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Studies suggest that alcohol consumption and alcohol use disorders have distinct genetic backgrounds.
We examined whether polygenic risk scores (PRS) for consumption and problem subscales of the Alcohol Use Disorders Identification Test (AUDIT-C, AUDIT-P) in the UK Biobank (UKB; N = 121 630) correlate with alcohol outcomes in four independent samples: an ascertained cohort, the Collaborative Study on the Genetics of Alcoholism (COGA; N = 6850), and population-based cohorts: Avon Longitudinal Study of Parents and Children (ALSPAC; N = 5911), Generation Scotland (GS; N = 17 461), and an independent subset of UKB (N = 245 947). Regression models and survival analyses tested whether the PRS were associated with the alcohol-related outcomes.
In COGA, AUDIT-P PRS was associated with alcohol dependence, AUD symptom count, maximum drinks (R2 = 0.47–0.68%, p = 2.0 × 10−8–1.0 × 10−10), and increased likelihood of onset of alcohol dependence (hazard ratio = 1.15, p = 4.7 × 10−8); AUDIT-C PRS was not an independent predictor of any phenotype. In ALSPAC, the AUDIT-C PRS was associated with alcohol dependence (R2 = 0.96%, p = 4.8 × 10−6). In GS, AUDIT-C PRS was a better predictor of weekly alcohol use (R2 = 0.27%, p = 5.5 × 10−11), while AUDIT-P PRS was more associated with problem drinking (R2 = 0.40%, p = 9.0 × 10−7). Lastly, AUDIT-P PRS was associated with ICD-based alcohol-related disorders in the UKB subset (R2 = 0.18%, p < 2.0 × 10−16).
AUDIT-P PRS was associated with a range of alcohol-related phenotypes across population-based and ascertained cohorts, while AUDIT-C PRS showed less utility in the ascertained cohort. We show that AUDIT-P is genetically correlated with both use and misuse and demonstrate the influence of ascertainment schemes on PRS analyses.
The prime focus of this work is to estimate stability and control derivatives of an airship in a completely nonlinear environment. A complete six degrees of freedom airship model has its aerodynamic model as nonlinear functions of angle of attack. Estimating the parameters of aerodynamic model in a nonlinear environment is challenging as it demands an exhaustive dataset that could cover the entire regime of operation of airship. In this work, data generation is achieved by simulating the mathematical model of airship for different trim conditions obtained from continuation analysis. The mathematical model is simulated using predicted parameter values obtained using DATCOM methodology. A modular neural network is then trained using back-propagation and Adam optimisation algorithm for each of the aerodynamic coefficients separately. The estimated nonlinear airship parameters are found to be consistent with the DATCOM parameter values which were used for open-loop simulation. This validates the proposed methodology and could be extended to estimate airship parameters from real flight data.
Despite established clinical associations among major depression (MD), alcohol dependence (AD), and alcohol consumption (AC), the nature of the causal relationship between them is not completely understood. We leveraged genome-wide data from the Psychiatric Genomics Consortium (PGC) and UK Biobank to test for the presence of shared genetic mechanisms and causal relationships among MD, AD, and AC.
Linkage disequilibrium score regression and Mendelian randomization (MR) were performed using genome-wide data from the PGC (MD: 135 458 cases and 344 901 controls; AD: 10 206 cases and 28 480 controls) and UK Biobank (AC-frequency: 438 308 individuals; AC-quantity: 307 098 individuals).
Positive genetic correlation was observed between MD and AD (rgMD−AD = + 0.47, P = 6.6 × 10−10). AC-quantity showed positive genetic correlation with both AD (rgAD−AC quantity = + 0.75, P = 1.8 × 10−14) and MD (rgMD−AC quantity = + 0.14, P = 2.9 × 10−7), while there was negative correlation of AC-frequency with MD (rgMD−AC frequency = −0.17, P = 1.5 × 10−10) and a non-significant result with AD. MR analyses confirmed the presence of pleiotropy among these four traits. However, the MD-AD results reflect a mediated-pleiotropy mechanism (i.e. causal relationship) with an effect of MD on AD (beta = 0.28, P = 1.29 × 10−6). There was no evidence for reverse causation.
This study supports a causal role for genetic liability of MD on AD based on genetic datasets including thousands of individuals. Understanding mechanisms underlying MD-AD comorbidity addresses important public health concerns and has the potential to facilitate prevention and intervention efforts.
Gambling disorder (GD), recognized in Diagnostic and Statistical Manual of Mental Disorders, Version 5 (DSM-5) as a behavioral addiction, is associated with a range of adverse outcomes. However, there has been little research on the genetic and environmental influences on the development of this disorder. This study reports results from the largest twin study of GD conducted to date.
Replication and combined analyses were based on samples of 3292 (mean age 31.8, born 1972–79) and 4764 (mean age 37.7, born 1964–71) male, female, and unlike-sex twin pairs from the Australian Twin Registry. Univariate biometric twin models estimated the proportion of variation in the latent GD liability that could be attributed to genetic, shared environmental, and unique environmental factors, and whether these differed quantitatively or qualitatively for men and women.
In the replication study, when using a lower GD threshold, there was evidence for significant genetic (60%; 95% confidence interval (CI) 45–76%) and unique environmental (40%; 95% CI 24–56%), but not shared environmental contributions (0%; 95% CI 0–0%) to GD liability; this did not significantly differ from the original study. In the combined analysis, higher GD thresholds (such as one consistent with DSM-5 GD) and a multiple threshold definitions of GD yielded similar results. There was no evidence for quantitative or qualitative sex differences in the liability for GD.
Twin studies of GD are few in number but they tell a remarkably similar story: substantial genetic and unique environmental influences, with no evidence for shared environmental contributions or sex differences in GD liability.
Anomalous aortic origin of a coronary artery is the second leading cause of sudden cardiac arrest/death in young athletes in the United States of America. Limited data are available regarding family history in this patient population.
Patients were evaluated prospectively from 12/2012 to 02/2017 in the Coronary Anomalies Program at Texas Children’s Hospital. Relevant family history included the presence of CHD, sudden cardiac arrest/death, arrhythmia/pacemaker use, cardiomyopathy, and atherosclerotic coronary artery disease before the age of 50 years. The presence of one or more of these in 1st- or 2nd-degree relatives was considered significant.
Of 168 unrelated probands (171 patients total) included, 36 (21%) had significant family history involving 19 (53%) 1st-degree and 17 (47%) 2nd-degree relatives. Positive family history led to cardiology referral in nine (5%) patients and the presence of abnormal tests/symptoms in the remaining patients. Coronary anomalies in probands with positive family history were anomalous right (27), anomalous left (five), single right coronary artery (two), myocardial bridge (one), and anomalous circumflex coronary artery (one). Conditions present in their family members included sudden cardiac arrest/death (15, 42%), atherosclerotic coronary artery disease (14, 39%), cardiomyopathy (12, 33%), CHD (11, 31%), coronary anomalies (3, 8%), myocardial bridge (1, 3%), long-QT syndrome (2, 6%), and Wolff–Parkinson–White (1, 3%).
In patients with anomalous aortic origin of a coronary artery and/or myocardial bridges, there appears to be familial clustering of cardiac diseases in approximately 20% of patients, half of these with early occurrence of sudden cardiac arrest/death in the family.
We describe the case of a 52-day-old child who was diagnosed with a rare combination of corrected transposition of great vessels – hypoplastic right ventricle with supracardiac total anomalous pulmonary venous connection.
Prior research has documented shared heritable contributions to non-suicidal self-injury (NSSI) and suicidal ideation (SI) as well as NSSI and suicide attempt (SA). In addition, trauma exposure has been implicated in risk for NSSI and suicide. Genetically informative studies are needed to determine common sources of liability to all three self-injurious thoughts and behaviors, and to clarify the nature of their associations with traumatic experiences.
Multivariate biometric modeling was conducted using data from 9526 twins [59% female, mean age = 31.7 years (range 24–42)] from two cohorts of the Australian Twin Registry, some of whom also participated in the Childhood Trauma Study and the Nicotine Addiction Genetics Project.
The prevalences of high-risk trauma exposure (HRT), NSSI, SI, and SA were 24.4, 5.6, 27.1, and 4.6%, respectively. All phenotypes were moderately to highly correlated. Genetic influences on self-injurious thoughts and behaviors and HRT were significant and highly correlated among men [rG = 0.59, 95% confidence interval (CI) (0.37–0.81)] and women [rG = 0.56 (0.49–0.63)]. Unique environmental influences were modestly correlated in women [rE = 0.23 (0.01–0.45)], suggesting that high-risk trauma may confer some direct risk for self-injurious thoughts and behaviors among females.
Individuals engaging in NSSI are at increased risk for suicide, and common heritable factors contribute to these associations. Preventing trauma exposure may help to mitigate risk for self-harm and suicide, either directly or indirectly via reductions in liability to psychopathology more broadly. In addition, targeting pre-existing vulnerability factors could significantly reduce risk for life-threatening behaviors among those who have experienced trauma.
The rheological behavior of composites made with high-density polyethylene (HDPE) and chitosan was studied. Composites were prepared by melt processing in a laboratory internal mixer. Maleic anhydride grafted HDPE (PE-g-MA) was used as compatibilizer to enhance the dispersion of chitosan in the HDPE matrix. Different percentages of chitosan and compatibilizer (up to a maximum of 25 phr) were added into HDPE to prepare composites. Characterization of the composites with parallel plate rheometer and laboratory internal mixer revealed that the presence of chitosan increases the complex viscosity, loss modulus, storage modulus and the torque (i.e., melt viscosity), and the combination chitosan/compatibilizer has a similar, if slighter, effect. At higher filler levels it is clear that the PE-g-MA affected the microstructure of the compounds, possibly increasing matrix–filler interactions and acting as an effective compatibilizer.
The fish host (Wallago attu) and monogenoid parasite (Thaparocleidus sp.) have been recorded during 2 years (2011 and 2012) to investigate intra/interspecific interactions among query species (T. sudhakari (Gusev, 1976) Lim, 1996; T. indicus (Kulkarni, 1969) Lim, 1996; T. gomtius (Jain, 1952) Lim, 1996; T. yogendraii Agrawal, 1981 and T. wallagonius Jain, 1952) in the light of parasitic worm burden, morphological and molecular data. Each species is highly host specific (oioxenous), with a specialized functional niche. Being niche specialists, they exhibit niche overlapping along with co-existence due to reproductive barrier. Furthermore, a molecular marker, affirming clear-cut genetic variation in spite of structural entities, provides evidence for infra-speciation as well as co-speciation.
This study examined the effects of trichostatin A (TSA) treatment of reconstructed buffalo embryos, produced by hand-made cloning using somatic cells isolated from over a decade old frozen–thawed semen, on their in vitro and in vivo developmental competence, quality and epigenetic status. Following treatment of reconstructed embryos with TSA (0, 50 or 75 nM) for 10 h prior to culture, the cleavage (100.0 ± 0, 94.5 ± 2.3 and 96.1 ± 1.2%, respectively) and blastocyst rate (50.6 ± 2.3, 48.4 ± 2.7 and 48.1 ± 2.6%, respectively), total cell number (275 ± 17.4, 289 ± 30.1 and 317 ± 24.2, respectively) and apoptotic index (5.6 ± 0.7, 3.4 ± 0.9 and 4.5 ± 1.4, respectively) were not significantly different among the three groups. However, TSA treatment increased (P < 0.05) the global level of H4K5ac and decreased (P < 0.05) that of H3K27me3 in blastocysts whereas the global level of H3K18ac was not affected significantly. Transfer of embryos treated with 75 nM TSA (n = 10) to recipients resulted in two pregnancies (20%), one out of which was aborted in the second and the other in the third trimester whereas transfer of control embryos (n = 20) or those treated with 50 nM TSA (n = 12) did not result in any pregnancy. In conclusion, these results suggest that TSA treatment of cloned buffalo embryos produced using somatic cells isolated from frozen–thawed semen improved their epigenetic status but not the in vitro developmental potential and offspring rate.
Minimum health requirements exist for entry into the UK armed forces. Both pre-existing and iatrogenic ENT conditions may impact on an individual's medical fitness and their ability to enter the forces.
The relevant literature was examined and military otolaryngology advisors were interviewed in order to define the ENT-specific conditions that restrict an individual joining the armed forces.
The ENT diseases and disabilities that inhibit an individual's ability to join the forces are described. Treatments that may facilitate or restrict recruitment are also discussed.
Members of the armed forces operate in arduous environments and are required to pass a screening medical assessment before joining. Personnel may be isolated away from specialist care and therefore cannot be dependent on specialist devices or medicines. This paper aims to arm ENT specialists with occupational knowledge to enable them to correctly counsel patients and offer appropriate treatment.
We present planforms of line plumes formed on horizontal surfaces in turbulent convection, along with the length of line plumes measured from these planforms, in a six decade range of Rayleigh numbers () and at three Prandtl numbers (). Using geometric constraints on the relations for the mean plume spacings, we obtain expressions for the total length of near-wall plumes on horizontal surfaces in turbulent convection. The plume length per unit area (), made dimensionless by the near-wall length scale in turbulent convection (), remains constant for a given fluid. The Nusselt number is shown to be directly proportional to for a given fluid layer of height . The increase in has a weak influence in decreasing . These expressions match the measurements, thereby showing that the assumption of laminar natural convection boundary layers in turbulent convection is consistent with the observed total length of line plumes. We then show that similar relationships are obtained based on the assumption that the line plumes are the outcome of the instability of laminar natural convection boundary layers on the horizontal surfaces.
Successful patient outcomes in the setting of ocular emergencies depend on correct recognition and assessment as well as appropriate initial management. The purpose of this study is to describe the clinico-epidemiological findings and management options in patients with ocular injuries in the emergency room of a rural hospital.
Material and Methods
In this retrospective review the records of patients who were treated for ocular trauma from June 2010 to December 2010 in the emergency room of MM Institute of Medical Sciences and Research, Mullana (Ambala) were reviewed. The following data for all patients were recorded: age, sex, date and time of injury, involved eye, circumstance and mechanism of injury, initial visual acuity, details of appropriate investigation, immediate management and outcome.
A total 46 patients were included in the study. Young adult male patients were more commonly involved. Most of the patients presented within 12hours of injury. Left eye was involved in 14 patients; right in 12 and 10 patients had injuries to both eyes. Most common mode of injury was mechanical. The patients who sustained bilateral ocular injuries were due to chemical burns (7 cases) and electrocution (3 cases). Most of the patients were managed conservatively. The surgical treatment offered were repair of corneal tears, removal of foreign bodies. The visual outcome was excellent in most of the patients.
Ocular injuries can have wide range of etiological factors and presentation and assessment of ocular emergencies can be made difficult by a lack of sophisticated facilities. However, a concise patient history, general observation and basic ocular tests can lead to a firm diagnosis and thereby appropriate management.
Analyses of causes and trends of traumatic brain injuries help to define public health policy priorities. There are not much TBI registries, thus making documentation of injuries inadequate and accessing these data problematic. This study is aimed at identifying the characteristics of TBI and determining the efficiency of documentation of patients' records in a tertiary hospital.
Patients and Methods
Based on WHO guidelines “Standards for Surveillance of Neurotrauma” we designed a proforma to collect data on traumatic brain injuries. A prospective data collection was done from January to June 2010. Data was collected on a paper form and then entered into the self-developed TBI registry database. Descriptive analysis was performed.
Data for a total 414 patients were collected. Mean age was 33.00 years (SD ± 16.725, range 1–85 years), and 81% male. Most of the accidents took place on highways (57.2%), commonest being the road traffic accidents (55.1%), brought by relatives (74%). The mean duration for hospital stay was 5.42 days (SD ± 8.312 days, range 1-79 days). 10% patients required resuscitation at the time of admission. Details of Glasgow coma scale were available; details regarding CT scan findings were available for 300 patients. Good recovery was seen in 68.4% and the mortality was in 7.2%. Further details on vital parameters and investigations included in the study were also collected.
TBI related research in many developing countries is in the developmental stages with relatively few published data. Although early analysis of a TBI data can lead to useful information, there is further need for the development of a user-friendly secure web-based database system to continuously maintain and analyze the registry.
Trauma is one of the leading causes of morbidity and mortality across the world with traumatic brain injury (TBI) being an important cause of trauma related deaths. The aim of our study was to review the medical charts of patients who died within 24 hours of presentation to our Hospital after head injury.
We received approval from the institutional review board to conduct a retrospective review of patient charts at Acharaya Vinoba Bhave Rural Hospital, in Sawangi (M), Maharashtra (India). All patients who died within 24 hours of the presentation to the emergency department (ED) and had been diagnosed with TBI were included in the study. We collected data from 113 charts between January 2007 and December 2009.
During this three year period, 113 patients died within 24 Hours of admission to the hospital. Of these, 37% (42/113) were diagnosed with (TBI). We conducted a chart review of these 42 patients. All our patients were brought to the ED by relatives or bystanders in non-ambulance vehicles. At the time of presentation to the ED, nearly all patients were normotensive, with only one patient with hypotension The Majority of our patients had a Glasgow Coma Scale of less than 5.
Our study brings to light various deficiencies in rural India, trauma care which include immediate rescue and transportation. Although patients were provided the optimum care in the ED, however it was not associated with favorable outcome. This highlights the need of a Trauma Registry to record real-time data which will help to improve care and systems.
We report an extremely rare case of laryngeal lichen planus.
A case report and literature review of the aetiopathogenesis, clinical features and management of laryngeal lichen planus are presented.
A male patient presented with hoarseness and a history suggestive of squamous cell carcinoma of the larynx. However, characteristic histopathological findings demonstrated lichen planus. The patient responded very well to oral steroids, and at the time of writing had remained symptom-free for two years.
This is the first English language report of laryngeal lichen planus. Lichen planus is a diagnosis of exclusion and responds well to steroids. However, patients should be followed up regularly as malignant change is known to occur.
We present a case report of a single lesion of cysticercosis cellulosae, a parasitic infection caused by the larval stage of Taenia solium (pork tapeworm), presenting as a soft tissue swelling of the lower lip. We stress the importance of knowledge about oral manifestations of parasitic infections.
One factor contributing to impaired awareness of illness (poor insight)
in psychotic disorders may be neurocognitive deficits.
A systematic review and meta-analysis were conducted after data
extraction. Following an overall analysis, in which measures of different
cognitive domains were taken together, more finegrained analyses
investigated whether there was a specific relation with frontal executive
functioning, and whether this was influenced by diagnosis or the insight
There was a significant mean correlation between insight ratings and
neurocognitive performance (mean weighted r=0.17, 95% CI
0.13–0.21, z=8.3, P < 0.0001), based
on 35 studies with a total of 2354 individuals. Further analyses revealed
that the effect of general intellectual impairment was smaller than the
specific association with executive function. This was only the case for
psychosis in general, and not in an analysis limited to schizophrenia,
where all cognitive domains were associated with impaired insight to a
Neuropsychological dysfunction, specifically impairment of set-shifting
and error monitoring, contributes to poor insight in psychosis. Specific
relations with different dimensions of insight and the putative role of
metacognitive functions require further study.