Polymorphism, Single Nucleotide , Aged , Amino Acid Substitution/genetics , Asparagine/genetics , Aspartic Acid/genetics , Case-Control Studies , Coronary Disease/diagnosis , Coronary Disease/epidemiology , Female , Genetic Association Studies , Genetic Predisposition to Disease , Genetics, Population , Genotype , Humans , Male , Middle Aged , Polymorphism, Single Nucleotide/physiology , Serine/genetics , Tunisia/epidemiology
13.
East Mediterr Health J ; 18(10): 1072-7, 2012 Oct.
Article in English | MEDLINE | ID: mdl-23301364

ABSTRACT

In 1981, the World Health Organization (WHO) together with the Fédération Dentaire Internationale (FDI) set global dental health goals for the year 2000 within the global strategy of health for all. In 1999, a team of experts drew up new goals to be achieved by 2020, which aimed to facilitate specific oral health policy development for each country. These goals are more general and have to be adapted to local circumstances. This paper aimed to adapt the WHO/FDI/IADR's Global goals for oral health 2020 to Tunisia and draw up new national goals and targets for Tunisia based on previous national oral health surveys.


Subject(s)
Health Policy , Oral Health , Health Promotion/organization & administration , Health Services Accessibility/organization & administration , Humans , Periodontal Diseases/prevention & control , Tooth Diseases/prevention & control , Tunisia/epidemiology , World Health Organization
14.
(East. Mediterr. health j).
in English | WHO IRIS | ID: who-118510

ABSTRACT

In 1981, the World Health Organization [WHO] together with the F‚d‚ration Dentaire Internationale [FDI] set global dental health goals for the year 2000 within the global strategy of health for all. In 1999, a team of experts drew up new goals to be achieved by 2020, which aimed to facilitate specific oral health policy development for each country. These goals are more general and have to be adapted to local circumstances. This paper aimed to adapt the WHO/FDI/IADR's Global goals for oral health 2020 to Tunisia and draw up new national goals and targets for Tunisia based on previous national oral health surveys


Subject(s)
Dental Caries , Periodontal Diseases , Tooth Loss , Mouth, Edentulous , Malocclusion , Fluorosis, Dental , Smoking , Dental Health Services , Oral Health
15.
Ann Clin Biochem ; 48(Pt 1): 83-6, 2011 Jan.
Article in English | MEDLINE | ID: mdl-21115573

ABSTRACT

Autosomal dominant hypercholesterolaemia (ADH) is due to defects in the LDL receptor gene (LDLR), in the apolipoprotein B-100 gene (APOB) or in the proprotein convertase subtilisin/kexin type 9 gene (PCSK9). The aim of this study was to identify and to characterize mutations at the origin of ADH in two Tunisian families. We found three genomic variations: (1) c.1845 + 1G > A, a splice site mutation in the LDLR gene and (2) two variations in the PCSK9 gene (p.Phe515Leu and p.Gly670Glu) that were both reported to be associated with high LDL-C levels. These results enlarge the spectrum of ADH-causative LDLR and PCSK9 variations in Tunisia. Our observations indicate that missense variations in the PCSK9 gene do not influence the clinical phenotype of ADH patients carrying a mutation in the LDLR gene.


Subject(s)
Hyperlipoproteinemia Type II/genetics , RNA Splicing/genetics , Receptors, LDL/genetics , Serine Endopeptidases/genetics , Humans , Mutation, Missense , Pedigree , Proprotein Convertase 9 , Proprotein Convertases , RNA Splice Sites/genetics , Tunisia
16.
Genet Mol Res ; 9(3): 1326-33, 2010 Jul 13.
Article in English | MEDLINE | ID: mdl-20645257

ABSTRACT

Peroxisome proliferator-activated receptor delta (PPAR-delta) is a transcription factor implicated in metabolism and inflammation. The +294T/C polymorphism in the PPAR-delta gene is associated with risk of coronary artery disease (CAD) in dyslipidemic women and hypercholesterolemic men. Whether this polymorphism influences the risk of CAD in the absence of dyslipidemia was not known, so we investigated a possible association of this polymorphism with plasma lipid and lipoprotein levels and with risk and outcome of CAD in a normolipidemic Tunisian population. Genotyping was performed by PCR-RFLP in 112 CAD patients and 113 healthy volunteers. The C-allele was significantly more frequent in patients than in controls (0.320 vs 0.189, P = 0.001). This association remained significant after adjustment for age, gender, body mass index, smoking, hypertension, and high-density lipoprotein cholesterol. Subjects carrying either one or two copies of the C-allele had a 2.7-fold higher risk of CAD than subjects homozygous for the T-allele. PPAR-delta genotypes were not associated with lipoprotein concentrations or outcome of CAD. We conclude that PPAR-delta +294T/C polymorphism is an independent risk factor of CAD in normolipidemic Tunisian subjects. The lack of association with lipoprotein concentrations suggests that the effect of the polymorphism on CAD is not mediated through lipoprotein levels in this population and that it may influence the atherosclerotic process through mechanisms involving inflammation.


Subject(s)
Coronary Artery Disease/genetics , Genetic Predisposition to Disease , Lipids/blood , PPAR gamma/genetics , Polymorphism, Single Nucleotide/genetics , Body Mass Index , Case-Control Studies , Coronary Artery Disease/blood , Female , Humans , Lipoproteins/blood , Male , Middle Aged , Treatment Outcome , Tunisia
17.
Atherosclerosis ; 203(2): 449-53, 2009 Apr.
Article in English | MEDLINE | ID: mdl-18757057

ABSTRACT

Familial hypercholesterolemia (FH) is an autosomal dominant disease caused by mutations in the low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB), and proprotein convertase subtilisin/kexin type 9 (PCSK9) genes. In previous studies, we have identified novel mutations in Tunisian FH families. In this study, we have extended our investigation to additional families. Five unrelated probands were screened for mutations in the LDLR and APOB genes, using direct sequencing and enzymatic restriction. We identified two novel LDLR mutations: a missense mutation in exon 7: p.Gly343Cys (c.1027G>T), and a nonsense mutation in exon 17: p.Lys816X (c.2446A>T). Using the PolyPhen and SIFT prediction computer programs the p.Gly343Cys is predicted to have a deleterious effect on LDL receptor activity. The missense mutation we found in exon 3, p.Cys89Trp (c.267C>G), has previously been identified in patients from United Kingdom and Spain, and is reported here for the first time in the Tunisian population. Finally, the framshift mutation in exon 10, p.Ser493ArgfsX44, is reported here for the fourth and fifth time in Tunisian families. The latter is the most frequent FH-causing mutation in Tunisia. These LDLR gene mutations enrich the spectrum of mutations causing FH in the Tunisian population. The framshift mutation, p.Ser493ArgfsX44, seems to be a founder mutation in this population.


Subject(s)
DNA Mutational Analysis , Hyperlipoproteinemia Type II/diagnosis , Hyperlipoproteinemia Type II/genetics , Mutation , Receptors, LDL/genetics , Adolescent , Adult , Aged , Exons , Family Health , Female , Heterozygote , Humans , Hyperlipoproteinemia Type II/epidemiology , Male , Pedigree , Polymorphism, Genetic , Tunisia
18.
Pathol Biol (Paris) ; 57(5): 444-50, 2009 Jul.
Article in French | MEDLINE | ID: mdl-19041195

ABSTRACT

Familial hypercholesterolemia or autosomal dominant hypercholesterolemia is characterized by raised serum LDL (low density lipoproteins)-cholesterol levels, which result in excess deposition of cholesterol in tissues, leading to accelerated atherosclerosis and increased risk of premature coronary heart disease. Familial hypercholesterolemia results from defects in the hepatic uptake and degradation of LDL via the LDL receptor pathway. Familial hypercholesterolemia is commonly caused by a loss of function in the LDL receptor gene, or by a mutation in the gene encoding apolipoprotein B (APOB) or PCSK9 gene. In Tunisia, the frequency of this disease is about one of 165 for heterozygote. It is a higher frequency compared to most European countries, which is about one of 500 for heterozygote. Only five mutations in the LDLR gene were reported in this population. No mutations in the APOB or PCSK9 gene were reported.


Subject(s)
Hyperlipoproteinemia Type II/epidemiology , Receptors, LDL/genetics , Apolipoproteins B/genetics , DNA Mutational Analysis , Genes, Dominant , Genes, Recessive , Genotype , Humans , Hyperlipoproteinemia Type II/genetics , Hyperlipoproteinemia Type II/prevention & control , Mutation , Proprotein Convertase 9 , Proprotein Convertases , Protein Structure, Tertiary , Receptors, LDL/chemistry , Receptors, LDL/deficiency , Serine Endopeptidases/genetics , Tunisia/epidemiology
19.
Clin Chim Acta ; 392(1-2): 25-9, 2008 Jun.
Article in English | MEDLINE | ID: mdl-18355452

ABSTRACT

BACKGROUND: Familial hypercholesterolemia (FH) is an autosomal dominant inherited disease caused by mutations in either the low-density lipoprotein receptor, the apolipoprotein B or the proprotein convertase subtilisin/kexin type 9 genes. It is characterized by a high concentration of low-density lipoprotein (LDL), which frequently gives rise to premature coronary disease. In this study, we report a novel splice site mutation of the LDL receptor gene in a Tunisian family. METHODS: Seven patients from the family were screened for mutations in the LDLR gene and the apoB gene, using direct sequencing. RT-PCR and study on cultured skin fibroblast were realised to characterize the effect of novel mutation. RESULTS: Direct sequencing of the promoter and 18 exons reveals a G>A substitution in the splice site junction of intron 8 (c.1186+1 G>A). Study on cultured skin fibroblasts showed a residual activity of 10% of the LDL receptor. Reverse transcription, amplification and direct sequencing of RNA from patient's lymphocytes reveal a deletion of the final 51 bp of exon 8 preserving the reading frame. CONCLUSIONS: The study identified a novel splice mutation c.1186+1 G>A in the LDL receptor gene. It causes the utilization of a new cryptic donor splice site 51 bp downstream from the normal site.


Subject(s)
Apolipoproteins B/genetics , Fibroblasts/metabolism , Hypercholesterolemia/genetics , Mutation , RNA Splice Sites , Receptors, LDL/genetics , Adult , Aged , Apolipoproteins B/metabolism , Cells, Cultured , Family , Female , Humans , Hypercholesterolemia/blood , Introns , Male , Middle Aged , Receptors, LDL/metabolism , Tunisia
20.
East Mediterr Health J ; 12(5): 625-31, 2006 Sep.
Article in English | MEDLINE | ID: mdl-17333803

ABSTRACT

This study is a follow-up of one made in 1998-99 on first-year dental students in Monastir. Now in their fifth year, we assessed the effect of dental studies on students' oral health practices and dental health. Of the 155 students in the first study, 140 were still enrolled. Periodontal troubles, malocclusion and dental decay affected 84.3%, 80.0% and 43.0% of the students respectively. Compared with the previous study, students had achieved a better dental health status--tooth brushing rate was much higher, prevalence of dental decay and periodontal pockets had decreased, and DMF index had improved. However, the prevalence of smoking, bleeding and calculus had not changed, and the frequency of malocclusion had increased.


Subject(s)
Education, Dental , Oral Health , Oral Hygiene , Students, Dental/statistics & numerical data , Adult , DMF Index , Dental Caries/epidemiology , Dental Caries/prevention & control , Dental Health Surveys , Education, Dental/organization & administration , Female , Fluorosis, Dental/epidemiology , Fluorosis, Dental/prevention & control , Follow-Up Studies , Health Behavior , Health Knowledge, Attitudes, Practice , Health Services Needs and Demand , Health Status , Humans , Male , Malocclusion/epidemiology , Malocclusion/prevention & control , Oral Hygiene/education , Oral Hygiene/psychology , Oral Hygiene/statistics & numerical data , Periodontal Diseases/epidemiology , Periodontal Diseases/prevention & control , Prevalence , Self Care , Sex Distribution , Students, Dental/psychology , Surveys and Questionnaires , Tunisia/epidemiology
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