448 results on '"Sud R"'
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152. Safety and Feasibility of Ultrasound-Guided Access for Coronary Interventions through Distal Left Radial Route.
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Ghose T, Kachru R, Dey J, Khan WU, Sud R, Jabeen S, Husain S, and Pant A
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- Coronary Angiography adverse effects, Coronary Angiography methods, Feasibility Studies, Hematoma etiology, Humans, Ultrasonography, Interventional adverse effects, Percutaneous Coronary Intervention adverse effects, Radial Artery surgery
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Aims: Left distal transradial arterial approach (ldTRA) is a new interventional route that spares right radial artery (RRA) for use in haemodialysis and as bypass graft. Vasant Kunj Left dIstal Transradial ArtEry approach (VKLITE) study aimed to assess the feasibility and safety of ldTRA access during coronary angiography (CAG) and percutaneous coronary intervention (PCI)., Methods and Results: Between April 2018 and June 2020, 108 patients were enrolled and underwent CAG ± PCI via ultrasound guided ldTRA. Arterial puncture, CAG, and PCI were successful in 96.3% (104/108), 92.1% (93/101), and 94.1% (32/34) patients, respectively. Access site crossover rate was 14/108 (13.0%). Mean puncture, procedure, and haemostasis time (minutes) were 6.7 ± 7.1, 55.7 ± 32.8, and 23.1 ± 11.9. Median total fluoroscopic time was 6.6 minutes (IQR-14.2), and median total radiation dose was 39.2 Gy-cm
2 (IQR-97.0). Local haematoma occurred in 11 patients (10.2%) with major haematoma in 1.9%, all recovering within three weeks. Mean pain score was 2.4 ± 2.3, and patient satisfaction score was 9.0 ± 1.3. LdTRA access compared with RRA access ( n = 121) showed significantly increased mean procedure time (55.7 ± 32.8 vs. 43.9 ± 26.0 minutes, p = 0.01) and median total fluoroscopic time (6.6 [IQR-14.2] vs. 4.7 [IQR-8.2] minutes, p = 0.02), with similar median total radiation dose (39.2 [IQR-97.0] vs. 43.8 [IQR-54.5] Gy-cm2 , p = 0.56). No radial artery loss, dissection, pseudoaneurysm, arteriovenous fistula, or nerve injury was noted., Conclusions: LdTRA access is feasible with few complications during CAG/PCI. Patient comfort and satisfaction makes it a desirable route for coronary interventions., Competing Interests: The authors declare that there are no conflicts of interest regarding the publication of this article., (Copyright © 2022 Tapan Ghose et al.)- Published
- 2022
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153. Gonadotropin-releasing hormone agonists in prostate cancer: A comparative review of efficacy and safety.
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Raja T, Sud R, Addla S, Sarkar KK, Sridhar PS, Talreja V, Jain M, and Patil K
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- Gonadotropin-Releasing Hormone, Goserelin adverse effects, Goserelin therapeutic use, Humans, Leuprolide adverse effects, Leuprolide therapeutic use, Male, Androgen Antagonists, Prostatic Neoplasms drug therapy
- Abstract
Androgen deprivation therapy (ADT) using gonadotropin-releasing hormone agonist (s) (GnRH-A) remains the backbone of advanced prostate cancer treatment. In this review, we assessed the efficacy, safety, and convenience of administration of various GnRH-A. All GnRH-A (goserelin, triptorelin, buserelin, histrelin, and leuprorelin) have comparable potential to suppress testosterone (T) levels (≤50 ng/dL in a month and ≤20 ng/dL in 3 months). However, goserelin has shown better efficacy in maintaining T levels ≤50 ng/dL compared with leuprolide. The incidences of T escape are lower with goserelin and leuprolide than buserelin. Goserelin also has maximum benefit in prostate-specific antigen suppression. In neoadjuvant setting, when only goserelin was used, the 10-year overall survival (OS) rate was 42.6% to 86%. When either goserelin or leuprolide was used, the 10-year OS rate was 62%. As an adjuvant to radical prostatectomy, goserelin had a 10-year survival rate of 87%, and triptorelin had an 8-year survival rate of 84.6%. Goserelin further showed an absolute survival rate of 49% when used as an adjuvant to radiotherapy. The survival rates further improved when GnRH-A are used as combined androgen blockade compared with monotherapy. The frequency and severity of adverse events (hot flushes, fatigue, sexual dysfunction) are comparable among the GnRH-A. Goserelin appears to be the most convenient of all the GnRH-A for administration. Lack of conclusive comparative evidence makes it imperative to have a holistic approach of considering the patient profile and the disease characteristics to select the appropriate GnRH-A for ADT in prostate cancer., Competing Interests: None
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- 2022
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154. Association of SAPAP3 allelic variants with symptom dimensions and pharmacological treatment response in obsessive-compulsive disorder.
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Naaz S, Balachander S, Srinivasa Murthy N, Ms B, Sud R, Saha P, Narayanaswamy JC, Reddy Yc J, Jain S, Purushottam M, and Viswanath B
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- Alleles, Animals, Genotype, Mice, Psychiatric Status Rating Scales, Selective Serotonin Reuptake Inhibitors, Nerve Tissue Proteins genetics, Obsessive-Compulsive Disorder drug therapy, Obsessive-Compulsive Disorder genetics
- Abstract
Though several SAPAP3 gene knockout studies in mice have implicated its role in compulsivity, human studies have failed to demonstrate its association with obsessive-compulsive disorder (OCD). We examined the association between allelic variants of a single nucleotide polymorphism in the SAPAP3 gene (rs6662980) with specific aspects of the OCD phenotype. A total of 200 individuals with OCD were genotyped using the TaqMan assay. All participants were assessed using the Mini International Neuropsychiatric Interview and the Yale-Brown Obsessive-Compulsive Scale, and their response to serotonin reuptake inhibitors (SRIs) was evaluated over naturalistic treatment and follow-up. After correcting for multiple comparisons, the G allele at rs6662980 was found to be associated with contamination and washing symptoms ( p = .003). Logistic regression analysis also showed that presence of the G allele predicted poor response to SRIs (odds ratio [ OR ] = 2.473, 95% confidence interval [1.157, 5.407], p = .021). Interaction between presence of the G allele and the Contamination and Washing factor score predicted greater SRI resistance ( OR = 3.654, [2.761, 4.547], p = .004). We conclude that specific phenotypic manifestations of OCD, which include contamination and washing-related symptoms along with resistance to SRIs, may be affected by variations in the SAPAP3 gene. Limitations of the study are the lack of a dimensional measure for assessing OCD symptoms, the evaluation of treatment response over naturalistic follow-up, and that only a single locus in the SAPAP3 gene was examined. (PsycInfo Database Record (c) 2022 APA, all rights reserved).
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- 2022
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155. Low skeletal muscle mass is associated with liver fibrosis in individuals with type 2 diabetes and nonalcoholic fatty liver disease.
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Kuchay MS, Choudhary NS, Gagneja S, Mathew A, Bano T, Kaur P, Bahadur B, Singh MK, Gill HK, Wasir JS, Sud R, and Mishra SK
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- Elasticity Imaging Techniques, Female, Humans, Male, Risk Factors, Diabetes Mellitus, Type 2 epidemiology, Liver Cirrhosis diagnostic imaging, Liver Cirrhosis epidemiology, Muscle, Skeletal diagnostic imaging, Muscle, Skeletal pathology, Non-alcoholic Fatty Liver Disease epidemiology
- Abstract
Background and Aim: Type 2 diabetes (T2D) and low skeletal muscle mass (SMM) are associated with increased risk of nonalcoholic fatty liver disease (NAFLD). However, data regarding the association between low SMM and NAFLD-related liver fibrosis in individuals with T2D are scarce. Therefore, we aimed to investigate the association between low SMM and liver fibrosis in individuals with T2D and NAFLD., Methods: Controlled attenuation parameter (CAP) of ≥ 248 dB/m was taken as cutoff suggesting NAFLD. Clinically relevant liver fibrosis and advanced liver fibrosis were defined as liver stiffness measurement (LSM) by transient elastography (TE) of ≥ 8.0 and ≥ 9.6 kPa, respectively. SMM was measured using dual energy X-ray absorptiometry (DEXA). Low SMM was defined as appendicular SMM index of < 7.0 kg/m
2 for men and < 5.4 kg/m2 for women., Results: Of the 487 consecutive patients with T2D, 366 (75.1%) had NAFLD. Among individuals with NAFLD, 118 (32.2%) and 64 (17.5%) had clinically relevant liver fibrosis and advanced liver fibrosis, respectively. Low SMM was diagnosed in 78 (21.3%) individuals with NAFLD. Patients with low SMM were older (56.1 vs 52.8 years) and had longer duration of diabetes (10.3 vs 8.1 years). Low SMM was an independent risk factor associated with clinically relevant liver fibrosis (P = 0.002) and advanced liver fibrosis (P ≤ 0.0001). Associations between low SMM and clinically relevant- and advanced liver fibrosis were maintained even after sequential adjustment for confounding variables through the multivariate regression analysis., Conclusions: Low SMM is independently associated with liver fibrosis in individuals with T2D and NAFLD., (© 2021 Journal of Gastroenterology and Hepatology Foundation and John Wiley & Sons Australia, Ltd.)- Published
- 2021
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156. Therapeutic Approaches in Modulating the Inflammatory and Immunological Response in Patients With Sepsis, Acute Respiratory Distress Syndrome, and Pancreatitis: An Expert Opinion Review.
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Mehta Y, Dixit SB, Zirpe K, Sud R, Gopal PB, Koul PA, Mishra VK, Ansari AS, and Chamle VS
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Immunomodulation has long been an adjunct approach in treating critically ill patients with sepsis, acute respiratory distress syndrome (ARDS), and acute pancreatitis (AP). Hyperactive immune response with immunopathogenesis leads to organ dysfunction and alters the clinical outcomes in critically ill. Though the immune response in the critically ill might have been overlooked, it has gathered greater attention during this novel coronavirus disease 2019 (COVID-19) pandemic. Modulating hyperactive immune response, the cytokine storm, especially with steroids, has shown to improve the outcomes in COVID-19 patients. In this review, we find that immune response pathogenesis in critically ill patients with sepsis, ARDS, and AP is nearly similar. The use of immunomodulators such as steroids, broad-spectrum serine protease inhibitors such as ulinastatin, thymosin alpha, intravenous immunoglobulins, and therapies such as CytoSorb and therapeutic plasma exchange may help in improving the clinical outcomes in these conditions. As the experience of the majority of physicians in using such therapeutics may be limited, we provide our expert comments regarding immunomodulation to optimize outcomes in patients with sepsis/septic shock, ARDS, and AP., Competing Interests: The authors have declared financial relationships, which are detailed in the next section., (Copyright © 2021, Mehta et al.)
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- 2021
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157. Indian scientists tackle the infodemic.
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Sud R
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- COVID-19 prevention & control, COVID-19 therapy, Health Knowledge, Attitudes, Practice, Humans, India epidemiology, SARS-CoV-2, COVID-19 epidemiology, Communication, Deception, Social Media
- Published
- 2021
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158. Prevalence of clinically relevant liver fibrosis due to nonalcoholic fatty liver disease in Indian individuals with type 2 diabetes.
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Kuchay MS, Choudhary NS, Mishra SK, Bano T, Gagneja S, Mathew A, Singh MK, Kaur P, Gill HK, Wasir JS, Sud R, and Mithal A
- Abstract
Background and Aim: Type 2 diabetes (T2D) in associated with higher prevalence and worse outcomes of nonalcoholic fatty liver disease (NAFLD). However, data regarding the prevalence of clinically relevant liver fibrosis (CRLF) in Indian individuals with T2D are scarce. We investigated the prevalence of, and factors associated with, CRLF in Indians with T2D., Methods: We conducted a prospective study of 601 consecutive adults with T2D. Steatosis was diagnosed using ultrasonography. Liver stiffness measurement (LSM) by transient elastography of ≥8.0 kPa was taken as cutoff suggesting CRLF. Individuals with LSM > 13.0 kPa underwent dynamic magnetic resonance imaging (MRI) of liver for detecting changes consistent with cirrhosis., Results: The prevalence of steatosis was 84.2%. Higher body mass index (BMI, P = 0.022), alanine aminotransferase (ALT; P = 0.001), and lower high-density lipoprotein (HDL; P = 0.002) were independent factors associated with steatosis. The prevalence of CRLF was 28.2%. Higher BMI ( P = 0.001), aspartate aminotransferase (AST; P < 0.0001), gamma-glutamyl transpeptidase (GGT; P < 0.0001), and concomitant hypertension ( P = 0.03) were independent factors associated with CRLF. Elevated ALT and AST (≥40 units/L) levels were present in 70.6 and 51.6% individuals with CRLF, respectively. Thirty-one (7.2%) individuals had LSM > 13.0 kPa. Among them, 25 individuals underwent dynamic MRI of liver, which revealed features consistent with cirrhosis in 18 patients., Conclusion: CRLF, an established risk factor for cirrhosis and overall mortality, affects at least one out of four (25%) Indians with T2D. These results support screening of all patients with T2D and NAFLD for liver fibrosis., (© 2021 The Authors. JGH Open published by Journal of Gastroenterology and Hepatology Foundation and John Wiley & Sons Australia, Ltd.)
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- 2021
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159. A nurse practitioner model of care in the era of direct acting antiviral therapy for hepatitis C virus infection.
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Nario S, Reynauld B, Blacklaws H, Boden S, Sud R, Hawken G, Singh S, Herba K, Panetta J, and Pang J
- Abstract
Background and Aim: Direct-acting antiviral (DAA) therapy for hepatitis C virus (HCV) infection has resulted in high rates of successful disease cure; however, not enough healthcare providers are available to deliver treatment to the population living with chronic HCV. To demonstrate that a nurse practitioner (NP) model of care is non-inferior to specialist gastroenterologist (SG) management of HCV infection, as measured by sustained viral response at 12 weeks (SVR
12 ) after initiation of DAA therapy., Design: Retrospective cohort database study., Setting: Single-center outpatient study, Central Coast Local Health District (CCLHD)., Participants: All patients with chronic HCV treated in the CCLHD Liver Clinic in the period 3rd March 2016 to 31st May 2019 were retrospectively analyzed. In this time period, a total of 1638 patients with chronic HCV had completed treatment. Seven hundred and thirty-four patients were excluded (733 pre-PBS listing for DAAs and 1 not treated with DAA). Nine hundred and four patients were eligible for the study, of which 541 were managed by an SG, and 363 managed by an NP., Main Outcome Measures: Data were collected on patient demographics, genotype, fibrosis score, and presence of cirrhosis. Primary end point was number of patients achieving SVR12 ., Results: Of the 904 patients treated with DAA, 764 (84.5%) achieved SVR12 . There was no statistical difference ( P > 0.05) in achieving SVR12 between patients treated by an SP ( n = 481, 88.9%) and those treated by an NP ( n = 281, 77.4%)., Conclusion: An NP model of care is non-inferior to SG management of HCV infection, as evidenced by equivocal success in achieving SVR12 between the two treatment groups. Therefore, an NP model of care is a viable option in the era of DAA therapy for HCV infection. Ongoing investment into the delivery of NP care could increase treatment uptake of HCV, with the aim of decreasing overall burden of disease., (© 2021 The Authors. JGH Open published by Journal of Gastroenterology and Hepatology Foundation and John Wiley & Sons Australia, Ltd.)- Published
- 2021
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160. Exome hits demystified: The next frontier.
- Author
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Ithal D, Sukumaran SK, Bhattacharjee D, Vemula A, Nadella R, Mahadevan J, Sud R, Viswanath B, Purushottam M, and Jain S
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- Genetic Predisposition to Disease, Humans, Pedigree, Phosphatidylinositol 3-Kinases, Exome Sequencing, Bipolar Disorder genetics, Exome
- Abstract
Severe mental illnesses such as schizophrenia and bipolar disorder have complex inheritance patterns, involving both common and rare variants. Whole exome sequencing is a promising approach to find out the rare genetic variants. We had previously reported several rare variants in multiplex families with severe mental illnesses. The current article tries to summarise the biological processes and pattern of expression of genes harbouring the aforementioned variants, linking them to known clinical manifestations through a methodical narrative review. Of the 28 genes considered for this review from 7 families with multiple affected individuals, 6 genes are implicated in various neuropsychiatric manifestations including some variations in the brain morphology assessed by magnetic resonance imaging. Another 15 genes, though associated with neuropsychiatric manifestations, did not have established brain morphological changes whereas the remaining 7 genes did not have any previously recorded neuropsychiatric manifestations at all. Wnt/b-catenin signaling pathway was associated with 6 of these genes and PI3K/AKT, calcium signaling, ERK, RhoA and notch signaling pathways had at least 2 gene associations. We present a comprehensive review of biological and clinical knowledge about the genes previously reported in multiplex families with severe mental illness. A 'disease in dish approach' can be helpful to further explore the fundamental mechanisms., (Copyright © 2021 Elsevier B.V. All rights reserved.)
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- 2021
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161. Cell cycle abnormality is a cellular phenotype in OCD.
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Manjappa P, Balachander S, Naaz S, Nadella RK, Shukla T, Paul P, Purushottam M, Janardhan Reddy YC, Jain S, Viswanath B, and Sud R
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- Cell Division, Fluoxetine pharmacology, Humans, Phenotype, Selective Serotonin Reuptake Inhibitors pharmacology, Treatment Outcome, Obsessive-Compulsive Disorder drug therapy
- Abstract
Abnormal indices of cell cycle regulation have been reported in multiple psychiatric disorders. Though reports specific to Obsessive Compulsive Disorder (OCD) are scant, numerous studies have highlighted partly common underlying biology in psychiatric disorders, cell cycle regulation being one such process. In this study, we therefore aimed to explore cell cycle in OCD. To the best of our knowledge, this is the first study to investigate these effects in OCD. We also evaluated the effect of in vitro fluoxetine, commonly used serotonin reuptake inhibitor (SRI) in OCD patients, on cell cycle regulation. The effects of both disease (OCD) and treatment (SRI) were assessed using lymphoblastoid cell lines (LCLs), derived from OCD patients and healthy controls, as a model system. LCLs were treated with 10μM of fluoxetine for 24 h, and the percentage of cells in each phase of the cell cycle was determined by flow cytometry. We observed a lower proportion of cells in the G2/M phase in OCD cases than controls. The findings suggest that cell cycle dysregulation could be peripheral cellular phenotype for OCD. Among cases, all of whom had been systematically characterized for SRI treatment response, LCLs from non-responders to SRI treatment had a lower proportion of cells in G2/M phase than responders., (Copyright © 2021. Published by Elsevier B.V.)
- Published
- 2021
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162. Slit lamp examination during COVID-19: Where should the protective barrier be?
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Mannan R, Pruthi A, Sud R, and Khanduja S
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- Comorbidity, Eye Diseases epidemiology, Humans, India, Pandemics, COVID-19 epidemiology, Disease Transmission, Infectious prevention & control, Eye Diseases diagnosis, Personal Protective Equipment, SARS-CoV-2, Slit Lamp Microscopy standards
- Abstract
Purpose: The aim of this study was to describe a poly-vinyl chloride air condition (PVC AC) curtain shield placed at the intervening space between the chin rest and the illuminating and optical arm of the slit lamp microscope (distal barrier) instead of the present position at the oculars (proximal barrier) to guard against severe acute respiratory syndrome Coronavirus 2. This experimental study was done to validate and compare the protection offered by the conventional breath shields and the one described by us in a simulated environment., Methods: In this experimental study, 12 puffs of fine mist were sprayed over a period of 1 minute using "magenta-colored dye" and "cyan-colored dye" for analyzing proximal barrier and distal barrier respectively. To access the amount of contamination of the slit lamp, caused by sprayed "magenta" and "cyan" colored dye, we covered the entire slit lamp with appropriately sized white-colored cotton sheet. The stained sheets were individually photographed and then the images were first cropped, then color threshold adjusted and then converted to binary and finally fraction of surface area stained was calculated using the ImageJ software. (P
n Surface Areamagenta fraction (%) during analysis of "proximal barrier" and Pn Surface Areacyan fraction (%) during the analysis of "distal barrier", where Pn refers to various parts of slit lamp., Results: The entire surface area of the cloth covering the slit lamp was 9912.45 cm2 . The surface area of the cloth which was stained when using the "proximal barrier" was 567.50 cm2 whereas when using the "distal barrier" was 222.93 cm2 . When using proximal barrier, 97.71% of the staining was present on the slit lamp base, viewing arm, illumination arm and the pivot of the slit lamp. While using the distal breath shield no parts of the viewing arm, illumination arm, the pivot or the mechanical base with joystick were stained., Conclusion: The novel PVC AC curtain shield provides better barrier against the simulated contaminated stream of patient's breath directed towards the working parts of the slit lamp as compared to conventional slit lamp oculars mounted breath shields., Competing Interests: None- Published
- 2021
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163. Annual Renal Ultrasound May Prevent Acute Presentation With Acetazolamide-Associated Urolithiasis.
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Suetterlin KJ, Vivekanandam V, James N, Sud R, Holmes S, Fialho D, Hanna MG, and Matthews EL
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- 2021
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164. Andersen-Tawil Syndrome Presenting with Complete Heart Block.
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Suetterlin K, Männikkö R, Flossmann E, Sud R, Fialho D, Vivekanandam V, James N, Gossios TD, Hanna MG, Savvatis K, and Matthews E
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- Andersen Syndrome diagnosis, Andersen Syndrome physiopathology, Atrioventricular Block diagnosis, Atrioventricular Block physiopathology, Delayed Diagnosis, Humans, Andersen Syndrome complications, Atrioventricular Block etiology
- Abstract
Andersen-Tawil syndrome (ATS) is a rare autosomal dominant neuromuscular disorder due to mutations in the KCNJ2 gene. The classical phenotype of ATS consists of a triad of periodic paralysis, cardiac conduction abnormalities and dysmorphic features. Episodes of either muscle weakness or cardiac arrhythmia may predominate however, and dysmorphic features may be subtle, masking the true breadth of the clinical presentation, and posing a diagnostic challenge. The severity of cardiac involvement varies but includes reports of life-threatening events or sudden cardiac death, usually attributed to ventricular tachyarrhythmias. We report the first case of advanced atrioventricular (AV) block in ATS and highlight clinical factors that may delay diagnosis.
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- 2021
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165. Pancreatic Injury in COVID-19 Patients.
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Bansal P, Margekar SL, Suman V, Sud R, Meena S, Sharma AK, Islam SY, Gurtoo A, Agrawal A, Pangtey GS, and Prakash A
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- Adult, Aged, Betacoronavirus, COVID-19, Female, Humans, Male, Middle Aged, Retrospective Studies, SARS-CoV-2, Coronavirus Infections, Pancreas, Pancreatic Diseases virology, Pandemics, Pneumonia, Viral
- Abstract
Background and Aim: Coronavirus disease 2019 (COVID 2019) outbreak caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) may cause multisystem dysfunction. We studied pancreatic injury (serum amylase and serum lipase levels) in COVID-19 patients., Methods: A retrospective study involving 42 COVID-19 patients (diagnosed by real-time PCR) admitted to a tertiary care hospital was conducted. Serum amylase and serum lipase levels were analysed in relation to severity of COVID-19 and mortality., Results: Mean age of patients was 50 ± 16 years, with male to female ratio of 3.7:1. Serum amylase was elevated in 14 patients (33%). Serum lipase was elevated in 7 out of 29 patients (24.1%). Mortality was seen in 18 patients (42.8%). Serum amylase or lipase did not correlate with severity of COVID-19 or its mortality. However, both patients who had high lipase (>3times) died., Conclusion: The prevalence of hyperamylasemia in patients of COVID-19 was 33%, while that of elevated lipase was 24.1%. Pancreatic injury failed to show any statistically significant relation to severity or outcome of COVID-19., (© Journal of the Association of Physicians of India 2011.)
- Published
- 2020
166. COVID-19 and Tuberculosis: A Meeting of Two Pandemics!
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Gupta U, Prakash A, Sachdeva S, Pangtey GS, Khosla A, Aggarwal R, Sud R, and Margekar SL
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- Adult, Betacoronavirus, COVID-19, Humans, SARS-CoV-2, Coronavirus, Coronavirus Infections, Pandemics, Pneumonia, Viral, Tuberculosis epidemiology
- Abstract
Coronavirus disease 2019 (COVID-19), causes serious respiratory illness manifesting as pneumonia, adult respiratory distress syndrome and respiratory failure. Amidst the rising number of cases and deaths, it is imperative to not forget Tuberculosis (TB) which is another pandemic existing since centuries. There could be dire consequences for tuberculosis patients globally especially in low and middle income countries with a high burden of disease and overwhelmed health care systems. Tuberculosis is still the leading infectious killer worldwide, and therefore, it is crucial to reflect on the interaction between the two diseases. Evidence suggests that both COVID-19 and tuberculosis have a synergistic relationship, boosting detrimental effect of each other, disrupting existing health care models, and also worsening the clinical outcomes in terms of morbidity and mortality. This review aims to draw attention towards this pertinent clinical issue, and tries to unravel the intricate relationship between COVID-19 and tuberculosis, as also the role of BCG vaccination to combat the COVID-19 pandemic., (© Journal of the Association of Physicians of India 2011.)
- Published
- 2020
167. Undergraduate ophthalmology teaching in COVID-19 times: Students' perspective and feedback.
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Sud R, Sharma P, Budhwar V, and Khanduja S
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- Betacoronavirus, COVID-19, Humans, SARS-CoV-2, Coronavirus Infections, Internship and Residency, Ophthalmology education, Pandemics, Pneumonia, Viral, Students, Medical
- Abstract
Competing Interests: None
- Published
- 2020
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168. Using single-operator cholangioscopy for endoscopic evaluation of indeterminate biliary strictures: results from a large multinational registry.
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Almadi MA, Itoi T, Moon JH, Goenka MK, Seo DW, Rerknimitr R, Lau JY, Maydeo AP, Lee JK, Nguyen NQ, Niaz SK, Sud R, Ang TL, Aljebreen A, Devereaux BM, Kochhar R, Reichenberger J, Yasuda I, Kaffes AJ, Kitano M, Peetermans J, Goswamy PG, Rousseau MJ, Reddy DN, Lakhtakia S, Lee YN, Rai VK, Kamada K, Tanaka R, Tonozuka R, Tsuchida A, Song TJ, and Ramchandani MK
- Subjects
- Asia, Constriction, Pathologic etiology, Humans, Registries, Cholestasis etiology, Endoscopy, Digestive System
- Abstract
Background: Peroral cholangioscopy (POCS) of indeterminate biliary strictures aims to achieve a diagnosis through visual examination and/or by obtaining targeted biopsies under direct visualization. In this large, prospective, multinational, real-life experience of POCS-guided evaluation of indeterminate biliary strictures, we evaluated the performance of POCS in this difficult-to-manage patient population., Methods: This prospective registry enrolled patients, with indeterminate biliary strictures across 20 centers in Asia, the Middle East, and Africa. The primary end points were the ability to visualize the lesion, obtain histological sampling when intended, and an assessment of the diagnostic accuracy of POCS for malignant strictures. Patients were followed for 6 months after POCS or until a definitive malignant diagnosis was made, whichever occurred first., Results: 289 patients underwent 290 POCS procedures with intent to biopsy in 182 cases. The stricture/filling defect was successfully visualized in 286/290 (98.6 %), providing a visual diagnostic impression in 253/290 (87.2 %) and obtaining adequate biopsies in 169/182 (92.9 %). Procedure-related adverse events occurred in 5/289 patients (1.7 %). POCS influenced patient management principally by elucidating filling defects or the causes of bile duct stricture or dilation. The visual impression of malignancy showed 86.7 % sensitivity, 71.2 % specificity, 65.8 % positive and 89.4 % negative predictive value, and 77.2 % overall accuracy compared with final diagnosis. Histological POCS-guided samples showed 75.3 % sensitivity, 100 % specificity, 100 % positive and 77.1 % negative predictive value, and 86.5 % overall accuracy., Conclusion: In this large, real-life, prospective series, POCS was demonstrated to be an effective and safe intervention guiding the management of patients with indeterminate biliary strictures., Competing Interests: Dr. Benedict Devereaux is a member of the speakers’ bureau of Boston Scientific Corporation. Joyce Peetermans, Pooja G. Goswamy, and Matthew Rousseau are employees of Boston Scientific Corporation, the sponsor of this registry. Dr. Takao Itoi is a consultant to Boston Scientific Corporation, Olympus Corporation, Fujifilm Corporation, and Gadelius Medical. The remaining authors declare that they have no conflict of interest., (© Georg Thieme Verlag KG Stuttgart · New York.)
- Published
- 2020
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169. A clinico-epidemiological, pathological, and molecular study of lung cancer in Northwestern India.
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Darling HS, Viswanath S, Singh R, Ranjan S, Pathi N, Rathore A, Pathak A, and Sud R
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- Adult, Aged, Aged, 80 and over, Carcinoma, Non-Small-Cell Lung epidemiology, Carcinoma, Non-Small-Cell Lung genetics, Carcinoma, Non-Small-Cell Lung pathology, Carcinoma, Small Cell epidemiology, Carcinoma, Small Cell genetics, Carcinoma, Small Cell pathology, Carcinoma, Squamous Cell epidemiology, Carcinoma, Squamous Cell etiology, Carcinoma, Squamous Cell pathology, ErbB Receptors genetics, Female, Humans, Incidence, India epidemiology, Lung Neoplasms genetics, Male, Middle Aged, Risk Factors, Smokers statistics & numerical data, Young Adult, Anaplastic Lymphoma Kinase genetics, Lung Neoplasms epidemiology, Lung Neoplasms pathology
- Abstract
Introduction: Lung cancer is the most common malignant disease and is the topmost cause of cancer deaths in the world across all age groups and in both sexes. It is the most common cause of cancer deaths in developed countries and is also rising at an alarming rate in the developing countries., Objective: The present study was undertaken to explore the clinicopathological and molecular profile of bronchogenic carcinoma in northwestern population of India., Materials and Methods: A total of 136 consecutive patients with histologically proven bronchogenic carcinoma, registered between May 2014 and April 2016 at a tertiary care hospital in New Delhi, India, were analyzed., Results: Out of a total of 136 diagnosed cases, 6% were in the third to fourth decade of life, 49% in the fifth to sixth decade, and 45% in the seventh decade and above. Seventy-one percent of patients were male. Smoking was the major risk factor in 65.40% of patients. About 33% of female patients were smokers with a significant overlap in the use of smoking objects. Twenty-one percent of patients had been initially empirically treated with antitubercular therapy. Most common symptoms at presentation were cough, dyspnea, weight loss, and chest pain. Pleural effusion, paraneoplastic phenomenon, clubbing, peripheral lymphadenopathy, and Pancoast syndrome were the major signs at presentation. Twenty-one percent of nonsmokers and 40% of smoker patients presented with ECOG Performance Status 3 or 4. Ninety-three percent of patients presented in stage III or IV. Metastases to skeleton, brain, liver, pleura, adrenals, lung, and distant lymph nodes were present in 30.8%, 16.9%, 15.4%, 15.4%, 14.7%, 13.2%, and 11.8%, respectively. Fiberoptic bronchoscopy was found to be the most efficient diagnostic procedure as compared to transthoracic and thoracoscopic methods. Histologically, squamous cell carcinoma, adenocarcinoma, and small cell carcinoma and its variants were seen in 35.30%, 44.9%, and 15.40% cases, respectively. Nearly 4.4% of patients were diagnosed as poorly differentiated carcinoma. Driver mutations (epidermal growth factor receptor or anaplastic lymphoma kinase) were detected in 48% (25 of 52 tested) of adenocarcinomas and 55.55% (5 of 9 tested) of young, nonsmoker, female squamous cell carcinoma patients., Conclusion: This study highlights that the adenocarcinoma incidence is surpassing squamous cell carcinoma in Indian lung cancer patients also, as observed in Western population. Mean age at diagnosis is about one decade earlier than in the Western population. Driver mutations are more common in India than in the West as also reported in other Asian studies., Competing Interests: None
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- 2020
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170. Sodium channel myotonia may be associated with high-risk brief resolved unexplained events.
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Cea G, Andreu D, Fletcher E, Ramdas S, Sud R, Hanna MG, and Matthews E
- Abstract
Brief resolved unexplained events (BRUEs) have numerous and varied causes posing a challenge to investigation and management. A subset of infants with the neuromuscular disorder sodium channel myotonia, due to mutations in the SCN4A gene, experience apnoeic events due to laryngospasm (myotonia) of the upper airway muscles that may present as a BRUE. We sought to ascertain the frequency, severity and outcome of infants carrying the G1306E SCN4A mutation commonly associated with this presentation. We report 14 new cases of individuals with the G1306E mutation from three unrelated families and perform a literature review of all published cases. Infants with the G1306E mutation almost universally experience laryngospasm and apnoeic events. The severity varies significantly, spans both low and high-risk BRUE categories or can be more severe than criteria for a BRUE would allow. At least a third of cases require intensive care unit (ICU) care. Seizure disorder is a common erroneous diagnosis. Apnoeas are effectively reduced or abolished by appropriate treatment with anti-myotonic agents. Probands with the G1306E mutation who are family planning need to be counselled for the likelihood of post-natal complications. There is readily available and extremely effective treatment for the episodic laryngospasm and apnoea caused by this mutation. Proactively seeking clinical evidence of myotonia or muscle hypertrophy with consideration of CK,EMG and genetic testing in high risk BRUEs or more complex apnoeic events may reduce avoidable and prolonged ICU admissions, patient morbidity and potentially mortality., Competing Interests: No competing interests were disclosed., (Copyright: © 2020 Cea G et al.)
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- 2020
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171. Lithium response in bipolar disorder correlates with improved cell viability of patient derived cell lines.
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Paul P, Iyer S, Nadella RK, Nayak R, Chellappa AS, Ambardar S, Sud R, Sukumaran SK, Purushottam M, Jain S, and Viswanath B
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- Adult, Antimanic Agents therapeutic use, Cell Cycle, Cell Line drug effects, Cell Proliferation, Drug Evaluation, Preclinical, Female, Gene Expression Profiling, Glycogen Synthase Kinase 3 beta metabolism, Humans, Induced Pluripotent Stem Cells cytology, Male, Membrane Potential, Mitochondrial, Middle Aged, Phenotype, Proto-Oncogene Proteins c-bcl-2 metabolism, RNA-Seq, Retrospective Studies, Bipolar Disorder drug therapy, Cell Survival drug effects, Lithium therapeutic use
- Abstract
Lithium is an effective, well-established treatment for bipolar disorder (BD). However, the mechanisms of its action, and reasons for variations in clinical response, are unclear. We used neural precursor cells (NPCs) and lymphoblastoid cell lines (LCLs), from BD patients characterized for clinical response to lithium (using the "Alda scale" and "NIMH Retrospective Life chart method"), to interrogate cellular phenotypes related to both disease and clinical lithium response. NPCs from two biologically related BD patients who differed in their clinical response to lithium were compared with healthy controls. RNA-Seq and analysis, mitochondrial membrane potential (MMP), cell viability, and cell proliferation parameters were assessed, with and without in vitro lithium. These parameters were also examined in LCLs from 25 BD patients (16 lithium responders and 9 non-responders), and 12 controls. MMP was lower in both NPCs and LCLs from BD; but it was reversed with in vitro lithium only in LCLs, and this was unrelated to clinical lithium response. The higher cell proliferation observed in BD was unaffected by in vitro lithium. Cell death was greater in BD. However, LCLs from clinical lithium responders could be rescued by addition of in vitro lithium. In vitro lithium also enhanced BCL2 and GSK3B expression in these cells. Our findings indicate cellular phenotypes related to the disease (MMP, cell proliferation) in both NPCs and LCLs; and those related to clinical lithium response (cell viability, BCL2/GSK3B expression) in LCLs.
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- 2020
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172. Modified intraocular lens injector assisted rescue technique for failed viscoexpression in a case of intracameral cysticercosis.
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Sud R, Sharma P, Takkar B, and Khanduja S
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- Humans, Cysticercosis diagnosis, Cysticercosis surgery, Lenses, Intraocular
- Abstract
Intracameral cysticercosis is a rare disease, and surgical management with viscoexpression is the preferred technique. We discuss a novel technique for removal of anterior chamber parasitic cysts and present it as an alternative to the conventional viscoexpression. Our technique uses a custom-made assembly combining an intraocular lens (IOL) cartridge with an aspiration cannula. We compare its utility with the preexisting surgical methods., Competing Interests: None
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- 2020
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173. Letter to the editor: Video recording in ophthalmic surgery.
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Sampangi R, Hada M, Sud R, and Khanduja S
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- Humans, Video Recording, Ophthalmology
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- 2020
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174. Myotonia in a patient with a mutation in an S4 arginine residue associated with hypokalaemic periodic paralysis and a concomitant synonymous CLCN1 mutation.
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Thor MG, Vivekanandam V, Sampedro-Castañeda M, Tan SV, Suetterlin K, Sud R, Durran S, Schorge S, Kullmann DM, Hanna MG, Matthews E, and Männikkö R
- Subjects
- Adolescent, Arginine, HEK293 Cells, High-Throughput Nucleotide Sequencing, Humans, Male, Mutation genetics, NAV1.4 Voltage-Gated Sodium Channel genetics, Chloride Channels genetics, Hypokalemic Periodic Paralysis genetics, Myotonia genetics
- Abstract
The sarcolemmal voltage gated sodium channel Na
V 1.4 conducts the key depolarizing current that drives the upstroke of the skeletal muscle action potential. It contains four voltage-sensing domains (VSDs) that regulate the opening of the pore domain and ensuing permeation of sodium ions. Mutations that lead to increased NaV 1.4 currents are found in patients with myotonia or hyperkalaemic periodic paralysis (HyperPP). Myotonia is also caused by mutations in the CLCN1gene that result in loss-of-function of the skeletal muscle chloride channel ClC-1. Mutations affecting arginine residues in the fourth transmembrane helix (S4) of the NaV 1.4 VSDs can result in a leak current through the VSD and hypokalemic periodic paralysis (HypoPP), but these have hitherto not been associated with myotonia. We report a patient with an Nav1.4 S4 arginine mutation, R222Q, presenting with severe myotonia without fulminant paralytic episodes. Other mutations affecting the same residue, R222W and R222G, have been found in patients with HypoPP. We show that R222Q channels have enhanced activation, consistent with myotonia, but also conduct a leak current. The patient carries a concomitant synonymous CLCN1 variant that likely worsens the myotonia and potentially contributes to the amelioration of muscle paralysis. Our data show phenotypic variability for different mutations affecting the same S4 arginine that have implications for clinical therapy.- Published
- 2019
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175. Indian consensus on gastroesophageal reflux disease in adults: A position statement of the Indian Society of Gastroenterology.
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Bhatia SJ, Makharia GK, Abraham P, Bhat N, Kumar A, Reddy DN, Ghoshal UC, Ahuja V, Rao GV, Devadas K, Dutta AK, Jain A, Kedia S, Dama R, Kalapala R, Alvares JF, Dadhich S, Dixit VK, Goenka MK, Goswami BD, Issar SK, Leelakrishnan V, Mallath MK, Mathew P, Mathew P, Nandwani S, Pai CG, Peter L, Prasad AVS, Singh D, Sodhi JS, Sud R, Venkataraman J, Midha V, Bapaye A, Dutta U, Jain AK, Kochhar R, Puri AS, Singh SP, Shimpi L, Sood A, and Wadhwa RT
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- Adult, Antacids therapeutic use, Consensus, Diet adverse effects, Esophagitis epidemiology, Esophagitis etiology, Female, Gastroesophageal Reflux etiology, Helicobacter Infections complications, Helicobacter pylori, Histamine H2 Antagonists therapeutic use, Humans, India epidemiology, Male, Prevalence, Proton Pump Inhibitors therapeutic use, Societies, Medical, Gastroenterology standards, Gastroesophageal Reflux epidemiology, Gastroesophageal Reflux therapy, Practice Guidelines as Topic
- Abstract
The Indian Society of Gastroenterology developed this evidence-based practice guideline for management of gastroesophageal reflux disease (GERD) in adults. A modified Delphi process was used to develop this consensus containing 58 statements, which were generated by electronic voting iteration as well as face-to-face meeting and review of the supporting literature primarily from India. These statements include 10 on epidemiology, 8 on clinical presentation, 10 on investigations, 23 on treatment (including medical, endoscopic, and surgical modalities), and 7 on complications of GERD. When the proportion of those who voted either to accept completely or with minor reservation was 80% or higher, the statement was regarded as accepted. The prevalence of GERD in India ranges from 7.6% to 30%, being < 10% in most population studies, and higher in cohort studies. The dietary factors associated with GERD include use of spices and non-vegetarian food. Helicobacter pylori is thought to have a negative relation with GERD; H. pylori negative patients have higher grade of symptoms of GERD and esophagitis. Less than 10% of GERD patients in India have erosive esophagitis. In patients with occasional or mild symptoms, antacids and histamine H
2 receptor blockers (H2RAs) may be used, and proton pump inhibitors (PPI) should be used in patients with frequent or severe symptoms. Prokinetics have limited proven role in management of GERD.- Published
- 2019
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176. Correction: Cholangioscopy-guided lithotripsy for difficult bile duct stone clearance in a single session of ERCP: results from a large multinational registry demonstrate high success rates.
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Maydeo AP, Rerknimitr R, Lau JY, Aljebreen A, Niaz SK, Itoi T, Ang TL, Reichenberger J, Seo DW, Ramchandani MK, Devereaux BM, Lee JK, Goenka MK, Sud R, Nguyen NQ, Kochhar R, Peetermans J, Goswamy PG, Rousseau M, Bhandari SP, Angsuwatcharakon P, Tang RSY, Teoh AYB, Almadi M, Lee YN, and Moon JH
- Abstract
Competing Interests: Disclosure The authors report no conflicts of interest in this work.
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- 2019
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177. Cholangioscopy-guided lithotripsy for difficult bile duct stone clearance in a single session of ERCP: results from a large multinational registry demonstrate high success rates.
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Maydeo AP, Rerknimitr R, Lau JY, Aljebreen A, Niaz SK, Itoi T, Ang TL, Reichenberger J, Seo DW, Ramchandani MK, Devereaux BM, Lee JK, Goenka MK, Sud R, Nguyen NQ, Kochhar R, Peetermans J, Goswamy PG, Rousseau M, Bhandari SP, Angsuwatcharakon P, Tang RSY, Teoh AYB, Almadi M, Lee YN, and Moon JH
- Subjects
- Aged, Female, Gallstones diagnosis, Humans, Male, Middle Aged, Prospective Studies, Registries, Treatment Outcome, Cholangiopancreatography, Endoscopic Retrograde, Gallstones surgery, Lithotripsy methods, Natural Orifice Endoscopic Surgery
- Abstract
Background: Peroral cholangioscopy (POCS) can be useful for difficult bile duct stone clearance. Large prospective multinational data on POCS-guided lithotripsy for clearing difficult bile duct stones in a single session of endoscopic retrograde cholangiopancreatography (ERCP) are missing., Methods: Patients with difficult bile duct stones (defined as one or more of: largest stone diameter ≥ 15 mm, failed prior attempt at stone clearance, impacted, multiple, hepatic duct location, or located above a stricture) were enrolled at 17 centers in 10 countries. The principal endpoint was stone clearance in a single ERCP procedure using POCS. RESULTS : 156 patients underwent 174 sessions of POCS-guided electrohydraulic or laser lithotripsy. Stone clearance had failed in a previous ERCP using traditional techniques in 124/156 patients (80 %), while 32 /156 patients (21 %) were referred directly to POCS-guided therapy based on preprocedural assessment of the difficulty of stone clearance. In 101/156 patients (65 %), there were impacted stones. POCS-guided stone clearance was achieved in a single POCS procedure in 125 /156 patients (80 %, 95 % confidence interval [CI] 73 % - 86 %), and was significantly more likely for stones ≤ 30 mm compared with > 30 mm (odds ratio 7.9, 95 %CI 2.4 - 26.2; P = 0.002). Serious adverse events occurred in 3/156 patients (1.9 %, 95 %CI 0.4 % - 5.5 %), and included pancreatitis, perforation due to laser lithotripsy, and cholangitis (n = 1 each), all resolved within 1 week., Conclusion: POCS-guided lithotripsy is highly effective for clearance of difficult bile duct stones in a single procedure and successfully salvages most prior treatment failures. It may also be considered first-line therapy for patients with difficult choledocholithiasis to avoid serial procedures., Competing Interests: Dr. Anthony Teoh is a paid consultant for Boston Scientific Corporation, Taewoong Medical Co., Ltd., Cook Medical, and Micro-Tech Europe. Dr. Benedict Devereaux is a member of the speakers’ bureau of Boston Scientific Corporation. Joyce Peetermans, PhD, Pooja G. Goswamy, and Matthew Rousseau are employees of Boston Scientific Corporation, the sponsor of this registry. Dr. Takao Itoi is a consultant to Boston Scientific Corporation, Olympus Corporation, Fujifilm Corporation, and Gadelius Medical. All other authors disclose no financial or other relationships related to the work described in this manuscript., (© Georg Thieme Verlag KG Stuttgart · New York.)
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- 2019
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178. Periorbital necrotizing fasciitis due to Klebsiella pneumoniae in an immunocompetent patient.
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Sud R, Sharma P, Garg G, Takkar B, and Khanduja S
- Subjects
- Amikacin therapeutic use, Anti-Bacterial Agents therapeutic use, Combined Modality Therapy, Debridement, Eye Infections, Bacterial diagnosis, Eye Infections, Bacterial drug therapy, Fasciitis, Necrotizing diagnosis, Fasciitis, Necrotizing drug therapy, Female, Humans, Immunocompetence, Klebsiella Infections diagnosis, Klebsiella Infections drug therapy, Middle Aged, Orbital Diseases diagnosis, Orbital Diseases drug therapy, Eye Infections, Bacterial microbiology, Fasciitis, Necrotizing microbiology, Klebsiella Infections microbiology, Klebsiella pneumoniae isolation & purification, Orbital Diseases microbiology
- Abstract
Competing Interests: There are no conflicts of interest.
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- 2019
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179. Sweet's Syndrome in a Case of Ulcerative Colitis-Case Report and Review of Literature.
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Nasa M, Sharma Z, Lipi L, and Sud R
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- Biopsy, Female, Humans, Skin, Skin Diseases, Colitis, Ulcerative diagnosis, Sweet Syndrome diagnosis
- Abstract
Abstract: Sweet syndrome,also known as acute febrile neutrophilic dermatosis , is one of the rare cutaneous association of ulcerative colitis.Only few cases of Sweet syndrome associated with ulcerative colitis have been reported in literature. We herein describe a case of young female with acute exacerbation of ulcerative colitis associated with erythematous , papular skin lesions which on biopsy were consistent with Sweet syndrome. Treatment with intravenous steroids resulted in improvement of ulcerative colitis and disappearance of cutaneous lesions. Cutaneous lesions of Sweet syndrome in ulcerative colitis parallel the bowel disease activity in majority of the cases but sometimes may precede the intestinal symptoms and rarely may appear after procto-colectomy for acute severe ulcerative colitis.Introduction., (© Journal of the Association of Physicians of India 2011.)
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- 2019
180. Common variable immunodeficiency syndrome with chronic diarrhoea.
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Nasa M, Mishra SR, Lipi L, and Sud R
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- Adult, Antiviral Agents therapeutic use, Common Variable Immunodeficiency drug therapy, Common Variable Immunodeficiency physiopathology, Cytomegalovirus Infections physiopathology, Duodenum virology, Endoscopy, Digestive System, Ganciclovir therapeutic use, Humans, Hyperplasia drug therapy, Hyperplasia physiopathology, Immunoglobulins, Intravenous therapeutic use, Intestine, Small virology, Lymphoproliferative Disorders drug therapy, Lymphoproliferative Disorders physiopathology, Male, Middle Aged, Treatment Outcome, Common Variable Immunodeficiency virology, Cytomegalovirus Infections complications, Diarrhea virology, Duodenum pathology, Hyperplasia virology, Intestine, Small pathology, Lymphoproliferative Disorders virology
- Abstract
Common variable immunodeficiency syndrome (CVID) is a heterogeneous disorder characterised by diminished levels of IgG, IgA and/or IgM, and recurrent bacterial infections. Sinopulmonary infections are most commonly reported followed by gastrointestinal (GI) infections. GI tract represents the largest immune organ with abundance of lymphoid cells, its involvement can manifest variably ranging from asymptomatic involvement to florid symptoms and signs. Diffuse nodular lymphoid hyperplasia (DNLH) of the GI tract is characterised by numerous small polypoid nodules of variable size in the small intestine, large intestine or both. It is commonly seen in association to immunodeficiency states such as CVID, IgA deficiency and chronic infections due to Giardia lamblia and Helicobacter pylori and cryptosporidiosis. Repetitive antigenic stimulation leads to lymphoid hyperplasia. We herein describe a case of DNLH of the intestine and another case of duodenal cytomegalovirus (CMV) infection associated with CVID., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2019. No commercial re-use. See rights and permissions. Published by BMJ.)
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- 2019
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181. Acetazolamide can improve symptoms and signs in ion channel-related congenital myopathy.
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Matthews E, Hartley L, Sud R, Hanna MG, Muntoni F, and Munot P
- Subjects
- Adolescent, Child, Female, Humans, Muscular Diseases genetics, Mutation genetics, Acetazolamide therapeutic use, Anticonvulsants therapeutic use, Calcium Channels, L-Type genetics, Muscular Diseases congenital, Muscular Diseases drug therapy, NAV1.4 Voltage-Gated Sodium Channel genetics
- Abstract
Competing Interests: Competing interests: None declared.
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- 2019
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182. A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms.
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Sampedro Castañeda M, Zanoteli E, Scalco RS, Scaramuzzi V, Marques Caldas V, Conti Reed U, da Silva AMS, O'Callaghan B, Phadke R, Bugiardini E, Sud R, McCall S, Hanna MG, Poulsen H, Männikkö R, and Matthews E
- Subjects
- Animals, Child, Humans, Hypokalemic Periodic Paralysis pathology, Male, Membrane Potentials, Muscle, Skeletal pathology, Mutation, Missense, Potassium physiology, Sodium-Potassium-Exchanging ATPase physiology, Xenopus laevis, Hypokalemic Periodic Paralysis genetics, Hypokalemic Periodic Paralysis physiopathology, Sodium-Potassium-Exchanging ATPase genetics
- Abstract
Hypokalaemic periodic paralysis is a rare genetic neuromuscular disease characterized by episodes of skeletal muscle paralysis associated with low serum potassium. Muscle fibre inexcitability during attacks of paralysis is due to an aberrant depolarizing leak current through mutant voltage sensing domains of either the sarcolemmal voltage-gated calcium or sodium channel. We report a child with hypokalaemic periodic paralysis and CNS involvement, including seizures, but without mutations in the known periodic paralysis genes. We identified a novel heterozygous de novo missense mutation in the ATP1A2 gene encoding the α2 subunit of the Na+/K+-ATPase that is abundantly expressed in skeletal muscle and in brain astrocytes. Pump activity is crucial for Na+ and K+ homeostasis following sustained muscle or neuronal activity and its dysfunction is linked to the CNS disorders hemiplegic migraine and alternating hemiplegia of childhood, but muscle dysfunction has not been reported. Electrophysiological measurements of mutant pump activity in Xenopus oocytes revealed lower turnover rates in physiological extracellular K+ and an anomalous inward leak current in hypokalaemic conditions, predicted to lead to muscle depolarization. Our data provide important evidence supporting a leak current as the major pathomechanism underlying hypokalaemic periodic paralysis and indicate ATP1A2 as a new hypokalaemic periodic paralysis gene.
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- 2018
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183. Endoscopic management of difficult benign biliary and pancreatic strictures using a wire-guided cystotome: experience with 25 cases.
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Puri R, Bhatia S, Bansal RK, and Sud R
- Abstract
Background and Study Aims: Endoscopic management using standard accessories is the preferred modality for treatment of benign biliary strictures. However, with difficult strictures, there is frequently failure of endoscopic therapy. We are reporting our experience regarding use of a standard diathermic dilator (cystotome) to aid in stricture dilatation and stent placement in patients with difficult strictures., Patients and Methods: Data were analyzed from January 2014 to January 2017 at a single tertiary care center in North India. Total 25 patients were included., Results: The mean age was 45 years (varying from 38 - 55 years). Of the 25 patients with difficult strictures, 14 (56 %) were male and 11 (44 %) were female. Further, of these, 19 had biliary and 6 had pancreatic strictures. The average time of diathermic current application was 3.5 seconds (ranging 3 - 5 seconds). Technical and clinical success were achieved in 100 % of cases. None of the patients had any procedure-related (early or delayed) major complications., Conclusion: The cystotome is an extremely safe and useful accessory in benign biliary and pancreatic strictures, whereas conventional methods to negotiate stricture have failed.
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- 2018
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184. Hypokalaemic periodic paralysis and myotonia in a patient with homozygous mutation p.R1451L in Na V 1.4.
- Author
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Luo S, Sampedro Castañeda M, Matthews E, Sud R, Hanna MG, Sun J, Song J, Lu J, Qiao K, Zhao C, and Männikkö R
- Subjects
- Adult, Animals, Electrophysiology, HEK293 Cells, Heterozygote, High-Throughput Nucleotide Sequencing, Homozygote, Humans, Male, Mutation genetics, NAV1.4 Voltage-Gated Sodium Channel genetics, Pedigree, Protein Structure, Secondary, Young Adult, Hypokalemic Periodic Paralysis genetics, Hypokalemic Periodic Paralysis metabolism, Myotonia genetics, Myotonia metabolism, NAV1.4 Voltage-Gated Sodium Channel metabolism
- Abstract
Dominantly inherited channelopathies of the skeletal muscle voltage-gated sodium channel Na
V 1.4 include hypokalaemic and hyperkalaemic periodic paralysis (hypoPP and hyperPP) and myotonia. HyperPP and myotonia are caused by NaV 1.4 channel overactivity and overlap clinically. Instead, hypoPP is caused by gating pore currents through the voltage sensing domains (VSDs) of NaV 1.4 and seldom co-exists clinically with myotonia. Recessive loss-of-function NaV 1.4 mutations have been described in congenital myopathy and myasthenic syndromes. We report two families with the NaV 1.4 mutation p.R1451L, located in VSD-IV. Heterozygous carriers in both families manifest with myotonia and/or hyperPP. In contrast, a homozygous case presents with both hypoPP and myotonia, but unlike carriers of recessive NaV 1.4 mutations does not manifest symptoms of myopathy or myasthenia. Functional analysis revealed reduced current density and enhanced closed state inactivation of the mutant channel, but no evidence for gating pore currents. The rate of recovery from inactivation was hastened, explaining the myotonia in p.R1451L carriers and the absence of myasthenic presentations in the homozygous proband. Our data suggest that recessive loss-of-function NaV 1.4 variants can present with hypoPP without congenital myopathy or myasthenia and that myotonia can present even in carriers of homozygous NaV 1.4 loss-of-function mutations.- Published
- 2018
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185. Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study.
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Männikkö R, Wong L, Tester DJ, Thor MG, Sud R, Kullmann DM, Sweeney MG, Leu C, Sisodiya SM, FitzPatrick DR, Evans MJ, Jeffrey IJM, Tfelt-Hansen J, Cohen MC, Fleming PJ, Jaye A, Simpson MA, Ackerman MJ, Hanna MG, Behr ER, and Matthews E
- Subjects
- Adult, Case-Control Studies, Female, Gene Frequency, Genetic Variation, Humans, Infant, Male, NAV1.4 Voltage-Gated Sodium Channel physiology, Exome Sequencing methods, Muscle, Skeletal physiopathology, Mutation, NAV1.4 Voltage-Gated Sodium Channel genetics, Sudden Infant Death genetics
- Abstract
Background: Sudden infant death syndrome (SIDS) is the leading cause of post-neonatal infant death in high-income countries. Central respiratory system dysfunction seems to contribute to these deaths. Excitation that drives contraction of skeletal respiratory muscles is controlled by the sodium channel NaV1.4, which is encoded by the gene SCN4A. Variants in NaV1.4 that directly alter skeletal muscle excitability can cause myotonia, periodic paralysis, congenital myopathy, and myasthenic syndrome. SCN4A variants have also been found in infants with life-threatening apnoea and laryngospasm. We therefore hypothesised that rare, functionally disruptive SCN4A variants might be over-represented in infants who died from SIDS., Methods: We did a case-control study, including two consecutive cohorts that included 278 SIDS cases of European ancestry and 729 ethnically matched controls without a history of cardiovascular, respiratory, or neurological disease. We compared the frequency of rare variants in SCN4A between groups (minor allele frequency <0·00005 in the Exome Aggregation Consortium). We assessed biophysical characterisation of the variant channels using a heterologous expression system., Findings: Four (1·4%) of the 278 infants in the SIDS cohort had a rare functionally disruptive SCN4A variant compared with none (0%) of 729 ethnically matched controls (p=0·0057)., Interpretation: Rare SCN4A variants that directly alter NaV1.4 function occur in infants who had died from SIDS. These variants are predicted to significantly alter muscle membrane excitability and compromise respiratory and laryngeal function. These findings indicate that dysfunction of muscle sodium channels is a potentially modifiable risk factor in a subset of infant sudden deaths., Funding: UK Medical Research Council, the Wellcome Trust, National Institute for Health Research, the British Heart Foundation, Biotronik, Cardiac Risk in the Young, Higher Education Funding Council for England, Dravet Syndrome UK, the Epilepsy Society, the Eunice Kennedy Shriver National Institute of Child Health & Human Development of the National Institutes of Health, and the Mayo Clinic Windland Smith Rice Comprehensive Sudden Cardiac Death Program., (Copyright © 2018 The Author(s). Published by Elsevier Ltd. This is an Open Access article under the CC BY 4.0 license. Published by Elsevier Ltd.. All rights reserved.)
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- 2018
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186. Uncommon cause of dysphagia: paraneoplastic achalasia.
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Nasa M, Bhansali S, Choudhary NS, and Sud R
- Subjects
- Antibodies, Monoclonal, Murine-Derived, Antineoplastic Combined Chemotherapy Protocols, Cyclophosphamide, Deglutition Disorders etiology, Deglutition Disorders pathology, Doxorubicin, Esophageal Achalasia complications, Esophageal Achalasia physiopathology, Esophageal Neoplasms drug therapy, Esophageal Neoplasms physiopathology, Esophagoscopy, Humans, Lymphoma, Non-Hodgkin drug therapy, Lymphoma, Non-Hodgkin physiopathology, Male, Middle Aged, Paraneoplastic Syndromes drug therapy, Paraneoplastic Syndromes physiopathology, Prednisone, Rituximab, Treatment Outcome, Vincristine, Deglutition Disorders diagnosis, Endoscopy, Digestive System, Esophageal Achalasia diagnosis, Esophageal Neoplasms diagnosis, Lymphoma, Non-Hodgkin diagnosis, Paraneoplastic Syndromes diagnosis
- Abstract
Achalasia secondary to underlying neoplasm is a rare entity. Early recognition of secondary achalasia is important as its treatment involves management of underlying malignancy, while treatment of primary achalasia mainly involves lowering the lower oesophageal sphincter pressure with pneumatic dilatation or Heller's myotomy. We discuss an interesting case of achalasia secondary to non-Hodgkin's lymphoma., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.)
- Published
- 2018
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187. Rectal perfusion parameters normalised to tumour-free rectal wall can predict response to neoadjuvant chemoradiotherapy.
- Author
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Krishan S, Patel A, Sud R, Puri R, Vaid A, Lipi L, and Kataria T
- Subjects
- Humans, Pilot Projects, Predictive Value of Tests, Rectal Neoplasms blood supply, Rectal Neoplasms pathology, Rectum blood supply, Rectum diagnostic imaging, Rectum pathology, Treatment Outcome, Chemoradiotherapy methods, Magnetic Resonance Imaging methods, Neoadjuvant Therapy methods, Rectal Neoplasms therapy
- Abstract
Aims: To evaluate absolute changes in quantitative and semi-quantitative perfusion parameters using a newer approach of comparing these parameters with tumour-free normal rectal wall (i.e., relative/normalised change) in predicting complete pathological response to chemoradiotherapy., Materials and Methods: Perfusion parameters measured before and after treatment of 10 patients with histopathologically proven rectal cancer that showed complete treatment response (Group 1) were compared with 10 patients with residual tumour on histopathology following treatment (Group 2). Quantitative perfusion MRI parameters (Ktrans: volume transfer coefficient reflecting vascular permeability, Kep: flux rate constant, Ve: extracellular volume ratio reflecting vascular permeability, integral of area under the curve (IAUC); Toft model) were quantified by manually delineating a region of interest in the upper, mid and lower third of the tumour (1 cm
2 ), in addition similar parameters were obtained from the normal rectal wall at least 1 cm away from the potential resection margin, absolute as well as relative perfusion values normalised to that of the normal rectal wall were evaluated. The differences in absolute and normalised qualitative parameters were compared within each group using paired t-tests and between each group using analysis of variance (ANOVA)., Results: Wash-in, wash-out, positive enhancement integral (PEI), Ktrans, IAUC in the complete pathological responders when compared to the adjacent normal rectal wall showed ratios approaching 1, suggesting that rectal perfusion is similar to the adjacent normal rectal wall in complete pathological responders. The difference in the normalised values in the responders and non-responders was statistically significant., Conclusion: Perfusion parameters can be used in predicting response to treatment, when normalised to the adjacent normal rectal wall., (Copyright © 2017 The Royal College of Radiologists. Published by Elsevier Ltd. All rights reserved.)- Published
- 2018
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188. Atypical periodic paralysis and myalgia: A novel RYR1 phenotype.
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Matthews E, Neuwirth C, Jaffer F, Scalco RS, Fialho D, Parton M, Raja Rayan D, Suetterlin K, Sud R, Spiegel R, Mein R, Houlden H, Schaefer A, Healy E, Palace J, Quinlivan R, Treves S, Holton JL, Jungbluth H, and Hanna MG
- Subjects
- Electromyography, Evoked Potentials, Motor physiology, Female, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Muscle, Skeletal diagnostic imaging, Muscle, Skeletal physiopathology, Myalgia diagnostic imaging, Myalgia physiopathology, Paralyses, Familial Periodic diagnostic imaging, Paralyses, Familial Periodic physiopathology, Phenotype, Mutation genetics, Myalgia genetics, Paralyses, Familial Periodic genetics, Ryanodine Receptor Calcium Release Channel genetics
- Abstract
Objective: To characterize the phenotype of patients with symptoms of periodic paralysis (PP) and ryanodine receptor ( RYR1 ) gene mutations., Methods: Cases with a possible diagnosis of PP but additional clinicopathologic findings previously associated with RYR1- related disorders were referred for a tertiary neuromuscular clinical assessment in which they underwent detailed clinical evaluation, including neurophysiologic assessment, muscle biopsy, and muscle MRI. Genetic analysis with next-generation sequencing and/or targeted Sanger sequencing was performed., Results: Three cases with episodic muscle paralysis or weakness and additional findings compatible with a RYR1 -related myopathy were identified. The McManis test, used in the diagnosis of PP, was positive in 2 of 3 cases. Genetic analysis of known PP genes was negative. RYR1 analysis confirmed likely pathogenic variants in all 3 cases., Conclusions: RYR1 mutations can cause late-onset atypical PP both with and without associated myopathy. Myalgia and cramps are prominent features. The McManis test may be a useful diagnostic tool to indicate RYR1 -associated PP. We propose that clinicopathologic features suggestive of RYR1 -related disorders should be sought in genetically undefined PP cases and that RYR1 gene testing be considered in those in whom mutations in SCN4A, CACNA1S , and KCNJ2 have already been excluded., (© 2018 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.)
- Published
- 2018
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189. General practitioners require more support to prescribe direct acting antiviral therapy for hepatitis C.
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Sud R, Tiwari N, Forner P, Dowdell L, Freiman J, and Zekry A
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- Antiviral Agents, Hepatitis C, Hepatitis C, Chronic, Humans, General Practitioners, Hepacivirus
- Published
- 2018
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190. Endoscopic pancreatic balloon sphincteroplasty for difficult to treat pancreatic stones and strictures: experience in 80 patients.
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Bansal RK, Patil GK, Puri R, Choudhary NS, Patle SR, Sharma ZD, and Sud R
- Abstract
Background and Aim: There is paucity of data about endoscopic pancreatic sphincteroplasty (EPS) after endoscopic pancreatic sphincterotomy (EPST) in the treatment of chronic pancreatitis. The aim of this study was to establish the indications for EPS, complications related to it, and to examine its effectiveness in managing chronic pancreatitis after a year of follow-up., Methods: We evaluated the safety and efficacy of pancreatic balloon dilation coupled with sphincterotomy for the treatment of chronic pancreatitis. The technical success rate of balloon dilation, stone clearance, frequency of pancreatic stenting, and procedure-related adverse events were recorded., Results: Out of 580 patients who underwent pancreatic endotherapy between July 2014 and February 2016, 80 patients underwent EPS. The mean age of these 80 patients was 34 ± 11 years, and 80 % (n = 64) were males. The common indications were removal of large radiolucent stones in 31 patients; unyielding radiopaque stones post extracorporeal shock wave lithotripsy (ESWL) in 20 patients, and pancreatic duct stricture combined with stones in 29 patients. EPS could be successfully completed in 98.75 % of patients. Complete ductal clearance in a single session was achieved in only 25 patients, while 26 patients required two sessions. There were two adverse events of pain requiring admission for more than 24 hours and one procedure related bleeding, all of which were managed conservatively. The patients had an average follow-up of 8 months (6 - 12 months) and all the patients were pain free., Conclusions: Endoscopic pancreatic sphincteroplasty is a relatively safe procedure with a low incidence of complications and a high rate of treatment success.
- Published
- 2017
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191. Gastric Angioinvasive Mucormycosis in Immunocompetent Adult, A Rare Occurrence.
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Nasa M, Sharma Z, Lipi L, and Sud R
- Subjects
- Adult, Fatal Outcome, Humans, Immunocompetence, Male, Mucormycosis diagnosis, Stomach microbiology
- Abstract
Mucormycosis is a rare, opportunistic fungal infection that occurs almost exclusively in immunocompromised hosts such as patients with diabetes mellitus, leukemia, lymphoma, renal disease, septicemia, burns, malnutrition, and following long-term treatment with steroids and antibiotics. Based on the clinical presentation and involvement, mucormycosis is classified as six major forms, namely, rhinocerebral, pulmonary, cutaneous, gastrointestinal (GI), disseminated and miscellaneous, with rhinocerebral and pulmonary being the common forms. GI mucormycosis is rare, accounting for only 7% of all cases; however, the mortality rate is as high as 85%. Here we report a case of a young immunocompetent male who developed gastric invasive mucormycosis during an acute illness and succumbed to it despite all supportive care., (© Journal of the Association of Physicians of India 2011.)
- Published
- 2017
192. Results of Portosystemic Shunt Embolization in Selected Patients with Cirrhosis and Recurrent Hepatic Encephalopathy.
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Choudhary NS, Baijal SS, Saigal S, Agarwal A, Saraf N, Khandelwal R, Jain V, Khandelwal AH, Kapoor A, Jain D, Misra SR, Puri R, Sud R, and Soin AS
- Abstract
Background: Large portosystemic shunts (PSSs) may lead to recurrent encephalopathy in patients with cirrhosis and embolization of these shunts may improve encephalopathy., Material and Methods: Five patients underwent balloon-occluded retrograde transvenous obliteration (BRTO) or plug-assisted retrograde transvenous obliteration (PARTO) of a large PSS at our center in last 2 years for recurrent hepatic encephalopathy (HE) at a tertiary care center at north India. Data are shown as number and mean ± SD. None of these patients had Child's C cirrhosis or presence of large ascites/large varices., Results: Five patients (all males), aged 61 ± 7 years, underwent BRTO or PARTO for recurrent HE and presence of lienorenal ( n = 4) or mesocaval shunt ( n = 1). The etiology of cirrhosis was cryptogenic/non-alcoholic steatohepatitis in 3, and alcohol and hepatitis B in one each. All patients had Child's B cirrhosis; Child's score was 8.6 ± 0.5, model for end-stage liver disease (MELD) score was 13.4 ± 2.3. One patient had mild ascites; 3 patients had small esophageal varices before procedure. Sclerosants (combination of air, sodium tetradecyl sulphate, and lipiodol) were used in two patients, endovascular occlusion plugs were used in two patients, and both sclerosants and endovascular occlusion plug were used in one patient. Embolization of minor outflow veins to allow for stable deposition sclerosants in dominant shunt was done using embolization coils and glue in two patients. One patient needed 2 sessions. The pre-procedure ammonia was 127 ± 35 which decreased to 31 ± 17 after the shunt embolization. There was no recurrence of encephalopathy in any of these patients. One patient was lost to follow-up at 6 months; others are doing well at 6 months ( n = 2), 10 months ( n = 1) and 2 years ( n = 1). None of these patients developed further decompensation in the defined follow-up period., Conclusion: Good results can be obtained in selected patients after embolization of large PSS for recurrent HE.
- Published
- 2017
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193. Comparison of endoscopic ultrasound-guided fine-needle aspiration by capillary action, suction, and no suction methods: a randomized blinded study.
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Bansal RK, Choudhary NS, Puri R, Patle SK, Bhagat S, Nasa M, Bhasin A, Sarin H, Guleria M, and Sud R
- Abstract
Background and Study Aim: Different types of endoscopic ultrasound (EUS)-guided fine-needle aspiration (FNA) techniques are used in clinical practice; the best method in terms of outcome has not been determined. The aim of the study was to compare the diagnostic adequacy of aspirated material, and the cytopathological and EUS morphological features between capillary action, suction, and no-suction FNA methods., Patients and Methods: This was a prospective, single-blinded, randomized study conducted at a tertiary care hospital. Patients were randomized to the three groups: capillary action, suction, and no suction. A total of 300 patients were included, with 100 patients in each arm., Results: A total of 300 patients (195 males) underwent EUS-FNA of 235 lymph nodes and 65 pancreatic masses (distribution not statistically different between the groups). The mean age was 52 ± 14 years. A 22 gauge needle was used in the majority (93 %) of procedures. There was no statistical difference between the three groups regarding lymph node size at the largest axis and ratio, type of needle, echo features, echogenicity, calcification, necrosis, shape, borders (lymph nodes), number of passes, and cellularity. Diagnostic adequacy of the specimen was 91 %, 91 %, and 94 % in the capillary, suction, and no suction groups, respectively ( P = 0.67). Significantly more slides and blood clots were generated by the suction method compared with the other methods., Conclusion: The capillary action, suction, and no suction methods of EUS-FNA are similar in terms of diagnostic adequacy of the specimen. The suction method has the disadvantages of causing more bleeding and generating more slides.
- Published
- 2017
- Full Text
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194. Endoscopic pancreatic necrosectomy: why scuff when you can flush the muck - make it an easy row to hoe.
- Author
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Bansal RK, Puri R, Choudhary NS, Bhatia S, Patel N, Patle SK, Patil GK, Agarwal A, Prabha C, and Sud R
- Abstract
Background and Aims: Endoscopic ultrasound (EUS) guided drainage of symptomatic pancreatic walled-off necrosis (WON) followed by fully covered self-expanding metal stent (FCSEMS) placement offers several advantages such as higher technical success rate and the option of necrosectomy. The aim of this study was to evaluate the safety and efficacy of EUS guided drainage of patients with WON by using FCSEMS and intracavitary lavage with a solution containing hydrogen peroxide and adopting a step-up approach., Methods: A prospective open label study was carried out at a single tertiary care center between January 2014 and January 2016. Patients with symptomatic WON who underwent EUS guided drainage followed by FCSEMS placement were included. Primary end points were complete drainage with improvement in symptoms or major adverse events. Secondary end points were minor adverse events related to the procedures., Results: A total of 64 patients (mean age 36 years; 52 males) were included. Technical success was achieved in 100 % of patients and clinical success was achieved in 90.6 %. Complete drainage was achieved with FCSEMS alone in 18 (28.1 %), FCSEMS with necrosectomy using lavage in 40 (62.5 %), FCSEMS with percutaneous drainage (PCD) in 5 (7.8 %), and 1 (1.6 %) patient required salvage surgery. The major adverse event was life threatening bleeding in 3 (4.7 %) patients. Minor adverse events were non-life threatening bleeding in 2 (3.1 %) patients and stent migration in 3 (4.7 %) patients., Conclusion: EUS guided WON drainage with FCSEMS followed by necrosectomy with lavage using a solution containing hydrogen peroxide as a step-up approach is a minimally invasive and effective method with a high technical and clinical success rate. Patients with solid debris > 40 % need aggressive management.
- Published
- 2017
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195. Skeletal Muscle Channelopathies: Rare Disorders with Common Pediatric Symptoms.
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Matthews E, Silwal A, Sud R, Hanna MG, Manzur AY, Muntoni F, and Munot P
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- Absenteeism, Adolescent, Airway Obstruction, Channelopathies diagnosis, Child, Child, Preschool, Contracture etiology, Diplopia etiology, Female, Gait Disorders, Neurologic, Humans, Infant, Infant, Newborn, Male, Muscle Cramp etiology, Muscle Hypotonia etiology, Myotonic Disorders genetics, NAV1.4 Voltage-Gated Sodium Channel genetics, Respiratory Sounds etiology, Retrospective Studies, Scoliosis etiology, Strabismus etiology, Channelopathies complications, Myotonic Disorders diagnosis, Sodium Channels genetics
- Abstract
Objective: To ascertain the presenting symptoms of children with skeletal muscle channelopathies to promote early diagnosis and treatment., Study Design: Retrospective case review of 38 children with a skeletal muscle channelopathy attending the specialist pediatric neuromuscular service at Great Ormond Street Hospital over a 15-year period., Results: Gait disorder and leg cramps are a frequent presentation of myotonic disorders (19 of 29). Strabismus or extraocular myotonia (9 of 19) and respiratory and/or bulbar symptoms (11 of 19) are common among those with sodium channelopathy. Neonatal hypotonia was observed in periodic paralysis. Scoliosis and/or contractures were demonstrated in 6 of 38 children. School attendance or ability to engage fully in all activities was often limited (25 of 38)., Conclusions: Children with skeletal muscle channelopathies frequently display symptoms that are uncommon in adult disease. Any child presenting with abnormal gait, leg cramps, or strabismus, especially if intermittent, should prompt examination for myotonia. Those with sodium channel disease should be monitored for respiratory or bulbar complications. Neonatal hypotonia can herald periodic paralysis. Early diagnosis is essential for children to reach their full educational potential., (Copyright © 2017 Elsevier Inc. All rights reserved.)
- Published
- 2017
- Full Text
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196. Comparison of Dyslipidemia in Pre-diabetes and Diabetes-A Pilot study.
- Author
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Bhatnagar MK, Jagdish RK, and Sud R
- Subjects
- Cholesterol blood, Humans, Pilot Projects, Triglycerides blood, Diabetes Mellitus blood, Dyslipidemias blood, Prediabetic State blood
- Published
- 2017
197. Takayasu Arteritis and Spondyloarthritis: Coincidence or Association? A Study of 14 Cases.
- Author
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Rivière E, Arnaud L, Ebbo M, Allanore Y, Claudepierre P, Dernis E, Ziza JM, Miceli-Richard C, Philippe P, Richez C, Soubrier M, Belkhir R, Seror R, Mariette X, and Pavy S
- Subjects
- Acute-Phase Proteins analysis, Adrenal Cortex Hormones therapeutic use, Adult, Aged, Biological Products therapeutic use, Female, Humans, Male, Middle Aged, Retrospective Studies, Spondylarthritis diagnosis, Spondylarthritis drug therapy, Symptom Assessment, Takayasu Arteritis diagnosis, Takayasu Arteritis drug therapy, Tomography, X-Ray Computed, Treatment Outcome, Tumor Necrosis Factor-alpha antagonists & inhibitors, Ultrasonography, Doppler, Young Adult, Antirheumatic Agents therapeutic use, Spondylarthritis complications, Takayasu Arteritis complications
- Abstract
Objective: Spondyloarthritis (SpA) and Takayasu arteritis (TA) are 2 chronic inflammatory diseases; their coexistence in a single patient is uncommon. The aims of our study were to describe clinical features of patients having SpA associated with TA and to identify some characteristics of the types of patients with SpA associated with TA. We also analyzed treatments used in this context., Methods: This French multicenter retrospective survey called for observations on behalf of the Club Rhumatismes et Inflammations, with a standardized questionnaire established by the investigators., Results: We included 14 patients (women: 10/14; median age at SpA diagnosis: 43.5 yrs, ranging from 19 to 63). Subtypes of SpA were ankylosing spondylitis (n = 11), psoriatic arthritis (n = 2), and synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome (n = 1). HLA-B27 was positive in 3 cases, negative in 9, and unknown in 2. SpA was diagnosed before TA in 13 cases. Imaging findings compatible with the diagnosis of TA were found with computed tomography (11/14) and/or Doppler ultrasound (10/14). Laboratory tests showed increased acute-phase reactants in all cases (C-reactive protein ≥ 25 mg/l in 71% of the cases). All patients except 1 received corticosteroids and 7 were treated with anti-tumor necrosis factor (anti-TNF)., Conclusion: Association of SpA and TA is rare but probably not coincidental. Peripheral pulse palpation and vascular auscultation should be systematic and are the first indicators of TA in patients with SpA. Moreover, increased acute-phase reactants during SpA followup should lead to search for TA. Finally, there are therapeutic implications because anti-TNF are efficient in SpA and might be efficient in TA.
- Published
- 2017
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198. Stress-Tolerant Viridibacillus arenosi Strain IHB B 7171 from Tea Rhizosphere as a Potential Broad-Spectrum Microbial Inoculant.
- Author
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Thakur R, Sharma KC, Gulati A, Sud RK, and Gulati A
- Abstract
Viridibacillus arenosi strain IHB B 7171 identified based on 16S rRNA gene sequence produced colony forming units (cfu/ml) ranging from 3.3 × 10
4 to 1.2 × 1010 under pH 5-11, 2.2 × 102 to 1.4 × 1010 for temperature 5-40 °C, 2.4 × 102 to 1.1 × 1010 for PEG 6000 10-30%, 2.2 × 102 to 1.4 × 1010 for 2.5-10% NaCl, 3.1 × 103 to 1.7 × 109 for 2.5-7.5 mM CaCl2 , 2.2 × 102 to 1.4 × 107 for 2.5-7.5 mM AlCl3 , and 3.2 × 102 to 1.2 × 107 for 2.5-7.5 mM FeCl3 . The activities of plant growth-promoting attributes with the increasing acidity, desiccation and salinity ranged from 408 to 101, 20 to 8, 14 to 5 µg/ml P-liberated from tri-calcium phosphate, aluminium phosphate and iron phosphate, 20-9% siderophore units, 14-4 µg/ml IAA and 190-16 α -ketobutyrate h/mg protein ACC-deaminase activity. Plant height, leaf number, and leaf weight on treatment with bacterial inoculum showed an increment of 9.5, 17.6, 54.5 and 31.0% in tea seedlings, respectively. The bacterium also enhanced plant height and yield by 10 and 13% in pea and 2.8 and 13.9% in wheat. The results exhibited stress-tolerance and plant growth-promoting activities by the strain under stressed growth-conditions with potential as a broad-spectrum plant growth-promoting rhizobacterium.- Published
- 2017
- Full Text
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199. Early Recognition of Malaria or Dengue in Thrombocytopenic Febrile Illness.
- Author
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Bhatnagar MK, Jagdish RK, Yadav SK, and Sud R
- Subjects
- Humans, Kidney Function Tests, Liver Function Tests, Symptom Assessment, Thrombocytopenia etiology, Time Factors, Dengue complications, Malaria complications, Thrombocytopenia diagnosis, Thrombocytopenia drug therapy
- Published
- 2017
200. Yield of endoscopic ultrasound-guided fine needle aspiration for subcentimetric lymph nodes: A comparison to larger nodes.
- Author
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Choudhary NS, Bodh V, Kumar N, Puri R, Sarin H, Guleria M, Piplani T, Krishan S, Rai R, and Sud R
- Abstract
Background and Objectives: Subcentimetric (defined as <1 cm at short axis) lymph nodes are considered benign and there is limited literature on the results of fine needle aspiration (FNA) of these nodes., Methods: Endoscopic ultrasound (EUS) guided FNA was done on 189 lymph nodes in 166 patients with pyrexia of unknown origin (n = 113) or malignancy (n = 53). Subcentimetric lymph nodes (Group A) were compared to nodes with short axis diameter ≥1 cm (Group B). Data are shown as number, percentage, and median (25-75 interquartile range)., Results: There was no significant difference between Group A and Group B regarding site of lymph nodes (mediastinal in 73.6 and 72.5%, abdominal in 26.3 vs. 27.4%), number of slides (median 14 vs. 15), needle passes (median 2), and needle used (22 G needle in 85.5% vs. 69.9%). Group A had significantly lesser long axis diameter (1.5 [1.2-2] vs. 2.1 [1.6-2.9] cm) and short axis diameter (0.7 [0.6-0.8) vs. 1.4 [1.1-1.6] cm). A diagnosis (pathologic or reactive) could not be made in 2 (2.6%) and 11 (9.7%) lymph nodes in Group A and Group B, respectively (P = 0.078), due to inadequate material. Respective diagnoses in Group A and Group B were reactive lymphadenopathy (51.3% vs. 18.5%, P = 0.000), granulomatous lymphadenopathy (34.2% vs. 53%, P = 0.011), and malignancy (11.8% vs. 18.5%, P = 0.231). The lymph nodes with granulomatous and malignant change were significantly larger and had higher chances of having sharply demarcated borders as compared to reactive nodes., Conclusion: EUS-guided FNA of subcentimetric lymph nodes have comparable results to larger nodes. Almost half of the subcentimetric lymph nodes are pathologic.
- Published
- 2017
- Full Text
- View/download PDF
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