Search PubMed⌕ Search

Biomedical subjects

P Carbone

Publications and source records attributed to P Carbone.

At least 37 records · Page 2Linked to original sources

t(1;2), inv(1) and trisomy 1q during the blastic phase of Philadelphia chromosome-positive chronic myeloid leukemia.

Several karyotype changes observed during the blastic phase in 2 patients with Philadelphia chromosome (Ph)-positive chronic myeloid leukemia (CML) are reported. Rearrangements involving chromosome 1, i.e., translocations, a pericentric inversion and trisomies of its long arm, are described. In the first patient whose chronic phase was very long (17 years), the uncommon association between i(17q) and Ph duplication has been observed during the blastic phase, beside the involvement of chromosome 1. In the second patient, additional abnormalities involving chromosomes 1, 2, 4, 8, 18 and 21 were present. Of particular interest is the finding of a t(1;2). In this case, the presence of hyperdiploid cells with 49-50 chromosomes, prevailing at the blastic crisis, was due to the evolution of the hypodiploid clone with the 45,XX,t(9;22),-21 karyotype found during the chronic phase. The occurrence of chromosomal changes involving chromosome 1 during the blastic phase of CML is emphasized.

Adult↗

Complex translocation t(3;9;22) and paracentric inversion of chromosome 3 in blastic crisis of chronic myeloid leukemia.

We report a complex rearrangement observed in both the short and long arms of chromosome #3 in a patient with Ph-positive chronic myeloid leukemia in blastic crisis and without thrombopoietic abnormalities. The rearrangement consisted of a complex translocation, t(3;9;22)(p21;q34;q11), and a paracentric inversion of the long arm of the same chromosome #3 involved in the translocation. Involvement of chromosome #3 in complex translocations in chronic myeloid leukemia and the relationship between 3q anomalies and thrombopoietic diseases are discussed.

Chromosome Inversion↗

Additional chromosomal abnormalities to Ph during the clinical course in patients with acute lymphoblastic leukemia.

Cytogenetic findings obtained during the clinical course in two patients (one child and one adult) with Ph-positive acute lymphoblastic leukemia (ALL) are reported. Chromosomal abnormalities in addition to Ph chromosome were detected in both patients. At the beginning of the disease, such abnormalities consisted of the trisomy of chromosome 1 and monosomy of chromosomes 8 and 9, with a sub-line 45, XY, Ph, -8 in the child; in the adult patient a hyperdiploid clone with 57-59 chromosomes and Ph duplication was present. At relapse, the same karyotypic anomalies reappeared in the child, whereas in the adult a high frequency of chromosomal rearrangements, such as ring and dicentric chromosomes, was observed after cranial irradiation. The occurrence of chromosomal abnormalities additional to Ph during the clinical course in ALL patients is discussed, taking into account data from the literature concerning the lymphoid blastic crisis in chronic myeloid leukemia patients.

Adolescent↗

[Melanomas of the head and neck].

Apart from the skin on the extremities, the skin of the head, face and neck is more subject to melanomas than any other part of the body. The most favourable prognosis is for melanomas of the cheek and neck cutis. Melanomas of the upper respiratory tract are much less common. The diagnosis of mouth is astonishingly tardive. Malignant melanomas very rarely occur on the salivary glands. In all the above cases surgery is the treatment of choice for all primary tumours. In the cases of local lymph node melanomas, elective dissection appears to give the best long-term results, especially in the case of cutaneous melanomas of the head, neck and upper respiratory tract.

Head and Neck Neoplasms↗

Prophylactic versus no brain irradiation in regional small cell lung carcinoma.

Among 104 complete responders entered in a randomized prospective trial of treatments for regional small cell undifferentiated carcinoma of the lung, 52 received prophylactic irradiation of the brain, 3,000 rad in 10 fractions, and 52 did not. The median survivals were 53 and 52 weeks respectively, and the incidences of brain metastases were 5% and 20%. Prophylactic brain irradiation was not associated with significant long-term toxicity.

Brain Neoplasms↗

Cytogenetic studies in five patients with myelofibrosis and myeloid metaplasia.

Chromosome studies of five patients with myelofibrosis and myeloid metaplasia were carried out on bone marrow cells and/or on peripheral blood without PHA. Abnormal clones were found in three patients. Such clones were a minority, compared with the number of cells with normal karyotypes in all three patients. Chromosomes abnormalities consisted of 5q- (case 5), 13q- (case 2), and a small supernumerary acrocentric marker (case 3). One of our five patients, a woman aged 75 (case 1), showed a constitutional karyotype 46,XX,inv(5)( p15q11 ). The same chromosome rearrangement was present in 100% of the stimulated peripheral lymphocytes of this patient and in one of her sons with a normal phenotype. One patient (case 4) had a normal karyotype. These results are discussed and compared with data from the literature concerning myelofibrosis and other myeloproliferative diseases.

Adult↗

Inherited aplastic anemia with abnormal clones in bone marrow and increased endoreduplication in peripheral lymphocytes.

Cytogenetic studies in peripheral blood and bone marrow cells from a female patient (aged 31 years) with inherited aplastic anemia and without other congenital anomalies are reported. Endoreduplication was increased in stimulated peripheral lymphocytes in several investigations. Chromosome breaks were shown to be near the control frequency, although chromatid exchange figures and dicentrics were present. Cytogenetic analysis was extended to the three children of our patient. Abnormal clones were detected in bone marrow preparations of our patient in all cytogenetic investigations. At the first examination, two of these clones were prevalent, with their karyotypes being 48,XX, +9, +16 and 46,XX,dup(1)(q24----q32),t(17;?)(p12-13;?). The prevailing karyotype after 2 years was 46,XX,t(17;?)(p12-13;?). Involvement of chromosomes #1 and #17 is discussed, taking into account data from the literature concerning several human neoplasias.

Adult↗

[Strain-gauge plethysmographic measurement of the systemic bioavailability of oral nitroglycerin in liver cirrhosis].

7 cirrhotic (M = 3, F = 4, mean age 55, range 35-74) and 7 healthy subjects (M = 6, F = 1, mean age 24, range 23-40) were studied. 2.5mg% nitroglycerin were administered per os. This drug is quite completely metabolized in its first pass through the liver (first pass effect). Peripheric vascular effect of nitroglycerin was evaluated by venous occlusion strain-gauge plethysmography, ECG-coupled (Rest Flow measurement RF, in ml/min/100 ml). No statistically significant differences were found between pre-drug RF in the two groups and between pre and post-drug measurements in healthy subjects. Post-drug RF decreased in cirrhotic subjects when compared either to pre-drug values or to post-drug values in normal subjects (statistically significant after the third minute, p ranging less than 0.05 and less than 0.001). The different peripheric vascular effect found in the two groups was considered as a consequence of the increased drug bioavailability in cirrhotics, caused by portosystemic shunts.

Administration, Oral↗

[Function of the psychiatrist in a hematology ward. Notes on consultation-liaison psychiatry].

Collaboration between Haematology and Mental Hygiene Departments of the University of Rome aims at clinical assistance, scientific research and staff training. It takes place through meetings of psychiatric consultants with haematologic patients and, above all, with doctors and paramedical staff. The psychiatrist's role takes place inside the framework of modern CLP (consultation-liaison psychiatry), whose psychosomatic approach to illness it shares, taking into consideration the complex network of interactions and feedbacks in which the relationships between doctor, patient and illness develop.

Hematologic Diseases↗

[2,3-diphosphoglycerate and glycosylated hemoglobin in diabetes mellitus].

Large amounts of intraerythrocyte 2-3 diphosphoglycerate (2-3 DPG) increase red cell oxygen-releasing capacity. Since glycosylated hemoglobins, found in higher percentages in diabetics, have an increased oxygen affinity, 2-3 DPG concentration was assayed in 12 diabetics (4 I.D.D., 8 N.I.D.D.) and 18 healthy volunteers. 2-3 DPG was related to glycemic fasting values and to glycosylated hemoglobins to evaluate if 2-3 DPG levels increase in diabetics as a compensatory mechanism to prevent peripheral hypoxia. 2-3 DPG values were significantly higher in diabetics than in normals: 11.4 mumol/gHb +/- 1.7 (= M +/- 1 SD) vs 9.8 mumol/gHb +/- 2.3 (p less than 0.05). 2-3 DPG did not correlate significantly to glycosylated hemoglobins or to glycemic values neither in diabetics nor in normals. These preliminary observations emphasize the usefullness of 2-3 DPG assay in evaluating peripheral oxygenation in diabetics: 2-3 DPG is higher in diabetics but does not correlate to glycemic equilibrium.

2,3-Diphosphoglycerate↗

Combined modality treatment of regional small cell undifferentiated carcinoma of the lung: a cooperative study of the RTOG and ECOG.

Between 1975 and 1979, 271 patients with regional small cell undifferentiated (including oat cell) carcinoma of the lung were entered into a study involving treatment by radiation therapy (4500 cGy (rad) in five weeks) to the primary tumor, mediastinum and supraclavicular lymph nodes, and a randomization to receive or not receive prophylactic treatment of the brain (3000 cGy in two weeks) and a randomization to prophylactic or delayed chemotherapy (cyclophosphamide and CCNU). Analysis of the data indicates that the median survival for responders (53 weeks) was significantly longer than that of the non-responders and partial responders (37 and 34 weeks). Median survival by treatment arm was 48 weeks for thoracic irradiation (TI), brain irradiation (BI), and early chemotherapy (CT), 44 weeks for TI alone, 41 weeks for TI and CT, 38 weeks for TI and BI. Regional complete and partial tumor responses were 52 and 25% for prophylactic chemotherapy and 44 and 35% for delayed chemotherapy. The site of first failure was regional in 12%, regional and distant simultaneously in 21%, and distant only in 46%. Elective brain irradiation significantly reduced the incidence of brain metastases from 21 and 5%, but did not improve survival.

Brain Neoplasms↗

[Chromosome abnormalities in bone marrow cells and peripheral lymphocytes in a patient with Fanconi's anemia].

In direct preparations of bone marrow cells from an 18 years old patient with Fanconi's anaemia (FA) a low frequency of structural chromosome aberrations was observed (4% excluding gaps), while in cultured bone marrow cells (48 hours) and in cultured peripheral lymphocytes such aberrations were found to be about 3 times as many. The increase of chromosome abnormalities "in vitro" is discussed and the most recent observations on possible factors determining susceptibility to chromosome breakage in cases with FA are taken into account.

Adolescent↗

Sister chromatid exchange distribution in bone marrow cell chromosomes from patients with refractory anemia.

Statistical analysis (chi2 test) of the interchromosomal distribution of sister chromatid exchanges in bone marrow cells from 3 patients with refractory anemia showed significant differences concerning chromosome 1. Analysis of intrachromosomal sister chromatid exchange distribution concerning chromosome 1 showed that a considerable number of sister chromatid exchanges is localized in the terminal segments of both chromosome arms.

Adult↗