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11.
John Ellis Sumir Brahmbhatt Daniel Desmond Brian Ching Jordanna Hostler 《Journal of medical case reports》2018,12(1):375
Background
Pulmonary sequestration is a congenital lung disease characterized by nonfunctioning pulmonary tissue that lacks normal communication with the bronchial tree and is supplied by a nonpulmonary systemic artery. Symptomatic bronchopulmonary sequestration is uncommon, seen more frequently in the pediatric population than in adults. It has traditionally been treated with surgical resection; however, a limited but growing number of cases have been treated with angiographic embolization. Given the inherent risks of cardiothoracic surgery, embolization of the anomalous vessel is an enticing alternative treatment. We present a case of a 56-year-old woman with known, symptomatic, intralobar pulmonary sequestration that was successfully treated with coil embolization.Case presentation
A 56-year-old Pacific Islander woman with a history of chronic myeloid leukemia was admitted to the hospital with an episode of hemoptysis. Computed tomography of the chest demonstrated left lower lobe intralobar pulmonary sequestration fed by a large tortuous vessel branching off of the descending thoracic aorta. Surgical resection of the sequestration is the current standard treatment strategy of symptomatic intralobar pulmonary sequestration. The cardiothoracic surgeon noted that given the size and location of arterial blood supply, intervention would involve thoracotomy and lobectomy. The interventional radiologist offered embolization of the lesion as an alternative to surgery. Multiple coils, 6–13 mm in size, were used to embolize the sequestration. No considerable flow distal to the coils was noted postembolization.Conclusions
Intralobar pulmonary sequestration is a rare condition that typically requires surgical management. This case demonstrates the efficacy of coil embolization as an alternative management strategy. To date, limited case reports of adults treated with endovascular embolization exist. Treatment of symptomatic pulmonary sequestration with embolization can be considered as an alternative to surgical resection.12.
Bakshi SR Dave BJ Sanger W Brahmbhatt MM Trivedi PJ Kakadia PM Patel SJ 《Cytogenetic and genome research》2008,121(1):14-17
Cytogenetic analysis in peripheral blood lymphocytes of a 50-year-old female with tongue cancer showed the presence of one to three copies of a small supernumerary marker chromosome (sSMC) in a mosaic state. Family studies also revealed the marker in mosaic form in four (age <29 years) of eleven clinically normal individuals studied from her family of 16 individuals spanning three generations. Due to the extremely small size of the marker chromosome, identification by classical cytogenetics was not informative. Multicolor FISH followed by whole chromosome painting identified the marker as a derivative of chromosome 21. This is the first report of sSMC21 in an adult-onset tongue cancer patient and some of her family members with no clinical symptoms. 相似文献
13.
Shashikiran Donthamsetty Meera Brahmbhatt Vaishali Pannu Padmashree Rida Sujatha Ramarathinam Angela Ogden 《Cell cycle (Georgetown, Tex.)》2014,13(13):2056-2255
Centrosomes direct spindle morphogenesis to assemble a bipolar mitotic apparatus to enable error-free chromosome segregation and preclude chromosomal instability (CIN). Amplified centrosomes, a hallmark of cancer cells, set the stage for CIN, which underlies malignant transformation and evolution of aggressive phenotypes. Several studies report CIN and a tumorigenic and/or aggressive transformation in mitochondrial DNA (mtDNA)-depleted cells. Although several nuclear-encoded proteins are implicated in centrosome duplication and spindle organization, the involvement of mtDNA encoded proteins in centrosome amplification (CA) remains elusive. Here we show that disruption of mitochondrial function by depletion of mtDNA induces robust CA and mitotic aberrations in osteosarcoma cells. We found that overexpression of Aurora A, Polo-like kinase 4 (PLK4), and Cyclin E was associated with emergence of amplified centrosomes. Supernumerary centrosomes in rho0 (mtDNA-depleted) cells resulted in multipolar mitoses bearing “real” centrosomes with paired centrioles at the multiple poles. This abnormal phenotype was recapitulated by inhibition of respiratory complex I in parental cells, suggesting a role for electron transport chain (ETC) in maintaining numeral centrosomal homeostasis. Furthermore, rho0 cells displayed a decreased proliferative capacity owing to a G2/M arrest. Downregulation of nuclear-encoded p53 in rho0 cells underscores the importance of mitochondrial and nuclear genome crosstalk and may perhaps underlie the observed mitotic aberrations. By contrast, repletion of wild-type mtDNA in rho0 cells (cybrid) demonstrated a much lesser extent of CA and spindle multipolarity, suggesting partial restoration of centrosomal homeostasis. Our study provides compelling evidence to implicate the role of mitochondria in regulation of centrosome duplication, spindle architecture, and spindle pole integrity. 相似文献
14.
Alexander W Wyatt Fan Mo Kendric Wang Brian McConeghy Sonal Brahmbhatt Lina Jong Devon M Mitchell Rebecca L Johnston Anne Haegert Estelle Li Janet Liew Jake Yeung Raunak Shrestha Anna V Lapuk Andrew McPherson Robert Shukin Robert H Bell Shawn Anderson Jennifer Bishop Antonio Hurtado-Coll Hong Xiao Arul M Chinnaiyan Rohit Mehra Dong Lin Yuzhuo Wang Ladan Fazli Martin E Gleave Stanislav V Volik Colin C Collins 《Genome biology》2014,15(8)
15.
A low copy number cosmid 总被引:8,自引:1,他引:7
A low copy number cosmid was constructed by subcloning the pair of cos sites and the kanamycin resistance gene of pcos2EMBL into pGB2. The resulting cosmid, pPR691, has the pSC101 replicon and specifies resistance to kanamycin, spectinomycin, and streptomycin. pPR691 also carries restriction sites suitable for cloning partial Sau3A digests using the strategy of Bates and Swift (P. F. Bates and R. A. Swift, 1983, Gene 26, 137-146). A library of Salmonella typhimurium chromosomal DNA was made using this cosmid and the rfb gene cluster (map position 42) was isolated from this library. 相似文献
16.
The 18S ribosomal RNAs of 21 tetrapods were sequenced and aligned with five
published tetrapod sequences. When the coelacanth was used as an outgroup,
Lissamphibia (living amphibians) and Amniota (amniotes) were found to be
statistically significant monophyletic groups. Although little resolution
was obtained among the lissamphibian taxa, the amniote sequences support a
sister-group relationship between birds and mammals. Portions of the 28S
ribosomal RNA (rRNA) molecule in 11 tetrapods also were sequenced, although
the phylogenetic results were inconclusive. In contrast to previous
studies, deletion or down- weighting of base-paired sites were found to
have little effect on phylogenetic relationships. Molecular evidence for
amniote relationships is reviewed, showing that three genes
(beta-hemoglobin, myoglobin, and 18S rRNA) unambiguously support a
bird-mammal relationship, compared with one gene (histone H2B) that favors
a bird- crocodilian clade. Separate analyses of four other genes (alpha-
crystallin A, alpha-hemoglobin, insulin, and 28S rRNA) and a combined
analysis of all sequence data are inconclusive, in that different groups
are defined in different analyses and none are strongly supported. It is
suggested that until sequences become available from a broader array of
taxa, the molecular evidence is best evaluated at the level of individual
genes, with emphasis placed on those studies with the greatest number of
taxa and sites. When this is done, a bird-mammal relationship is most
strongly supported. When regarded in combination with the morphological
evidence for this association, it must be considered at least as plausible
as a bird-crocodilian relationship.
相似文献
17.
18.
Summary and Conclusion The coprocessed superdisintegrant proved to be superior to the physical blend in terms of flow due to size enlargement. Furthermore,
the coprocessed superdisintegrant displayed superiority in terms of crushing strength, disintegration time, and drug dissolution.
The advantages of the proposed method are easy adaptability in industry and the possibility of bypassing the existing patents
in the ereas of quick disintegration and dissolution.
Published: February 16, 2007 相似文献
19.
Bakshi SR Brahmbhatt MM Trivedi PJ Dalal EN Patel DM Purani SS Shukla SN Shah PM Patel PS 《Indian journal of human genetics》2012,18(1):106-108
Trisomy of chromosome 8 is frequently reported in myeloid lineage disorders and also detected in lymphoid neoplasms as well as solid tumors suggesting its role in neoplastic progression in general. It is likely to be a disease-modulating secondary event with underlying cryptic aberrations as it has been frequently reported in addition to known abnormalities contributing to clinical heterogeneity and modifying prognosis. Here, we share our findings of trisomy 8 in leukemia patients referred for diagnostic and prognostic cytogenetic assessment. Total 60 cases of trisomy 8, as a sole anomaly or in addition to other chromosomal aberrations, were reported (January 2005-September 2008). Unstimulated bone marrow or blood samples were cultured, followed by GTG banding and karyotyping as per the ISCN 2005. Patients with +8 were chronic myeloid leukemia (CML) (36), acute myeloid leukemia (AML) (17), and acute lymphoblastic leukemia (ALL) (7). In 7 patients, trisomy 8 was the sole anomaly, whereas in 6 patients +8 was in addition to normal clone, in 47 patients, the +8 was in addition to t(9;22), t(15;17), and others, including 3 with tetrasomy 8. Only one patient showed constitutional +8. The present study will form the basis of further cumulative studies to correlate potential differential effects of various karyotypic anomalies on disease progression and survival following a therapeutic regime. To unravel the role of extra 8 chromosome, constitutional chromosomal analysis and uniparental disomy will be considered. 相似文献
20.
Trivedi PJ Patel PS Brahmbhatt MM Patel BP Gajjar SB Dalal EN Shukla SN Shah PM Bakshi SR 《Indian journal of human genetics》2009,15(3):137-139
We report here two cases of trisomy 13 in acute myeloid leukemia M1 subtype. short-term unstimulated bone marrow and peripheral blood lymphocyte culture showed 47, XY, +13 in all metaphase plates and trisomy 13 was confirmed with whole chromosome paint probes. Trisomy 13 in AML-M1 is a rare numerical abnormality. This is the first Indian report of sole trisomy 13 in AML-M1. Here, we present two cases of elder male patients, which may constitute a distinct subtype. 相似文献