全髋关节置换治疗成人髋关节发育不良继发骨关节炎

目的探讨全髋关节置换治疗成人髋关节发育不良继发骨关节炎的手术方法。方法 2004年1月至2009年7月,对26例（26髋）髋关节发育不良继发骨关节炎患者行全髋关节置换术。其中女25例,男1例,平均年龄48.7岁。按Crowe分型：Ⅰ型8例,Ⅱ型13例,Ⅲ型3例,Ⅳ型2例。采用Harris评分和X线检查评价疗效。结果随访6～72个月,平均36个月。Harris评分：术前平均49.6分（28～65分）,术后平均87.4分（72～92分）。术后无坐骨神经麻痹、下肢深静脉栓塞、切口感染和人工关节脱位等并发症,X线显示假体位置良好,所有病例髋臼均为真臼重建,未见无菌性松动和假体下沉等征象。结论全髋关节置换是治疗髋关节发育不良继发骨关节炎的有效方法。     

监狱服刑人员情绪管理团体辅导研究

目的探讨团体辅导对监狱服刑人员情绪管理的干预效果。方法以北京市某监狱12名服刑人员作为实验组，12名同质服刑人员作为控制组，对其进行团体辅导干预。在团体辅导前后施测SCL-90和正性情感、负性情感、情感平衡量表。结果团体辅导前实验组与控制组在SCL-90量表各纬度和正性情感、负性情感、情感平衡量表上得分均无显著差异，在辅导结束后，实验纽SCL-90量表躯体化和抑郁2纬度得分显著低于控制组（P〈0．05）；实验组负．性情感得分显著低于控制组（P〈0．05），实验组情感平衡得分显著高于控制组（P〈0．05）。结论团体辅导对监狱服刑人员情绪管理有明显的干预效果。     

Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders

PurposeMissense variants clustering in the BTB domain region of RHOBTB2 cause a developmental and epileptic encephalopathy with early-onset seizures and severe intellectual disability.MethodsBy international collaboration, we assembled individuals with pathogenic RHOBTB2 variants and a variable spectrum of neurodevelopmental disorders. By western blotting, we investigated the consequences of missense variants in vitro.ResultsIn accordance with previous observations, de novo heterozygous missense variants in the BTB domain region led to a severe developmental and epileptic encephalopathy in 16 individuals. Now, we also identified de novo missense variants in the GTPase domain in 6 individuals with apparently more variable neurodevelopmental phenotypes with or without epilepsy. In contrast to variants in the BTB domain region, variants in the GTPase domain do not impair proteasomal degradation of RHOBTB2 in vitro, indicating different functional consequences. Furthermore, we observed biallelic splice-site and truncating variants in 9 families with variable neurodevelopmental phenotypes, indicating that complete loss of RHOBTB2 is pathogenic as well.ConclusionBy identifying genotype-phenotype correlations regarding location and consequences of de novo missense variants in RHOBTB2 and by identifying biallelic truncating variants, we further delineate and expand the molecular and clinical spectrum of RHOBTB2-related phenotypes, including both autosomal dominant and recessive neurodevelopmental disorders.     

Polystyrene nanoplastics (20 nm) are able to bioaccumulate and cause oxidative DNA damages in the brain tissue of zebrafish embryo (Danio rerio)

Nano-sized plastic particles formed from both daily use plastics and its debris have become a potential health and environmental problem due to features such as transportation through food webs and maternal transfer. Although many studies on the toxicity of plastics exist more detailed and molecular studies are needed to evaluate and review the effects of plastics especially in nano-size range. For this purpose, we have microinjected polystyrene nanoplastics (PNP) (20 nm) to the zebrafish embryo, which is one of the best model organisms for developmental toxicity studies, to simulate intake with food or maternal. Survival, hatching and malformations evaluated during the experimental period (120 h). Moreover, we have aimed to put forth the presence of reactive oxygen species (ROS) and apoptosis signalling accumulation in the body in addition to bioaccumulation of PNP and immunochemical toxicity (8-OHdG) on the brain of zebrafish larvae at the 120th hour. According to results, it has been demonstrated that 20 nm diameter PNP can reach the brain and bioaccumulate there, moreover lead to oxidative DNA damage in the brain regions where it bioaccumulates. Here we have also imaged the PNP from a vertebrate brain via transmission electron microscopy (TEM) for the first time. As a result of these, it has been detected increasing mortality and prevailing abnormalities in addition to excessive ROS and apoptosis in especially the brain. As a conclusion, obtained data have suggested that precautions, on the use and contamination of the plastic product, to be taken during both pregnancy and baby care/feeding are important for the health of the baby in future.     

Children with developmental coordination disorder benefit from using vision in combination with touch information for quiet standing

In two experiments, the ability to use multisensory information (haptic information, provided by lightly touching a stationary surface, and vision) for quiet standing was examined in typically developing (TD) children, adults, and in seven-year-old children with Developmental Coordination Disorder (DCD). Four sensory conditions (no touch/no vision, with touch/no vision, no touch/with vision, and with touch/with vision) were employed. In experiment 1, we tested four-, six- and eight-year-old TD children and adults to provide a developmental landscape for performance on this task. In experiment 2, we tested a group of seven-year-old children with DCD and their age-matched TD peers. For all groups, touch robustly attenuated standing sway suggesting that children as young as four years old use touch information similarly to adults. Touch was less effective in children with DCD compared to their TD peers, especially in attenuating their sway velocity. Children with DCD, unlike their TD peers, also benefited from using vision to reduce sway. The present results suggest that children with DCD benefit from using vision in combination with touch information for standing control possibly due to their less well developed internal models of body orientation and self-motion. Internal model deficits, combined with other known deficits such as postural muscles activation timing deficits, may exacerbate the balance impairment in children with DCD.     

Developmental validation of the ANDE™ rapid DNA system with FlexPlex™ assay for arrestee and reference buccal swab processing and database searching

A developmental validation was performed to demonstrate reliability, reproducibility and robustness of the ANDE System with the FlexPlex assay, including an integrated Expert System, across a number of laboratories and buccal sample variations. Previously, the related DNAscan™/ANDE 4C Rapid DNA System using the PowerPlex^®16 assay and integrated Expert System Software received NDIS approval in March 2016. The enhanced ANDE instrument, referred to as ANDE 6C, and the accompanying 6-dye, 27-locus STR assay, referred to as FlexPlex, have been developed to be compatible with all widely used global loci, including the expanded set of the CODIS core 20 loci.Six forensic and research laboratories participated in the FlexPlex Rapid DNA developmental validation experiments, testing a total of 2045 swabs, including those obtained from 1387 unique individuals. The goal of this extensive and comprehensive validation was to thoroughly evaluate and document the ANDE System and its internal Expert System to reliably genotype reference buccal swab samples in a manner compliant with the FBI’s Quality Assurance Standards and the NDIS Operational Procedures.The ANDE System, including automated Expert System analysis, generated reproducible and concordant results for buccal swabs when testing various instruments at different laboratories by a number of different operators. When testing a number of non-human DNAs, including oral bacteria, the ANDE System and FlexPlex assay demonstrated limited cross-reactivity. Potential PCR inhibitors were evaluated as part of the validation and no inhibition was detected. Reproducible and concordant profiles were generated from buccal swab samples collected with a limit of detection appropriate for buccal swab collections from arrestees. The precision and resolution of the System met industry standards for detection of microvariants and single base resolution.The integrated Expert System appropriately demonstrated the ability to correctly pass or fail profiles for CODIS upload without human review. During this comprehensive developmental validation, the ANDE System successfully interpreted over 2000 samples tested with over 99.99% concordant alleles. The data package described herein led to the ANDE System with the FlexPlex assay receiving NDIS approval in June 2018.     

Impaired postural control in children with developmental coordination disorder is related to less efficient central as well as peripheral control

BackgroundDevelopmental coordination disorder (DCD) is a neurodevelopmental impairment that affects approximately 6% of children in primary school age. Children with DCD are characterized by impaired postural control. It has yet to be determined what effect peripheral and central neuromuscular control has on their balance control.ObjectiveThe aim of this study was to investigate the underlying mechanisms to impaired postural control in children with DCD using the rambling-trembling decomposition of the center of pressure (CoP).MethodNine children with DCD (9.0 ± 0.5 years, 7 boys, 2 girls) and 10 age- and gender-matched typically developing children (TD) with normal motor proficiency (9.1 ± 0.4 years, 7 boys and 3 girls) performed 3 × 30 s bipedal standing on a force plate in six sensory conditions following the sensory organization procedure. Sway length was measured and rambling-trembling decomposition of CoP was calculated in medio-lateral (ML) and anterior-posterior (AP) direction.ResultsBoth rambling and trembling were larger for the children with DCD in AP (p = 0.031; p = 0.050) and ML direction (p = 0.025; p = 0.007), respectively.ML rambling trajectories did not differ in any conditions with fixed support surface. In ML direction children with DCD had a lower relative contribution of rambling to total sway (p = 0.013).ConclusionThis study showed that impaired postural control in children with DCD is associated with less efficient supraspinal control represented by increased rambling, but also by reduced spinal feedback control or peripheral control manifested as increased trembling.     

Automatic classification of gait in children with early-onset ataxia or developmental coordination disorder and controls using inertial sensors

Early-Onset Ataxia (EOA) and Developmental Coordination Disorder (DCD) are two conditions that affect coordination in children. Phenotypic identification of impaired coordination plays an important role in their diagnosis. Gait is one of the tests included in rating scales that can be used to assess motor coordination.A practical problem is that the resemblance between EOA and DCD symptoms can hamper their diagnosis. In this study we employed inertial sensors and a supervised classifier to obtain an automatic classification of the condition of participants. Data from shank and waist mounted inertial measurement units were used to extract features during gait in children diagnosed with EOA or DCD and age-matched controls. We defined a set of features from the recorded signals and we obtained the optimal features for classification using a backward sequential approach. We correctly classified 80.0%, 85.7%, and 70.0% of the control, DCD and EOA children, respectively. Overall, the automatic classifier correctly classified 78.4% of the participants, which is slightly better than the phenotypic assessment of gait by two pediatric neurologists (73.0%). These results demonstrate that automatic classification employing signals from inertial sensors obtained during gait maybe used as a support tool in the differential diagnosis of EOA and DCD. Furthermore, future extension of the classifier’s test domains may help to further improve the diagnostic accuracy of pediatric coordination impairment. In this sense, this study may provide a first step towards incorporating a clinically objective and viable biomarker for identification of EOA and DCD.     

Swedish Universities Scales of Personality: Relation to Other Personality Instruments

ObjectiveTo investigate associations between Swedish universities Scales of Personality (SSP) and scales of the following personality instruments: Structured Clinical Interview for DSM-III-R axis II screening questionnaire (SCID-II screen), revised NEO personality inventory (NEO-PI-R), revised Chapman scales (Chapman) and the psychotic traits questionnaire (STQ). MethodsHealthy individuals (n=406) completed self-report personality questionnaires including SSP and at least one more personality inventory. Correlations were calculated between the 13 different SSP subscales as well as SSP’s three factors and factors and scales/subscales in SCID-II screen, NEO-PI-R, Chapman and STQ. The main factors of the various instruments were factor analysed. ICC were calculated. ResultsSSP Neuroticism factor correlated with SCID-II cluster C (r=0.71), NEO Neuroticism (r=0.80) and Chapman Social anhedonia (r=0.62). SSP Extraversion factor correlated with NEO Extraversion (r=0.63) and SSP Aggressiveness factor with NEO Agreeableness (r=-0.62). Strong correlations between SSP factors and scales and scales of the other instruments were sparse, although weaker correlations were common. ConclusionSSP is a useful investigation tool when measuring personality traits related to temperament-like features. SSP partly correlates well to especially three of the NEO-PI-R factors. The different personality inventories are not completely comparable to each other. Instead, they measure personality aspects in partly different ways.