[Is paraoxonase 1 a marker of cardiovascular risk in youth with type 1 diabetes? (Study about 109 cases)]. / La paraoxonase 1: un marqueur de risque cardiovasculaire chez les jeunes diabétiques de type 1 ? (109 cas).

OBJECTIVES: We purpose to verify if paraoxonase 1 (PON1) activity may be a marker of cardiovascular risk in a young Tunisian population with type 1 diabetes (T1D). METHODS: PON1 activity was measured by a kinetic method using paraoxon as substrate. The other parameters were determined by automated methods. RESULTS: One hundred and nine children and adolescents with T1D and 97 healthy subjects were involved in this study. PON1 activity and PON1/HDL-cholesterol ratio were significantly decreased in diabetics (303 ± 174 vs. 372 ± 180 U/L and 221 ± 139 vs. 298 ± 20 1U/mmol, P=0.006, P=0.002, respectively) compared to controls. A significant increase in total cholesterol, LDL-c and microalbuminuria was observed in diabetics compared to controls. PON1 activity was decreased by 9.5% in patients with diabetes duration ≥ 6 years, by 28.4% for those with fasting glycemia ≥ 7 mmol/L (P<0.001), by 14% in those with HbA1c ≥ 8% and by 12.3% for diabetics with dyslipidemia. PON1 activity is reduced when the number of cardiovascular risk factors increases (P<0.001). CONCLUSION: PON1 seems to be associated to cardiovascular risk markers in T1D. This result remains to be seen. Nevertheless, improving PON1 activity could be a significant target for reducing cardiovascular risk.

Molecular diagnosis of distal renal tubular acidosis in Tunisian patients: proposed algorithm for Northern Africa populations for the ATP6V1B1, ATP6V0A4 and SCL4A1 genes.

BACKGROUND: Primary distal renal tubular acidosis (dRTA) caused by mutations in the genes that codify for the H + -ATPase pump subunits is a heterogeneous disease with a poor phenotype-genotype correlation. Up to now, large cohorts of dRTA Tunisian patients have not been analyzed, and molecular defects may differ from those described in other ethnicities. We aim to identify molecular defects present in the ATP6V1B1, ATP6V0A4 and SLC4A1 genes in a Tunisian cohort, according to the following algorithm: first, ATP6V1B1 gene analysis in dRTA patients with sensorineural hearing loss (SNHL) or unknown hearing status. Afterwards, ATP6V0A4 gene study in dRTA patients with normal hearing, and in those without any structural mutation in the ATP6V1B1 gene despite presenting SNHL. Finally, analysis of the SLC4A1 gene in those patients with a negative result for the previous studies. METHODS: 25 children (19 boys) with dRTA from 20 families of Tunisian origin were studied. DNAs were extracted by the standard phenol/chloroform method. Molecular analysis was performed by PCR amplification and direct sequencing. RESULTS: In the index cases, ATP6V1B1 gene screening resulted in a mutation detection rate of 81.25%, which increased up to 95% after ATP6V0A4 gene analysis. Three ATP6V1B1 mutations were observed: one frameshift mutation (c.1155dupC; p.Ile386fs), in exon 12; a G to C single nucleotide substitution, on the acceptor splicing site (c.175-1G > C; p.?) in intron 2, and one novel missense mutation (c.1102G > A; p.Glu368Lys), in exon 11. We also report four mutations in the ATP6V0A4 gene: one single nucleotide deletion in exon 13 (c.1221delG; p.Met408Cysfs*10); the nonsense c.16C > T; p.Arg6*, in exon 3; and the missense changes c.1739 T > C; p.Met580Thr, in exon 17 and c.2035G > T; p.Asp679Tyr, in exon 19. CONCLUSION: Molecular diagnosis of ATP6V1B1 and ATP6V0A4 genes was performed in a large Tunisian cohort with dRTA. We identified three different ATP6V1B1 and four different ATP6V0A4 mutations in 25 Tunisian children. One of them, c.1102G > A; p.Glu368Lys in the ATP6V1B1 gene, had not previously been described. Among deaf since childhood patients, 75% had the ATP6V1B1 gene c.1155dupC mutation in homozygosis. Based on the results, we propose a new diagnostic strategy to facilitate the genetic testing in North Africans with dRTA and SNHL.

Brain MRI and biological diagnosis in five Tunisians MLD patients.

Metachromatic leukodystrophy (MLD) is a recessive autosomal disease which is characterized by an accumulation of sulfatides in the central and peripheral nervous system. It is due to the enzyme deficiency of the sulfatide sulfatase i.e. arylsulfatase A (ASA). we studied 5/200 cases of MLD and clearly distinguished three clinical forms. One of them presented the juvenile form; two presented the late infantile form; and two other presented the adult form. The Magnetic Resonance Imaging (MRI) of these patients showed a diffuse, bilateral and symmetrical demyelination. The biochemical diagnosis of MLD patients evidencing the low activity of ASA and sulfatide accumulation. PATIENTS AND METHODS: We studied 5/200 MLD patients addressed to us for behavioral abnormalities and progressive mental deterioration. All of them were diagnosed at first by brain MRI evidencing a bilateral demyelination, then the measurement of ASA activity using P-nitrocathecol sulfate as substrate, finally the sulfatiduria was performed using thin-layer chromatography using alpha-naphtol reagent. RESULTS: In this study, from 200 patients presenting behavioral abnormalities and a progressive mental deterioration, we reported just 2 patients were diagnosed as late-infantile form of MLD. Only1 case presented as the juvenile form; and 2 patients with the adult-type of MLD. The brain magnetic resonance imaging (MRI) of all patients showed characteristic lesions of MLD with extensive demyelination. Biochemical investigations of these patients detected a low level of ASA activity at 0°C and 37°C; the excess of sulfatide in sulfatiduria. CONCLUSION: MRI is required to orient the diagnosis of MLD patients; the latter must be confirmed by the biochemical investigations which is based on the measurement of ASA activity and the excess of sulfatide showed in the sulfatiduria. VIRTUAL SLIDES: The virtual slide(s) for this article can be found here:http://www.diagnosticpathology.diagnomx.eu/vs/1791578262610232.

Contribution of laparoscopy in the abdominal tuberculosis diagnosis: retrospective study of about 11 cases.

OBJECTIVE: Abdominal tuberculosis is one of the most frequent extra-pulmonary localizations. Its diagnosis is difficult and may lead to a delayed prescription of specific treatment. This study is aimed at stressing the role of laparoscopy associated with a biopsy in the diagnostic confirmation of abdominal tuberculosis particularly in doubtful cases. METHODS: The diagnostic features of 11 cases hospitalized for abdominal tuberculosis in the Paediatric Surgery Department of Fattouma Bourguiba Hospital in Monastir for a 6-year period (2001-2006), were evaluated retrospectively. The diagnosis of abdominal tuberculosis was substantiated histopathologically by laparoscopy in all cases. The epidemiological and clinical characteristics along with the laboratory, radiological and histological data were studied. RESULTS: Eleven cases of abdominal tuberculosis with a mean age of 5.6 years were diagnosed. It was peritoneal tuberculosis in all cases and associated with intestinal localization in one case. A conversion to laparotomy was practiced in three patients: appendicular plastron in one case, pseudo-tumor aspect of an intestinal loop in another case and because of their pathological aspect appendicectomy and caecum biopsy in the third. The diagnosis was confirmed histologically by biopsies in nine cases and on excision pieces in the other two cases. All patients had an uneventful course with an antituberculosis treatment. CONCLUSION: Abdominal tuberculosis is still frequent in Tunisia. Because of its non-specific clinical presentation and the limited means of investigation, a laparoscopy with biopsy should be practiced as first line diagnostic tool in case of doubtful abdominal tuberculosis. The earlier the diagnosis is established and an adapted antituberculosis treatment is started, the better the prognosis is.

Epidemiological study of non-polio enterovirus neurological infections in children in the region of Monastir, Tunisia.

The epidemiological, virological, and clinical syndromes of 86 children younger than 13 years suspected of having neurological diseases and admitted to Fattouma Bourguiba Hospital of Monastir from January 2002 to November 2003 were analyzed. The presence of enterovirus was studied in cerebrospinal fluid (CSF) samples by reverse transcription-polymerase chain reaction (RT-PCR) and by isolation on cell culture. Sixty-one (71%) specimens were positive by RT-PCR, whereas 45 (52.3%) were detected by cell culture. Eighty percent (n = 36) of cultured enteroviruses were identified, whereas 20% were untyped. Echoviruses were isolated most frequently, with 32 cases (71.1%) in children. Echovirus 6 was the most commonly identified serotype (22.2%), followed by echovirus 13 (20%). The highest incidence on neurological infection (19.6%) occurred in children less than 6 months of age. The infected children were predominantly male (62.3%). Enteroviruses were detected in all the period of the year with the highest rate in the spring and summer months. Aseptic meningitis was the most commonly diagnosed disease (49%).

[Epidemiological transition and health impact of cardiovascular disease in Tunisia]. / La transition epidémiologique ses determinants et son impact sur les systemes de sante a travers l'analyse de la tendance des maladies cardiovasculaires en Tunisie.

OBJECTIVE: We aim at analysing the increase of CVDs in the Tunisian hospitals in order to assess the burden of NCDs in the transitional context. METHODS: Data are recorded through the Tunisian National Morbidity and Mortality Survey (TNMMS). In order to assess the CVDs (CHDs vs RHDs) trend, two representative samples of Cardiology Departements patients were compared one is selected from the TNMMS and the second from the hospitalisations recorded in 1992. Causes, stay duration, status at the end of the hospitalisation, transfer to another hospital and patients socio-demographic characteristics are recorded and compared for the two periods. All the diagnosis are coded referring to the DMC 10. To analyze the determinant of the epidemiological transition, we have elaborated the CVD causal pattern and we have documented all their determinants. RESULTS: CHD rate has dramatically increased, while RHD has decreased especially on men. In 1992, 39.2% of men and 11.8% of women were admitted for CHD. In 2002, these rate are respectivly 58.8% and 38.2% while RHD rates were, in 1992, 11.8% on men and 25.3% on women vs 4.4% and 11.7% respectively. CONCLUSION: This study has confirmed that so far controlling transmitted diseases seems to be successful, Tunisian people are about to face a new problems as hypertension, obesity, diabetes and tobacco smoking. The new challenge with the burden of diseases requires the implementation of a national strategy relevant to the epidemiological, social and economical transition. Population needs and cost effectiveness of interventions assessment is crucial to set the national priorities.

[Delays in acute myocardial infarction treatment: results of a multicenter study in the district of Tunis (Tunisia)]. / Delai de prise en charge et acces aux soins de l'infarctus du myocarde dans les structures hospitalieres. Résultats d'une étude multicentrique.

OBJECTIVE: We aimed to assess the acute myocardial infarction management in Tunis public hospitals during one year (from March 2000 to February 2001). METHOD: A standard questionnaire was designed to record prospective data on 740 patients with a follow up during 28 days. Multivariate analysis was performed using the logistic regression model with all-factors as well as age, gender, CHD risk factors as predictors of the delay and fatality. 54% of patients were admitted during the first 6 hours after the onset of symptoms. In multivariate analysis, the delay of consultation is significantly correlated with gender (OR = 2.3, p < 0.001), age (OR = 1.02, p < 0.01) and health insurance (OR = 1.5, p < 0.01). 90% of patients consulted in emergency wards. The emergency ambulance transported 19.6% of patients. 48% of patients underwent early revascularisation of thrombolysis, 51% on men vs 31% on women (p < 0.01). The fatality rate was higher on women 14% vs 6.4% on men (p < 0.01) at 5 days and 27.2% vs 13.6% at 28 days. In multivariate analysis, the principal fatality predictive factor was age (RR = 1.08, p < 0.001) and delay (2.56 p < 0.001) and tobacco smoking (RR = 2.83, p < 0.0001). CONCLUSION: This study highlighted the problem of acute myocardial infarction management in public hospitals in Tunisia and it constitutes a baseline to assess different interventions focusing on cardiovascular diseases control and surveillance.

[The cost of acute myocardial infarction management: the Tunisian experience]. / Cout direct medical de la prise en charge de l'infarctus du myocarde en phase aigue.

OBJECTIVE: To assess the medical direct cost of acute myocardial infarction. METHOD: Data are recorded through a prospective study in 7 wards of cardiology of the District of Tunis during one year: from November 2001 to October 2002. Cost of hospital stay, biologic analyses, drugs, functional investigations and possible non surgical cardiologic intervention (IC) was calculated. RESULTS: 632 AMI cases are recorded, the death rate is 7.8%. The average of hospital stay was 13.3 days. 49.1% of patients benefited from thrombolytic therapy, 55.5% benefited from a coronary angiography and 16.1% of an act of IC. The mean of direct cost (CGM) was 2171 Tunisian Dinars and the median was 1731 DT, of whom room costs 31.7%, 22.5% acts of IC, 7.2% drugs, 26.2% functional investigations and 12.4% biological analyses. The mean cost of IC was 3030 +/- 401 DT. CONCLUSION: The methodology of our study remains original in our country and can be used to assess the other aspects of AMI as other diseases cost management.

[Epidemiological features of patients hospitalized in coronary care units at the military hospital, Tunisia, for 1994-1998: preliminary results]. / Caractéristiques des patients hospitalisés dans le service de cardiologie de l'hôpital militaire entre 1994 et 1998: résultats préliminaires de l'etude tunisienne.

The aim of this study was to evaluate the frequency of cardiovascular disease and risk factors associated in patients hospitalised in coronary care units at Military Hospital, Tunis, over the period 1994-1998. The clinical features of 3513 patients (2389 men and 1124 women) on hospital admission were analysed. 47.3% of patients were hospitalised for coronary disease, 12.5% for valvular heart disease, 5.2% for cardiomyopathy, 16.2% for arrhythmia and conduction disturbance, 6.4% for hypertension and 12.2% for other pathologies. With this risk factor profile Tunisia has to implement a national strategy of primary prevention and heart heath promotion in addition to the efforts recently made in secondary prevention of some chronic disease such as hypertension and diabetes.

[Knowledge, treatment and control of hypertension. Results of a multicenter study of patients hospitalized for cardiac ischemia]. / Connaissance, traitement et controle de l'hypertension arterielle. Resultats d'une enquete multicentrique aupres de malades hospitalises pour cardiopathies ischemiques.

The study objective was to assess the prevalence, level of treatment, and control of hypertension in CHDs patients. We conducted a cross-sectional survey on 1109 patients hospitalised for a first episode of MI in the main hospitals of the District of Tunis during the period 1999-2000. Hypertension and control level are defined according to the JNC recommendations. HBP is defined as SBP > = 140 and or DBP > = 90 mm Hg and the use of blood pressure-lowering medication for the indication of hypertension. Hypertension is controlled by medication if SBP < 140 and DBP < 90 mm Hg. We conduct analysis by socio demographic variables, medical history and CHDs risk factors. 54.9% men and 72.1% women were hypertensive. The prevalence of hypertension increases with age in both genders. The logistic regression have shown that the age-adjusted odds ratios were statically significant for diabetes, obesity, high cholestrolemia and cigarettes smoking. Only 68.9% of the hypertensive were aware of having hypertension, women were more aware than men (84.6% versus 61.7%, p < 0.001). Awareness increase with age and education level. Among hypertensive, 94.4% were treated but only 41.3% were controlled. The study highlights the problem of the hypertension, and contributes to identify the iceberg of this CHDs risk factor. An effort must be done to involve the health personnel for educating patients, the population for changing their life style and manager for enhancing the availability of drugs. The question is how much will be the cost of HBP and CVDs control for a country which has a limited resources.