A novel ABCB11 mutation in an Iranian girl with progressive familial intrahepatic cholestasis

Progressive familial intrahepatic cholestasis is an autosomal recessive liver disorder caused by (biallelic) mutations in the ATP8B1 of ABCB11 gene. A nine-year-old girl with cholestasis was referred for genetic counseling. She had a family history of cholestasis in two previous expired siblings. Genetic analysis of the ABCB11 gene led to the identification of a novel homozygous mutation in exon 25. The mutation 3593- A > G lead to a missense mutation at the amino acid level (His1198Arg). This mutation caused PFIC2 due to abnormal function in the bile salt export pump protein (BSEP).     

Genetic diversity,structure, and demography of Pandanus boninensis (Pandanaceae) with sea drifted seeds,endemic to the Ogasawara Islands of Japan: Comparison between young and old islands

Pandanus boninensis, endemic to the Ogasawara Islands, Japan, is distributed on both the older Bonin and younger Volcano Islands. In this study, we conducted population genetic analyses of P. boninensis on these islands to examine the population diversity and structure across old and young islands, to assess potential differences in population demography with island age, and to collect any evidence of migration between old and young islands. We found that the genetic diversity of expressed sequence tag (EST)–based microsatellite (SSR) markers, the nucleotide diversity of nuclear DNA sequences, and the haplotype diversity of chloroplast DNA on young islands were lower than those on old islands. Clustering analyses of EST‐SSR indicated that populations on old islands were strongly diverged from those on young islands. Approximate Bayesian computation analysis of EST‐SSR suggested that population expansion occurred on old islands while population reduction occurred on young islands. We also found evidence of migration among old islands (mostly from south to north), while it appears that there have been very few migration events between old and young islands. These differences could be due to the fact that young islands tend to be geographically isolated and support smaller populations that began a shorter time ago from limited founders. The P. boninensis populations on the Volcano Islands are interesting from an evolutionary perspective as they constitute a classic example of the early stages of progressive colonization on oceanic islands with small effective population sizes and low genetic diversity.     

神经肌肉关节促进训练对脑性瘫痪患儿智力及肢体功能的影响

摘要 目的：探讨神经肌肉关节促进训练对脑性瘫痪(cerebral palsy,CP,脑瘫)患儿智力及肢体功能的影响。方法：2016年12月到2018年12月选择在本院儿保科门诊就诊的脑瘫患儿134例,根据治疗方法分为观察组与对照组,各67例。对照组给予常规康复训练,观察组在对照组给予神经肌肉关节促进训练,两组康复观察3个月,记录智力及肢体功能变化情况。结果：观察组的总有效率为98.5 %,高于对照组的83.6 %(P<0.05)。两组康复后的粗大运动功能测试量表(gross motor function measure, GMFM)评分都高于康复前(P<0.05),观察组高于对照组(P<0.05)。两组康复后的适应与语言行为评分都高于康复前(P<0.05),观察组也高于对照组(P<0.05)。两组康复后的F波振幅高于康复前(P<0.05),阈值低于康复前(P<0.05),康复后观察组与对照组对比差异也都有统计学意义(P<0.05)。结论：神经肌肉关节促进训练在脑瘫患儿的应用能促进改善智力及肢体功能,重建患儿的肌电功能,从而提高治疗效果。     

Reliability and sources of variability of 3D kinematics and electromyography measurements to assess newly-acquired gait in toddlers with typical development and unilateral cerebral palsy

The aim was to 1) determine intersession and intertrial reliability and 2) assess three sources of variability (intersubject, intersession and intertrial) of lower limb kinematic and electromyographic (EMG) variables during gait in toddlers with typical development (TD) and unilateral cerebral palsy (UCP) (age <3 years, independent walking experience ≤6 months). Gait kinematics and surface EMG were recorded in 30 toddlers (19 TD and 11 UCP), during two, 3D-motion capture sessions. Standard error of measurement (SEM) between trials (gait cycles) of the same session and between sessions was calculated to assess reliability. Standard deviations (SD) between subjects, sessions and trials were calculated to estimate sources of variability. Sixty-four percent of kinematic SEM-values were acceptable (2°-5°). Frontal plane measurements were most reliable (SEM 2°-4.6°). In toddlers with UCP, EMG variables were most reliable for affected side, distal muscles. Intrinsic (intertrial and intersubject) variability was high, reflecting both motor immaturity and the high variability of toddler gait patterns. In toddlers with UCP, variability was amplified by motor impairment and delayed motor development. 3D gait analysis and surface EMG are partially reliable tools to study individual gait patterns in toddlers in clinical practice and research, although some variables must be interpreted with caution.     

A gait index may underestimate changes of gait: a comparison of the Movement Deviation Profile and the Gait Deviation Index

The ability of the Movement Deviation Profile (MDP) and Gait Deviation Index (GDI) to detect gait changes was compared in a child with cerebral palsy who underwent game training. Conventional gait analysis showed that sagittal plane angles became mirrored about normality after training. Despite considerable gait changes, the GDI showed minimal change, while the MDP detected a difference equal to a shift between 10-9 on the Functional Assessment Questionnaire scale. Responses of the GDI and MDP were examined during a synthetic transition of the patient's curves from before intervention to a state mirrored about normality. The GDI showed a symmetric response on the two opposite sides of normality but the neural network based MDP gave an asymmetric response reflecting faithfully the unequal biomechanical consequences of joint angle changes. In conclusion, the MDP can detect altered gait even if the changes are missed by the GDI.     

Dementia from the ABCD1 mutation c.1415-1416delAG in a female carrier

Objectives

Progressive dementia is a rare phenotypic feature of female X-ALD carriers. Even rarer is the additional presence of further risk factors for dementia, such as diabetes, hypothyroidism, and hepatopathy. We report a unique female X-ALD carrier presenting with severe, progressive dementia, paraspasticity, sphincteric dysfunction, and multisystem disease.

Case report

A 79 years-old female with a history of strumectomy, diabetes, hepatopathy, hypothyroidism, arterial hypertension, hiatal hernia, left retinal ablation, ovariectomy, hysterectomy, osteoporosis, bilateral hip endoprosthesis, and neurogenic bladder dysfunction developed slowly progressive cognitive decline since age of 77 years. She had been identified as a female carrier of X-ALD in 12/2010 upon a family screening. At age of 79 years she presented with severe dementia, anxiety, unsteadiness, helplessness, hypertelorism, exaggerated patella tendon reflexes, reduced Achilles tendon reflexes, club feet, contractures of the ankles, the knees, and the hips, and the inability to stay or walk. Cerebral CT showed diffuse atrophy, demyelination periventricularly, small lacunas in the basal ganglia, and small calcifications of the basal ganglia and the temporal lobe on the right side. Differential diagnoses of dementia were considered but were all excluded upon the clinical presentation, blood chemical investigations, imaging studies, and the pattern of neuropsychological deficits.

Conclusions

With progression of the disease manifesting X-ALD carriers may develop progressive severe dementia, severe paraspasticity, and sphincteric dysfunction. Female carriership of X-ALD can be a differential diagnosis of dementia.     

A rice lectin receptor‐like kinase that is involved in innate immune responses also contributes to seed germination

Seed germination and innate immunity both have significant effects on plant life spans because they control the plant's entry into the ecosystem and provide defenses against various external stresses, respectively. Much ecological evidence has shown that seeds with high vigor are generally more tolerant of various environmental stimuli in the field than those with low vigor. However, there is little genetic evidence linking germination and immunity in plants. Here, we show that the rice lectin receptor‐like kinase OslecRK contributes to both seed germination and plant innate immunity. We demonstrate that knocking down the OslecRK gene depresses the expression of α–amylase genes, reducing seed viability and thereby decreasing the rate of seed germination. Moreover, it also inhibits the expression of defense genes, and so reduces the resistance of rice plants to fungal and bacterial pathogens as well as herbivorous insects. Yeast two‐hybrid and co‐immunoprecipitation experiments revealed that OslecRK interacts with an actin‐depolymerizing factor (ADF) in vivo via its kinase domain. Moreover, the rice adf mutant exhibited a reduced seed germination rate due to the suppression of α–amylase gene expression. This mutant also exhibited depressed immune responses and reduced resistance to biotic stresses. Our results thus provide direct genetic evidence for a common physiological pathway connecting germination and immunity in plants. They also partially explain the common observation that high‐vigor seeds often perform well in the field. The dual effects of OslecRK may be indicative of progressive adaptive evolution in rice.     

有氧康复运动联合中药对脑瘫患儿血清NSE、EF-1、1,25-(OH)2-VitD3 的影响

目的:探讨有氧康复运动联合中药口服对脑瘫患儿血清NSE、EF-1、1,25-二羟维生素D3水平变化的影响及临床意义。方法:选取我院收治的脑瘫患儿80例,根据治疗方案不同分为对照组及实验组,对照组予以常规内科治疗及康复锻炼,实验组予以有氧康复联合中药口服治疗。比较各组患儿治疗前后糖化分解烯醇酶NSE、内皮素EF-1、1,25-二羟维生素D3、食欲、排便、面色、体质、淀粉酶等水平变换情况。结果:实验组NSE及EF-1水平低于对照组(P0.05),实验组1,25-二羟维生素D3及微量元素、淀粉酶、体质体征水平高于对照组,其结果均有统计学意义(P0.05)。结论:有氧康复运动联合健脾益气的中药汤药口服可降低脑瘫患儿血清NSE及EF-1间接促进神经系统恢复,且加速1.25-二羟Vit D3合成效率,促进患儿对营养物质的吸收及代谢,治疗小儿脑瘫临床疗效理想。     

血清胱抑素C、血肌酐及血尿素氮对窒息新生儿肾功能损害的临床意义

目的:探讨体外反搏联合言语训练治疗脑性瘫痪并语言发育迟缓儿童的临床疗效。方法:选择2015年12月至2017年12月在上海市儿童医院康复科普通门诊确诊的脑瘫并语言发育迟缓患儿52例,按照随机数字表法将其随机分为治疗组和对照组,每组26例。对照组仅给予言语训练治疗,治疗组给予体外反搏联合言语训练治,以4周1个疗程,两组均治疗3个疗程。治疗前后,采用中国康复研究中心汉语版儿童语言发育评定法s-s法、Gesell发育评分法评价和比较患儿言语发育商和认知发育商的变化。结果:治疗后,两组言语发育商和认知发育商均显著高于治疗前,且治疗组言语发育商和认知发育商均显著高于对照组,差异均有统计学意义(均P0.01)。结论:体外反搏联合言语训练较单纯言语训练可更有效改善脑瘫并语言发育迟缓患儿的言语发育和认知发育。