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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.
This study evaluated tumour necrosis factor-α, interleukins 10 and 12, and interferon-γ levels, peripheral blood mononuclear cells, and clusters of differentiation 17c and 86 expression in unilateral sudden sensorineural hearing loss.
Twenty-four patients with unilateral sudden sensorineural hearing loss, and 24 individuals with normal hearing and no history of sudden sensorineural hearing loss (who were attending the clinic for other problems), were enrolled. Peripheral blood mononuclear cells, and clusters of differentiation 11c and 86 were isolated and analysed. Plasma and supernatant levels of tumour necrosis factor-α, interferon-γ, and interleukins 10 and 12 were measured.
There were no significant differences with respect to age and gender. Monocyte population, mean tumour necrosis factor-α level and cluster of differentiation 86 expression were significantly increased in the study group compared to the control group. However, interferon-γ and interleukin 12 levels were significantly decreased. The difference in mean interleukin 10 level was not significant.
Increases in tumour necrosis factor-α level and monocyte population might play critical roles in sudden sensorineural hearing loss. This warrants detailed investigation and further studies on the role of dendritic cells in sudden sensorineural hearing loss.
While studies suggest that nutritional supplementation may reduce aggressive behavior in children, few have examined their effects on specific forms of aggression. This study tests the primary hypothesis that omega-3 (ω-3), both alone and in conjunction with social skills training, will have particular post-treatment efficacy for reducing childhood reactive aggression relative to baseline.
In this randomized, double-blind, stratified, placebo-controlled, factorial trial, a clinical sample of 282 children with externalizing behavior aged 7–16 years was randomized into ω-3 only, social skills only, ω-3 + social skills, and placebo control groups. Treatment duration was 6 months. The primary outcome measure was reactive aggression collected at 0, 3, 6, 9, and 12 months, with antisocial behavior as a secondary outcome.
Children in the ω-3-only group showed a short-term reduction (at 3 and 6 months) in self-report reactive aggression, and also a short-term reduction in overall antisocial behavior. Sensitivity analyses and a robustness check replicated significant interaction effects. Effect sizes (d) were small, ranging from 0.17 to 0.31.
Findings provide some initial support for the efficacy of ω-3 in reducing reactive aggression over and above standard care (medication and parent training), but yield only preliminary and limited support for the efficacy of ω-3 in reducing overall externalizing behavior in children. Future studies could test further whether ω-3 shows promise in reducing more reactive, impulsive forms of aggression.
Little is known about the combined use of benzodiazepines and antidepressants in older psychiatric patients. This study examined the prescription pattern of concurrent benzodiazepines in older adults treated with antidepressants in Asia, and explored its demographic and clinical correlates.
The data of 955 older adults with any type of psychiatric disorders were extracted from the database of the Research on Asian Psychotropic Prescription Patterns for Antidepressants (REAP-AD) project. Demographic and clinical characteristics were recorded using a standardized protocol and data collection procedure. Both univariate and multiple logistic regression analyses were performed.
The proportion of benzodiazepine and antidepressant combination in this cohort was 44.3%. Multiple logistic regression analysis revealed that higher doses of antidepressants, younger age (<65 years), inpatients, public hospital, major comorbid medical conditions, antidepressant types, and country/territory were significantly associated with more frequent co-prescription of benzodiazepines and antidepressants.
Nearly, half of the older adults treated with antidepressants in Asia are prescribed concurrent benzodiazepines. Given the potentially adverse effects of benzodiazepines, the rationale of benzodiazepines and antidepressants co-prescription needs to be revisited.
Respiratory syncytial virus (RSV) can cause serious respiratory infections, second only to influenza virus. In order to know RSV's genetic changes we examined 4028 respiratory specimens from local hospital outpatients in Gyeonggi Province, South Korea over six consecutive years by real-time one-step RT–PCR; 183 patients were positive for RSV infection. To investigate the specific distribution of RSV genotypes, we performed partial sequencing of the glycoprotein gene. Of the 131 RSV-A specimens sequenced, 61 (43·3%) belonged to the ON1 genotype, 66 (46·8%) were NA1 genotype, 3 (2·1%) were GA5 genotype, and 1 (0·7%) belonged to the GA1 genotype. Of the 31 RSV-B specimens sequenced, 29 were BA9 genotype (87·9%) and 2 were BA10 genotype (6·1%). The most common clinical symptoms were fever, cough, nasal discharge, and phlegm; multiple logistic regression analysis showed that RSV-positive infection on pediatric patients was strongly associated with cough (OR = 2·8, 95% CI 1·6–5·1) and wheezing (OR = 2·8, 95% CI 1·7–4·4). The ON1 genotype was significantly associated with phlegm (OR = 11·8, 95% CI 3·8–46·7), while the NA1 genotype was associated with the pediatric patients’ gender (males, OR = 2·4, 95% CI 1·1–5·4) and presence of chills (OR = 5·1, 95% CI 1·1–27·2). RSV subgroup B was showed association with nasal obstruction (OR = 4·6, 95% CI 1·2–20·0). The majority of respiratory virus coinfections with RSV were human rhinovirus (47·2%). This study contributes to our understanding of the molecular epidemiological characteristics of RSV, which promotes the potential for improving RSV vaccines.
Whether monozygotic (MZ) and dizygotic (DZ) twins differ from each other in a variety of phenotypes is important for genetic twin modeling and for inferences made from twin studies in general. We analyzed whether there were differences in individual, maternal and paternal education between MZ and DZ twins in a large pooled dataset. Information was gathered on individual education for 218,362 adult twins from 27 twin cohorts (53% females; 39% MZ twins), and on maternal and paternal education for 147,315 and 143,056 twins respectively, from 28 twin cohorts (52% females; 38% MZ twins). Together, we had information on individual or parental education from 42 twin cohorts representing 19 countries. The original education classifications were transformed to education years and analyzed using linear regression models. Overall, MZ males had 0.26 (95% CI [0.21, 0.31]) years and MZ females 0.17 (95% CI [0.12, 0.21]) years longer education than DZ twins. The zygosity difference became smaller in more recent birth cohorts for both males and females. Parental education was somewhat longer for fathers of DZ twins in cohorts born in 1990–1999 (0.16 years, 95% CI [0.08, 0.25]) and 2000 or later (0.11 years, 95% CI [0.00, 0.22]), compared with fathers of MZ twins. The results show that the years of both individual and parental education are largely similar in MZ and DZ twins. We suggest that the socio-economic differences between MZ and DZ twins are so small that inferences based upon genetic modeling of twin data are not affected.
We report on the results of CCD photometric observations of the open cluster NGC 2539. Eight new variable stars have been found in the observed field of this cluster. However, no γ Doradus-type variability was found among the member stars.
We analyzed birth order differences in means and variances of height and body mass index (BMI) in monozygotic (MZ) and dizygotic (DZ) twins from infancy to old age. The data were derived from the international CODATwins database. The total number of height and BMI measures from 0.5 to 79.5 years of age was 397,466. As expected, first-born twins had greater birth weight than second-born twins. With respect to height, first-born twins were slightly taller than second-born twins in childhood. After adjusting the results for birth weight, the birth order differences decreased and were no longer statistically significant. First-born twins had greater BMI than the second-born twins over childhood and adolescence. After adjusting the results for birth weight, birth order was still associated with BMI until 12 years of age. No interaction effect between birth order and zygosity was found. Only limited evidence was found that birth order influenced variances of height or BMI. The results were similar among boys and girls and also in MZ and DZ twins. Overall, the differences in height and BMI between first- and second-born twins were modest even in early childhood, while adjustment for birth weight reduced the birth order differences but did not remove them for BMI.
An acute gastroenteritis (AGE) outbreak was reported in May 2013 in Gyeonggi Province, South Korea. Eight students who had eaten breakfast on 21 May 2013 at a high-school restaurant exhibited AGE symptoms. Our case-control study showed that a strong association was observed between AGE symptoms and fermented oyster consumption. Virological studies also indicated that noroviruses (NoVs) were detected from both clinical samples and fermented oyster samples, and multiple different genotypes (genogroups GII.4, GII.11 and GII.14) of NoVs were present in both samples. The nucleotide sequence similarity between the strains found in the clinical samples and those in the fermented oysters was more than 99·5%. Therefore, to prevent further outbreaks, proper management of raw oysters is necessary and the food industry should be aware of the risk of viral gastroenteritis posed by fermented oysters contaminated with NoVs.
A trend toward greater body size in dizygotic (DZ) than in monozygotic (MZ) twins has been suggested by some but not all studies, and this difference may also vary by age. We analyzed zygosity differences in mean values and variances of height and body mass index (BMI) among male and female twins from infancy to old age. Data were derived from an international database of 54 twin cohorts participating in the COllaborative project of Development of Anthropometrical measures in Twins (CODATwins), and included 842,951 height and BMI measurements from twins aged 1 to 102 years. The results showed that DZ twins were consistently taller than MZ twins, with differences of up to 2.0 cm in childhood and adolescence and up to 0.9 cm in adulthood. Similarly, a greater mean BMI of up to 0.3 kg/m2 in childhood and adolescence and up to 0.2 kg/m2 in adulthood was observed in DZ twins, although the pattern was less consistent. DZ twins presented up to 1.7% greater height and 1.9% greater BMI than MZ twins; these percentage differences were largest in middle and late childhood and decreased with age in both sexes. The variance of height was similar in MZ and DZ twins at most ages. In contrast, the variance of BMI was significantly higher in DZ than in MZ twins, particularly in childhood. In conclusion, DZ twins were generally taller and had greater BMI than MZ twins, but the differences decreased with age in both sexes.
For over 100 years, the genetics of human anthropometric traits has attracted scientific interest. In particular, height and body mass index (BMI, calculated as kg/m2) have been under intensive genetic research. However, it is still largely unknown whether and how heritability estimates vary between human populations. Opportunities to address this question have increased recently because of the establishment of many new twin cohorts and the increasing accumulation of data in established twin cohorts. We started a new research project to analyze systematically (1) the variation of heritability estimates of height, BMI and their trajectories over the life course between birth cohorts, ethnicities and countries, and (2) to study the effects of birth-related factors, education and smoking on these anthropometric traits and whether these effects vary between twin cohorts. We identified 67 twin projects, including both monozygotic (MZ) and dizygotic (DZ) twins, using various sources. We asked for individual level data on height and weight including repeated measurements, birth related traits, background variables, education and smoking. By the end of 2014, 48 projects participated. Together, we have 893,458 height and weight measures (52% females) from 434,723 twin individuals, including 201,192 complete twin pairs (40% monozygotic, 40% same-sex dizygotic and 20% opposite-sex dizygotic) representing 22 countries. This project demonstrates that large-scale international twin studies are feasible and can promote the use of existing data for novel research purposes.
Depression is common after acute coronary syndrome (ACS) with adverse effects on prognosis. There is little evidence on whether depression treatment improves quality of life (QoL) in ACS patients. The aim of this study was to investigate the effects of co-morbid depression and its treatment on QoL in ACS.
In total, 1152 patients were recruited at baseline, 2–14 weeks after a confirmed ACS episode, and 828 were followed 1 year thereafter. Of 446 baseline participants with co-morbid depressive disorders, 300 were randomized to a 24-week double blind trial of escitalopram or placebo, while the remaining 146 received medical treatment only (MTO). QoL was measured by the World Health Organization Quality of Life –Abbreviated form (WHOQOL-BREF).
At baseline, QoL was significantly lower in patients with co-morbid depressive disorder than those without. QoL improvement was significantly greater in those receiving escitalopram than those receiving placebo over the 24-week treatment period. In the 1-year follow-up, the better outcomes associated with escitalopram remained evident against both placebo and MTO.
Depression was significantly associated with worse QoL even in patients with recently developed ACS. Depression treatment was associated with QoL improvement in ACS patients in the 24-week treatment period, the effects of which extended to 1 year.
The B fields in OB stars (BOB) survey is an ESO large programme collecting spectropolarimetric observations for a large number of early-type stars in order to study the occurrence rate, properties, and ultimately the origin of magnetic fields in massive stars. As of July 2014, a total of 98 objects were observed over 20 nights with FORS2 and HARPSpol. Our preliminary results indicate that the fraction of magnetic OB stars with an organised, detectable field is low. This conclusion, now independently reached by two different surveys, has profound implications for any theoretical model attempting to explain the field formation in these objects. We discuss in this contribution some important issues addressed by our observations (e.g., the lower bound of the field strength) and the discovery of some remarkable objects.
The effect of interfacial phases on the electrical properties of Au/Ti/SiO2/InSb metal-insulator (oxide)-semiconductor (MIS or MOS) structures was investigated by capacitance-voltage (C-V) measurements. With increasing the deposition temperature of silicon oxide from 100 to 350°C using PECVD, the change in the interfacial phases between SiO2 and InSb were analyzed by resonant Raman spectroscopy to verify the relation between the breakdown of C-V characteristics and the change of interfacial phases. The shape of C-V characteristics was dramatically changed when the deposition temperature was above 300°C. The C-V measurements and Raman spectra represented that elemental Sb accumulation resulted from the chemical reaction of Sb oxide with InSb substrate was responsible for the failure in the C-V characteristics of MIS structure.
The Arabidopsis gene AVP1 encodes a vacuolar H+-translocating inorganic pyrophosphatase (enzyme classification (EC) 220.127.116.11) that functions as an electronic proton pump in the vacuolar membrane and affects growth development and the stress response in plants. The current study was conducted to evaluate the molecular properties of the Arabidopsis thaliana vacuolar H+-pyrophosphatase (AVP1) gene in rice (Oryza sativa L.). Incorporation and expression of the transgene was confirmed by semi-quantitative reverse-transcription polymerase chain reaction (RT-PCR) and quantitative real-time PCR. Expression of the AVP1 gene in transgenic rice plants (TRP1 and TRP2) resulted in a significantly enhanced tolerance to 5·8 g/l NaCl under greenhouse conditions when compared with the control wild-type (WT) rice plants. Augmented AVP1 expression in the transgenic rice plants (TRP) also affected total biomass and improved ion homoeostasis through increased accumulation of Na+ ions in whole tissues when compared with control WT rice plants under high salinity conditions. The photochemical yield (Fv/Fm) values of TRP were higher than those of the WT rice plants, even though the values decreased over time in both the WT and transgenic (TRP1 to TRP8) rice plants. Furthermore, rice grain yield and biomass of the TRP were at least 15% higher based on culm and root weights, and panicle and spikelet numbers when compared with those of the WT rice plants during the 2010 and 2010 growing seasons in South Korea. Thus, these results suggest that ectopic AVP1 expression conferred tolerance and stress resistance to genetically modified transgenic crop plants by improving cellular ion homoeostasis in response to saline conditions, which enhanced rice yield and biomass under natural conditions in paddy fields.
The surgical approaches previously reported for facial nerve decompression have focussed on achieving good exposure of the lateral or superior aspects of the geniculate ganglion. This report aims to describe a unique case of facial nerve decompression beneath the geniculate ganglion.
A 30-year-old woman with right-sided facial palsy due to a temporal bone fracture.
Bony fragments at the base of the geniculate ganglion were removed via a trans-tensor tympani approach with extended posterior tympanotomy.
The patient's facial movement recovered successfully, without complications such as sensorineural hearing loss and conductive hearing loss.
In rare cases requiring decompression of the facial nerve inferior to the perigeniculate area, the trans-tensor tympani approach should be considered as a valuable alternative option when surgical intervention is considered.
The thermoelectric properties of W-substituted CaMn1-xWxO3-δ (x = 0.01, 0.03; 0.05) samples, prepared by soft chemistry, were investigated from 300 K to 1000 K and compared to Nb-substituted CaMn0.98Nb0.02O3-δ. All compositions exhibit both an increase in absolute Seebeck coefficient and electrical resistivity with temperature. Moreover, compared to the Nb-substituted sample, the thermal conductivity of the W-substituted samples was strongly reduced. This reduction is attributed to the nearly two times greater mass of tungsten. Consequently, a ZT of 0.19 was found in CaMn0.97W0.03O3-δ at 1000 K, which was larger than ZT exhibited by the 2% Nb-doped sample.
Copper films on Si(100) were prepared by partially ionized beam at 0 kV and 3 kV acceleration voltages in order to investigate effects of ion energy on electrical property with thickness. X-ray diffraction(XRD) pattern analysis was used to investigate crystallinity of the copper films, microstructure by Scanning electron microscope(SEM) and surface roughness by atomic force microscopy(AFM). The crystallinity of the copper films grown at the 3 kV was more (111) textured than that at the 0 kW. The copper films grown at the both condiitions had nearly same grain size below a thickness of 1000 Å. The 1800 Å Cu film grown at the 3 kV was 3 times rough than that at the 0 kV. The resistivity of copper films increased due to surface and grain boundary scattering, and the change of resistivity was discussed in terms of surface roughness, grain size and film density assisted by average depositing energy.
Undoped tin oxide films were grown on Si substrates by a reactive ion-assisted deposition technique in which oxygen ions were irradiated on depositing Sn particles. In order to investigate the oxidation from SnO to SnO2, the effects of initial oxygen contents and heat treatment on the final crystalline structure of tin oxide films were thoroughly examined. Oxygen to Sn metal ratio (No/Nsn) of as-deposited films were controlled from 1.1 to 1.9 by varying the relative arrival ratio (F) of oxygen ion to Sn particle from 0.025 to 0.1. Heat treatment was carried out in two different ways; one was post vacuum-annealing at 400 ∼ 600°C and the other was in-situ annealing 400 ∼ 500°C. Crystalline structure of as-deposited tin oxide films at room temperature was amorphous. After post-annealing at 400°C, only SnO phase was found below No/Nsn= 1.6 in x-ray diffraction and crystalline structure of the films comprising higher oxygen contents still appeared to be amorphous. Even though the films still showed SnO phase until Γ50 after 500°C post-annealing, however, mixed structures of SnO, SnO2, and intermediate Sn2O3/Sn3O4 were observed for the films Γ75 and Γ100 with higher oxygen contents. At 600°C annealing, perfect SnO2 phase was attained for the films having No/Nsn=1.9. On the other hand, pure polycrystalline SnO2 films could be obtained by in-situ annealing at low temperature. The values of No/Nsn and the chemical shifts with the variation of oxidation were carefully determined by the comparison of Sn MNN and O KLL Auger transitions. Surface microstructure of deposited films was also analyzed using a scanning electron microscopy (SEM) and an atomic force microscope (AFM).