Autistic disorder and 22q11.2 duplication.

Although several reports have described the co-occurrence of autism in subjects with chromosome 22 abnormalities including trisomy 22, translocation 20/22, 22q11.2 deletion, ring chromosome 22, and 22q13.3 deletion, there is no report with 22q11.2 duplication. We report a 9-year-old girl, referred to our department for her behavioural problems and language delay. She was diagnosed with autistic disorder according to DSM-IV criteria. Because of her dysmorphic characteristics comprising narrow face, narrow forehead, mandibular prognathism, synophrys, and operated cleft palate and cardiac problems, she had gone under cytogenetic analysis. Although she was ascertained as suspected velocardiofacial syndrome (VCFS), the duplication of 22q11.2 was detected by interphase fluorescence in situ hybridization. Previous reports on the psychiatric aspects of 22q11.2 duplication have shown the existence of hyperactivity, learning disability, speech problems, and aggressive behaviours but not autism. Moreover, the lack of reports of co-occurrence of autism and 22q11.2 duplication may be related to paucity as a result of technical problems.     

Hepatitis C virus reactivation in cancer patients in the era of targeted therapies

The purpose of this review is to summarize the evidence of hepatitis C reactivation in cancer patients in the era of targeted therapies.Targeted therapies are novel therapeutics frequently used in cancer patients.During treatment with targeted therapies,viral replication is one of the major problems that can occur.The PubMed database,ASCO,and ASCO Gastrointestinal Cancer Symposium abstracts were searched up until September 15,2013 using the following search keywords:"targeted therapies,rituximab,alemtuzumab,brentuximab,hepatitis,hepatitis C reactivation,tyrosine kinase inhibitors,imatinib,mammalian target of rapamycin(mTOR)inhibitors,everolimus,anti-HER therapies,trastuzumab,pertuzumab,lapatinib,antiepidermal growth factor receptor therapies,cetuximab,panitumumab,and ipilimumab".Papers considered relevant for the aim of this review were selected by the authors.The data about rituximab-induced hepatic flare in hepatitis C virus(HCV)positive patients is controver-sial.However,there is the possibility of life-threatening hepatic flare that can develop after HCV ribonucleic acid(HCV-RNA)viral load increases.Routine followup of liver function tests should be advised.Especially in high-risk patients,such as those with baseline chronic active hepatitis and cirrhosis,and where there are plans to administer rituximab concomitantly with corticosteroids,it is advised to have close follow-up of HCV viral load.The data is insufficient to make accurate statements about the association of alemtuzumab therapy and HCV reactivation.However,alemtuzumab may cause deep immunosuppression.Due to this,it is better to follow up with liver function tests and HCV RNA levels during alemtuzumab therapy.Brentuximab has effects on antibody dependent cellular toxicity and may decrease humoral immunity.Thus,we believe that during brentuximab treatment of HCV infected patients,clinicians may encounter hepatitis C reactivation.There have been no reported cases of hepatitis C reactivation with imatinib therapy.However,there are many reports of hepatitis B reactivation with imatinib treatment.Based on the evidence of hepatitis B reactivation with imatinib and the effects of imatinib on immune system functions,we suggest that imatinib therapy might be a risk factor for HCV reactivation.Anti-human epidermal growth factor receptor 2 therapies are not associated with hepatic flare in HCV infected patients.Post-transplant studies reported that mTOR was safely administered to patients with active hepatitis C without causing hepatic flare.Cetuximab and panitumumab have not been associated with HCV reactivation.Two cases of HCV infected melanoma were safely treated with ipilimumab without any HCV reactivation or hepatic flare.Targeted therapies are a new and emerging area of oncology treatment modalities.While treating HCV infected cancer patients,clinicians should be mindful of the immunosuppressive properties of targeted therapies.Further randomized trials are needed to establish algorithms for this issue.     

Effects of psychosocial and individual psychological factors on the onset of musculoskeletal pain: common and site-specific effects

OBJECTIVE: To determine whether adverse psychosocial and individual psychological factors increase the risk of pain across regional sites. METHODS: A prospective study was conducted of newly employed workers from 12 diverse occupational groups. Near to the beginning of subjects' employment, details of work related psychosocial factors and individual psychological distress were obtained by means of a self completed questionnaire. Questionnaire follow up after 12 months provided data on these same exposures and ascertained pain at any of four anatomical sites: the low back, shoulder, wrist/forearm, and knee. RESULTS: Of the original 1081 subjects, 829 (77%) provided full details at the one year follow up. Psychosocial work demands and high levels of individual psychological distress were found to have a common effect across sites. Psychological distress was associated with a doubling of the risk of reported pain (odds ratio = 2.1, 95% confidence interval 1.6 to 2.7), while aspects of job demand, poor support from colleagues, and work dissatisfaction were all associated with increased odds of reported pain onset of between 1.4 and 1.7. These effects were almost all common across the four regional pain sites. CONCLUSIONS: In cohorts of newly employed workers, certain work related psychosocial factors and individual psychological distress are associated with the subsequent reporting of musculoskeletal pain, and generally this effect is common across anatomical sites.     

B-cell lymphoma after angioimmunoblastic lymphadenopathy: a case with oligoclonal gene rearrangements associated with Epstein-Barr virus

We describe a patient with angioimmunoblastic lymphadenopathy with dysproteinemia (AILD), who subsequently developed large-cell immunoblastic lymphoma of B-cell immunophenotype. At the time of the initial diagnosis, histologic examination of an inguinal lymph node showed typical features of AILD, and there was no evidence of a monoclonal B-cell population by immunohistochemical analysis. In situ hybridization and Southern blot analysis for Epstein-Barr virus (EBV) were negative. At autopsy 2 years later, the patient had widespread lymph node and organ involvement by large-cell immunoblastic lymphoma of B-cell immunophenotype. Southern blot analysis performed on DNA extracted from lymph nodes, liver, and spleen showed two patterns of Ig heavy chain and kappa light chain gene rearrangements. The T-cell receptor beta chain gene was in the germline configuration. Analysis with an EBV terminal repeat region probe showed two clonal populations that paralleled the Ig gene rearrangement studies. Double-labeling immunohistochemistry and in situ hybridization confirmed the presence of EBV within the neoplastic B cells. The data support the hypothesis that EBV was not etiologically related to AILD in this case, and that EBV proliferation may occur after the onset of the disease. Further, the data suggest that some B-cell lymphomas that arise in the setting of AILD resemble EBV-associated B-cell lymphomas that arise in other immunodeficiency states.     

Decreased phagocytic function in neutrophils and monocytes from peripheral blood in periodontal disease

Phagocytosis by neutrophils and monocytes constitutes the main defense mechanism against bacterial challenges in periodontitis. Phagocytosis by neutrophils has already been evaluated, whereas phagocytic function of monocytes has hardly been addressed so far.

Objectives

The aim of this study was to assess phagocytosis by neutrophils and monocytes in periodontitis.

Material and Methods

The sample included 30 subjects with severe periodontitis and 27 control subjects without periodontal disease. The phagocytic index (PhI) was calculated as the mean number of adhered/ingested Saccharomyces cerevisiae per phagocytozing monocyte or neutrophil multiplied by the percentage of phagocytes involved in phagocytosis.

Results

A significant reduction in phagocyte functions was observed in individuals with periodontitis. The median of PhI of neutrophils using non-sensitized S. cerevisiae was 3 for the control group, and 1.5 for the periodontitis group (p=0.01, Mann-Whitney test). The median of PhI of monocytes with non-sensitized S. cerevisiae was 26.13 for the control group, and 13.23 for the periodontitis group (p=0.03, Mann Whitney test). The median of PhI of monocytes assessed with sensitized S. cerevisiae was 97.92 for the control group and 60.1 for the periodontitis group (p=0.005, t-test).

Conclusion

The data demonstrated a reduction in the function of phagocytes, suggesting a decrease in immune defenses in periodontitis.     

Low expression of MSH2 DNA repair protein is associated with poor prognosis in head and neck squamous cell carcinoma

Objective

This study aimed to investigate the expression of the MSH2 DNA repair protein in head and neck squamous cell carcinoma (HNSCC) in order to analyze its association with clinicopathologic factors and overall survival of patients.

Material and Methods

Clinical data and primary lesions of HNSSC were collected from 55 patients who underwent surgical resection with postoperative radiotherapy in Montes Claros, state of Minas Gerais, Brazil, between 2000 and 2008. Immunohistochemical reactions were performed to analyze MSH2 protein expression.

Results

Bivariate analysis showed no significant correlation or association between MSH2 expression and clinicopathologic parameters by Mann-Whitney and Kruskal-Wallis tests. Patients with locoregional metastatic disease (OR=4.949, p<0.001) and lower MSH2 immunohistochemical expressions (OR=2.943, p=0.032) presented poorer survival for HNSCC by Cox regression models.

Conclusions

Our data demonstrated that lower MSH2 expression might contribute to a higher clinic aggressiveness of HNSCC by promoting an unfavorable outcome.