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排序方式: 共有1443条查询结果,搜索用时 46 毫秒
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Tyler F. Beck Philippe M. Campeau Shalini N. Jhangiani Tomasz Gambin Alexander H. Li Reem Abo‐Zahrah Valerie K. Jordan Andres Hernandez‐Garcia Wojciech K. Wiszniewski Donna Muzny Richard A. Gibbs Eric Boerwinkle James R. Lupski Brendan Lee Willie Reardon Daryl A. Scott 《American journal of medical genetics. Part A》2015,167(4):831-836
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Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral‐facial‐digital syndrome type VI 下载免费PDF全文
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Rachana Kathuria Ujjal Poddar Jayanta Ghosh Surender Kumar Yachha V. Gnanapriya Rakesh Pandey Anupriya Kaur Subha Phadke Anshu Srivastava 《Indian journal of gastroenterology》2012,31(6):343-345
Wolman disease (WD) is a rare, inherited, rapidly fatal condition presenting in early infancy. The disease manifests in the first month of life with failure to thrive, vomiting, diarrhea, abdominal distension, hepatosplenomegaly and bilateral adrenal calcification and is nearly always fatal before the age of 1?year. Barring a case report of isolated fetal ascites, there is no report of intractable ascites as the presentation of WD till date. We report two siblings with WD who both had intractable ascites and required therapeutic paracentesis, albumin infusion, and diuretics to control tense ascites. Although rare, WD should be considered in the differential diagnosis of infantile ascites. 相似文献
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Suetani RJ Ho K Jindal S Manavis J Neilsen PM Pishas KI Rippy E Bochner M Kollias J Gill PG Morris HA Callen DF 《Molecular and cellular endocrinology》2012,362(1-2):202-210
Links between a low vitamin D status and an increased risk of breast cancer have been observed in epidemiological studies. These links have been investigated in human tissue homogenates and cultured cell lines. We have used non-malignant, malignant and normal reduction mammoplasty breast tissues to investigate the biological and metabolic consequences of the application of vitamin D to intact ex vivo human breast tissue. Tissues were exposed to 1α,25(OH)(2)D(3) (1,25D; active metabolite) and 25(OH)D (25D; pre-metabolite). Changes in mRNA expression and protein expression after vitamin D exposure were analysed. Results indicate that while responses in normal and non-malignant breast tissues are similar between individuals, different tumour tissues are highly variable with regards to their gene expression and biological response. Collectively, malignant breast tissue responds well to active 1,25D, but not to the inactive pre-metabolite 25D. This may have consequences for the recommendation of vitamin D supplementation in breast cancer patients. 相似文献
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Scott E. Hickey Devon Lamb Thrush Lauren Walters-Sen Shalini C. Reshmi Caroline Astbury Julie M. Gastier-Foster Joan Atkin 《European journal of medical genetics》2013,56(9):510-514
We describe an 11 month old female with Prader–Willi syndrome (PWS) resulting from an atypically large deletion of proximal 15q due to a de novo 3;15 unbalanced translocation. The 10.6 Mb deletion extends from the chromosome 15 short arm and is not situated in a region previously reported as a common distal breakpoint for unbalanced translocations. There was no deletion of the reciprocal chromosome 3q subtelomeric region detected by either chromosomal microarray or FISH. The patient has hypotonia, failure to thrive, and typical dysmorphic facial features for PWS. The patient also has profound global developmental delay consistent with an expanded, more severe, phenotype. 相似文献
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Increased risk of pneumonia among ventilated patients with traumatic brain injury: every day counts!
Xuan HuiAdil H. Haider MD MPH Zain G. HashmiAmy P. Rushing MD Nitasha DhimanValerie K. Scott MSPH Shalini SelvarajahElliott R. Haut MD David T. EfronEric B. Schneider PhD 《The Journal of surgical research》2013
Background
Patients with traumatic brain injury (TBI) frequently require mechanical ventilation (MV). The objective of this study was to examine the association between time spent on MV and the development of pneumonia among patients with TBI.Materials and methods
Patients older than 18 y with head abbreviated injury scale (AIS) scores coded 1–6 requiring MV in the National Trauma Data Bank 2007–2010 data set were included. The study was limited to hospitals reporting pneumonia cases. AIS scores were calculated using ICDMAP-90 software. Patients with injuries in any other region with AIS score >3, significant burns, or a hospital length of stay >30 d were excluded. A generalized linear model was used to determine the approximate relative risk of developing all-cause pneumonia (aspiration pneumonia, ventilator-associated pneumonia [VAP], and infectious pneumonia identified by the International Classification of Disease, Ninth Revision, diagnosis code) for each day of MV, controlling for age, gender, Glasgow coma scale motor score, comorbidity (Charlson comorbidity index) score, insurance status, and injury type and severity.Results
Among the 24,525 patients with TBI who required MV included in this study, 1593 (6.5%) developed all-cause pneumonia. After controlling for demographic and injury factors, each additional day on the ventilator was associated with a 7% increase in the risk of pneumonia (risk ratio 1.07, 95% confidence interval 1.07–1.08).Conclusions
Patients who have sustained TBIs and require MV are at higher risk for VAP than individuals extubated earlier; therefore, shortening MV exposure will likely reduce the risk of VAP. As patients with TBI frequently require MV because of neurologic impairment, it is key to develop aggressive strategies to expedite ventilator independence. 相似文献30.
Shalini Pankaj Sourav Taru Saha Mandeep Kaur Ebenezer Oluwakemi Paul Awolade Parvesh Singh Vipan Kumar 《RSC advances》2020,10(27):15836
A series of naphthalimide-chalcone/pyrazoline conjugates was prepared and evaluated for their anti-breast cancer potential against estrogen responsive, i.e. MCF-7 (ER+), and triple-negative, i.e. MDA-MB-231 (ER−), cell lines. The structure-activity-relationship (SAR) was deduced based on the influence of linker length, substituents on the phenyl ring and the generated functionalities, on anti-proliferative activities. Docking simulations further delineate the type of interactions of the designed molecules with the selected targets. This report discloses the scope of triazole tethered naphthalimide-chalcone/pyrazoline conjugates as anti breast cancer agents.Design, synthesis and anti-proliferative evaluation of naphthalimide–chalcone/pyrazoline conjugates. 相似文献