Functionality Assessment of Patients With Cleft Hands.

BACKGROUND: Ectrodactyly, commonly referred to as cleft hand, is a rare pathology characterized by a deficiency and/or complete absence of the central ray in each hand. In order to customize treatment and improve the patient's quality of life, a more detailed functional evaluation is required. Although several studies evaluate functionality in different types of cleft hands, there are only a few studies that show self-reported evaluations. The objective of this study is to assess the hand function of cleft hand patients. METHODS: An observational retrospective study was performed on 12 cleft hand patients who were treated between 2008 and 2018. There were 8 male patients and 4 female patients. Patients were divided into 2 groups according to their ages: (Group 1) 6 patients between 1 and 7 years of age, and (Group 2) 6 patients between 8 and 18 years of age, respectively. Each group was sub-stratified into 5 subgroups according to the classification system created by Manske and Halikis. RESULTS: Regardless of age, intragroup hand type comparisons within Groups 1 and 2 did not demonstrate statistically significant differences (P > 0.05) between hand outcomes according to Manske and Halikis classification. Comparison between cleft hand patients and their age matched controls demonstrated statistically significant differences (P < 0.05), as the patients in the control group had higher outcome scores. CONCLUSIONS: Regardless of cleft hand type and patient age, patients with cleft hands experience impaired hand function and present lower outcome scores in comparison to their age matched controls.

Protein identification from dried nipple aspirate fluid on Guthrie cards using mass spectrometry.

Nipple aspirate fluid (NAF) requires investigation as a potential source of biomarkers for early diagnosis or risk assessment in breast cancer and other breast disorders. The present study demonstrated that proteins were easily extracted from dried NAF spots on Guthrie cards and were suitable for mass spectrometry analysis. NAF was obtained from 80 women, collected on Guthrie cards, between 2007 and 2010. The NAF-proteins were extracted from the card by incubating the card in water. These proteins were then quantified and separated using one-dimensional, 12% SDS-PAGE, gel electrophoresis and on high-resolution gradient gels at different concentrations (4-12, 8-16 and 4-20%). The bands with the most abundant proteins were excised from the gradient gels and the proteins were identified by liquid chromatography quadrupole time of flight. Immunoglobulins, Zn-α2-glicoprotein, apoliprotein D and prolactin inducible protein were among those identified. The NAF-Guthrie card collection method has not been applied previously, however, NAF proteins have been identified using other collecting techniques, confirming the feasibility of the NAF Guthrie card collection method for analyzing the proteins within NAF. The NAF-Guthrie card collecting method has multiple advantages, including being inexpensive, non-invasive, reliable and painless, and the cards can be stored at room temperature. Examining NAF may assist in identifying individuals at a higher risk of breast cancer and in improving patient prognosis.

Detecção dos polimorfismos 213AG e 13494GA no gene TP53 em carcinoma ductal de mama: relato de caso / Detection of Polymorphisms 213AG and 13494GA in the TP53 Gene in Breast in Situ Ductal Carcinoma: Case Report

Introdução: A caracterização das alterações moleculares em lesões mamárias suspeitas para malignidade ainda não são bem definidas. Sabe-se que a detecção precoce do câncer de mama aumenta consideravelmente as chances de cura. Com isso, a busca por marcadores tumorais, a fim de auxiliar no diagnóstico precoce e predizer com confiança se essas lesões são benignas ou malignas, se faz necessária. No processo de carcinogênese, diversas são as alterações de expressão gênica, na qual envolve vários genes-chave que controlam o ciclo celular. Entre os genes, o TP53 tem sido amplamente pesquisado por apresentar mutações e variantes que podem estar envolvidas na carcinogênese mamária. Relato de caso: Paciente do sexo feminino, 45 anos, branca, casada, residente do Estado do Rio de Janeiro com carcinoma ductal in situ grau 2, multifocal. Lesão positiva para os receptores hormonais de estrogênio e progesterona, com ausência de mutação somática e com presença dos variantes 213A→G e 13494G→A no éxon 6 e intron 6 do gene TP53. Conclusão: Embora tenham sido considerados individualmente neutros, não existem estudos que tenham avaliado o efeito sinérgico dos variantes 213A→G e 13494G→A

Introduction:The characterization of molecular alterations in breast lesions suspicious for malignancy is not welldefined.it is known that early detection of breast cancer greatly increases the chances of cure. Thus, it is required the survey for tumor markers may help establish an early diagnosis and confidently predict whether these lesions arebenign or malignant.in the process of carcinogenesis, there are several changes in gene expression, which involvesseveral key genes that control the cell cycle.among the genes,TP53has been widely studied for its mutations andvariations, which may be involved in breast carcinogenesis...