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Abstract Sexual dysfunction (SD) is a common non-motor symptom in people with Parkinson’s disease (PD) yet underreported and undertreated specifically in many ethnic PD groups because of religious, social and personal perceptions. We conducted the first single-centre cross-sectional study in the United Arab Emirates of SD in 513 consecutive patients who agreed to complete the survey questionnaires. Data was collected on SD using the Nonmotor Symptoms Scale (NMSS), Index of Erectile Function, and Female Sexual Function Index. Our results show that the non-Emirati group had higher NMSS-SD scores than the Emirati group. SD was reported independent of ethnicity, race and disease stage (p

Abstract Hypertension is a significant public health concern and a modifiable risk factor for increased mortality worldwide. It is reported to be influenced by gene-environment interactions and micronutrient intake. This study aims to understand the relationship between global DNA methylation levels and hypertension, independently and in the context of micronutrient status, among rural population in Punjab, India. A total of 2300 individuals, aged 30–75 years, (54.9% females) were screened for blood pressure. Of 2300 screened individuals, 900 (age sex matched 450 cases and 450 controls of hypertension) individuals were selected to examine the relationship between hypertension, global DNA methylation (5mC), and biochemicals (Folate, Vitamin B12, and Homocysteine). Folate, vitamin B12, and homocysteine levels were estimated using chemiluminescence technique. The ELISA-based colorimetric technique was used for performing peripheral blood leucocyte (PBL) global DNA methylation (5mC). Statistical analyses were performed using SPSS version 22.0. Hypertensives were found to have significantly lower levels of global DNA methylation than normotensives (0.65 vs. 0.72 respectively; p-value = 0.01*). Individuals in the 1st quartile of 5mC were at significantly (OR: 1.671; 95% CI: 1.206–2.315; p-value = 0.01*) increased risk for hypertension in comparison to those in the 4th quartile (reference). Further hypertensives on medication with controlled blood pressure (BP) were significantly hypermethylated as compared to hypertensives on medication with uncontrolled BP (0.70 vs. 0.62 respectively; p-value = 0.04*). Folate appeared to mediate global DNA methylation among hypertensives on medication-controlled BP. Further hypertension driven hypomethylation hints towards accelerated biological aging among younger hypertensives. Hypertension may be associated with Global DNA hypomethylation in the studied rural population of Punjab, India. Folate sufficiency may prove to be an aid in improving the methylation levels among the cases of hypertension who were on medication and had controlled BP.

Background: In the intricate landscape of healthcare amid the COVID-19 pandemic, the emergence of mucormycosis as a severe complication posed a significant challenge to primary healthcare. This study delved into the complexities of adverse drug reactions (ADRs) in COVID-19 patients with mucormycosis undergoing treatment with conventional amphotericin B. Methods: Ethically approved and meticulously conducted, the study scrutinized 154 ADRs in depth, shedding light on their classification, outcomes, and interventions in COVID patients with mucormycosis. A descriptive analysis was carried out to report the findings of this study. Results: The findings revealed that a substantial proportion (85.6%) of these ADRs were manageable, emphasizing the need for vigilant monitoring and timely interventions. Notably, gender disparities surfaced, indicating potential gender-specific responses to amphotericin B. Causality assessments based on the WHO-UMC scale classified the majority of ADRs as certain, providing a robust foundation for understanding the intricate relationships between amphotericin B and the observed adverse events. Conclusion: This research not only categorizes ADRs as preventable and manageable but also offers practical insights into their nature and the diverse strategies employed for their management. The study’s outcomes underline the importance of personalized healthcare approaches that can be adopted by primary care physicians for effective patient care.

Abstract The present study investigated the relationship between MSH3 and MSH6 genes in lung cancer patients. Genotyping of lung cancer patients and healthy controls was performed. Odds ratio values were calculated and survival analysis performed. Patients with mutant genotype (TT) for MSH6 polymorphism have 1.5-fold risk for the development of lung cancer (p = 0.03). For non-smokers, the mutant-type genotype had a threefold increased risk of lung cancer (p = 0.01). Patients administered with docetaxel and carbo/cisplatin and carrying GT genotype for MSH6 polymorphism, patients reported a decrease in median survival time (4.9 vs 9.13 months). MSH3 and MSH6 polymorphisms are involved in modulating the risk towards lung cancer. MSH6 polymorphism is associated with high mortality rate for patients undergoing cisplatin and docetaxel chemotherapy.

Veterinary practitioners often prescribe many controlled drugs to animals that may include sedatives, tranquilizers, and painkillers. Unfortunately, many of these drugs are drugs that can be abused by humans, especially among the pet owners. Adequate measures are required to prevent or detect the misuse of veterinary drugs. In this article, the phenomenon of the rising misuse of veterinary medications by humans and their potential health hazards which can accompany the unsettling trends in society has been highlighted. This article aims to shed light on the extent of issues, exploring reasons behind human abuse and its consequences.

Abstract Background Though next-generation sequencing (NGS) tests like exome sequencing (ES), genome sequencing (GS), and panels derived from exome and genome data (EGBP) are effective for rare diseases, the ideal diagnostic approach is debated. Limited research has explored reanalyzing raw ES and GS data post-negative EGBP results for diagnostics. Results: We analyzed complete ES/GS raw sequencing data from Mayo Clinic's Program for Rare and Undiagnosed Diseases (PRaUD) patients to assess whether supplementary findings could augment diagnostic yield. ES data from 80 patients (59 adults) and GS data from 20 patients (10 adults), averaging 43 years in age, were analyzed. Most patients had renal (n=44) and auto-inflammatory (n=29) phenotypes. Ninety-six cases had negative findings and in four cases additional genetic variants were found, including a variant related to a recently described disease (RRAGD-related hypomagnesemia), a variant missed due to discordant inheritance pattern (COL4A3), a variant with high allelic frequency (NPHS2) in the general population, and a variant associated with an initially untargeted phenotype (HNF1A). Conclusion: ES and GS show diagnostic yields comparable to EGBP for single-system diseases. However, EGBP's limitations in detecting new disease-associated genes underscore the necessity for periodic updates.

Objective: Mastalgia is the most common breast-related complaint. A multitude of hormonal changes and lifestyle associated factors have been implicated in its causation. A long list of treatment modalities have been tried with varying success rates. To identify the most common risk factors and the most effective management strategies for mastalgia in our clinic population. Materials and Methods: A total of 100 women between 18–65 years of age presenting to the breast clinic with mastalgia were followed throughout their course of diagnosis and management. Stepwise treatment was provided, starting with reassurance and breast support and progressing to include pharmacological measures, when necessary. The risk factors and outcomes of treatment were analysed. Results: The majority (66%) were aged 25–47 years and the left breast was found to be most frequently involved. Involvement of the upper outer quadrant was significantly more common. Lump/nodularity was the most prevalent risk factor. Most patients showed a positive response to non-steroid anti-inflammatories (NSAIDs) in addition to reassurance, breast support and dietary changes. Conclusion: A detailed history and clinical examination helps to identify the risk factors and the best approach for the management of mastalgia. Educating women regarding breast self-examination at regular intervals helps in early presentation and diagnosis of the underlying condition. Reassurance, breast support and lifestyle changes are the first line treatment and have good results in a significant number of patients. In our practice topical and oral NSAIDs, evening primrose oil and vitamin E were frequently used as additional treatments to non-pharmacological methods.

Background Aging is a non-modifiable risk factor for neurodegenerative disease. It is well established that the brain undergoes physiological atrophy with age. So, this study was conducted to analyse the correlation between the age of the person and the size of the various subcortical nuclei of the brain and whether these measurements can serve as a useful indicator for physiological atrophy leading to degenerative disease in clinical practice. Methods A total of 600 MRI scans from healthy individuals were examined and the measurements of subcortical nuclei were taken and subsequently analysed. Results A statistically significant difference between the genders was observed in the sizes of the axial diameters of caudate nucleus, putamen and globus pallidus. Caudate nucleus transverse diameter showed a moderate negative correlation with age in males. Globus pallidus axial diameter with age showed weak positive correlation for males. Globus pallidus transverse diameter showed weak positive correlation with age for both males and females, but it was stronger for males compared to females. Conclusions These results will help neurologists and neurosurgeons in analysing various early degenerative diseases and treat them accordingly.

Introduction: Newer second-generation Supraglottic Airway Devices (SADs) are easy to insert and provide a smooth induction of anaesthesia with minimal haemodynamic pressor response. The paediatric I-gel and Ambu AuraGain are newer SADs that are increasingly being used as alternatives to endotracheal intubation in the paediatric population. Aim: To compare the clinical performance of I-gel and Ambu AuraGain in children undergoing general anaesthesia with respect to ease of insertion, haemodynamic changes, and the frequency and severity of postoperative sore throat. Materials and Methods: This randomised clinical study included 100 children aged 2 to 10 years, belonging to American Society of Anaesthesiologists (ASA) Grade I and II, scheduled for elective surgery under general anaesthesia. They were randomly allocated to Group I (I-gel) and Group A (Ambu AuraGain), comprising 50 patients each. The time taken for SAD placement, the number of attempts, ease of insertion, and the requirement of additional airway manipulations during insertion were observed. Haemodynamic Parameters Heart Rate (HR), Systolic Blood Pressure (SBP), Diastolic Blood Pressure (DBP), Mean Arterial Pressure (MAP), SpO2 , and End-tidal Carbon Dioxide [ (EtCO2 ) ]) during the procedure were observed. The frequency and severity of postoperative sore throat were assessed between both groups. Descriptive statistics were applied to all data and reported in terms of mean, Standard Deviation (SD), and percentages, and appropriate statistical tests of comparison were applied. Results: In this study, the demographic data of patients, such as age, weight, gender, and ASA status, were comparable in both groups. There was no statistically significant difference in the time taken for successful SAD placement and the number of attempts required to do the same. Ambu AuraGain was easier to insert than I-gel (p-value

Abstract Advanced Parkinson’s Disease (APD) is complicated by the emergence of motor and non-motor fluctuations, which are initially predictable and eventually become unpredictable, in part due to erratic gastric absorption and short half of oral levodopa. Attempts to manage such fluctuations with oral dopaminergic drugs often lead to disabling dyskinesias. Continuous Subcutaneous Apomorphine Infusion (CSAI), despite being approved for the treatment of APD since 1993, was approved in India only in 2019. We studied the safety, tolerability and efficacy of CSAI in Indian patients with APD in a registry design to raise local awareness of this important treatment. We conducted a prospective registry-based observational audit at 10 centers across different states of India. Patients with APD, not responding to or with significant side effects from oral dopaminergic therapy, were assessed at baseline and at month 6 and 12 following CSAI infusion. Fifty-one patients completed the study, CSAI significantly reduced the functional impact of dyskinesia (p

Background: Schizophrenia is one of the most perplexing of all brain conditions due to its persistent and severe psychotic manifestations with variable cognitive dysfunction. The pathophysiology of schizophrenia being unknown, the fact that brain circuits are involved and the areas frequently affected being the limbic system, forebrain, and the hindbrain becomes a fertile area for exploration. Aim: The aim was to study the frontal lobe alterations in patients of schizophrenia. Materials and Methods: A cross-sectional, analytical, and comparative study was done in a tertiary care medical college and research center. Forty patients of schizophrenia with 40 age- and sex-matched healthy individuals were included in the study after informed consent and an institutional ethical clearance. Self-made demographic and clinical questionnaire, the Positive and Negative Syndrome Scale, Frontal Assessment Battery (FAB), Stroop test, and Wisconsin Card Sorting Test (WCST) were applied to all the subjects. Results: A significant difference in cognitive impairment was found in patients as compared to controls, seen by a poor performance of patients in FAB and WCST along with a higher Stroop effect. Duration of illness, family history of psychiatric illness, number of episodes, and comorbid substance use were found to be positive predictors of higher cognitive impairment. Conclusion: There is a significant level of frontal lobe dysfunction seen in patients of schizophrenia on Stroop test, FAB, and WCST. Family history of psychiatric illness and substance use, especially tobacco, are the factors worsening cognitive dysfunction, while education plays a protective role.

Abstract Background In the United States, rare disease (RD) is defined as a condition that affects fewer than 200,000 individuals. Collectively, RD affects an estimated 30 million Americans. A significant portion of RD has an underlying genetic cause; however, this may go undiagnosed. To better serve these patients, the Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD) was created under the auspices of the Center for Individualized Medicine (CIM) aiming to integrate genomics into subspecialty practice including targeted genetic testing, research, and education. Methods Patients were identified by subspecialty healthcare providers from 11 clinical divisions/departments. Targeted multi-gene panels or custom exome/genome-based panels were utilized. To support the goals of PRaUD, a new clinical service model, the Genetic Testing and Counseling (GTAC) unit, was established to improve access and increase efficiency for genetic test facilitation. The GTAC unit includes genetic counselors, genetic counseling assistants, genetic nurses, and a medical geneticist. Patients receive abbreviated point-of-care genetic counseling and testing through a partnership with subspecialty providers. Results Implementation of PRaUD began in 2018 and GTAC unit launched in 2020 to support program expansion. Currently, 29 RD clinical indications are included in 11 specialty divisions/departments with over 142 referring providers. To date, 1152 patients have been evaluated with an overall solved or likely solved rate of 17.5% and as high as 66.7% depending on the phenotype. Noteworthy, 42.7% of the solved or likely solved patients underwent changes in medical management and outcome based on genetic test results. Conclusion Implementation of PRaUD and GTAC have enabled subspecialty practices advance expertise in RD where genetic counselors have not historically been embedded in practice. Democratizing access to genetic testing and counseling can broaden the reach of patients with RD and increase the diagnostic yield of such indications leading to better medical management as well as expanding research opportunities.

Abstract Objective Alu repeats have gained huge importance in the creation and modification of regulatory networks. We previously reported a unique isoform of human CYP20A1 i.e. CYP20A1_Alu-LT with 23 Alu repeats exonized in its 9 kb long 3’UTR with 4742 potential binding sites for 994 miRNAs. The role of this transcript was hypothesized as a potential miRNA sponge in primary neurons as its expression correlated with that of 380 genes having shared miRNA sites and enriched in neuro-coagulopathy. This study provides experimental evidence for the miRNA sponge activity of CYP20A1_Alu-LT in neuronal cell lines. Results We studied the Alu-rich fragment of the CYP20A1_Alu-LT extended 3’UTR with > 10 binding sites for miR-619-5p and miR-3677-3p. Enrichment of the Alu-rich fragment with Ago2 confirmed miRNA association of this transcript. Cloning the fragment downstream of a reporter gene led to a 90% decrease in luciferase activity. Overexpression and knockdown studies revealed a positive correlation between the expression of CYP20A1_Alu-LT and miR-619-5p / miR-3677-3p target genes. GAP43, one of the key modulators of nerve regeneration, was significantly altered by the expression of CYP20A1_Alu-LT. This study, for the first time, provides evidence for a unique regulatory function of exonized Alu repeats as miRNA sponges.

Background: Stigma toward mental illness is a pervasive concern that impacts the way psychiatric disorders are perceived. Aim: This study was aimed to evaluate the stigma experienced by patients visiting a psychiatric care facility and the associated factors contributing to the development of stigma. Methodology: 150 patients presenting to Psychiatry outpatient department of a tertiary care centre were screened using Mini international neuropsychiatric interview questionnaire to segregate patients into various psychiatric groups. These patients were further assessed for the degree of stigma utilizing the Stigma scale and Internalized Stigma of Mental Illness-10. Results: 60.7% of the participants reported facing discrimination, which was highest in those with mania. 67.3% patients preferred not to disclose their illness, especially those with psychotic disorders. Eighty-six percent did not expect any positive results from their illness, most of them with psychotic disorders. 68.7% of the patients experienced total stigma, highest in mania. Sixty-four percent experienced high internalized stigma mostly in mania. Stigma was irrespective of age, sex, education, employment, and family type. Conclusion: A large segment of participants in the study sample claimed to have suffered from stigma, i.e., they faced discrimination, preferred not to reveal information about their illness, denied any positive outcomes from their illness, and endured self-stigma owing to their illness. Patients with mania faced the most discrimination, total stigma, and internalized stigma whereas disclosure and positive aspects were mostly in psychotic disorders. High levels of stigma observed are a barrier to availing mental health-care facilities.

Background: Literally, stigma “is a mark of disgrace associated with a particular circumstance, quality, or person” which has an impact on the physical, social and emotional health of not just the patient but also their caregivers. There is a paucity of research assessing the prevalence and impact of stigma among the caregivers of these patients. Aim: To assess the perceived stigma among caregivers of psychiatric disorders as compared to chronic dermatological disorders. Materials and Methods: By purposive sampling, 60 patients with psychiatric disorders and 60 chronic dermatological disorders were included in the study with their written informed consent. For diagnosis of psychiatric disorders International Classification of Diseases 10 Diagnostic Criteria for Research criteria was used. The diagnosis of dermatological disorders was made by the dermatologist. Patients with chronic visible dermatological disorders were selected. The caregivers of the patients after informed consent were included in the study. Their sociodemographic proforma was filled, and then Discrimination and stigma scale (DISC) and Explanatory Model Interview Catalogue (EMIC) stigma scale were applied to the two groups. The scores were analyzed using the SPSS. Results: Caregivers of patients with psychiatric disorders had significantly higher scores compared to caregivers of chronic dermatological disorder patients on the EMIC and DISC scales. Conclusion: Perceived stigma was found to be high in caregivers of both patients of psychiatric disorders and chronic dermatological disorders. It was seen that the stigma was higher in the caregivers of patients with psychiatric disorders.

Background: Schizophrenia leads to impaired functioning in several domains of life: socioeconomic, personal, and professional. The disorder is complex that impacts thought process, loss of touch with reality, cognitive as well as sexual dysfunction. The taboos around sexual functioning in India are immense and the data pertaining to sexual dysfunction in women in particular are scarce and even lesser for women with schizophrenia. Aim: This study aimed to study the prevalence of sexual dysfunction in women with schizophrenia. Materials and Methods: Seventy women diagnosed with schizophrenia along with age- and sex-matched disorder-free control group were taken as the participants of this study. The participants were assessed with Arizona Sexual Experience Scale (ASEX), and Female Sexual Functioning Index (FSFI) for both the groups and Brief Psychiatric Rating Scale (BPRS) in the index group. Results: A significant difference was found between the ASEX and FSFI scores between the index and control groups, and a significant correlation was found between ASEX and FSFI scores with BPRS scores. Conclusion: Women with schizophrenia have a high prevalence of sexual dysfunction. There was a high association seen between schizophrenia and sexual dysfunction in females with a strong relationship in almost all the areas of sexual functioning (that is desire, arousal, lubrication, orgasm, satisfaction, and pain). More sexual dysfunction was observed in higher severity of schizophrenia, less education, and lower socioeconomic status.

Objectives The study aimed to compare early molecular response (EMR) rates at 3 months of imatinib therapy with and without vitamin D3 supplementation in patients newly diagnosed with chronic-phase chronic myeloid leukaemia (CML-CP). The secondary objective was to assess the effects of vitamin D3 on complete haematological response (CHR) and its safety.Design Double-blind, placebo-controlled, exploratory randomised trial.Setting Tertiary care hospital in northern India.Participants Treatment-naive patients with chronic phase chronic myeloid leukaemia (n=62) aged >12 years were recruited from January 2020 to January 2021. Patients with progressive disease, pregnancy and hypercalcaemia were excluded.Intervention Oral vitamin D3 supplementation (60 000 IU) or matched placebo was given once weekly for an initial 8 weeks along with imatinib after randomisation with 1:1 allocation ratio.Primary and secondary outcome measures The primary outcome was to compare EMR (defined as BCR-ABL1 transcript level ≤10%, international scale) at 3 months. The secondary outcomes were to compare effect of the intervention on CHR, correlation of 25(OH)2D3 levels with treatment response and safety according to Common Terminology Criteria for Adverse Events (CTCAE) version 5.Results At baseline, 14.5% of the patients had normal vitamin D3 levels. EMR at 3 months was attained in 24 patients (82.7%) of the vitamin D3 group and 21 (75%) of the placebo group (OR 1.6, 95% CI 0.37 to 7.37, p=0.4). A significant difference in vitamin D3 levels from baseline to the end of study was observed. Patients with vitamin D3 supplementation did not achieve higher CHR in comparison with placebo (OR 1.3, 95% CI 0.25 to 7.23, p=1.0). Vitamin D3 levels were not significantly correlated with BCR-ABL1 levels. No dose-limiting toxicities were observed.Conclusion Vitamin D3 levels were low among patients with CML-CP in this study. Vitamin D3 supplementation with imatinib therapy did not have significant effect on EMR or CHR. Further clinical trials could be undertaken to assess the effective dosage and duration of vitamin D3 supplementation in these patients.Trial registration number CTRI/2019/09/021164.

Objective: Observation and comparison of resolution of signs and relief of symptoms in patients of Vernal Keratoconjunctivitis (VKC) treated with 0.1% olopatadine eye drops or 1.5% bepotastine besilate eye drops. Materials and Methods: It was a prospective observational study of 60 patients of VKC from January 2018 to July 2019. Thirty confirmed cases of VKC were included in the study in each group. One group received 0.1% olopatadine eye drops and second group received 1.5% bepotastine besilate eye drops and were followed up for a period of 4 weeks. The main outcome measures were scoring and comparison of Total subjective symptom scores (TSSS) and Total objective sign scores (TOSS) within and between the groups at each follow up. Wilcoxon rank-sum test (Mann Whitney U test) was used to compare the two groups in terms of symptom and sign score at each of the time points. Friedman test was used to explore the change in score over time within each group. Generalized Estimating Equations method was used to explore the difference in change in score between the two groups over time. A p value of < 0.05 was considered statistically significant. Results: With treatment both TSSS and TOSS decreased consistently in both groups at the end of the two week and four week follow up time points. P Value of Comparison of the Two Groups in Terms of Difference of Subjective Score Total from Baseline to Follow-up Time points was statistically significant (P

Introduction: Behavioural preparedness is the process of preparing patients for the psychological and emotional challenges that may be encountered during and after surgery. This can include providing education about the surgical procedure and postoperative recovery, as well as training in coping strategies and techniques to manage anxiety, fear, and other negative emotions. Prior sensitisation is a form of behavioural preparedness that involves providing patients with information about the potential outcomes of their surgery in advance, in order to help them better understand and prepare for potential challenges. It has been suggested that providing this type of education and training may reduce patient anxiety, increase co-operation with medical staff, and improve recovery, potentially leading to shorter hospital stays and reduced medication needs. Aim: To assess the effects of behavioural preparedness and prior sensitisation on psychological aspects, recovery outcomes, and user satisfaction in patients undergoing abdominal surgeries. Materials and Methods: The study will be undertaken on patients in the Inpatient Department (IPD) of Department of Surgery in a rural tertiary care hospital in central India, during a period spanning two months. All adult patients (aged 18-60) undergoing elective abdominal surgical procedures under anaesthesia in the IPD of surgery will be eligible. The patients will be randomly selected and interviewed preoperatively, dividing them into two groups those receiving the intervention and those receiving standard care with no intervention. The investigator will provide an oral presentation to the intervention group regarding their recovery outcomes and expectations. Subjects will be evaluated with a Visual Analog Scale (VAS) scale for pain, RAND Short Form health Survey (SF-36) questionnaire for physical mobility, RAND Patient Satisfaction Questionnaire III (PSQ-18) instrument for user satisfaction, length of hospital stay and analgesic switchover time on a survey form and the Spielberger State-Trait Anxiety Inventory (STAI) forms Y1 and Y2 for comparison of preoperative and postoperative negative affects. Effects of the intervention on recovery outcomes will be compared via the Chi-square test, the Mann-Whitney U test for comparison of qualitative data between the two groups and the Student’s Unpaired t-test for comparison of quantitative data between the groups. Wilcoxon’s Signed Rank test and the Student’s paired t-test will be used for analysing qualitative and quantitative input between preoperative and postoperative states. Conclusion: The study seeks to determine if a significant difference occurs from providing patients withprior knowledge about their outcomes and establishing the benefits of psychological preparedness as a cost-effective method in improving outcomes and postoperative recovery.

Aim: Hemangioendotheliomas (HEs) are malignant vascular tumors with sparse descriptions in literature owing to their rarity. Study design: Ours is a retrospective study among patients of advanced HEs registered between September 2015 and April 2021. Results: There were 13 patients with median age 34.6 (range: 4–69 years), male preponderance (69%) and predominant subtype of epithelioid HE (76.9%). Common primary sites were viscera (46.2%) and bone (30.8%). Tyrosine kinase inhibitors (TKIs) yielded objective responses in 30% patients whereas chemotherapy only produced disease stabilization in 7.7%. Conclusion: We recognize an aggressive subset of HEs with manifestations such as acute liver failure and splenic rupture. Currently no biomarkers predict the efficacy of TKIs over chemotherapy; however, TKIs showed promising outcomes in this series.

Aim: Clinicopatholgical findings and outcomes in epithelioid sarcoma (ES) patients. Materials & methods: ES patients registered in sarcoma clinic from 2015 to 2021. Results: There were 20 patients with median age of 26 years. Majority had distal ES (70%) and advanced disease (85%). In patients with advanced disease lymph nodes were involved in 65%, lungs in 58% and others in 35%. Among 14 patients who underwent biopsy outside our institute, nine (64.2 %) had been initially misdiagnosed. Response rates to doxorubicin (n = 12), pazopanib (n = 6), gemcitabine/docetaxel (n = 5), tazemetostat (n = 3) and immunotherapy (n = 2) used in various lines were 16, 16, 20, 33 and 0%, respectively. Conclusion: Our patients had an advanced-stage and distal ES, with a modest response to chemotherapy.

Context and Aim: Safety of drug usage during pregnancy is of utmost importance. Unrestricted usage of drugs may lead to undesirable and unpredictable pregnancy outcomes. This study was designed to detect drug-related adverse pregnancy outcomes, perform prescription audit and develop a pregnancy drug registry. Methods and Materials: A prospective observational study was conducted at a tertiary care hospital in northern India. Pregnant females attending antenatal clinic, irrespective of their duration of pregnancy were included in the study over a period of 1 year. The participants were followed up monthly during their pregnancy till the pregnancy outcome. Adverse pregnancy outcomes were evaluated and causality assessment was done using the WHO-UMC scale. Statistical Analysis: Descriptive and inferential statistical tools were used for appropriate variables. Regression model was used to establish relationship between factors proposed to be responsible for adverse pregnancy outcomes. Presence of adverse pregnancy outcome was used as an independent variable. Microsoft Excel and Strata (version 12) were used for statistical analysis. Results: A total 326 pregnant women were screened out of which 305 were included in the final analysis. Mean age of participants was 27.82 (±4.51) years. Pre-existing comorbidities were present in 4.26% of participants. Average number of drugs per participant was 6.32 (±1.94). Most drugs prescribed to participants were from FDA category B (49.23%) and category A (33.60%). Mean ADR reported per patient was 1.16 (±1.18) with involvement of musculoskeletal (56.42%) and gastrointestinal (7.16%) being most frequent. Adverse pregnancy outcomes were reported in 25 participants among which IUGR (24%) followed by IUD (20%) and ectopic pregnancy (16%) were most frequently observed. Multivariate logistic regression showed number of comorbidities (P = 0.037) and number of drugs consumed during pregnancy (P = 0.02) to be statistically significantly associated with occurrence of adverse pregnancy outcome. Conclusions: Pregnancy registries have been instrumental in detection of signals for further research in drug-related adverse outcomes. Inappropriate usage of drugs has been shown to be associated with adverse pregnancy outcomes. Our study warrants need for further well-designed studies on adverse pregnancy outcomes in larger patient populations.

Aim: To study the role of check point inhibitors (CPI) in sarcoma and gastrointestinal stromal tumors. Materials & methods: Retrospective data of 15 patients diagnosed with advanced sarcoma or gastrointestinal stromal tumors and treated with CPI. Results: 3/14 patients (21.4%) responded to treatment with a disease control rate of 42.8% (6/14). After a median follow-up of 14 months (range: 2–24 months), 11 (73.3%) patients progressed, the median progression-free survival was 4 months (95% CI: 1.7–6.3) and median overall survival was 14 months (95% CI: 2.6–25.7). Only one patient experienced a grade IV adverse event. Conclusion: Our data represent the first real-world application of CPI in sarcoma from India. We believe that CPI should be further evaluated in clinical trials.

Background: Anorectal melanoma (AM) is a rare subtype of melanoma. Aim: To study the clinic–pathologic features and outcomes in patients with AM. Materials & methods: Clinical, pathologic findings and outcomes of patients with AM were recorded. Results: Twenty-seven patients with AM were identified with median age of 57 years. Most patients presented in stage III (44.4%). Lymph node involvement was seen in 70.4%. The response to chemotherapy and immunotherapy was 16.6 and 25.0%, respectively. At a median follow up of 11 months, median overall survival was 30 months. Ballantine stage 3 and weight loss at presentation were predictors of poor survival. Conclusion: AM presents at an advanced stage with lymph node and distant metastasis.

Aim: Dermatofibrosarcoma protuberans (DFSP) accounts for less than 2% of all soft-tissue sarcomas. Patients & methods: We retrospectively reviewed our database for patients with locally advanced or metastatic DFSP who had presented to our clinic between January 2016 and January 2020. Results: We identified a total of 14 patients, of whom ten had sarcomatous transformation. Eleven cases had metastatic disease and three were locally advanced. The initial partial response rate to first-line imatinib was 76.9% and the overall median progression-free survival on imatinib was 15 months. Conclusion: We had a high proportion of patients with sarcomatous transformation, in contrast to their relative rarity in the West. While most patients had initial good responses to imatinib, second-line therapies were not as effective.

Measles is a vaccine-preventable disease that continues to be a major cause of morbidity and mortality in children and young adults across the world. Immunization efforts have reduced the incidence of measles over the last 3 decades, but outbreaks are seen in high-transmission areas with susceptible populations, as is seen in hospitals and student campuses. The protection offered by prior vaccination may wean off over time making vaccinated individuals susceptible to infection. Hence, catch-up immunization drives should be undertaken for vulnerable populations such as healthcare personnel, along with routine immunization programs, with the goal to eliminate measles in the future. This case series presents measles in two of our medical residents who got infected despite being vaccinated in childhood.

Psychogenic nonepileptic seizures (PNES) are observable abrupt paroxysmal changes in consciousness or behaviour that present similar to epileptic seizures but are not accompanied by the electrophysiological changes associated with epilepsy and there is a strong suspicion or positive evidence for existence of a psychogenic cause. There is no single feature that absolutely distinguishes true epileptic events from psychogenic nonepileptic seizures and hence there is considerable diagnostic uncertainty for the condition. This is well evidenced by the fact that there is an average delay of approximately 7 years before the right diagnosis of ‘psychogenic seizures’ is achieved. Hence, this leads to an enormous social and economic burden on the society with costs incurred upon ‘PNES’ approximating that of refractory epilepsy group. This review focusses on the salient clinical pointers to the condition along with possible diagnostic and treatment strategies.

Inflammatory myofibroblastic tumors (IMT) are rare soft tissue tumors of intermediate malignant potential occurring usually in children and adolescents. Treatment options for advanced diseases are limited. A 35-year-old lady presented to us with fever, cough and decreased appetite. On evaluation, she was diagnosed with left lung IMT. She underwent surgery and developed recurrence with pleural nodules after two years. Immunohistochemistry showed positivity for ALK (diffuse). Since recent evidence suggested that crizotinib is effective in advanced IMT with 50% response rates, she was treated with crizotinib 250mg BD with which she had a complete radiological response at three months. She has completed one year of treatment thus far and continues to be in complete remission. Treatment with ALK inhibitors like crizotinib has brought about a paradigm shift in the management of advanced ALK-positive IMT’s with excellent clinical responses which are durable in a majority of cases.

Wasting in children under-five is a form of acute malnutrition, a predictor of under-five child mortality and of increased risk of future episodes of stunting and/or wasting. In India, national estimates of wasting are high compared to international standards with one in five children found to be wasted. National surveys are complex logistical operations and most often not planned or implemented in a manner to control for seasonality. Collection of survey data across differing months across states introduces seasonal bias. Cross-sectional surveys are not designed to collect data on seasonality, thus special methods are needed to analyse the effect of data collection by month. We developed regression models to estimate the mean weight for height (WHZ), prevalence of wasting for every month of the year for an average year and an overall weighted survey estimates controlling for the socio-demographic variation of data collection across states and populations over time. National level analyses show the mean WHZ starts at its highest in January, falls to the lowest in June/August and returns towards peak at year end. The prevalence of wasting is lowest in January and doubles by June/August. After accounting for seasonal patterns in data collection across surveys, the trends are significantly different and indicate a stagnant period followed by a decline in wasting. To avoid biased estimates, direct comparisons of acute malnutrition across surveys should not be made unless seasonality bias is appropriately addressed in planning, implementation or analysis. Eliminating the seasonal variation in wasting would reduce the prevalence by half and provide guidance towards further reduction in acute malnutrition.

Isolated lingual dystonia is a rare form of focal dystonia. Speech-induced primary lingual dystonia is rarer still, with only eight cases reported worldwide till date. It is a challenge to differentiate it from psychogenic dystonia. This has therapeutic implications as directed speech therapy is an important modality of treatment in speech-induced primary lingual dystonia. We report one such case from our clinical practice.

Selective serotonin reuptake inhibitors are considered to be low side effect profile drugs as compared to conventional antidepressants. The primary care physicians should be aware of the rare and depressing side effect of these drugs when they are prescribed in young, nonpregnant females. Mastalgia has been reported in

Mid-gestation fetal cutaneous wounds heal scarlessly and this has been attributed in part to abundant hyaluronan (HA) in the extracellular matrix (ECM) and a unique fibroblast phenotype. We recently reported a novel role for interleukin 10 (IL-10) as a regulator of HA synthesis in the fetal ECM, as well as the ability of the fetal fibroblast to produce an HA-rich pericellular matrix (PCM). We hypothesized that IL-10-mediated HA synthesis was essential to the fetal fibroblast functional phenotype and, moreover, that this phenotype could be recapitulated in adult fibroblasts via supplementation with IL-10 via an HA dependent process.To evaluate the differences in functional profile, we compared metabolism (MTS assay), apoptosis (caspase-3 staining), migration (scratch wound assay) and invasion (transwell assay) between C57Bl/6J murine fetal (E14.5) and adult (8 weeks) fibroblasts. We found that fetal fibroblasts have lower rates of metabolism and apoptosis, and an increased ability to migrate and invade compared to adult fibroblasts, and that these effects were dependent on IL-10 and HA synthase activity. Further, addition of IL-10 to adult fibroblasts resulted in increased fibroblast migration and invasion and recapitulated the fetal phenotype in an HA-dependent manner.Our data demonstrates the functional differences between fetal and adult fibroblasts, and that IL-10 mediated HA synthesis is essential for the fetal fibroblasts' enhanced invasion and migration properties. Moreover, IL-10 via an HA-dependent mechanism can recapitulate this aspect of the fetal phenotype in adult fibroblasts, suggesting a novel mechanism of IL-10 in regenerative wound healing.