A5026983271- Hemoglobinopathies and Related Disorders
- Breast Lesions and Carcinomas
- Iron Metabolism and Disorders
- Infectious Encephalopathies and Encephalitis
- Breast Cancer Treatment Studies
- Blood groups and transfusion
- Cytomegalovirus and herpesvirus research
- Cancer and Skin Lesions
- Parvovirus B19 Infection Studies
- Lung Cancer Diagnosis and Treatment
- DNA Repair Mechanisms
- Pediatric Hepatobiliary Diseases and Treatments
- Infectious Disease Case Reports and Treatments
- Erythrocyte Function and Pathophysiology
- Folate and B Vitamins Research
- Gastrointestinal disorders and treatments
- Dermatological and COVID-19 studies
- Carcinogens and Genotoxicity Assessment
- Neonatal Health and Biochemistry
- Genetic and rare skin diseases.
- Sarcoma Diagnosis and Treatment
- Congenital Anomalies and Fetal Surgery
- MRI in cancer diagnosis
- Neonatal skin health care
- Histiocytic Disorders and Treatments
Administração Regional de Saúde de Lisboa e Vale do Tejo
2025
Centro Hospitalar do Porto
2012-2024
Centro de Genética Clínica
2016
CUF Porto Hospital
2016
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...
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...
Blueberry muffin syndrome (BMS) in neonates, characterized by widespread nodular lesions, presents diagnostic challenges due to its diverse etiologies. Hyperleukocytosis, with leukocyte counts exceeding 100,000/μL, is a rare phenomenon associated severe complications neonates. Congenital leukemia (CL), diagnosis within the first month of life, linked high mortality. This case report unique BMS hyperleukocytosis as initial presentation CL. A full-term male newborn, born after an uncomplicated...
The Kallmann syndrome is characterised by the association of hypogonadotropic hypogonadism and hypo/anosmia. It represents a phenotypically genotypically heterogeneous clinical entity, with six genes identified so far in literature—KAL1, FGFR1, PROKR2, PROK2, CHD7 FGF8. Mutations FGFR1 gene can be found approximately 10% patients. authors present case female adolescent impaired olfactory acuity presence hypoplasia nasal sulcus agenesis bulbs. molecular analysis fibroblast growth factor...
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...
Two severe cases of hemolytic anemia are described in different pediatric age groups, both linked to cobalamin deficiency from distinct causes. The first case refers an exclusively breastfed infant with vitamin deficit secondary maternal impaired absorption. Apart the neurological deficits present at diagnosis, he also presented infantile epileptic spasms syndrome a few months after treatment while having normal serum levels. second adolescent long-term inadequate intake. occurrence is...
One hundred and fifty-six patients with suspect nonpalpable breast lesion underwent stereotaxic core needle aspiration biopsy (SCNAB) a single pass in an upright "add-on" device using manual 1.6-mm (16 G), to determine whether the results were comparable of SCNAB multiple-pass technique. Of 69 carcinomas, 51 (74%) correctly diagnosed definitive surgical therapy, without biopsy, was performed 42 50 invasive carcinomas (84%) 9 19 noninvasive (47%). Ten 4 discovered by microcalcifications or...
Menetrier disease of childhood is a rare unknown etiology, although it was described an association with Cytomegalovirus infection in about one third the cases. The typical clinical and laboratorial changes are edema hypoproteinemia hypoalbuminemia. A previously healthy 22-months-old boy admitted for generalized edema, performed study revealed evidence acute Cytome ga lovirus infection. Endoscopy suggested hypertrophic gastritis histology showed foveolar hyperplasia inflammatory cellular...
One hundred and fifty-six patients with suspect nonpalpable breast lesion underwent stereotaxic core needle aspiration biopsy (SCNAB) a single pass in an upright “add-on” device using manual 1.6-mm (16 G), to determine whether the results were comparable of SCNAB multiple-pass technique. Of 69 carcinomas, 51 (74%) correctly diagnosed definitive surgical therapy, without biopsy, was performed 42 50 invasive carcinomas (84%) 9 19 noninvasive (47%). Ten 4 discovered by microcalcifications or...
One hundred and fifty-six patients with suspect nonpalpable breast lesion underwent stereotaxic core needle aspiration biopsy (SCNAB) a single pass in an upright “add-on” device using manual 1.6-mm (16 G), to determine whether the results were comparable of SCNAB multiple-pass technique. 69 carcinomas, 51 (74%) correctly diagnosed definitive surgical therapy, without biopsy, was performed 42 50 invasive carcinomas (84%) 9 19 noninvasive (47%). Ten 4 discovered by microcalcifications or...
Sao apresentadas imagens de uma lactente, com antecedentes irrelevantes. Aos tres meses foi notada lesao cutânea unica no dorso do pe, crescimento indolente, mais evidente apos o banho ou quando friccionada directamente, registo um episodio progressao para vesicula, friccao vigorosa. O restante exame era normal. Perante as caracteristicas clinicas feito diagnostico mastocitoma cutâneo solitario.
Introducao: A esplenomegalia em idade pediatrica esta frequentemente associada a infeccoes viricas, tendo um caracter transitorio. Em caso de persistente, importa excluir doenca hematologica, congestiva, infiltrativa, sobrecarga ou reumatologica. Caso Clinico: Adolescente 14 anos, sexo feminino, referenciada consulta por hepatoesplenomegalia. Segunda filha pais nao consanguineos, antecedentes pre, peri e neonatais irrelevantes com evolucao estaturoponderal desenvolvimento psicomotor...
Introducao: A litiase biliar e uma patologia rara em idade pediatrica, com incidencia estimada 0.1-2%. Surge mais frequentemente no contexto de malformacoes da arvore ou hemolise cronica, nomeadamente na esferocitose hereditaria (EH). Este ultimo grupo representa cerca 10-20% dos casos. sintomatica ainda crianca pre-es- colar a sua abordagem nao esta completamente estabelecida.Caso Clinico: Crianca 4 anos idade, sexo feminino, EH moderada diagnosticada aos 2 internamento recente colecistite...
Introducao: Anemia define-se como um valor de hemoglobina inferior aos dois desvios-padrao para a idade e sexo, sendo gravidade da mesma dependente varios fatores, nomeada- mente o contexto clinico. Habitualmente, uma manifestacao agudizacao doenca previamente conhecida; contudo pode evidenciar-se inicial diversas patologias, adquiridas ou hereditarias. Casos Clinicos: Os autores apresentam nove casos clinicos doentes selecionados consulta externa Hematologia Pediatrica cuja primeira foi...
Rapaz de 7 anos, com lesoes cutâneas desde os 4 meses,maculopapulares e nodulares, hiperpigmentadas, limites bem definidos, bordos irregulares, intervaladas por pele normal distribuidas pelo tronco, pescoco membros. Apos friccao as desenvolvem sinais inflamatorios – sinal Darier , posterior regressao espontânea. Aos 12 meses foi realizada biopsia cutânea, confirmando o diagnostico urticaria pigmentosa (UP). Ao longo dos anos constatada descoloracao das lesoes, mantendo-se sem sintomas/sinais...
RESUMO Introducao : A encefalomielite aguda disseminada (ADEM) e uma doenca desmielinizante monofasica do sistema nervoso central (SNC) imunomediada. O quadro clinico inicial pode ser inespecifico, mas traduz geralmente envolvimento da substância branca em varias localizacoes SNC, sendo a ressonância magnetica (RM) neuroeixo o exame complementar de diagnostico eleicao. Caso Crianca com 16 meses, internada por perda capacidade marcha instalacao aguda, recusa alimentar irritabilidade. No...
Abstract Neurofibromatosis type 1 (NF‐1) is a multisystem genetic disorder affecting the NF1 tumor suppressor gene. Patients typically develop superficial (cutaneous) and internal (plexiform) neurofibromas. The latter may rarely involve liver locating in hilum encasing portal vessels, leading to hypertension. Vascular abnormalities ( NF‐I vasculopathy ) are well‐recognized manifestation of NF‐1. Although pathogenesis not well‐known, NF‐1 involves arteries both peripheral cerebral...
Introduction: Nijmegen breakage syndrome (NBS) is a rare autosomal recessive disorder that belongs to the group of chromosomal instability syndromes, more prevalent in Central and Eastern Europe.Clinical case: We describe case 14-month-old boy, born Ukrainian parents, presented at birth with microcephaly, small gestational age dysmorphic facial characteristics, which became obvious age. The complementary study revealed spontaneous induced instability, normal fetal haemoglobin α-fetoprotein...