Non-Jewish Israeli IBD Patients Have Significantly Higher Glutathione S-Transferase <Emphasis Type="Italic">GSTT1</Emphasis>-Null Frequency

Background  

The involvement of oxidant/antioxidant imbalance in the development of inflammatory bowel disease (IBD) is well documented. Two members of the glutathione S-transferase (GST) family of enzymes, GSTM1 and GSTT1, known to take part in cellular protection against electrophiles, demonstrate common deletion variants (termed null) associated with impaired enzyme function.     

A huge cardiac hydatid cyst: An unusual cause of chest pain revealing multivisceral hydatidosis in a young woman

Hydatid disease remains endemic in some parts of the world. Cardiac hydatidosis with multivisceral involvement is uncommon but potentially fatal. We report the case of a 36-year-old Tunisian woman admitted with chest pain and T-wave inversion in the inferior leads on her electrocardiogram. Transthoracic echocardiography revealed a large hydatid cyst in the epicardium throughout the left ventricle. Thoraco-abdominal computerized tomography (CT) scan showed several hydatid cysts in the left lung, the liver, and in both breasts.After one week of albendazole treatment, surgical excision of the cardiac cyst on cardiopulmonary bypass was carried out as well as excision of the pulmonary and breast cysts. The postoperative course was uneventful and albendazole treatment was continued for six months. Though hydatid cardiac involvement is very rare, it should be considered in the differential diagnosis of atypical chest pain in young patients, especially those living in regions where hydatid disease is endemic.     

Association of Interleukin-1B and Interleukin-4 Gene Variants with Autoimmune Thyroid Diseases in Tunisian Population

Autoimmune thyroid diseases (AITD) including Graves’ disease (GD) and Hashimoto’s thyroiditis (HT) are complex genetic diseases. Cytokines IL-1B and IL-4 play a role in the pathogenesis of AITD. This study was conducted on Tunisian patients with GD or HT to investigate the association of IL-1B and IL-4 gene polymorphisms with the risk and the prognosis of AITD. A total of 358 healthy controls and 341 patients with AITDs (249 HT and 92 GD) were genotyped for IL-1B+3953C/T and IL-4 intron 3 VNTR polymorphisms. A significant association was found between IL-1B+3953C/T polymorphism and GD or HT, both in the dominant and additive models. The IL-1B+3953T allele was associated with GD (p = 0.0003, OR = 1.93, CI = 1.34-2.78) and HT (p = 0.009, OR = 1.43, CI = 1.09-1.88). The IL-4 VNTR polymorphism was associated only with HT risk both in additive (p = 0.03, OR = 0.31, CI = 0.11-0.86) and recessive (p = 0.03, OR = 3.04, CI = 1.13-8.17) models. No significant association was found between IL-1B+3953C/T polymorphism and change in the serum concentrations of TSH and FT4 in GD and HT patients. In HT patients, the IL-1B+3953T allele (p = 0.009, OR = 0.42, CI = 0.22-0.83) and the IL-1B+3953T/T genotype (p = 0.03, OR = 0.21, CI = 0.04-1.07) were more frequent in the absence than in the presence of an anti-TPO antibody. The proportion of HT patients with the P1P2 genotype of the IL-4 gene was significantly higher in the absence than in the presence of the anti-TPO antibody (p = 0.04, OR = 0.39, CI = 0.17-0.89). These preliminary results suggest that IL-1B and IL-4 gene polymorphisms may be associated with GD and HT susceptibility and may represent prognostic factors for predicting the severity of HT.     

Aberrant expression of CD5 in a case of B acute lymphoblastic leukemiapositive Philadelphia chromosome

Introduction: B acute lymphoblastic leukaemia (B-ALL) is a proliferation of hematopoietic precursor cells characterized by the expression of various B-cell antigens. Expression of T cell antigens has rarely been reported in B-ALL. We report the second case CD5+ (Cluster of differentiation 5) B-ALL associated with Philadelphia chromosome (Phi+) Observation: A 38-year old male presented with anorexia and generalized weakness for the last ten days. Hemogram revealed bicytopenia and hyperleukocytosis made of 93% difficult to classify cells. A diagnosis of diffuse large B-cell lymphoma was suspected. An immunophenotyping on peripheral blood was performed. The panel for B- cell lineage chronic lymphoproliferative disorders (B-CLPD) was used. The dim expression of CD45 and the lack of surface immunoglobuline helped to exclude a CD5 expressing mature B cell neoplasm. Then, the diagnosis of ALL was confirmed by ALL panels. Karyotype showed a Phi+. Thus, a diagnosis of B-ALL with aberrant expression of CD5 and Phi+ was established. The patient received chemotherapy according to the modified group for research on adult acute lymphoblastic leukemia philadelphia positive 2005 protocol (GRAAPH 2005). A complete remission at the end of induction was obtained. The patient received consolidation and then, hematopoietic stem cell transplantation. The patient is in complete hematological remission till the date of submission of this report. Conclusion: Aberrant expression of CD5 associated with Phi+ has rarely been reported in B cell lineage ALL and having a poor prognosis. Pathologists and clinicians should be aware of this entity to avoid confusion with other tumors.     

Estimation of Recent and Ancient Inbreeding in a Small Endogamous Tunisian Community Through Genomic Runs of Homozygosity

Runs of homozygosity (ROHs) are extended genomic regions of homozygous genotypes that record populations’ mating patterns in the past. We performed microarray genotyping on 15 individuals from a small isolated Tunisian community. We estimated the individual and population genome‐wide level of homozygosity from data on ROH above 0.5 Mb in length. We found a high average number of ROH per individual (48.2). The smallest ROH category (0.5–1.49 Mb) represents 0.93% of the whole genome, while medium‐size (1.5‐4.99 Mb) and long‐size ROH (≥5 Mb) cover 1.18% and 0.95%, respectively. We found that genealogical individual inbreeding coefficients (F_ped) based on three‐ to four‐generation pedigrees are not reliable indicators of the current proportion of genome‐wide homozygosity inferred from ROH (F_ROH) either for 0.5 or 1.5 Mb ROH length thresholds, while identity‐by‐descent sharing is a function of shared coancestry. This study emphasizes the effect of reproductive isolation and a prolonged practice of consanguinity that limits the genetic heterogeneity. It also provides evidence of both recent and ancient parental relatedness contribution to the current level of genome‐wide homozygosity in the studied population. These findings may be useful for evaluation of long‐term effects of inbreeding on human health and for future applications of ROHs in identifying recessive susceptibility genes.     

Rituximab-induced interstitial lung disease: case report and literature review

Rituximab, a chimeric monoclonal antibody against CD20, very rarely causes lung toxicity. Toxicity may present as interstitial lung disease, alveolar hemorrhage and adult respiratory distress syndrome. Sixteen cases of rituximab-induced interstitial lung disease (R-ILD) have been reported. With this case and a review of all other cases reported in the literature, we will try to identify the features of R-ILD, its treatment and why the early diagnosis of this complication is important.