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11.
Yang GC; Croaker D; Zhang AL; Manglick P; Cartmill T; Cass D 《Human molecular genetics》1998,7(6):1047-1052
Lethal white foal syndrome (LWFS) is a congenital anomaly of horses
characterized by a white coat colour and aganglionosis of the bowel, which
is similar to Hirschsprung disease (HSCR). We decided to investigate
possible mutations of the endothelin-B receptor gene ( EDNRB ) in LWFS as
recent studies in mutant rodents and some patients have demonstrated EDNRB
defects. First, we identified a full-length cDNA for horse EDNRB . This
cDNA fragment contained a 1329 bp open reading frame which encoded 443
amino acid residues. The predicted amino acid sequence was 89, 91 and 85%
identical to human, bovine and mouse as well as rat EDNRB respectively, but
only 55% identical to the human, bovine and rat endothelin A receptor
(EDNRA). Secondly, sequence analysis, together with allele-specific PCR and
the amplification- created restriction site (ACRS) technique, revealed a
dinucleotide TC-- >AG mutation, which changed isoleucine to lysine in
the predicted first transmembrane domain of the EDNRB protein. This was
associated with LWFS when homozygous and with the overo phenotype when
heterozygous.
相似文献
12.
Valentini AM Iacovazzi PA Correale M Pirrelli M Armentano R Iacobelli S Tinari N Iurisci I Caruso ML 《Medicinal chemistry (Shāriqah (United Arab Emirates))》2005,1(2):185-189
To clarify the biological role of the 90K/Mac-2BP glycoprotein, we evaluated the ability of two MAbs SP-2 and 1A4.22, to reveal this glycoprotein in both serum and tissue from hepatocellular carcinoma (HCC) patients. Tissue expression of 90K was detected by the immunohistochemical method in 20 HCC patients, while the 90K serum level was assessed by the ELISA assay in 13 HCC patients. MAb SP-2 was reactive only in serum, with a mean value of 12.8+/- 6.7 microg/ml . On the contrary, MAb 1A4.22 revealed immunoreactivity both in 92% of sera and in 60% of neoplastic samples. Positive staining was seen only in the epithelial cells and was cytoplasmic and granular in all instances. The mean 90K serum level assayed with MAb 1A4.22 was 29.4 +/- 13.7 microg/ml. Patients with a 90K serum level 30 microg/ml. Moreover, a possible poor prognostic role was observed for negative 90K in tissue. Our results suggest that only MAb 1A4.22 could demonstrate 90K glycoprotein expression in paraffin-embedded tissue and that this MAb could have a diagnostic and prognostic role in both sera and tissues from HCC patients. 相似文献
13.
Ricciardi Luca Stifano Vito Pucci Resi Stumpo Vittorio Montano Nicola Della Monaca Marco Lauretti Liverana Olivi Alessandro Valentini Valentino Sturiale Carmelo Lucio 《Neurosurgical review》2021,44(1):153-161
Neurosurgical Review - The surgical injury of the intracranial portion of the facial nerve (FN) is a severe complication of many skull base procedures, and it represents a relevant issue in terms... 相似文献
14.
Nonhereditary p53 mutations in T-cell acute lymphoblastic leukemia are associated with the relapse phase 总被引:2,自引:0,他引:2
We have previously reported that greater than 60% of human leukemic T- cell lines possess mutations in the p53 tumor suppressor gene. To determine whether T-cell acute lymphoblastic leukemia (T-ALL) patient samples possess p53 mutations, we screened peripheral blood-and bone marrow-derived leukemia samples, taken at diagnosis and at relapse, for p53 mutations. Exons 4 through 9 and selected intron regions of the p53 gene were analyzed using polymerase chain reaction-single-strand conformation polymorphism and direct sequencing. p53 mutations were found in 0 of 15 T-ALL diagnosis samples, as compared with 10 of 36 (28%) T-ALL relapse samples. To determine whether p53 mutations play a role in the recurrence (relapse) of T-ALL, two special groups of T-ALL patients were studied: (1) a group of 8 relapse patients whose disease was refractory to chemotherapeutic treatment, and (2) a group of 6 "paired" T-ALL cell samples from patients for whom we possess both diagnosis and relapse samples. Three of 8 relapsed patients (37.5%) whose disease was refractory to the reinduction of remission by chemotherapy possessed missense mutations of the p53 gene. All 3 cases had mutations in exon 5. Among the paired samples, 3 of 6 patients harbored p53 mutations at disease recurrence, but possessed only wild- type p53 alleles at diagnosis. One case had mutation on exon 4, 1 case in exon 5, and 1 case in exon 8 with loss of heterozygosity. These data clearly indicate that recurrence of T-ALL is associated with missense mutations in p53. Our results indicate that (1) mutations of p53 do occur in T-ALL in vivo, and such mutations are associated with the relapse phase of the disease; and (2) p53 mutation is involved in the progression of T-ALL. This conclusion is supported by our observation that the introduction of T-ALL-derived mutant p53 expression constructs into T-ALL cell lines further increases their growth rate in culture, enhances cell cloning in methylcellulose, and increases tumor formation in nude mice. 相似文献
15.
Till now the immunohistochemical studies on the procathepsin D expression in breast cancer have been performed using polyclonal antibodies on paraffin-embedded sections because the monoclonal ones were considered effective only on frozen sections. In this study we compared the MAb M1G8 reactivity, which recognizes the 52 Kd procathepsin D, on a series of frozen and paraffin-embedded sections of the same specimen from 22 breast cancers, using the immunohistochemical method. This methodological choice was due to the necessity to perform further studies with monoclonal antibodies using archival material to clarify the procathepsin D prognostic role. MAb M1G8 was clearly positive with a 100% concordance rate both in frozen and paraffin sections of the same specimen. 相似文献
16.
碱离子水饮用后血小板聚集率的的变化(附30例报告) 总被引:1,自引:0,他引:1
目的:报告30例饮用豪斯牌碱离子水前、后血小板聚集率的变化。方法:饮用碱离子水前、后(2~3月,>3~6月)作比浊法血小板聚集试验,以1分钟、5分钟及5分钟内最大聚集率(Max%)为指标,同时检测部分血粘度指标及凝血因子,并用自动生化仪检测血糖、血脂、主要电解质及部分肝、肾功能。结果:饮碱离子水后,血小板聚集率明显下降,而以疾病组(Max>80%)下降尤为明显,P均<0.001。饮碱离子水后血小板聚集率的下降,部分可能与损伤的血管内皮得到修复有关。主要电解质及部分肝、肾功能无明显异常改变。结论:由于心、脑血管血栓性疾病患者血小板聚集率多明显升高,饮碱离子水后血小板聚集率明显下降,且长期饮用对主要电解质及部分肝、肾功能无明显异常改变,作者认为碱离子水使用方例、安全、有效、价廉,因而对心、脑血管血栓性疾病防治方面可能是一种积极的辅助方法,值得临床进一步探索。 相似文献
17.
Valentini AL Brizi MG Mutignani M Costamagna G Destito C Marano P 《Scandinavian journal of urology and nephrology》1999,33(6):423-425
A rare case of a woman with the adult form of medullary cystic disease associated with pancreatic cysts in pancreas divisum is described, which suggests that specific attention should be paid to computed tomography findings in the presence of pancreatic and renal cysts. 相似文献
18.
Anaesthesia for ultrasound guided oocyte retrieval: midazolam/remifentanil versus propofol/fentanyl regimens 总被引:2,自引:0,他引:2
Casati A Valentini G Zangrillo A Senatore R Mello A Airaghi B Torri G 《European journal of anaesthesiology》1999,16(11):773-778
To evaluate the quality of intra-operative anaesthesia and recovery characteristics of two different anaesthesia regimens, 60 healthy women undergoing ultrasound guided oocyte retrieval for in vitro fertilization procedures were randomly allocated to receive either a propofol/fentanyl or a midazolam/remifentanil based anaesthesia. The surgical procedure was successful in all patients and no severe side effects were reported by any patient. Four patients in the midazolam/remifentanil group (13%) would not accept the same anaesthetic procedure for further in vitro fertilization treatment due to intra-operative awareness, while all propofol/fentanyl patients were prepared to accept the same procedure again (P < 0.05). Patients in the propofol/fentanyl group required manual ventilation more frequently through a facemask than those patients treated with the midazolam/remifentanil combination (50% and 30%, respectively; P < 0.05). The time to achieve an Aldrete's score of 10 was shorter in the midazolam/remifentanil patients (2 +/- 2 min) than in those who received propofol/fentanyl (4 +/- 2 min) (P < 0.001), but no differences were observed in the time required to be 'fit to discharge' from the post-anaesthesia care unit. We conclude that the use of a midazolam/remifentanil regimen is as effective and safe as a fentanyl/propofol regimen in patients undergoing transvaginal oocyte retrieval for in vitro fertilization procedures. 相似文献
19.
20.
The uterus is well visualized with sonography with the definition of its morphofunctional characteristics and the physiologic variations in relation to hormonal stimuli. With high frequency endovaginal and intrarectal probes, anatomical details are optimal. Color Doppler enables the study of blood flow in the pelvic vessels and supplies functional information. Hysterosalpingography is the most accurate method for the study of the uterine cavity and the evaluation of tubal patency. In the study of uterine malformations, sonography represents the procedure of first choice, able to diagnose anomalies of fusion and development of müllerian ducts. In cases of dubious or ascertained malformations, hysterosalpingography is mandatory to complete the sonographic findings. 相似文献