A5054332655- Thyroid Disorders and Treatments
- Diabetes and associated disorders
- Ion Transport and Channel Regulation
- Sexual Differentiation and Disorders
- Chronic Obstructive Pulmonary Disease (COPD) Research
- Growth Hormone and Insulin-like Growth Factors
- Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
- Thyroid Cancer Diagnosis and Treatment
- Diabetes Treatment and Management
- Pancreatic function and diabetes
- Diabetes Management and Research
- Childhood Cancer Survivors' Quality of Life
- Hormonal Regulation and Hypertension
- Appendicitis Diagnosis and Management
- Pulmonary Hypertension Research and Treatments
- Impact of Technology on Adolescents
- Electrolyte and hormonal disorders
- Multiple Sclerosis Research Studies
- Neonatal Health and Biochemistry
- Maternal and Neonatal Healthcare
- Genetics and Neurodevelopmental Disorders
- Intestinal Malrotation and Obstruction Disorders
- Trace Elements in Health
- Liver Diseases and Immunity
- Rabies epidemiology and control
Unidade Hospitalar de Bragança
2024-2025
Hospital Braga
2015-2024
Sociedade Portuguesa de Cardiologia
2022-2023
Medicina
2023
Diabetes Australia
2023
San Antonio College
2021
Hospital Center of Cova da Beira
2020
Marymount University
2016
Centro Hospitalar de Trás os Montes e Alto Douro
2015
Endocrine Society
2014
Subclinical hypothyroidism (SCH) is defined by elevated thyroid-stimulating hormone (TSH) levels (>5 mUI/L) and normal total free thyroxine (fT4). There ongoing debate over whether mild SCH should be treated. This study aims to assess the clinical course of normoponderal pediatric patients with SCH.
Costello syndrome is a rare genetic disorder associated with developmental delay, short stature, and pubertal delay. However, few cases of precocious puberty have been reported, reflecting the complex regulation hypothalamic-pituitary-gonadal axis affected by Harvey rat sarcoma viral oncogene homolog (HRAS) gene mutations. We present case boy syndrome, heterozygous for mutation in HRAS gene, first seen pediatric endocrinology consultation at age nine years seven months central stature (-0.61...
Congenital hypogonadotropic hypogonadism (CHH) is characterized by lack of normal pubertal development due to deficient gonadotropin-releasing hormone (GnRH) secretion or action, and caused genetic defects in several genes. Mutations the CHD7 gene cause CHARGE syndrome (Coloboma eye, Heart defects, Atresia choanae, Retardation growth development, Genital hypoplasia Ear abnormalities), but have also been found patients with isolated CHH. The aim this study was identify mutations Fifty...
Maturity-onset diabetes of the young (MODY) is a frequently misdiagnosed type diabetes, which characterized by early onset, autosomal dominant inheritance, and absence insulin dependence. The most frequent subtypes are due to mutations GCK (MODY 2), HNF1A 3), HNF4A 1) genes. We undertook first multicenter genetic study MODY in Portuguese population. GCK, HNF1A, genes were sequenced 46 unrelated patients that had at least two three classical clinical criteria for (age diagnosis, family...
Cowden syndrome (CS) is a rare dominantly inherited multisystem disorder, characterized by an extraordinary malignant potential. In 80% of cases, the human tumor suppressor gene phosphatase and tensin homolog (PTEN) mutated. We present case 17-year-old boy with genetically confirmed CS Graves’ disease (GD). At age 15, he presented intention tremor, palpitations, marked anxiety. On examination, had macrocephaly, coarse facies, slight prognathism, facial trichilemmomas, abdominal keratoses,...
A previously healthy 12-year-old boy was observed in the emergency department due to pain and erythaema left shin for past 2 weeks. He was discharged with flucloxacilin cellulitis. One week later, he returned oedema of shin, palpable nodules purple discolouration (figure 1). The right leg normal. Oropharyngeal hyperaemia observed. Figure 1 Erythaema, shin. Complementary study revealed …
A gastrenterite aguda (GEA) continua a ser uma das patologias mais frequentes em idade pediatrica, associada morbi-mortalidade importante. Nos ultimos anos foram desenvolvidas orientacoes clinicas pela Sociedade Europeia de Gastrenterologia,Hepatologia e Nutricao Pediatrica/Sociedade Doencas Infecciosas Pediatricas Latinoamericana Gastrenterologia Pediatrica, Hepatologia para abordagem tratamento da GEAem pediatrica.Avaliamos as recomendacoes ambos os grupos destacamos principais semelhancas...
Research Articles| May 27 2008 Action of Guanethidine on the Pressor Effect Angiotensin in Adrenalectomized Dogs Subject Area: Pharmacology R.S de Moura; Moura Faculdade Medicina da Universidade Federal do Rio Janeiro, Departamento Farmacologia e Terapêutica Experimental, Janeiro Search for other works by this author on: This Site PubMed Google Scholar S.A Souza Martins; Martins L. Sollero (1970) 3 (1): 15–20. https://doi.org/10.1159/000136057 Article history Received: January 04 1969...
Objectives: Evaluate the celiac disease (CD) markers, within scope of its screening, in a pediatric population with diagnosis type 1 diabetes (T1D) at Hospital de Braga (HB) and determine prevalence CD sample. Reflect on screening algorithm applied this population. Subjects methods: Retrospective observational study 94 patients diagnosed T1D age 10 years or younger, followed up HB Outpatient Diabetology Consultation, including those referred from other [...]
Abstract We report a case of 15-year-old boy with autoimmune hepatitis lacking common serologic markers and normal gammaglobulinemia associated immune thrombocytopenia family history psoriasis. He presented to our department 4-year cervical posterior lymphadenopathy recent petechiae. Previous laboratory results 6 months before already showed hepatocellular injury. After exclusion other causes, the diagnosis was made based on clinical grounds, disorder histological features liver biopsy. The...
Introduction Hereditary Transthyretin Amyloidosis is a rare, progressive and life-threatening systemic disease with predominant peripheral autonomic nervous system involvement caused by mutation of the transthyretin protein. The most common TTR regarding to ATTRv substitution Methionine for Valine at position 30 that predisposes form aggregates fibrils.Methods S100A8 protein levels were measured in plasma samples from ATTRV30M patients healthy donors. Additionally, S100A8/9 Schwann cells...
Ramsay Hunt Syndrome (RHS) arises due to the reactivation of varicella-zoster virus (VZV) manifesting as peripheral facial paralysis (PFP), periauricular pain, vesicular eruptions in external auditory canal and ear, vestibulocochlear dysfunction. Although RHS is uncommon children, it ranks second most prevalent cause non-traumatic childhood. Diagnosis hinges on clinical evaluation, recommended treatment involves a combination high-dose corticosteroids acyclovir. This case study focuses...
What is the contribution of genetic defects in Portuguese patients with congenital hypogonadotropic hypogonadism (CHH)?