Impact of fire recurrence and induced water stress on seed germination and root mitotic cell cycle of Pinus pinaster aiton

Climate change will increase the frequency of drought, heat waves, and wildfires. We intended to analyse how fire recurrence and/or induced water stress can affect seed germination and root cell division in Pinus pinaster Aiton. Seeds from stands with no prior fire history and from post-fire regeneration (in areas burnt once, twice, and thrice) in northern Portugal were germinated in distilled water (control) and polyethylene glycol (PEG) to simulate water stress for four weeks, followed by a recovery period. Roots were analysed cytogenetically. The germination index of the Pinus pinaster seeds was not statistically influenced by the induction of osmotic stress, nor by the fire recurrence of the stands. The mean germination time (MGT) was 10–29 days and 1–36 days for the stress and recovery periods, respectively, and increased with PEG concentration. The 20% PEG treatment inhibited root growth after germination. The 10% PEG treatment induced a high frequency of cytogenetic anomalies, mostly in the sites which experienced fire exposure. While fire recurrence did not affect the germination rate, it seemed to reduce the water stress response, negatively impacting cell division and impair root growthinfo:eu-repo/semantics/publishedVersio

Detection of subtelomeric rearrangements in 1180 patients: FISH and MLPA contribution

Mental retardation (MR) is a major social, educational, and health problem affecting 3% of the population. Subtelomeric chromosome aberrations are one of the major causes of MR with or without multiple anomalies; previous studies have shown that these rearrangements are responsible for 3-6% of unexplained mental retardation. Between 2000-2010 in the Cytogenetics Unit, Centro de Genética Médica Jacinto de Magalhães, INSA (Portugal), the subtelomeric regions of all the chromosomes were analysed in 1180 individuals, whose karyotype had been considered normal. The reasons for referral included (i) psychomotor development delay or (ii) mental retardation with or without dysmorphisms. Until 2007 the analysis of metaphases, obtained from cultured lymphocytes following standard protocols, were performed by "Fluorescence in situ hybridization” (FISH): the first kit to be used was the Chromoprobe Multiprobe-TM (Cytocell) kit (until 2005), which was followed by the TotelVysion Multi-Color FISH Probe (Vysis). In 2007 the "Multiplex Ligation dependent Probe Amplification” (MLPA) was implemented in the laboratory, using kits P036 and P070 (MRC-Holland). All the unbalanced cases detected by MLPA were confirmed by FISH. Of a total of 1180 individuals, 62 (5.3%) showed chromosomal alterations: 60 in the subtelomeric regions and 2 in the control regions. It was not possible to perform any familial studies in 12 of the 62 cases (1.0%) and therefore the results were considered inconclusive. In the other 50 abnormal cases, the parental investigation allowed us to conclude that 30 (2.5%) of these patients had chromosomal abnormalities “de novo” that might be responsible for the clinical phenotype; the remaining 20 possibly abnormal cases (1.7%) were considered polymorphisms without pathological significance, since the apparent deletion or duplication had been inherited from phenotypically normal parents. The authors compare the results obtained in the individuals in the present study with literature reports and highlight the advantages/disadvantages of each technique

Large interstitial del(13)(q13q14.3): the importance of detailed clinical information in cytogenetic studies

Interstitial deletions of chromosome 13 are known to be associated with retinoblastoma. A wider syndrome may accompany the deletion, including mental retardation and craniofacial dysmorphism. The severity of the phenotype depends on the extent of the deletion. Retinoblastoma is a malignant tumor in the retina and is the most common ocular cancer in children. The association of most cases of retinoblastoma with an interstitial del(13q) has led to the localization of the retinoblastoma gene in 13q14. We report a case of a boy aged 8 referred for cytogenetic studies, presenting with mild mental retardation, craniofacial dysmorphism, delayed intrauterine growth (IUGR) and retinoblastoma. The karyotype was obtained from peripheral blood lymphocyte cultures using high-resolution GTG banding and standard techniques. Fluorescence in situ hybridization was performed using the LSI 13 (RB1) probe (Vysis) for region 13q14 spanning the RB1 gene. The chromosomal analysis revealed a large interstitial deletion of the long arm of chromosome 13. Although the exact breakpoints were difficult to establish, the deleted region did not appear to encompass the band which includes the retinoblastoma gene. Molecular cytogenetic techniques showed that the retinoblastoma gene was deleted. This confirmed the clinical indication of retinoblastoma and defined the deletion breakpoints more precisely. Final karyotype: 46,XY,del(13)(q13q14.3).ish del(13) (q14.1q14.3)(RB1−). Except for the presence of IUGR, the clinical description of this patient is in agreement with other reports in the literature. We would like to emphasize the importance of detailed clinical information that, together with classical and molecular cytogenetic techniques, could be useful in better defining the breakpoints, establishing correct genotype/phenotype correlation and thus providing appropriate genetic counselling. The blood samples of the parents were requested for karyotype analysis in order to clarify this chromosome deletion

Altitude influence on the quality of 'Chardonnay' and 'Pinot Noir' grapes in the state of Minas Gerais

No Sul e Sudeste brasileiros, o excesso de chuvas durante o período de maturação afeta negativamente a qualidade dos vinhos tintos. Por outro lado, estas regiões possuem potencial para a elaboração de espumantes, uma vez que, para a elaboração desta bebida, a uva é colhida antes de completar o amadurecimento. No Estado de Minas Gerais, as condições de verão chuvoso estão presentes em todas as regiões de potencial vitícola, e a variação de altitude entre elas pode exercer influência na composição das uvas. Desta forma, este estudo buscou avaliar o potencial de maturação de uvas 'Chardonnay' e 'Pinot Noir' destinadas à elaboração de espumantes em dois locais de Minas Gerais: Cordislândia (873m) e Caldas (1.150m). As plantas foram enxertadas sobre 1.103 Paulsen e conduzidas em espaldeira. Foram avaliados os teores de sólidos solúveis totais, acidez total, ácidos málico e tartárico, e pH do mosto, tamanho e massa das bagas, compostos fenólicos nas cascas e sementes, antocianinas na casca e açúcares solúveis nas bagas, em duas safras consecutivas. As bagas apresentaram maior tamanho e massa quando cultivadas em Caldas. As uvas colhidas em Cordislândia apresentaram maior grau de maturação, sendo observados maior pH, maiores teores de glicose e frutose, e quantidade inferior de acidez e fenólicos totais nas sementes. Os maiores teores de ácido málico presentes nas uvas provenientes de Caldas sugerem que esta região pode ser mais indicada à produção de uvas para elaboração de vinhos espumantes.In the southern and southeastern of Brazil, the excessive rainfall during the maturation period negatively affects the quality of red wines. On the other hand, these regions have great potential for the development of sparklings since that for the elaboration of this drink, the grape is harvested before complete its maturation. In the state of Minas Gerais, the conditions of rainy summer season are present in all regions of grape production potential, and the altitude variation between them influence on the grapes composition. Therefore, this study sought to evaluate the potential for maturing of the grapes 'Chardonnay' and 'Pinot Noir' which are designated for the preparation of sparklings in two locations of Minas Gerais: Cordislândia (873m) and Caldas (1150m). The plants were grafted on 1103 Paulsen and conducted in trellis. It was evaluated the contents of total soluble solids, total acidity, malic and tartaric acid, and pH of the wort, size and mass of the berries, phenolic compounds in the peels and in the seeds, anthocyanins in the peels and soluble sugars in the berries in two seasons in a row. The berries had higher size and mass when grown in Caldas. The grapes harvested in Cordislândia presented a higher maturity degree, and it was observed a higher pH, higher levels of glucose and fructose, and a lower amount of acidity and total phenolic content in the seeds. The highest levels of malic acid present in the grapes of Caldas suggest that this region may be more appropriate for the production of grapes which are used for making sparklings.FAPEMIGCNP

Expression profiling in ovarian cancer reveals coordinated regulation of BRCA1/2 and homologous recombination genes

© 2022 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).Predictive biomarkers are crucial in clarifying the best strategy to use poly(ADP-ribose) polymerase inhibitors (PARPi) for the greatest benefit to ovarian cancer patients. PARPi are specifically lethal to cancer cells that cannot repair DNA damage by homologous recombination (HR), and HR deficiency is frequently associated with BRCA1/2 mutations. Genetic tests for BRCA1/2 mutations are currently used in the clinic, but results can be inconclusive due to the high prevalence of rare DNA sequence variants of unknown significance. Most tests also fail to detect epigenetic modifications and mutations located deep within introns that may alter the mRNA. The aim of this study was to investigate whether quantitation of BRCA1/2 mRNAs in ovarian cancer can provide information beyond the DNA tests. Using the nCounter assay from NanoString Technologies, we analyzed RNA isolated from 38 ovarian cancer specimens and 11 normal fallopian tube samples. We found that BRCA1/2 expression was highly variable among tumors. We further observed that tumors with lower levels of BRCA1/2 mRNA showed downregulated expression of 12 additional HR genes. Analysis of 299 ovarian cancer samples from The Cancer Genome Atlas (TCGA) confirmed the coordinated expression of BRCA1/2 and HR genes. To facilitate the routine analysis of BRCA1/2 mRNA in the clinical setting, we developed a targeted droplet digital PCR approach that can be used with FFPE samples. In conclusion, this study underscores the potential clinical benefit of measuring mRNA levels in tumors when BRCA1/2 DNA tests are negative or inconclusive.This research was funded by the Fundação para a Ciência e a Tecnologia, Portugal (PTDC/MED-ONC/29469/2017) and an unrestricted grant from AstraZeneca to M.C.-F. R.S. was a recipient of an EMBO Long-Term Fellowship (EMBO ALTF 101-2019). This project has received funding from the European Union’s Horizon 2020 research and innovation programme under the Marie Skłodowska-Curie grant agreement No. 842695.info:eu-repo/semantics/publishedVersio

Facial Herpes Zoster – Case Report

This article describes a case of facial zoster which affected a sixteen-year-old male patient. His ulcerations involved the majority of the right hemiface not surpassing the facial midline. The observation of follow- up of the patient during and after treatment was accomplished and the case was followed up from the appearance of the lesions up the final healing process, where the patient had returned to his normal life condition. Herpes zoster infection seems to be an outcome of a weakened immunologic system and patients must be monitored in order to detect possible sequels or undetected non-diagnosed diseases.Objetivo: Este artigo descreve um caso de zoster facial o qual afetou um paciente do sexo masculino de dezesseis anos de idade. Suas ulcerações comprometiam a hemiface direita não ultrapassando a linha média facial. Materiais e métodos: Observação e acompanhamento do paciente durante e após o tratamento. Resultados: O caso foi acompanhado do aparecimento das lesões até o processo final de cicatrização, onde o paciente retornou à sua condição de vida normal. Conclusões: A infecção por herpes zoster parece ser o resultado de um sistema imunológico enfraquecido e os pacientes portadores devem ser monitorados a fim de detectar possíveis sequelas ou doenças oportunistas não diagnosticadas

Genetic Screening of Mutations Associated with Fabry Disease in a Nationwide Cohort of Juvenile Idiopathic Arthritis Patients

Fabry's disease (FD) is a lysosomal storage disorder associated with an alpha-galactosidase A deficiency. The prevalence of FD among juvenile idiopathic arthritis (JIA) patients with established diagnosis is unknown, but as musculoskeletal pain may be an important complaint at presentation, misdiagnosed cases are anticipated. With this study, we aim to calculate the frequency of FD-associated mutations in a cohort of JIA patients. Children with JIA from a national cohort were selected. Clinical and laboratorial information was recorded in the Portuguese rheumatic diseases register (http://Reuma.pt). Molecular genetic testing to detectGLAgene mutations was performed. After the multiplex polymerase chain reactions technique for DNA amplification, direct sequencing of the complete sequence ofGLAgene was completed. From a cohort of 292 patients with JIA (188 females, 104 males), mutations were identified in 5 patients (all female). Four patients had the mutation D313Y, a rareGLAvariant, which is associated with low enzymatic levels in plasma, but normal lysosomal levels. One patient presented the missense mutation R118C, which was previously described in Mediterranean patients with FD. This is the first screening of FD mutations in a cohort of JIA patients. No "classic" pathogenic FD mutations were reported. The late-onset FD-associated mutation, R118C, was found in a frequency of 0.34% (1/292).publishersversionpublishe

Chromosome 1p36 deletion syndrome: a report on 4 cases

Chromosome 1p36 deletion syndrome (MIM #607872) was first described in 1997 by Shapira et al. This condition is compatible with a monosomy of the 1p36 band in the distal region of the short arm of chromosome 1 and is the most common terminal deletion in humans, with an estimated prevalence of approximately 1 in 5,000 live births. This constitutional deletion is associated with mental retardation, developmental delay, seizures, hypotonia and heart defects. The syndrome is also characterized by several distinct dysmorphic features, including large anterior fontanels, microcephaly, brachycephaly, deep-set eyes, flat nose and nasal bridge, and pointed chin. The 1p36 band is not very clearly visible using classical cytogenetics, and it is therefore difficult to detect these deletions in banded karyotypes. Fluorescence in situ hybridization (FISH) and multiplex ligation-dependent probe amplification (MLPA) analysis have increasingly been used, in addition to classical cytogenetic analysis, in children with mental retardation in order to identify this chromosomal abnormality. The authors present four patients between 1 month and 14 years of age with apparently normal karyotypes. Using molecular cytogenetic techniques, all cases showed a “pure” 1p36 deletion: three were detected by FISH (CEB108/T7, located at 1p36.3, Vysis) and are “de novo”; the fourth was detected by MLPA (P036 and P070, MRC Holland) analysis, and its origin is still unknown. The phenotypes of these patients are described and compared with other cases having this syndrome, described in the literature. We also emphasize the importance of good clinical characterization in order to establish the best cytogenetic strategy to assure accurate diagnosis

NÍVEIS DE RACTOPAMINA E SUA INFLUÊNCIA SOBRE O DESEMPENHO E CARACTERÍSTICAS DE CARCAÇA DE SUÍNOS EM TERMINAÇÃO

Aumentar a quantidade de carne na carcaça de suínos tem sido o objetivo não somente da indústria, como também do produtor de suínos, uma vez que melhora a rentabilidade e diminui os custos de produção. Neste sentido, objetivou-se com essa pesquisa avaliar o desempenho e as características de carcaça de suínos em terminação suplementados com diferentes níveis de ractopamina na dieta. Foram utilizados 60 suínos (30 machos castrados e 30 fêmeas), com peso inicial médio de 75,0 Kg alojados em baias de piso parcialmente ripado. O delineamento experimental foi em blocos casualizados com três níveis de ractopamina – 0, 5 e 10 ppm, totalizando três tratamentos e dez repetições, com dois animais (um macho e uma fêmea) por baia (parcela experimental). Foram realizadas análises de desempenho (peso final, ganho de peso médio diário, consumo de ração médio diário e conversão alimentar) e de qualidade de carcaça (rendimento de carcaça, rendimento de carne na carcaça, espessura de toucinho e profundidade de lombo). A suplementação de 10 ppm de ractopamina na dieta de suínos em terminação aumentou o rendimento de carne na carcaça e reduziu a espessura de toucinho. Assim, conclui-se que a suplementação de 10 ppm de ractopamina na dieta de suínos em terminação melhora as características de carcaça

Patient-physician discordance in assessment of adherence to inhaled controller medication: a cross-sectional analysis of two cohorts

We aimed to compare patient's and physician's ratings of inhaled medication adherence and to identify predictors of patient-physician discordance.(SFRH/BPD/115169/2016) funded by Fundação para a Ciência e Tecnologia (FCT); ERDF (European Regional Development Fund) through the operations: POCI-01-0145-FEDER-029130 ('mINSPIRERS—mHealth to measure and improve adherence to medication in chronic obstructive respiratory diseases—generalisation and evaluation of gamification, peer support and advanced image processing technologies') cofunded by the COMPETE2020 (Programa Operacional Competitividade e Internacionalização), Portugal 2020 and by Portuguese Funds through FCT (Fundação para a Ciência e a Tecnologia).info:eu-repo/semantics/publishedVersio