Prevalence of substance use and substance use disorder in medically ill patients: A cross-sectional, hospital-based study from India.

Background Untreated co-occurring substance use and substance use disorders (SUDs) in patients with medical conditions may be associated with unfavourable medical outcomes. Understanding the prevalence of substance use and SUDs among patients admitted to hospital for medical illness may help in developing appropriate strategies to manage SUDs in this population and improve the outcomes of medical illness. We assessed the prevalence of substance use and SUDs among patients admitted for medical illnesses and the association between substance use and medical illness. Methods This cross-sectional study was done in an in-patient setting in a multidisciplinary teaching medical institution in India. Using systematic sampling, adult patients admitted in various departments for at least 24 hours were interviewed using standard instruments by psychiatrists trained in the study methodology. Results Two hundred and ninety patients participated. Their mean (SD) age was 42.2 (15.6) years. One hundred and nine participants (37.6%) reported lifetime use of any psychoactive substance, with tobacco being the most common substance used (91, 31.4%), followed by alcohol (69, 23.8%) and cannabis (12, 4.1%). Lifetime alcohol use was significantly associated with diseases of the circulatory system. Lifetime use of any substance or of alcohol, and current use of any substance or tobacco were significantly associated with injuries, poisoning and other consequences of external causes. Conclusions A large proportion of patients hospitalized for medical illness reported the use of psychoactive substances or had SUDs. The use of some of these substances was also associated with injuries as well as diseases of the circulatory system.

Whole Exome Sequencing of Adult Indians with Apparently Acquired Aplastic Anaemia: Initial Experience at Tertiary Care Hospital.

Aplastic anaemia (AA) is a rare hypocellular bone marrow disease with a large number of mutations in the telomerase reverse transcriptase gene (TERT), leading to bone marrow failure. We used our benchmarked whole exome sequencing (WES) pipeline to identify variants in adult Indian subjects with apparently acquired AA. For 36 affected individuals, we sequenced coding regions to a mean coverage of 100× and a sufficient depth was achieved. Downstream validation and filtering to call mutations in patients treated with Cyclosporin A (CsA) identified variants associated with AA. We report four mutations across the genes associated with the AA, TERT and CYP3A5, in addition to other genes, viz., IFNG, PIGA, NBS/NBN, and MPL. We demonstrate the application of WES to discover the variants associated with CsA responders and non-responders in an Indian cohort.

Exploring risk factors and determinants: A scoping review of factors associated with nomophobia.

Background: Nomophobia or no-mobile-phone phobia, defined as the fear of being unable to use or being unreachable via one's mobile phone. The pervasive concern has varied bio-psychosocial and clinical implications in an individual's life. Nomophobia is currently in an exploratory phase. Methods: A scoping review was conducted to systematically map the relevant evidence and literature on nomophobia. The review of scholarly literature spanning from January 2010 to May 2023 employed a narrative synthesis methodology to succinctly encapsulate the research findings. Additionally, it encompassed a meticulous examination and visual representation of studies, detailing both the frequency of investigation into specific variables and the instances in which said variables exhibited a statistically significant association with nomophobia. Results: A thorough examination of 92 studies revealed a total of 133 variables spanning demographic, lifestyle-related, academic, smartphone-related, psychosocial, and clinical domains. Notably, 42.86% of these variables have only been investigated in a single research study, underscoring the imperative for replication to enhance the generalizability, validity, and applicability of research findings. Moreover, the review identifies Nomophobia Questionnaire (NMP-Q) by Yildirim and Correia as the most widely used tool for measuring the severity of nomophobia. Conclusion: There is a crucial need for homogeneity and consistency in reporting nomophobia scores and establishing corresponding gradations indicative of functional ramifications or clinical severity of nomophobia. The findings elucidate significant research gaps in existing literature on nomophobia, hold implications for further synthesis of data, and contribute to a comprehensive understanding of nomophobia; ensuring superior diagnostic accuracy and precision, and facilitating successful delivery of targeted interventions.

Assessment of Severity of Substance use for Outcomes Research and Treatment (ASSORT): A substance use severity scale developed and validated across six tertiary care centers in India.

Background and Aims: Assessment of the severity of substance use disorders (SUDs) in a culture-sensitive manner can help gauge the current condition of the substance user and assess change with time. The present study aimed to develop a scale for the assessment of the severity of SUDs in the Indian clinical context. Methods: Based upon the review of literature on previously available instruments and a consultative meeting of experts, a clinician-rated scale was developed that finally comprised 41 items. A briefer 5-item scale with current and lifetime versions was also developed. The scales were applied to patients with SUDs at six different clinical sites. Results: The instrument was applied to 720 patients (98.2% males, mean age: 34.6 years). The Cronbach's alpha of the full scale was 0.852. The inter-rater reliability Pearson correlation coefficient of the full-scale was r = 0.821 (P < 0.001), and the intra-class correlation coefficient single measure was 0.800 (95% confidence interval: 0.724-0.956). A four-factor solution was suggested to be the most tenable. The mean application duration of the full scale was 13.4 minutes, and that of the briefer version was 2 minutes. Conclusion: This validated scale could be a potentially useful assessment measure for the severity of SUDs in the Indian context. The utility lies in the simplicity of administration and scoring and the balance between brevity and thorough assessment.

Endoscopic Glue Injection vs Glue Plus BRTO or TIPSS for Preventing Gastric Variceal Bleeding: A Randomized Controlled Trial.

BACKGROUND AND AIMS: The study sought to compare the efficacy of endoscopic injection sclerotherapy with cyanoacrylate glue (EIS-CYA) vs EIS-CYA plus a radiologic intervention (RI) (either transjugular intrahepatic portosystemic shunt or balloon-occluded retrograde transvenous obliteration) for secondary prophylaxis in patients with liver cirrhosis who presented with acute variceal bleeding from cardiofundal varices. Primary outcome measure was gastric varix (GV) rebleed rates at 1 year. METHODS: Consecutive cirrhosis patients with acute variceal bleeding from cardiofundal varices were randomized into 2 arms (45 in each) after primary hemostasis by EIS-CYA. In the endoscopic intervention (EI) arm, EIS-CYA was repeated at regular intervals (1, 3, 6, and 12 months), while in the RI arm, patients underwent transjugular intrahepatic portosystemic shunt or balloon-occluded retrograde transvenous obliteration followed by endoscopic surveillance. RESULTS: GV rebleed rates at 1 year were higher in the EI arm compared with the RI arm: 11 (24.4%; 95% confidence interval [CI], 12.9%-39.5%) vs 1 (2.2%; 95% CI, 0.1%-11.8%) (P = .004; absolute risk difference: 22.2%; 95% CI, 8.4%-36.6%). GV rebleed-related mortality in the EI arm (8 [17.8%; 95% CI, 8.0%-32.1%]) was significantly higher than in the RI arm (1 [2.2%; 0.1%-11.8%]) (P = .030; absolute risk difference: 15.6; 95% CI, 2.9%-29.2%); however, there was no difference in all-cause mortality between the 2 groups (12 [26.7%; 95% CI, 14.6%-41.9%] vs 7 [15.6%; 95% CI, 6.5%-29.5%]). The number needed to treat to prevent 1 GV-related rebleed at 1 year was 4.5. CONCLUSIONS: RI for secondary prophylaxis reduces rebleeding from GV and GV rebleeding-related mortality in patients with GV hemorrhage. (CTRI/2021/02/031396).

Determination of Sample Size for Different Clinical Study Designs.

AIM: This study illustrates parameters, procedures, and calculations for the statistical determination of sample size for different clinical study designs. MATERIALS AND METHODS: In any research process, the sample size is an important consideration for the implementation of the planned study. From time to time, literature on sample size has been documented in the medical literature. However, the situations covered under them lack comprehensiveness in terms of different study designs, demonstration of calculations, and overreliance on statistical software. RESULTS: The present study provides various facets of sample size determination, such as prerequisite parameters, mathematical formulation, and calculations for clinical study designs [descriptive studies, randomized controlled trials (RCT), correlational studies, comparison of multiple outcomes, survival analysis, sensitivity, and specificity], which will be quite useful. CONCLUSION: This communication will be a good education and learning source for medical professionals to pick and choose a specific scenario and estimate the sample size.

Assessment of treatment retention rates and predictors of retention on opioid agonist treatment among adolescents.

INTRODUCTION: Opioid agonist treatment (OAT) is an effective treatment for opioid dependence syndrome in adults. However, studies on effectiveness of OAT in adolescents are limited; existing studies show varying retention rates. The present study aimed to assess OAT retention rates in adolescent patients with opioid dependence syndrome registered in a community drug treatment clinic in Delhi, India, and to analyse factors associated with retention at 1 year. METHODS: Retrospective cohort study. All adolescents (n = 130) aged 10-19 years, started on OAT from January 2020 to July 2022 were included. Baseline and follow-up data was extracted from online record system maintained at the clinic. OAT retention rates at different timepoints were assessed. Multivariable logistic regression was used to discern factors associated with one-year retention. RESULTS: The participants' mean age was 16.9 (SD 1.4) years. Mean age of starting opioids was 14.9 (SD 2.2) years; 29.5% (n = 38) injected opioids. The 6-, 12-, 18- and 24-month retention rate on OAT was 64.4%, 45.6%, 38.7% and 29% respectively. The retention rates with buprenorphine and methadone were comparable. Multivariate logistic regression showed retention for less than 12 months to be significantly associated with younger age of starting heroin, involvement in illegal activities, absenteeism from school and substance use in family. DISCUSSION AND CONCLUSIONS: The 12-month retention rates on OAT in adolescents is comparable to retention rates in adults. Various factors associated with early age of onset of opioid use are also associated with lower retention rates on OAT.

Clinical profile and outcomes of hepatocellular carcinoma in primary Budd-Chiari syndrome.

BACKGROUND: There is scant literature on hepatocellular carcinoma (HCC) in patients with Budd-Chiari syndrome (BCS). AIM: To assess the magnitude, clinical characteristics, feasibility, and outcomes of treatment in BCS-HCC. METHODS: A total of 904 BCS patients from New Delhi, India and 1140 from Mumbai, India were included. The prevalence and incidence of HCC were determined, and among patients with BCS-HCC, the viability and outcomes of interventional therapy were evaluated. RESULTS: In the New Delhi cohort of 35 BCS-HCC patients, 18 had HCC at index presentation (prevalence 1.99%), and 17 developed HCC over a follow-up of 4601 person-years, [incidence 0.36 (0.22-0.57) per 100 person-years]. BCS-HCC patients were older when compared to patients with BCS alone (P = 0.001) and had a higher proportion of inferior vena cava block, cirrhosis, and long-segment vascular obstruction. The median alpha-fetoprotein level was higher in patients with BCS-HCC at first presentation than those who developed HCC at follow-up (13029 ng/mL vs 500 ng/mL, P = 0.01). Of the 35 BCS-HCC, 26 (74.3%) underwent radiological interventions for BCS, and 22 (62.8%) patients underwent treatment for HCC [transarterial chemoembolization in 18 (81.8%), oral tyrosine kinase inhibitor in 3 (13.6%), and transarterial radioembolization in 1 (4.5%)]. The median survival among patients who underwent interventions for HCC compared with those who did not was 3.5 years vs 3.1 mo (P = 0.0001). In contrast to the New Delhi cohort, the Mumbai cohort of BCS-HCC patients were predominantly males, presented with a more advanced HCC [Barcelona Clinic Liver Cancer C and D], and 2 patients underwent liver transplantation. CONCLUSION: HCC is not uncommon in patients with BCS. Radiological interventions and liver transplantation are feasible in select primary BCS-HCC patients and may improve outcomes.

Psychosocial Correlates of the Experience of Caregiving Among Caregivers of Patients With Schizophrenia.

BACKGROUND: Family caregivers provide essential support to their loved ones with schizophrenia with profound outcomes for themselves. The caregiver burden fails to consider the entire caregiving experience, which also incorporates positive aspects of caring. Many potentially significant variables are associated with this. AIM: To examine the correlates of the experience of caregiving in caregivers of patients with schizophrenia. The specific objectives were to examine the socio-demographic variables of the patients and caregivers, clinical variables of the patient, caregivers' knowledge of illness, caregivers' perspectives of family functioning, caregiver coping, their social support, psychological distress, quality of life, and their spirituality, religiosity and personal beliefs and the associations of these variables with the caregivers' experience of caregiving. METHODS: This cross-sectional observational study was conducted between August 2018 and January 2021 at All India Institute of Medical Sciences, New Delhi, India. One hundred and fifty-eight dyads of patients with schizophrenia and their family caregivers were recruited using purposive sampling. Experience of Caregiving Inventory was used to evaluate the caregiving experience. The caregivers were also assessed on socio-demographics, knowledge of illness, family functioning, coping, social support, general mental health, quality of life, and spiritual, religious, and personal beliefs. Patient socio-demographics and clinical variables were also assessed. RESULTS: A negative experience of caregiving was reported by caregivers of patients who had higher positive or negative symptoms of schizophrenia. Impaired Communication, Roles, Affective Responsiveness, Affective Involvement, and General Functioning aspects of family functioning were associated with a negative experience of caregiving. Denial/blame and seeking social support as coping were also associated with a negative experience of caregiving. A negative experience of caregiving was significantly positively correlated with greater psychological distress and poorer quality of life. Greater inner peace was associated with a less negative experience of caregiving. Spiritual strength was associated with a more positive experience of caregiving. Knowledge of mental illness and caregiver social support were not significantly associated with the experience of caregiving. CONCLUSION: Experience of caregiving is a relevant construct, the understanding of which can help inform caregiver-directed interventions in the future. Specifically, family-based interventions, which include ameliorating patient symptomatology, improving the family environment, strengthening caregivers' coping strategies, attending to caregiver distress, and encouraging spirituality among caregivers, may lead to a less negative and more positive experience of caregiving; and a better quality of life for caregivers.

Transferability of laparoscopic skills acquired from three-dimensional high-definition and ultra-high definition endovision system to two-dimensional high-definition endovision system: an ex-vivo randomized study.

Three-dimensional high-definition (3D HD) and ultra-high-definition (4 K HD) endovision systems are rapidly adopted in academic setting. However, transferability of laparoscopic skills acquired from these systems to two-dimensional high-definition (2D HD) endovision system is not known. Forty stereo-enabled surgical residents were randomized into two groups. They performed three standardized surgical tasks, Task 1(Peg transfer), Task 2(Precision touch on uneven surface) and Task 3(Surgical knotting on rubber tube) for 15 repetitions using either 3D HD or 4 K HD. Both groups then performed the same tasks using 2D HD for 5 repetitions. Their performances were evaluated for execution time (speed) and error scores (safety). The residents in 3D HD group performed all three tasks significantly faster than residents in 4 K HD group with comparable error scores. The time taken to complete the tasks on 2D HD were comparable between residents trained in 3D HD and 4 K HD in two out of three tasks (p = 0.027, P = 0.115, p = 0.368 in task 1, 2 and 3 respectively). However, in two out of three tasks, residents trained on 3D HD committed significantly more errors than residents trained on 4 K HD (p < 0.0001, p < 0.001 in task 1 and task 2 respectively). Skill acquired on 4 K HD seems transferable to 2D HD environment. Participants trained in 3D HD made more errors while performing the tasks in 2D HD. It may be prudent to offer additional training on 2D HD to residents trained on 3D HD for safer laparoscopic surgical practice.

Changes in Psychosocial Variables Among Caregivers of Patients With Schizophrenia: A Short-Term Follow-Up Study.

BACKGROUND AND AIMS: Caring for a person with schizophrenia entails considerable effort. The caregiving experience while caring for a person with schizophrenia has been described as both stressful and enriching. The literature on changes in caregiving experience with time has been fairly limited. The present analysis looks at the change in the caregiving experience of caregivers of patients with schizophrenia. METHOD: This study had a sample of 50 caregivers of patients with schizophrenia who were followed up after a period of 6 to 10 months. Caregiving experience, knowledge of the mental illness, family functioning, coping, social support, psychological distress, quality of life, and spiritual, religious, and personal beliefs were assessed at the two time points. RESULTS: Among the negative caregiving experiences, caregivers' need for back-up and patient dependency reduced significantly at follow-up as compared to baseline, though total negative or positive experiences of caregiving did not show a significant difference. Knowledge about mental illness did not significantly increase at follow-up, though issues related to poor communication and affective involvement in family functioning reduced over the period of time. Coping and social support remained largely the same, while psychological distress was reduced. All domains of quality of life improved over the follow-up period, while the hope, optimism, and inner peace aspects of spiritual, religious, and personal beliefs improved with time. CONCLUSION: Some aspects of caregiving experiences may change with time. As caregivers become more adjusted to caregiving roles, their distress may reduce, and their quality of life may improve.

Characteristics Associated with Substance Use and Non-use Among Street Children in Delhi, India: A Community-based Cross-sectional Epidemiological Study.

Background: Street children are vulnerable to adverse health and risk behaviors and drug use. Substance use among street children has been well documented in several countries. This study reports sociodemographic and peer, family, and stress-related factors associated with substance use and non-use in a representative sample of street children of Delhi. Methods: This cross-sectional survey was conducted through six NGOs working with street children, using Respondent Driven Sampling, in nine districts of Delhi (n = 766, 7-18 years). The multivariable model was developed by applying binary logistic regression analysis. Results: The rate of substance use was 49%. Significant association was found between substance use in the past year and increasing age [Odds Ratio: OR (95% Confidence Interval)] [1.22(1.12,1.33)], male sex [4.34 (2.28,8.26)], lacking psychosocial support from family/relatives [3.27(1.84,5.80)], being engaged in earning from illegal sources, [3.04(1.75,5.29)], family use of substance [2.59(1.38,4.89)], presence of substance-using peers [29.86(14.38,62.01)], lack of non-drug-using peers [2.35(1.46,3.79)], and not possessing basic amenities [2.26(1.31,3.93)]. Conclusion: Multiple modifiable factors exist within the family and peer group, including risk and protective factors or a consequence of substance use. Some challenges in the form of difficulty in reaching out to them and poor treatment seeking by those using substances warrant intensification in both primary and secondary prevention initiatives.

Comparison of 1-day versus 3-day intravenous terlipressin in cirrhosis patients with variceal bleeding: A pilot randomised controlled trial.

BACKGROUND: In cirrhosis patients with acute variceal bleeding (AVB), the optimal duration of vasoconstrictor therapy after endoscopic haemostasis is unclear. AIMS: We aimed to compare efficacy of 1-day versus 3-day terlipressin therapy in cirrhosis patients with AVB post-endoscopic intervention. The primary objective was to compare rebleeding at 5 days between the two arms. Secondary objectives included rebleeding and mortality rates at 6 weeks. METHODS: In this open-label, randomised controlled trial, cirrhosis patients with AVB were randomised to either 1-day or 3-day terlipressin therapy. RESULTS: A total of 150 cirrhosis patients with AVB were recruited to receive either 1 day (n = 75) or 3 days (n = 75) of terlipressin therapy. One patient from 1-day arm was excluded. Modified intention-to-treat analysis included 149 patients. Baseline characteristics were comparable between the two groups. Rebleeding at 5 days: 3 (4.1%; 95% confidence interval [CI]: 0.4-9.0) versus 4 (5.3%; 95% CI: 2.0-10.0), risk difference (RD) p = 0.726 and 5-day mortality rates: 1 (1.4%; 95% CI: 0-7.3) versus 1 (1.3%; 95% CI: 0.2-7.0), RD p = 0.960 were similar. Rebleeding at 42 days: 9 (12.2%; 95% CI: 7.0-20.0) versus 10 (13.3%; 95% CI: 7.0-20.0), RD p = 0.842 and mortality at 42 days: 5 (6.8%; 95% CI: 3.0-10.0) versus 4 (5.3%; 95% CI: 2.0-10.0), RD p = 0.704 were also similar. Patients in the 1-day terlipressin therapy arm experienced significantly fewer adverse effects compared with those receiving 3 days of terlipressin therapy: 28 (37.8%) versus 42 (56%), p = 0.026. CONCLUSIONS: Our results suggest that 1 day of terlipressin therapy is associated with similar 5-day and 42-day rebleeding rates, 42-day mortality and an overall superior safety profile compared with 3-day of terlipressin therapy. These findings require to be validated in double-blinded, larger, multiethnic and multicentre studies across the various stages of cirrhosis (CTRI/2019/10/021771).

Trazodone for sleep disturbance in opioid dependent patients maintained on buprenorphine: A double blind, placebo-controlled trial.

BACKGROUND: Sleep disturbances are seen even in individuals on opioid agonist treatment (OAT). Established pharmacotherapy for sleep disturbances such as benzodiazepines have misuse potential and increased mortality risk in patients with OAT. No study has explored the role of trazodone on sleep disturbance in individuals maintained on buprenorphine. We aimed to assess the efficacy of trazodone in improving sleep disturbance among individuals maintained on buprenorphine. METHODS: The study was a double-blind, placebo-controlled, parallel, randomised trial. Adult males (18-60 years) stabilised on buprenorphine with Pittsburgh Sleep Quality Index (PSQI) score of above five, without other psychiatric comorbidity were randomised to receive either trazodone (50-150mg per day) or placebo. Sleep-50 questionnaire, Epworth Sleepiness Scale (ESS), Brief Pain Inventory (BPI), Clinical Opiate Withdrawal Scale (COWS), Depression, Anxiety and Stress Scale (DASS)-21, Visual Analogue Scale (VAS) for opioid craving, and PSQI were assessed at baseline and at the end of six weeks. RESULTS: Fifty-one patients were allocated to trazodone arm and 49 to placebo arm. Side-effects of trazodone were minimal and well-tolerated with comparable discontiuation rates between both groups. Significantly greater proportion of patients on trazodone (82%, mean dose 101.9 mg) had PSQI scores five or less than those on placebo (16%) at the end of six weeks. Sleep improvement was in various components like sleep quality, latency, efficiency, and duration of sleep. CONCLUSION: Trazodone is well-tolerated and effective in improving sleep disturbances in individuals with opioid dependence maintained on buprenorphine over a six-week period.

Effectiveness of smoking cessation intervention in opioid-dependent male subjects on buprenorphine maintenance treatment: An open-label trial.

Background: High prevalence (more than 80%) rates of tobacco smoking have been found both in, opioid-dependent subjects and among opioid-dependent subjects on opioid substitution treatment (OST) with buprenorphine or methadone. Aim: We aimed to explore the efficacy of combined nicotine replacement therapy (NRT) and individual counseling (IC) when compared to NRT alone in subjects on OST with buprenorphine. Methods: This study was carried out in a tertiary medical care center. It was an open-label randomized clinical trial. A total of 57 buprenorphine maintained smokers were recruited and randomized into two groups. They were assigned nicotine gum for 4 weeks plus either (1) a baseline IC session, and a second IC session after 1 week, or (2) simple advice to quit. In the first group, 31 subjects received NRT with IC and in the second group, 26 subjects received NRT plus simple advice to quit. The primary outcomes of this study were seven days point prevalence abstinence, biochemically confirmed by carbon monoxide (CO) breath analyzer, and reduction in smoking (mean no. of cigarettes or bidis/day). The smoking behavior during the 4 weeks follow-up period was assessed by the timeline follow-back (TLFB) method and confirmed by the CO breath analyzer. Results: The group of subjects who received NRT with IC showed higher rates of smoking cessation at the end of treatment (51%) as compared to the NRT and simple advice group where smoking cessation rates were around 8% (P < 0.001). Conclusion: A multi-component approach (pharmacotherapy and counseling) enhances treatment outcomes and enhances rates of abstinence from smoking.

Impact of body mass index on disease progression and outcomes in patients with nonalcoholic fatty liver disease.

BACKGROUND: The relationship between body mass index (BMI) and outcomes in patients with nonalcoholic fatty liver disease (NAFLD) is not well defined. This study aimed to assess the presentations, outcomes, and development of liver-related events (LREs) and non-LREs in patients with NAFLD stratified by BMI. METHODS: Records of NAFLD patients from 2000-2022 were reviewed. Patients were categorized as lean (18.5-22.9 kg/m2), overweight (23-24.9 kg/m2), and obese (>25 kg/m2) based on BMI. Stage of steatosis, fibrosis, and NAFLD activity score were noted in the patients undergoing liver biopsy in each group. RESULTS: Out of 1051 NAFLD patients, 127 (12.1%) had normal BMI, 177 (16.8%) and 747 (71.1%) were overweight and obese, respectively. Median [interquartile range] BMI was 21.9 [20.6-22.5], 24.2 [23.7-24.6], and 28.3 [26.6-30.6] kg/m2 in each group, respectively. Prevalence of metabolic syndrome and dyslipidemia were significantly higher in the obese. Obese patients had significantly higher median [interquartile range] liver stiffness (6.4 [4.9-9.4] kPa) than overweight and lean subjects. A higher proportion of obese patients had significant and advanced liver fibrosis. At follow-up, there were no significant differences in the progression of liver disease, new LREs, coronary artery disease, or hypertension across the BMI groups. Overweight and obese patients were more likely to develop new-onset diabetes by follow-up. The mortality rates in the three groups were comparable (0.47, 0.68, and 0.49 per 100 person-years, respectively), with similar causes of death (liver-related vs non-liver-related). CONCLUSIONS: Patients with lean NAFLD have similar disease severity and rates of progression as the obese. BMI is not a reliable determinant of outcomes in NAFLD patients.

Whole Exome-Trio Analysis Reveals Rare Variants Associated with Congenital Pouch Colon.

Anorectal malformations (ARM) are individually common, but Congenital Pouch Colon (CPC) is a rare anorectal anomaly that causes a dilated pouch and communication with the genitourinary tract. In this work, we attempted to identify de novo heterozygous missense variants, and further discovered variants of unknown significance (VUS) which could provide insights into CPC manifestation. From whole exome sequencing (WES) performed earlier, the trio exomes were analyzed from those who were admitted to J.K. Lon Hospital, SMS Medical College, Jaipur, India, between 2011 and 2017. The proband exomes were compared with the unaffected sibling/family members, and we sought to ask whether any variants of significant interest were associated with the CPC manifestation. The WES data from a total of 64 samples including 16 affected neonates (11 male and 5 female) with their parents and unaffected siblings were used for the study. We examined the role of rare allelic variation associated with CPC in a 16 proband/parent trio family, comparing the mutations to those of their unaffected parents/siblings. We also performed RNA-Seq as a pilot to find whether or not the genes harboring these mutations were differentially expressed. Our study revealed extremely rare variants, viz., TAF1B, MUC5B and FRG1, which were further validated for disease-causing mutations associated with CPC, further closing the gaps of surgery by bringing intervention in therapies.

Does Cognitive Therapy Change the Early Maladaptive Schemas in Individuals with Alcohol Dependence? Evidence from a Randomized Controlled Trial.

Background: Although early maladaptive schemas (EMSs) have been suggested as potential vulnerability markers for alcohol dependence (AD), there is less emphasis on addressing these schemas in substance abuse treatment programs. We thus aimed to examine the change in schemas in response to cognitive therapy in individuals with AD. Methods: In this an open-label randomized controlled study, individuals with alcohol dependence syndrome (ADS, n = 84) were randomized to the intervention group (n = 45), which received six cognitive therapy sessions combined with treatment as usual (TAU), or the control group (n = 39), which was on TAU only. Participants were assessed on the measures of EMSs, alcohol use severity, and perceived stress at baseline and posttreatment. Results: The intervention group showed significant improvement in 5 out of 18 EMSs, that is, emotional deprivation, defectiveness, self-sacrifice, unrelenting standard, and negativity, compared to the control group, at the end of the treatment. There was a significant between-group effect for perceived stress but not for alcohol use severity. Conclusion: EMSs can be changed with cognitive therapy in individuals with AD and could be a crucial area to address in treatment programs. Further studies with long-term follow-up are warranted. The trial was registered with the Clinical Trials Registry-India (CTRI/2015/12/006441) on December 17, 2015.

Neuroblastic tumours in children: Outcome from a referral centre in India.

Background: There is a paucity of uniform literature on the outcome of children with neuroblastic tumours from developing countries. This study aims to present the outcome in children having neuroblastic tumours. Materials and Methods: We retrospectively reviewed patients with neuroblastic tumours from January 2014 to March 2020. Data analysed were pertaining to the age, sex, presentation, site, stage, diagnostic evaluation performed, management and follow-up results, etc., The final outcomes were assessed as complete response; partial response (PR); no response (NR) and progressive disease. International Neuroblastoma Risk Group staging was used and patients were categorised on the basis of age, site and stage of tumour. Overall survival (OS) was calculated from the date of diagnosis to the date of last follow-up and event for OS was death. Results: Forty-seven patients were included with median age of 60 months (ranges of 2-180; mean = 61.87 ± 47.56). About 72.3% (n = 34) patients were males. Out of total, 6.4% (n = 3), 53.2% (n = 25) and 38.3% (n = 18) were in stage L1, L2 and M, respectively, whereas 2.1% (n = 1) patients were in stage MS. Surgery was performed in 25 (53.19%) patients, but gross total excision was achieved in 48.90% (n = 23) patients. Onlu 10.60% (n = 5) patients were referred, whereas 14.89% (n = 7) patients reported recurrences. Mean and median follow-up time of the patients was 24.64 ± 16.04 and 18 months (range: 3-60 months). Out of total, 53.2% (n = 25) and 29.8% (n = 14) patients had complete and PRs, respectively, whereas 17% (n = 8) patients had NR. Out of the total 47 patients, 8 (17%) achieved events (deaths), whereas the rest, 39 (83%) patients, were censored. Mean event-free OS time was 50.04 months. Conclusion: There was a significant difference in patient deaths in recurrence and non-recurred patients (4/7, 57.1% vs. 4/40/, 10%, P = 0.011). Survival time was significantly higher in patients with stages L1-L2 as compared to Stage 4. Stage and age were found predictors of survival.