A5082198486- Adrenal and Paraganglionic Tumors
- Renal function and acid-base balance
- Cardiac tumors and thrombi
- Congenital heart defects research
- Electrolyte and hormonal disorders
- Genomic variations and chromosomal abnormalities
- Abdominal Surgery and Complications
- Hormonal Regulation and Hypertension
- Thyroid Cancer Diagnosis and Treatment
- Cell Adhesion Molecules Research
- Trauma, Hemostasis, Coagulopathy, Resuscitation
- Congenital Heart Disease Studies
- Blood groups and transfusion
- Wnt/β-catenin signaling in development and cancer
- Poisoning and overdose treatments
- Ion Transport and Channel Regulation
- Celiac Disease Research and Management
- Autoimmune Bullous Skin Diseases
- Cancer, Hypoxia, and Metabolism
- Eosinophilic Disorders and Syndromes
- Adrenal Hormones and Disorders
- Tracheal and airway disorders
- Cardiac, Anesthesia and Surgical Outcomes
- Parvovirus B19 Infection Studies
- Cytomegalovirus and herpesvirus research
Hospital de Santa Maria
2017-2021
Hospital do Divino Espírito Santo
2014-2018
University of Toronto
2006
The rearrangements of the 22q11.2 chromosomal region, most frequently deletions and duplications, have been known to be responsible for multiple congenital anomaly disorders. These are implicated in syndromes that some phenotypic resemblances. While deletion, also as DiGeorge/Velocardiofacial syndrome, has common features include cardiac abnormalities, thymic hypoplasia, characteristic face, hypocalcemia, cognitive delay, palatal defects, velopharyngeal insufficiency, other malformations,...
The rearrangements in the 22q11.2 chromosomal region, responsible for deletion and microduplication syndromes, are frequently associated with congenital heart disease (CHD). present work aimed to identify genetic basis of CHD 87 patients from São Miguel Island, Azores, through detection copy number variants (CNVs) region. These structural were searched using multiplex ligation-dependent probe amplification (MLPA). In CNVs, we additionally performed fluorescent situ hybridization (FISH)...
In children, the most common cause of an elevated anion gap (AG) with ketonemia, ketonuria, hyperglycemia, and glycosuria is diabetic ketoacidosis. However, when clinical history not clear, other causes must be considered. A 9-month-old girl was transferred to our pediatric intensive care unit (PICU) because severe metabolic acidosis. On admission, she presented Kussmaul breathing, tachycardia, irritability, fever. Blood gasses revealed acidosis superimposed respiratory alkalosis AG. Fluid...
A 15-year-old boy of black ethnicity presented with anorexia, fatigue and weight loss for 3 months. The patient’s medical record included malaria infection at the age 18 months diagnosis HIV 7 years treated with Tenofovir (TDF)/Emtricitabine (FTC)+ Efavirenz (EFV). adolescent first went to a Congo’s Hospitalar Unit, where antiretroviral (ART) therapy was changed TDF/FTC+ Lopinavir (LPV)/ritonavir (r) due elevated viral load low CD4+ T lymphocytes. compliance irregular, 1 month later he...
Coeliac disease (CD) is an autoimmune disease, characterised by a permanent sensitivity to gluten. It being progressively recognised as multisystemic with multiple extraintestinal manifestations. Skin conditions (eg, dermatitis herpetiformis) are example of its manifestations; however, underlying mechanisms still not well understood. This article presents three cases uncommon skin in patients history CD. Two them concern linear IgA bullous dermatosis and erythema nodosum, which have been...
Primary pigmented nodular adrenal disease (PNNAD) is a rare cause of Cushing syndrome particularly during childhood and adolescence. Females are preferentially affected. The present work aimed at assessing if there relationship between puberty the development due to PPNAD. We have followed an extended family with Carney complex (CNC) dominantly inherited mutation gene encoding regulatory subunit 1alpha (R1A) protein kinase A (PRKAR1A). large majority members presenting PPNAD were women (six...
Primary pigmented nodular adrenal disease (PNNAD) is a rare cause of Cushing syndrome particularly during childhood and adolescence. Females are preferentially affected. The present work aimed at assessing if there relationship between puberty the development due to PPNAD. We have followed an extended family with Carney complex (CNC) dominantly inherited mutation gene encoding regulatory subunit 1alpha (R1A) protein kinase A (PRKAR1A). large majority members presenting PPNAD were women (six...
Introduction: Although fluid administration for intravenous hydration is a common practice in pediatric age, it not devoid of risks. Methods: This was retrospective cohort study including all children admitted to surgical recovery and receiving at Pediatric Intensive Care Unit between January December 2015. Sodium, chloride, base excess values were registered on two occasions: after surgery during Unit’s hospitalization. Results: Two hundred seven included the study, 66% which, male, with...
Objectives: To describe and compare similarities differences in craniofacial other organ system involvement between syndromic non-syndromic cases of HPE Manitoba. Methods: Cases were selected from the clinic database maintained at Department Genetics using following inclusion criteria: confirmed radiologically or by autopsy; presence a strongly suggestive clinical sequence (including hypotelorism, cleft lip/palate, microcephaly, cyclopia, proboscis, ethmocephaly, cebocephaly, single central...