静息心率与2型糖尿病发病风险的Meta分析

目的 系统评价静息心率与2型糖尿病发病风险的关系。方法 通过检索中国知网、万方、PubMed和Web of Science数据库,查找关于静息心率与2型糖尿病发病风险的队列研究,按照严格的纳入排除标准筛选文献、提取数据并进行质量评价,运用Stata 11.0软件对纳入的文献进行综合分析,并按种族、静息心率测量方法、随访时间、样本量对文献进行亚组分析。结果 共纳入11篇队列研究文献,总样本量为212 891人。分析结果显示,与静息心率最低分类组相比,静息心率最高分类组人群2型糖尿病发病风险的合并效应值RR=1.54,95% CI:1.29~1.84,亚组分析结果显示,亚洲人和高加索人2型糖尿病发病风险分别为1.67（1.38~2.03）和1.29（1.02~1.62）。Begg's检验（P=0.350）和Egger's检验（P=0.662）未发现发表偏倚。结论 静息心率升高可以增加2型糖尿病发病风险,提示控制静息心率能够降低2型糖尿病的发病风险。     

静息心率与老年慢性心力衰竭预后的相关性分析

目的探讨老年慢性心力衰竭（CHF）患者入院时静息心率与其心功能及预后的相关性。方法选择213例老年CHF患者，按入院时静息心率（治疗前心率）分为3组：CHF 1组（静息心率48～79次／min），CHF 2组（静息心率80～99次／min），CHF3组（静息心率100～140次／min）。并在循证医学标准治疗的基础上，对其入院、出院时及随访的心功能及预后进行分析。结果老年CHF患者入院时的静息心率与出院时的疗效（相关系数-0．163；P=0．017）、随访疗效（相关系数-0．161；P=0．019）显著负相关；与总死亡率（相关系数0．162；P=0．018）显著正相关。亚组分析显示：CHF1组、2组、3组间总有效率分别为92．7％、77．5％、73．2％；1组与2、3组间比较差异有统计学意义（P=0．011；P=0．007）。总死亡率分别为7．3％、22．5％、26.8％；1组与2、3组间比较差异有统计学意义（P=0．017；P=0．009），2、3组间比较差异无统计学意义。结论静息心率可作为判断老年CHF治疗效果和预后的预测指标之一。     

中国80岁及以上高龄老人静息心率与全因死亡风险的前瞻性队列研究

目的探讨中国80岁及以上高龄老人静息心率与全因死亡风险的关联。方法采用中国老年健康影响因素跟踪调查(CLHLS)七次(1998、2000、2002、2005、2008、2011和2014年)调查数据。以年龄在80周岁以上的17886名高龄老人为研究对象,通过基线调查收集对象的静息心率次数,并随访研究对象的生存结局和死亡时间。根据研究对象的静息心率次数将其分为6组。采用Cox比例风险模型评估静息心率与死亡风险间的关联,并采用似然比检验分析年龄、性别与静息心率的交互作用。结果17886名研究对象的年龄M(P₂₅,P₇₅)为92(86,100)岁,其中女性10531名(58.9%),共计13598名老年人死亡,死亡密度为195.5/1000人年。多因素Cox比例风险回归模型分析结果显示,与静息心率60~69次/min组相比,静息心率70~79、80~89、90~99、≥100次/min的死亡风险HR(95%CI)值分别为1.06(1.02,1.11),1.09(1.04,1.15),1.23(1.14,1.34),1.25(1.08,1.44)(P值均<0.05)。似然比检验发现,静息心率与年龄存在交互作用(P_交互值=0.011)。结论高龄老人全因死亡的发生风险随静息心率次数的增加而上升,在80~89岁老年人群中相对显著。     

静息心率对高血压及非高血压人群脑卒中发病影响的前瞻性队列研究

目的 探讨贵州省人群静息心率对高血压及非高血压人群脑卒中发病的影响,为脑卒中的防控提供科学依据。方法 采取了多阶段整群随机抽样在贵州省抽取12个市（县、区）9 280名18岁及以上居民开展基线调查,并于2016—2020年开展随访,选取无脑卒中诊断的7 963人作为研究对象,使用竞争风险模型计算风险比（SHR）及95%CI值。结果 研究共纳入7 963人分析,中位随访6.50年后,共有202人发生或死于脑卒中疾病,发病密度为3.62/1 000人年。竞争风险模型调整相关因素分析结果显示:未发现在非高血压人群中静息心率（RHR）与各类脑卒中发病之间的相关性;在高血压人群中,当RHR≥76次/min时,脑卒中和缺血性脑卒中发病风险是RHR＜76次/min人群的1.896（SHR = 1.896,95%CI:1.170～3.072）和2.585（SHR = 2.585,95%CI:1.400～4.764）倍,但不会增加出血性脑卒中发病的风险（SHR = 0.919,95%CI:0.428～1.974）。结论 RHR与非高血压人群卒中的发生无相关性,控制RHR至76次/min以下将有效降低高血压人群脑卒中、缺血性脑卒中发病的风险。     

中年人静息心率与心血管病发病风险的相关性研究

目的通过研究中年人群静息心率与心血管病危险因素及发病风险之间的关系,探讨静息心率在心血管病预测中的作用。方法调查2011年4月-2012年6月于本院体检的35~64岁无心血管疾病史的社区居民2 051名,通过问卷调查、体格检查、血清生化对其进行10年发病风险预测,分析静息心率与心血管病危险因素及10年发病风险之间的关系。结果 1)不论性别,血压值、空腹血糖值及糖尿病、高血压患病率在高心率组均明显高于低心率组。2)男性高心率组胆固醇水平、甘油三酯水平、吸烟、高血压家族史及2个以上危险因素者比例均明显高于低心率组(P均0.05),而女性差异无统计学意义(P0.05)。女性高心率组中心型肥胖比例明显升高(P=0.018),且心率与年龄呈负相关(P=0.005)。3)心率增快的独立危险因素的回归分析显示,男性包括吸烟、高血压家族史、高血压与糖尿病;女性包括年龄、腰臀比、高血压与糖尿病。4)男性心率与10年心血管病发病风险评分呈正相关(P=0.003),而女性差异无统计学意义(P=0.174)。结论在35~64岁男性人群,心率与10年心血管病发病风险呈正相关,上述人群监测静息心率对预测心血管疾病风险具有重要意义。     

浙江省德清县农村社区居民饮食偏好与2型糖尿病发病关系前瞻性队列研究

目的了解浙江省德清县农村社区居民饮食偏好与2型糖尿病(T2DM)发病的关系,为采取相应的干预措施提供参考依据。方法采用动态前瞻性队列研究方法于2006-2008年、2011—2012年和2013—2014年随机抽取浙江省德清县2个、6个和7个农村社区未患糖尿病的28 233名居民作为研究对象进行问卷调查、体格检查和实验室检测;采用单因素和多因素Cox回归模型分析饮食偏好与T2DM发病的关系。结果至2015年11月,德清县28 233名农村社区居民中有2 773人失访(其中874人死亡),失访率为9.82%。T2DM新发病例369例,发病密度为3.13/千人年;饮食均衡者、以素食为主者和以荤食为主者新发T2DM病例分别为227例、46例和96例,发病密度分别为2.59/千人年、2.88/千人年和6.67/千人年。单因素Cox回归分析结果显示,浙江省德清县以荤食为主的农村社区居民T2DM发病风险为饮食均衡居民的2.58倍(HR=2.58,95%CI=2.03～3.27);在控制了性别、年龄、文化程度、是否务农、是否吸烟、是否饮酒、是否饮茶、BMI、是否高血压、是否空腹血糖受损、糖尿病家族史等11个混杂因素后,多因素Cox回归分析结果显示,浙江省德清县以荤食为主的农村社区居民T2DM发病风险为饮食均衡居民的2.46倍(HR=2.46,95%CI=1.94～3.13)。结论饮食偏好以荤食为主可能增加农村社区居民T2DM的发病风险,今后在T2DM的防治中应加以重视。     

家族史和肥胖交互作用对糖尿病前期人群糖尿病发病的影响

  目的  探讨糖尿病家族史、肥胖及其交互作用对糖尿病前期人群糖尿病发病的影响。  方法  基于金昌队列平台,采用前瞻性队列研究,计算糖尿病家族史、体重指数（body mass index,BMI）、腰围身高比（waist-to-height ratio,WHtR）及不同组合下糖尿病的累积发病率。采用Cox比例风险模型,分析家族史、BMI、WHtR对糖尿病发病的独立作用和联合作用。运用相乘模型分析家族史与BMI/WHtR的交互作用。  结果  本研究共纳入糖尿病前期人群5 495例,平均随访2.2年后,糖尿病累积发病率为15.69%,其中有家族史组发病率（18.31%）高于无家族史组（15.26%）（χ2=4.664,P=0.031）,随着BMI/WHtR水平增加,发病率呈上升趋势（χ2=91.727,P < 0.001;χ2=73.334,P < 0.001）。调整混杂因素后,当糖尿病家族史和肥胖（BMI ≥ 28 kg/m2或中心型肥胖）同时存在时,糖尿病发病风险增加（HR=4.401,95% CI:3.026~6.401;HR=2.565,95% CI:1.989~3.307）,且均存在正向相乘交互作用。当家族史/BMI ≥ 28 kg/m2/中心型肥胖三个因素叠加,糖尿病发病风险达到最高（HR=4.977,95% CI:3.351~7.392）。  结论  糖尿病家族史与肥胖相互叠加增加糖尿病前期人群糖尿病的发病风险,但两者的独立效应同样不容忽视。     

静息心率与心血管病高危的关系

  目的   探讨江苏省居民静息心率（resting heart rate,RHR）与心血管病高危风险的关系,为心血管病防治提供科学依据。   方法   2015―2018年在江苏省6个项目点进行以社区人群为基础的心血管病高危人群筛查,共有95 210名初筛对象纳入本次研究,依据RHR测量值将初筛对象分为RHR < 68.5次/min、68.5~次/min、74~次/min、81~次/min和>90次/min共5组,采用非条件Logistic回归分析模型分析RHR与心血管病高危风险的关系。   结果   心血管病高危人群检出率为25.10%（23 897/95 348）。与RHR≤68.5次/min组相比,68.5~次/min组（OR=0.90,95% CI:0.86~0.94）心血管病高危风险降低,81~次/min组（OR=1.11,95% CI:1.06~1.17）、>90次/min组（OR=1.52,95% CI:1.43~1.61）心血管病高危风险增加。男性RHR>90次/min组心血管病高危风险的OR值为1.65,高于女性（OR=1.35）,35~45岁人群RHR>90次/min组心血管病高危风险的OR值最高,为2.03。   结论   江苏省35~75岁人群RHR过快（>90次/min）增加心血管病高危风险,男性及35~45岁人群风险更高。     

老年人静息心率过快与糖尿病发病关系的队列研究

目的 探讨老年人静息心率过快与糖尿病发病的关系.方法 对苏州市相城区60岁以上老年人进行健康体检,抽取没有糖尿病家族史、空腹血糖正常的1 874例老年人作为研究对象,连续跟踪调查2年,每年按照临床标准检测血糖等指标,1年后确诊为糖尿病不再追踪,非糖尿病老年人继续跟踪调查1年,2年后再次体检相关指标.应用SPSS 19.0软件进行单因素分析,多因素非条件Logistic回归分析糖尿病发病与静息心率的关系.结果 单因素研究中,不同静息心率组、血压组及体质指数组2年后糖尿病发病率差异有统计学意义.调整可能的混杂因素后的非条件Logistic回归显示,静息心率过快老年人2年后糖尿病发病风险为静息心率正常人的1.815倍,P＜0.01,差异有统计学意义.结论 降低老年人静息心率过快的患病率,或可以减少老年人糖尿病的发病风险.     

糖尿病家族史和肥胖对高血糖发病的联合作用

目的 探讨南京社区居民糖尿病家族史和肥胖对高血糖发病的联合作用。方法 采用多阶段分层整群抽样的方法,对30岁及以上的居民进行调查。符合条件的调查对象共3 376名,剔除已确诊的高血糖患者（476例）,最终纳入2 900例非高血糖的人群作为基线样本,3年后开展随访调查。应用Cox回归模型分析糖尿病家族史与肥胖的联合作用对高血糖发生的风险比。结果 3年后共随访2 093名调查对象,随访率为72.2%。高血糖3年累计发病率为7.5%;无糖尿病家族史/无肥胖组累计发病率最低（6.4%）,有糖尿病家族史/肥胖组最高（13.3%）。多因素Cox回归分析显示,与无糖尿病家族史/无肥胖组相比,有糖尿病家族史/无肥胖组、有糖尿病家族史/肥胖组发生高血糖是其1.63倍（HR=1.63,95%CI:1.02~2.60,P=0.042）和2.37倍（HR=2.37,95%CI:1.36~4.13,P=0.002）;有糖尿病家族史/有肥胖组发生高血糖风险最高。结论 糖尿病家族史和肥胖共存会增加高血糖发病风险,提示具有糖尿病家族史的人群控制体重有利于高血糖的预防。     

Usual Intake Distribution of Vitamins and Prevalence of Inadequacy in a Large Sample of Iranian At-Risk Population: Application of NCI Method

Objective: This study provides an assessment of usual intake distribution of vitamins and estimating prevalence of inadequacy and excess among a large representative sample of middle-aged and elderly people in central regions of Iran.

Design: A cross-sectional study that is a second follow-up to the Isfahan Cohort Study (ICS).

Setting: The study setting included urban and rural areas from 3 cities (Isfahan, Najafabad, and Arak) in central regions of Iran.

Subjects: Subjects included 1922 people aged 40 years and older, with a mean age of 55.9 ± 10.6; 50.4% were male and the majority (79.3%) were urban.

Measures and Analysis: Dietary intakes were collected using a 24-hour recall and 2 food records. Distribution of vitamins intake was estimated using traditional and national cancer institute (NCI) methods. The proportion of subjects at risk of vitamin intake inadequacy or excess was estimated using the estimated average requirement (EAR) cut-point method and the tolerable upper intake levels (UL) index.

Results: There were differences between values obtained from traditional and NCI methods, particularly in the lower and upper percentiles of the intake distribution. High prevalence of inadequacies for vitamins A, D, E, B₂, B₃ (especially among females), and B₉ was observed. Significant gender differences were found in terms of inadequate intakes for vitamins A, B₁, B₂, B₃, B₆, B₉, B₁₂, and C (p < 0.05).

Conclusion: Imbalanced vitamin intake was observed in the middle-aged and elderly Iranian population. Nutritional interventions particularly through population-based educational programs in order to improve diet variety and consume nutrient supplements may be necessary.     

Impact of food pantry donations on diet of a low-income population

Objective: This cross-sectional study assessed the effect of food donations on total nutrient intake of clients of a food pantry in Central Texas.

Methods: Nutrient intakes of total, base and food donation diets were estimated for 112 food pantry recipients using specific questionnaires; and then compared to the dietary reference intakes (DRI) and 2015–2020?US Dietary Guidelines.

Results: Food donations accounted for more than half of the client’s daily intake of energy, carbohydrates, vitamin B₆, phosphorus, copper and selenium. Yet, daily total intake remained less than their DRIs for carbohydrates, poly-unsaturated fats, dietary fiber, fat soluble vitamins and vitamin C, and was even lower for calcium, magnesium and potassium. Total food intake of clients almost met the US Dietary Guidelines for refined grains, fruits, vegetables, and meat; however, the amount of whole grains and dairy was inadequate.

Conclusions: Supplemental foods offered at food pantries are an important resource for improving nutrient intake of low-income populations.     

Effects of dog-assisted intervention on quality of life in nursing home residents with dementia

Background: People with dementia often have a poor quality of life. Therefore, methods that can improve their life situation must be identified. One promising method is dog-assisted intervention.

Aim: This study aimed to investigate the effects of dog-assisted intervention on quality of life in nursing home residents with dementia.

Materials and methods: A one-group, pretest post-test study design was used. Quality of life was measured using the QUALID in 59 nursing home residents prior to and after a dog-assisted intervention. Non-parametric tests were used to analyze the data, and effect sizes were calculated.

Results: The participants’ total scores improved significantly between baseline and post-test 1 (p?=?<?0.001) and worsened significantly at post-test 2 (p?=?0.025). The largest effect size was found for the item ‘Verbalization suggests discomfort’ (p?=?0.001).

Conclusion: The results indicate that dog-assisted interventions can have positive effects on quality of life in nursing home residents with moderate to severe dementia.

Significance: The results contribute to a growing knowledge base about non-pharmacological methods that can be used in dementia care. Occupational therapists should consider dog-assisted interventions when planning activities that can reduce the illness burden and improve the quality of life for people with dementia.     

Association of Luteinizing hormone and LH receptor gene polymorphism with susceptibility of Polycystic ovary syndrome

ABSTRACT

Altered folliculogenesis and reproductive anomalies in polycystic ovary syndrome (PCOS) suggest that variations of genes involved in folliculogenesis might influence etiopathogenesis of this syndrome. The objective of this study was to assess the association of LHβ (rs1056917) and lutropin receptor (LHR) (rs61996318) polymorphism with polycystic ovarian syndrome and to interrelate the levels of luteinizing hormone (LH) with severity of clinical manifestations of PCOS. Three hundred women of reproductive age were enrolled in this retrospective case-control study. Rotterdam Criteria was used to diagnose PCOS patients. Nucleotide mutations of LH and LHR gene was analyzed using polymerase chain reaction-restriction fragment length polymorphism. High LH levels were found in 88% of PCOS patients. LHβ TC and CC genotypes were significantly associated with PCOS risk (OR [odds ratio] 13.95, CI [confidence interval] 6.30–30.86, p < 0.0001 and OR 3.31, CI 1.30–8.41, p = 0.01). The frequency of the C allele was 0.31 in PCOS and 0.02 in controls (OR 18.80, CI 8.54–41.37, p < 0.0001). LHR CA and AA genotype conferred a significant risk in development of PCOS (OR 5.07, CI 2.50–10.31, p < 0.0001). The frequency of the A allele was 0.51 in PCOS and 0.03 in controls (OR 26.62, CI 13.99–50.65, p < 0.0001). The results show an association between polymorphism of LHβ, LHR and PCOS, indicating that variants of these genes may affect the metabolic pathways involved in this syndrome. Majority of the affected women were found to have elevated LH levels. This study sheds new light in the diagnosis, treatment and management of PCOS syndrome.

Abbreviations: AUC: area under curve; BMI: body mass index; C: cholesterol; CI: confidence interval; DBP: diastolic blood pressure; DHEAS: dehydroepiandrosterone sulfate; FG: Ferriman–Gallway; FSH: follicle stimulating hormone; GHQ: general health questionnaire; HA: hyperandrogenism; HDL-C: high-density lipoprotein cholesterol; HOMA-IR: homeostatic model assessment for insulin resistance; HWR: hip waist ratio; LDL-C: low-density lipoprotein cholesterol; LH: luteinizing hormone; LH: luteinizing hormone; LHR: lutropin receptor; O: oligomenorrhea; OR: odds ratio; PCO: polycystic ovaries; PCO: polycystic ovary; PCOS: polycystic ovary syndrome; PCR: polymerase chain reaction; ROC: receiver operating curve; SBP: systolic blood pressure; SE: standard error of coefficient; SNP: single nucleotide polymorphism; TG: triglycerides; TSH: thyroid stimulating hormone; VD: vitamin D     

Child and parent perspectives of life quality of children with physical impairments compared with non-disabled peers

Background: Life quality has become a widely used concept within rehabilitation and occupational therapy practice.

Aim: This study explored child and parent perspectives of life quality of children with physical impairments compared with a group of non-disabled children.

Method: Data were collected with the Icelandic self- and proxy-reported versions of the KIDSCREEN-27. For children with physical impairments, reports from 34 children and 40 parents were included in the analyses, and in control group reports from 429 children and 450 parents were included.

Results: Children with physical impairments evaluated their life quality within the average range on four out of five life quality dimensions. The lowest scores were within the physical well-being dimension. Self-reported scores of children with physical impairments were higher than those of their parents on all dimensions except autonomy and parent relations. Thus, the parents considered more environmental and personal factors to negatively influence their child’s life quality than children did themselves.

Conclusion: Children with physical impairments experience their life quality similarly to non-disabled children.

Significance: Focus on life quality can help occupational therapists to identify what circumstances positively or negatively influence client well-being and to focus more on contextual factors that contribute to disablement.     

Application of metabolomics to preeclampsia diagnosis

Preeclampsia is a multifactorial disorder defined by hypertension and increased urinary protein excretion during pregnancy. It is a significant cause of maternal and neonatal deaths worldwide. Despite various research efforts to clarify pathogenies of preeclampsia and predict this disease before beginning of symptoms, the pathogenesis of preeclampsia is unclear. Early prediction and diagnosis of women at risk of preeclampsia has not markedly improved. Therefore, the objective of this study was to perform a review on metabolomic articles assessing predictive and diagnostic biomarkers of preeclampsia. Four electronic databases including PubMed/Medline, Web of Science, Sciencedirect, and Scopus were searched to identify studies of preeclampsia in humans using metabolomics from inception to March 2018. Twenty-one articles in a variety of biological specimens and analytical platforms were included in the present review. Metabolite profiles may assist in the diagnosis of preeclampsia and discrimination of its subtypes. Lipids and their related metabolites were the most generally detected metabolites. Although metabolomic biomarkers of preeclampsia are not routinely used, this review suggests that metabolomics has the potential to be developed into a clinical tool for preeclampsia diagnosis and could contribute to an improved understanding of disease mechanisms.

Abbreviations: PE: preeclampsia; sFlt-1: soluble FMS-like tyrosine kinase-1; PlGF: placental growth factor; GC–MS: gas chromatography–mass spectrometry; LC–MS: liquid chromatography–mass spectrometry; NMR: nuclear magnetic resonance spectroscopy; HMDB: human metabolome database; RCT: randomized control trial; e-PE: early-onset PE; l-PE: late-onset PE; PLS-DA: partial least-squares-discriminant analysis; CRL: crown-rump length; UtPI: uterine artery Doppler pulsatility index; BMI: body mass index; MAP: mean arterial pressure; OS: oxidative stress; PAPPA: plasma protein A; FTIR: Fourier transform infrared; BCAA: branched chain amino acids; Arg: arginine; NO: nitric oxide.     

Characterization of indoor settled dust and investigation of indoor air quality in different micro-environments

Present study reports the characterization results of settled dust particles in different indoor micro-environments of an academic institution in India. Field emission scanning electron microscope analysis of indoor dust revealed the presence of mineral particles, fly ash, and soot particles of different morphologies. Energy-dispersive X-ray spectroscopy analysis of indoor dust indicated that crystal particles are comprised of elements such as C, O, Na, Mg, Al, Si, S, Cl, K, Ca, Fe, and Ti. These elements accounted for more than 99% of the samples. The average content of O (42.7%) and C (18.9%) in the dust particles was found to be higher than their natural abundances. The concentrations of PM₁₀, PM_2.5, and PM₁ were observed in the range of 88–58, 37–33, 23–29 µg/m³, respectively. Except temperature, other parameters such as volatile organic carbon, carbon dioxide concentration, and relative humidity were found to be within comfort limits of American Society of Heating, Refrigerating, and Air-Conditioning Engineers.

Abbreviations: ASHRAE: American Society of Heating, Refrigerating, and Air-Conditioning Engineers; CO₂: carbon dioxide; COPD: chronic obstructive pulmonary disease; EDX: energy-dispersive X-ray; FESEM: field emission scanning electron microscope; FTIR: Fourier transform infrared spectroscopy; IAP: indoor air pollution; IAQ: indoor air quality; HAP: household air pollution; OAP: outdoor air pollution; PM: particulate matter; VOC: volatile organic carbon; WHO: World Health Organization     

Performance, proficiency, and value of the dietetics professional: an update

The major focus of the plan is the possible professional development activities provided by the Association and used by members. Ultimately, the Plan offers the Association and members concise and doable tactics for addressing the number one member concern of compensation and benefits.All organizational units of ADA will examine opportunities for developing tools, gathering data, and exploring tactics to build on current programs that will close the gap between performance, proficiency, and value for the profession. Likewise, members are encouraged to use ADA resources, such as the PPV Plan’s tactics to build their professional development plans. Members should also consider investigating outside services or employer resources that compliment the opportunities that ADA offers.The following Professional Development Sessions are planned for the 2003 Food and Nutrition Conference & Expo in San Antonio (October 25–28).Saturday, October 25, 20035:00–7:00 pm—Live Up to Your Dreams: Opening Session Ross Keynote Address, Dot Richardson, MDSunday, October 26, 20038:30–10:00 am—Customer Satisfaction: Creating Demands for our Services8:30–10:00 am—ADA Forum for Students and New Professionals10:30–12:00 pm—Managing your Professional Development Portfolio1:30–3:00 pm—Adding Value Through Differences: Anyone Can Become a Leader3:30–5:00 pm—The Enterprising Dietitian: Building a Diabetes Business with RN Partners3:30–5:00 pm—Business and Communications: Career Opportunities for DietitiansMonday, October 27, 20038:00–9:30 am—Positive Attitude: The Key to Success in Nutrition and Dietetics12:30–1;30 pm—ADA’s Reality Show: Real Stories, Real Members, Real Prizes2:00–3:30 pm—Communications Seminar: How to Manage your Mouth4:00–5:30 pm—You can Have it all: Leadership and Life BalanceTuesday, October 28, 20038:00–9:30 am—Gain-Gain: A New Look at Salary Negotiation10:00 am–11:00 am—Negotiation Skills for Young Professionals10:00–11:00 am—Member Forum: How to Get Involved, ADA Needs You     

The clinical application of single-sperm-based SNP haplotyping for PGD of osteogenesis imperfecta

Osteogenesis imperfecta (OI) is a genetically heterogeneous disorder, presenting either autosomal dominant, autosomal recessive or X-linked inheritance patterns. The majority of OI cases are autosomal dominant and are caused by heterozygous mutations in either the COL1A1 or COL1A2 gene. In these dominant disorders, allele dropout (ADO) can lead to misdiagnosis in preimplantation genetic diagnosis (PGD). Polymorphic markers linked to the mutated genes have been used to establish haplotypes for identifying ADO and ensuring the accuracy of PGD. However, the haplotype of male patients cannot be determined without data from affected relatives. Here, we developed a method for single-sperm-based single-nucleotide polymorphism (SNP) haplotyping via next-generation sequencing (NGS) for the PGD of OI. After NGS, 10 informative polymorphic SNP markers located upstream and downstream of the COL1A1 gene and its pathogenic mutation site were linked to individual alleles in a single sperm from an affected male. After haplotyping, a normal blastocyst was transferred to the uterus for a subsequent frozen embryo transfer cycle. The accuracy of PGD was confirmed by amniocentesis at 19 weeks of gestation. A healthy infant weighing 4,250 g was born via vaginal delivery at the 40th week of gestation. Single-sperm-based SNP haplotyping can be applied for PGD of any monogenic disorders or de novo mutations in males in whom the haplotype of paternal mutations cannot be determined due to a lack of affected relatives.

Abbreviations: ADO: allele dropout; DI: dentinogenesis imperfect; ESHRE: European Society of Human Reproduction and Embryology; FET: frozen embryo transfer; gDNA: genomic DNA; ICSI: intracytoplasmic sperm injection; IVF: in vitro fertilization; MDA: multiple displacement amplification; NGS: next-generation sequencing; OI: osteogenesis imperfect; PBS: phosphate buffer saline; PCR: polymerase chain reaction; PGD: preimplantation genetic diagnosis; SNP: single-nucleotide polymorphism; STR: short tandem repeat; TE: trophectoderm; WGA: whole-genome amplification