Method to estimate genotype probabilities at individual loci in farm livestock

Summary A Bayesian method to estimate genotype probabilities at a single locus using information on the individual and all its relatives and their mates has been developed. The method uses data over several generations, can deal with large numbers of individuals in large livestock families and allows for missing information. It can be extended to multiple alleles and can be used for autosomal or sex-linked loci. The allele frequencies and the form of expression (dominance, penetrance) must be specified. An algorithm using the method and involving an iterative procedure has been developed to calculate the genotype probabilities for practical use in livestock breeding. The method and algorithm were used to determine the accuracy of estimating genotype probabilities of sires for a female sex-limited trait, such as genetic variants of milk proteins. Data were similated and genotype probabilities estimated for 100 sires (20 replicates) with 3, 6 and 12 female offspring per sire, for different population frequencies, for additive and dominance gene action and for variable genotypic expression. Such simulation is useful in the design of testing systems for the use of information on specific genetic loci in selection.Prepared during a leave at Centre for Genetic Improvement of Livestock, Guelph, Canada     

二十四式简化太极拳联合呼吸功能训练对中老年COPD患者肺功能、运动耐力及心理状态的影响

摘要 目的：探讨二十四式简化太极拳联合呼吸功能训练对中老年慢性阻塞性肺疾病（COPD）患者肺功能、运动耐力及心理状态的影响。方法：选取2019年4月~2020年8月期间我院收治的中老年COPD患者81例,按照信封抽签法分为对照组（40例,给予呼吸功能训练干预）和观察组（41例,给予二十四式简化太极拳联合呼吸功能训练干预）,均干预6个月。对比两组干预前、干预6个月后的肺功能、运动耐力、心理状态及生活质量。结果：两组干预6个月后用力肺活量（FVC）、1 秒用力呼气容积( FEV1)、FEV1/FVC升高,且观察组高于对照组（P<0.05）。两组干预6个月后呼吸症状、疾病影响、活动受限评分降低,且观察组低于对照组（P<0.05）。两组干预6个月后6 min步行试验（6MWT）距离延长,且观察组长于对照组（P<0.05）。两组干预6个月后人际关系、抑郁、偏执、敌对、焦虑、恐惧评分降低,且观察组低于对照组（P<0.05）。结论：中老年COPD患者经二十四式简化太极拳联合呼吸功能训练干预后,肺功能、运动耐力、生活质量及心理状态均得到显著改善,提示该康复训练方案可用于辅助中老年COPD患者的治疗。     

冷冻消融术与射频消融术对心房颤动患者心理状态、血小板功能以及预后的影响

摘要 目的：探讨冷冻消融术（CBA）与射频消融术（RFCA）对心房颤动患者心理状态、血小板功能以及预后的影响。方法：选择2018年1月至2019年10月在我院住院拟行消融手术的房颤患者192例,随机分为A组（n=96,RFCA治疗）和B组（n=96,CBA治疗）,对比两组患者围术期指标、心理状态、血小板功能以及预后情况。结果：术后3个月,两组焦虑自评量表（SAS）、抑郁自评量表（SDS）评分均较术前降低,且B组低于A组（P<0.05）。两组PVI成功率比较无差异（P>0.05）,B组冷冻最低温度低于A组,手术时间、消融时间短于A组（P<0.05）。B组术前、术后1 d血小板聚集率、血小板α颗粒膜蛋白（GMP-140）、血小板膜CD63、CD62P比较差异无统计学意义（P>0.05）,术后1 d,A组血小板聚集率、GMP-140、CD63、CD62P均高于术前及B组（P<0.05）。两组并发症总发生率比较无差异（P>0.05）。B组患者疾病无进展生存率为 75.00%（72/96）,高于A组的30.21%（29/96）（P<0.05）。结论：与RFCA相比,CBA治疗房颤患者,在获得相当治疗效果的同时,心理状态改善效果更佳,预后更好,同时对血小板功能影响轻微。     

生殖道感染类型分布及其对女性血清炎症因子、性功能和心理状态的影响

摘要 目的：了解女性生殖道感染类型分布情况,分析生殖道感染对女性血清炎症因子、性功能和心理状态的影响。方法：选择2016年5月～2018年8月到我院就诊的生殖道感染女性患者60例（研究组）,另选取同期到我院进行健康体检的健康女性60例（对照组）。统计研究组患者生殖道感染的感染类型,并比较两组血清炎症因子、性功能和心理状态情况。结果：60例生殖道感染患者感染类型以宫颈炎（33.33%）、非特异性阴道炎（26.67%）居多。研究组血清肿瘤坏死因子-α（TNF-α）、白细胞介素-6（IL-6）以及白细胞介素-8（IL-8）水平分别为（144.38±31.85）ng/mL、（73.85±15.73）ng/mL、（218.64±43.28）ng/mL,均高于对照组的（99.01±22.25）ng/mL、（40.27±10.52）ng/mL、（113.82±26.08）ng/mL,差异有统计学意义（均P＜0.05）。研究组性欲、高潮频数、性满意度、性焦虑、配偶高潮频数、配偶性满意度评分分别为（3.08±0.92）分、（4.38±1.01）分、（2.71±1.07）分、（3.66±1.30）分、（2.68±1.01）分、（2.95±1.04）分,均低于对照组的（3.84±0.51）分、（4.92±0.32）分、（3.87±0.47）分、（4.18±0.54）分、（3.82±0.38）分、（3.97±0.41）分,差异有统计学意义（均P＜0.05）。研究组健康问卷抑郁量表（PHQ-9）与广泛性焦虑评定量表（GAD-7）评分分别为（16.35±5.88）分、（13.87±3.73）分,均高于对照组的（5.15±1.76）分、（5.89±1.39）分,差异有统计学意义（均P＜0.05）。结论：女性生殖道感染以宫颈炎和非特异性阴道炎为主,生殖道感染会导致女性患者血清炎症因子水平显著升高,性功能降低,同时对患者心理状态也存在一定影响,因此,在临床工作中应予以患者及时有效的干预,从而改善患者性功能以及心理状态。     

癔球症患者食管测压结果、心理特征分析及小剂量阿米替林的干预效果研究

摘要 目的：分析患者的食管测压结果、心理特征及小剂量阿米替林的干预效果。方法：选取2017年5月~2019年5月期间上海市静安区市北医院收治的癔球症患者137例（癔球症组）,另选取同期到上海市静安区市北医院体检的健康志愿者50例（非癔球症组）,比较两组食管测压结果、癔球症症状评分量表（GETS）评分、汉密尔顿抑郁量表-17（HAMD-17）评分、汉密尔顿焦虑量表-14（HAMA-14）评分。按随机数字表法将癔球症患者分为对照组（n=68）和研究组（n=69）,对照组给予常规治疗,研究组则在对照组的基础上联合小剂量阿米替林干预。比较对照组、研究组的临床疗效、不良反应。结果：癔球症组、非癔球症组患者食管上括约肌（UES）长度、UES残余压、食管下括约肌（LES）静息压、收缩前沿速度（CFV）、远端潜伏时间（DL）组间比较差异无统计学意义（P>0.05）;癔球症组患者UES静息压高于非癔球症组（P<0.05）。癔球症组患者GETS、HAMA-14、HAMD-17评分高于非癔球症组（P<0.05）。研究组治疗后的临床总有效率为84.06%（58/69）,高于对照组的66.18%（45/68）（P<0.05）。两组不良反应发生率比较差异无统计学意义（P>0.05）。结论：相对于非癔球症患者,癔球症患者具有较高的UES静息压,癔球症症状及较为严重的不良情绪,采用小剂量阿米替林对癔球症进行干预可提高治疗有效率,用药安全性较好。     

The Crossmodal Congruency Task as a Means to Obtain an Objective Behavioral Measure in the Rubber Hand Illusion Paradigm

The rubber hand illusion (RHI) is a popular experimental paradigm. Participants view touch on an artificial rubber hand while the participants'' own hidden hand is touched. If the viewed and felt touches are given at the same time then this is sufficient to induce the compelling experience that the rubber hand is one''s own hand. The RHI can be used to investigate exactly how the brain constructs distinct body representations for one''s own body. Such representations are crucial for successful interactions with the external world. To obtain a subjective measure of the RHI, researchers typically ask participants to rate statements such as "I felt as if the rubber hand were my hand". Here we demonstrate how the crossmodal congruency task can be used to obtain an objective behavioral measure within this paradigm.The variant of the crossmodal congruency task we employ involves the presentation of tactile targets and visual distractors. Targets and distractors are spatially congruent (i.e. same finger) on some trials and incongruent (i.e. different finger) on others. The difference in performance between incongruent and congruent trials - the crossmodal congruency effect (CCE) - indexes multisensory interactions. Importantly, the CCE is modulated both by viewing a hand as well as the synchrony of viewed and felt touch which are both crucial factors for the RHI.The use of the crossmodal congruency task within the RHI paradigm has several advantages. It is a simple behavioral measure which can be repeated many times and which can be obtained during the illusion while participants view the artificial hand. Furthermore, this measure is not susceptible to observer and experimenter biases. The combination of the RHI paradigm with the crossmodal congruency task allows in particular for the investigation of multisensory processes which are critical for modulations of body representations as in the RHI.     

Incidence and predictors of phantom shocks in implantable cardioverter defibrillator recipients

Background

Implantable cardioverter defibrillators (ICDs) are designed to deliver shocks or antitachycardia pacing (ATP) in the event of ventricular arrhythmias. During follow-up, some ICD recipients experience the sensation of ICD discharge in the absence of an actual discharge (phantom shock). The aim of this study was to evaluate the incidence and predictors of phantom shocks in ICD recipients.

Methods

Medical records of 629 consecutive patients with ischaemic or dilated cardiomyopathy and prior ICD implantation were studied.

Results

With a median follow-up of 35 months, phantom shocks were reported by 5.1 % of ICD recipients (5.7 % in the primary prevention group and 3.7 % for the secondary prevention group; p=NS). In the combined group of primary and secondary prevention, there were no significant predictors of the occurrence of phantom shocks. However, in the primary prevention group, phantom shocks were related to a history of atrial fibrillation (p=0.03) and NYHA class <III (p=0.05). In the secondary prevention group, there were no significant predictors for phantom shocks.

Conclusion

Phantom shocks occur in approximately 5 % of all ICD recipients. In primary prevention patients, a relation with a history of atrial fibrillation and NYHA class <III were significant predictors for the occurrence of phantom shocks. In the secondary prevention patients, no significant predictors were found.     

Neurologically normal development of a patient with severe methionine adenosyltransferase I/III deficiency after continuing dietary methionine restriction

Background

There is not much information on established standard therapy for patients with severe methionine adenosyltransferase (MAT) I/III deficiency.

Case presentation

We report a boy with MAT I/III deficiency, in whom plasma methionine and total homocysteine, and urinary homocystine were elevated. Molecular genetic studies showed him to have novel compound heterozygous mutations of the MAT1A gene: c.191T>A (p.M64K) and c.589delC (p.P197LfsX26). A low methionine milk diet was started at 31 days of age, and during continuing dietary methionine restriction plasma methionine levels have been maintained at less than 750 μmol/L. He is now 5 years old, and has had entirely normal physical growth and psychomotor development.

Conclusions

Although some severely MAT I/III deficient patients have developed neurologic abnormalities, we report here the case of a boy who has remained neurologically and otherwise normal for 5 years during methionine restriction, suggesting that perhaps such management, started in early infancy, may help prevent neurological complications.     

Morningness: Protective Factor for Sleep-Related and Emotional Problems in Childhood and Adolescence?

The relationship between morningness/eveningness, sleep, and psychological problems is well documented in adults as well as in adolescents. However, research on the circadian orientation and its concomitants in younger children is scarce. The authors investigated the distribution of morningness/eveningness and its connection to sleeping and psychological problems in 91 children and 151 adolescents in Austria. The authors found that morning (M) types had less sleep-related and psychological problems than intermediate (I) and evening (E) types, respectively. Among children, M-types suffered less from daytime sleepiness (females: χ²₍₂₎?=?8.1, p?=?.017; males: χ²₍₂₎?=?14.8, p?=?.001). Among adolescents, M-types showed fewer sleep-wake problems (females: χ²₍₂₎?=?17.5, p?<?.001; males: χ²₍₂₎?=?19.8, p?<?.001), and female M-types showed less externalizing (χ²₍₂₎?=?8.7, p?=?.013) as well as internalizing problem behavior (χ²₍₂₎?=?9.0, p?=?.011). In conclusion, these findings indicate that morningness may act as a protective factor against the development of sleep-related problems in childhood and sleep-related and psychological problems in adolescence, especially in females. (Author correspondence: gloriagelbmann@gmx.at)