A5059764869- Lysosomal Storage Disorders Research
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Carbohydrate Chemistry and Synthesis
- Trypanosoma species research and implications
- Hemoglobinopathies and Related Disorders
- Erythrocyte Function and Pathophysiology
- Trace Elements in Health
- Eosinophilic Disorders and Syndromes
- Chronic Lymphocytic Leukemia Research
- Cancer Treatment and Pharmacology
- Genomic variations and chromosomal abnormalities
- Pharmacological Effects and Toxicity Studies
- Platelet Disorders and Treatments
- Iron Metabolism and Disorders
- Studies on Chitinases and Chitosanases
- Transgenic Plants and Applications
- Cellular transport and secretion
- Erythropoietin and Anemia Treatment
- Heavy Metal Exposure and Toxicity
- Hematological disorders and diagnostics
- Cytomegalovirus and herpesvirus research
- Peripheral Neuropathies and Disorders
- Acute Myeloid Leukemia Research
- Bacterial Infections and Vaccines
- Viral-associated cancers and disorders
Hospital Universitario Nuestra Señora de Candelaria
2025
Hospital do Divino Espírito Santo
2013-2023
Congenital erythrocytosis (CE), or congenital polycythemia, represents a rare and heterogeneous clinical entity. It is caused by deregulated red blood cell production where erythrocyte overproduction results in elevated hemoglobin hematocrit levels. Primary familial associated with low erythropoietin (Epo) levels from mutations the Epo receptor gene (EPOR). Secondary CE arises conditions causing tissue hypoxia increased production. These include variants affinity for oxygen (HBB, HBA...
Gaucher Disease type 1 (GD1) is a lysosomal disorder that affects many systems. Therapy improves the principal manifestations of condition and, as consequence, patients show modified phenotype which reflects their disease are refractory to treatment. More generally, it increasingly recognised information how patient feels and functions [obtained by patient- reported outcome measurements (PROMs)] critical any comprehensive evaluation A new set management goals for GD1 in both trends reflected...
Abstract Introduction Congenital erythrocytosis can be classified as primary, when the defect is intrinsic to RBC progenitors and independent of serum erythropoietin ( E po) concentration, or secondary, result an upregulation po production. Primary associated with mutations in EPOR gene, secondary CE de due that stabilize hemoglobin oxygenated form genes control transcriptional activation EPO gene – VHL , EGLN1 EPAS1 . Chuvash polycythemia, caused by shares features both primary...
Eliglustat is a first-line oral therapy for adults with Gaucher disease type 1 (GD1) compatible CYP2D6-metabolizer phenotypes (>90% of patients). The randomized, double-blind EDGE trial (NCT01074944, Sanofi Genzyme) evaluated once-daily eliglustat dosing compared the approved twice-daily regimen at same total daily dose in GD1. Subjects received during 6- to 18-month lead-in period. Only subjects who attained prespecified treatment goals hemoglobin, platelet count, spleen and liver volumes,...
Brain manganese (Mn) accumulation is a key feature in patients with acquired hepatocerebral degeneration (AHD). The role of trace elements other than Mn AHD needs to be clarified. In this study, using inductively coupled plasma mass spectrometry, we aimed evaluate blood levels before and after liver transplantation (LT). Trace element the group were also compared those healthy controls (blood donors, n = 51). Fifty-one included study (mean age: 59.2 ± 10.6 years; men: 72.5%). had higher Mn,...
Iron overload is associated with acquired and genetic conditions, the most common being hereditary hemochromatosis (HH) type-I, caused by HFE mutations. Here, we conducted a hospital-based case-control study of 41 patients from São Miguel Island (Azores, Portugal), six belonging to family HH type-I pseudodominant inheritance, 35 unrelated individuals fulfilling biochemical criteria iron compatible type-I. For this purpose, analyzed mutations– c.845G>A [p.Cys282Tyr], c.187C>G [p.His63Asp],...
Gaucher disease (GD) type 1 is a lysosomal storage disorder associated with bone disease, hepatosplenomegaly, anemia and thrombocytopenia. Here we present case series from 5 (3 females 2 males) Portuguese individuals single institution GD who were treated substrate-reduction therapy (eliglustat, 84 mg once or twice daily) for 6-years.
The Sherlock Holmes symposia have been educating haematologists on the need for prompt recognition, diagnosis and treatment of rare haematological diseases 10 years. These symposia, which are supported by an unrestricted educational grant from Sanofi Genzyme, encourage to consider disorders in differential diagnoses. Improvement disease awareness is important because diagnostics availability effective therapies improved considerably, meaning that can be accurately diagnosed successfully...
Myeloid sarcomas (MS) are rare extramedullary (EM) hematological tumors that generally arise during the natural course of acute myeloid leukemia (AML), occurring concomitantly with onset systemic leukemia; it can also occur following but rarely before. Common sites EM involvement include lymph nodes, skin, soft tissue, bone and peritoneum. Herein, we report case a 63-year-old man who presented AML upon initial diagnosis involving marrow, nodes skin (leukemia cutis). A was made based on...