Incest diagnosis by comparison of alleles of mother and offspring at highly heterozygous loci

BACKGROUND: Methods that detect a child's homozygosity by examination of allelic products are insensitive for diagnosing incest because, at a given locus, a homozygous state is expected with a frequency of only 0.25 when parents are first-degree relatives. Furthermore, these methods are not specific if the population contains many homozygous individuals or silent alleles that cause apparent homozygosity. STUDY DESIGN AND METHODS: Use of highly heterozygous loci improves specificity, but not sensitivity. Sensitivity may be increased by observing for two kinds of mother-offspring similarities: an offspring of incest tends to be homozygous or heterozygous-identical with respect to its mother's phenotype. At each locus, two conditional probabilities may be calculated for a genetic observation, using allele frequencies expected under a state of incestuous mating versus mating within a specified population. The conditional probabilities at each locus are compared in a likelihood ratio to express a relative probability of incest. RESULTS: In a case of known sibling incest, three likelihood ratios were derived from variable number of tandem repeat phenotypes at five loci. When only offspring homozygosity was observed, the likelihood ratio was 75.3:1. When both homozygous- and heterozygous- identical phenotype similarities of offspring and mother were noted, the likelihood ratio was 130.4:1. When maternal obligatory alleles of the offspring were considered, the likelihood ratio was 262.4:1. CONCLUSION: Comparison of maternal and offspring phenotypes at highly heterozygous loci increases both sensitivity and specificity of genetic tests in cases of suspected incest.     

Physiology of freezing of gait

Freezing of gait (FOG) is a common and debilitating, but largely mysterious, symptom of Parkinson disease. In this review, we will discuss the cerebral substrate of FOG focusing on brain physiology and animal models. Walking is a combination of automatic movement processes, afferent information processing, and intentional adjustments. Thus, normal gait requires a delicate balance between various interacting neuronal systems. To further understand gait control and specifically FOG, we will discuss the basic physiology of gait, animal models of gait disturbance including FOG, alternative etiologies of FOG, and functional magnetic resonance studies investigating FOG. The outcomes of these studies point to a dynamic network of cortical areas such as the supplementary motor area, as well as subcortical areas such as the striatum and the mesencephalic locomotor region including the pedunculopontine nucleus (PPN). Additionally, we will review PPN (area) stimulation as a possible treatment for FOG, and ponder whether PPN stimulation truly is the right step forward. Ann Neurol 2016;80:644–659     

准确把握新时代我国公共卫生体系建设的概念及内涵

党的二十大报告强调人才是第一资源,并对全面推进健康中国建设、健全公共卫生体系提出了明确要求。“健康中国”战略提出实现“以健康为中心”,加强疾病预防和健康促进,使医疗和预防有效融合。群医学是运用、融合当代医学及相关学科的知识、技术、艺术和学术,作为公共卫生的医学基础,实现人群整体与长远健康效益最大化的一门医学学科。群医学人才队伍建设符合人才强国战略,群医学实践与健康中国建设趋向一致。本文分析探讨了群医学人才队伍建设的必要性与现实性,并通过总结和借鉴国外群医学人才培养的相关经验与实践,提出了我国群医学人才队伍建设的思考。     

医用壳聚糖创面修复膜凝胶在面部外伤患者中的应用效果

目的 分析医用壳聚糖创面修复膜凝胶在面部外伤患者临床治疗中的应用效果。方法 选择2020年 1月-2022年12月我院收治的50例面部外伤患者为研究对象，采用随机数字表法分为对照组和试验组，每组 25例。对照组给予面部伤口常规处理，试验组在对照组基础上给予医用壳聚糖创面修复膜凝胶，比较两组 面部伤口愈合情况、临床疗效、面部伤口细菌情况。结果 试验组面部伤口愈合率为100.00%，高于对照组 的84.00%，差异有统计学意义（P＜0.05）；试验组治疗总有效率为100.00%，高于对照组的84.00%，差异有 统计学意义（P＜0.05）；试验组治疗第3、5天伤口细菌数量＜1 cfu/cm2占比高于对照组，1 cfu/cm2＜伤口 细菌数量＜10 cfu/cm2占比低于对照组，差异有统计学意义（P ＜0.05）。结论 医用壳聚糖创面修复膜凝胶 在面部外伤患者中的应用效果确切，能够有效促进面部伤口愈合，抑制细菌生长，避免伤口感染、开裂迹 象，值得临床应用。     

AsC不同中医体质人群“伏邪”之探析

无症状慢性乙肝病毒携带者(AsC)在临床上没有明显的症状和体征,然其在感染乙型肝炎病毒(HBV)后患者可长期无症状携带,并伴随不同程度的肝损伤.因此从“伏邪”学说出发对不同体质AsC人群的邪气藏伏和发病机理进行理论探讨,对临床预防AsC人群发病具有理论指导意义.