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1.
《European journal of medical genetics》2021,64(12):104345
BackgroundEpidermolysis bullosa (EB) is a genodermatosis characterized by skin fragility and blisters with variable severity. Patients with Dystrophic EB (DEB) or Junctional EB (JEB) mainly present to clinic due to greater functional impairment. Pathogenic sequence variations in COL7A1 are implicated in DEB.ObjectiveWe have tried to decipher the molecular spectrum and genotype phenotype correlation of 21 Indian patients with EB.MethodsNext generation sequencing (NGS) was performed to determine the pathogenic variants. Sanger sequencing was also done for validation of the variants in eleven individuals.ResultsPathogenic variants were detected in 20 individuals (diagnostic yield of 95%). Majority of them (90%) had sequence variation in COL7A1 while two had pathogenic variants in ITGB4 and KRT14 respectively. Out of the 18 patients confirmed to have DEB, 3 had Dominant DEB (DDEB) whereas 15 patients had Recessive DEB (RDEB). Amongst 23 sequence variations identified, 12 were found to be novel (3 were missense, 5 were premature termination codon variants while 4 were splice-site changes).ConclusionGenotype phenotype correlation was noted with milder manifestations in those with dominant inheritance types. Exact molecular diagnosis can be ascertained by NGS in majority of cases. 相似文献
2.
穴位埋线是长效针灸,是在传统针具和针法基础上建立和发展起来的,是针灸技术的发展和延伸,穴位埋线的核心技术是穿刺技术,穴位埋线的三大要素中,针具、埋藏物、穿刺技巧之间是互相影响、互相促进的。针具的改进成功实现了穴位埋线疗法的第一次飞跃,埋藏物的改进成功实现了穴位埋线疗法的第二次飞跃,穿刺技术的改进和创新是穴位埋线疗法的第三次飞跃。 相似文献
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《Value in health》2022,25(12):1958-1966
ObjectivesNational health technology assessments (HTAs) across Europe show differences in evidentiary requirements from assessments by the European Medicines Agency (EMA), affecting time to patient access for drugs after marketing authorization. This article analyzes the differences between EMA and HTA bodies’ evidentiary requirements for oncology drugs and provides recommendations on potential further alignment to minimize and optimally manage the remaining differences.MethodsInterviews were performed with representatives and drug assessment experts from EMA and HTA bodies to identify evidentiary requirements for several subdomains and collect recommendations for potentially more efficiently addressing differences. A comparative analysis of acceptability of the evidence by EMA and the HTA bodies and for potential further alignment between both authorities was conducted.ResultsAcceptability of available evidence was higher for EMA than HTA bodies. HTA bodies and EMA were aligned on evidentiary requirements in most cases. The subdomains showing notable differences concerned the acceptance of limitation of the target population and extrapolation of target populations, progression-free survival and (other) surrogate endpoints as outcomes, cross-over designs, short trial duration, and clinical relevance of the effect size. Recommendations for reducing or optimally managing differences included joint early dialogues, joint relative effectiveness assessments, and the use of managed entry agreements.ConclusionsDifferences between assessments of EMA and HTA bodies were identified in important areas of evidentiary requirements. Increased alignment between EMA and HTA bodies is suggested and recommendations for realization are discussed. 相似文献
5.
《Journal de gynecologie, obstetrique et biologie de la reproduction》2015,44(5):411-418
6.
胃癌雌激素受体表达及新一代抗受体药物在胃癌治疗中的探讨 总被引:3,自引:0,他引:3
目的 探讨胃癌雌激素受体 (ER)实际表达率 ,为临床使用新一代抗ER药物 (toremifene ,TOR)治疗胃癌提供临床病理依据。方法 用免疫组化法对 349例胃癌标本进行ER的检测 ,其中 2 99例用ABC(avidinbiotinperoxidasecomplex)法 ,5 0例用葡聚糖聚合物技术二步法进行检测。在检测ER的同时也检测 p5 3及PCNA的表达。结果 两种检测方法的ER阳性率分别为 2 .3% (7/ 2 99)及 0 % (0 / 5 0 ) ,p5 3阳性率 37.1% (111/ 2 99)及 4 6 %(2 3/ 5 0 ) ,PCNA 94 .3% (2 82 / 2 99)及 96 % (48/ 5 0 )。结论 胃癌细胞可表达ER但实际表达率很低 ,而且存在质和量的变化。tamoxifen (TAM )及TOR的抗胃癌效应需要进一步研究 相似文献
7.
M. J. Fritsch M. Bauer C. J. Partsch W. G. Sippell H. M. Mehdorn 《Child's nervous system》2007,23(6):627-631
Objective Endoscopic third ventriculostomy (ETV) is a standard procedure for the treatment of obstructive hydrocephalus in children.
Main part of the procedure is the perforation of the third ventricle floor (tuber cinereum). This structure is part of the
hypothalamic–pituitary neuronal network of cerebral endocrine regulation. There are no systematic data available about the
endocrine status after ETV in children.
Materials and methods We examined 20 children who had undergone ETV. Examination included laboratory tests (adrenocorticotropic hormone, prolactin,
insulin-like growth factor 1 [IGF-1], IGF-binding protein 3 [IGFBP-3], fT3, fT4, thyroid-stimulating hormone [TSH], serum
osmolarity, electrolytes, glucose, urea, follicle-stimulating hormone [FSH] and luteinizing hormone [LH], and testosterone
in selected patients), measurement of weight, height, and head circumference, and physical examination. The study was approved
by the Ethics Committee of the Medical Faculty of Kiel University.
Results In seven patients, prolactin was moderately elevated. One patient demonstrated a significantly increased prolactin (56.3 ng/ml).
In all eight patients, this was the only laboratory value that was out of the normal range; all other parameters were normal.
Three other patients showed one abnormal parameter (decrease in FSH and LH, increase in TSH, decrease in IGF-1 and IGFBP-3).
In nine patients, weight or height was not within the 3rd to 97th centiles for age.
Discussion and conclusion More patients than expected demonstrated endocrine laboratory abnormalities. However, there was no clinical relevance in any
of the studied patients. It remains inconclusive whether ETV contributes to the abnormalities of prolactin levels or to other
endocrine parameters in pediatric patients. Longitudinal studies are necessary to delineate the effect of ETV on endocrine
regulation.
Presented at the Third World Conference of the International Study Group on Neuroendoscopy (ISGNE), Marburg, Germany, 15–18
June 2005. 相似文献
8.
J. Hayes T. Shatari P. Toozs-Hobson† K. Busby S. Pretlove† S. Radley M. Keighley 《Colorectal disease》2007,9(4):332-336
OBJECTIVE: The outcome of immediate repair of obstetric third-degree tears is poorly documented. Immediate repair may give better functional results than delayed repair because scarring is reduced. This aim of this prospective study was to examine the early outcome of immediate repair of third-degree tears. METHOD: A total of 121 women who had immediate repair of obstetric third-degree tears underwent interview, anal ultrasonography and anorectal physiology. RESULTS: At review, 79 (65%) were completely asymptomatic (score = 0), 23 (19%), had minor flatus incontinence or mild urgency causing no compromise to their quality of life (score 1-4), and 19 (16%) had clinically embarrassing faecal incontinence (score 5-24). Thirty-nine (32%) had an intact internal anal sphincter (IAS) and external anal sphincter (EAS) (i.e. a successful repair), eight (7%) had a defect in the IAS alone but the EAS was intact (i.e. a successful repair but a residual IAS defect), 43 (35%) had a residual defect in the EAS alone (IAS intact) and 31 (26%) had a persistent defect in the IAS and EAS. Residual defects in either or both of the sphincters were associated with a significantly higher incidence of abnormal resting and squeeze anal pressures. Anal manometry had no correlation with symptoms. The highest proportion of severe incontinence was in those with an IAS defect alone (37%) and when there was a residual IAS and EAS defect (24%). Only 2 of 39 (5%) with an intact IAS and EAS had severe incontinence and only 8 of 43 (18%) with a residual EAS defect alone had severe faecal incontinence. CONCLUSION: These results indicate a good outcome following immediate repair of third-degree obstetric tears and emphasize the role of the IAS in providing continence. 相似文献
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