193 research outputs found
Impaired telomere maintenance in Alazami syndrome patients with LARP7 deficiency
No full textAbstract
Background
Loss of function in genes required for telomere maintenance result in disorders known as telomeropathies, which are characterized by a pattern of symptoms including generalized and specific lymphocytopenias as well as very short telomere length and disease anticipation.
Methods
Because human LARP7 is the most likely ortholog of the Tetrahymena p65 protein, which is required for telomerase activity in that organism, we investigated the effects of LARP7 silencing in human cells as well as in two distinct families with Alazami syndrome (loss of function of LARP7).
Results
Depletion of LARP7 caused a reduction in telomerase enzymatic activity and progressively shorter telomeres in human cancer cell lines. Alazami syndrome patients from two separate cohorts exhibited very short lymphocyte telomeres. Further, wild-type offspring of LARP7 mutant individuals also had very short telomeres, comparable to what is observed in telomerase (hTERT) mutant cohorts.
Conclusions
Together, these experiments demonstrate that in addition to the readily apparent developmental disorder associated with LARP7 deficiency, an underlying telomeropathy exists even in unaffected siblings of these individuals
Impaired telomere maintenance in Alazami syndrome patients with LARP7 deficiency
No full textAbstract Background Loss of function in genes required for telomere maintenance result in disorders known as telomeropathies, which are characterized by a pattern of symptoms including generalized and specific lymphocytopenias as well as very short telomere length and disease anticipation. Methods Because human LARP7 is the most likely ortholog of the Tetrahymena p65 protein, which is required for telomerase activity in that organism, we investigated the effects of LARP7 silencing in human cells as well as in two distinct families with Alazami syndrome (loss of function of LARP7). Results Depletion of LARP7 caused a reduction in telomerase enzymatic activity and progressively shorter telomeres in human cancer cell lines. Alazami syndrome patients from two separate cohorts exhibited very short lymphocyte telomeres. Further, wild-type offspring of LARP7 mutant individuals also had very short telomeres, comparable to what is observed in telomerase (hTERT) mutant cohorts. Conclusions Together, these experiments demonstrate that in addition to the readily apparent developmental disorder associated with LARP7 deficiency, an underlying telomeropathy exists even in unaffected siblings of these individuals
Infrastructure bottlenecks, private provision, and industrial productivity : a study of Indonesian and Thai cities
No full textThis research project followed an earlier similar project on Nigeria, applying the same methods. A sample of manufacturers was surveyed to document their responses to infrastructure deficiencies in electricity, water, transport, telecommunications, and waste disposal. They found the manufacturers undertook significant expenditures to offset deficiencies in publicly provided infrastructure services, and that changing public policy toward privately supplied infrastructure and changing the pricing of public infrastructure could yield significant savings in social costs. Thailand and Indonesia have made significant strides in following the policies for private sector participation in infrastructure provision. Nigeria, where public infrastructure monopolies still dominate, lags behind, yet stands to benefit most from such policy reform. Government policy toward the industrial organization and pricing of infrastructure sectors can significantly help a developing economy realize the benefits of private sector participation in the provision of infrastructure services.Banks&Banking Reform,Decentralization,Public Sector Economics&Finance,Environmental Economics&Policies,Municipal Financial Management,Banks&Banking Reform,Municipal Financial Management,Urban Services to the Poor,Urban Services to the Poor,Public Sector Economics&Finance
The syndrome of deafness-dystonia: Clinical and genetic heterogeneity
No full textThe syndrome of deafness-dystonia is rare and refers to the association of hearing impairment and dystonia when these are dominant features of a disease. Known genetic causes include Mohr-Tranebjaerg syndrome, Woodhouse-Sakati syndrome, and mitochondrial disorders, but the cause frequently remains unidentified. The aim of the current study was to better characterize etiological and clinical aspects of deafness-dystonia syndrome. We evaluated 20 patients with deafness-dystonia syndrome who were seen during the period between 1994 and 2011. The cause was identified in only 7 patients and included methylmalonic aciduria, meningoencephalitis, perinatal hypoxic-ischemic injury, large genomic deletion on chromosome 7q21, translocase of inner mitochondrial membrane 8 homolog A (TIMM8A) mutation (Mohr-Tranebjaerg syndrome), and chromosome 2 open reading frame 37 (C2orf37) mutation (Woodhouse-Sakati syndrome). The age of onset and clinical characteristics in these patients varied, depending on the etiology. In 13 patients, the cause remained unexplained despite extensive work-up. In the group of patients who had unknown etiology, a family history for deafness and/or dystonia was present the majority of patients, suggesting a strong genetic component. Sensory-neural deafness always preceded dystonia. Two clinical patterns of deafness-dystonia syndrome were observed: patients who had an onset in childhood had generalized dystonia (10 of 13 patients) with frequent bulbar involvement, whereas patients who had a dystonia onset in adulthood had segmental dystonia (3 of 13 patients) with the invariable presence of laryngeal dystonia. Deafness-dystonia syndrome is etiologically and clinically heterogeneous, and most patients have an unknown cause. The different age at onset and variable family history suggest a heterogeneous genetic background, possibly including currently unidentified genetic conditions. (c) 2013 Movement Disorder Societ
Replication of low pathogenic avian influenza virus in naturally infected Mallard ducks (Anas platyrhynchos) causes no morphologic lesions
No full textAlthough the Mallard (Anas platyrhynchos) is considered an important maintenance host for low pathogenic avian influenza (LPAI) viruses, viral cell tropism and pathology in naturally infected birds are largely unknown. In August 2006, we collected 19 free-living hatch-year Mallards that were positive for LPAI virus by real-time reverse-transcriptase polymerase chain reaction (RRT-PCR) in combined oropharyngeal and cloacal swabs. We investigated virus infection and associated lesions in the digestive and respiratory tracts by RRT-PCR, virus culture, immunohistochemistry (IHC), and histology. By RRT-PCR, 15 birds were positive in cloacal bursa, colon/cloaca, or both, and three were positive in lungs. Virus was isolated from eight birds and typed as H2N3 (three birds), H3N3 (two birds), H3N8 (one bird), H4N6 (one bird), and H?N3 (one bird). By IHC, birds were positive in the cloacal bursa (eight birds), colon (three), cecum (two), or ileum (one). Cell types infected were superficial epithelial cells of the bursa and epithelial cells of the intestinal villi and, less commonly, mucosal glands. By histology, there was no evidence of lesions associated with LPAI virus infection. These results show that epithelia of the cloacal bursa and of the lower intestine are important sites of natural LPAI virus infection in free-living hatch-year Mallards. The lack of lesions associated with this infection suggests that there is a strong selection by LPAI virus to cause minimal virulence in this maintenance host species
Does public capital crowd out private capital? : evidence from India
No full textA recent but rapidly growing empirical literature focuses on the relationship between public and private capital. But for the most part, it ignores the heterogeneity of public investment. In many countries, especially in the developing world, public investment includes not only basic infrastructure projects, but also commercial and industrial projects similar to those undertaken by the private sector. And those two types of public investment are likely to have quite different effects on the accumulation of private capital. Using data from India, the author examines this issue empirically by implementing a simple analytical model encompassing two types of public capital. The empirical results show that in the long run capital for public infrastructure projects crowds in private capital - other types of public capital have the opposite effect. But in the short run, both kinds of public investment may crowd out private investment.Decentralization,Economic Theory&Research,International Terrorism&Counterterrorism,Banks&Banking Reform,Capital Markets and Capital Flows,Inequality,Economic Stabilization,Economic Theory&Research,Environmental Economics&Policies,Banks&Banking Reform
Body condition of spring-migrating Green-winged Teal (Anas crecca)
No full textSpring migration is an energetically demanding event that can impact nutrient dynamics of individuals during the breeding season through carry-over effects. Limited food availability at spring stopover areas may have cross-seasonal effects that adversely impact waterfowl populations. We collected 161 Green-winged Teal (Anas crecca Linnaeus, 1758; hereafter Teal) throughout the Illinois River Valley, USA, during February–April of 2016–2018 and estimated body condition using three condition indices (scaled mass index, scaled wing index, body-size index) for comparison with carcass lipid and protein values. Lipids were 18.3% (95% CI = 1.0%–38.5%) and 21.6% (95% CI = 4.8%–41.0%) greater at locations with moderate (250–600 kg/ha) and high (>600 kg/ha) moist-soil seed densities, respectively, than low moist-seed density (<250 kg/ha) sites. Lipids also increased 2.4% (95% CI = 0.2%–5.1%) with every 10% increase in the proportion of plant seeds in diets and decreased 0.9% (SE = 0.4%–1.4%) and 3.8% (SE = 2.1%–5.4%) with every 1-day increase in collection date and 1 °C rise in mean temperature, respectively. Condition indices based on morphology were poor (r ≤ 0.45) predictors of lipids and led to potentially erroneous conclusions regarding important contributions to body condition. Availability of emergent wetlands with adequate food resources may affect lipid reserves of Teal during spring migration and have cross-seasonal effects during the breeding season.The presentation of the authors' names and (or) special characters in the title of the pdf file of the accepted manuscript may differ slightly from what is displayed on the item page. The information in the pdf file of the accepted manuscript reflects the original submission by the author
Manufacturers'responses to infrastructure deficiencies in Nigeria : private alternatives and policy options
No full textAs cities in developing countries grow, the need to meet increasing demand for urban infrastructure services has become an important policy problem. Failure to respond adequately affects productivity and the quality of life in those cities. In order to make the Bank's lending programs in this area more effective, greater understanding is needed of: (a) the ways inadequate services affect business and productivity in urban areas; (b) the options for more efficiently providing and maintaining the delivery of various infrastructure services; and (c) potential cost savings from improved services. Based on empirical observations, this report suggests policy options for improving the provision of infrastructure services in Nigeria, the first country for which the Bank has undertaken this type of research: (a) regulatory changes to enable greater use of existing private capacity (for example, allowing the sale of excess private electrical power); (b) participation of the private sector in the supply of infrastructure-related services; and (c) pricing policies that are more efficient in the presence of congestion, system failures, and variations in the private provision of services.Banks&Banking Reform,Private Participation in Infrastructure,Microfinance,Economic Theory&Research,Public Sector Economics&Finance
Structural adjustment, ownership transformation, and size in Polish industry
No full textThe authors argue that significant adjustment took place in Polish industry after Poland's 1990 reforms. They analyze data on two- and three-digit manufacturing industries, disaggregated by firm ownership and size. By applying a statistical model to labor productivity growth, they try to disentangle structural determinants of the recovery from cyclical determinants. They contend that structural determinants outweigh cyclical ones. They find that the productive response of state enterprises was markedly different from that of private firms--private firms outperformed state enterprises (just as anecdotal evidence suggested). Size also matters, at least among private firms. Generally, there seem to be increasing returns to scale for private firms, except for very large enterprises (many of which were previously state-owned and may need further restructuring). The fact that size does not appear to matter among public enterprises suggests that several of them have not yet adopted optimal technologies and production processes.Banks&Banking Reform,Municipal Financial Management,Labor Policies,Environmental Economics&Policies,Economic Theory&Research,Environmental Economics&Policies,Banks&Banking Reform,Municipal Financial Management,Economic Theory&Research,Health Monitoring&Evaluation
Foreign aid's impact on public spending
No full textUsing a model of aid fungibility, the authors examine the relationship between foreign aid and public spending. Based on a panel of cross-country and time-series data, their results show that roughly 75 cents of every dollar given in net development assistance goes to current spending and 25 cents to capital spending in the recipient countries. But concessionary loans - a component of development assistance - stimulate far more government spending. Their results also show that aid increases both public and private investment. To test aid fungibility across both public spending categories, they use a newly constructed data series on the net disbursement of concessionary loans. They find that concessionary loans given to the transport and communication sector are fully nonfungible. But loans to the energy sector are converted into fungible monies and part of the funds leak into transport and communications. Loans to agriculture and education are also fungible. There is no evidence of concessionary funds being diverted for military purposes. Their results show that total public spending in the health sector has no impact on reducing infant mortality, but concessionary loans to the health sector do. This finding leads the authors to conclude that linking foreign aid to an agreed-upon public spending program in areas critical to development might be an effective way to transfer resources to developing countries.Decentralization,Gender and Development,Development Economics&Aid Effectiveness,Public Sector Economics&Finance,Economic Theory&Research,Inequality,Development Economics&Aid Effectiveness,Public Sector Economics&Finance,National Governance,Economic Stabilization
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