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Background: Biallelic variants in POLR1C are associated with POLR3-related leukodystrophy (POLR3-HLD), or 4H leukodystrophy (Hypomyelination, Hypodontia, Hypogonadotropic Hypogonadism), and Treacher Collins syndrome (TCS). The clinical spectrum of POLR3-HLD caused by variants in this gene has not been described. Methods: A cross-sectional observational study involving 25 centers worldwide was conducted between 2016 and 2018. The clinical, radiologic and molecular features of 23 unreported and previously reported cases of POLR3-HLD caused by POLR1C variants were reviewed. Results: Most participants presented between birth and age 6 years with motor difficulties. Neurological deterioration was seen during childhood, suggesting a more severe phenotype than previously described. The dental, ocular and endocrine features often seen in POLR3-HLD were not invariably present. Five patients (22%) had a combination of hypomyelinating leukodystrophy and abnormal craniofacial development, including one individual with clear TCS features. Several cases did not exhibit all the typical radiologic characteristics of POLR3-HLD. A total of 29 different pathogenic variants in POLR1C were identified, including 13 new disease-causing variants. Conclusions: Based on the largest cohort of patients to date, these results suggest novel characteristics of POLR1C-related disorder, with a spectrum of clinical involvement characterized by hypomyelinating leukodystrophy with or without abnormal craniofacial development reminiscent of TCS.
Agriculture in the Central Himalayan Region depends on the availability of suitable germplasm as well as natural conditions. Due to extreme weather conditions, food and nutrition security is a major issue for communities inhabiting these remote and inaccessible areas. Millets are common crops grown in these areas. Foxtail millet (Setaria italica (L.) P. Beauv) is an important crop and forms a considerable part of the diet in this region. The aim of the present study was to explore, collect, conserve and evaluate the untapped genetic diversity of foxtail millet at the molecular level and discover variability in their nutritional traits. A total of 30 accessions having unique traits of agronomic importance were collected and molecular profiling was performed. A total of 63 alleles were generated with an average of 2.52 alleles per locus and average expected heterozygosity of 0.37 ± 0.231. Significant genetic variability was revealed through the genetic differentiation (Fst) and gene flow (Nm) values. Structure-based analysis divided whole germplasm into three sub-groups. Rich variability was found in nutritional traits such as dietary fibre in husked grains, carbohydrate, protein, lysine and thiamine content. The collected germplasm may be useful for developing nutritionally rich and agronomically beneficial varieties of foxtail millet and also designing strategies for utilization of unexploited genetic diversity for food and nutrition security in this and other similar agro-ecological regions.
To describe our experience and provide guidelines for maximum safe balloon sizes according to age in children undergoing balloon dilatation.
A retrospective review was conducted of children undergoing balloon dilatation for subglottic stenosis in a paediatric tertiary unit between May 2006 and February 2016.
A total of 166 patients underwent balloon dilatation. Mean ( ± standard deviation) patient age was 4.5 ± 3.99 years. The median balloon size was 8 mm, the median balloon inflation pressure was 10 atm, and the mean balloon inflation time was 65.1 ± 18.6 seconds. No significant unexpected events occurred. The Pearson correlation co-efficient for the relationship between patient age and balloon size was 0.85 (p = 0.001), suggesting a strongly positive correlation.
This study demonstrated that balloon dilatation is a safe procedure for airway stenosis. The results suggest using a balloon diameter that is equal to the outer diameter of the age-appropriate endotracheal tube +1 mm for the larynx and subglottis and +2 mm for the trachea.
Lower and middle income countries (LMICs) are home to >80% of the global population, but mental health researchers and LMIC investigator led publications are concentrated in 10% of LMICs. Increasing research and research outputs, such as in the form of peer reviewed publications, require increased capacity building (CB) opportunities in LMICs. The National Institute of Mental Health (NIMH) initiative, Collaborative Hubs for International Research on Mental Health reaches across five regional ‘hubs’ established in LMICs, to provide training and support for emerging researchers through hub-specific CB activities. This paper describes the range of CB activities, the process of monitoring, and the early outcomes of CB activities conducted by the five research hubs.
The indicators used to describe the nature, the monitoring, and the early outcomes of CB activities were developed collectively by the members of an inter-hub CB workgroup representing all five hubs. These indicators included but were not limited to courses, publications, and grants.
Results for all indicators demonstrate a wide range of feasible CB activities. The five hubs were successful in providing at least one and the majority several courses; 13 CB recipient-led articles were accepted for publication; and nine grant applications were successful.
The hubs were successful in providing CB recipients with a wide range of CB activities. The challenge remains to ensure ongoing CB of mental health researchers in LMICs, and in particular, to sustain the CB efforts of the five hubs after the termination of NIMH funding.
The binary X-ray source GX 1 + 4 was observed during a balloon flight in 1986, November. The source was in a relatively high intensity state. Time analysis of the data shows that the pulsation period was 111.8 ± 1.0 s indicating that one or more episodes of spin-down occurred between 1980 and 1986. Folded pulse profiles are very broad with an indication of a notch at the peak. Evidence has been found for a correlation between hard X-ray intensity and phase of the proposed 304 day orbital period. The time averaged intensity since 1980 is an order of magnitude lower than during the 1970’s. A survey of the post 1980 data shows that several reversals of the period derivative have occurred. Spin-up at the rates typical of the 1970’s has been followed by a dramatic spin-down episode with dP/dt>2.4 × 10−7 s/s.
Aspiration pneumonia is an important cause of death in head and neck cancer patients. This study therefore aimed to evaluate the risk factors associated with aspiration pneumonia in head and neck cancer patients.
Hospital death records from 12 years (2000–2012) were reviewed to obtain the number of deaths. Treatment details and cause of death were analysed. Statistical analysis was performed to identify the risk factors for aspiration pneumonia.
The records revealed that aspiration pneumonia was the cause of death in 51 out of 85 patients. Primary tumour site (oropharynx and hypopharynx, odds ratio 3.3; 95 per cent confidence interval 1.17–9.4, p = 0.02) and advanced tumour stage (odds ratio 4.2, 95 per cent confidence interval 1.16–15.61, p = 0.02) had significant negative impacts on aspiration pneumonia related mortality.
Advanced pharyngeal cancer patients are at an increased risk of aspiration pneumonia related death. Investigations for the early detection of this condition are recommended in these high-risk patients.
Plant genetic resources are raw materials and their use in breeding is one of the most sustainable ways to conserve biodiversity. The ICRISAT has over 120,000 accessions of its five mandate crops and six small millets. The management and utilization of such large diversity are greatest challenges to germplasm curators and crop breeders. New sources of variations have been discovered using core and minicore collections developed at the ICRISAT. About 1.4 million seed samples have been distributed; some accessions with specific attributes have been requested more frequently. The advances in genomics have led researchers to dissect population structure and diversity and mine allelic variations associated with agronomically beneficial traits. Genome-wide association mapping in sorghum has revealed significant marker–trait associations for many agronomically beneficial traits. Wild relatives harbour genes for resistance to diseases and insect pests. Resistance to pod borer in chickpea and pigeonpea and resistance to rust and late leaf spot in groundnut have been successfully introgressed into a cultivated genetic background. Synthetics in groundnut are available to broaden the cultigen's gene pool. ICRISAT has notified the release of 266 varieties/cultivars, germplasm, and elite genetic stocks with unique traits, with some having a significant impact on breeding programs. Seventy-five germplasm lines have been directly released for cultivation in 39 countries.
Post-traumatic stress disorder (PTSD) in response to the World Trade Center (WTC) disaster of 11 September 2001 (9/11) is one of the most prevalent and persistent health conditions among both professional (e.g. police) and non-traditional (e.g. construction worker) WTC responders, even several years after 9/11. However, little is known about the dimensionality and natural course of WTC-related PTSD symptomatology in these populations.
Data were analysed from 10 835 WTC responders, including 4035 police and 6800 non-traditional responders who were evaluated as part of the WTC Health Program, a clinic network in the New York area established by the National Institute for Occupational Safety and Health. Confirmatory factor analyses (CFAs) were used to evaluate structural models of PTSD symptom dimensionality; and autoregressive cross-lagged (ARCL) panel regressions were used to examine the prospective interrelationships among PTSD symptom clusters at 3, 6 and 8 years after 9/11.
CFAs suggested that five stable symptom clusters best represent PTSD symptom dimensionality in both police and non-traditional WTC responders. This five-factor model was also invariant over time with respect to factor loadings and structural parameters, thereby demonstrating its longitudinal stability. ARCL panel regression analyses revealed that hyperarousal symptoms had a prominent role in predicting other symptom clusters of PTSD, with anxious arousal symptoms primarily driving re-experiencing symptoms, and dysphoric arousal symptoms primarily driving emotional numbing symptoms over time.
Results of this study suggest that disaster-related PTSD symptomatology in WTC responders is best represented by five symptom dimensions. Anxious arousal symptoms, which are characterized by hypervigilance and exaggerated startle, may primarily drive re-experiencing symptoms, while dysphoric arousal symptoms, which are characterized by sleep disturbance, irritability/anger and concentration difficulties, may primarily drive emotional numbing symptoms over time. These results underscore the importance of assessment, monitoring and early intervention of hyperarousal symptoms in WTC and other disaster responders.
HERMES is a new high-resolution multi-object spectrograph on the Anglo Australian Telescope. The primary science driver for HERMES is the GALAH survey, GALactic Archaeology with HERMES. We are planning a spectroscopic survey of about a million stars, aimed at using chemical tagging techniques to reconstruct the star-forming aggregates that built up the disk, the bulge and halo of the Galaxy. This project will benefit greatly from the stellar distances and transverse motions from the Gaia mission.
Longitudinal symptoms of post-traumatic stress disorder (PTSD) are often characterized by heterogeneous trajectories, which may have unique pre-, peri- and post-trauma risk and protective factors. To date, however, no study has evaluated the nature and determinants of predominant trajectories of PTSD symptoms in World Trade Center (WTC) responders.
A total of 10835 WTC responders, including 4035 professional police responders and 6800 non-traditional responders (e.g. construction workers) who participated in the WTC Health Program (WTC-HP), were evaluated an average of 3, 6 and 8 years after the WTC attacks.
Among police responders, longitudinal PTSD symptoms were best characterized by four classes, with the majority (77.8%) in a resistant/resilient trajectory and the remainder exhibiting chronic (5.3%), recovering (8.4%) or delayed-onset (8.5%) symptom trajectories. Among non-traditional responders, a six-class solution was optimal, with fewer responders in a resistant/resilient trajectory (58.0%) and the remainder exhibiting recovering (12.3%), severe chronic (9.5%), subsyndromal increasing (7.3%), delayed-onset (6.7%) and moderate chronic (6.2%) trajectories. Prior psychiatric history, Hispanic ethnicity, severity of WTC exposure and WTC-related medical conditions were most strongly associated with symptomatic trajectories of PTSD symptoms in both groups of responders, whereas greater education and family and work support while working at the WTC site were protective against several of these trajectories.
Trajectories of PTSD symptoms in WTC responders are heterogeneous and associated uniquely with pre-, peri- and post-trauma risk and protective factors. Police responders were more likely than non-traditional responders to exhibit a resistant/resilient trajectory. These results underscore the importance of prevention, screening and treatment efforts that target high-risk disaster responders, particularly those with prior psychiatric history, high levels of trauma exposure and work-related medical morbidities.
Long-term tillage and fertilizer experiments were conducted in rice in kharif followed by lentil in dry subhumid Inceptisols at Varanasi and Faizabad; horse gram at Phulbani and linseed at Ranchi in moist subhumid Alfisols in rabi during 2001 to 2010. The study was conducted to assess the effect of conventional tillage (CT), low tillage + interculture (LT1) and low tillage + herbicide (LT2) together with 100% N (organic) (F1), 50% N (organic) + 50% N (inorganic) (F2) and 100% N (inorganic) (F3) on productivity, profitability, rainwater and energy use efficiencies. The results at Varanasi revealed that CT was superior with mean yield of 2389 kg ha−1, while F1 was superior with 2378 kg ha−1 in rice. At Faizabad, CT was superior with mean rice yield of 1851 kg ha−1 and lentil yield of 977 kg ha−1, while F1 was superior with 1704 and 993 kg ha−1 of rice and lentil, respectively. At Phulbani, F2 was superior with rice yield of 1170 kg ha−1. At Ranchi, F2 with rice yield of 986 kg ha−1 and F3 with linseed yield of 224 kg ha−1 were superior. The regression model of crop seasonal rainfall and yield deviations indicated an increasing trend in rice yield over mean (positive deviation) with increase in rainfall at all locations; while a decreasing trend (negative deviation) was found for lentil at Faizabad, horse gram at Phulbani and linseed at Ranchi. Based on economic analysis, CTF1 at Varanasi and Faizabad, CTF2 at Phulbani and LT2F2 at Ranchi were superior.
This experiment was conducted to study the long-term effect of soil management treatments on crop yields, sustainability yield indices (SYI) and soil fertility in rainfed semi-arid tropical Alfisol at Hayathnagar Research Farm, Hyderabad, India, during the period 1995 to 2009. The experiment was conducted in a split–split plot design with conventional tillage (CT) and minimum tillage (MT) as main factors, surface application of sorghum stover @ 2 t ha−1 (SS), fresh Gliricidia loppings @ 2 t ha−1 (GL) and ‘no’ residue (NR) as sub-factors and levels of N viz. 0 (N0), 30 (N30), 60 (N60) and 90 (N90) kg N ha−1 as sub–sub factors in a castor–sorghum two-year rotation. On an average, CT maintained 30.4 and 57.0% higher grain yields of sorghum and castor, respectively, over MT. Between two residues, GL performed well in both the crops. The highest yields of sorghum (1425 kg ha−1) and castor (876 kg ha−1) were recorded at 90 kg N ha−1. CT maintained higher SYI of 0.44 compared to MT (0.38) and higher agronomic efficiency (AE) of 13.5 and 6.76 kg grain kg−1 N for sorghum and castor crop, respectively. Use of crop residue as mulch had an advantage in increasing the yield of both the crops with increase in rainfall under CT even without N application (control), probably by making the soil more receptive to water infiltration, better moisture storage and by reducing the evaporative losses. Using response functions, the optimum fertilizer N requirement was also computed for a given set of tillage and residue combinations. The revised optimum fertilizer N doses for sorghum and castor varied from 45 to 56 kg ha−1 and 46 to 74 kg ha−1, respectively, under different tillage and residue combinations and could be recommended depending upon the soil management practices.
Post-conflict mental health studies in low-income countries have lacked
pre-conflict data to evaluate changes in psychiatric morbidity resulting
from political violence.
This prospective study compares mental health before and after exposure
to direct political violence during the People's War in Nepal.
An adult cohort completed the Beck Depression Inventory and Beck Anxiety
Inventory in 2000 prior to conflict violence in their community and in
2007 after the war.
Of the original 316 participants, 298 (94%) participated in the
post-conflict assessment. Depression increased from 30.9 to 40.6%.
Anxiety increased from 26.2 to 47.7%. Post-conflict post-traumatic stress
disorder (PTSD) was 14.1%. Controlling for ageing, the depression
increase was not significant. The anxiety increase showed a dose–response
association with conflict exposure when controlling for ageing and daily
stressors. No demographic group displayed unique vulnerability or
resilience to the effects of conflict exposure.
Conflict exposure should be considered in the context of other types of
psychiatric risk factors. Conflict exposure predicted increases in
anxiety whereas socioeconomic factors and non-conflict stressful life
events were the major predictors of depression. Research and
interventions in postconflict settings therefore should consider
differential trajectories for depression v. anxiety and
the importance of addressing chronic social problems ranging from poverty
to gender and ethnic/caste discrimination.
Long-term field experiments were conducted at Agra, Solapur and Hisar from 2000 to 2008 to identify efficient tillage and nutrient management practices and to develop predictive models that would describe the relationship between crop yields and monthly rainfall for rainfed pearl millet grown on arid and semi-arid Inceptisol, Vertisol and Aridisol soils. Nine treatments comprising a factorial combination of three tillage practices, viz., conventional tillage (CT), low tillage + interculture (LT1) and low tillage + herbicide (LT2) and three fertilizer treatments viz., 100% N from an organic source (F1), 50% organic N + 50% inorganic N (F2) and 100% inorganic N (F3) were tested in a split-plot design at the three locations. Studies revealed that tillage and fertilizer treatments, and their interactions, significantly influenced pearl millet grain yields at the three locations. Prediction models describing the relation between grain yield and monthly rainfall indicated that rainfall occurring in June, July and August at Agra; June and July at Solapur; and June and August at Hisar significantly influenced pearl millet grain yield attained by different treatments. The R2 values of the model ranged from 0.64 to 0.81 at Agra; 0.63 to 0.92 at Solapur, and 0.75 to 0.89 at Hisar. When averaged over all the treatment combinations, mean pearl millet grain yields varied from 1590 to 1744 kg ha−1 at Agra; 1424 to 1786 kg ha−1 at Solapur; and 1675 to 1766 kg ha−1 at Hisar while their corresponding sustainability yield indice (SYI) varied from 35.4 to 42.2%, 19.9 to 45.6% and 64.1 to 68.3%, respectively. At Agra (Inceptisol), CTF3 resulted in significantly higher mean net returns (Rs 11 439 ha−1), benefit-cost ratio (2.33), rainwater use efficiency (RWUE) (3.52 kg ha−1 mm−1) and the second best SYI (39.9%). At Solapur (Vertisol), the LT1F3 resulted in significantly higher net returns (Rs 12 818 ha−1), benefit-cost ratio (3.52), RWUE (3.89 kg ha−1 mm−1) and the fourth best SYI (42.6%). At Hisar (Aridisol), the LT1F3 treatment gave higher net returns (Rs 3866 ha−1), benefit-cost ratio (1.26), RWUE (5.05 kg ha−1 mm−1) and the fourth best SYI (67.8%). These treatment combinations can be recommended for their respective locations to achieve maximum RWUE, productivity and profitability.
Independent outbreaks of dengue virus (DENV) infection and sporadic cases of chikungunya virus (CHIKV) have been recorded in the metropolitan city of Delhi on several occasions in the past. However, during a recent 2010 arboviral outbreak in Delhi many cases turned negative for DENV. This prompted us to use duplex reverse transcriptase–polymerase chain reaction (D-RT–PCR) to establish the aetiology of dengue/chikungunya through sequencing of CprM and E1 genes of dengue and chikungunya viruses. Interestingly, for the first time, both DENV and CHIKV co-circulated simultaneously and in equally dominant proportion during the post-monsoon period of 2010. DENV-1 genotype III and the East Central South African genotype of CHIKV were associated with post-monsoon spread of these viruses.
Early vigour in wheat (Triticum aestivum) is an important physiological trait to improve water-use efficiency and grain yield, especially on light soils in Mediterranean-type climates. Potential interactions for plant stand and seedling vigour between seed density and various seed quality treatments were examined for wheat grown in two experiments, conducted under controlled and field environments in Western Australia. Seed lots were graded into seed size classes and seed density fractions using saturated solutions of ammonium sulphate or sodium polytungstate. Dense seed improved plant stands or produced seedlings with greater early seedling vigour than their low-density counterparts in all three field environments. Artificial ageing reduced germination and emergence in the controlled environment. When grown in the field at Merredin, Western Australia, on the sandy soil, plant development was delayed with aged seed, and total leaf area and dry weight of plants were reduced. Fungicide application diminished total plant dry weight in sandy soils, but had a much larger detrimental effect when applied to aged and low-density seeds than normal seeds, retarding development, total leaf area and total plant dry weight. Our results indicate that an increase in seed density, particularly in small seed, can potentially improve plant stand and seedling vigour independently of seed size, and may be especially important for wheat grown on sandy soils of poor fertility and low water-holding capacity. The results also suggest consistency in seedling vigour may benefit from combined screening against small seed size and low seed density, which may also reduce the likelihood of adverse reactions to seed-applied fungicides. More attention should be paid to seed density as a valuable trait for improved reliability in plant stand and seedling vigour.