Ocorrência de leveduras em espécies vegetais nativas da mata atlântica, Parque Estadual da Serra do Mar - Núcleo Picinguaba, São Paulo

No período de março de 1999 a fevereiro de 2002, foram coletadas 311 flores e 72 frutos de 19 espécies vegetais nativas de Mata Atlântica na região de Ubatuba, SP - núcleo Picinguaba, com o objetivo de descrever as espécies de leveduras presentes. Os locais de coleta abrangeram uma grande extensão de áreas de mata de encosta, planície, restinga e beira mar. Ainda, 75 amostras da água acumulada nos tanques de outras duas espécies vegetais foram analisadas com o mesmo objetivo. Trezentas e vinte e seis linhagens de leveduras foram isoladas, das quais, 75,8% apresentaram afinidade ascomicética e 24,2% basideomicética. O gênero Candida foi predominante, seguido por Metschnikowia, Hanseniaspora, Bullera e Cryptococcus. Entre os ascomicetos e seus anamorfos, 37 espécies foram identificadas, sendo que a espécie mais freqüentemente isolada em flores e frutos foi Hanseniaspora uvarum, com 22 e 20 isolados, respectivamente. Outras espécies que também foram isoladas com freqüência em flores foram Bullera unica e Metschnikowia koreensis. Como esperado, muitas das linhagens isoladas não se enquadraram dentro dos padrões descritos na literatura e, nesses casos, as mais freqüentes tiveram a região do domínio D1/D2 do rDNA seqüenciada. Todos os oito isolados da nova espécie Candida leandrae foram obtidos a partir de frutos de Leandra reversa (Melastomataceae), sugerindo forte associação entre ambos. Das amostras da água de tanque foram isoladas cinco novas espécies. De Canistropsis seidelii (Bromeliaceae) foram descritas duas novas espécies: Candida bromeliacearum e Candida ubatubensis. A partir de Heliconia velloziana (Heliconiaceae) foram descritas Candida heliconeae, Candida picinguabensis e Candida sanpauloensis. Alguns isolados designados como Candida sp. A, B, C, D, E, F, G, H, I e Debaryomyces sp. A, B, C e outros, também não corresponderam às características das espécies-padrão descritas na literatura e ainda não foram seqFrom March of 1999 to February of 2002, 311 flowers and 72 fruits of 19 native plant species of the Atlantic Forest in the region of Ubatuba, SP Picinguaba area were sampled for the presence of yeasts. The sites of collection included a great extension of coastal areas like hillsides, plains, restinga and seashores. Seventy five samples of the water accumulated in the tank of two other plant species were also examined. Three hundred and twenty six yeast strains were isolated, with 75.8% being ascomycetes and 24.2% basideomycetes. The genus Candida was predominant, followed by Metschnikowia, Hanseniaspora, Bullera and Cryptococcus. Regarding the ascomycetous and their anamorphs, 37 species were identified, and Hanseniaspora uvarum was the prevalent in flowers and fruits, with 22 and 20 isolated respectively. Bullera unica and Metschnikowia koreensis were also frequently isolated from flowers. As expected, many of the strains did not fit the standard found in literature and most of them had their D1/D2 domain of rDNA sequenced. All the eight strains of new species, Candida leandrae were isolated from fruits of Leandra reversa (Melastomataceae), suggesting a strong association between them. Another five new species were isolated from tank water as follows: Candida ubatubensis and Candida bromeliacearum from Canistropsis seidelii (Bromeliaceae) and Candida heliconeae, Candida sanpauloensis and Candida picinguabensis from Heliconia velloziana (Heliconiaceae). Some strains previously identified as Candida sp. A, B, C, D, E, F, G, H, I and Debaryomyces sp. A, B, C and others, could not be identified as well but they were not sequenced to date.Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES

A Novel KCNN2 Variant in a Family with Essential Tremor Plus: Clinical Characteristics and In Silico Analysis

Background: Essential tremor (ET) is one of the more common movement disorders. Current diagnosis is solely based on clinical findings. ET appears to be inherited in an autosomal dominant pattern. Several loci on specific chromosomes have been studied by linkage analysis, but the causes of essential tremor are still unknown in many patients. Genetic studies described the association of several genes with familial ET. However, they were found only in distinct families, suggesting that some can be private pathogenic variants. Aim of the study: to characterize the phenotype of an Italian family with ET and identify the genetic variant associated. Methods: Clinical and genetic examinations were performed. Genetic testing was done with whole-exome sequencing (WES) using the Illumina platform. Bidirectional capillary Sanger sequencing was used to investigate the presence of variant in all affected members of the family. In silico prediction of pathogenicity was used to study the effect of gene variants on protein structure. Results: The proband was a 15-year-old boy. The patient was the first of two children of a non-consanguineous couple. Family history was remarkable for tremor in the mother line. His mother suffered from bilateral upper extremity kinetic tremors (since she was 20 years old), anxiety, and depression. Other relatives referred bilateral upper extremity tremors. In the index case, WES analysis performed supposing a dominant mode of inheritance, identified a novel heterozygous missense variant in potassium calcium-activated channel subfamily N member 2 (KCNN2) (NM_021614.3: c.1145G>A, p.Gly382Asp). In the pedigree investigation, all carriers of the gene variant had ET and showed variable expressivity, the elder symptomatic relative showing cognitive impairment and hallucinations in the last decade, in addition to tremor since a young age. The amino acid residue #382 is located in a transmembrane region and in silico analysis suggested a causative role for the variant. Modelling of the mutant protein structure showed that the variant causes a clash in the protein structure. Therefore, the variant could cause a conformational change that alters the ability of the protein in the modulation of ion channels Conclusions: The KCNN2 gene variant identified could be associated with ET. The variant could modify a voltage-independent potassium channel activated by intracellular calcium

Characterization of the first adult de novo case of 46,X,der(Y)t(X;Y)(p22.3;q11.2).

Item does not contain fulltextHerein, we describe a case of an infertile man detected in postnatal diagnosis with FISH characterization and array-CGH used for genome-wide screening which allowed the identification of a complex rearrangement involving sex chromosomes, apparently without severe phenotypic consequences. The deletion detected in our patient has been compared with previously reported cases leading us to propose a hypothetical diagnostic algorithm that would be useful in similar clinical situations, with imperative multi disciplinary approach integrated with genetic counseling. Our patient, uniquely of reproductive age, is one of six reported cases of duplication of Xp22.3 (~8.4Mb) segment and contemporary deletion of Yq (~42.9Mb) with final karyotype as follows: 46,X,der(Y),t(X;Y)(Ypter-->Yq11.22

Positive predictive values and outcomes for uninformative cell-free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO Study)

Objectives: To establish the positive predictive values (PPV) of cfDNA testing based on data from a nationwide survey of independent clinical cytogenetics laboratories. Methods: Prenatal diagnostic test results obtained by Italian laboratories between 2013 and March 2020 were compiled for women with positive non-invasive prenatal tests (NIPT), without an NIPT result, and cases where there was sex discordancy between the NIPT and ultrasound. PPV and other summary data were reviewed. Results: Diagnostic test results were collected for 1327 women with a positive NIPT. The highest PPVs were for Trisomy (T) 21 (624/671, 93%) and XYY (26/27, 96.3%), while rare autosomal trisomies (9/47, 19.1%) and recurrent microdeletions (8/55, 14.5%) had the lowest PPVs. PPVs for T21, T18, and T13 were significantly higher when diagnostic confirmation was carried out on chorionic villi (97.5%) compared to amniotic fluid (89.5%) (p < 0.001). In 19/139 (13.9%), of no result cases, a cytogenetic abnormality was detected. Follow-up genetic testing provided explanations for 3/6 cases with a fetal sex discordancy between NIPT and ultrasound. Conclusions: NIPT PPVs differ across the conditions screened and the tissues studied in diagnostic testing. This variability, issues associated with fetal sex discordancy, and no results, illustrate the importance of pre- and post-test counselling