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排序方式: 共有224条查询结果,搜索用时 125 毫秒
1.
Eugenio Baraldi Giovanni Montini Stefania Zanconato Graziella Zacchello Franco Zacchello 《Pediatric nephrology (Berlin, Germany)》1990,4(6):623-626
The aim of this study was to evaluate the effect of correction of chronic anaemia on the physical performance and the cardiovascular response to effort in children with end-stage renal disease (ESRD) maintained by haemodialysis. Seven patients (mean age 13.9 years) underwent triangular-type treadmill exercise testing before [haemoglobin (Hb) 6.3±0.9 g/dl] and after (Hb 11.2±1.2 g/dl) anaemia correction with recombinant human erythropoietin (rHuEPO). After treatment, the work-load reached, the peak oxygen uptake and average ventilatory anaerobic threshold (VAT) values were significantly increased (P<0.01,P<0.001,P<0.05 respectively). VAT values, expressed as a percentage of normal values, increased from 55.7±16.6% to 82.4±21%. This improvement correlated well with the increase in Hb (r=0.79). Oxygen pulse also increased significantly, when tested after anacmia correction. In conclusion, these data demonstrate that when the anaemia of children with ESRD is corrected with rHuEPO, there is a clear improvement in acrobic work capacity and effort tolerance. 相似文献
2.
Dal Zotto L; Quaderi NA; Elliott R; Lingerfelter PA; Carrel L; Valsecchi V; Montini E; Yen CH; Chapman V; Kalcheva I; Arrigo G; Zuffardi O; Thomas S; Willard HF; Ballabio A; Disteche CM; Rugarli EI 《Human molecular genetics》1998,7(3):489-499
We have recently reported isolation of the gene responsible for X- linked
Opitz G/BBB syndrome, a defect of midline development. MID1 is located on
the distal short arm of the human X chromosome (Xp22. 3) and encodes a
novel member of the B box family of zinc finger proteins. We have now
cloned the murine homolog of MID1 and performed preliminary expression
studies during development. Mid1 expression in undifferentiated cells in
the central nervous, gastrointestinal and urogenital systems suggests that
abnormal cell proliferation may underlie the defect in midline development
characteristic of Opitz syndrome. We have also found that Mid1 is located
within the mouse pseudoautosomal region (PAR) in Mus musculus , while it
seems to be X- specific in Mus spretus. Therefore, Mid1 is likely to be a
recent acquisition of the M. musculus PAR. Genetic and FISH analyses also
demonstrated a high frequency of unequal crossovers in the murine PAR,
creating spontaneous deletion/duplication events involving Mid1. These data
provide evidence for the first time that genetic instability of the PAR may
affect functionally important genes. In addition, we show that MID1 is the
first example of a gene subject to X-inactivation in man while escaping it
in mouse. These data contribute to a better understanding of the molecular
content and evolution of the rodent PAR.
相似文献
3.
Stefania Barozzi Daniela Soi Elisabetta Intieri Marisa Giani Mirko Aldè Eleonora Tonon Lia Signorini Alessandra Renieri Chiara Fallerini Paola Perin Giovanni Montini Umberto Ambrosetti 《American journal of medical genetics. Part A》2020,182(10):2345-2358
Alport syndrome (AS) is caused by mutations in collagen IV, which is widespread in the basement membranes of many organs, including the kidneys, eyes, and ears. Whereas the effects of collagen IV changes in the cochlea are well known, no changes have been described in the posterior labyrinth. The aim of this study was to investigate both the auditory and the vestibular function of a group of individuals with AS. Seventeen patients, aged 9–52, underwent audiological tests including pure‐tone and speech audiometry, immittance test and otoacoustic emissions and vestibular tests including video head impulse test, rotatory test, and vestibular evoked myogenic potentials. Hearing loss affected 25% of the males and 27.3% of the females with X‐linked AS. It was sensorineural with a cochlear localization and a variable severity. 50% of the males and 45.4% of the females had a hearing impairment in the high‐frequency range. Otoacoustic emissions were absent in about one‐third of the individuals. A peripheral vestibular dysfunction was present in 75% of the males and 45.4% of the females, with no complaints of vertigo or dizziness. The vestibular impairment was compensated and the vestibulo‐ocular reflex asymmetry was more evident in rotatory tests carried out at lower than higher speeds; a vestibular hypofunction was present in all hearing impaired ears although it was also found in subjects with normal hearing. A posterior labyrinth injury should be hypothesized in AS even when the patient does not manifest hearing disorders or evident signs of renal failure. 相似文献
4.
5.
Casorati G Locatelli F Pagani S Garavaglia C Montini E Lisini D Turin I Rossi F Dellabona P Maccario R Montagna D 《Experimental hematology》2005,33(2):212-218
OBJECTIVE: Studies of memory T cells transferred with the graft are relevant to better understand the early immune reconstitution of patients given autologous bone marrow transplantation (A-BMT). A critical question is whether memory T cells resident in bone marrow (BM) of patients with hematological malignancies are resistant to either pretransplant chemotherapy or ex vivo pharmacological purging. PATIENTS AND METHODS: To address these issues, we evaluated the frequency of tetanus-toxoid (TT)-specific proliferating T-cell precursors (TT-PTCp) in BM and peripheral blood (PB) of eight patients with acute myeloid leukemia (AML) given A-BMT after in vitro purging of BM with mafosfamide. Patients were studied at the time of BM harvesting and five of them also after A-BMT. RESULTS: The range of TT-PTCp frequencies found after A-BMT were comparable with those observed in PB and in BM at the time of harvesting and did not differ significantly from those of eight age-matched healthy subjects who donated BM for a human leukocyte antigen-identical sibling. TT-PTCp frequencies in BM, studied before and after ex vivo purging, appeared not to be affected by incubation with mafosfamide. We also compared the T-cell receptor (TCR)-Vbeta-repertoire usage of TT-specific T-cell lines (TT-TCL) in BM of patients at the time of harvesting and in their PB 2 months after transplantation. The same TCR-clonotypes were detected in TT-TCL at time of harvesting and after A-BMT. CONCLUSION: These data indicate that BM-resident memory T cells of patients with AML are resistant to both pretransplant chemotherapy and ex vivo pharmacological purging and may contribute to immune reconstitution after A-BMT. 相似文献
6.
7.
John Montini Gregory J. Bagby John J. Spitzer 《Journal of molecular and cellular cardiology》1981,13(10):903-911
The ability of freshly isolated Ca2+ tolerant heart myocytes to derive its energy requirements from combinations of exogenously provided glucose, lactate and palmitate was studied. When the substrates were added individually to the incubation medium, myocytes oxidized 5 mm glucose (2.3 ± 0.2 nmol min?1 mg?1 protein), 1.0 mm lactate (6.20 ± 0.5), or 0.4 mm palmitate (0.55 ± 0.07) at rates which were several fold higher than previously reported. Palmitate or lactate decreased glucose oxidation by 25% and 50%, respectively, while together they inhibited glucose oxidation rates by 70%. The rate of lactate oxidation was decreased by 50% in the presence of glucose or palmitate. Palmitate oxidation was least affected by the alternative substrates studied. Oxygen consumption was substrate dependent, ranging from 17.9 ± 0.9 nmol min?1 mg?1 in the presence of glucose alone, to 29.5 ± 1.3 when both lactate and palmitate were present in the medium. The high rates of exogenous substrate oxidation observed in this study accounted for a major portion of myocyte oxygen consumption, but the combined oxidation of multiple substrates was necessary to supply all their energy requirements. 相似文献
8.
A Capotondo R Milazzo LS Politi A Quattrini A Palini T Plati S Merella A Nonis C di Serio E Montini L Naldini A Biffi 《Proceedings of the National Academy of Sciences of the United States of America》2012,109(37):15018-15023
The recent hypothesis that postnatal microglia are maintained independently of circulating monocytes by local precursors that colonize the brain before birth has relevant implications for the treatment of various neurological diseases, including lysosomal storage disorders (LSDs), for which hematopoietic cell transplantation (HCT) is applied to repopulate the recipient myeloid compartment, including microglia, with cells expressing the defective functional hydrolase. By studying wild-type and LSD mice at diverse time-points after HCT, we showed the occurrence of a short-term wave of brain infiltration by a fraction of the transplanted hematopoietic progenitors, independently from the administration of a preparatory regimen and from the presence of a disease state in the brain. However, only the use of a conditioning regimen capable of ablating functionally defined brain-resident myeloid precursors allowed turnover of microglia with the donor, mediated by local proliferation of early immigrants rather than entrance of mature cells from the circulation. 相似文献
9.
10.
Rukshana Shroff Helen Aitkenhead Nikola Costa Antonella Trivelli Mieczyslaw Litwin Stefano Picca Ali Anarat Peter Sallay Fatih Ozaltin Aleksandra Zurowska Augustina Jankauskiene Giovanni Montini Marina Charbit Franz Schaefer Elke Wühl 《Journal of the American Society of Nephrology : JASN》2016,27(1):314-322