A5007043830- BRCA gene mutations in cancer
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Nerve injury and regeneration
- Cancer Genomics and Diagnostics
- Genetic factors in colorectal cancer
- Congenital heart defects research
- Nerve Injury and Rehabilitation
- Trace Elements in Health
- Glycosylation and Glycoproteins Research
- Genital Health and Disease
- Nutrition, Genetics, and Disease
- Immunodeficiency and Autoimmune Disorders
- Neurological diseases and metabolism
- Restraint-Related Deaths
- CRISPR and Genetic Engineering
- Metabolism and Genetic Disorders
- Connective tissue disorders research
- Genetic Syndromes and Imprinting
- Cancer Mechanisms and Therapy
- Epigenetics and DNA Methylation
- Advanced Breast Cancer Therapies
- Cancer-related gene regulation
- Helicobacter pylori-related gastroenterology studies
Hospitais da Universidade de Coimbra
2014-2023
University of Beira Interior
2019-2023
Hospital de São João
2022-2023
Rutgers, The State University of New Jersey
2018-2023
Instituto Português de Oncologia Francisco Gentil
2021
IPO Porto
2020
Rutgers Sexual and Reproductive Health and Rights
2019
Rütgers (Germany)
2019
Instituto de Investigación Biomédica de A Coruña
2019
Complexo Hospitalario Universitario A Coruña
2019
Abstract Pathogenic variants in ANKRD11 or microdeletions at 16q24.3 are the cause of KBG syndrome (KBGS), a neurodevelopmental characterized by intellectual disability, dental and skeletal anomalies, characteristic facies. The gene encodes ankyrin repeat-containing protein 11A transcriptional regulator, which is expressed brain implicated neural development. Syndromic conditions caused pathogenic epigenetic regulatory genes show unique patterns DNA methylation (DNAm) peripheral blood,...
Abstract Woodhouse–Sakati Syndrome is a very rare autosomal recessive disorder caused by pathogenic variants in the DCAF17 gene, which encodes DDB1‐ and CUL4‐associated factor 17. It multisystemic characterized hypogonadism, adolescent‐ to young adult‐onset diabetes mellitus, hypothyroidism, alopecia. Neurologic involvement includes childhood‐onset moderate bilateral sensorineural hearing loss, mild intellectual disability of extrapyramidal findings, dysarthria, dysphagia. Brain imaging...
Within the most recent years, of cancer patients are older age, which implies necessity to a better understanding aging and connection. This work presents LifeChamps solution built on top cutting-edge Big Data architecture HPC infrastructure concepts. An innovative was envisioned supported by Value Reference Model answering system requirements from high low level logical physical perspective, following "4+1 architectural model".
Abstract PURPOSERecent studies questioned the role of BRCA2 as a prognostic factor. Although differences between clinicopathological characteristics BRCA1-breast cancer (BC) and BRCA2-BC have been described, long-term follow-up data related to prognosis survival is lacking. We report analysis our cohort BRCA1/2-BC patients (pts) included in multidisciplinary program. This includes c.156_157insAlu carriers, which was previously described Portuguese founder mutation. PATIENTS AND METHODS All...
Cancer survivors harboring inherited pathogenic variants in the breast cancer (BC) susceptibility genes BRCA1 or BRCA2 are at increased risk of ovarian (OC) and also contralateral BC. For these women, risk-reducing surgery (RRS) may contribute to management. However, women with locally advanced metastatic (ABC) were excluded from clinical trials evaluating benefit procedures BRCA1/2 carriers, thus, current guidelines do not recommend RRS this specific setting. Although ABC remains an...
Abstract The widespread availability of comparative genomic hybridization (CGH) array analysis has led to the discovery several microdeletion‐associated syndromes and identified possible genetic causes for patients with previously unexplained clinical features. We report case four unrelated who share common characteristics, namely failure thrive, developmental delay, dysmorphic features, congenital anomalies. CGH revealed that all had a de novo microdeletion at 16q22.1. In this report, we...
Portugal is currently implementing a pilot project to screen for sickle cell disease during national newborn screening. This started in the region of Lisbon and Tagus valley where there higher frequency African population. Anticipating expansion this screening rest territory, question arises: how deal with cases identified trait carriers?
AbstractMicroscopic evaluation of the macular region retina is essential in preclinical drug safety studies cynomolgus monkeys. A number therapeutic agents are suspected causing damage to macula humans; therefore, should be evaluated Histopathologic examination fovea may required for certain ocular drugs human risk assessment. Using inferior oblique muscle as a landmark, including was obtained 100% 20 eye sections. It easier obtain just than section. Measurements (point insertion), fovea,...
Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | 1479-6848 (online)
We describe the development of a new surgical procedure to be used in treatment disruptive brachial plexus (BP) lesions. It is centered on an artificial device designed assist nerve regeneration by providing confined and protected environment. Nerve fibers can repair inside device, while adverse massive scar-tissue formation limited outside device. Steps were (1) definition rationale, (2) design (3) choice vivo translational model, (4)refinement procedure, (5) performance pilot study as...
We report the case of an 8-year-old boy with delayed psychomotor development, dysarthria, choreoathetosis, joint mild hyperlaxity, coarse hair, dry lax skin and facial dimorphisms. Cerebral magnetic resonance revealed diffuse vascular tortuosity, multiple loops in some arteries Willis ’ circle. Clinical presentation, corroborated by imagiological findings, raised suspicion a disorder copper metabolism. Serum ceruloplasmin were decreased lateral skull X-rays demonstrated bilateral occipital...
We report the case of an 8-year-old boy with delayed psychomotor development, dysarthria, choreoathetosis, joint mild hyperlaxity, coarse hair, dry lax skin and facial dimorphisms. Cerebral magnetic resonance revealed diffuse vascular tortuosity, multiple loops in some arteries Willis ’ circle. Clinical presentation, corroborated by imagiological findings, raised suspicion a disorder copper metabolism. Serum ceruloplasmin were decreased lateral skull X-rays demonstrated bilateral occipital...