Screening for celiac disease,by endomysial antibodies,in patients with unexplained articular manifestations

Celiac disease (CD) is an autoimmune systemic disease characterized by not only gastrointestinal but also extraintestinal manifestations. The aim of our study was to do a serological screening for CD, by IgA endomysial antibodies (EmA), in patients with unexplained articular manifestations. Two hundred and eleven patients suffering from arthritis or arthralgia without evident cause were studied. EmA were determined by indirect immunofluorescence on human umbilical cord. Two thousand and five hundred blood donors served as control group. Out of 211 patients, 5 had EmA (2.37 %). The frequency of EmA in our patients was significantly higher than in the control group (2.37 vs. 0.28 %, p < 0.01). All patients with positive EmA were female. EmA were significantly more frequent in female patients than in female healthy subjects (3 vs. 0.4 %, p < 0.01). Medical records revealed: diarrhea (one patient), short size (one patient), anemia (three patients), weight loss (two patients) spontaneous abortion (three patients), secondary amenorrhea (one patient), early menopause (one patient) and early baby death (one patient). Biochemical analysis showed decreased level of calcium (one patient), vitamin D (one patient) and cholesterol (one patient). Unexplained liver cytolysis was observed in two patients. Radiological examination showed demineralization of two hands in one patient. Bone osteodensitometry done in one patient out of five revealed lumbar osteopenia. The articular manifestations of the five patients did not respond to corticosteroid treatment. CD must be considered among the differential diagnosis in a patient with arthritis or arthralgia.     

Cognitive Impairment Among Tunisian Bipolar Patients: a Case-Control Study

Psychiatric Quarterly - Studies exploring the cognitive performance of bipolar patients have mainly been conducted in Western countries. To our knowledge, no surveys have been reported to date in...     

Structure properties and dielectric relaxation of Ca0.1Na0.9Ti0.1Nb0.9O3 ceramic

In this paper, the synthesis of Ca_0.1Na_0.9Ti_0.1Nb_0.9O₃ (CNTN) ceramic by a solid-state reaction method is reported. The results of Rietveld refinement of X-ray diffraction (XRD) patterns at room temperature showed a pure tetragonal perovskite (P4mm space group). Raman spectroscopy analysis, ranging from of 50 to 1000 cm⁻¹, at room temperature, validates the results of XRD. The dielectric properties was studied by complex impedance spectroscopy examined in broad frequency range, 100 Hz to 200 kHz, at different temperatures. The dielectric permittivity for our CNTN compound confirms the typical relaxor behavior. The investigation of the diffuseness of the transition was conducted by fitting the experimental data with modified Curie–Weiss law; Gaussian distribution and Power law confirm the presence of a short-range association between the polar nanoregions (PNRs). The obtained values of the diffuseness coefficient are of the order 1.6, which corresponds to the diffuse phase transition (DPT) ascribed to the existence of various states of polarization, thus various relaxation times in different regions. The value of diffuseness is of the order 85 and the degree of relaxor (ΔT_cm = 65 K) is interesting as far as microelectric applications are concerned. Moreover, based on the frequency dependence of temperature at dielectric maxima using Vogel–Fulcher relationship, a strong evidence for a static freezing temperature with regards to thermally-activated polarization fluctuations was found.

In this paper, the synthesis of Ca_0.1Na_0.9Ti_0.1Nb_0.9O₃ (CNTN) ceramic by a solid-state reaction is reported. The results of Rietveld refinement of X-ray diffraction patterns at room temperature showed a pure tetragonal perovskite (P4mm space group).     

West syndrome associated with Down syndrome: Case report and literature review

West syndrome is the most frequent cause of epilepsy in Down syndrome. West syndrome is often associated with poor long-term prognosis in most of children. We report a girl with West syndrome associated with Down syndrome which occurred at 8 months of age for repetitive flexor spasms and electroencephalography (EEG) showed hypsarrhythmia. She had Down syndrome facies, microcephaly, psychomotor development delay and axial hypotonia. Computed tomography of the brain was normal. Her karyotype was 47, XX, +21. Phenobarbital therapy was immediately effective with good clinical control of seizures, while the EEG monitored after one month was unchanged. At 2 years of age, the patient had hypertonic status epilepticus following a lung infection. The EEG showed a persistence of hypsarrhythmia. Sodium valproate and hydrocortisone therapy was effective with good seizure control but her psychomotor development was severely impaired. After a follow-up of 7 years, the patient presents growth retardation, microcephaly, severe psychomotor development delay, generalized hypotonia and tetraparesis. Knowledge of West syndrome in Down syndrome allows the early detection and prompt management of this neurological complication in order to optimize psychomotor development and improve the quality of life of these children.     

EpCAM (MOC-31) – immunohistochemical expression in papillary thyroid carcinoma and non invasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP)

Introduction : Ep-CAM, is a cell adhesion glycoprotein located on the basolateral cell membrane surface and in the cytoplasm of most normal epithelial cells. It has also been described to be expressed in several malignancies such as lung, digestive, prostate and renal carcinomas suggesting it has a potential role in carcinogenesis. In thyroid carcinoma, Ep-CAM expression has rarely been studied especially in papillary thyroid carcinoma. Objective: We sought to describe and compare the immunohistochemical expression of MOC31 in papillary thyroid carcinoma and in non invasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP). Methods: We have retrospectively collected 33 cases of PTC diagnosed in the pathology department of the Security forces hospital during a period of 13 years (2008–2021). We have microscopically reviewed all cases and reclassified 9 of 33 cases as NIFTP. An immunohistochemical automated study have been performed with MOC-31 antibody. The immunostaining was considered positive when it was membranous and/or cytoplasmic. The intensity of staining was scored as weak (score 1), moderate (score 2), and strong (score 3). We have used an immunoscore for assessing level of expression of MOC31 as follows: 0 for <5% of positive cells, 1 for 5-30%, 2 for 31-50%, 3 for 51-70%.The total score resulted by summing the percentage score with the intensity score; the final score was varying from 0 to 7, considered low between 1-4 and high 5–7. Results: The mean age of patients was 45,2 years-old for PTC cases and 48,1 years-old for NIFTP cases. A net female predominance was found in both groups (male to female ratio of respectively 0,4 and 0,3). MOC31 expression was found in 19 cases of PTC with a percentage of positive cells varying from 5 to 90%. Percentage of positive cells was variable from 5 to 90%. The immunoscore for positive cells was: 0 in 5/24cases, 1 in 4/24cases, 3 in 9/24cases and 4 in 6/24cases. The intensity of staining was assessed score2 (moderate) in 8 cases and score 3 (high) in 7cases (Figure 1, Figure 2 ). Final MOC31 staining score was low in 37,5% (9/24) and high in 62.5% (15/24). Patients with advanced pt2-pt3 stages mostly showed high score of MOC31 staining (61,5%).One case was associated with lymph node involvement and was of a high score. 6 cases showed vascular invasion and was of high MOC31 score. MOC31 was expressed in all NIFTP cases with variable proportion of positive cells (5%-80%). The immunoscore for positive cells was: 0 in 1/9cases, 1 in 2/9cases, 2 in 3/9cases, 3 in 1/9cases and 4 in 2/9cases. The intensity of staining was assessed score 1 (weak) in one case, score 2 (moderate) in 6 cases and score 3 (high) in one case (Figure 3, Figure 4 ). The final combined score was low in 66,7 (6/9) and high in 33,3% (3/9).Open in a separate windowIHC X 40: Score 3 intense and circumferential membranous staining of PTC for MOC31.Open in a separate windowIHC X 40: Score 2 moderate and circumferential membranous staining of PTC for MOC31.Open in a separate windowr 3. IHC X 40: Score 2 moderate and circumferential membranous staining of NIFTP for MOC31.Open in a separate windowIHC X 20: Score 1 membranous staining of NIFTP for MOC31. Conclusion: Our study revealed different immunohistochemical profile of MOC31 in benign and malignant tumors. It has somewhat a diffuse and marked staining in the first group. The changes of MOC31 location as well as its score of staining in PTC and NIFTP could hence be helpful in the differential diagnosis. Our findings also support the potential prognostic value of this molecule that deserves further investigations.     

Frequency of serological markers of rheumatoid arthritis in adult patients with active celiac disease

BackgroundCeliac disease (CD) and rheumatoid arthritis (RA) are multisystem autoimmune diseases affecting 1% of general populationa. Both diseases share genetic and immunological features.AimIn this retrospective study, we aim to determine the frequency of auto‐antibodies of RA in adult patients with CD.Materials and methodsSeventy seven adult patients with active CD were included in the present study. Ninety healthy blood donors (HBD) served as control group. Anti‐cyclic citrullinated peptides antibodies (CCP‐Ab) and rheumatoid factors (RF; IgA, IgG and IgM) were determined by enzyme linked immunosorbent assay (ELISA) for patients and control group. For statistical analysis, we used Chi‐square or Fisher''s exact test.ResultsOur study included 77 adult patients with active celiac disease (57 female, 20 male). Twenty‐four (31.2%) active celiac patients and 7 (7.8%) blood donors had CCP‐Ab or RF (31.2% vs 7.8%, p < 10–4). Only two patients (2.6%) had both CCP‐Ab and RF. IgA was the predominant isotype of RF in celiac patients (n = 18; 23.4%) while none of healthy blood donors had RF‐IgA (23.4% vs 0.0%, p < 10–4).ConclusionThe current study has shown that CD is associated with a high frequency of RF‐IgA suggesting that celiac patients could be at a higher risk of developing RA.     

Enterococcus faecalis: a multicenter study on antibiotic resistance]

676 E. faecalis strains were listed over a period of 2 years from the Charles Nicolle hospital of Tunis (167 strains), the Habib Bourguiba hospital of Sfax (350 strains) and the National Centre of Bone marrow Transplantation of Tunis (159 strains). Antibiotic sensibility study was realized by the method of the antibiogram, E-test method and the search of penicillinase by cefinase. E. faecalis resulted essentially from services of onco-haematology (24%), external consultations (23%), surgery (18%) and medicine (15%). These strains were isolated especially from urines (54%), coprocultures (15%), bloodcultures (11%) and from pus (9%). Resistance acquired with these strains is raised for erythromycin, tetracyclin and chloramphenicol (81% to 86%), followed by high level resistance to gentamicine (37%). 0.1% of E. faecalis strains have a low level resistance to amoxicillin without production of penicillinase. No resistance to vancomycin was observed.     

Familial form of typical childhood absence epilepsy in a consanguineous context

Causative genes for childhood absence epilepsy (CAE) are unknown partly because families are small or phenotypically heterogeneous. In five consanguineous Tunisian families with at least two sibs with CAE, 14 patients fulfilled the diagnostic criteria for CAE (Epilepsia 1989;30:389–399). Linkage analyses or direct sequencing excluded CACNG2, CACNA1A, CACNB4, and CACNA2D2, orthologs of genes responsible for autosomal recessive (AR) absence seizures in mice. These families will help identify (a) gene(s) responsible for CAE.     

Re-assigning the DFNB33 locus to chromosome 10p11.23-q21.1

Homozygosity mapping is a powerful resource for mapping and identifying loci and genes responsible for autosomal recessive disorders. Nevertheless, it could result in the identification of several homozygous regions unrelated to the disease locus or non-informative regions. Previously, a genome-wide screen in a large consanguineous Jordanian family allowed us to assign the DFNB33 locus to chromosome 9q34.3. Sequencing of 23 candidate genes showed 11 SNPs in a heterozygous state in affected individuals. These results ruled out the candidate region on chromosome 9. Using additional markers, we were able to restrict the disease locus to an approximately 14 cM region at chromosome 10, located between markers D10S193 and D10S1784. A maximum LOD score of 3.99 was obtained with two markers, D10S199 and D10S220. The screening of two candidate genes, CX40.1 and FXYD4, failed to reveal any disease-causing mutations.