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Biomedical subjects

M T Sfar

Publications and source records attributed to M T Sfar.

At least 19 recordsLinked to original sources
PubMed2005

Tissue transglutaminase antibodies in celiac disease, comparison of an enzyme linked immunosorbent assay and a dot blot assay.

AIMS: The purpose of our study is to determine the sensitivity, specificity and predictive values of an enzyme linked immunosorbent assay (ELISA) and a dot blot assay for the detection of IgA class anti-tissue transglutaminase antibodies (IgA-AtTGA) and to compare these results with those of IgA class anti-endomysium antibodies (IgA-AEA), IgA class anti-reticulin antibodies (IgA-ARA) and IgA class anti-gliadin antibodies (IgA-AGA). PATIENTS: Serum samples from 143 patients (97 children, 46 adults) with untreated celiac disease (CD) confirmed by intestinal biopsy and 74 disease controls (64 children, 10 adults) were studied. Methods. - The anti-tissue transglutaminase antibodies were detected by dot blot assay and an ELISA using guinea pig tissue transglutaminase (gp-tTG) as antigen. The anti-endomysium antibodies were detected by an indirect immunofluorescence technique on cryostat sections of human umbilical cord. The anti-reticulin antibodies were also investigated by indirect immunofluorescence on cryostat sections of kidney, liver and stomach of rat. The anti-gliadin antibodies were determined by an ELISA. RESULTS: The sensitivity of an ELISA for the detection of anti-tissue transglutaminase antibodies was 86% in children and 87% in adults and the sensitivity of dot blot assay was 57% in children and 54% in adults. The specificity of an ELISA and dot blot for the detection for anti-tissue transglutaminase antibodies was, respectively, 96% and 88% lower than that of anti-endomysium antibodies (100%). The sensitivity of anti-gliadin antibodies was 97% in children and 91% in adults and their specificity was 85%. The sensitivity of anti-reticulin antibodies was 94% in children and 87% in adults. Their specificity was 100%. CONCLUSIONS: The sensitivity and specificity of an ELISA for the detection of anti-tissue transglutaminase antibodies were better than that of dot blot assay. However, this dot blot assay could screen four celiac patients who have not had anti-tissue transglutaminase antibodies by an ELISA. The sensitivity of anti-endomysium antibodies was better than that of anti-tissue transglutaminase antibodies, anti-reticulin antibodies and anti-gliadin antibodies but in children aged less than 2 years, the sensitivity of anti-gliadin antibodies was better than that of anti-tissue transglutaminase antibodies.

Adolescent↗
PubMed2003

[HPA-5b neonatal allo-immune thrombocytopenia: two cases described in Tunisia].

UNLABELLED: Alloimmune thrombocytopenia is due to feto-maternal incompatibility in the HPA systems and is usually considered in the diagnosis of neonatal thrombocytopenia after other causes have been excluded. We report on two Tunisian observations of alloimmune neonatal thrombocytopenia due to anti-HPA-5b (Bra) antibodies. CASE REPORT: Two neonates presented at birth with a thrombocytopenic purpura unexplained by usual causes of neonatal thrombocytopenia. Alloimmune neonatal thrombocytopenia was diagnosed by the determination of parental and neonatal platelets antigens phenotypes and by the presence of HPA-5b (antiBra) antibodies in maternal sera. A favourable evolution was obtained after maternal platelet transfusions. CONCLUSION: Alloimmune neonatal thrombocytopenia is a serious affection, which exposes to intracranial haemorrhage. These observations of HPA-5 neonatal alloimmunisation in Tunisia provide additional information on the geographic distribution of the disease and its prognosis.

Antigens, Human Platelet↗
PubMed2001

[Anti-endomysium, anti-reticulin and anti-gliadin antibodies, value in the diagnosis of celiac disease in the child].

Coeliac disease is associated with gluten intolerance in genetically predisposed subjects. Environmental factors, particularly of viral origin, may also play a major role. In this study, the presence of IgA class anti-endomysium antibodies (AEA-IgA), IgA class anti-reticulin antibodies (ARA-IgA) and IgA class anti-gliadin antibodies (AGA-IgA) was investigated in 120 serum samples from 120 children (60 patients with coeliac disease and 60 control subjects). The AEA were detected by indirect immunofluorescence on sections of human umbilical cord. The ARA were also investigated by the same technique in rat kidney, liver and stomach. The AGA were determined by an enzyme-linked immunosorbent assay (ELISA). In the patients with coeliac disease, the sensitivity of AEA and ARA was 86% and 76% respectively. In both cases, the specificity was 100%. In children below two years of age, the sensitivity of AEA and ARA was too low, i.e., 57% and 35% respectively. In children aged between two and 15 years, the sensitivity of AEA and ARA was 95% and 89% respectively. The sensitivity of IgA class AGA was 86%, and their specificity was 83%. In this study population, these results show that IgA class AEA are interesting markers for the diagnosis of coeliac disease in the child, and could be used in screening for coeliac disease in a high-risk population.

Adolescent↗
PubMed2001

[Prevalence and risk factors of diabetic retinopathy in children and young adults].

BACKGROUND: Diabetic retinopathy (DR) is a severe complication of diabetic microangiopathy. The prevalence is low in children and increases with patient age and duration of diabetes. PATIENTS AND METHODS: Full ophthalmologic examination was completed by fluorescein angiography in 36 diabetic patients diagnosed in childhood, with duration of diabetes more than 5 years. RESULTS: After 5 years of diabetes, 44% of the patients had DR. Background retinopathy was found in 31%, preproliferative retinopathy in 5% and proliferative retinopathy in 8% of cases. DR was associated with diabetic maculopathy in 8 patients and cataract in 4 patients. DR was correlated with the age of patients at diagnosis of diabetes, time of ophthalmologic examination, sex, duration and balance of diabetes. CONCLUSION: The frequency of DR increases with the duration and the imbalance of diabetes. The importance of well balanced diabetes and regular ophthalmologic examination were necessary to decrease the frequency of DR.

Adolescent↗
PubMed2001

Association of severe autosomal recessive osteopetrosis and Dandy-Walker syndrome with agenesis of the corpus callosum.

A severe form of autosomal recessive osteopetrosis associated with Dandy-Walker syndrome and agenesis of the corpus callosum is reported in a full-term boy born to consanguineous parents. The diagnosis was made shortly after birth. Clinical features were cranio-facial dysmorphy, macrocephaly, hepatosplenomegaly, severe anemia and thrombocytopenia. Skeletal radiographs revealed generalized increase in bone density and abnormal metaphyseal remodeling. Cranial ultrasonogram and computed tomography scan showed Dandy-Walker syndrome, agenesis of corpus callosum and hydrocephalus. The patient rapidly developed severe medullary deficiency and a severe pulmonary infection. He died at the age of 2 months. This association seems extremely rare and was not previously reported in the literature.

Abnormalities, Multiple↗
PubMed2000

[Neonatal hemoperitoneum].

PATIENTS AND RESULTS: A series of four cases observed in the department of pediatric surgery in Monastir between 1990 and 1998 are reported. The diagnosis was made in the two first days of life. The clinical features associated paleness, shock and abdominal distension. Ultrasonography revealed that the hemoperitoneum was associated with liver hematoma in three cases and with retroperitoneal hematoma in two cases. Three infants required emergency hemostatic laparotomy. The fourth was stabilized by initial resuscitation. One infant died at the age of six months following subarachnoid hemorrhage and subdural hematoma. No complication occurred in the three remaining patients. CONCLUSION: The pathogeny, clinical features and treatment of the hemoperitoneum in the newborn are discussed. The authors stress preventive measures, the only way to decrease the incidence of this neonatal complaint.

Hematoma↗
PubMed2000

[Primary vesicoureteral reflux: report of 100 pediatric observations].

In this study, the authors have reported 100 cases of primary vesico-ureteral reflux (VUR) which occurred over a 7-year period. Patient age at presentation ranged from 1 month to 13 years, with a mean age of 3 years and 5 months. Overall, a higher rate of reflux was observed in the female population (63%) which was particularly evident after the age of 3 years, but with a male predominance during the first 12 months of life. In the majority of cases, the diagnosis of VUR was made following diagnosis and investigation of urinary infection (UI). A high level of UI was the most frequent sign of VUR (87% of cases), while in 6% of cases this disorder was diagnosed during the investigation of an uropathy which was found to be complex in all subjects. An analysis of 143 ureteral reflux units (URU) showed that VUR was pathological only in 17% of cases, and that the reflux grade was I, II, III and IV in 47.4, 28.14, 11.11 and 2.34% of cases respectively. DMSA scintigraphy in 38 patients showed signs of nephropathy in 24 cases, i.e., 14 scars and a decrease in kidney size in 9 cases, and an absence of fixation for one grade IV reflux. Forty subjects with 56 reflux units (34 grade I, II and 22 grade III, IV) were treated by antibiotic prophylaxis, with a positive outcome in 85% of cases in children under 2 years of age, compared to 40% for children aged over 2 years. Only 7 patients were treated by teflon endoscopic injection, and in one case a further injection was required; 21 patients with 30 reflux units were treated by surgery at a mean age of 4 years. In conclusion, VUR is a fairly common disorder, which is frequently detected via an IU; its potential gravity is associated with the risk of subsequent nephropathy.

Adolescent↗
PubMed1999

A repeat polymorphism in interleukin-4 gene is highly associated with specific clinical phenotypes of asthma.

BACKGROUND: IL-4 is a determining factor in immunologic mechanisms to allergy and inflammation. The authors designed a case-controlled study to investigate the potential association of a repeat polymorphism in IL-4 gene with specific clinical phenotypes of asthma. METHODS: The authors used the polymerase chain reaction to characterize the variation of the IL-4 intron 2 region in 145 unrelated Tunisian patients with asthma and 160 healthy control subjects. In order to strengthen the case-controlled study, analysis of IL-4 polymorphism was performed in families of several asthmatic patients. Asthma scores were determined and correlated with this polymorphism. RESULTS: Analysis of IL-4 polymorphism in patients with allergic asthma and in control subjects demonstrated a significant association between the IL-4 A1 allele and asthma. Further evidence of the strong association found between IL-4 intron 2 polymorphism and asthma was provided by the finding that asthma is transmitted in association with the inheritance of the IL-4 A1 marker. When patients were stratified into two groups according to the degree of the severity of asthma, the IL-4 A1 allele was specifically not associated with mild asthma, but highly associated with the moderate and severe forms of the disease. The relative risk (RR) of severe asthma is especially high in patients carrying the A1/A3 genotype (RR = 3.94, p = 0.0001). Conversely, a major decrease in the frequency of the IL-4 A3/A3 genotype was observed in patients with severe asthma, resulting in a significantly negative RR of this clinical phenotype of asthma (RR = 0.165, p = 0.0001). CONCLUSIONS: Tunisian persons carrying the IL-4 A1/A3 genotype may have an increased risk of severe asthma.

Adolescent↗
PubMed1994

[A rare cause of rectal hemorrhage in children: rectal angiodysplasia].

BACKGROUND: Parietal vascular malformations of the intestinal tract are rare and their diagnosis is often difficult. CASE REPORT: A 2 year-old boy had suffered from intermittent rectal bleeding since the age of one year. Endoscopic examination showed unspecific congestive changes and biopsy showed features of chronic inflammatory changes in the rectum. Barium enema was normal. The patient was operated on, but surgery failed to find any cause for these hemorrhages. Rectal bleedings recurred, some of them resulting in severe anemia. Two further endoscopic examination were grossly negative as was inferior mesenteric arteriography. Spontaneous rectal prolapsus occurred when the boy was 4 years old. This allowed resection of all the submucosal veins of the anal canal; it was followed by complete cessation of rectal bleeding with a follow-up of 36 months. Histological examination showed several ectasias of the capillaries and veins in the submucosa and muscular layers. CONCLUSION: Angiectases can occur in a small part of the intestinal tract, and can escape detection by repeated specialized investigation.

Arteriovenous Malformations↗
PubMed1994

[Brachyolmia at autosomal recessive transmission].

BACKGROUND: Brachyolmia is a form of spondylodysplasia; sufferers have a short stature limited to the trunk that is recessively inherited. There may be other minor abnormalities in some cases. CASE REPORTs. Four brothers, born to consanguineous normal parents, developed short stature and scoliosis that were only identified after the age of 5 years (from 8 to 14 years). The three oldest patients had facial anomalies with flattened mid-face and enlarged lips. X-rays showed scoliosis, universal platyspondyly, irregular iliac crests and short, enlarged femoral necks. CONCLUSION: Evidence of abnormalities in other areas than the spine confirms the heterogeneity for the disease.

Adolescent↗
PubMed1993

[Imerslund-Najman-Grasbeck anemia. Apropos of a case].

Imerslund-Najman-Grasbeck disease is a rare inherited megaloblastic anaemia secondary to a selective malabsorption of vitamin B12 by ileal enterocytes. The authors report on a 4 year-old tunisian girl who presented as visceral infantile leishmaniasis because of huge splenomegaly and major anaemia. The diagnosis of Imerslund disease was performed on the basis of the association of typical megaloblastic cells in the marrow, permanent proteinuria and favourable outcome under parenteral B12 administration. In addition, ther were no folate deficiency, no anti-intrinsic factor antibodies and no intrinsic factor deficiency. The outcome of the disease is always favourable if parenteral administration of vitamin B12 maintained.

Anemia, Megaloblastic↗
PubMed1993

[Histiocytosis X and sclerosing cholangitis].

The case of a seven-year-old with multifocal (type II) Langheran's cell histiocytosis since the age of two years is reported. Despite therapy, biliary cirrhosis with portal hypertension developed gradually. Histologic studies of liver biopsy specimens, computed tomography, and transhepatic cholangiography disclosed dilatation of the bile ducts, suggesting sclerosing cholangitis, a specific complication of Langherans' cell histiocytosis which precipitates the development of biliary cirrhosis.

Biopsy↗
PubMed1993

[Osteogenesis imperfecta with hypertrophic callus. Apropos of 2 cases with early onset].

BACKGROUND: The callus that forms at the site of recent fractures in patients with osteogenesis imperfecta is usually normal, but hyperplastic callus may develop. CASE REPORTS: Case 1. A hyperplastic callus with local inflammation developed at the site of a fracture of the left thigh of a boy, aged 11 months suffering from osteogenesis imperfecta. This disease was characterized by the progressive development of broad limbs, bone islands on skull x-rays and blue sclerae. He had also had fractures at the ages of 4 and 7 months. Follow-up showed that this boy, now aged 15 years, had several fractures with the development of similar hyperplastic calluses. These limitated joint motility, causing him to remain confined to his bed. Case 2. This girl of consanguineous parents had a fracture of the femora at the age of 1 month; she had blue sclerae and developed a hyperplastic callus. The roentgenographic studies showed generalized osteopenia and deformities indicating osteogenesis imperfecta. CONCLUSION: Hyperplastic callus may develop in osteogenesis imperfecta. Its diagnosis may be difficult with neoplasms of bone, such as osteosarcoma, and its treatment is difficult.

Bony Callus↗
PubMed1992

[Cirrhosis and cirrhogenic diseases in Tunisian children. Multicenter study of 65 cases].

Over a period of 10 years, 65 cases of hepatic cirrhosis and cirrhogenic disease have been observed in five Pediatric Centers in mid Tunisia. The age of the patients ranged from 30 days to 14 years. The main etiology was biliary cirrhosis (24 cases) followed by post-hepatic cirrhosis (15 cases). Eight cases had a metabolic origin, which was Wilson's diseases in five cases. Three children had cirrhosis of a pre-hepatic origin. In 15 children, the liver biopsy showed the presence of cirrhosis but the etiology could not be found. Preventive measures are needed in order to reduce the frequency of cirrhosis among Tunisian children: 1) early recognition of biliary atresia, 2) vaccination against hepatitis B virus of at risk neonates and children, 3) Genetic counselling and search for familial cases when cirrhosis of metabolic origin is identified, particularly Wilson's disease.

Adolescent↗
PubMed1992

[Infantile cystinosis. A new Tunisian case].

A case of cystinosis in a three and a half-year-old is reported. Suggestive manifestations included severe rickets, small stature, and complex renal tubule dysfunction meeting the criteria for secondary Fanconi syndrome. Diagnosis was established by the discovery of retinal lesions upon ophtalmologic evaluation and, above all, by the finding that intracellular leukocyte cystine levels were increased to 16 mumol of 1/2 cystine per gram protein. Cystinosis is severe because it inevitably leads to renal failure. Much hope is currently placed in the use of cysteamine to delay this and other complications. At present, early antenatal diagnosis during the first ten weeks of pregnancy is needed in high-risk families to allow elective termination of pregnancy within the legal time limit.

Child, Preschool↗