[the Use Of Fish On Buccal Smear To Investigate Mosaicism With A 45,x Cell Line: Study On Healthy Men And Patients With Disorders Of Sex Development].

To verify whether fluorescence in situ hybridization (FISH) of cells from the buccal epithelium could be employed to detect cryptomosaicism with a 45,X lineage in 46,XY patients. Samples of nineteen 46,XY healthy young men and five patients with disorders of sex development (DSD), four 45,X/46,XY and one 46,XY were used. FISH analysis with X and Y specific probes on interphase nuclei from blood lymphocytes and buccal epithelium were analyzed to investigate the proportion of nuclei containing only the signal of the X chromosome. The frequency of nuclei containing only the X signal in the two tissues of healthy men did not differ (p = 0.69). In all patients with DSD this frequency was significantly higher, and there was no difference between the two tissues (p = 0.38), either. Investigation of mosaicism with a 45,X cell line in patients with 46,XY DSD or sterility can be done by FISH directly using cells from the buccal epithelium.

Synthesis and structure elucidation of kappa-casein (45-87) - A two dimensional nuclear magnetic resonance study

We have shown that 44 amino acid residues N-terminal segment of kappa-casein exhibits considerable a-helical structure. This prompted us to investigate the structures of the remaining segments of kappa-casein. Thus, in this study the chemical synthesis and structure elucidation of the peptide 45-87 amino acid residues of kappa-casein is reported. The peptide was assembled using solid phase peptide synthesis methodology on pam resin, cleaved via HF, freeze dried and, after purification, characterised by mass spectrometry (observed m/z 4929; calculated mit 4929.83). The amino acid sequence of the peptide is: CKPVALINNQFLPYPYYAKPAAVRSPAQILQWQVLSNTVPAKA Its structure elucidation has been carried out using circular dichroism (CD) and nuclear magnetic resonance (NMR) techniques. CD spectrum of the peptide shows it to be a random structure in water but in 30% trifluoroethanol the peptide exhibits considerable structure. The 1D and 2D NMR spectra corroborated the results of CD. The structure elucidation of the peptide using TOCSY and NOESY NMR techniques will be discussed.

The Role of SRY Mutations in the Etiology of Gonadal Dysgenesis in Patients with 45,X/46,XY Disorder of Sex Development and Variants

Background: The potential involvement of SRY in abnormal gonadal development in 45,X/46,X,der(Y) patients was proposed following the identification of SRY mutations in a few patients with Turner syndrome (TS). However, its exact etiological role in gonadal dysgenesis in patients with Y chromosome mosaicisms has not yet been clarified. Aims: It was the aim of this study to screen for allelic variation in SRY in a large cohort of patients with disorders of sex development due to chromosomal abnormalities with 45, X/46, X, der(Y) karyotype. Patients: Twenty-seven patients, 14 with TS and 13 with mixed gonadal dysgenesis (MGD), harboring 45, X/46, X, der(Y) karyotypes were selected. Methods: Genomic DNA was extracted from peripheral blood leukocytes of all patients and from gonadal tissue in 4 cases. The SRY coding region was PCR amplified and sequenced. Results: We identified only 1 polymorphism (c.561C -> T) in a 45,X/46,XY MGD patient, which was detected in blood and in gonadal tissue. Conclusion: Our results indicate that mutations in SRY are rare findings in patients with Y chromosome mosaicisms. Therefore, a significant role of mutated SRY in the etiology of gonadal dysgenesis in patients harboring 45, X/46, XY karyotype and variants seems very unlikely. Copyright (C) 2010 S. Karger AG, Basel

Frequency and prognostic relevance of cancer testis antigen 45 expression in multiple myeloma

Objective. This study aims to analyze the expression of cancer testis antigen 45 (CT45) in normal tissues and in plasma cell disorders and to identify possible associations with clinical data and prognosis in multiple myeloma (MM) patients. Materials and Methods. Expression of CT45 was studied in 20 normal tissues (testis, placenta, skeletal muscle, bladder, lung, spleen, heart, brain and fetal brain, thymus, uterus, stomach, mammary gland, pancreas, prostate, small intestine, kidney, adrenal gland, spinal cord, colon, and one pool of 10 normal bone marrow samples) and bone marrow aspirates from 3 monoclonal gammopathies of undetermined significance, 5 solitary plasmacytomas, 61 newly diagnosed MM patients and MM cell line U266 by reverse transcriptase polymerase chain reaction. Results. CT45 was positive in 3 of 20 (15%) normal tissues tested: lung, brain (both fetal and adult), and spinal cord. Among monoclonal gammopathies, CT45 was positive in 2 of 5 (40%) solitary plasmacytomas bone marrow aspirates, 10 of 61 (16%) MM bone marrow aspirates, and in the U266 MM cell line. Conclusions. We did not find associations between bone marrow histology and CT45 expression. However, we demonstrated for the first time that positive expression of CT45 was associated with poor prognostic (international Staging System) and poor outcomes in MM patients, meaning that CT45-positive cases presented seven times more chance of worse evolution than the negative ones. (C) 2009 ISEH - Society for Hematology and Stem Cells. Published by Elsevier Inc.

Texto para discuss??o 45: a conceitua????o de governabilidade e governan??a, da sua rela????o entre si e com o conjunto da reforma do Estado e do seu aparelho

O objetivo do presente artigo ?? introduzir o leitor ??s principais abordagens feitas aos conceitos de governabilidade e governan??a dispon??veis na literatura nacional/internacional contempor??nea e buscar compreender o v??nculo din??mico destas categorias entre si e a sua articula????o com a tem??tica maior da reforma do Estado e do seu aparelho no Brasil

Unesp Informa, 2013, número 45

Boletim elaborado pela Assessoria de Comunicação e Imprensa da Reitoria da UNESP

Unesp Ciência, 2013, ano 5, número 45

Revista elaborada pela Assessoria de Comunicação e Imprensa da Reitoria da UNESP

Tympanometry values in children between 3-45 months old

Tympanometry values of children between 3-45 months old during cold season, with a 226 Hz probe tone

Revisão de 45 casos de tuberculose miliar em adultos - estudos clínicopatológicos

Os autores apresentem uma revisão de 45 casos de tuberculose viiliar em adultos, sendo que 42 foram selecionados de urn total de 4.000 necropsias. Uma correlação clínico-patológica é feita senão nitidamente evidenciado c baixo grau de suspeita clinica da doenca e a relativa freqüência desta infecção em Hospitais Gerais conseqüente à mimetização com outras patologias. Uma classificação histovatológica da condição é feita, assim como os principais órgãos atingidos são assinalados. Discussão a respeito dos mecanismos patogênicos é tentada. Finalizam com uma revisão a respeito dos problemas gerais envolvidos na tuberculose miliar.

Lesões do trato gastrointestinal na síndrome da imunodeficiência adquirida: [title]estudo de 45 necrópsias consecutivas

Com objetivo de estudar afrequência e etiologia das lesões do tubo digestivo na Síndrome da Imunodeficiência Adquirida (AIDS), foram analisadas retrospectivamente 45 necrópsias consecutivas de pacientes adultos portadores do vírus da AIDS. Lesões macroscópicas e cortes histológicos de amostras da boca à região anal foram estudados, sendo as lâminas coradas por HE, métodos histoquímicos ou imunohistoquímicos. Trinta e sete (82,3 %)pacientes apresentaram lesões no tubo digestivo. O local mais freqüente de lesões foi a boca (73,3%), seguido do cólon (55,5%). Lesões múltiplas foram identificadas em 17 (37,7%) casos. O diagnóstico mais prevalente foi infecção pelo citomegalovírus (35,7%) identificado predominantemente no cólon. Candidíasefoi mais freqüente na boca (26,6%) e infecção herpética no esôfago (8,8%). Verificou-se leucoplasiapilosa oral em 16 (35,5%) eneoplasias emsete (15,5%). Asneoplasias incluíram quatro sarcomas de Kaposi, dois Carcinomas intramucosos anais e um linfoma gástrico. Os dados do presente estudo confirmam a importância do trato gastrointestinal como sede de alterações patológicas relacionadas à AIDS.