A5046613013- Hemoglobinopathies and Related Disorders
- Blood groups and transfusion
- Blood disorders and treatments
- Iron Metabolism and Disorders
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Erythrocyte Function and Pathophysiology
- Venous Thromboembolism Diagnosis and Management
- RNA modifications and cancer
- Immunodeficiency and Autoimmune Disorders
- Contact Dermatitis and Allergies
- Acute Myeloid Leukemia Research
- Platelet Disorders and Treatments
- Parvovirus B19 Infection Studies
- Hematopoietic Stem Cell Transplantation
- Neonatal Health and Biochemistry
- Folate and B Vitamins Research
- Autoimmune and Inflammatory Disorders Research
- Sarcoma Diagnosis and Treatment
- Bone and Joint Diseases
- Blood Coagulation and Thrombosis Mechanisms
- Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
- Neurological and metabolic disorders
- Neurological disorders and treatments
- Moyamoya disease diagnosis and treatment
- Congenital Heart Disease Studies
Administração Regional de Saúde de Lisboa e Vale do Tejo
2025
Hospital de Santa Maria
2013-2024
University of Lisbon
2021-2023
Centro Hospitalar Lisboa Norte
2012-2022
IPO Porto
2021-2022
Hospital de São Bernardo
2007
The Portuguese Newborn Screening Program currently includes 28 pathologies: congenital hypothyroidism, cystic fibrosis, 24 inborn errors of metabolism, sickle cell disease and spinal muscular atrophy. This pilot study for newborn screening, including 188,217 samples, was performed between May 2021 December 2023 – Phase I 24,130 newborns in Lisbon Setubal districts; II 164,087 whole country. DBS samples were analyzed through capillary electrophoresis. In phase I, a high birth prevalence found...
The Portuguese Newborn Screening Program currently includes 28 pathologies: congenital hypothyroidism, cystic fibrosis, 24 inborn errors of metabolism, sickle cell disease and spinal muscular atrophy. This pilot study for newborn screening, including 188,217 samples, was performed between May 2021 December 2023, with phase I, 24,130 newborns, in the Lisbon Setubal districts II, 164,087 whole country. DBS samples were analyzed through capillary electrophoresis. In a high birth incidence found...
Sickle cell disease (SCD) has extremely variable phenotypes, and several factors have been associated with the severity of disease.To analyze chronic complications SCD look for predictive risk increased number complications.Retrospective study including all children followed in Paediatric Haematology Unit a tertiary hospital Portugal, who completed 17 yr old between years 2004 2013.We identified 44 patients, 55% female 98% black. Chronic occurred 80% cases. Slight dilatation left ventricle...
Red cell distribution width (RDW), a classical parameter used in the differential diagnosis of anemia, has recently been recognized as marker chronic inflammation and high levels oxidative stress (OS). Fanconi anemia (FA) is genetic disorder associated to redox imbalance dysfunctional response OS. Clinically, it characterized by progressive bone marrow failure, which remains primary cause morbidity mortality. Macrocytosis increased fetal hemoglobin, two indicators erythropoiesis, are...
AIM:To characterize clinical, laboratorial, and histological profile of pediatric autoimmune gastritis in the setting unexplained iron deficiency anemia investigation. METHODS:A descriptive, observational study including patients with a diagnosis (positive parietal cell antibody gastric corpus atrophy) established 6 year period (2006-2011) refractory (refractoriness to oral therapy for at least mo requirement intravenous therapy) investigation, after exclusion other potentially contributing...
This report focuses on a male infant, the first born of non-consanguineous parents diagnosed with polyhydramnios at 26 weeks gestation. The newborn was admitted during neonatal period bleeding diathesis associated low platelet count birth (5×10<sup>9</sup>/l).The authors registered persistent (9000–129 000/l) infants 1st year life. Physical examination revealed petechial rash, dysmorphic face and bilateral cryptorchidism, in absence organomegaly. Additionally, cardiologic evaluation an...
Summary We describe a novel α ‐thalassaemia determinant in 3‐year‐old girl presenting mild microcytic and hypochromic anaemia, normal haemoglobin A 2 level. Molecular studies revealed heterozygosity for microdeletion (−C) at codon 22 of the ‐globin gene. As frameshift mutation generates premature translation termination position 48/49, we investigated effect nonsense on gene expression. Although it does not affect RNA splicing, induces accelerated mRNA degradation. To our knowledge, this is...
A 13-year-old boy presented with spontaneous skin and mucosal bleeds 3 weeks after acute hepatitis of unknown aetiology. Laboratory analyses revealed pancytopenia bone marrow biopsy that confirmed the diagnosis aplastic anaemia. Other causes congenital acquired anaemia were excluded. He was diagnosed hepatitis-associated developed a critical clinical condition, becoming totally dependent on erythrocyte platelet transfusions, severe neutropenia, which led to invasive bacterial infection. died...
Langerhans cell histiocytosis (LCH) is a rare disease of unknown origin with heterogeneous clinical presentation, varying from benign and self-limited to lethal. It classified as single or multisystemic, according the number organs involved (one at least two, respectively). Diagnosis can be challenging based on histological immunophenotypic examination affected tissues. Secondary haemophagocytic lymphohistiocytosis rarely reported in association LCH may impair its diagnosis. Some authors...
A 14-year-old adolescent presented with a prolonged fever, abnormal liver function, anaemia, thrombocytopaenia, but good general status. Diagnosis of hemophagocytic lymphohistiocytosis (HLH) was suspected, in spite the initial indolent course. Secondary causes were excluded, no specific mutation indicative primary HLH found. The patient started therapy, progressed reactivations and later persistently active disease. Haematopoietic stem cell transplantation not successful died 7 months after...
Screening for critical congenital heart defects in newborn babies can aid early recognition, with the prospect of improved outcome. However, as this universal screening is implemented, there will be an increasing number false-positive results. In order to avoid multiple investigations and uncertainty, haemoglobin (Hb) variant must included differential diagnosis otherwise well newborns low oxygen saturation by pulse oximetry. We describe a novel fetal Hb (heterozygous γ-globin gene (HBG1)...
Autoimmune hemolytic anemia (AIHA) is an uncommon but recognized complication of a hematopoietic stem cell transplant (HSCT). Management challenges include the absence established guidelines and variable response rates to first-line treatments. We present case series three patients, all submitted HSCT for non-oncologic diseases, who developed AIHA as in following months. All were resistant treatments required several lines therapy achieve hematological response. Although new have been...
Diabetes mellitus is one of the most frequent endocrinopathies in medical routine, appearing across different specialties. Although neurological involvement form peripheral neuropathy recurrent acknowledged by physicians, spectrum can be more diverse. Here, we present a case diabetic striatopathy, rare manifestation diabetes with poor metabolic control, patient whose epidemiological group was not classically. As clinical and imaging findings are typical, although rare, high degree suspicion...
Teaching Point: Primary breast angiosarcoma should be in the differential of a mass with rapid growth. It typically appears intensely vascularized and non-calcified, predominantly hyperechoic, hyperintense on T2-weighted MRI.
The burden perceived by the patient of repeated imaging required for neoadjuvant chemotherapy (NAC) monitoring warrants attention due to increased use NAC and imaging.To evaluate compare experienced associated with contrast-enhanced mammography (CEM) magnetic resonance (MRI) during breast cancer from perspective.Approval ethics committee written informed consent were obtained. In this prospective study, CEM MRI performed on 38 patients before, during, after in a tertiary center. was...
A trombose venosa profunda (TVP) e uma entidade rara na idade pediatrica mas quando presente causa de morbilidade mortalidade importantes. Em 95% dos casos, a TVP tem subjacente, hereditaria ou adquirida que deve ser investigada. Os autores apresentam o caso clinico adolescente com extensa do membro inferior em investigacao etiologica revelou existencia varios factores protromboticos: sindrome anticorpos anti-fosfolipidos, hiperhomocisteinemia relacionada mutacao C677T gene da...
Resumo A doenca de von Willebrand (DvW), provocada por uma alteracao quantitativa ou qualitativa do factor (fvW), e a causa hereditaria hemorragia mais frequente. Existem tres tipos principais, que condicionam maior menor gravidade quadro clinico. Com o objectivo ilustrar as dificuldades no diagnostico algumas particularidades da evolucao na DvW, sao apresentados discutidos casos clinicos. O primeiro um caso DvW tipo 1 associado disfuncao plaquetaria, pode cursar com em os resultados normais...
Introducao: A trombocitopenia neonatal aloimune e a causa mais comum de isolada no recem-nascido saudavel, devendo-se destruicao das plaquetas fetais/neonatais induzida por aloanticorpos plaquetarios maternos dirigidos contra antigenios fetais.Caso Clinico: Apresenta-se o caso um lactente com mes vida, internado quadro petequias generalizadas equimoses nos membros inferiores. Analiticamente, apresentava grave, sem parâmetros infeccao estudo primario da coagulacao normal. Pela suspeita...
Sinus tachycardia is common in pediatric age, and usually related to benign physiological conditions, such as somatoform disorders. Nevertheless, it can also be a presenting sign of disease with an ominous prognosis. We present case previously healthy 15-year-old girl, admitted for syncope. She had been well until one week before admission, when thoracic pain developed. One month prior the admission she started oral contraceptives. On examination, persistent sinus tachycardia, despite...
Background: Sickle cell anemia (SCD) is a multiorgan disease. Involvement of the central nervous system (CNS) associated with increased mortality. Cerebrovascular accidents, especially when permanent neurological deficits, are one most devastating potential outcomes SCD. SCD can be complicated by Moyamoya syndrome (MMS), which characterized progressive stenosis supraclinoid segment carotid arteries and development typical collaterals, resulting in risk for both ischemic hemorrhagic strokes....