The use of fluorescence in situ hybridization in the diagnosis of hidden mosaicism: apropos of three cases of sex chromosome anomalies

FISH has been used as a complement to classical cytogenetics in the detection of mosaicism in sex chromosome anomalies. The aim of this study is to describe three cases in which the final diagnosis could only be achieved by FISH. Case 1 was an 8-year-old 46,XY girl with normal female genitalia referred to our service because of short stature. FISH analysis of lymphocytes with probes for the X and Y centromeres identified a 45,X/46,X,idic(Y) constitution, and established the diagnosis of Turner syndrome. Case 2 was a 21-month-old 46,XY boy with genital ambiguity (penile hypospadias, right testis, and left streak gonad). FISH analysis of lymphocytes and buccal smear identified a 45,X/46,XY karyotype, leading to diagnosis of mixed gonadal dysgenesis. Case 3 was a 47,XYY 19-year-old boy with delayed neuromotor development, learning disabilities, psychological problems, tall stature, small testes, elevated gonadotropins, and azoospermia. FISH analysis of lymphocytes and buccal smear identified a 47,XYY/48,XXYY constitution. Cases 1 and 2 illustrate the phenotypic variability of the 45,X/46,XY mosaicism, and the importance of detection of the 45,X cell line for proper management and follow-up. In case 3, abnormal gonadal function could be explained by the 48,XXYY cell line. The use of FISH in clinical practice is particularly relevant when classical cytogenetic analysis yields normal or uncertain results in patients with features of sex chromosome aneuploidy. Arq Bras Endocrinol Metab. 2012;56(8):545-51

Success attitudes of young ophthalmologists in the first decade of their career

PURPOSE: To describe the main success attitudes of young ophthalmologists in the first decade of their career. METHODS: This descriptive study comprised subjects selected from a sample of ophthalmologists who were participating in a congress, using a semi-structured questionnaire. The inclusion criteria were as follows: ophthalmologists under the age of 40 years, within 5-10 years from ophthalmology residency conclusion. The subjects were asked about the three main success attitudes in their personal experience during the first years of ophthalmology practice. After the initial results, the 10 most frequently mentioned attitudes were listed and volunteers were again interviewed to choose, within the latter list, the three main attitudes. RESULTS: Forty-eight ophthalmologists were interviewed, 24 (50%) were male; the mean age was 37 years (SD: 2 years, range: 33-40 years) and the mean time from ophthalmology residency conclusion was 8 years (SD: 1 year, range: 5-10 years). The frequency of such mentioned success attitudes were as follows: to invest in professional updating (22.9%), to have a good relationship with patients and professional partners (18.8%), to prioritize individual and family happiness (12.5%), initially to work in an established group (11.1%), to work in public service (9.7%), to have their own business with a homogeneous group (7.6%), to save money (7.6%), to be ready to resume work (4.2%), to get business administration skills (4.2%), and to have professional insurance (0.7%). CONCLUSIONS: The three main success attitudes consisted in investing in professional updating (22.9%), maintaining a good relationship with patients and professional partners (18.8%), and prioritizing individual and family happiness (12.5%). Although these results should not be generalized, they are helpful not only for those ophthalmologists at the beginning of a career but also those who want to reflect on what to prioritize in their professional practice.

Formação empirica na educação superior : um estudo de caso na Faculdade de Educação Fisica da Unicamp

Universidade Estadual de Campinas. Faculdade de Educação Física

Interação entre alunos com e sem deficiencia na educação fisica escolar : validação de instrumento

Universidade Estadual de Campinas. Faculdade de Educação Física

A reclusão pubertaria no Kamayura de Ipawu : um enfoque biocultural

Universidade Estadual de Campinas. Faculdade de Educação Física

A aula de educação fisica como reprodutora de estereotipos de genero a luz da experiencia no Colegio "Inem Santiago Perez" : Santa-Fé de Bogota-Colombia

Universidade Estadual de Campinas . Faculdade de Educação Física

A cultura do lazer fisico esportivo como resultado da disciplina da Educação Fisica escolar : o caso do colegio estadual "Culto a Ciencia" de Campinas

Universidade Estadual de Campinas . Faculdade de Educação Física

O corpo urbano nas trilhas da natureza

Universidade Estadual de Campinas . Faculdade de Educação Física

Barreiras socio-culturais e lazer das pessoas portadoras de deficiencia fisica : um estudo do grupo Fraternidade Cristã de Doença e Deficiencia de Campinas, SP

Universidade Estadual de Campinas. Faculdade de Educação Física

Jogos cooperativos : o jogo e o esporte como um exercicio de convivencia

Universidade Estadual de Campinas . Faculdade de Educação Física

Lazer como pratica educativa : as possibilidades para o desenvolvimento humano

Universidade Estadual de Campinas. Faculdade de Educação Física

Educação fisica adaptada : proposta de ação metodologica para formação universitaria

Universidade Estadual de Campinas. Faculdade de Educação Física

Pedagogia do treinamento : metodo, procedimentos pedagogicos e as multiplas competencias do tecnico nos jogos desportivos coletivos

Universidade Estadual de Campinas. Faculdade de Educação Física

Tradução, adaptação cultural e estrutura fatorial do Body Shape Questionnaire, Body Esteem Scale e Body Appreciation Scale para mulheres brasileiras na meia-idade

Universidade Estadual de Campinas . Faculdade de Educação Física

Relações entre as dimensões da Imagem Corporal : um estudo em homens brasileiros

Universidade Estadual de Campinas . Faculdade de Educação Física