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1.
Tunisie Medicale [La]. 2013; 91 (4): 273-277
em Inglês | IMEMR | ID: emr-151937

RESUMO

Bone loss is an ignored complication in inflammatory bowel diseases. Its underling mechanisms are not fully elucidated. To investigate bone turnover in patients with inflammatory bowel diseases.The study included 67 patients with inflammatory bowel diseases and 54 age- and sex-matched healthy subjects. Urinary degradation products of C-terminal telopeptide of type I collagen, serum osteocalcin, parathyroid hormone, 25 hydroxy vitamin D and interleukin-6 were assessed. Bone mineral density was measured by dual energy-X-ray absorptiometry and osteoporosis was defined as T score < -2.5 SD. Patients showed significantly higher levels of C-terminal telopeptide of type I collagen and interleukin-6 and lower levels of 25 hydroxy vitamin D. Serum osteocalcin and parathyroid hormone were in normal range. In multivariate analysis, urinary degradation products of C-terminal telopeptide of type I collagen were associated with disease activity [p=0.04] and osteocalcin was associated with parathyroid hormone [p=0.04]. Urinary degradation products of Cterminal telopeptide of type I collagen and interleukin-6 were significantly increased in inflammatory bowel disease patients with osteoporosis. No association was found between osteoporosis and serum osteocalcin, parathyroid hormone and 25 hydroxy vitamin D. Bone resorption rate is increased and is associated with osteoporosis in inflammatory bowel disease patients. Inflammation, malnutrition, and hypovitaminosis D may contribute to the bone loss

2.
Tunisie Medicale [La]. 2013; 91 (1): 59-65
em Francês | IMEMR | ID: emr-140264

RESUMO

Celiac disease [CD] is characterized by a malabsorption syndrom. The bone anomalies are one of the principal complications of this disease. The osteoporosis frequency is high: 3.4% among patients having with CD versus 0.2% in the general population. To study the bone mineral density during the CD, to compare it to a control group and to determine the anomalies of biochemical markers of bone turn over and level of interleukin 6 cytokin [IL6] in these patients. All patients with CD have a measurement of bone mineral density by dual-energy x-ray absorptiometry [DXA], a biological exam with dosing calcemia, vitamin D, parathormone [PTH], the osteoblastic bone formation markers [serum osteocalcin, ALP phosphates alkaline], bone osteoclastic activity [C T‚lopeptide: CTX] and of the IL6. 42 patients were included, with a median age of 33.6 years. 52. 8% of the patients had a low level of D vitamine associated to a high level of PTH. An osteoporosis was noted in 21.5% of patients. No case of osteoporosis was detected in the control group. The mean level of the CTX, ost‚ocalcine and the IL6 was higher among patients having an osteoporosis or ost‚openia compared to patients with normal bone [p = 0,017]. The factors associated with an bone loss [osteopenia or osteoporosis] were: an age > 30 years, a weight < 50 kg, a level of ALP phosphates alkaline > 90 UI/ml, an hypo albuminemia < 40 g/l and a level of CTX higher than 1.2. Our study confirms the impact of the CD on the bone mineral statute. The relative risk to have an osteopenia or an osteoporosis was 5 in our series. The measurement of the osseous mineral density would be indicated among patients having a CD


Assuntos
Humanos , Masculino , Feminino , Osso e Ossos/metabolismo , Biomarcadores , Reabsorção Óssea , Interleucina-6 , Citocinas , Densidade Óssea , Osteoporose
3.
Tunisie Medicale [La]. 2012; 90 (3): 258-261
em Inglês | IMEMR | ID: emr-146097

RESUMO

Inborn errors of metabolism are neglected in developing countries because they are not as common as infectious and nutritional disorders. In Tunisia, no information is available on the incidence and epidemiological features of these inherited metabolic diseases. To precise the profile of aminoacidopathies other than phenylketonuria and organic acidurias and to estimate their incidences in Tunisia. Between 1987 and 2009, our laboratory received 13171 requests for analysis of patients with symptoms suggestive of inborn errors of metabolism. For these cases, ion exchange chromatography of free amino acids was performed on amino acids analyser. Urinary organic acids profiles were determined by gas chromatography-mass spectrometry. Abnormal cases were 370 [2.8%], divided into 212 cases of aminoacidopathies [57.3%] and 158 cases of organic acidurias [42.7%]. The most frequent aminoacidopathies, were maple syrup disease [32.5%], tyrosinemia type I [28.8%] and nonketotic hyperglycinemia [16%]. Methylmalonic aciduria [33.5%], propionic aciduria [18.4%] and 2-hyrdoxy glutaric aciduria [10.8%] were the most frequent organic acidurias. The incidences were calculated using the Hardy-Weinberg formula and were estimated at 1/13716 for maple syrup disease, 1/14804 for tyrosinemia type I, 1/16144 for methylmalonic aciduria and 1/23176 for propionic aciduria. Aminoacidopathies and organic acidurias turned out to be highly frequent in Tunisia, mainly because of a high rate of consanguinity. We believe that they are underestimated. To improve their diagnosis, it is necessary to have available sophisticated equipment which would allow early treatment of patients


Assuntos
Humanos , Masculino , Feminino , Transtornos Congênitos do Transporte de Aminoácidos/diagnóstico , Cromatografia Gasosa-Espectrometria de Massas/métodos , Programas de Rastreamento/métodos , Estudos Retrospectivos , Incidência , Fatores de Tempo , Coleta de Dados
4.
Tunisie Medicale [La]. 2012; 90 (8/9): 619-624
em Inglês | IMEMR | ID: emr-151891

RESUMO

Hypertension is a polygenic disease. Various single-nucleotide gene polymorphisms of rennin angiotensin system have been explored in hypertension. Angiotensin II, the major biologically active component of this system, exerts its effect via two pharmacologically distinct subtypes of angiotensin II receptors, the angiotensin II type 1 receptor and the angiotensin II type 2 receptor. To examine whether the 3123 C/A polymorphism of angiotensin II type 2 receptor gene is involved in hypertension in a sample of Tunisian population. A total of 403 normotensive subjects and 382 hypertensive patients were included in the study. Genotyping was performed by polymerase chain reaction followed by Alu I restriction digestion. The frequency of "A" genotype was not significantly different between the two groups in men [-2=1.18; p=0.16]. The estimated odds prevalence for hypertension ["A" versus "C"] was 0.77 [95% CI 0.49 to 1.22, p=0.27]. After adjustment for confounding factors, the OR for hypertension remained no significant [OR: 1.49, 95% CI: 0.84-2.63, p=0.16]. In women, genotype distributions for C3123A variant in hypertensive patients were not significantly different from normotensive subjects ["2=3.16; p=0.20]. Multiple logistic regression analysis showed that the AA genotype was not significantly associated with hypertension [OR: 1.09, 95% CI: 0.58-2.06, p=0.77]. In the present study, we showed that the 3123 C/A polymorphism of AGT2R gene is not a significant factor for hypertension in a sample of Tunisian population

5.
Tunisie Medicale [La]. 2011; 89 (3): 288-291
em Francês | IMEMR | ID: emr-109392

RESUMO

Zellweger syndrome is the most severe phenotype of the peroxisome biogenesis disorders caused by mutations in PEX genes. PEX 1, 6 and 26 genes are most frequently implicated. Clinical phenotype can't predict the mutated gene. To report a novel mutation in the PEX 26 gene in infant with typical Zellweger syndrome. The infant was the second child to consanguineous parents; the 1st child was dead with neonatal hypotonia. At two month of age, we noted a severe hypotonia and growth failure, characteristic facial dysmorphic features and cryptorchidism. Sensorial investigations showed optic atrophy. Cerebral tomography revealed white matter hypodensity. Radiological examination revealed calcific stippling of the patellas. The clinical diagnosis was supported by measurement of plasma very-long-chain fatty acids, with elevated C24:0/C22:0, C26:0/C22:0 ratios and decreased docosanoic acid peak. The diagnosis was confirmed by dosage of DHAP-AT activity in fibroblasts which was very low. Ultrastructural examinations showed the presence of peroxisomal ghosts. Genetic analysis demonstrated a new mutation in PEX 26 gene.The death occurred at the age of 8 months of refractor epilepsy and apneas. The poor prognosis of ZS incites paediatricians to consider this disorder in etiological investigations of precocious hypotonia. Biochemical diagnosis, available in Tunisia, offers opportunity of prenatal diagnosis in affected families


Assuntos
Humanos , Masculino , Mutação , Peroxissomos , Epilepsia , Apneia
6.
Tunisie Medicale [La]. 2010; 88 (11): 783-788
em Francês | IMEMR | ID: emr-130897

RESUMO

Erythrocyte abnormalities are frequently associated with thyroid dysfunction. However, they are rarely investigated and related to the thyroid. This study was aimed to determine the nature and frequency of erythrocyte abnormalities in thyroid disease and look for their evolution after thyroid function restoration. This retrospective study included 412 patients with peripheral thyroid disease; hyperthyroidism [n=235] or hypothyroidism [n=177]. Hyperthyroidism was considered for TSH <0.10 IUI/ml and hypothyroidism for TSH> 5.01 IUI/ml. Anemia was defined by hemoglobin level <13 g/dl in men and <12 g/dl in women, microcytosis by mean corpuscular volume [MCV] <80 fl, macrocytosis by MCV> 98 fl, and hypchromia by mean corpuscular hemoglobin [MCH] <25 pg. Restoration of euthyroid state was considered in patients with normal TSH levels for at least 3 months. Anaemia was observed in 40.9% of patients with hyperthyroidism and 57.1% of patients with hypothyroidism. Among these, normocytic or macrocytic anaemia was present in 46.3% of cases. Whereas, microcytosis, with or without anaemia, was noted in 87.7% of patients with hyperthyroidism. FT4 was positively correlated with the number of red blood cells and haemoglobin, and inversely correlated with MCV and MCH. After restoration of euthyroid state, most erythrocyte abnormalities were corrected. Thyroid diseases are frequently associated with erythrocyte abnormalities, including normocytic anaemia in hypothyroidism and microcytosis in hyperthyroidism. These abnormalities should be investigated and corrected. Their presence could steer towards subclinical thyroid dysfunction, allowing its early management

7.
Tunisie Medicale [La]. 2010; 88 (9): 678-681
em Francês | IMEMR | ID: emr-130956

RESUMO

The elevation of hemoglobin A2 [HbA2] is an essential criterion in the diagnosis of minor beta thalassemia. To report a case of minor beta thalassemia HbA2 with normal HbA2 rate. We report the case of ten years old boy, with hypochromic microcytic anemia, refractory to iron treatment. The study of hemoglobin [Hb] has revealed the presence of a minor abnormal fraction of Hb, amounted to 2.8%, associated with the presence of HbF and normal levels of HbA2. Family study revealed the presence of two Hb abnormalities [beta thalassemia trait and HbA2 mutant] transmitted to offspring in isolation or associated. The genotypic study confirmed the presence of minor, 0 thalassemia and a% gene mutation, causing a new mutant HbA2 named HbA2 Pasteur-Tunis [%59 [E3] Lys [rightwards arrow] Asn [AAG [rightwards arrow] AAC]]. The presence of% mutant reduces HbA2 level and could hide beta thalassemia trait. Rigorous and methodical interpretation of phenotypic data is crucial to not overlook the presence of beta thalassemia trait, whose diagnosis is crucial for genetic counseling and prenatal diagnosis

9.
Tunisie Medicale [La]. 2010; 88 (5): 324-329
em Francês | IMEMR | ID: emr-108881

RESUMO

Growing interest is accorded to polyunsaturated fatty acids [PUFAs] 3, which are considered beneficial for health. To investigate the effect of sports on plasma lipids and fatty acids [FAs], especially 6 and 3 PUFAs and the 6/3 ratio. The study included 75 Tunisian male elite athletes, practicing team sport and 70 sedentary healthy men as controls. Plasma FAs profile was analyzed by gas chromatography. Comparison between groups was performed using a univariate GLM analysis, with adjustment on age, body mass and energy intake. Athletes showed lower triglycerides and saturated FAs [27.64% +/- 2.17% vs. 30.41% +/- 4.35%] and increased HDL cholesterol and monounsaturated FAs [21.19% +/- 2 44% vs. 19.12% +/- 3.03%]. However, there was no significant difference in total PUFAs, 6 and 3 families and 6/3 ratio [10.15% +/- 3.24% vs. 10.20% +/- 3.37%] between athletes and sedentary. Sport favorably modifies the profile of plasma FAs by increasing monounsaturated FAs at the expense of saturated FAs, but has no effect on total PUFAs, and 6 and 3 families. A diet rich in 3 PUFAs would lower the 6/3 ratio, in order to improve the health and probably the performance of athletes


Assuntos
Humanos , Masculino , Ácidos Graxos/sangue , Lipídeos/sangue , Ácidos Graxos Insaturados/sangue , Ácidos Graxos Ômega-3/sangue , Ácidos Graxos Ômega-6/sangue , Cromatografia Gasosa , Esportes
10.
Tunisie Medicale [La]. 2009; 87 (11): 782-785
em Inglês | IMEMR | ID: emr-134868

RESUMO

The mucopolysaccharidoses [MPS] are a devastating heterogenous group of lysosomal storage disorders. To evaluate the epidemiological profile of MPS in Tunisia Methods we conducted a retrospective epidemiological survey covering the period 1970-2005. Multiple sources were used to identify affected patients. Ninety six confirmed MPS cases were collected from 132 suspected cases found in the surveyed data. Of the ninety six confirmed cases. 20%were from multiplex families. Consanguinity was found in 83%of the families. The crude rate for all types of mucopolysaccharidoses was 2.3 cases in 100,000 live births. The prevalence of MPS type I, III and IV, those most frequently occurring in the collected data, were estimated at 0.63, 0.7 and 0.45 per 100.000 live births, respectively. The cumulative incidence of MPS type VI [0.3 per 105 live births] was higher than reported in European countries; but, it is likely that. The reported frequency of all types of MPS in Tunisia is underestimated


Assuntos
Humanos , Masculino , Feminino , Incidência , Mucopolissacaridoses/classificação , Estudos Retrospectivos , Estudos Epidemiológicos
11.
Tunisie Medicale [La]. 2009; 87 (2): 159-163
em Francês | IMEMR | ID: emr-92962

RESUMO

Thiamine responsive megaloblastic anemia syndrome is a rare autosomal recessive disorder defined by the occurrence of megaloblastic anemia, diabetes mellitus, and neurosensoriel deafness, responding in varying degrees to thiamine treatment. Report an unusual case of this rare disorder. We report the case of a four-year-old boy who presented unusual features of thiamine- responsive megaloblastic anemia. In addition to the typical triad of the syndrome, he presented leuconeutropenia, hepatosplenomegalia, cardiac abnormalities including absent P waves, mitral and tricuspid insufficiency, retinitis pigmentosa, nystagmus, developmental delay and a brain Magnetic resonance imaging ischemic lesion. Lactate levels in serum and the lactate/ pyruvate ratio were increased. The mitochondrial mutation m.3243A > G located in MTTL1 gene encoding for transfer RNA leucine [tRNALeu[UUR]] was not found. Treatment with thiamine resulted in normalisation of the haemoglobin level, white cell count, and glucose and lactate levels. On three years follow up, the patient did not need insulinotherapy. These data sign the crucial role that thiamine plays for many cells and tissues and its importance in the activity of the respiratory chain


Assuntos
Humanos , Masculino , Tiamina , /tratamento farmacológico , Perda Auditiva Neurossensorial/tratamento farmacológico , Doenças Mitocondriais , Imageamento por Ressonância Magnética
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