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981.
Alper SARI Erdal BODAK Berkan ARMAAN Hasan SATI Nuh ATA Nazife Sule YAAR BLGE Reyhan BLC SALMAN Gzde Kübra YARDIMCI Hakan BABAOLU Levent KILI Mehmet Akif
ZTÜRK eminur HAZNEDAROLU Berna G
KER Umut KALYONCU Timuin KAFOLU Abdurrahman TUFAN 《Turkish Journal of Medical Sciences》2021,51(4):1695
Background/aimFamilial Mediterranean Fever (FMF) is the prototype of hereditary autoinflammatory disorders and caused by mutations on the MEFV gene located on the short arm of chromosome 16. Although some MEFV variants are clearly associated with disease phenotype, there are numerous variants with unknown clinical association which are termed as variants of uncertain significance (VUS). Here, we present clinical correlations of VUS in a large cohort of adult FMF patients from three tertiary centers located in Central Anatolia.Materials and methodsAll patients were recruited from FMF in Central Anatolia (FiCA) cohort. Demographic (sex, age at disease onset) and clinical features (disease characteristics, attack frequency, mean colchicine dose, colchicine nonresponsiveness, amyloidosis, and persistent inflammation) of patients with VUS were compared with those harboring pathogenic variants. Disease severity and damage were also evaluated using international severity score for FMF (ISSF) and autoinflammatory disease damage index (ADDI), respectively.ResultsAmong 971 participants included, MEFV gene analysis results were available for 814 patients. Twenty-six (3.2%) patients had single heterozygous VUS and 54 (6.6%) had pathogenic/VUS complex heterozygous variants. Patients with single heterozygous VUS had similar demographic/clinical features, ISSF and ADDI scores compared to those with single heterozygous pathogenic variant (p > 0.05 for all). No difference was observed in the demographic and clinical features of patients with single heterozygous pathogenic mutation and pathogenic/VUS complex heterozygous variant (p > 0.05 for all). ISSF and ADDI scores were lower in pathogenic/VUS complex heterozygous patients than those harboring single pathogenic mutation (p = 0.006 and 0.004, respectively).ConclusionOur findings suggest that patients with single heterozygous VUS has mild FMF phenotype similar to those with single pathogenic mutation. Pathogenic/VUS complex heterozygosity does not lead to a more severe clinical phenotype than having a single pathogenic variant. 相似文献
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Erdal BODAK Nazife ule YAAR BLGE Nuh ATA Berkan ARMAAN Hasan SATI Alper SARI Reyhan BLC SALMAN Gzde KÜBRA YARDIMCI Hakan BABAOLU Levent KILI Mehmet AKF
ZTÜRK Berna G
KER eminur HAZNEDAROLU Umut KALYONCU Abdurrahman TUFAN Timuin KAFOLU 《Turkish Journal of Medical Sciences》2021,51(4):1706
Background/aim Peritonitis attacks of Familial Mediterranean Fever (FMF) usually requires emergency medical admissions and it’s hard to distinguish a typical abdominal attack from surgical causes of acute abdomen. Therefore, history of abdominal surgery, particularly appendectomy, is very common in patients with FMF. However, history of appendectomy might also give some clues about the course of FMF in the adulthood. This study was to determine whether the history of appendectomy help to anticipate disease course of FMF in the adulthood. Materials and methods All patients recruited from FMF in Central Anatolia (FiCA) cohort, comprising 971 adult subjects. All patients fulfilled the Tel Hashomer criteria. Demographic data, FMF disease characteristics, co-morbid conditions, past medical history, surgical history and disease complications were meticulously questioned and laboratory features and genotype data (if available) were recruited from patient files. Results Appendectomy history was evident in 240 (24.7%) subjects. Disease onset was earlier and peritonitis is strikingly more prevalent (97.1% vs. 89.6%, p < 0.001) in appendectomized patients. These patients had reported almost two fold more frequent attacks in the last year compared to appendix intact patients (median 3.5 vs. 2 attacks, p = 0.001) without a difference in frequency of musculoskeletal and skin attacks. Severe disease was more common (10% vs. 5.9%, p = 0.038) due to involvement of more attack sites throughout the life and more frequent attacks. Appendectomy patients had used higher daily doses of colchicine to control disease (1.43 ± 0.6 mg vs. 1.27 ± 0.52 mg, p = 0.002) but colchicine resistance was also more common in these patients, 15% vs. 6.7% respectively, p < 0.001.ConclusionAppendectomy history is common in FMF patients and associated with frequent serositis attacks in adulthood. These patients require higher colchicine doses with a lower rate of response and more need for Interleukin-1 antagonist therapies. 相似文献
983.
Emergency Medicine Resident Assessment of the Emergency Ultrasound Milestones and Current Training Recommendations
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Lori A. Stolz MD FACEP Uwe Stolz MPH PhD J. Matthew Fields MD FACEP Turandot Saul MD Michael Secko MD FACEP Matthew J. Flannigan DO Johnathan M. Sheele MD MPH MHS Robert P. Rifenburg DO RDMS FACEP Anthony J. Weekes MD Elaine B. Josephson MD FACEP John Bedolla MD FACEP Dana M. Resop MD Jonathan dela Cruz MD Megan Boysen‐Osborn MD MHPE Terrell Caffery MD Charlotte Derr MD Rimon Bengiamin MD Gerardo Chiricolo MD FACEP Brandon Backlund MD FACEP Jagdipak Heer MD Robert J. Hyde MD MA FACEP Srikar Adhikari MD MS 《Academic emergency medicine》2017,24(3):353-361
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Munya Hayek Thomas I. Mackie Christina M. Mulé Christopher Bellonci Justeen Hyde Jennifer S. Bakan Laurel K. Leslie 《Administration and policy in mental health》2014,41(4):552-567
When compared with the general United States child population, children entering foster care have elevated rates of mental health problems. This study examines: (1) state approaches to mental health evaluations for children entering foster care for the first time, (2) the consistency of these approaches with professional guidelines, and (3) whether the specific instruments endorsed are supported by available evidence. Semi-structured qualitative interviews and a document review of available protocols/policies were conducted for 47 states and the District of Columbia. All states endorsed mental health evaluations; variation existed between states in approach, timeframe, administrator, and specific instruments endorsed. 相似文献
987.
Justeen K. Hyde Thomas I. Mackie Lawrence A. Palinkas Emily Niemi Laurel K. Leslie 《Administration and policy in mental health》2016,43(1):52-66
Considerable attention is being given to the use of research evidence to inform public policy making. Building upon Weiss’s model of research utilization, we examined the types and uses of evidence that child welfare administrators used in response to federal policy reforms requiring psychotropic medications oversight for children in foster care. Participants relied on a range of “global” and “local” evidence types throughout the policy development phase. Global research evidence was used to raise awareness about problems associated with psychotropic medication use. Local evidence helped to contextualize concerns and had problem-solving and political uses. In most states, policy actions were informed by a combination of evidence types. 相似文献
988.
Process and impact of patient involvement in a systematic review of shared decision making in primary care consultations
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