Mutational landscape of head and neck squamous cell carcinomas in a South Asian population

Head and neck squamous cell carcinoma (HNSCC) is the sixth most common cancer type globally and contributes significantly to burden of disease in South Asia. In Pakistan, HNSCC is anmong the most commonly diagnosed cancer in males and females. The increasing regional burden of HNSCC along with a unique set of risk factors merited a deeper investigation of the disease at the genomic level. Whole exome sequencing of HNSCC samples and matched normal genomic DNA (n=7) was performed. Significant somatic single nucleotide variants (SNVs) were identified and pathway analysis performed to determine frequently affected signaling pathways. We identified significant, novel recurrent mutations in ASNS (asparagine synthetase) that may affect substrate binding, and variants in driver genes including TP53, PIK3CA, FGFR2, ARID2, MLL3, MYC and ALK. Using the IntOGen platform, we identified MAP kinase, cell cycle, actin cytoskeleton regulation, PI3K-Akt signaling and other pathways in cancer as affected in the samples. This data is the first of its kind from the Pakistani population. The results of this study can guide a better mechanistic understanding of HNSCC in the population, ultimately contributing new, rational therapeutic targets for the treatment of the disease

Expressed emotion and the course of schizophrenia in Pakistan

Purpose: Aim of the study is to evaluate the predictive power of Expressed Emotion in Schizophrenia relapse in Pakistan. Method: A longitudinal study was conducted comprising 53 in-patients’ sample diagnosed with Schizophrenia and their 101 key carers. Participants fulfilled DSM-IV-TR criteria for Schizophrenia based on Structural Clinical Interview for the DSM-IV diagnosis. Symptomatic status was measured through Brief Psychiatric Rating Scales-Expanded (BPRS-E). Caregivers’ level of EE was assessed through Camberwell Family Interview (CFI). Patients were followed up for 9 months after hospital discharge. Results: Relapse rate for patients with high-EE household was 72% as compared with 36% in the low-EE household. Logistic Regression showed a positive relationship between high-EE and relapse (CI 0.06–0.80; p  <  0.05). Both hostility and critical comments emerged as significant predictors of relapse. The odds ratio showed that a one unit increase in caregivers’ score on the CCs and hostility scales were associated with a 1.29 (CI 1.06–1.56; p  <  0.05) and 1.89 (CI 1.14–3.13; p  <  0.05) times increased rate of relapse, respectively. Conversely, a non-significant relationship was observed between EOI and relapse. Conclusions: The findings from this study confirmed the validity of EE construct in predicting schizophrenia relapse in a Pakistani sample. However, medication compliance has not been experimentally controlled and that is one of the limitations of the study

The 4th Schizophrenia International Research Society Conference, 5-9 April 2014, Florence, Italy:A summary of topics and trends

The 4th Schizophrenia International Research Society Conference was held in Florence, Italy, April 5-9, 2014 and this year had as its emphasis, &quot;Fostering Collaboration in Schizophrenia Research&quot;. Student travel awardees served as rapporteurs for each oral session, summarized the important contributions of each session and then each report was integrated into a final summary of data discussed at the entire conference by topic. It is hoped that by combining data from different presentations, patterns of interest will emerge and thus lead to new progress for the future. In addition, the following report provides an overview of the conference for those who were present, but could not participate in all sessions, and those who did not have the opportunity to attend, but who would be interested in an update on current investigations ongoing in the field of schizophrenia research. Published by Elsevier B.V

Ethnographic analysis of expressed emotions in Pakistani families of patients with schizophrenia

Family expressed emotions (EE) have been found to be closely linked with the course of the disorder in patients with schizophrenia. Despite substantial cross-cultural differences in rates and impact of EE, a qualitative understanding of the construct is missing in relevant literature. This work was undertaken in Pakistan to understand the indigenous expression of emotional overinvolvement, criticism, and hostility as the primary components of the construct. We transcribed and conducted content analysis on the audio-recorded Camberwell Family Interviews of sixty-four caregivers to search the statements indicating these three elements. The frequency of statements showing overinvolved behavior surpasses all other accounts indicating criticism or hostility. Although many emotionally overinvolved behaviors are culturally relevant, some behaviors of the relatives, particularly of mothers, are above and beyond the cultural expectations. Outcome studies are warranted to determine whether extreme sacrificing and devoted behavior is pathological or a part of the culture. Criticism is mostly directed to socially objectionable behavior followed by personality traits of the patients. The higher frequency of hostility may be explained by specific socio-cultural factors. This ethnographic analysis shows that expressed emotions is not a culture specific construct. However, cultural distinctive patterns of emotional overinvolvement and critical attitude may exist across cultures