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61.
Ameyaw MM Tayeb M Thornton N Folayan G Tariq M Mobarek A Evans DA Ofori-Adjei D McLead HL 《Journal of human genetics》2002,47(4):172-175
HER-2, a protooncogene located on chromosome 17q21, encodes a transmembrane glycoprotein (p185) with tyrosine kinase activity.
Alterations of the HER-2 gene have been implicated in the carcinogenesis and prognosis of breast cancer and other solid tumors. It is also a cancer-therapeutic
target for antibody-based therapy against the HER-2 protein. A single-nucleotide polymorphism (SNP) at codon 655, resulting in a G-to-A transition (Ile655Val) in the transmembrane
domain-coding region of this gene has been associated with an increased risk of breast cancer, particularly among younger
women. To understand the importance of this finding throughout the world, we evaluated this polymorphism in Ghanaian, Kenyan,
Sudanese, Caucasian, African–American, Saudi, and Filipino subjects using a polymerase chain reaction-restriction fragment
length polymorphism assay. The frequency of the Val allele, which is associated with increased breast cancer risk, was highly
variable between populations (0%–24%). Continental African populations had a lower frequency of the Val allele than did Saudi,
Chinese, Filipino, Caucasian, and African–American subjects. The data suggest that this SNP has variable frequency in different
ethnic groups. The findings in this study correspond with the lower incidence and lower risk of breast cancer in African women
compared with Caucasian and African–American women.
Received: December 13, 2001 / Accepted: January 16, 2002 相似文献
62.
Tachdjian G Aboura A Benkhalifa M Creveaux I Foix-Hélias L Gadisseux JF Boespflug-Tanguy O Mohammed M Labrune P 《American journal of medical genetics. Part A》2004,131(3):273-280
Genotype-phenotype correlation in women with an abnormal phenotype associated with a duplication of the long arm of the X chromosome remains unclear. We report on prenatal diagnosis and follow-up of a girl with an Xq duplication and dysmorphic features. The abnormal phenotype included growth retardation, hypotonia, and nystagmus. In order to improve the resolution of the cytogenetic analysis, we used both conventional and array-based comparative genomic hybridization to perform a global molecular cytogenetic analysis of the genome. These molecular cytogenetic analyses showed a direct duplication Xq21.1 --> q25 without other chromosomal abnormalities. This duplication was originating from the paternal X chromosome. Moreover, a skewed X-inactivation pattern was observed leading to a partial functional disomy of the chromosomal region Xq21.1q25. This report and review of the literature suggest that functional disomy for chromosome X could explain the abnormal phenotype. In prenatal diagnosis, this can have implication for patient management and genetic counseling. 相似文献
63.
Baris O Delettre C Amati-Bonneau P Surget MO Charlin JF Catier A Derieux L Guyomard JL Dollfus H Jonveaux P Ayuso C Maumenee I Lorenz B Mohammed S Tourmen Y Bonneau D Malthièry Y Hamel C Reynier P 《Human mutation》2003,21(6):656-656
The OPA1 gene, encoding a dynamin-related GTPase that plays a role in mitochondrial biogenesis, is implicated in most cases of autosomal dominant optic atrophy (ADOA). Sixty-nine pathogenic OPA1 mutations have been reported so far. Most of these are truncating mutations located in the GTPase domain coding region (exons 8-16) and at the 3'-end (exons 27-28). We screened 44 patients with typical ADOA using PCR-sequencing. We also tested 20 sporadic cases of bilateral optic atrophy compatible with ADOA. Of the 18 OPA1 mutations found, 14 have never been previously reported. The novel mutations include one nonsense mutation, 3 missense mutations, 6 deletions, one insertion and 3 exon-skipping mutations. Two of these are de novo mutations, which were found in 2 patients with sporadic optic atrophy. The recurrent c.2708_2711delTTAG mutation was found in 2 patients with a severe congenital presentation of the disease. These results suggest that screening for OPA1 gene mutations may be useful for patients with optic atrophy who have no affected relatives, or when the presentation of the disease is atypical as in the case of early onset optic atrophy. 相似文献
64.
R. H. Bahar H. M. Abdel Dayem M. Mohammed M. Simo G. Ziada C. Costantinides A. R. Suhali 《European journal of nuclear medicine and molecular imaging》1987,12(11):542-545
Pulmonary hypertension (PH) produces strain followed by hypertrophy and later dilatation of the right ventricle (RV) and pulmonary artery. The signs and symptoms are nonspecific. There is a need for a noninvasive sensitive way to diagnose PH. The purpose of this study is to evaluate phase abnormalities in radionuclide MUGA studies of patients with referred diagnosis of PH. In a retrospective analysis of 44 patients who had a radionuclide multigated study (MUGA) and contrast ventriculography (CV), 19 had high mean pulmonary pressure (over 20 mmHg) and a high pulmonary vascular resistance index (over 2.0). In 15 patients, a delayed phase segment in the RV corresponding to the pulmonary infundibulum and pulmonary conus was noted The Pulmonary Tongue sign (PT), 12 had PH (True positive) and 3 did not (false positive) on CV. No PT was seen in the remaining 29 patients, only 7 of them had PH (False negative). The sensitivity, specificity and accuracy of the PT sign in detecting PH was 80%, 72% and 77% respectively. The number of patients was too small to calculate the correlation of the grade of PT with the severity of PH. We conclude that The Pulmonary Tongue sign on a MUGA study is clinically useful in detecting PH.This project is supported by research project MLNO13 and funded by research Council, Kuwait University 相似文献
65.
Raj K. Upreti Mohammed Y. H. Farooqui Ahmed E. Ahmed G. A. S. Ansari 《Archives of environmental contamination and toxicology》1987,16(3):263-273
The excretion, tissue distribution, and binding of [14C]-formaldehyde were studied at different time intervals in male rats following a single intraperitoneal injection of 72 mg CH2O (14.7 Ci)/ kg body weight. Within 30 min, 10% of the total dose was recovered in expired air as14CO2 and by the end of 72 hr, 41% of the administered dose was eliminated through expired air. The total elimination of14CH2O activity in urine and feces in 72 hr was 15%. Erythrocytes retained significant amounts of radioactivity, even at the end of 72 hr. Substantial levels of radioactivity were detected in most tissues one hr after administration, indicating a fast absorption and rapid distribution. Subcellular fractionation of the tissues showed that the highest levels of relative percent binding was in the microsomal fraction, whereas cytosol fractions contained lowest levels of bound radioactivity. DNA, RNA, protein and lipid fractions of liver and spleen tissues showed significantly elevated levels of14C-incorporation as compared to other tissues. Thein vivo incorporation of14C-activity showed an increased association of14CH2O with RNA in all the tissues. The maximum registration of radioactivity in RNA was at 48 hr after administration. Significantly higher amounts of14C-activity were registered in DNA of all tissues. The maximum registration of radiolabel in DNA of most tissues was at 12 hr after the14CH2O administration. The liver DNA showed maximal levels at 3 hr with a second peak at 48 hr.Substantial amounts of bound radioactivity in nucleic acids of all the tissues were observed even 72 hr after dosing. The relationship between macromolecular association and formaldehyde toxicity has been discussed. 相似文献
66.
Mary Jane Yagi Mohammed Zanjani James F. Holland J. George Bekesi 《Cancer chemotherapy and pharmacology》1984,12(2):70-76
Summary A new synthetic tripeptide (p-F-Phe-m-bis-(2-chloroethyl)amino-Phe-Met ethoxy HCl), PTT.119, was demonstrated to have significant cancericidal activity against seven in vitro tumor cell lines of different origins and etiologies and against primary human AMML, ALL, and hairy cell leukemias. Viabilities of each murine tumor and rabbit, marmoset, and human leukemia and lymphoma line were significantly reduced by treatment with 1–50 g PTT.119 in media containing serum. Continuous 24-h exposure or pulse treatment as short as 15 and 30 min with the tripeptide resulted in irreversible damage to the tumor cells. Under identical treatment conditions, freshly isolated human leukemic cells, particularly ALL lymphoblasts, were even more susceptible to PTT.119 than any of the tested tumor cell models.Examination of the parameters of PTT.119 activity revealed that reductions of tumor cell survival were dependent on the concentration of the tripeptide. Prolongation of PTT.119 exposure from 15 min to 24 h increased the rates of tumor cell death but did not proportionally reduce the numbers of surviving cells. Assessment of tumor cell viabilities for 5 consecutive days following pulse exposure to PTT.119 demonstrated increasing reductions in tumor cell survival, which were greatest 5 days after treatment with the tripeptide.The cancericidal activity of PTT.119 was compared with its three parental components either as individual agents or as a mixture. Both the alkylator moiety, m-sarcolysin (m.L.SL) alone or together with p-fluoro-phenylalanine and l-methionine ethoxy HCl, and l-PAM (l-phenylalanine mustard), the p-isomer of m.L.SL, were 1.5- to 3-fold less cytotoxic to L1210 leukemia and MJY-alpha mammary tumor cells than PTT.119. Covalent linkage of the amino acid residues to m.L.SL yielded a molecule with greatly augmented cancericidal activity capable of acting against a broad spectrum of tumor cells. 相似文献
67.
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69.
Amanuel Girma Abay Mulu Alemayehu Shimeka Mohammed Oumer 《Transplantation proceedings》2021,53(2):539-547
BackgroundOrgan transplantation is considered one of the greatest advances of modern science, and it has given many patients a renewed lease on life. The demand for organs far exceeds the supply. Health professionals are fundamental in the process of organ procurement.ObjectiveTo assess the attitude, willingness, and associated factors in organ donation among health professionals of Gondar, Ethiopia.MethodsOur cross-sectional study was conducted among 382 randomly selected health professionals in Gondar using a self-administered questionnaire. Multivariable logistic regression analysis was applied to analyze the data.ResultsAmong health professionals, 79.1% had favorable attitude toward organ donation and 74.6% were willing to donate their organs. After adjusting for covariates, the odds of having a favorable attitude about organ donation were 3.2 and 11.9 times higher in the professions of laboratory technologists and medical doctors, respectively. By keeping all other variables constant, attitude was found to be positively associated with awareness (adjusted odds ratio [aOR] 12.74, 95% confidence interval [CI] 3.71-43.8) and being a member of the Red Cross Association (aOR 5.24, 95% CI 1.46-18.96). Willingness was positively associated with awareness (aOR 6.25, 95% CI 2.0-19.53), a member of the Red Cross Association (aOR 5.09, 95% CI 1.5-17.22), a laboratory technologist (aOR 3.57, 95% CI 1.37-9.29), and a medical doctor (aOR 6.52, 95 % CI 1.93-22.01).ConclusionsThe main findings indicated that the majority of health professionals in Gondar had a favorable attitude toward organ donation and were willing to donate their organs in times of need. 相似文献
70.