Apical hypertrophic cardiomyopathy : a review

Trabalho Final do Curso de Mestrado Integrado em Medicina, Faculdade de Medicina, Universidade de Lisboa, 2014

Aniridia congénita familiar : caso clínico

Trabalho Final do Curso de Mestrado Integrado em Medicina, Faculdade de Medicina, Universidade de Lisboa, 2014

Carcinoma renal em doentes com leiomiomatose hereditária e cancro de células renais : a propósito de um caso clínico

Trabalho Final do Curso de Mestrado Integrado em Medicina, Faculdade de Medicina, Universidade de Lisboa, 2014

Angioedema hereditário : um caso de angioedema recorrente

Trabalho Final do Curso de Mestrado Integrado em Medicina, Faculdade de Medicina, Universidade de Lisboa, 2014

Síndrome de Leigh : descrição de um caso clínico e revisão teórica

Trabalho Final do Curso de Mestrado Integrado em Medicina, Faculdade de Medicina, Universidade de Lisboa, 2014

Apendicite como apresentação inicial de adenocarcinoma gástrico

Trabalho Final do Curso de Mestrado Integrado em Medicina, Faculdade de Medicina, Universidade de Lisboa, 2014

Macroglossia como manifestação de amiloidose : caso clínico

Trabalho Final do Curso de Mestrado Integrado em Medicina, Faculdade de Medicina, Universidade de Lisboa, 2014

Association of secondary glioblastoma and pituitary adenoma : case report

Trabalho Final do Curso de Mestrado Integrado em Medicina, Faculdade de Medicina, Universidade de Lisboa, 2014

Between nuclear armament and economic pragmatism: Is North Korea facing change? Asia Policy Brief 2013/04, September 2013

The balance a year and a half after the meanwhile second hereditary power transfer to Kim Jong-Un (Kim Chŏng-ŭn), grandson of the founder of the state, is undecided. The breakdown of the system, predicted by many analysts, has not happened yet. Neither have the reforms that were expected from the young man who has supposedly been educated in Switzerland. The country is not in stagnation however – quite the opposite. What has happened in North Korea in the last two years? What development trends are there and how can other countries approach them? These questions are discussed in the light of the tense security-political and humanitarian environment and the corresponding risks in this Asia Policy Brief.

Next-generation sequencing of iron-metabolism related genes in Portuguese patients with iron overload: novel pathogenic genetic variants

Objective: In Southern European countries up to one-third of the patients with hereditary hemochromatosis (HH) do not present the common HFE risk genotype. In order to investigate the molecular basis of these cases we have designed a gene panel for rapid and simultaneous analysis of 6 HH-related genes (HFE, TFR2, HJV, HAMP, SLC40A1 and FTL) by next-generation sequencing (NGS). Materials and Methods: Eighty-eight iron overload Portuguese patients, negative for the common HFE mutations, were analysed. A TruSeq Custom Amplicon kit (TSCA, by Illumina) was designed in order to generate 97 amplicons covering exons, intron/exon junctions and UTRs of the mentioned genes with a cumulative target sequence of 12115bp. Amplicons were sequenced in the MiSeq instrument (IIlumina) using 250bp paired-end reads. Sequences were aligned against human genome reference hg19 using alignment and variant caller algorithms in the MiSeq reporter software. Novel variants were validated by Sanger sequencing and their pathogenic significance were assessed by in silico studies. Results: We found a total of 55 different genetic variants. These include novel pathogenic missense and splicing variants (in HFE and TFR2), a very rare variant in IRE of FTL, a variant that originates a novel translation initiation codon in the HAMP gene, among others. Conclusion: The merging of TSCA methodology and NGS technology appears to be an appropriate tool for simultaneous and fast analysis of HH-related genes in a large number of samples. However, establishing the clinical relevance of NGS-detected variants for HH development remains a hard-working task, requiring further functional studies.

Syphilis et mariage /

Includes bibliographical references.

Charles Darwin and the Origin of species; addresses, etc., in America and England in the year of the two anniversaries,

Includes bibliographical references and index.

Lectures on heredity delivered under the auspices of the Washington Academy of Sciences.

"Reprinted from the Journal of the Washington Academy of Sciences, vol. 7, 1917."

On the wasting diseases of infants and children /

Includes index.

Psychology from the standpoint of a behaviorist.

Problems and scope of psychology -- Psychological methods -- The receptors and their stimuli -- Neuro-physiological basis of action -- The organs of response : muscles and glands -- Hereditary modes of response : emotions -- Hereditary modes of response : instinct -- The genesis and retention of explicit bodily habits -- The genesis and retention of explicit and implicit language habits -- The organism at work -- Personality and its disturbance.