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Biomedical subjects

E Barreiro

Publications and source records attributed to E Barreiro.

33 records · Page 2Linked to original sources

[Diaphragmatic function during exercise in patients with severe COPD].

UNLABELLED: Ventilatory requirements increase during exercise. The respiratory muscles of patients with chronic obstructive pulmonary disease (COPD) are at a particular disadvantage when dealing with such increased demand. The objective of this study was to evaluate the changes in respiratory muscles brought on by exercise in such patients. METHODS: Twelve patients with severe CFOPD (FEV1 < 50% ref., 63 +/- 7 years) were enrolled. Breathing patterns and esophageal (Pes and transdiaphragmatic (Pdi) pressures and SaO2 were measured during submaximal exercise/Ecsbmax, 60% of the maximum tolerated load). A sniff maneuver was performed with the patients breathing ambient air with added oxygen to achieve 99% SaO2. We also measured level of FRC by inductive plethysmograph in a subgroup of five patients. RESULTS: During EXsbmáx, SaO2 decreased (from 95.0 +/- 2.1 to 92.3 +/- 4.0%; p < 0.01); Vt increased (717 +/- 199 to 990 +/- 297 cc, p < 0.01), as did respiratory rate (RR, 17 +/- 6 a 28 +/- 9; p < 0.01). Pes and Pdi were greater at Vt, changing from -12.4 +/- 4.8 to -27.0 +/- 10.1 and 16.6 +/- 6.1 to 30.4 +/- 12.4 cmH2O, respectively (p < 0.01 in both cases), whereas no significant changes were observed for maximal effort (Pesmax, -61.4 +/- 16.5 cersus -65.9 +/- 15.2 cmH2O; Pdimac 89.7 +/- 26.1 versus 81.7 +/- 35.7 cmH2O). Used as a global measure, Pdi/Pdimáx worsened (0.21 +/- 0.12 a 0.42 +/- 0.20; p < 0.01), as dud the diaphragm tension-time (TTdi; 0.07 +/- 0.04 to 0.15 +/- 0.06, p < 0.01). Intrinsic positive end-expiratory pressure (PEEPi) increased an estimated 2.7 +/- 2.1 to 9.4 +/- 5.8 cmH2O (p < 0.001), while FRC (delta 357 +/- 274 ml). Durante el EXsbmáx with oxygen supplementation, SaO2 did not decrease. However supplementation, though Ti/TTOT and maximal pressures remained unchanged. CONCLUSIONS: Respiratory muscle function changes induced by Exsbmáx seem to relate mainly to a worsening of system mechanics.

Data Interpretation, Statistical↗

Acute megakaryoblastic leukemia in a patient with a familial pericentric inversion of chromosome 8, inv(8)(p23.1q13).

A 7-month-old girl was diagnosed with acute megakaryoblastic leukemia and, at the time of diagnosis, the karyotype was 48-50,XX,+4,+5,del(5)(p13),del(6)(q14), +8,inv(8)(p23.1q13),der(13) t(13;?;?),+19,-20,+21,+22,+mar [cp20]. At relapse, there was clear evidence of her constitutional status as a carrier of the pericentric inversion (8)(p23.1q13). It was a familial inversion affecting the patient's maternal lineage; a history of cancer and bleeding anomalies in carriers of the inversion led us to consider their nonrandom association with these pathologies.

Centromere↗

[Cytogenetic alterations found by chromosome analysis and fish technique in two patients with variant chronic lymphocytic leukemia].

Chromosomal studies in CLL have yielded poorer results than in other blood diseases because of the low mitotic index of the B cells. The FISH technique is a very useful tool for trisomy 12 detection in interphase nuclei in CLL, although this method cannot be a substitutive for conventional cytogenetics. The FISH technique was applied in two cases of CLL by means of satellite DNA probing specific for chromosome 12 according to the Oncor S 1370-CF kit protocol. Trisomy 12 was detected, along with other chromosomal abnormalities secondary to this trisomy. Both patients had lymphocyte counts lower than 5.0 x 10(9)/L and their peripheral blood immunophenotype showed 58% lymphocytes with lambda sIg of medium density, co-expressing CD5 and unable to form rosettes with mouse red-cells. Patient no. 1 was 46,XY/47,XY + 12/47,XY + 12,5q-, and patient no. 2 was 46,XX/47,XX + 12,14q-. The presence of secondary anomalies could explain the special clinico-haematological picture, characterised by low lymphocytosis and presence of irregular nuclei in mature lymphocytes, along with the lack of CD23 expression and rosette formation with mouse red-cells. FISH technique combined with chromosome analysis may prove a useful means for diagnosing and recognising variants or specific entities within low-grade lymphoproliferative syndromes.

Aged↗

Cytohematologic and cytogenetic prognostic factors at diagnosis and in the evolution in 46 primary myelodysplastic syndromes.

The myelodysplastic syndromes (MDS) are a heterogeneous group of diseases with different prognosis and evolution. Most of the studies on prognostic factors performed previously have independently evaluated the clinico-hematologic or cytogenetic data at diagnosis. In the present paper, 46 primary MDS were clinically, hematologically, and cytogenetically investigated at diagnosis, in order to determine the principal factors affecting the survival probability between a great number of characteristics. A univariate regression analysis of all the data allows one to recognize that the main factors are: the complexity of karyotype (p = 0.00001), the percentage of type I and total marrow blast cells (p = 0.001), and the abnormal localized immature myeloid precursors' (ALIP) presence (p = 0.001). Twenty-five patients underwent consecutive studies during their evolution. The karyotype instability gives information both on the likely evolution to acute leukemia and on poor survival.

Adult↗

[18 short arm deletion. Report of one case (author's transl)].

A two month old boy with multiple malformations: mental retardation, microcephaly, hyperterloism, displasic ears, hypospadias, unilateral cryptorchidism and holoprosencephaly is presented. In leukocytes culture, patient shows a deletion of the short arm of a 18 chromosome. This aberration apears "de novo" in this patient.

Abnormalities, Multiple↗

[Turner's syndrome (author's transl)].

Twenty cases of Turner's syndrome are presented. Ten cases showed cariotype XO, nine XO/XX and one case showed mosaicism with three cell lines one of which showed a ring chromosome (XO/XX/XXr). The clinical characteristics of syndrome and the associated malformations are appraised. Commentaries are made about ultimate height attained by this patients.

Biopsy↗

Tumor markers (CEA, CA 125, CYFRA 21-1, SCC and NSE) in patients with non-small cell lung cancer as an aid in histological diagnosis and prognosis. Comparison with the main clinical and pathological prognostic factors.

CEA, CA 125, SCC, CYFRA 21-1 and NSE were prospectively studied in 211 patients with non-small cell lung cancer and compared with clinical parameters (age, sex, Karnofsky Index, symptoms and smoking status), histopathological parameters (stage, histology, tumor size and nodal involvement), biological parameters (LDH and albumin) and the therapy used (surgery, chemotherapy or radiotherapy). Tumor marker sensitivity was CYFRA 21-1: 76%, CA 125: 55%, CEA: 52%, SCC: 33% and NSE: 22%. One of the tumor markers was abnormally high in 87% of the patients with locoregional disease and in 100% of the patients with metastases. Except for NSE, all tumor markers showed a clear relationship with tumor stage and histology and therefore enabled a better histological diagnosis. Abnormal CEA serum levels were mainly found in adenocarcinomas, CA 125 in large-cell lung cancers (LCLC) and adenocarcinomas and SCC in squamous tumors. Eighty-five percent of the patients with SCC levels >2 ng/ml had squamous tumors. Likewise, CA 125 levels <60 U/ml or CEA <10 ng/ml excluded adenocarcinoma or LCLC with a probability of 82 and 91%, respectively.

Antigens, Neoplasm↗

[Multiple mosaicism in a patient with gonadal dysgenesis (author's transl)].

A fourteen years old girl, with short height and primary amenorrhea is presented. Laparoscopic examination revealed bilateral gonadal streaks. Chromosome analysis from leukocyte culture, revealed mosaicism with a predominant cell line del 45,X and another cell lines del 46,XXX/46,X,r(X)46,X,del(X)/47,XX,r(X)47,XXdel(X)/48,XXXX.

Adolescent↗

[Down's syndrome with G/G "tandem" translocation (author's transl)].

A three month old male with Down's Syndrome is presented. Cytogenetic studies reveal a count of 46 chromosomes with a G/G "tandem" translocation. New staining techniques show the marker chromosome closed at both ends and with two symmetrical bands.

Chromosome Aberrations↗

[Klinefelter's syndrome with 48,XXYY (author's transl)].

This paper describes a case of Klinefelter's syndrome with 48,XXYY. Patient had mental retardation and dysmorfic face. Although mental retardation may be recognized early in life, it is difficult to establish a clinical diagnosis of Klinefelter's syndrome before puberty when small testes, gynecomastia and other phisical stigmata may become apparent.

Child↗