It is becoming increasingly common for people to openly identify as transgender, yet there is little research in the field of genetic counseling regarding this community's unique medical needs. Transgender patients are likely to present with issues that cross genetics and gender‐related care in a cancer genetic counseling session, and empiric data about these differences is needed to provide adequate care. In order to investigate what specific health topics and concerns are addressed in cancer genetic counseling sessions with transgender patients, 21 cancer genetic counselors who have seen transgender patients were interviewed. Through inductive analysis, six themes emerged: (1) documentation systems are not inclusive or clear; (2) genetic counselors feel unprepared for these sessions; (3) gender affirming hormones impact risk assessment; (4) genetic testing affects gender affirming surgical decisions; (5) transgender patients present at younger ages to clinic; and (6) pathogenic variants allow for insurance coverage for gender affirming surgeries. This study's findings point to opportunities for the field of genetic counseling to enhance services for transgender patients by reporting distinctive situations that may arise in clinic with these patients and providing training recommendations for genetic counselors.

Background Lynch syndrome is a rare familial cancer syndrome caused by pathogenic variants in the mismatch repair genes MLH1, MSH2, MSH6, or PMS2, that cause predisposition to various cancers, predominantly colorectal and endometrial cancer. Data are emerging that pathogenic variants in mismatch repair genes increase the risk of earlyonset aggressive prostate cancer. The IMPACT study is prospectively assessing prostate-specific antigen (PSA) screening in men with germline mismatch repair pathogenic variants. Here, we report the usefulness of PSA screening, prostate cancer incidence, and tumour characteristics after the first screening round in men with and without these germline pathogenic variants. MethodsThe IMPACT study is an international, prospective study. Men aged 40-69 years without a previous prostate cancer diagnosis and with a known germline pathogenic variant in the MLH1, MSH2, or MSH6 gene, and age-matched male controls who tested negative for a familial pathogenic variant in these genes were recruited from 34 genetic and urology clinics in eight countries, and underwent a baseline PSA screening. Men who had a PSA level higher than 3•0 ng/mL were offered a transrectal, ultrasound-guided, prostate biopsy and a histopathological analysis was done. All participants are undergoing a minimum of 5 years' annual screening. The primary endpoint was to determine the incidence, stage, and pathology of screening-detected prostate cancer in carriers of pathogenic variants compared with non-carrier controls. We used Fisher's exact test to compare the number of cases, cancer incidence, and positive predictive values of the PSA cutoff and biopsy between carriers and non-carriers and the differences between disease types (ie, cancer vs no cancer, clinically significant cancer vs no cancer). We assessed screening outcomes and tumour characteristics by pathogenic variant status. Here we present results from the first round of PSA screening in the IMPACT study. This study is registered with ClinicalTrials.gov, NCT00261456, and is now closed to accrual.

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RESUMO:Entender o comportamento e suas pequenas variações decorrentes das mudanças do ambiente térmico e desenvolver modelos que simulem o bem-estar a partir de respostas das aves ao ambiente constituem o primeiro passo para a criação de um sistema de monitoramento digital de aves em galpões de produção. Neste trabalho, foi desenvolvido um sistema de suporte à decisão com base na teoria dos conjuntos fuzzy para a estimativa do bem-estar de matrizes pesadas em função de frequências e duração dos comportamentos expressos pelas aves. O desenvolvimento do sistema passou por cinco etapas distintas: 1) organização dos dados experimentais; 2) apresentação dos vídeos em entrevista com "especialista"; 3) criação das funções de pertinência com base nas entrevistas e na revisão da literatura; 4) simulação de frequências de ocorrências e tempos médios de expressão dos comportamentos classificados como indicadores de bem-estar utilizando equações de regressão obtidas na literatura, e 5) construção das regras, simulação e validação do sistema. O sistema fuzzy desenvolvido estimou satisfatoriamente o bem-estar de matrizes pesadas, tendo na sua última versão, com maior número de regras, acertado 77,8% dos dados experimentais, comparados com as respostas esperadas por um especialista. O sistema pode ser utilizado como instrumento matemático-computacional para apoiar decisões em galpões de produção de matrizes pesadas. PALAVRAS-CHAVE:lógica fuzzy, bem-estar animal, simulação, termoneutralidade, avicultura. SYSTEM FUZZY FOR ESTIMATE OF WELFARE OF BROILER BREEDERSABSTRACT: To understand the behavior and its small variations originated from changes of the thermal environment and to develop models that simulate the welfare from broiler breeders' answer to the environment constitute the first step for the creation of a system for digital monitoring of broiler breeders housing. In this paper it was developed a system of decision support based on the fuzzy conjuncts' theory to estimate the welfare of broiler breeders in function of frequencies and times of occurrences of behaviors. The controller's development passed for five distinct steps: 1) organization of the experimental data; 2) observation of the videos in interview with specialist; 3) creation of the relevancy functions according to the interviews and the literature revision; 4) frequency simulation of occurrences and average times of expression of the classified behaviors such as indicators of welfare using regression equation from the literature, and 5) construction of rules, simulation and validation of the controller step by step, comparing the results between the simulations. The developed controller satisfactorily estimated the welfare of broiler breeders, having in its version with larger number of rules, estimated about 80% of the experimental data correctly when compared with the answers expected by a specialist. The system can be used as mathematician-computational instrument to support decisions in broiler breeders housing.

We report the development of a rapid, simple, and robust LC–MS/MS-based enzyme assay using dried blood spots (DBS) for the diagnosis of pyridox(am)ine 5′-phosphate oxidase (PNPO) deficiency (OMIM 610090). PNPO deficiency leads to potentially fatal early infantile epileptic encephalopathy, severe developmental delay, and other features of neurological dysfunction. However, upon prompt treatment with high doses of vitamin B6, affected patients can have a normal developmental outcome. Prognosis of these patients is therefore reliant upon a rapid diagnosis. PNPO activity was quantified by measuring pyridoxal 5′-phosphate (PLP) concentrations in a DBS before and after a 30 min incubation with pyridoxine 5′-phosphate (PNP). Samples from 18 PNPO deficient patients (1 day–25 years), 13 children with other seizure disorders receiving B6 supplementation (1 month–16 years), and 37 child hospital controls (5 days–15 years) were analyzed. DBS from the PNPO-deficient samples showed enzyme activity levels lower than all samples from these two other groups as well as seven adult controls; no false positives or negatives were identified. The method was fully validated and is suitable for translation into the clinical diagnostic arena.

This study aimed to develop a fuzzy mathematical model to estimate the impacts of global warming on the vitality of Laelia purpurata growing in different Brazilian environmental conditions. In order to develop the mathematical model was considered as intrinsic factors the parameters: temperature, humidity and shade conditions to determine the vitality of plants. Fuzzy model results could accurately predict the optimal conditions for cultivation of Laelia purpurata in several sites of Brazil. Based on fuzzy model results, we found that higher temperatures and lacking of properly shading can reduce the vitality of orchids. Fuzzy mathematical model could precisely detect the effect of higher temperatures causing damages on vitality of plants as a consequence of global warming.

<span lang="EN-US">Coffee cultivation has undergone significant changes, especially with regard to the mechanization process of the various existing operations that were previously carried out manually by the workers. It is observed that the intensification of mechanized activities can expose workers to noise levels capable of compromising their hearing health. In this sense, the objective of the present study was to determine the level of occupational noise in the activities of mechanized and semi-mechanized harvesting of coffee fruits and compare them with the limits of tolerance of the current legislation. The occupational noise level was determined considering the exposure of homogeneous groups, using an integrative meter for personal use, noise dosimeter, electromechanically calibrated and with field calibration. The results demonstrate that the noise levels found are above the limits allowed for an 8-hour working day. The highest observed level was 100.66 dB (A) in the sweeping operation with the blower equipment and the lowest level 89.05 dB (A) in the auxiliary activity of the selected collection equipment Vicon H3000. Harvesting activity with a portable </span><span lang="EN-US">mechanical stripper <span>equipment showed a noise level 4.07% higher compared to harvesting with automotive harvester equipment.</span></span>

The KOGS may prove useful for researchers and healthcare professionals using whole-genome sequencing with patients and other stakeholders.