PROP1 and CTNNB1 expression in adamantinomatous craniopharyngiomas with or without β-catenin mutations

INTRODUCTION: Activating mutations in exon 3 of the β-catenin gene are involved in the pathogenesis of adamantinomatous craniopharyngiomas. Recently, the interaction between β-catenin and PROP1 has been shown to be responsible for pituitary cell lineage determination. We hypothesized that dysregulated PROP1 expression could also be involved in the pathogenesis of craniopharyngiomas OBJECTIVES: To determine whether dysregulated gene expression was responsible for tumor pathogenesis in adamantinomatous craniopharyngiomas, the β-catenin gene was screened for mutations, and the expression of the β-catenin gene and PROP1 was evaluated. β-catenin gene was amplified and sequenced from 14 samples of adamantinomatous craniopharyngiomas. PROP1 and β-catenin gene expression was assessed by real-time RT-PCR from 12 samples, and β-catenin immunohistochemistry was performed on 11 samples. RESULTS: Mutations in the β-catenin gene were identified in 64% of the adamantinomatous craniopharyngiomas samples. Evidence of β-catenin gene overexpression was found in 71% of the tumors with β-catenin mutations and in 40% of the tumors without mutations, and β-catenin immunohistochemistry revealed a nuclear staining pattern for each of the analyzed samples. PROP1 expression was undetectable in all of the tumor samples. CONCLUSION: We found evidence of β-catenin gene overexpression in the majority of adamantinomatous craniopharyngiomas, and we also detected a nuclear β-catenin staining pattern regardless of the presence of a bcatenin gene mutation. These results suggest that WNT signaling activation plays an important role in the pathogenesis of adamantinomatous craniopharyngiomas. Additionally, this study was the first to evaluate PROP1 expression in adamantinomatous craniopharyngiomas, and the absence of PROP1 expression indicates that this gene is not involved in the pathogenesis of this tumor, at least in this cohort

Socioeconomic Predictors of the Employment of Migrant Care Workers by Italian Families Assisting Older Alzheimer's Disease Patients: Evidence from the Up-Tech Study

Background: The availability of family caregivers of older people is decreasing in Italy as the number of migrant care workers (MCWs) hired by families increases. There is little evidence on the influence of socioeconomic factors in the employment of MCWs. Method: We analyzed baseline data from 438 older people with moderate Alzheimer's disease (AD), and their family caregivers enrolled in the Up-Tech trial. We used bivariate analysis and multilevel regressions to investigate the association between independent variables - education, social class, and the availability of a care allowance - and three outcomes - employment of a MCW, hours of care provided by the primary family caregiver, and by the family network (primary and other family caregivers). Results: The availability of a care allowance and the educational level were independently associated with employing MCWs. A significant interaction between education and care allowance was found, suggesting that more educated families are more likely to spend the care allowance to hire a MCW. Discussion: Socioeconomic inequalities negatively influenced access both to private care and to care allowance, leading disadvantaged families to directly provide more assistance to AD patients. Care allowance entitlement needs to be reformed in Italy and in countries with similar long-term care and migration systems. � 2015 The Author 2015. Published by Oxford University Press on behalf of The Gerontological Society of America. All rights reserved

Diagnosis of flexible flatfoot in children: a systematic clinical approach

Abstract The goal of this study was to provide measures of symptoms and signs in a consecutive case series of children with flexible flatfoot based on a systematic clinical approach. Fifty-three children (age range, 10-14 years) previously diagnosed with flexible flatfoot were evaluated by a structured interview and clinical assessment. Most patients had foot symptoms (65.3% of feet) and functional limitation (68.3%). Symptoms included a sensation of discomfort (11.3%), such as early tiredness or difficulties during prolonged standing or walking, and pain (54%), mostly located in the plantar aspect of the foot (28.7%) and the medial hindfoot (18.8%). Body mass index was positively correlated to the presence of symptoms and their severity. Even if an enlarged footprint was present in 93.1% of feet, objective assessment evidenced the presence of heel valgus only in 83% of feet. Forefoot adduction was present in 22% of feet. Jack's test provided varus correction in only 54% of feet. Internal knee rotation was the most common associated disalignment, present in 43.6% of limbs. Symptoms were significantly correlated to knee alignment, and functional limitation was correlated to heel valgus. Standing balance on 1 leg was significantly correlated to footprint grading severity. A systematic clinical approach to assess children with flexible flatfoot should always be recommended for the correct diagnosis and the associated treatment management based on symptoms, functional limitation, and foot dysfunction. Functional assessment by specific tests should be included in the examination, as evidence exists that morphology and function are not necessarily related

Estenose esofágica em duas cadelas após ovário-histerectomia: relato de caso

RESUMO A estenose esofágica benigna é uma afecção rara em pequenos animais, comumente secundária a esofagites ulcerativas. O refluxo gastroesofágico, frequente durante procedimentos anestésicos, é a principal causa de esofagite grave, com consequente formação de cicatriz esofágica. O presente trabalho tem por objetivo descrever dois casos de estenose esofágica ocorrentes após ovário-histerectomia, com destaque para os procedimentos diagnósticos realizados. Em ambos os casos, a combinação dos sinais clínicos sugestivos e os achados de esofagograma e esofagoscopia foram determinantes. No primeiro caso, devido ao tempo avançado de desenvolvimento dos sinais clínicos, o paciente veio a óbito antes mesmo que a intervenção direta da região de estenose fosse realizada. Já no segundo, o procedimento de gastrostomia para melhor manejo alimentar, associado à dilatação esofágica via esofagoscopia e à terapia com medicamentos antiácidos, resultou em melhora clínica

Osteocondromatose em gato: relato de caso

RESUMO A osteocondromatose é caracterizada por nódulos únicos ou múltiplos decorrentes de um crescimento ósseo excessivo benigno. É encontrada em cães, gatos, equinos e humanos. Em felinos, tem maior incidência dos dois aos quatro anos de idade. A etiologia em gatos está relacionada ao vírus da leucemia felina, e também já foi encontrada relação com o fibrossarcoma. A manifestação clínica depende do local acometido e do tamanho da lesão. O diagnóstico definitivo é por meio de histopatologia e o prognóstico é desfavorável, pois ocorrem muitas recidivas. Este relato de caso objetiva descrever a apresentação dessa enfermidade em um felino jovem

Torção de cólon em um felino doméstico: relato de caso

RESUMO A torção de cólon em felinos é uma patologia rara. Os principais sinais apresentados são de abdome agudo e podem levar o animal rapidamente a óbito. O presente trabalho tem o objetivo de relatar um caso de torção de cólon em um felino. Este é o primeiro relato dessa enfermidade no Brasil. O diagnóstico foi realizado por meio do histórico e de exames de imagem. O animal foi encaminhado para a cirurgia, mas, devido à gravidade e extensão das lesões intestinais, foi realizada a eutanásia