Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation

Two families, originally diagnosed as having nonsyndromic X-linked mental retardation (NSXLMR), were reviewed when it was shown that they had a 24-bp duplication (428-45 1dup(24bp)) in the ARX gene [Stromme et al., 2002: Nat Genet 30:441-445]. This same duplication had also been found in three other families: one with X-linked infantile spasms and hypsarrhythmia (X-linked West syndrome, MIM 308350) and two with XLMR and dystonic movements of the hands (Partington syndrome, MIM 309510). On review, manifestations of both West and Partington syndromes were found in some individuals from both families. In addition, it was found that one individual had autism and two had autistic behavior, one of whom had epilepsy. The degree of mental retardation ranged from mild to severe. A GCG trinucleotide expansion (GCG)10+7 and a deletion of 1,517 by in the ARX gene have also been found in association with the West syndrome, and a missense mutation (1058C >T) in a family with a newly recognized form of myoclonic epilepsy, severe mental retardation, and spastic paraplegia [Scheffer et al., 2002: Neurology, in press]. Evidently all these disorders are expressions of mutations in the same gene. It remains to be seen what proportions of patients with infantile spasms, focal dystonia, autism, epilepsy, and nonsyndromic mental retardation are accounted for by mutations in the ARX gene. (C) 2002 Wiley-Liss, Inc.

Factors associated with rural practice among Australian-trained general practitioners

Objective: To determine the factors associated with general practitioners' current practice location, with particular emphasis on rural location. Design: Observational, retrospective, case-control study using a self-administered questionnaire. Setting: Australian general practices in December 2000. Participants: 2414 Australian-trained rural and urban GPs. Main outcome measure: Current urban or rural practice location. Results: For Australia as a whole, rural GPs were more likely to be male (odds ratio [OR], 1.42; 95% CI, 1.17-1.73), Australian-born (OR, 1.95; 95% CI, 1.55-2.45), and to report attending a rural primary school for some (OR, 2.21; 95% CI, 1.69-2.89) or all (OR, 2.79; 95% CI, 1.94-4.00) of their primary schooling. Rural GPs' partners or spouses were also more likely to report some (OR, 2.75; 95% CI, 2.07-3.66) or all (OR, 2.86; 95% CI, 2.02-4.05) rural primary schooling. A rural background in both GP and partner produced the highest likelihood of rural practice (OR, 6.28; 95% CI, 4.26-9.25). For individual jurisdictions, a trend towards more rural GPs being men was only significant in Tasmania. In all jurisdictions except Tasmania and the Northern Territory, rural GPs were more likely to be Australian-born. Conclusions: GPs' and their partners' rural background (residence and primary and secondary schooling) influences choice of practice location, with partners' background appearing to exert more influence.

Impact of undergraduate and postgraduate rural training, and medical school entry criteria on rural practice among Australian general practitioners: national study of 2414 doctors

Objective To determine the association between rural undergraduate training, rural postgraduate training and medical school entry criteria favouring rural students, on likelihood of working in rural Australian general practice. Methods National case - control study of 2414 rural and urban general practitioners (GPs) sampled from the Health Insurance Commission database. Participants completed a questionnaire providing information on demographics, current practice location and rural undergraduate and postgraduate experience. Results Rural GPs were more likely to report having had any rural undergraduate training [ odds ratio ( OR) 1.61, 95% confidence interval (CI) 1.32 - 1.95] than were urban GPs. Rural GPs were much more likely to report having had rural postgraduate training ( OR 3.14, 95% CI 2.57 - 3.83). As the duration of rural postgraduate training increased so did the likelihood of working as a rural GP: those reporting that more than half their postgraduate training was rural were most likely to be rural GPs ( OR 10.52, 95% CI 5.39 - 20.51). South Australians whose final high school year was rural were more likely to be rural GPs ( OR 3.18, 95% CI 0.99 - 10.22). Conclusions Undergraduate rural training, postgraduate training and medical school entry criteria favouring rural students, all are associated with an increased likelihood of being a rural GP. Longer rural postgraduate training is more strongly associated with rural practice. These findings argue for continuation of rural undergraduate training opportunities and rural entry schemes, and an expansion in postgraduate training opportunities for GPs.

Palliative care at home: general practitioners working with palliative care teams

Home care is the preferred option for most people with a terminal illness. Providing home care relies on good community-based services, and a general practice workforce competent in palliative care practice and willing to accommodate patients' needs. Structured palliative care training of general practitioners is needed at undergraduate and postgraduate level, with attention to barriers to teamwork and communication. Good palliative care-can be delivered to patients at home by GPs (supported by specialist palliative care teams) and community nurses, with access to an inpatient facility when required. To optimise patient care, careful planning and good communication between all members of the healthcare team is crucial.

Neighborhood and Efficiency in Manufacturing in Brazilian Regions: A Spatial Markov Chain Analysis

This paper analyzes the geography of regional competitiveness in manufacturing in Brazil. The authors estimate stochastic frontiers to calculate regional efficiency of representative firms in 137 regions in the period 2000-2006, in four sectors defined by technological intensity. The efficiency results are analyzed using Markov Spatial Transition Matrices to provide insights into the transition of regions between efficiency levels, considering their local spatial context. The results indicate that geography plays an important role in manufacturing competitiveness. In particular, regions with more competitive neighbors are more likely to improve their relative efficiency (pull effect) over time, and regions with less competitive neighbors are more likely to lose relative efficiency (drag effect). The authors find that the pull effect is stronger than the drag effect.

Spatial aspects of trade liberalization in Colombia: A general equilibrium approach

This paper offers some preliminary steps in the marriage of some of the theoretical foundations of new economic geography with spatial computable general equilibrium models. Modelling the spatial economy of Colombia using the traditional assumptions of computable general equilibrium (CGE) models makes little sense when one territorial unit, Bogota, accounts for over one quarter of GDP and where transportation costs are high and accessibility low compared to European or North American standards. Hence, handling market imperfections becomes imperative as does the need to address internal spatial issues from the perspective of Colombia`s increasing involvement with external markets. The paper builds on the Centro de Estudios de Economia Regional (CEER) model, a spatial CGE model of the Colombian economy; non-constant returns and non-iceberg transportation costs are introduced and some simulation exercises carried out. The results confirm the asymmetric impacts that trade liberalization has on a spatial economy in which one region, Bogota, is able to more fully exploit scale economies vis--vis the rest of Colombia. The analysis also reveals the importance of different hypotheses on factor mobility and the role of price effects to better understand the consequences of trade opening in a developing economy.

Variable Demand and Profitability in Service Companies: a case study in the information technology sector

Managing a variable demand scenario is particularly challenging on services organizations because services companies usually have a major part of fixed costs. The article studies how a services organization manages its demand variability and its relation with the organization`s profitability. Moreover, the study searched for alternatives used to reduce the demand variability`s impact on the profitability of the company. The research was based on a case study with a Brazilian services provider on information technology business. The study suggests that alternatives like using outsourced employees to cover demand peaks may bring benefits only on short term, reducing the profitability of the company on long term: Some options are revealed, like the internationalization of employees and the investment on developing its own workforce.

Familial partial epilepsy with variable foci: Clinical features and linkage to chromosome 22q12

Background: Familial partial epilepsy with variable foci (FPEVF) is an autosomal dominant syndrome characterized by partial seizures originating from different brain regions in different family members in the absence of detectable structural abnormalities. A gene for FPEVF was mapped to chromosome 22q12 in two distantly related French-Canadian families. Methods: We describe the clinical features and performed a linkage analysis in a Spanish kindred and in a third French-Canadian family distantly related to the original pedigrees. Results: Onset of seizures was typically in middle childhood, and attacks were usually easy to control. Seizure semiology varied among family members but was constant for each individual. In some, a pattern of nocturnal frontal lobe seizures led to consideration of the diagnosis of autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). The Spanish family was mapped to chromosome 22q (multipoint lod score, 3.4), and the new French-Canadian family had a multipoint lod score of 2.97 and shared the haplotype of the original French-Canadian families. Conclusions: Identification of the various forms of familial partial epilepsy is challenging, particularly in small families, in which insufficient individuals exist to identify a specific pattern. We provide clinical guidelines for this task, which will eventually be supplanted by specific molecular diagnosis. We confirmed linkage of FPEVF to chromosome 22q 12 and redefined the region to a 5.2-Mb segment of DNA.

Variable effects of larval size on post-metamorphic performance in the field

Larval quality may be capable of explaining much of the variation in the recruitment and subsequent population dynamics of benthic marine invertebrates. Whilst the effects of larval nutritional condition on adult performance have received the most attention, recent work has shown that larval size may also be an important and ubiquitous source of variation in larval quality. We examined the effects of variation in larval size on the post-metamorphic survival and growth of Watersipora subtorquata in 2 very different habitats - experimental substrata and pier pilings. We found strong effects of larval size on colony performance, although these varied among experiments. For colonies on experimental substrata, larval size positively affected adult survival and, initially, growth. However, after 3 wk in the field, there was no relationship between larval size and colony size, possibly because colonies were completely surrounded by newly settled organisms. Larval size also positively affected post-metamorphic growth of colonies on pier pilings, but, surprisingly, colonies that came from larger larvae had lower survival than colonies from smaller larvae. Overall, variation in larval size will strongly affect the recruitment and subsequent performance of adults in this species, although this may vary among different habitats. This study highlights the importance of examining the effects of larval quality on adult performance in as realistic conditions as possible, because of the strong interaction between larval size effects and the environment.

Niobium to alcohol mol ratio control of the concurring esterification and etherification reactions promoted by NbCl5 and Al2O3 catalysts under microwave irradiation

Alcohols and acids can be switched to produce ethers or esters by varying the alcohol to catalyst mol ratio, in a new etherification and esterification method using NbCl5/Al2O3 catalyst under ""solvent free"" conditions and promoted by MW (microwave) irradiation. A ""two sites"" mechanism for the reaction is proposed, in an attempt to clarify the tendency of the catalyst to be dependent on the alcohol alone during the esterification process. (c) 2008 Elsevier B.V. All rights reserved.

Falls prevention in rural general practice: what stands the test of time and where to from here?

Objective: General practitioner recall of the 1992-96 'Stay on Your Feet'(SOYF) program and its influence on practice were surveyed five years post-intervention to gauge sustainability of the SOYF General Practice (GP) component. Methods: A survey assessed which SOYF components were still in existence, current practice related to falls prevention, and interest in professional development. All general practitioners (GPs) situated within the boundaries of a rural Area Health Service were mailed a survey in late 2001. Results: Response rate was 66.5% (139/ 209). Of 117 GPs in practice at the time of SOYF, 80.2% reported having heard of SOYF and 74.4% of those felt it had influenced practice. Half (50.9%) still had a copy of the SOYF GP resource and of those, 58.6% used it at least 'occasionally'. Three-quarters of GPs surveyed (75.2%) checked medications 'most/almost all' of the time with patients over 60 years; 46.7% assessed falls risk factors; 41.3% gave advice; and 22.6% referred to allied health practitioners. GPs indicated a strong interest in falls prevention- related professional development. There was no significant association between use of the SOYF resource package and any of the current falls prevention practices (all chi(2)>0.05). Conclusions and implications: There was high recall of SOYF and a general belief that it influenced practice. There was little indication that use of the resource had any lasting influence on GPs' practices. In future, careful thought needs to go into designing a program that has potential to affect long-term change in GPs' falls prevention practice.