Long-term outcome in 134 patients with galactosaemia

In a retrospective study 134 galactosaemic patients, born between 1955 and 1989 in the Federal Republic of Germany were traced and their long-term outcome evaluated. We investigated 83 galactosaemic patients (78 homozygotes, 5 compound heterozygotes) by clinical, psychometric and laboratory testing; 31 patients were evaluated by medical history, the remaining 20 patients had died due to sequelae of the underlying disease. In 48 out of 78 classical galactosaemia patients galactose-free therapy had been started before the 15th day, in 19 between days 15 and 56 and in 11 patients after the 56th day. Physical findings revealed that puberty was delayed in 1 out of 18 males and 6 out of 11 females. Neurological abnormalities included ataxia (n=6), intention tremor (n=11) and microcephaly (n=10). Speech abnormalities were found in 43 out of 66 patients over 3 years of age and disturbance of visual perception and/or arithmetic deficits in 29. Intelligence declined with age, i.e., a DQ or IQ less than 85 was found in 4 out of 34 patients less than 6 years of age (12%), in 10 out of 18 between 7 and 12 years (56%) and in 20 out of 24 older than 12 years (83%). Metabolite patterns (RBC galactose-1-phosphate and UDP-galactose, plasma and urinary galactitol) did not correlate with DQ or IQ. Dietary compliance was good in almost all patients. Compound heterozygotes (n=5) had normal mental and growth development and all laboratory parameters were in the normal range. The cause of the unsatisfactory outcome of well-treated galactosaemic patients with disturbances in long-term development remains unclear. This could be due to a chronic intoxication of galactose metabolites or a deficiency of UDP-galactose or galactose-containing glycoproteins or glycolipids.This study was supported by a grant from the Stifterverband für die Deutsche Wissenschaft (Huebner-stiftung), grant TS 114/18/89 and by the Arbeitsgemeinschaft für Pädiatrische Stoffwechselstörungen     

母亲孕期先兆流产与儿童智力发育相关性研究

目的探讨孕期先兆流产对所出生儿童智力发育的影响情况,为进一步做好围产期保健和儿童保健工作提供科学理论基础。方法在广州市海珠区随机分层抽取公立、厂企街道及私立等不同性质托幼机构各10间,分别对175名先兆流产组4￣7岁儿童和182名正常对照组同龄儿童采用调查问卷,详细询问一般情况、孕期及分娩情况、儿童生长发育及教育情况等;同时对两组研究对象进行韦氏智力测验,并进行单因素分析以及多因素分析等统计学处理。结果母亲孕期先兆流产对出生儿童智力发育有负面影响,主要表现在言语智商和总智商方面。结论应尽量避免各种原因造成的先兆流产,进一步深入研究先兆流产与儿童智力发育的关系及其生物医学机制,积极寻找先兆流产后既能继续妊娠又不影响儿童智力发育的科学干预措施,加强先兆流产后出生儿童的保健、教育工作,弥补先兆流产对儿童智商所造成的不良影响。     

扶元补脑冲剂对老年性痴呆鼠脑ATP酶及脂质过氧化反应的影响

目的:研究扶元补脑冲剂(红参、山楂、黄芪、淫羊藿、丹参、泽泻、石菖蒲)对老年性痴呆鼠脑ATP酶活性、自由基含量及脑系数的影响.方法:以三氯化铝痴呆模型小鼠为研究对象,探讨了扶元补脑冲剂对小鼠脑组织的MDA含量、Na -K ATP酶、Mg2 -ATP酶活性、脑系数及血清SOD活性的影响.结果:与模型组比较,扶元补脑冲剂能显著提高小鼠脑Na -K ATP酶、Mg2 -ATP酶及血清SOD的活性以及脑系数,降低脑MDA含量.结论:提示增强脑组织ATP酶的活性及机体抗脂质过氧化可能是扶元补脑冲剂防治老年性痴呆的作用机制之一.     

Potential health risks to adults and children in the UK from exposure to dietary lead in gamebirds shot with lead ammunition

We estimate potential risks to human health in the UK from dietary exposure to lead from wild gamebirds killed by shooting. The main source of exposure to lead in Europe is now dietary. We used data on lead concentrations in UK gamebirds, from which gunshot had been removed following cooking to simulate human exposure to lead. We used UK food consumption and lead concentration data to evaluate the number of gamebird meals consumed weekly that would be expected, based upon published studies, to result in changes, over and above those resulting from exposure to lead in the base diet, in intelligence quotient (IQ), Systolic Blood Pressure and chronic kidney disease (CKD) considered in a recent opinion of the European Food Safety Authority (EFSA) to be significant at a population level and also in SAT test scores and in rates of spontaneous abortion. We found the consumption of <1 meal of game a week may be associated with a one point reduction in IQ in children and 1.2–6.5 gamebird meals per week may be associated with the other effects. These results should help to inform the development of appropriate responses to the risks from ingesting lead from ammunition in game in the UK and European Union (EU).     

How modality-specific is morphology?

Writing has long been considered to be dependent on speaking. However, modality-specific dissociations between written and spoken word production imply that word production is supported by distinct neural mechanisms in writing, which can be impaired or spared regardless of the intactness of spoken word production. Rapp et al. (2015). Modality and morphology: What we write may not be what we say. Psychological Science, 26, 892–902 documented a double dissociation where problems with regular inflections were selectively restricted to writing or speaking. We report on two English-speaking aphasic individuals who exhibit this same modality-specific dissociation of inflectional processing, replicating the original findings. We expand on Rapp et al.’s study by examining whether the dissociations observed with regular inflections extend to other morphological forms, such as derivation and irregular inflection. Results showed that the dissociation holds for derivation; however, both participants were impaired with irregular inflections in both output modalities. Implications of these findings for morphological processing and the independence of the orthographic system are discussed.     

Cognitive performance among cohorts of children exposed to a waste disposal site containing heavy metals in Chile

Between 1984 and 1998, people living in Arica were involuntarily exposed to metal-containing waste stored in the urban area. The study aims to determine whether children who lived near the waste disposal site during early childhood experienced negative effects on their cognitive development. The cognitive performance was assessed using the Wechsler Intelligence Scale for Children. The exposure variable was defined by the year of birth in three categories: (1) Pre-remediation (born before 1999); (2) During-remediation (born between 1999 and 2003); and (3) Post-remediation (born after 2003). In the crude analysis, a difference of 10 points in the IQ average was observed between the group born in the pre- (81.9 points) and post-remediation period (91.1 points). The difference between both groups was five times higher as compared to children of similar age and socioeconomic status in other cities of Chile. This result could be related with a period of high potential for exposure to this contaminated site.     

Treatment of Premature Ejaculation by Bibliotherapy: An experimental study

In this research, bibliotherapy combined with a positive reinforcement procedure was applied to the treatment of premature ejaculation. The results indicate that it is possible to obtain significant improvement in ejaculatory latency by using only a self-administered treatment. Moreover, this study indicates that this improvement is identical to the one obtained when therapists conduct the treatment. Although more subjects treated by bibliotherapy quit the treatment, bibliotherapy was very useful     

Assessing the relationship between intelligence and the PEAK relational training system

The Promoting the Emergence of Advanced Knowledge (PEAK) Relational Training System is an assessment and curriculum tool developed for basic and advanced skills using behavior analytic approaches. The current study evaluated the relationship between intelligence (as measured by IQ scores) and performance on the PEAK assessment with children with autism or other developmental and intellectual disabilities. Each child was administered the PEAK assessment from the Direct Training Module. Scores from this assessment were compared to IQ scores for all participants to assess the relationship between the two measures. Results indicated a strong, significant correlation between scores on standardized IQ tests and scores on the PEAK assessment (r = .759, p < .01). The results demonstrated strong convergent validity and indicate that the PEAK may be a useful assessment and curriculum guide for training language and learning skills to individuals with autism and other developmental disabilities.     

Brain atrophy in primary progressive aphasia involves the cholinergic basal forebrain and Ayala's nucleus

Primary progressive aphasia (PPA) is characterized by left hemispheric frontotemporal cortical atrophy. Evidence from anatomical studies suggests that the nucleus subputaminalis (NSP), a subnucleus of the cholinergic basal forebrain, may be involved in the pathological process of PPA. Therefore, we studied the pattern of cortical and basal forebrain atrophy in 10 patients with a clinical diagnosis of PPA and 18 healthy age-matched controls using high-resolution magnetic resonance imaging (MRI). We determined the cholinergic basal forebrain nuclei according to Mesulam's nomenclature and the NSP in MRI reference space based on histological sections and the MRI scan of a post-mortem brain in cranio. Using voxel-based analysis, we found left hemispheric cortical atrophy in PPA patients compared with controls, including prefrontal, lateral temporal and medial temporal lobe areas. We detected cholinergic basal forebrain atrophy in left predominant localizations of Ch4p, Ch4am, Ch4al, Ch3 and NSP. For the first time, we have described the pattern of basal forebrain atrophy in PPA and confirmed the involvement of NSP that had been predicted based on theoretical considerations. Our findings may enhance understanding of the role of cholinergic degeneration for the regional specificity of the cortical destruction leading to the syndrome of PPA.