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71.
New recessive truncating mutation in LTBP3 in a family with oligodontia,short stature,and mitral valve prolapse 下载免费PDF全文
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Saima Ejaz Anwar Ali Kamran Azim Atif Mahmood Asif I. Khan Tuline A. Almazyad Bushra Bilal 《Saudi medical journal》2020,41(11):1234
Objectives:To investigate the relationship between a prostasin gene variations and the development of preeclampsia in a Pakistani female population.Methods:This was a case-control study carried out at University of Karachi, Karachi, Pakistan between May 2018 and 2019. A single nucleotide polymorphism (SNP) at rs12597511 locus was examined with polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) analyses in 76 preeclamptic and 74 normotensive expecting mothers.Results:We observed significantly increased risk of preeclampsia associated with the CC genotype of rs12597511 polymorphism as compared to TT (p<0.001, OR=8.08, 95% CI:1.28-31.19) and TT/TC (p<0.001, OR=14.66 and 95% CI: 3.31-65.07) genotypes carriers. Calculation of the allelic distribution revealed a higher frequency of the T allele (82%) among controls; however, the C allele was more prevalent in the preeclamptic group (36%) significantly.Conclusion:The significantly higher C allele frequency in the prostasin gene at the rs12597511 locus in the preeclamptic group indicates that the distribution of the C allele of the prostasin gene is a potential risk factor contributing to the development of preeclampsia. 相似文献
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Kashif B. Naeem Mahmood Y. Hachim Ibrahim Y. Hachim Ayman Chkhis Rajesh Quadros Haifa Hannawi Issa Al Salmi Fahdah Alokaily Suad Hannawi 《Saudi medical journal》2020,41(11):1204
Objectives:To evaluate acute cardiac injury in COVID-19 patients and its association with adverse outcomes including mortality in the United Arab Emirates (UAE) population.Methods:A retrospective study conducted between February and June 2020 in Dubai, UAE, for all laboratory-confirmed Coronavirus disease-19 patients. Demographic, clinical, laboratory, radiological, and clinical outcomes were compared between patients with and without acute cardiac injury.Results:During the study period, 203 patients were included, of which, 44 (21.7%) had evidence of acute cardiac injury. Compared with patients without acute cardiac injury, patients with acute cardiac injury were: older, had more shortness of breath, diabetes, hypertension, and more bilateral airspace shadowing on admission chest radiography. These patients also had a higher neutrophil count, C-reactive protein, procalcitonin, ferritin, D-dimers and lactate dehydrogenase but lower lymphocyte count. Regarding outcomes, these patients had higher intensive care admissions; a higher rate of complications including acute kidney and liver injury, acidosis, septic shock, acute respiratory distress syndrome, needed more mechanical ventilation, and had a significantly higher risk of death.Conclusion:Acute cardiac injury is common among Coronavirus disease-19 patients. These patients present with higher comorbidities, have high inflammatory markers and have greater risk for in-hospital multi-organ damage, need for mechanical ventilation, and death. Prompt full assessment and intervention are recommended. 相似文献
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Mastura Shafinaz Zainal Abidin Tahsin Morshed Hironori Chikita Yuki Kinoshita Shunpei Muta Mohammad Anisuzzaman Jong-Hyeok Park Ryo Matsumura Mohamad Rusop Mahmood Taizoh Sadoh Abdul Manaf Hashim 《Materials》2014,7(2):1409-1421
The effects of annealing temperatures on composition and strain in SixGe1−x, obtained by rapid melting growth of electrodeposited Ge on Si (100) substrate were investigated. Here, a rapid melting process was performed at temperatures of 1000, 1050 and 1100°C for 1 s. All annealed samples show single crystalline structure in (100) orientation. A significant appearance of Si-Ge vibration mode peak at ~00 cm−1 confirms the existence of Si-Ge intermixing due to out-diffusion of Si into Ge region. On a rapid melting process, Ge melts and reaches the thermal equilibrium in short time. Si at Ge/Si interface begins to dissolve once in contact with the molten Ge to produce Si-Ge intermixing. The Si fraction in Si-Ge intermixing was calculated by taking into account the intensity ratio of Ge-Ge and Si-Ge vibration mode peaks and was found to increase with the annealing temperatures. It is found that the strain turns from tensile to compressive as the annealing temperature increases. The Si fraction dependent thermal expansion coefficient of SixGe1−x is a possible cause to generate such strain behavior. The understanding of compositional and strain characteristics is important in Ge/Si heterostructure as these properties seem to give significant effects in device performance. 相似文献
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Jared MP Bullard Arshad N Ahsanuddin Anamarija M Perry L Robbin Lindsay Mahmood Iranpour Antonia Dibernardo Paul G Van Caeseele 《The Canadian Journal of Infectious Diseases & Medical Microbiology》2014,25(6):e87-e89
A child with a complicated medical history that included asplenia acquired an infection with Babesia microti in the summer of 2013 and had not travelled outside of Manitoba. Although the clinical findings were subtle, astute laboratory work helped to reach a preliminary identification of Babesia species, while reference laboratory testing confirmed the diagnosis. Blacklegged ticks (Ixodes scapularis) are known to transmit Borrelia burgdorferi and Anaplasma phagocytophilum in the province; however, the present case represents the first known instance of tick-borne B microti, both in Manitoba and in Canada. The expanding territory of the blacklegged tick increases the relevance of this emerging infection. Clinicians, laboratory medical practitioners and public health officials should be aware of B microti as a potential locally acquired infection in Canada. 相似文献
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Noman F Mahmood SF Asif S Rahim N Khan G Hanif B 《American journal of infection control》2012,40(5):479-480
We describe a comprehensive surveillance system involving infection control practitioners, surgeons, administrative staff, and patients aimed at improving the postdischarge surveillance of surgical site infections. The system was able to detect 22 infections out of 538 procedures, 95% of which were detected during the postdischarge period. 相似文献
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Alana J. Coleman Beverly Brozanski Burhan Mahmood Peter D. Wearden Douglas Potoka Bradley A. Kuch 《Journal of pediatric surgery》2013