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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.
All accredited cancer institutions are required to screen patients for psychosocial distress. This paper describes the development, implementation, and preliminary outcomes of the University of California San Diego Health Moores Cancer Center Wellbeing Screening Program.
Essential steps learned in a formal National Cancer Institute–funded training workshop entitled “Implementing Comprehensive Biopsychosocial Screening” were followed to ensure successful program implementation. These steps included identification of stakeholders; formation of a working committee; establishment of a vision, process, and implementation timeline; creation of a screening tool; development of patient educational material; tool integration into an electronic medical record system; staff training and pilot testing of tool administration; and education about tool results and appropriate follow-up actions. Screening data were collected and analyzed retrospectively for preliminary results and rapid cycle improvement of the wellbeing screening process.
Over an 8-month implementation and assessment period, the screening tool was administered 5,610 times of 7,664 expected administrations (73.2%.) to 2,394 unique patients. Visits in which the questionnaire was administered averaged 39.6 ± 14.8 minutes, compared with 40.3 ± 15.2 minutes for visits in which the questionnaire was not administered (t = −1.76, df = 7,662, p = 0.079).
Significance of results
This program provides a process and a tool for successful implementation of distress screening in cancer centers, in a meaningful way for patients and providers, while meeting accreditation standards. Further, meaningful data about patient distress and tool performance were able to be collected and utilized.
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.
We sought to comprehensively assess the prevalence and outcomes of complications associated with Staphylococcus aureus bacteremia (SAB) in children. Secondarily, prevalence of methicillin resistance and outcomes of complications from methicillin-resistant S. aureus (MRSA) vs. methicillin-susceptible S. aureus SAB were assessed. This is a single-center cross-sectional study of 376 patients ⩽18 years old with SAB in 1990–2014. Overall, 197 (52%) patients experienced complications, the most common being osteomyelitis (33%), skin and soft tissue infection (31%), and pneumonia (25%). Patients with complications were older (median 3 vs. 0·7 years, P = 0·05) and more had community-associated SAB (66% vs. 34%, P = 0·001). Fewer patients with complications had a SAB-related emergency department or hospital readmission (10% vs. 19%, P = 0·014). Prevalence of methicillin resistance increased from 1990–1999 to 2000–2009, but decreased in 2010–2014. Complicated MRSA bacteremia resulted in more intensive care unit admissions (66% vs. 47%, P = 0·03) and led to increased likelihood of having ⩾2 foci (58% vs. 26%, P < 0·001). From multivariate analysis, community-associated SAB increased risk and concurrent infections decreased risk of complications (odds ratio (OR) 1·82 (1·1–3·02), P = 0·021) and (OR 0·58 (0·34–0·97), P = 0·038), respectively. In conclusion, children with SAB should be carefully evaluated for complications. Methicillin resistance remains associated with poor outcomes but have decreased in overall prevalence.
The objective of this study was to determine whether hatha yoga is an efficacious adjunctive intervention for individuals with continued depressive symptoms despite antidepressant treatment.
We conducted a randomized controlled trial of weekly yoga classes (n = 63) v. health education classes (Healthy Living Workshop; HLW; n = 59) in individuals with elevated depression symptoms and antidepressant medication use. HLW served as an attention-control group. The intervention period was 10 weeks, with follow-up assessments 3 and 6 months afterwards. The primary outcome was depression symptom severity assessed by blind rater at 10 weeks. Secondary outcomes included depression symptoms over the entire intervention and follow-up periods, social and role functioning, general health perceptions, pain, and physical functioning.
At 10 weeks, we did not find a statistically significant difference between groups in depression symptoms (b = −0.82, s.e. = 0.88, p = 0.36). However, over the entire intervention and follow-up period, when controlling for baseline, yoga participants showed lower levels of depression than HLW participants (b = −1.38, s.e. = 0.57, p = 0.02). At 6-month follow-up, 51% of yoga participants demonstrated a response (⩾50% reduction in depression symptoms) compared with 31% of HLW participants (odds ratio = 2.31; p = 0.04). Yoga participants showed significantly better social and role functioning and general health perceptions over time.
Although we did not see a difference in depression symptoms at the end of the intervention period, yoga participants showed fewer depression symptoms over the entire follow-up period. Benefits of yoga may accumulate over time.
Novel free boundary magnetohydrodynamic equilibrium states with spontaneous three-dimensional (3-D) deformations of the plasma–vacuum interface are computed. The structures obtained look like saturated ideal external kink/peeling modes. Large edge pressure gradients yield toroidal mode number
distortions when the edge bootstrap current is large and higher
corrugations when this current is small. Linear ideal MHD stability analyses confirm the nonlinear saturated ideal kink equilibrium states produced and we can identify the Pfirsch–Schlüter current as the main linear instability driving mechanism when the edge pressure gradient is large. The dominant non-axisymmetric component of this Pfirsch–Schlüter current drives a near resonant helical parallel current density ribbon that aligns with the near vanishing magnetic shear region caused by the edge bootstrap current. This current ribbon is a manifestation of the outer mode previously found on JET (Solano 2010). We claim that the equilibrium corrugations describe structures that are commonly observed in quiescent H-mode tokamak discharges.
Information about viral acute respiratory infections (ARIs) is essential for prevention, diagnosis and treatment, but it is limited in tropical developing countries. This study described the clinical and epidemiological characteristics of ARIs in children hospitalized in Vietnam. Nasopharyngeal samples were collected from children with ARIs at Ho Chi Minh City Children's Hospital 2 between April 2010 and May 2011 in order to detect respiratory viruses by polymerase chain reaction. Viruses were found in 64% of 1082 patients, with 12% being co-infections. The leading detected viruses were human rhinovirus (HRV; 30%), respiratory syncytial virus (RSV; 23·8%), and human bocavirus (HBoV; 7·2%). HRV was detected all year round, while RSV epidemics occurred mainly in the rainy season. Influenza A (FluA) was found in both seasons. The other viruses were predominant in the dry season. HRV was identified in children of all age groups. RSV, parainfluenza virus (PIV) 1, PIV3 and HBoV, and FluA were detected predominantly in children aged <6 months, 6–12 months, 12–24 months, and >24 months, respectively. Significant associations were found between PIV1 with croup (P < 0·005) and RSV with bronchiolitis (P < 0·005). HBoV and HRV were associated with hypoxia (P < 0·05) and RSV with retraction (P < 0·05). HRV, RSV, and HBoV were detected most frequently and they may increase the severity of ARIs in children.
Molecular epidemiology and clinical impact of human rhinovirus (HRV) are not well documented in tropical regions. This study compared the clinical characteristics of HRV to other common viral infections and investigated the molecular epidemiology of HRV in hospitalized children with acute respiratory infections (ARIs) in Vietnam. From April 2010 to May 2011, 1082 nasopharyngeal swabs were screened for respiratory viruses by PCR. VP4/VP2 sequences of HRV were further characterized. HRV was the most commonly detected virus (30%), in which 70% were diagnosed as either pneumonia or bronchiolitis. Children with single HRV infections presented with significantly higher rate of hypoxia than those infected with respiratory syncytial virus or parainfluenza virus (PIV)-3 (12·4% vs. 3·8% and 0%, respectively, P < 0·05), higher rate of chest retraction than PIV-1 (57·3% vs. 34·5%, P = 0·028), higher rate of wheezing than influenza A (63·2% vs. 42·3%, P = 0·038). HRV-C did not differ to HRV-A clinically. The genetic diversity and changes of types over time were observed and may explain the year-round circulation of HRV. One novel HRV-A type was discovered which circulated locally for several years. In conclusion, HRV showed high genetic diversity and was associated with significant morbidity and severe ARIs in hospitalized children.
Phosphorus is incorporated into single crystal diamond during epitaxial growth at higher concentrations on the (111) crystallographic surface than on the (001) crystallographic surface. To form n+-type regions in diamond for semiconductor devices it is beneficial to deposit on the (111) surface. However, diamond deposition is faster and of higher quality on the (001) surface. A preferential etch method is described that forms inverted pyramids on the (001) surface of a substrate diamond crystal, which opens (111) faces for improved phosphorus incorporation. The preferential etching occurs on the surface in regions where a nickel film is deposited. The etching is performed in a microwave generated hydrogen plasma operating at 160 Torr with the substrate temperature in the range of 800-950 °C. The epitaxial growth of diamond with high phosphorus concentrations exceeding 1020 cm-3 is performed using a microwave plasma-assisted chemical vapor deposition process. Successful growth conditions were achieved with a feedgas mixture of 0.25% methane, 500 ppm phosphine and hydrogen at a pressure of 160 Torr and a substrate temperature of 950-1000°C. The room temperature resistivity of the phosphorus-doped diamond is 120-150 Ω-cm and the activation energy is 0.027 eV.
In the past year, several organizations have fabricated reliable, high-brightness LEDs from III-Nitride materials that emit in the blue and green. Recently, Nichia in Japan have announced lasing action in GaN-based diodes. Quantum well structures are key to all these results, offering higher brightness, narrower EL linewidths, and a wider spectral range. In order for the III-Nitride technology to develop, the material growth technique must offer high volume at low cost in addition to the requisite device performance. To date, only MOVPE has demonstrated this capability. We have previously reported the growth of GaN, InGaN, and AlGaN layers by MOVPE in a multi-wafer, high-speed rotating disk reactor. Both n- and p-doping and high quality optical properties have been achieved. In this paper we extend this earlier work and present results of the performance of InGaN / (Al)GaN quantum well structures. Intense PL spectra were observed in the violet and blue regions. The thinnest wells show evidence from PL and DCXRD measurments of either discontinuous layers (islands) or a diffuse upper interface, with preliminary TEM results showing the latter to be the most likely. We also report excellent uniformity of these quantum well structures, and show electroluminescence from a SQW diode emitting at 473 nm.
Seasonal as well as weekly cycles in suicide have been described, replicated and poorly understood for a long time. In Western countries, suicides are typically least frequent on weekends and most frequent on Mondays and Tuesdays. To improve understanding of this phenomenon a strategy is required which focuses on anomalous findings beyond the regular patterns. Here, we focused on instances where the weekly suicide patterns disappear or are interrupted.
We used data from Swiss and Austrian mortality statistics for the periods 1969–2010 and 1970–2010, respectively. First, the data were cross-tabulated by days of the week and the available socio-demographic information (sex, age, religious affiliation and region). Second, time series of cumulated daily frequencies of suicide were analysed by seasonal Autoregressive Integrated Moving Average (ARIMA) models which included intervention effects accounting for Easter and Pentecost (Whit) holidays.
First, the cross tabulations showed that weekly cycles may be smoothed above all in young persons and smoothed in drowning, jumping and car gas exhaustion suicides. Second, the ARIMA analyses displayed occasional preventive effects for holidays Saturdays and Sundays, and more systematic effects for holiday Mondays. There were no after effects on Tuesdays following holiday Mondays.
In general, the weekend dip and the Monday backlog effect in suicide show striking similarities to the Advent season effect and are interpretable within the same template. The turning points between low and high frequencies possibly provide promising frames for the timing of prevention activities.
To determine whether increases in contact isolation precautions are associated with decreased adherence to isolation practices among healthcare workers (HCWs).
Prospective cohort study from February 2009 to October 2009.
Eleven teaching hospitals.
One thousand thirteen observations conducted on HCWs. Additional data included the number of persons in isolation, types of HCWs, and hospital-specific contact precaution practices. Main outcome measures included compliance with individual components of contact isolation precautions (hand hygiene before and after patient encounter, donning of gown and glove upon entering a patient room, and doffing upon exiting) and overall compliance (all 5 measures together) during varying burdens of isolation.
Compliance with hand hygiene was as follows: prior to donning gowns/gloves, 37.2%; gowning, 74.3%; gloving, 80.1%; doffing of gowns/gloves, 80.1%; after gown/glove removal, 61%. Compliance with all components was 28.9%. As the burden of isolation increased (20% or less to greater than 60%), a decrease in compliance with hand hygiene (43.6%—4.9%) and with all 5 components (31.5%—6.5%) was observed. In multivariable analysis, there was an increase in noncompliance with all 5 components of the contact isolation precautions bundle (odds ratio [OR], 6.6 [95% confidence interval (CI), 1.15-37.44]; P = .03) and in noncompliance with hand hygiene prior to donning gowns and gloves (OR, 10.1 [95% CI, 1.84—55.54]; P = .008) associated with increasing burden of isolation.
As the proportion of patients in contact isolation increases, compliance with contact isolation precautions decreases. Placing 40% of patients under contact precautions represents a tipping point for noncompliance with contact isolation precautions measures.
Fundamental aspects of (electro-)luminescence of Cu(In,Ga)Se2 solar cells and modules are investigated by means of spectrally and spatially resolved measurements. The validity of the reciprocity relation between spectrally resolved electroluminescence emission and photovoltaic quantum efficiency is verified for the case of industrially produced ZnO/CdS/Cu(In,Ga)Se2 heterojunction solar cells. Further we find that photo- and electroluminescent emission in these devices obey a superposition principle only in a limited range of the applied electrical or illumination bias. This range depends on the light soaking history of the sample and extends up to an injected current density of approximately 15 mAcm-2 after 3 h of light soaking at a temperature of 400 K. In the state prior to light soaking this range is limited to 4 mAcm-2. At higher bias, a characteristic discrepancy between electroluminescence and electro-modulated photoluminescence appears. We attribute this anomaly to a potential barrier behavior close to the CdS/ Cu(In,Ga)Se2 interface. Metastable defect reactions induced by holes injected into the space charge region partly reduce this barrier. We further find that the luminescence efficiency is enhanced by a factor of 3 by light soaking at 400 K. Spatially resolved electroluminescence measurements conducted during application of voltage or current bias at ambient temperature in the dark are qualitatively compatible with the conclusions drawn from the spectrally resolved measurements.
In this contribution, we show that the dominant electroluminescent emission of hydrogenated amorphous silicon (a-Si:H) thin-film solar cells follows a diode law, whose radiative ideality factor nr is larger than one. This is in contrast to crystalline silicon and Cu(In, Ga)Se2 solar cells for which nr equals one. As a consequence, the existing quantitative analysis for the extraction of the local junction voltage Vj(r) from luminescence images fails for a-Si:H solar cells. We expand the existing analysis method, and include the radiative ideality factor nr into the model. With this modification, we are able to determine the local junction voltage Vj(r) for a-Si:H solar cells and modules. We investigated the local junction voltage Vj(r) and the radiative ideality factor nr for both initial and stabilized a-Si:H solar modules. Furthermore, we show that the apparent radiative ideality factor is affected by the spectral sensitivity of the used camera system.
Non-typhoidal Salmonella are an important but poorly characterized cause of paediatric diarrhoea in developing countries. We conducted a hospital-based case-control study in children aged <5 years in Ho Chi Minh City to define the epidemiology and examine risk factors associated with Salmonella diarrhoeal infections. From 1419 diarrhoea cases and 571 controls enrolled between 2009 and 2010, 77 (5·4%) diarrhoea cases were stool culture-positive for non-typhoidal Salmonella. Salmonella patients were more likely to be younger than controls (median age 10 and 12 months, respectively) [odds ratio (OR) 0·97; 95% confidence interval (CI) 0·94–0·99], to report a recent diarrhoeal contact (8·1% cases, 1·8% controls; OR 5·98, 95% CI 1·8–20·4) and to live in a household with >2 children (cases 20·8%, controls 10·2%; OR 2·32, 95% CI 1·2–4·7). Our findings indicate that Salmonella are an important cause of paediatric gastroenteritis in this setting and we suggest that transmission may occur through direct human contact in the home.
Localized vibrational modes of carbon-hydrogen complexes in metalorganic chemical vapor deposition grown GaN on sapphire were studied using a Fourier-transform infrared spectroscopy technique. Three distinctive localized vibrational modes were observed around 2850, 2922, and 2959 cm−1 for undoped, Si- and Mg-doped samples. These peaks are related to CH, CH2, and CH3 defect complexes, respectively. It is also observed that the frequencies and intensities of the localized vibrational modes are sample dependent.