Duchenne muscular dystrophy (DMD), an inherited X-linked recessive disorder, is characterized by progressive symmetric muscle weakness and gait disturbance, with onset in early childhood. DMD is the most common muscular dystrophy in children, and incidence ranges from 1 in 3600 to 4700 live male births. Early diagnosis (screening, confirmation, and genetic counseling), treatment, and long-term follow-up of affected individuals in routine pediatric practice can be challenging and are the focus of this review.

10.1177/0009922810378738

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Hypoplasia of the right hepatic lobe associated with portal hypertension and retroperitoneal fibrosis

Medical Journal of Dr D Y Patil Vidyapeeth (2020)

JayKantilal Satapara Sumit Verma Lata Kumari S.L. Chudasama

Hypoplasia of the right hepatic lobe is a rare and usually asymptomatic anomaly, which sometimes may be associated with portal hypertension but rarely with retroperitoneal fibrosis. We report one such rare case of hypoplastic right hepatic lobe associated with portal hypertension and retroperitoneal fibrosis. A 45-year-old nonalcoholic male presented with a chief complaint of hematemesis. Serum investigations were normal and inconclusive, so computed tomography was performed which showed right hepatic lobe hypoplasia, esophageal varices, and retroperitoneal fibrosis. Since all other causes of acquired liver atrophy had been ruled out, we considered this case to be of congenital origin. Although it is a rare anomaly, it should be kept in mind to avoid fatal surgical complication.

Congenital hepatic fibrosis

Hepatic fibrosis

10.4103/mjdrdypu.mjdrdypu_98_19

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Epg5 links proteotoxic stress due to defective autophagic clearance and epileptogenesis in Drosophila and vici syndrome patients

Autophagy (2024)

Celine Deneubourg Hormos Salimi Dafsari Simon A. Lowe Aitana Martinez-Cotrina David Mazaud

Epilepsy is a common neurological condition that arises from dysfunctional neuronal circuit control due to either acquired or innate disorders. Autophagy is an essential neuronal housekeeping mechanism, which causes severe proteotoxic stress when impaired. Autophagy impairment has been associated to epileptogenesis through a variety of molecular mechanisms. Vici Syndrome (VS) is the paradigmatic congenital autophagy disorder in humans due to recessive variants in the ectopic P-granules autophagy tethering factor 5 (EPG5) gene that is crucial for autophagosome-lysosome fusion and autophagic clearance. Here, we used Drosophila melanogaster to study the importance of Epg5 in development, aging, and seizures. Our data indicate that proteotoxic stress due to impaired autophagic clearance and seizure-like behaviors correlate and are commonly regulated, suggesting that seizures occur as a direct consequence of proteotoxic stress and age-dependent neurodegenerative progression. We provide complementary evidence from EPG5-mutated patients demonstrating an epilepsy phenotype consistent with Drosophila predictions.Abbreviations: AD: Alzheimer's disease; ALS-FTD: Amyotrophic Lateral Sclerosis-FrontoTemoporal Dementia; DART: Drosophila Arousal Tracking; ECoG: electrocorticogram; EEG: electroencephalogram; EPG5: ectopic P-granules 5 autophagy tethering factor; KA: kainic acid; MBs: mushroom bodies; MRI magnetic resonance imaging; MTOR: mechanistic target of rapamycin kinase; PD: Parkinson's disease; TSC: TSC complex; VS: Vici syndrome.

10.1080/15548627.2024.2405956

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SCARF: SAXAGLIPTIN AND CARDIAC STRUCTURE AND FUNCTION

Canadian Journal of Cardiology (2019)

Sumit Verma P. Sandhu Mustafa Abdul Selam Olugbenga Bello Vivek Garg

Saxagliptin

Angiology

10.1016/j.cjca.2019.07.532

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Contributors

Elsevier eBooks (2025)

Rajaneesh Anupam Preeti Bajpai Priyanka Basera Shuchishloka Chakraborty Animesh Chatterjee

10.1016/b978-0-443-15283-2.01002-2

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CSF IL-8 as a potential marker for gene therapy outcomes in Spinal Muscular Atrophy (P17-5.005)

Neurology (2022)

Sumit Verma Kelsey Perry Christina Howell Raj Razdan Alice Dawson

Cerebrospinal fluid (CSF) biomarkers in Spinal Muscular Atrophy (SMA).

Thursday

10.1212/wnl.98.18_supplement.3033

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Anti-Adeno-Associated virus (AAV) neutralizing antibody (Nab) titers in Duchenne muscular dystrophy (DMD) (5013)

Neurology (2021)

Sumit Verma Raj Razdan Saila Upadhyayula Han C. Phan David Lee

To study the prevalence of anti-AAV types 2 and 9 Nab titers in the DMD cohort.

Antibody titer

10.1212/wnl.96.15_supplement.5013

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Worsening Thoracic Impedance as a Ventricular Tachyarrhythmia Risk

Reviews in Cardiovascular Medicine (2014)

Bernard Abi‐Saleh Christopher Malozzi Edriss Charaf Bassam Omar Clara V. Massey

The use of heart failure classification to identify patients with systolic dysfunction who are at risk for ventricular tachyarrhythmias (VAs), sudden cardiac death, and shocks from implantable cardioverter defibrillators (ICDs) is limited by its subjectivity. Measurement of thoracic impedance offers a more objective tool for assessing worsening of heart failure. We sought to look at the correlation between ventricular arrhythmia and heart failure as assessed objectively by thoracic impedance. We reviewed device interrogation data on thoracic impedance from ICD with Medtronic's OptiVol® feature (Medtronic Inc., Minneapolis, MN) at two medical centers. Data from the last two interrogations of the same device separated by at least 2 months were included. An OptiVol fluid index threshold of 60 represented early heart failure prior to appearance of symptoms. VAs included were ventricular fibrillation and/or ventricular tachycardia lasting more than 16 beats. Chi square distribution test was used in statistical data analysis. There were 24 VAs identified among the 322 interrogations reviewed (7.5%). Elevated OptiVol fluid index was seen in 71% (17/24), whereas normal OptiVol index was seen in the remaining 29% (7/24) of these interrogations with VA (P < .05). Our review shows that heart failure patients who have VA are approximately 2.5 times as likely to have worsening thoracic impedance as assessed objectively by the OptiVol fluid index. Careful monitoring of the OptiVol fluid index may identify a population at high risk of VA that merits more intense attention.

Sudden Death

10.3909/ricm0665

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ADIPONECTIN REGULATES MONOCYTE MICROPARTICLE PRODUCTION AND ENDOTHELIAL ACTIVATION

Canadian Journal of Cardiology (2015)

Mehroz Ehsan Fina Lovren Yi Pan Adrian Quan Laura E. Mantella

Monocyte

10.1016/j.cjca.2015.07.211

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