Biomedical subjects

H Sabio

Publications and source records attributed to H Sabio.

58 records · Page 4Linked to original sources

PubMedDate not supplied

Hb Hammersmith [beta 42(CD1) Phe-->Ser]: occurrence as a de novo mutation in black monozygotic twins with multiple congenital anomalies.

PURPOSE: To present the occurrence of Hb Hammersmith as a de novo mutation in African-American twins with multiple congenital anomalies. METHODS: Standard hematologic methods were used. The presence of an unstable Hb variant was confirmed by brilliant cresyl blue staining and an isopropanol stability test. Hb Hammersmith was confirmed by the sequencing of polymerase chain reaction-amplified beta-globin gene. RESULTS: The presence of Hb Hammersmith was confirmed in female monozygotic twins of African-American origin with congenital Heinz body hemolytic anemia and multiple congenital anomalies. The variant occurred as a de novo mutation in the twins. CONCLUSION: This report describes the occurrence of Hb Hammersmith [B42(CD1)Phe-->Ser] in African-American twins. As with the other reported cases, both twins were female. In addition to Heinz body hemolytic anemia, a low arterial O2 saturation in the proposita was shown by pulse oximetry. Multiple congenital anomalies involving various systems were also found in both twins.

Abnormalities, Multiple↗

PubMedDate not supplied

Cerebrospinal fluid polyamines in childhood leukemia.

Cerebrospinal fluid (CSF) polyamines were measured in children with acute lymphocytic leukemia or non-Hodgkin's lymphoma in various stages of the disease ranging from complete remission to active central nervous system (CNS) involvement. Polyamines were analyzed by ion exchange chromatography with o- pthalaldehyde fluorimetric detection. Putrescine concentrations in random CSF samples obtained from leukemic patients with and without CNS involvement were not significantly different. Spermidine levels were generally higher in patients without CNS leukemia than in patients with the disease. In serial CSF specimens from an individual patient, spermidine levels correlated well with clinical status, being high in the active stages of the disease and low in remission. Thus, CSF polyamines appear to be of limited value as a screening test for early detection of CNS leukemia; however, they may offer an additional means of evaluating CNS leukemia and its response to therapy.

Adolescent↗

PubMedDate not supplied

Erythrocyte creatine in cord blood.

Erythrocyte creatine (EC) content and reticulocyte counts were compared in normal adults, pediatric patients with hemolytic anemia, and cord blood. A good correlation between reticulocyte count and EC content was found in normal subjects and patients with hemolysis, thus confirming the usefulness of creatine as an estimate of mean red cell age in these populations. No significant correlation (p greater than 0.1) was observed between the two measurements in cord blood. While reticulocyte counts were significantly elevated (p less than 0.001) in cord blood when compared to normal adults (indicating the presence of a young mean red cell age), EC concentrations in most samples were not correspondingly high. These results may indicate that creatine is not well synthesized by the neonatal red blood cell.

Adolescent↗

PubMedDate not supplied

Erythroleukemia of childhood and infancy: a report of two cases.

Two rare de novo cases are presented of pediatric erythroleukemia (EL), AML-M6 in a four-month-old (patient A) and four-year-old (patient B) African-Americans who presented to the Medical College of Georgia from 1989 to 1995. The clinical, morphologic, immunophenotypic and cytogenetic features of both patients are reviewed. The purpose of this study is to correlate the bone marrow morphology with the immunophenotypes and the karyotypes of the neoplastic cells. The patients were both female, presented with flu-like symptoms, and were noted to have hepatosplenomegaly on physical examination. The peripheral blood examination was significant for anemia (Hb 54 (A), 84(B)g/L), and thrombocytopenia (86 (A), 70(B) x 10(9)/L). The bone marrow contained 75 percent (A) and 76.8 percent (B) erythroblasts and showed myelodysplastic changes in the erythroid cell line. Cytochemical analysis was performed, and greater than 10 erythroblasts per 100 cells were periodic acid-Schiff positive. Immunophenotypes of the pretreatment bone marrow showed glycophorin-A, CD71, and CD11b positivity. The karyotypes of both patients contained complex (> 3 per clone) cytogenetic abnormalities. Our data suggest that the initial presentation and course of disease are different in adults and children. However, once the adult form reaches the acute leukemia stage, the laboratory findings are similar to those at initial presentation in pediatric EL.

Acute Disease↗