Increased risk of suicide in schizophrenia patients with linkage to chromosome 13q

We link schizophrenia in families from the genetically isolated South African Afrikaner population to chromosome 13q (n =51), 1p (n =23) and combined 13q & 1p (n =18). Patients with linkages to chromosome 13q were 4.16 times more likely to meet diagnostic criteria for schizoaffective disorder compared to patients with linkage to 1p. A third of patients with linkage to both 13q & 1p met diagnostic criteria for SAD. There was a significant positive relationship between suicidality and a diagnosis of schizoaffective disorder. Identifying linkage to chromosome 13q may be informative in identifying suicide risk early and prevent morbidity and mortality in schizophrenia patients.JL Roos is receiving incentive funding from the National Research Foundation (NRF).http://www.elsevier.com/locate/psychres2018-05-31hb2017PsychiatryStatistic

Phenotypic features of patients with schizophrenia carrying de novo gene mutations : a pilot study

Genome-wide scans have revealed a significant role for de novo copy number variants (CNVs) and Single Nucleotide variants (SNVs) in the genetic architecture of schizophrenia. The present study attempts to parse schizophrenia based on the presence of such de novo mutations and attempts genotype–phenotype correlation. We examined phenotypic variables across three broad categories: clinical presentation, premorbid function, disease course and functional outcome and compared them in individuals with schizophrenia carrying either a de novo CNV, a de novo SNV, or no de novo mutation. Work skills were worst affected in patients carrying de novo CNVs. More learning disabilities were found in subjects carrying de novo SNVs. Patients with either mutation had older parents at birth and worse functional outcome as measured by SLOF scores. We found no relation between treatment resistance and the presence of de novo mutations. The combined consideration of the functional outcome scores and early deviant behaviours was found to have higher predictive value for underlying genetic vulnerability. Due to the rare nature of the de novo mutations the sample sizes studied here were small. Despite this, valuable phenotypic characteristics were identified in schizophrenia patients carrying de novo mutations and studying larger samples will be of interest.http://www.elsevier.com/locate/psychreshb201

Phenotypic features of patients with schizophrenia carrying de novo gene mutations: A pilot study

Genome-wide scans have revealed a significant role for de novo copy number variants (CNVs) and Single Nucleotide variants (SNVs) in the genetic architecture of schizophrenia. The present study attempts to parse schizophrenia based on the presence of such de novo mutations and attempts genotype–phenotype correlation. We examined phenotypic variables across three broad categories: clinical presentation, premorbid function, disease course and functional outcome and compared them in individuals with schizophrenia carrying either a de novo CNV, a de novo SNV, or no de novo mutation. Work skills were worst affected in patients carrying de novo CNVs. More learning disabilities were found in subjects carrying de novo SNVs. Patients with either mutation had older parents at birth and worse functional outcome as measured by SLOF scores. We found no relation between treatment resistance and the presence of de novo mutations. The combined consideration of the functional outcome scores and early deviant behaviours was found to have higher predictive value for underlying genetic vulnerability. Due to the rare nature of the de novo mutations the sample sizes studied here were small. Despite this, valuable phenotypic characteristics were identified in schizophrenia patients carrying de novo mutations and studying larger samples will be of interest.http://www.elsevier.com/locate/psychreshb201

Could basidiomycetes fungi be an alternative for the treatment of fibrous feedstuffs? application of enzymatic complexes and future prospects Fungos basidiomicetos podem ser uma alternativa para o tratamento de alimentos fibrosos? aplicação de complexos enzimáticos e perspectivas futuras

This presentation intends to make a brief description of the studies being investigated by our research group in the area valorization of fibrous feed utilizing the white-rot fungi (basidiomycetes fungi) enzyme complexes.<br>Esta apresentação pretende fazer uma breve descrição dos estudos que têm sido investigados pelo nosso grupo de pesquisa na área de valorização de alimentos fibrosos, utilizando o fungo de podridão branca (fungos basidiomicetos) complexos enzimáticos