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31.
A child with impaired fasting glucose was found to be heterozygous for a novel variant at c.659G>A in GCK and a variant at c.1663C>T in HNF1A. Structural modeling and clinical correlation suggests that the GCK variant causes monogenic diabetes while the variant in HNF1A is unlikely to be pathogenic. 相似文献
32.
Talamo G Rakszawski KL Rybka WB Dolloff NG Malysz J Berno T Zangari M 《European journal of haematology》2012,89(2):145-150
High‐dose melphalan (HD‐Mel) is considered the current standard of care among the preparative regimens used in autologous peripheral blood stem cell transplantation (SCT) for multiple myeloma (MM), but optimal time and schedule of administration is not defined. We retrospectively analyzed outcomes and toxicities of HD‐Mel administered on day ‐2 vs. day ‐1 before autologous stem cells infusion. A total of 138 consecutive MM patients treated at Penn State Hershey Cancer Institute between 2007 and 2010 were included in this study. No difference in time to hematopoietic recovery, common SCT‐related toxicities, and clinical outcomes was seen between patients who received HD‐Mel on day ‐2 (group A, n = 47), and those who received it on day ‐1 (group B, n = 91). Prompt and full hematopoietic recovery occurred even when stem cells were infused between 8 and 24 h after completion of chemotherapy. In the absence of prospective and randomized data, we conclude that a single I.V. infusion of HD‐Mel on day ‐1 is a safe and effective practice, and the so‐called ‘day of rest’ before the transplant appears not to be necessary. 相似文献
33.
34.
Dipeptidyl peptidase IV inhibition improves cardiorenal function in overpacing-induced heart failure
35.
36.
Jozef Benka Iveta Nagyova Jaroslav Rosenberger Zelmira Macejova Ivica Lazurova Jac L. L. van der Klink 《Disability and rehabilitation》2016,38(12):1172-1179
Purpose: The aim of the study was to examine whether rheumatoid arthritis (RA) patients with different levels of restriction in social participation differ in disease related as well as psychosocial variables and whether a similar pattern can be found among early and established RA patients.Method: Two samples of RA patients with early (n?=?97; age?=?53?±?12.3 years; disease duration?= 2.8?±?1.2 years; 76% women) and established (n?=?143; age?=?58?±?10.3 years; disease duration?= 16.1?±?3.6 years; 86% women) were collected. The pattern of differences for the patients with different level of participation restriction (no restriction, mild, moderate or high restriction) was explored by the Jonckheere–Terpstra test. Results: Significant differences were found between patients with different levels of social participation restrictions in both samples in pain, fatigue, functional disability, anxiety, depression and mastery. Generally, it was found that patients with higher restrictions experienced more pain and fatigue, more anxiety and depression and reported lower mastery. Similar pattern of differences concerning disease activity and self-esteem was found mainly in the established group. Conclusions: The study shows that the level of perceived restrictions in social participation are highly relevant regarding the disease related variables such as pain, fatigue and functional disability as well as psychological status and personal resources in both early and established RA.
- Implications for Rehabilitation
Supporting involvement and participation of individuals with rheumatoid arthritis is important for decreasing the impact of RA symptoms on everyday life.
Recognition and empowerment of individual resources such a mastery and self-esteem of RA patients could be beneficial for overcoming restrictions in participation.
37.
Vandamme K Naert I Geris L Vander Sloten J Puers R Duyck J 《Journal of clinical periodontology》2007,34(2):172-181
AIM: Tissue formation at the implant interface is known to be sensitive to mechanical stimuli. The aim of the study was to compare the bone formation around immediately loaded versus unloaded implants in two different implant macro-designs. MATERIAL AND METHODS: A repeated sampling bone chamber with a central implant was installed in the tibia of 10 rabbits. Highly controlled loading experiments were designed for a cylindrical (CL) and screw-shaped (SL) implant, while the unloaded screw-shaped (SU) implant served as a control. An F-statistic model with alpha=5% determined statistical significance. RESULTS: A significantly higher bone area fraction was observed for SL compared with SU (p<0.0001). The mineralized bone fraction was the highest for SL and significantly different from SU (p<0.0001). The chance that osteoid- and bone-to-implant contact occurred was the highest for SL and significantly different from SU (p<0.0001), but not from CL. When bone-to-implant contact was observed, a loading (SL versus SU: p=0.0049) as well as an implant geometry effect (SL versus CL: p=0.01) was found, in favour of the SL condition. CONCLUSIONS: Well-controlled immediate implant loading accelerates tissue mineralization at the interface. Adequate bone stimulation via mechanical coupling may account for the larger bone response around the screw-type implant compared with the cylindrical implant. 相似文献
38.
Montoliu C Humet M Canales JJ Burda J Planells-Cases R Sánchez-Baeza F Carbonell T Pérez-Payá E Messeguer A Ferrer-Montiel A Felipo V 《The Journal of pharmacology and experimental therapeutics》2002,301(1):29-36
Excitotoxicity has been implicated in the etiology of ischemic stroke and chronic neurodegenerative disorders. Hence, the development of novel neuroprotectant molecules that ameliorate excitotoxic brain damage is vigorously pursued. We used a neuroprotection-based cellular assay to screen a synthetic combinatorial library of N-alkylglycine trimers. Two compounds (6-1-2 and 6-1-10) that efficiently prevented excitotoxic neurodegeneration in vitro and in vivo were identified. Both molecules protected primary cultures of cerebellar neurons against glutamate-induced neuronal death with an efficiency equivalent to N-methyl-D-aspartate (NMDA) receptor antagonists. These trialkylglycines did not block appreciably the NMDA receptor channel, or attenuated glutamate-induced increase of Ca(2+), or affect the glutamate-nitric oxide-cGMP pathway. Intraperitoneal injection of both peptoids in mice attenuated > or = 80% ammonia-induced, NMDA receptor-mediated animal death. Furthermore, these two molecules reduced by > or = 50% the neurodegeneration in striatum in a rat model of cerebral ischemia. Neuroprotection against ischemia was associated with decreased activation of caspase-3, reflecting prevention of apoptotic neuronal death. Collectively, the results reported indicate that these trialkylglycines are new neuroprotectant leads with important in vivo activity against excitotoxicity, and that they act on a novel, yet-unrecognized cellular target. These lead compounds may become tolerated drugs for the treatment of acute and chronic neurodegenerative diseases with fewer side effects than NMDA receptor antagonists. 相似文献
39.
Jozef Verbelen Henk Hoeksema Alexander Heyneman Ali Pirayesh Stan Monstrey 《Burns : journal of the International Society for Burn Injuries》2014
Introduction
Studies comparing contemporary silver dressings in burns are scarce.Methods
In a prospective, randomized, controlled study, counting 50 patients/research group, we compared two frequently used silver dressings, Acticoat™ and Aquacel® Ag, in the management of partial thickness burns with a predicted healing time between 7 and 21 days as assessed by laser Doppler imaging between 48 and 72 h after burn. Variables investigated were related to baseline research group characteristics, wound healing, bacteriology, economics, nurse, and patient experience.Results
Both research groups were comparably composed taking into account gender, age and burn characteristics. Similar results were obtained as to healing time and bacterial control with both silver dressings. A statistically significant difference in favor of the Aquacel® Ag dressing was found for average ease of use (p < 0.001), average ease of application (p = 0.001), patient pain (p < 0.001), patient comfort with the dressing (p = 0.017), silver staining (p < 0.001), and cost effectiveness (p < 0.001).Conclusion
Both silver dressings resulted in comparable healing times and bacterial control but the Aquacel® Ag dressing significantly increased comfort for patients as well as nurses and was significantly more cost-effective than the Acticoat™ dressing for the given indication. 相似文献40.
Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations
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Ingrid E. Scheffer MB BS PhD Sarah E. Heron BSc PhD Brigid M. Regan BSc Simone Mandelstam MB ChB Douglas E. Crompton MBBS PhD Bree L. Hodgson Dip Biomed Sci Laura Licchetta MD Federica Provini MD PhD Francesca Bisulli MD PhD Lata Vadlamudi MB BS PhD Jozef Gecz PhD Alan Connelly PhD Paolo Tinuper MD Michael G. Ricos BSc PhD Samuel F. Berkovic MD FRS Leanne M. Dibbens BSc PhD 《Annals of neurology》2014,75(5):782-787
We recently identified DEPDC5 as the gene for familial focal epilepsy with variable foci and found mutations in >10% of small families with nonlesional focal epilepsy. Here we show that DEPDC5 mutations are associated with both lesional and nonlesional epilepsies, even within the same family. DEPDC5‐associated malformations include bottom‐of‐the‐sulcus dysplasia (3 members from 2 families), and focal band heterotopia (1 individual). DEPDC5 negatively regulates the mammalian target of rapamycin (mTOR) pathway, which plays a key role in cell growth. The clinicoradiological phenotypes associated with DEPDC5 mutations share features with the archetypal mTORopathy, tuberous sclerosis, raising the possibility of therapies targeted to this pathway. Ann Neurol 2014;75:782–787 相似文献