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61.
62.
Arruda VR; Pieneman WC; Reitsma PH; Deutz-Terlouw PP; Annichino-Bizzacchi JM; Briet E; Costa FF 《Blood》1995,86(8):3015-3020
The molecular characterization of the mutations in hemophilia A patients is hampered by the large size of the factor VIII gene and the great heterogeneity of mutations. In this study, we have performed a protocol involving multiplex polymerase chain reaction in which 19 exons were amplified in four different combinations followed by nonradioactive single-strand conformational polymorphism (SSCP) to screen for mutations. Southern blotting was used to detect inversion of the factor VIII gene resulting from recombination between copies of the gene A (F8A) located in intron 22 of the factor VIII gene and two copies close telomeric region of X chromosome. Forty-two hemophilia A patients (21 with severe and 21 with mild-to-moderate disease) were studied. The inversion of factor VIII occurred in 13 of 21 patients affected by severe hemophilia A. One patient showed a large extra band in addition to the three bands observed after Southern blotting with the F8A probe. An abnormal electrophoretic pattern of SSCP was detected in 85% and 50% of the patients affected by mild-to-moderate and severe disease, respectively. Sixteen different mutations were identified. Eleven mutations were novel and comprised 9 point mutations and 2 small deletions. This study shows that the methodology used is safe and rapid and has potential for detecting almost all of the genetic defects of the studied hemophilia A patients. 相似文献
63.
Shalender Bhasin MB BS Thomas G. Travison PhD Todd M. Manini PhD Sheena Patel MS Karol M. Pencina PhD Roger A. Fielding PhD Jay M. Magaziner PhD Anne B. Newman MD MPH Douglas P. Kiel MD Cyrus Cooper DM FMedSci Jack M. Guralnik MD PhD Jane A. Cauley Dr.PH Hidenori Arai MD PhD Brian C. Clark PhD Francesco Landi MD PhD Laura A. Schaap PhD Suzette L. Pereira PhD Daniel Rooks PhD Jean Woo MD PhD Linda J. Woodhouse PhD Ellen Binder MD Todd Brown MD Michelle Shardell PhD Quian-Li Xue PhD Ralph B. DʼAgostino Sr PhD Denise Orwig PhD Greg Gorsicki PhD Rosaly Correa-De-Araujo MD PhD Peggy M. Cawthon PhD 《Journal of the American Geriatrics Society》2020,68(7):1410-1418
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Amanda M Balkhi Adam M Reid Joseph PH McNamara Gary R Geffken 《Pediatric diabetes》2014,15(6):408-415
Online forums for chronic health conditions emerged as early as 30 yr ago and interest in their study has blossomed. Type 1 diabetes (T1D) forums have grown exponentially since 2005. Therefore, a comprehensive evaluation of these forums is needed. This study assesses the demographics and motivations of parents who use type 1 diabetes forums and the potential impact that forum membership (FM) has on parenting stress and hypoglycemic fear. One hundred and two parents were recruited through online T1D forums and asked to complete qualitative and quantitative measures of their experience with the T1D forums. Results of this study suggest that parents who use T1D forums mirror those who participate in clinic‐based research protocols and are primarily motivated to participate in forums to increase their diabetes knowledge and gain social support. Indeed, parents who use T1D forums report high levels of trust, social support, and perceived knowledge gained. However, FM was positively related to increased self‐reported parenting stress frequency and hypoglycemic fear behaviors. Taken together, the relationships formed within these communities may have a significant impact on the experience of these caregivers. The need for future research and potential implications for physicians, including parent debriefing, are discussed. 相似文献
66.
Alexander E White Andrew FW Ho Nur Shahidah Nurul Asyikin Le Xuan Liew Pin Pin Pek Jade PH Kua Michael YC Chia Yih Yng Ng Shalini Arulanandam Sieu-Hon Benjamin Leong Marcus EH Ong 《Singapore medical journal》2021,62(8):438
Care for patients who experience out-of-hospital cardiac arrest (OHCA) has rapidly evolved in the past decade. Increased sophistication of care in the community, emergency medical services (EMS) and hospital setting is associated with improved patient-centred outcomes. Notably, Utstein survival doubled from 11.6% to 23.1% between 2011 and 2016. These achievements involved collaboration between policymakers, clinicians and researchers, and were made possible by a strategic interplay of policy, research and implementation. We review the development and current state of OHCA in Singapore using primary population-based data from the Pan-Asian Resuscitation Outcomes Study and an unstructured search of research databases. We discuss the roles of important milestones in policy, community, dispatch, EMS and hospital interventions. Finally, we relate these interventions to relevant processes and outcomes, such as the relationship between the strategic implementation of bystander cardiopulmonary resuscitation and placement of automated external defibrillator with return of spontaneous circulation, survival to discharge and survival with favourable neurological outcomes. 相似文献
67.
S. Goya Wannamethee A. Gerald Shaper Peter H. Whincup Lucy Lennon Olia Papacosta Naveed Sattar 《International journal of cardiology》2014
Aims
We have investigated the role of muscle mass, natriuretic peptides and adipokines in explaining the obesity paradox.Background
The obesity paradox relates to the association between obesity and increased survival in patients with coronary heart disease (CHD) or heart failure (HF).Methods
Prospective study of 4046 men aged 60–79 years followed up for a mean period of 11 years, during which 1340 deaths occurred. The men were divided according to the presence of doctor diagnosed CHD and HF: (i) no CHD or HF ii), with CHD (no HF) and (iii) with HF.Results
Overweight (BMI 25–9.9 kg/m2) and obesity (BMI ≥ 30 kg/m2) were associated with lower mortality risk compared to men with normal weight (BMI 18.5–24.9 kg/m2) in those with CHD [hazards ratio (HR) 0.71 (0.56,0.91) and 0.77 (0.57,1.04); p = 0.04 for trend] and in those with HF [HR 0.57 (0.28,1.16) and 0.41 (0.16,1.09; p = 0.04 for trend). Adjustment for muscle mass and NT-proBNP attenuated the inverse association in those with CHD (no HF) [HR 0.78 (0.61,1.01) and 0.96 (0.68,1.36) p = 0.60 for trend) but made minor differences to those with HF [p = 0.05]. Leptin related positively to mortality in men without HF but inversely to mortality in those with HF; adjustment for leptin abolished the BMI mortality association in men with HF [HR 0.82 (0.31,2.20) and 0.99 (0.27,3.71); p = 0.98 for trend].Conclusion
The lower mortality risk associated with excess weight in men with CHD without HF may be due to higher muscle mass. In men with HF, leptin (possibly reflecting cachexia) explain the inverse association. 相似文献68.
GERIT MULDER D.P.M. RICHARD JONES F.I.M.L.S. STEWART CEDERHOLM-WILLIAMS PH.D. GEORGE CHERRY PH.D. TERENCE RYAN M.D. 《International journal of dermatology》1993,32(4):304-306
Background. Pericapillary fibrin cuffs (PFC) are a recognized part of the pathology of venous stasis ulcers. A hydrocolloid dressing capable of lysing wound surface fibrin was tested in venous ulcers for its capacity to lyse pericapillary fibrin below the wound surface. Methods. Tissue biopsies from the rims of 19 venous ulcers were evaluated for thickness of shallow and deep dermal PFCS before and after treatment with DuoDERM covered by Unna's boot and a compression bandage (DD+UB; n=9) versus the same treatment without the hydrocolloid dressing (UB; n=10). Frozen sections of all biopsies were stained with an immunofluorescent antibody to fibrin for rating of PFC thickness. Separate sections were stained with hematoxylin and eosin to assess capillary frequency, histopathology, and inflammation. All ratings and pathology assessments were performed blinded to treatment conditions. Results. Both deep and shallow PFCS were reduced in 89% of ulcers treated with DD+UB versus 40% of ulcers treated with UB (α < 0.04). No other significant differences in inflammation, histopathology, or capillary frequency were observed. Conclusions. Treatment with DD+UB reduced PFCS in twice the number of ulcers than UB alone in 1 week. This is the first scientific documentation that a topical wound dressing could reduce the pathophysiology associated with venous ulcers, beyond the known beneficial effect of graduated compression. Not all hydrocolloid dressings are fibrinolytic, so this effect may not generalize to other dressings. 相似文献
69.