Hereditary Neuropathy with Liability to Pressure Palsy Presenting with Hand Drop in a Young Child

Hereditary neuropathy with liability to pressure palsy (HNPP) results from the deletion of the PMP22 gene in chromosome 17p11.2. Clinically, it presents with painless pressure palsies, typically in the 2nd and 3rd decades of life, being a rare entity in childhood. We present the case study of a six-year-old male child who presented with left hand drop that he kept for over four weeks. Electrophysiological studies suggested HNPP and genetic studies confirmed it. With this paper, we pretend to create awareness to this entity as a diagnosis to be considered in a child with painless monoparesis and to emphasize the importance of electrophysiological studies in the diagnosis

Emerging biosensing technologies for neuroinflammatory and neurodegenerative disease diagnostics

Neuroinflammation plays a critical role in the onset and progression of many neurological disorders, including Multiple Sclerosis, Alzheimer’s and Parkinson’s diseases. In these clinical conditions the underlying neuroinflammatory processes are significantly heterogeneous. Nevertheless, a common link is the chronic activation of innate immune responses and imbalanced secretion of pro and anti-inflammatory mediators. In light of this, the discovery of robust biomarkers is crucial for screening, early diagnosis, and monitoring of neurological diseases. However, the difficulty to investigate biochemical processes directly in the central nervous system (CNS) is challenging. In recent years, biomarkers of CNS inflammatory responses have been identified in different body fluids, such as blood, cerebrospinal fluid, and tears. In addition, progress in micro and nanotechnology has enabled the development of biosensing platforms capable of detecting in real-time, multiple biomarkers in clinically relevant samples. Biosensing technologies are approaching maturity where they will become deployed in community settings, at which point screening programs and personalized medicine will become a reality. In this multidisciplinary review, our goal is to highlight both clinical and recent technological advances toward the development of multiplex-based solutions for effective neuroinflammatory and neurodegenerative disease diagnostics and monitoring.IM and AC acknowledge the financial support from the Marie Curie COFUND Programme Nano TRAIN for Growth from the European Union's Seventh Framework Programme for research, technological development and demonstration under grant agreement no 600375. This article is a result of the project Nanotechnology based functional solutions (FEDERNORTE-01-0145-FEDER-000019), co-financed by Norte Portugal Regional Operational Programme (NORTE 2020), under the PORTUGAL 2020 Partnership Agreement, through the European Regional Development Fund (ERDF). PM acknowledges the Ph.D. fellowship from Fundação para a Ci?ncia e Tecnologia, Portugal (PD/BD/105751/2014)

Surgical treatment of complete penile duplication

Penile duplication is a rare anomaly with an incidence of 1 in 5,500,000. It is almost associated with other malformations like double bladder, presence of the cloaca, imperforate anus, duplication of the recto sigmoid and vertebral deformities. The authors present the surgical technique to resolve a rare case of complete penile duplication in a 4 years old child, without any other malformation

Erratum to “Gastroenteropancreatic Neuroendocrine Neoplasia Characterization in Portugal: Results from the NETs Study Group of the Portuguese Society of Endocrinology, Diabetes and Metabolism”

In the article titled "Gastroenteropancreatic Neuroendocrine Neoplasia Characterization in Portugal: Results from the NETs Study Group of the Portuguese Society of Endocrinology, Diabetes and Metabolism"[1], the affiliation for I. Claro was labeled incorrectly. The correct affiliation of the author I. Claro is Instituto Portugûes de Oncologia de Lisboa, Francisco Gentil (IPOLFG), 1099-023 Lisboa, Portugal

CRABP1, C1QL1 and LCN2 are biomarkers of differentiated thyroid carcinoma, and predict extrathyroidal extension

The prognostic variability of thyroid carcinomas has led to the search for accurate biomarkers at the molecular level. Follicular thyroid carcinoma (FTC) is a typical example of differentiated thyroid carcinomas (DTC) in which challenges are faced in the differential diagnosis. Methods: We used high-throughput paired-end RNA sequencing technology to study four cases of FTC with different degree of capsular invasion: two minimally invasive (mFTC) and two widely invasive FTC (wFTC). We searched by genes differentially expressed between mFTC and wFTC, in an attempt to find biomarkers of thyroid cancer diagnosis and/or progression. Selected biomarkers were validated by real-time quantitative PCR in 137 frozen thyroid samples and in an independent dataset (TCGA), evaluating the diagnostic and the prognostic performance of the candidate biomarkers. Results: We identified 17 genes significantly differentially expressed between mFTC and wFTC. C1QL1, LCN2, CRABP1 and CILP were differentially expressed in DTC in comparison with normal thyroid tissues. LCN2 and CRABP1 were also differentially expressed in DTC when compared with follicular thyroid adenoma. Additionally, overexpression of LCN2 and C1QL1 were found to be independent predictors of extrathyroidal extension in DTC. Conclusions: We conclude that the underexpression of CRABP1 and the overexpression of LCN2 may be useful diagnostic biomarkers in thyroid tumours with questionable malignity, and the overexpression of LCN2 and C1QL1 may be useful for prognostic purposes.This work was financed by FEDER - Fundo Europeu de Desenvolvimento Regional funds through the COMPETE 2020 - Operacional Programme for Competitiveness and Internationalisation (POCI), Portugal 2020, and by Portuguese funds through FCT - Fundação para a Ciência e a Tecnologia/ Ministério da Ciência, Tecnologia e Inovação in the framework of the project "Institute for Research and Innovation in Health Sciences" (POCI-01-0145-FEDER-007274). Further funding from the project "Advancing cancer research: from basic knowledgment to application";NORTE-01-0145-FEDER-000029; “Projetos Estruturados de I&D&I”, funded by Norte 2020 – Programa Operacional Regional do Norte; The study was funded by grants from the Research Council of Norway through its Centers of Excellence funding scheme (project number 179571). The funding organizations do not have any interference in the design of the study and collection, analysis, and interpretation of data and in writing the manuscript

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Avaliação e tratamento do doente com acne – Parte I: Epidemiologia, etiopatogenia, clínica, classificação, impacto psicossocial, mitos e realidades, diagnóstico diferencial e estudos complementares

O Portuguese Acne Advisory Board (PAAB), grupo de dermatologistas portugueses que, à semelhança de grupos congéneres internacionais, tem dedicado particular atenção à definição de linhas de orientação para o tratamento da acne, pretende que o presente documento constitua uma ferramenta útil na abordagem dos doentes com esta patologia. Elaborou-se um dossier, para educação médica contínua, subdividido em 2 partes: Parte I – etiopatogenia e clínica; Parte II – abordagem terapêutica. Nesta Parte I, revêem-se os principais aspectos da clínica e da fisiopatogenia da acne à luz dos conhecimentos actuais. Discute-se a importância do impacto psicológico e social desta entidade e analisam-se os principais mitos e realidades com ela relacionados. Descrevem-se, sucintamente, as patologias mais relevantes no diagnóstico diferencial das lesões de acne. Enumeram-se as indicações para estudo hormonal, bem como os exames a efectuar nos doentes com esta patologia. The Portuguese Acne Advisory Board (PAAB), a group of Portuguese dermatologists with a special interest in acne, develop, as other international groups in this field, consensus recommendations for the treatment of acne. Overall, the goal is to provide a practice guideline to all physicians dealing with this entity. The continuing medical education dossier was divided in two parts: Part I – etiopathogeny and clinical features; Part II – therapy. This Part I reviews acne pathophysiology, clinical aspects, psychological and social impact and several myths surrounding this disease. Some other entities relevant for the differential diagnosis are described. The need of hormonal evaluation is also discusse

Avaliação e tratamento do doente com acne - Parte II: tratamento tópico, sistémico e cirúrgico, tratamento da acne na grávida, algoritmo terapêutico

O Portuguese Acne Advisory Board (PAAB), grupo de dermatologistas portugueses que, à semelhança de grupos congéneres internacionais, tem dedicado particular atenção à definição de linhas de orientação para o tratamento da acne, pretende que o presente documento constitua uma ferramenta útil na abordagem dos doentes com esta patologia. Elaborou-se um dossier, para educação médica contínua, subdividido em 2 partes: Parte I – etiopatogenia e clínica; Parte II – abordagem terapêutica. Nesta Parte II discute-se a abordagem terapêutica – tópica e sistémica – em cada forma clínica de acne, dando particular ênfase aos retinóides e aos antimicrobianos, e salientam-se as estratégias a adoptar para limitar a crescente resistência bacteriana aos antibióticos. Referem-se as indicações específicas para terapêutica hormonal e analisam-se as particularidades do tratamento da acne na grávida e lactante. Descrevem-se algumas técnicas para correcção das cicatrizes da acne. Por último, publica-se um algoritmo que pretende ilustrar a classificação da acne e definir, para cada tipo clínico, a abordagem terapêutica consensualmente recomendada

Medical audit: prenatal care program in a health center in southern Brazil

INTRODUCTION: A medical audit on the prenatal care program in the Vila Municipal Health Center, Pelotas, RS, Brazil, was described with the purpose of verifying the aspects of the medical process and improving the program's effectiveness. METHODS: Data from prenatal specific records were collected. Pregnant women with delivery due date in 1997 and in the first semester of 1998 were included in the study. Women registered in the program when they were 4-month pregnant and who had had at least 5 visits were also enrolled. Bivariate analysis was used to detect health care indicators. RESULTS: A total of 73 pregnant women were registered in the program in 1997 and 75 in 1998. In 1997, the average number of medical visits was 5.2, while in 1998 this average was 6.2. The difference between the means was statistically significant (pOBJETIVO: Descreve-se a auditoria médica realizada entre as mulheres que se inscreveram em programa de pré-natal com o objetivo de verificar as características da assistência à gestação e de estabelecer diretrizes de atenção. MÉTODOS: Realizou-se levantamento epidemiológico dos cartões das gestantes inscritas no Programa de Pré-natal do Posto de Saúde da Vila Municipal, Pelotas, RS, com data provável de parto durante 1997 e no primeiro semestre de 1998. Foram incluídas as mulheres ingressadas no Programa até o quarto mês de gestação e que tiveram cinco consultas no mínimo. Foi utilizada a análise bivariada para detectar as condições marcadoras da assistência médica. RESULTADOS: Em 1997, 73 mulheres se inscreveram no Programa de Pré-natal e, em 1998, 75. A média de consultas durante o pré-natal foi de 5,2 em 1997 e 6,2 em 1998. Essa diferença foi significativa (