卡马西平对癫痫患者染色体畸变率和姐妹染色单体交换频率的影响及与叶酸的

目的 研究卡马西平（ＣＢＺ）的诱变性及其与叶酸的关系,探讨ＣＢＺ致畸及叶酸防止致畸的机制。方法 应用细胞遗传学方法,检测１５例单服ＣＢＺ及１５例ＣＢＺ加叶酸的癫痫患者外周血淋巴细胞染色体畸变率（ＣＡＲ）、姐妹染色单体交换（ＳＣＥ）频率,同时用放免法测定血清叶酸含量,并与未服药癫痫对照组及正常对照组进行比较。结果 单服ＣＢＺ组患者的ＣＡＲ和ＳＣＥ频率较对照组增高,其血清叶酸含量较正常对照组下降;单服ＣＢＺ组患者的ＣＡＲ和ＳＣＥ频率较服ＣＢＺ加叶酸组增高;ＣＢＺ血药浓度与叶酸水平ＣＡＲ及ＳＣＥ之间未发现明显相关性。结论 ＣＢＺ具有ＤＮＡ损伤效应,其损伤效应可能与ＣＢＺ干扰叶酸代谢有关,补充叶酸可以有效防止ＣＢＺ引起的ＤＮＡ损伤。     

Weight loss in psoriasis and psoriatic arthritis

Psoriasis is an incurable skin condition that affects between two and four in every 100 people in the Western world. It causes uncomfortable, red scaly patches on the skin, and is also linked with joint disease, high body weight (‘obesity’), heart attacks and low mood. Previous studies have shown that being obese can worsen psoriasis and it is thought that losing weight may improve it. Inspired by the difficulties faced by a patient with severe psoriasis and obesity, the authors of this U.K.-based study aimed to identify the effect of weight loss on psoriasis and whether losing weight could prevent psoriasis from developing. The authors systematically searched scientific literature databases and identified 14 relevant studies examining three key weight loss methods: lifestyle changes (diet and exercise), weight loss medications, and weight loss surgery (e.g. gastric bypass). These studies showed that weight loss following lifestyle changes can produce a consistent improvement in psoriasis in obese patients. The researchers identified few studies examining the effect of weight loss medications and weight loss surgery in individuals with psoriasis, which did not have clear or consistent results. Two studies were identified that showed that weight loss surgery can prevent the onset of psoriasis. The authors explained this information to their patient, who was encouraged to lose weight alongside other treatments he received for his psoriasis. They also created a care pathway within their psoriasis clinic to help all patients with psoriasis and obesity to lose weight.     

Hutchinson-Gilford progeria syndrome: oral and craniofacial phenotypes

Objective:  Hutchinson-Gilford progeria syndrome (HGPS) is a rare early-onset accelerated senescence syndrome. In HGPS, a recently identified de novo dominant mutation of the lamin A gene ( LMNA ) produces abnormal lamin A, resulting in compromised nuclear membrane integrity. Clinical features include sclerotic skin, cardiovascular and bone abnormalities, and marked growth retardation. Craniofacial features include 'bird-like' facies, alopecia, craniofacial disproportion, and dental crowding. Our prospective study describes dental, oral soft tissue, and craniofacial bone features in HGPS.
Methods:  Fifteen patients with confirmed p.G608G LMNA mutation (1–17 years, seven males, eight females) received comprehensive oral evaluations. Anomalies of oral soft tissue, gnathic bones, and dentition were identified.
Results:  Radiographic findings included hypodontia ( n  = 7), dysmorphic teeth ( n  = 5), steep mandibular angles ( n  = 11), and thin basal bone ( n  = 11). Soft tissue findings included ogival palatal arch ( n  = 8), median sagittal palatal fissure ( n  = 7), and ankyloglossia ( n  = 7). Calculated dental ages (9 months to 11 years 2 months) were significantly lower than chronological ages (1 year 6 months to 17 years 8 months) ( P  = 0.002). Eleven children manifested a shorter mandibular body, anterior/posterior cranial base and ramus, but a larger gonial angle, compared to age/gender/race norms.
Conclusion:  Novel oral-craniofacial phenotypes and quantification of previously reported features are presented. Our findings expand the HGPS phenotype and provide additional insight into the complex pathogenesis of HGPS.     

Trends and predictions for gastric cancer mortality in Brazil

AIM: To analyze the effect of age-period and birth cohort on gastric cancer mortality, in Brazil and across its five geographic regions, by sex, in the population over 20 years of age, as well as make projections for the period 2010-2029.METHODS: An ecological study is presented herein,which distributed gastric cancer-related deaths in Brazil and its geographic regions. The effects of ageperiod and birth cohort were calculated by the Poisson regression model and projections were made with the age-period-cohort model in the statistical program R. RESULTS: Progressive reduction of mortality rates was observed in the 1980's, and then higher and lower mortality rates were verified in the 2000's, for both sexes, in Brazil and for the South, Southeast and Midwest regions. A progressive decrease in mortality rates was observed for the Northeast(both sexes) and North(men only) regions within the period 1995-1999, followed by rising rates. CONCLUSION: Regional differences were demonstrated in the mortality rates for gastric cancer in Brazil, and the least developed regions of the country will present increases in projected mortality rates.     

Developing and Launching a Research Participant Registry

ABSTRACT

Background: A major challenge in clinical research today is the difficulty that studies have in meeting recruitment goals. Up to 48% of studies do not meet accrual goals within the specified timeframe, significantly delaying the progress of projects and the dissemination of findings. This pervasive problem is a recruitment crisis. We developed a representative, ethnically and racially diverse research participant registry in a predominantly rural state with high levels of health care disparities and minority populations. We sought input at each step of development from members of community advisory boards (CABs) across Arkansas. We report how community involvement in the development of the registry was implemented.

Methods: Members of CABs were partners in developing all aspects of the registry website, including the name, content, appearance, educational messages, and testimonials used. Constructs from the Health Belief Model informed the educational messages and supported the intense multimedia campaign used to launch and promote ongoing registrations. Using CAB guidance, community events were held throughout the state of Arkansas at venues with diverse racial and ethnic attendance.

Results: From April 1, 2016 to September 1, 2017, 4,002 people registered statewide who match the demographic profile of Arkansas.

Conclusion: CAB involvement in the registry, multiple cues to action, and face-to-face contact with diverse lay audiences throughout the state were key components of the successful registry launch.     

Comparing Parents' and Children's Views of Children's Quality of Life After Heart Transplant

PURPOSE.  The purpose of this focused ethnographic study was to explore the quality of life (QOL) of school-age heart-transplant recipients.
DESIGN AND METHODS.  Semistructured interviews were conducted with 11 parent–child dyads. Data were analyzed using content analysis and constant comparison.
RESULTS.  Participants identified key factors impacting the children's QOL including: participation in normal activities, normalcy, staying healthy, sources of strength and support, and struggles (parents' perspectives) and doing what kids do, being with family and friends, and being a heart transplant kid (children's perspectives).
PRACTICE IMPLICATIONS.  Interventions focusing on the key factors identified by participants may impact the QOL of school-age heart-transplant recipients.