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Perla Vicari

Publications and source records attributed to Perla Vicari.

13 recordsLinked to original sources
PubMed2006

XmnI polymorphism is associated with fetal hemoglobin levels in hypoplastic syndromes.

CONTEXT AND OBJECTIVE: Acquired fetal hemoglobin (HbF) elevation has been implicated as a prognostic factor in dyserythropoietic disorders. Our objectives were to examine acquired HbF increases in aplastic anemia (AA) and paroxysmal nocturnal hemoglobinuria (PNH) patients, and to evaluate whether there is an association between the presence of XmnI and 5' hypersensitive site locus control region (LCR-HS2) polymorphisms and the HbF levels. DESIGN AND SETTING: Cross-sectional study at the Hematology and Blood Transfusion Service of Universidade Federal de São Paulo - Escola Paulista de Medicina. METHODS: We studied a group of 37 patients with AA and/or PNH. Polymerase chain reaction (PCR) and enzymatic digestion were utilized to analyze XmnI polymorphisms; and PCR, cloning and automated sequencing for the HS2 polymorphisms. RESULTS: The mean HbF level was 2.32%, but there was no significant difference in HbF level between the AA and PNH groups (p = 0.46). HbF levels of less than 1.0% showed a significant correlation with absence of the XmnI (+) polymorphism (p = 0.02). The presence of the XmnI allele was greater in the AA group (p = 0.007). CONCLUSIONS: XmnI polymorphism absence reduction is associated with acquired HbF elevation. Further studies are required to confirm these observations and make treatment, prognosis and survival comparisons.

Adolescent↗
PubMed2005

Transcranial Doppler in adult patients with sickle cell disease.

BACKGROUND: Transcranial Doppler (TCD) is the key test in determining the need for prophylactic blood transfusion to prevent stroke in children with sickle cell disease (SCD). The role of TCD in assessing stroke risk in adults with SCD as well as the pattern of TCD velocities in these patients are still undetermined. METHODS: The authors compared TCD velocities in SCD adults (n=56) with those of healthy controls (n=56). RESULTS: Velocities in SCD adults were lower than those found in children and higher than in controls and negatively correlated to hematocrit in both groups. CONCLUSION: The pattern of TCD velocities in adults with SCD is different from that described in children. Age-specific TCD criteria may assist the detection of stroke risk in these patients.

Adolescent↗
PubMed2005

Acquired hemoglobin H disease in a patient with aplastic anemia evolving into acute myeloid leukemia.

CONTEXT: The prognosis of severe aplastic anemia has improved since the introduction of bone marrow transplantation and treatment with antithymocyte globulin. In contrast to the success of these protocols, studies with long term follow-up have shown the occurrence of clonal diseases such as paroxysmal nocturnal hemoglobinuria, myelodysplastic syndrome and acute leukemia in aplastic anemia. CASE REPORT: We report the first case of a Brazilian patient with aplastic anemia who developed myelodysplastic syndrome and acute myeloid leukemia showing acquired hemoglobin H and increased fetal hemoglobin.

Acute Disease↗
PubMed2005

Effects of hydroxyurea in a population of Brazilian patients with sickle cell anemia.

Fetal hemoglobin (HbF) inhibits the polymerization of sickle hemoglobin, modulating the clinical features of sickle cell anemia (SCA). Hydroxyurea (HU) therapy can increase the HbF level, although its production can be influenced by genetic determinants. Twenty-two Brazilian SCA patients were evaluated over 5 years before and after HU use. We analyzed (1) betaS haplotype; (2) patient characteristics; and (3) toxicity. No differences between age, sex, and HU response were observed. We found 40.9% of homozygous for Bantu haplotype, and, in contrasting to other trials, we observed HbF level increase in this group (3.84-9.08 g/dL, P=0.003). Adverse effects were rare. Labyrinthitis was observed in 2 (9.10%) patients after HU use, although this complication had not been described before.

Adolescent↗
PubMed2004

Embolization of intracranial aneurysms and sickle cell disease.

The association of intracranial aneurysms and sickle cell disease (SCD) has been described in the English-language literature. Treatment strategies have included angiography and craniotomy. However, with advancement of non-operative interventions, much controversy surrounds the treatment of these patients. Endovascular embolization has been used in many patients with cerebral aneurysms, but it had been reported in the literature in only two sickle cell patients. The authors present a case of endovascular embolization of multiple intracranial aneurysms in a patient with sickle cell anemia with good outcome.

Adult↗
PubMed2004

Myonecrosis in sickle cell anemia: case report and review of the literature.

Vascular occlusion is responsible for most of the severe complications of sickle cell anemia (SCA). The involvement of muscle and fascia is uncommon in SCA, but myonecrosis may occur in SCA crisis. The data accumulated in the literature is limited to only a few reports describing mainly adult patients presenting with severe muscular pain. We report a rare case of sickle myonecrosis and secondary involvement of an associated joint after a severe painful crisis in the left thigh.

Adult↗
PubMed2003

Septic arthritis as the first sign of Candida tropicalis fungaemia in an acute lymphoid leukemia patient.

Fungal infections caused by Candida species have increased in incidence during the past two decades in England, North America and Europe. Candidal arthritis is rare in patients who are not intravenous drug users or are who not using a prostheses. We report the case of a 24-year-old man with acute lymphoid leukemia, who developed Candida tropicalis arthritis during an aplastic period after chemotherapy. This is the eighth case described in the literature of C. tropicalis causing arthritis without intra-articular inoculation. We call attention to an unusual first sign of fungal infection: septic arthritis without intra-articular inoculation. However, this case differs from the other seven, since despite therapy a fast and lethal evolution was observed. We reviewed reported cases, incidence, risk factors, mortality and treatment of neutropenic patients with fungal infections.

Adult↗