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81.
Deletion/insertion mutation that causes biotinidase deficiency may result from the formation of a quasipalindromic structure 总被引:2,自引:0,他引:2
Pomponio RJ; Narasimhan V; Reynolds TR; Buck GA; Povirk LF; Wolf B 《Human molecular genetics》1996,5(10):1657-1661
Biotinidase is responsible for recycling the vitamin biotin from biocytin
that is formed after the proteolytic degradation of the biotin- dependent
carboxylases. We have identified a deletion/insertion mutation within exon
D of the human biotinidase gene in a child with biotinidase deficiency. The
mutation causes a frame shift and premature termination which are predicted
to result in a truncated protein. We propose that the mutation occurred
during DNA replication by either of two mechanisms. Both mechanisms involve
formation of a quasipalindromic hairpin loop in the template and
dissociation of DNA polymerase alpha. This mutation supports the formation
of palindromic structures as a possible cause of deletions in eukaryotes,
and supports the proposal, derived from in vitro studies, that polymerase
alpha may preferentially arrest or dissociate at specific template
sequences.
相似文献
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In vivo hematologic effects of recombinant interleukin-6 on hematopoiesis and circulating numbers of RBCs and WBCs 总被引:12,自引:0,他引:12
Interleukin-6 (IL-6) administered as a single intravenous (IV) injection caused the following changes in the peripheral circulation of rats: (a) a biphasic neutrophilia with an initial peak at 1.5 hours and a second sustained wave of neutrophilia between four and 12 hours, (b) a mild lymphocytosis at 0.5 hours and a mild lymphopenia between 1.5 and four hours, and (c) a reticulocytosis between 12 and 24 hours. The bone marrow showed no significant changes at 1.5 hours, suggesting that the peripheral neutrophilia at that time is caused by demargination of intravascular neutrophils and not by release of marrow neutrophils. The bone marrow at 12 hours showed a mild left-shifted myeloid hyperplasia of myeloblasts and promyelocytes and a tremendous erythroid hyperplasia of intermediate and late normoblasts. The bone marrow at 24 hours showed a continued mild myeloid hyperplasia and striking erythroid hyperplasia. In conclusion, IL-6 in vivo acts as a stimulus for myelopoiesis and erythropoiesis and causes accompanying peripheral changes in the number of neutrophils, lymphocytes, and RBCs. 相似文献
84.
JKS Parihar SM Brig DP Vats Col RP Gupta TR Bera R Phooken A Singh 《Medical Journal Armed Forces India》2007
Background: Phaconit or ultra micro incision phacoemulsification cataract surgery involves phacoemulsification through a 0.9 millimetre sleeveless phaco tip and irrigating chopper followed by implantation of a rollable intraocular lens. The procedure leads to negligible astigmatism and faster visual recovery as compared to phacoemulsification with a foldable intraocular lens. 相似文献
85.
NK Bodhey AK Gupta KS Neelakandhan PK Neema TR Kapilamoorthy S Purkayastha B Thomas T Krishnamoorthy C Kesavadas 《Journal of Medical Imaging and Radiation Oncology》2007,51(4):351-357
The purpose of this study was to assess the safety and long‐term efficacy of self‐expandable stents in the treatment of benign tracheal stenosis. Nine patients (seven men) with tracheal stenosis (including one with fistula) of varied cause were treated by fluoroscopically guided balloon dilatation and stenting with self‐expandable metallic stents. The procedure was carried out under topical spray in eight patients and under general anaesthesia in one patient. The patients were followed up for a period ranging between 13 and 60 months. In eight of the nine patients, satisfactory positioning of the stent was achieved at the first instance, with immediate relief of dyspnoea. One patient with innominate artery aneurysm died 16 days after the procedure because of renal failure. At 1 month of follow up, six out of eight (75%) of our live patients were without any respiratory embarrassment. This dyspnoea‐free result reached almost 90% by the end of 1 year especially so in the fibrous strictures. Four out of the eight live patients (50%) had cough for 2 months and two (25%) had mild blood‐tinged sputum treated by inhalation and mucolytic agents. Secondary intervention was required in one patient at 1 month because of recurrent symptoms. The patient with tracheo‐oesophageal fistula required surgical intervention because of fracture of the stent. Fluoroscopically guided balloon dilatation and stenting of the tracheal stenosis is an effective non‐surgical therapy resulting in cure of fibrous strictures and palliation in cases of malignancy. 相似文献
86.
AK Gupta S Purkayastha NK Bodhey TR Kapilamoorthy C Kesavadas 《Journal of Medical Imaging and Radiation Oncology》2007,51(5):446-452
The embolization of vascular tumours of the head and neck has become an important adjunct to the surgical treatment of these tumours. A vascular tumour in the head and neck region in a surgically treatable patient may be a candidate for embolization. Palliative embolization may be the sole treatment for high risk patients. Reducing intraoperative bleeding may shorten surgery time thus decreasing morbidity and mortality. The purpose of this study is to assess the efficacy of embolization as an adjunct to surgery or as a curative measure in the management of hypervascular head and neck tumours. We retrospectively reviewed the records of 46 consecutive patients (27 men and 16 women; mean age, 37.8 years) with 48 hypervascular head and neck tumours that had undergone preoperative transarterial, direct puncture or combined mode of embolization. Diagnosis of tumours was made on the basis of findings of imaging studies. The 46 patients underwent embolization either through transarterial route, by direct puncture technique or both direct puncture and arterial route. The devascularization reached 90–95% with the use of NBCA. The amount of devascularization reached by transarterial particle embolization is a little lesser. One patient (carotid body tumour) developed mild unilateral seventh, ninth and 10th cranial nerve palsy after transarterial embolization, transient hemiparesis was seen in another patient (nasopharyngeal angiofibroma). Both patients improved completely with steroids and had no deficit on follow up. One patient developed delayed glue migration into the middle cerebral artery territory 6 h after the procedure with no reported increase in size of the lesion in the following 5 years. Preoperative embolization of hypervascular tumour of head and neck region appears to be safe and improves the chance of complete removal during surgery with minimal blood loss. 相似文献
87.
OBJECTIVES: To determine the relative cost-effectiveness of the inhaled corticosteroids beclomethasone dipropionate (BDP), budesonide (BUD), and fluticasone propionate (FP), for managing moderate to severe asthma in adults over a one-year time horizon from the perspective of the Ministry of Health (MOH) in Canada.
METHODS: A single-arm meta-analysis of randomized control trials containing at least one of FP, BUD, and BDP was performed in order to derive estimates of effectiveness and tolerance. A decision tree analysis was then used to model the cost-effectiveness analysis. Only direct medical costs were included in the analysis (i.e., inpatient care, emergency visits, physician services, nursing services, drugs, diagnostic tests). The time horizon of the study was 52 weeks, precluding discounting. All costs are presented in 1996 Canadian dollars (CDN$). The cost-effectiveness was the cost per additional symptom-free day ($/SFD).
RESULTS: 69 of 398 articles were included in the metaanalysis. The Monte Carlo base case analysis showed that FP and BUD resulted in an annual cost of $1,383 and $1,147 respectively (p > 0.01). FP produced 216 SFDs while BUD resulted in 214 SFDs, which were not significantly different at p = 0.01 (corrected for multiple comparisons). BDP cost $1,343/year and yielded 213 SFD/year (BDP was excluded from the final analysis, dominated by BUD). With no difference in effectiveness, a cost-minimization analysis showed that BUD was the cost-effective alternative, costing $236 CDN less than the FP strategy.
CONCLUSIONS: Of the inhaled corticosteroids available on the MOH Formulary in Canada, BUD is a costeffective alternative for the treatment of adults with moderate to severe asthma. 相似文献
METHODS: A single-arm meta-analysis of randomized control trials containing at least one of FP, BUD, and BDP was performed in order to derive estimates of effectiveness and tolerance. A decision tree analysis was then used to model the cost-effectiveness analysis. Only direct medical costs were included in the analysis (i.e., inpatient care, emergency visits, physician services, nursing services, drugs, diagnostic tests). The time horizon of the study was 52 weeks, precluding discounting. All costs are presented in 1996 Canadian dollars (CDN$). The cost-effectiveness was the cost per additional symptom-free day ($/SFD).
RESULTS: 69 of 398 articles were included in the metaanalysis. The Monte Carlo base case analysis showed that FP and BUD resulted in an annual cost of $1,383 and $1,147 respectively (p > 0.01). FP produced 216 SFDs while BUD resulted in 214 SFDs, which were not significantly different at p = 0.01 (corrected for multiple comparisons). BDP cost $1,343/year and yielded 213 SFD/year (BDP was excluded from the final analysis, dominated by BUD). With no difference in effectiveness, a cost-minimization analysis showed that BUD was the cost-effective alternative, costing $236 CDN less than the FP strategy.
CONCLUSIONS: Of the inhaled corticosteroids available on the MOH Formulary in Canada, BUD is a costeffective alternative for the treatment of adults with moderate to severe asthma. 相似文献
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