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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.
Propagation of a strong incident shock through a bed of particles results in complex wave dynamics such as a reflected shock, a transmitted shock, and highly unsteady flow inside the particle bed. In this paper we present three-dimensional numerical simulations of shock propagation in air over a random bed of particles. We assume the flow is inviscid and governed by the Euler equations of gas dynamics. Simulations are carried out by varying the volume fraction of the particle bed at a fixed shock Mach number. We compute the unsteady inviscid streamwise and transverse drag coefficients as a function of time for each particle in the random bed for different volume fractions. We show that (i) there are significant variations in the peak drag for the particles in the bed, (ii) the mean peak drag as a function of streamwise distance through the bed decreases with a slope that increases as the volume fraction increases, and (iii) the deviation from the mean peak drag does not correlate with local volume fraction. We also present the local Mach number and pressure contours for the different volume fractions to explain the various observed complex physical mechanisms occurring during the shock–particle interactions. Since the shock interaction with the random bed of particles leads to transmitted and reflected waves, we compute the average flow properties to characterize the strength of the transmitted and reflected shock waves and quantify the energy dissipation inside the particle bed. Finally, to better understand the complex wave dynamics in a random bed, we consider a simpler approximation of a planar shock propagating in a duct with a sudden area change. We obtain Riemann solutions to this problem, which are used to compare with fully resolved numerical simulations.
Central nervous system infections (CNSI) are a leading cause of death and long-term disability in children. Using ICD-10 data from 2005 to 2015 from three central hospitals in Ho Chi Minh City (HCMC), Vietnam, we exploited generalized additive mixed models (GAMM) to examine the spatial-temporal distribution and spatial and climatic risk factors of paediatric CNSI, excluding tuberculous meningitis, in this setting. From 2005 to 2015, there were 9469 cases of paediatric CNSI; 33% were ⩽1 year old at admission and were mainly diagnosed with presumed bacterial CNSI (BI) (79%), the remainder were >1 year old and mainly diagnosed with presumed non-bacterial CNSI (non-BI) (59%). The urban districts of HCMC in proximity to the hospitals as well as some outer districts had the highest incidences of BI and non-BI; BI incidence was higher in the dry season. Monthly BI incidence exhibited a significant decreasing trend over the study. Both BI and non-BI were significantly associated with lags in monthly average temperature, rainfall, and river water level. Our findings add new insights into this important group of infections in Vietnam, and highlight where resources for the prevention and control of paediatric CNSI should be allocated.
To assess cardiac functions in adenotonsillar or tonsillar hypertrophy.
A prospective, interventional, academic centre based study was conducted on 25 children with adenotonsillar or tonsillar hypertrophy. All patients underwent pulsed 2-dimensional Doppler echocardiography, pulse oximetry and 12-lead electrocardiography. These assessments were repeated three months later to determine the impact of adenotonsillectomy.
There were significant differences in mean arterial oxygen saturation, pulmonary flow acceleration time and mean pulmonary artery pressure post-operatively. Adenotonsillectomy led to significant improvements in pulmonary flow acceleration time and pulmonary flow velocity time index, while tonsillectomy resulted in right ventricular early and late diastolic velocity index improvement.
Upper airway obstruction in children affects cardiac functioning and this can subsequently lead to morbidity and delayed growth. Hence, revision of surgical indications is advocated in adenotonsillar hypertrophy to avoid irreversible damage to cardiopulmonary functions.
Wildlife attacks on people in and around protected areas have become one of the main challenges for wildlife management authorities. We assessed all correlates of wildlife attacks during 2003–2013 in the vicinity of Chitwan National Park, Nepal. We used data from various sources (discussion with stakeholders, field observations, questionnaire surveys). Wildlife attacks were significantly correlated to factors such as site, season and time, activity, gender and awareness. Moreover, 89% of recorded attacks occurred outside the Park. The number of attacks fluctuated widely and patterns of attacks were significantly uneven across seasons and months. Of the 87% of attacks that occurred during the day, 63% occurred in the morning. Most victims were male and c. 45% of attacks occurred when people were collecting forest resources or working on croplands. Attacks were carried out predominantly by rhinoceros Rhinoceros unicornis (38%), tigers Panthera tigris (21%), sloth bears Melursus ursinus (18%), elephants Elephas maximus (9%) and wild boar Sus scrofa (8%). The people attacked lived close to the Park, depended on farming for their livelihoods, and had little knowledge of animal behaviour. Attacks can be mitigated through proper management of habitats inside the Park and raising awareness of wildlife behaviour among local people. We recommend establishing a participatory emergency rescue team to deal with problematic animals in high-risk areas.
To develop and validate a photographic food atlas of common foods for dietary assessment in southern Nepal.
We created a life-sized photographic atlas of forty locally prepared foods. Between March and June 2014, data collectors weighed portion sizes that respondents consumed during one mealtime and then a different data collector revisited the household the next day to record respondents’ estimations of their previous day’s intakes using the atlas. Validity was assessed by percentage error, Cohen’s weighted kappa (κw) and Bland–Altman limits of agreement.
Dhanusha and Mahottari districts in southern Nepal.
A random sample of ninety-five adults in forty-eight rural households with a pregnant woman.
Overall, respondents underestimated their intakes (mean error =−4·5 %). Rice and dal (spiced lentil soup) intakes were underestimated (−14·1 % and −34·5 %, respectively), but vegetable curry intake was overestimated (+20·8 %). Rice and vegetable curry portion size images were significantly reliably selected (Cohen’s κw (se): rice=0·391 (0·105); vegetable curry=0·430 (0·139)), whereas dal images were not. Energy intake over one mealtime was under-reported by an average of 569 kJ (136 kcal; 4·5 % error) using recall compared with the weighing method.
The photographic atlas is a useful tool for field estimation of dietary intake. Average errors were low, and there was ‘modest’ agreement between weighed and recalled portion size image selection of rice and vegetable curry food items. Error in energy estimation was low but with wide limits of agreement, suggesting that there is scope for future work to reduce error further.
Addition of antibiotics to artificial diets of insects is a key component in the rearing of insects in the laboratory. In the present study an antimicrobial agent, streptomycin sulphate was tested for its influence on survival and fitness of Spodoptera litura (Fabricus) (Lepidoptera: Noctuidae) as well as its gut microbial diversity. The antibiotic did not adversely affect the survival of S. litura. Faster growth of larvae was recorded on diet amended with different concentrations of streptomycin sulphate (0.03, 0.07 and 0.15%) as compared to diet without streptomycin sulphate. The overall activity of various digestives enzymes increased on S+ diet while the activity of detoxifying enzymes significantly decreased. In addition, alteration in microbial diversity was found in the gut of S. litura larvae fed on diet supplemented with antibiotic (S+) and without antibiotic (S−).
Increasing evidence supports the concept that early-life environmental influences, including nutrition and stress, have an impact on long-term health outcomes and disease susceptibility. The objective of the present study was to determine whether dietary spray-dried plasma (SDP), fed during the first 2 weeks post-weaning (PW), influences subsequent immunological and intestinal injury responses to Salmonellatyphimurium challenge. A total of thirty-two piglets (age 16–17 d) were weaned onto nursery diets containing 0, 2·5 % SDP (fed for 7 d PW) or 5 % SDP (fed for 14 d PW), and were then fed control diets (without SDP), for the remainder of the experiment. At 34 d PW (age 50 d), pigs were challenged with 3 × 109 colony-forming units of S. typhimurium. A control group (non-challenged) that was fed 0 % SDP in the nursery was included. At 2 d post-challenge, the distal ileum was harvested for the measurement of inflammatory, histological and intestinal physiological parameters. S. typhimurium challenge induced elevated ileal histological scores, myeloperoxidase (MPO), IL-8 and TNF, and increased intestinal permeability (indicated by reduced transepithelial voltage (potential difference) and elevated 4 kDa fluorescein isothiocyanate dextran (FD4) flux rates). Compared with S.typhimurium-challenged controls (0 % SDP), pigs fed the 5 % SDP-14 d diet exhibited reduced ileal histological scores, MPO levels, IL-8 levels and FD4 flux rates. Pigs fed the 5 % SDP-14 d nursery diet exhibited increased levels of plasma and ileal TNF-α in response to the challenge, compared with the other treatments. These results indicate that inclusion of SDP in PW diets can have an influence on subsequent immunological and intestinal injury responses induced by later-life S.typhimurium challenge.
The West Virginia University Hot hELIcon eXperiment (HELIX) provides variable density and ion temperature plasmas, with controllable levels of thermal anisotropy, for space relevant laboratory experiments in the Large Experiment on Instabilities and Anisotropy (LEIA) as well as fundamental studies of helicon source physics in HELIX. Through auxiliary ion heating, the ion temperature anisotropy (T⊥/T∥) is variable from 1 to 20 for parallel plasma beta (β = 8πnkTi∥/B2) values that span the range of 0.0001 to 0.01 in LEIA. The ion velocity distribution function is measured throughout the discharge volume in steady-state and pulsed plasmas with laser induced fluorescence (LIF). The wavelengths of very short wavelength electrostatic fluctuations are measured with a coherent microwave scattering system. Operating at low neutral pressures triggers spontaneous formation of a current-free electric double layer. Ion acceleration through the double layer is detected through LIF. LIF-based velocity space tomography of the accelerated beam provides a two-dimensional mapping of the bulk and beam ion distribution functions. The driving frequency for the m = 1 helical antenna is continuously variable from 8.5 to 16 MHz and frequency dependent variations of the RF coupling to the plasma allow the spontaneously appearing double layers to be turned on and off without modifying the plasma collisionality or magnetic field geometry. Single and multi-species plasmas are created with argon, helium, nitrogen, krypton, and xenon. The noble gas plasmas have steep neutral density gradients, with ionization levels reaching 100% in the core of the plasma source. The large plasma density in the source enables the study of Aflvén waves in the HELIX device.
Self–assembly of molecular building blocks provides an interesting route to produce well-defined chemical structures. Tailoring the functionalities on the building blocks and controlling the time of self-assembly could control the properties as well as the structure of the resultant patterns. Spontaneous self-assembly of biomolecules can generate bio-interfaces for myriad of potential applications. Here we report self-assembled patterning of human serum albumin (HSA) protein in to ring structures on a polyethylene glycol (PEG) modified gold surface. The structure of the self-assembled protein molecules and kinetics of structure formation entirely revolved around controlling the nucleation of the base layer. The formation of different sizes of ring patterns is attributed to growth conditions of the PEG islands for bio-conjugation. These assemblies might be beneficial in forming structurally ordered architectures of active proteins such as HSA or other globular proteins.
Marfan syndrome causes aortic dilation leading to dissection and death. This systematic review examined the use of beta-blockers, angiotensin-converting enzyme inhibitors, and angiotensin II receptor blockers in the management of aortic dilation in this disease.
We searched four databases – Medline, EMBASE, Web of Science, and The Cochrane Central Register of Controlled Trials – two conference proceedings, references of retrieved articles, and a web-based trial registry. The primary outcome was mortality. The secondary outcomes were aortic dissection, need for elective surgical repair, change in aortic dilation, and adverse events. Two reviewers selected studies, abstracted data, and assessed study quality. Meta-analyses were not performed because of study heterogeneity.
A total of 18 studies were included – 12 completed and six in progress. Of the completed studies, three before-and-after treatment, one prospective cohort, three retrospective cohorts, and two randomised control trials examined beta-blockers; one randomised and one non-randomised trial examined angiotensin-converting enzyme inhibitors; and one retrospective cohort study examined angiotensin II receptor blockers. Studies in progress are all randomised trials. Mortality was not impacted by drug therapy, although studies were underpowered with respect to this outcome. All drug classes were associated with a decrease in the rate of aortic dilation (angiotensin-converting enzyme inhibitors or angiotensin II receptor blockers >beta-blockers); none had an impact on other secondary outcomes.
On the basis of existing evidence, beta-blockers, angiotensin-converting enzyme inhibitors, and angiotensin II receptor blockers slow the progression of aortic dilation in Marfan syndrome. Angiotensin-converting enzyme inhibitors and angiotensin II receptor blockers may have more effect than beta-blockers; however, more methodologically rigorous studies currently in progress are needed to evaluate the impact of drug therapy on clinical outcomes.
In 1987, Gordon gave an integer primality condition similar to the familiar test based on Fermat’s little theorem, but based instead on the arithmetic of elliptic curves with complex multiplication. We prove the existence of infinitely many composite numbers simultaneously passing all elliptic curve primality tests assuming a weak form of a standard conjecture on the bound on the least prime in (special) arithmetic progressions. Our results are somewhat more general than both the 1999 dissertation of the first author (written under the direction of the third author) and a 2010 paper on Carmichael numbers in a residue class written by Banks and the second author.
To evaluate the effect of different lipid fractions on auditory brainstem evoked responses in hyperlipidaemia.
We conducted a single institution (medical college), prospective, cross-sectional study of 25 hyperlipidaemic patients and 25 normolipidaemic controls, all with a normal hearing threshold on pure tone audiometry. Brainstem evoked response audiometry results were recorded in both groups. The hyperlipidaemic group were further divided into two subgroups, based on the serum value of each lipid fraction: those with less than and those with greater than the mean serum value. These two subgroups were further compared with the control group.
The hyperlipidaemic and normolipidaemic groups had statistically significant differences for all audiometry waves apart from the wave I and the III–V interpeak latencies. The subgroups had a statistically significant difference in brainstem evoked responses. We found a statistically significant association between low-density lipoproteins and many waveforms in the hyperlipidaemic group.
We found that low-density lipoproteins were significantly associated with many waveforms in hyperlipidaemic patients. Thus, low-density lipoproteins may be important in auditory dysfunction.
Basic emergency care at primary, secondary and tertiary health care level in India is in its infancy. Lack of training in emergency care is an important factor. We designed AIIMS basic emergency care course (AIIMS BECC) to address the issue.
To improve the knowledge, skill and attitude of healthcare workers and laypersons in basic emergency care and to identify and train instructors.
Prospective study conducted over a period of one and half years. The target groups were medical, police, fire fighter, paramilitary forces, teachers, school children of India. Provider AIIMS BECC is of one day duration. The contents of the course are cardio-pulmonary resuscitation, chocking and special scenarios like trauma, electrocution, drowning, hypothermia, pregnancy, etc. Course was disseminated via lectures, audio-visual and hands on training. The participants were evaluated by pre and post test questions. Subjects had to score 80% to be successful and those who scored more than 90% were eligible for instructor course. The confidence levels at baseline and at the end of the course were evaluated in policecourses were evaluated on course clarity, course delivery and trainers quality on a likert scale (1 = worst, 5 = excellent).
1614 subjects were trained. 99.81% became providers and 2.6% were trained as instructors. 83.1% were non-medical and16.9% were medical personals. 76.14% were police, paramilitary 0.8%, teachers 1.6%, students 2.1% and mixed groups were 2.6%. The average and modal increase in confidence level among police were 66.14% and 62.49%. Likert scale of ≥ 4 was observed in 90.7% in course clarity, 91.28% in course delivery and 95.26% in trainer quality.
Knowledge, skill and attitude of healthcare care and laypersons in providing basic emergency care improved by community emergency care initiative. Instructors were identified for further dissemination of the course. The confidence levels increased among police.
To investigate the hypothesis of cochlear and retrocochlear damage in scrub typhus, using evoked response audiometry.
Prospective, randomised, case–control study.
The study included 25 patients with scrub typhus and 25 controls with other febrile illnesses not known to cause hearing loss. Controls were age- and sex-matched. All subjects underwent pure tone audiometry and evoked response audiometry before commencing treatment.
Six patients presented with hearing loss, although a total of 23 patients had evidence of symmetrical high frequency loss on pure tone audiometry. Evoked response audiometry found significant prolongation of absolute latencies of wave I, III, V, and wave I–III interpeak latency. Two cases with normal hearing had increased interpeak latencies. These findings constitute level 3b evidence.
Findings were suggestive of retrocochlear pathology in two cases with normal hearing. In other patients, high frequency hearing loss may have led to altered evoked response results. Although scrub typhus appears to cause middle ear cochlear and retrocochlear damage, the presence of such damage could not be fully confirmed by evoked response audiometry.
Rapid isothermal processing (RIP) based on incoherent radiation as the source of energy is emerging as a practical alternative to furnace processing. In this paper, we show that in addition to the well established short time processing feature, RIP can also be used as a reduced substrate temperature processing technique.
Planar strain in CaF2 and Ge/CaF2 films grown on (111) Si substrate has been measured by an x-ray double crystal diffraction technique using rocking curves. The films grown by a solid phase epitaxial approach using in situ rapid isothermal processing are found to have small tensile planar strain.
As compared to a stand alone rapid isothermal annealing unit, the integration of deposition system and rapid isothermal processing unit is very attractive for the next generation of micro, opto and cryoelectronics. We have used in-situ rapid isothermal processor for in-situ rapid isothermal chemical cleaning of InP, solid phase epitaxial growth of II-A fluorides, and in-situ metallization of InP capacitors. As compared to ex-situ annealed films, SrF2 films deposited on InP by in-situ rapid isothermal processed films show less thermal stress and lower thermal hysteresis for the identical thermal budget. Similarly, as compared to ex-situ annealing, in-situ cleaning of InP before metallization followed by in-situ annealing results into improved high frequency capacitance-voltage (C-V) characteristics of Al-SrF2-InP capacitors.
There are fundamental differences between conventional furnace processing (CFP) and rapid isothermal processing (RIP). The radiation spectrum of a conventional furnace consists of photons in the infrared and longer wavelength regions, whereas the spectrum of the incoherent light sources used in RIP consist of some ultraviolet, visible, and infrared photons. As compared to CFP, the photophysical and photochemical effects associated with RIP provide the capability of lower temperature processing. Due to photoeffects in RIP, differences are observed in junction movement and defect evolution with different lamp configurations and different kinds of lamps having differing spectra. This implies that diffusion models, in addition to considering processing time and temperature, should also account for the lamp configurations and spectra of the heating sources. The fundamental understanding of photoeffects in RIP can be further exploited to reduce the overall thermal budget used in the manufacturing of semiconductor devices. In this paper we present our study of photoeffects in RIP, which can be of help in the design of the next generation of RIP equipment.