443 results on '"K Gowda"'
Search Results
2. Clinical Outcome of Arthroscopic Management of Mucoid Degeneration of Anterior Cruciate Ligament
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Madan Mohan Ballal, K. J. C. Chidanand, Vijendra Yadav, Akshay Dhanda, Chetan Nagaraja, and Sachin K. Gowda
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anterior cruciate ligament ,arthroscopic debridement ,mucoid degeneration ,notchplasty ,Medicine - Abstract
Introduction: Mucoid degeneration of the anterior cruciate ligament (MDACL) is a poorly understood entity. The collection of mucinous material in the substance of anterior cruciate ligament (ACL) produces pain and thus limits motion in the knee. This study involves clinic-radiological presentation of patients with mucoid ACL, arthroscopic de-bulking of ACL and outcomes. Materials and Methods: Between September 2021 and October 2022, 24 patients were diagnosed with MDACL. All cases were examined clinically followed by magnetic resonance imaging (MRI) then confirmed by arthroscopy findings and then were sent for histopathology reporting. Clinical data, including pain location, terminal flexion or extension pain, range of motion, Lysholm knee score, and International Knee Documentation Committee score, were assessed pre- and postoperatively. MRI showing an increased signal of the ACL in T1-and T2-weighted images was reported as mucoid degeneration of the ACL by the radiologist. Upon arthroscopy, the ACL had a homogenous, bulbous, hypertrophied, and taut appearance occupying most of the intercondylar notch space. Debulking of the ACL was performed by excision of the degenerated mucoid tissue, leaving behind as much of the intact ACL as possible, and notchplasty helped prevent impingement of the ACL against the roof and lateral wall. Unfortunately, in 4 (16.67%) patients, we had to reconstruct the ligament due to the ACL insufficiency to stabilize the knee. Results: Thirteen patients were males (54.17%), and eleven (45.83%) patients were females, with a mean age of 36.7 years for males (range 19–63 years) and 41.7 years for females (range 28–73 years). All patients had pain in deep flexion, with 70.8% (n = 1 7) reporting trivial trauma before the onset of symptoms. On terminal flexion/extension, pain relief was obtained in 19 of 20 knees, ranging from good to excellent. Stability tests for ACL showed a firm endpoint in all. GNRB arthrometer examination revealed a tibial translation comparable to the noninvolved side, and 85% (n = 20) showed good to excellent subjective satisfaction. Conclusions: Prior knowledge of the condition with a high suspicion index and careful MRI interpretation can establish the diagnosis preoperatively. They respond well to a judicious arthroscopic debulking of the ACL with or without notchplasty, improving patient satisfaction and function without causing clinical instability in daily activities. However, young patients should be forewarned about the risk of instability, and the necessity of ACL reconstruction in the future.
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- 2024
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3. A Single-Center Cross-Sectional Observational Study on Dermoscopy of Genital Mucosal Disorders in a Tertiary Care Center in Central India
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Shreya K Gowda, Dinesh P Asati, Hemlata Panwar, Ajay Halder, Vikas Gupta, Amulya M Lakshman, Priyanka Verma, and Young Denla
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dermoscopy ,genital dermatoses ,mucosal dermatoses ,mucoscopy ,nonvenereal dermatoses ,Dermatology ,RL1-803 - Abstract
Introduction: Dermoscopy of mucosa is known as mucoscopy. Mucoscopy can aid in delineating minute aspects of mucosal lesions and will guide in the differentiation of similar-looking lesions. To date, there are only a few studies on mucoscopy of genital dermatoses especially from India. Aim and Objectives: The study aims to describe mucoscopic features and correlate histopathologically in various genital mucosal diseases. Materials and Methods: The study was conducted in a tertiary care center in Central India after IHEC approval between October 2020 and April 2022, and the sampling technique was based on a convenience purposive method. Any genital mucosal diseases were included in patients above 18 years of age. Sexually transmitted diseases in general were excluded, however, warts and molluscum contagiosum were included. All patients fulfilling the inclusion criteria were examined after proper informed consent, and the clinical images were photographed using iPhone 11. Dermoscopic images were taken using a DermLite DL4 dermoscope in polarized mode at 10X magnification. Results: A total of 206 patients were recruited, and mucoscopy features were analyzed. Dermoscopic findings of physiological conditions such as vestibular papillomatosis, pearly penile papules, and Fordyce spots were evaluated. Inflammatory conditions such as lichen planus, pemphigus, and psoriasis were analyzed. Mucoscopy of lichen sclerosus showed white structureless areas (100%), follicular plugs (35%), as well as dotted and linear vessels (80%). Circinate balanitis revealed regular red dotted vessels (100%), coalescing pustules in annular and polycyclic patterns (90%). Squamous cell carcinoma of the penis showed ulceration, serpentine, looped vessels, white structureless area, and yellow-brown crust in a pink background. Limitations: In our study, because of the inclusion of various diseases, sample size was inadequate, biopsies were not performed in all cases, and variations in mucoscopic features in patients who are already on therapy could not be assessed. Haziness while capturing pictures because of mist formation was hindering the quality of pictures. As patients with premalignant and malignant cases were less, the predicting features for malignant transformation or pathognomoniic signs could not be assessed. Conclusion: Various dermoscopies have been studied extensively, but the mucoscopy is still a gray area. The results of this study revealed the dermoscopic features of various genital disorders and histopathological correlation in few cases. However, biopsy was not performed in all mucosal disorders; hence, conclusive correlation could not be extrapolated.
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- 2024
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4. A Review on Cutaneous Manifestations of Cerebrovascular Accident
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Shreya K Gowda, Sonali Gupta, and Priyanka Verma
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Dermatology ,RL1-803 - Published
- 2024
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5. Advancing date palm cultivation in the Arabian Peninsula and beyond: Addressing stress tolerance, genetic diversity, and sustainable practices
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Soumya Koippully Manikandan, Dharshini Jenifer. A, Nisarga K. Gowda, Vaishakh Nair, Rami Al-Ruzouq, Mohamed Barakat A. Gibril, Fouad Lamghari, John Klironomos, Maryam Al Hmoudi, Mohamed Sheteiwy, and Ali El-Keblawy
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Date palm ,Abiotic stress ,Soil salinity ,Genetic diversity ,Arabian Peninsula ,Remote sensing ,Agriculture (General) ,S1-972 ,Agricultural industries ,HD9000-9495 - Abstract
Date palm (Phoenix dactylifera L.) cultivation in the Arabian Peninsula is crucial for regional agriculture and global markets. The Arabian Peninsula is dominant in date production, contributing approximately 34 % of the global output. Recent advancements in agricultural technologies have improved fruit yield and quality, expanding date palm cultivation globally. However, sustainability challenges persist due to various abiotic stresses, such as salinity, temperature extremes, drought, soil factors, and biotic stresses, including diseases and pests. This review examines key environmental factors affecting date palm cultivation, with a focus on soil salinity, water scarcity, and climate change-related stresses. The genetic diversity among date palm varieties is emphasized, highlighting the need for breeding programs aimed at improving stress tolerance and yield. Biotechnological advancements, such as genetic transformation and genome editing, are discussed for their potential to enhance crop resilience and productivity. Additionally, remote sensing techniques are explored for their application in precision agriculture, particularly in the mapping and monitoring of date palm health and soil conditions. The significant role of artificial intelligence in accurately mapping date palm trees using multi-platform remotely sensed data is also reviewed, illustrating its potential to enhance geospatial databases and support sustainable management practices. The review concludes with recommendations for optimizing cultivar selection and management strategies tailored to local conditions, emphasizing the need for ongoing research to advance date palm cultivation on a global scale.
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- 2025
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6. Trichoscopic Features of Lichen Planopilaris versus Frontal Fibrosing Alopecia: A Systematic Review
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Shreya K. Gowda, Enzo Errichetti, Biswanath Behera, and Vishal Thakur
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dermoscopy ,Lichen planopilaris ,trichology ,Dermatology ,RL1-803 - Abstract
Introduction: Lichen planopilaris (LPP) and frontal fibrosing alopecia (FFA) are primary scarring alopecias that few authors consider the same entity, and some consider them different. Objective: We describe and summarize the trichoscopy features of both conditions. Methods: We performed extensive literature search using the PubMed and Google Scholar databases. The Chi-square test was applied to for calculating the proportions of dermoscopic features in LPP and FFA. P- values less than 0.05 were considered statistically significant. Results: Out of 60 articles, 33 (16 LPP, 17 FFA) were considered for quantitative analysis due to availability in English literature with full text. We found that peripilar cylindrical casts and perifollicular redness with arborizing vessels were predominant features suggesting early LPP. In contrast, yellow dots, perifollicular erythema, and scattered pigmentation suggested active FFA. Shiny white area was seen in both groups in the inactive stages. The target arrangement of blue-grey dots, milky-red areas, and irregularly arranged white fibrotic dots were seen in late LPP, and black dots, lonely hairs, and loss of vellus hairs were detected in the later stages of FFA. Features such as blue-grey structureless areas, blue-white veil, and variability in morphologies of hair shafts were nonspecific. Conclusion: This article provides a comprehensive literature review, correlating dermoscopic features with histopathological findings and the similarities, differences, and peculiarities of LPP and FFA.
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- 2025
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7. Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy
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Emily Banks, Vincent Francis, Sheng-Jia Lin, Fares Kharfallah, Vladimir Fonov, Maxime Lévesque, Chanshuai Han, Gopinath Kulasekaran, Marius Tuznik, Armin Bayati, Reem Al-Khater, Fowzan S. Alkuraya, Loukas Argyriou, Meisam Babaei, Melanie Bahlo, Behnoosh Bakhshoodeh, Eileen Barr, Lauren Bartik, Mahmoud Bassiony, Miriam Bertrand, Dominique Braun, Rebecca Buchert, Mauro Budetta, Maxime Cadieux-Dion, Daniel G. Calame, Heidi Cope, Donna Cushing, Stephanie Efthymiou, Marwa Abd Elmaksoud, Huda G. El Said, Tawfiq Froukh, Harinder K. Gill, Joseph G. Gleeson, Laura Gogoll, Elaine S.-Y. Goh, Vykuntaraju K. Gowda, Tobias B. Haack, Mais O. Hashem, Stefan Hauser, Trevor L. Hoffman, Jacob S. Hogue, Akimoto Hosokawa, Henry Houlden, Kevin Huang, Stephanie Huynh, Ehsan G. Karimiani, Silke Kaulfuß, G. Christoph Korenke, Amy Kritzer, Hane Lee, James R. Lupski, Elysa J. Marco, Kirsty McWalter, Arakel Minassian, Berge A. Minassian, David Murphy, Juanita Neira-Fresneda, Hope Northrup, Denis M. Nyaga, Barbara Oehl-Jaschkowitz, Matthew Osmond, Richard Person, Davut Pehlivan, Cassidy Petree, Lynette G. Sadleir, Carol Saunders, Ludger Schoels, Vandana Shashi, Rebecca C. Spillmann, Varunvenkat M. Srinivasan, Paria N. Torbati, Tulay Tos, Undiagnosed Diseases Network, Maha S. Zaki, Dihong Zhou, Christiane Zweier, Jean-François Trempe, Thomas M. Durcan, Ziv Gan-Or, Massimo Avoli, Cesar Alves, Gaurav K. Varshney, Reza Maroofian, David A. Rudko, and Peter S. McPherson
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Science - Abstract
Abstract Developmental and epileptic encephalopathies (DEEs) feature altered brain development, developmental delay and seizures, with seizures exacerbating developmental delay. Here we identify a cohort with biallelic variants in DENND5A, encoding a membrane trafficking protein, and develop animal models with phenotypes like the human syndrome. We demonstrate that DENND5A interacts with Pals1/MUPP1, components of the Crumbs apical polarity complex required for symmetrical division of neural progenitor cells. Human induced pluripotent stem cells lacking DENND5A fail to undergo symmetric cell division with an inherent propensity to differentiate into neurons. These phenotypes result from misalignment of the mitotic spindle in apical neural progenitors. Cells lacking DENND5A orient away from the proliferative apical domain surrounding the ventricles, biasing daughter cells towards a more fate-committed state, ultimately shortening the period of neurogenesis. This study provides a mechanism for DENND5A-related DEE that may be generalizable to other developmental conditions and provides variant-specific clinical information for physicians and families.
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- 2024
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8. Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India
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Harsh Sheth, Aadhira Nair, Riddhi Bhavsar, Mahesh Kamate, Vykuntaraju K. Gowda, Ashish Bavdekar, Sandeep Kadam, Sheela Nampoothiri, Inusha Panigrahi, Anupriya Kaur, Siddharth Shah, Sanjeev Mehta, Sujatha Jagadeesan, Indrani Suresh, Seema Kapoor, Shruti Bajaj, Radha Rama Devi, Ashka Prajapati, Koumudi Godbole, Harsh Patel, Zulfiqar Luhar, Raju C. Shah, Anand Iyer, Sunita Bijarnia, Ratna Puri, Mamta Muranjan, Ami Shah, Suvarna Magar, Neerja Gupta, Naresh Tayade, Ajit Gandhi, Ajit Sowani, Shrutikaa Kale, Anil Jalan, Dhaval Solanki, Ashwin Dalal, Shrikant Mane, C. Ratna Prabha, Frenny Sheth, Chaitanya G. Joshi, Madhvi Joshi, and Jayesh Sheth
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Lysosomal storage disorders ,smMIP probes ,Dried blood spot ,Diagnostic yield ,Cost effective ,Medicine ,Genetics ,QH426-470 - Abstract
Abstract Background Current clinical diagnosis pathway for lysosomal storage disorders (LSDs) involves sequential biochemical enzymatic tests followed by DNA sequencing, which is iterative, has low diagnostic yield and is costly due to overlapping clinical presentations. Here, we describe a novel low-cost and high-throughput sequencing assay using single-molecule molecular inversion probes (smMIPs) to screen for causative single nucleotide variants (SNVs) and copy number variants (CNVs) in genes associated with 29 common LSDs in India. Results 903 smMIPs were designed to target exon and exon–intron boundaries of targeted genes (n = 23; 53.7 kb of the human genome) and were equimolarly pooled to create a sequencing library. After extensive validation in a cohort of 50 patients, we screened 300 patients with either biochemical diagnosis (n = 187) or clinical suspicion (n = 113) of LSDs. A diagnostic yield of 83.4% was observed in patients with prior biochemical diagnosis of LSD. Furthermore, diagnostic yield of 73.9% (n = 54/73) was observed in patients with high clinical suspicion of LSD in contrast with 2.4% (n = 1/40) in patients with low clinical suspicion of LSD. In addition to detecting SNVs, the assay could detect single and multi-exon copy number variants with high confidence. Critically, Niemann-Pick disease type C and neuronal ceroid lipofuscinosis-6 diseases for which biochemical testing is unavailable, could be diagnosed using our assay. Lastly, we observed a non-inferior performance of the assay in DNA extracted from dried blood spots in comparison with whole blood. Conclusion We developed a flexible and scalable assay to reliably detect genetic causes of 29 common LSDs in India. The assay consolidates the detection of multiple variant types in multiple sample types while having improved diagnostic yield at same or lower cost compared to current clinical paradigm.
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- 2024
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9. Noonan Syndrome Like with Loose Anagen-1 due to SHOC2 Mutation—A Report of Two Cases from India
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Vykuntaraju K. Gowda, Deepa B. Yalagishettar, Varunvenkat M. Srinivasan, and Sahana M. Srinivas
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Dermatology ,RL1-803 - Published
- 2024
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10. Disseminated Spina Ventosa in an Immunocompetent Young Girl
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Shreya K. Gowda, Biswanath Behera, and Vishal Thakur
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Dermatology ,RL1-803 - Published
- 2024
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11. Landscape of genetic infantile epileptic spasms syndrome—A multicenter cohort of 124 children from India
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Balamurugan Nagarajan, Vykuntaraju K. Gowda, Sangeetha Yoganathan, Indar Kumar Sharawat, Kavita Srivastava, Nitish Vora, Rahul Badheka, Sumita Danda, Umesh Kalane, Anupriya Kaur, Priyanka Madaan, Sanjiv Mehta, Sandeep Negi, Prateek Kumar Panda, Surekha Rajadhyaksha, Arushi Gahlot Saini, Lokesh Saini, Siddharth Shah, Varunvenkat M. Srinivasan, Renu Suthar, Maya Thomas, Sameer Vyas, Naveen Sankhyan, and Jitendra Kumar Sahu
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developmental and epileptic encephalopathy ,genetic epileptic spasms ,genetic infantile spasms ,genetic West ,Neurology. Diseases of the nervous system ,RC346-429 - Abstract
Abstract Objective Literature on the genotypic spectrum of Infantile Epileptic Spasms Syndrome (IESS) in children is scarce in developing countries. This multicentre collaboration evaluated the genotypic and phenotypic landscape of genetic IESS in Indian children. Methods Between January 2021 and June 2022, this cross‐sectional study was conducted at six centers in India. Children with genetically confirmed IESS, without definite structural‐genetic and structural‐metabolic etiology, were recruited and underwent detailed in‐person assessment for phenotypic characterization. The multicentric data on the genotypic and phenotypic characteristics of genetic IESS were collated and analyzed. Results Of 124 probands (60% boys, history of consanguinity in 15%) with genetic IESS, 105 had single gene disorders (104 nuclear and one mitochondrial), including one with concurrent triple repeat disorder (fragile X syndrome), and 19 had chromosomal disorders. Of 105 single gene disorders, 51 individual genes (92 variants including 25 novel) were identified. Nearly 85% of children with monogenic nuclear disorders had autosomal inheritance (dominant‐55.2%, recessive‐14.2%), while the rest had X‐linked inheritance. Underlying chromosomal disorders included trisomy 21 (n = 14), Xq28 duplication (n = 2), and others (n = 3). Trisomy 21 (n = 14), ALDH7A1 (n = 10), SCN2A (n = 7), CDKL5 (n = 6), ALG13 (n = 5), KCNQ2 (n = 4), STXBP1 (n = 4), SCN1A (n = 4), NTRK2 (n = 4), and WWOX (n = 4) were the dominant single gene causes of genetic IESS. The median age at the onset of epileptic spasms (ES) and establishment of genetic diagnosis was 5 and 12 months, respectively. Pre‐existing developmental delay (94.3%), early age at onset of ES (
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- 2023
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12. Pure cerebellar ataxia due to bi‐allelic PRDX3 variants including recurring p.Asp202Asn
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Stephanie Efthymiou, Luiz E. Novis, Georgios Koutsis, Chrysoula Koniari, Reza Maroofian, Valentina Turchetti, Georgios Velonakis, Luiz F. Vasconcellos, Salmo Raskin, Varunvenkat M. Srinivasan, Alistair T. Pagnamenta, Yaramanchanahalli B. Arun, Uddhava V. Kinhal, Vykuntaraju K. Gowda, Helio A. G. Teive, and Henry Houlden
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Neurosciences. Biological psychiatry. Neuropsychiatry ,RC321-571 ,Neurology. Diseases of the nervous system ,RC346-429 - Abstract
Abstract Bi‐allelic variants in peroxiredoxin 3 (PRDX3) have only recently been associated with autosomal recessive spinocerebellar ataxia characterized by early onset slowly progressive cerebellar ataxia, variably associated with hyperkinetic and hypokinetic features, accompanied by cerebellar atrophy and occasional olivary and brainstem involvement. Herein, we describe a further simplex case carrying a reported PRDX3 variant as well as two additional cases with novel variants. We report the first Brazilian patient with SCAR32, replicating the pathogenic status of a known variant. All presented cases from the Brazilian and Indian populations expand the phenotypic spectrum of the disease by displaying prominent neuroradiological findings. SCAR32, although rare, should be included in the differential diagnosis of sporadic or recessive childhood and adolescent‐onset pure and complex cerebellar ataxia.
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- 2023
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13. The combined neurogenetic disorders; blended phenotype of Metachromatic Leukodystrophy (MLD) and glutaric aciduria type 1 (GA -1) in an Indian child
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Vykuntaraju K Gowda, Viveka Santhosh Reddy, Varunvenkat M Srinivasan, and Dhananjaya K Vamyanmane
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Neurology. Diseases of the nervous system ,RC346-429 - Published
- 2024
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14. Hereditary Sensory and Autonomic Neuropathy—Report of Two Cases in Siblings and Review of Literature
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Shreya K Gowda, Sonika Garg, Biswanath Behera, Bevan Priyadharsan, and Vishal Thakur
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Dermatology ,RL1-803 - Published
- 2024
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15. Association of Scrub Typhus in Children with Acute Encephalitis Syndrome and Meningoencephalitis, Southern India
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Tina Damodar, Bhagteshwar Singh, Namratha Prabhu, Srilatha Marate, Vykuntaraju K. Gowda, A.V. Lalitha, Fulton Sebastian Dsouza, Sushma Veeranna Sajjan, Mallesh Kariyappa, Uddhava V. Kinhal, P.V. Prathyusha, Anita Desai, Kandavel Thennarasu, Tom Solomon, Vasanthapuram Ravi, and Ravi Yadav
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scrub typhus ,acute febrile encephalopathy ,central nervous system infections ,encephalitis ,Orientia tsutsugamushi ,vector-borne infections ,Medicine ,Infectious and parasitic diseases ,RC109-216 - Abstract
Scrub typhus is an established cause of acute encephalitis syndrome (AES) in northern states of India. We systematically investigated 376 children with AES in southern India, using a stepwise diagnostic strategy for the causative agent of scrub typhus, Orientia tsutsugamushi, including IgM and PCR testing of blood and cerebrospinal fluid (CSF) to grade its association with AES. We diagnosed scrub typhus in 87 (23%) children; of those, association with AES was confirmed in 16 (18%) cases, probable in 55 (63%), and possible in 16 (18%). IgM detection in CSF had a sensitivity of 93% and specificity of 82% compared with PCR. Our findings suggest scrub typhus as an emerging common treatable cause of AES in children in southern India and highlight the importance of routine testing for scrub typhus in diagnostic algorithms. Our results also suggest the potential promise of IgM screening of CSF for diagnosis of AES resulting from scrub typhus.
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- 2023
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16. Use of Plasma Pseudocholinesterase as a Predictor of Mortality in Organophosphate Poisoning
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Kumar V., Siva, primary, K. Siva Kumar, Shruthi, additional, Debata, Ipsita, additional, J., Tejas, additional, and K. Gowda, Viswanathan, additional
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- 2023
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17. Identification of microplastics from urban informal solid waste landfill soil; MP associations with COD and chloride
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S. Mahesh, Nisarga K. Gowda, and Sahana Mahesh
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cod and chloride associations with mps ,eds ,landfill ,ldpe ,microplastics ,sem ,Environmental technology. Sanitary engineering ,TD1-1066 - Abstract
Microplastics (MPs) are an issue of prime environmental concern globally. The abundance of MP particles in the informal open solid waste landfill soil was evaluated showing 180–1120 MP particles per kg of soil. Moisture content (MC), electrical conductivity (EC) and pH of the MP-contaminated soil compared to the baseline showed 2.96% MC, 187–441 μS/cm EC and 6.94 pH. Morphology of extracted MPs in SEM showed particle fragmentation as film fragments (13.7%), fragments (56.1%), fibres (26.4%) and foam (3.8%). EDS results showed Carbon 71.8% and 24.5% oxygen with traces of Na, Al, Si and Cl−. FTIR of field obtained MPs identified were polyethylene and polypropylene. The association of MP particles with COD and chloride was discovered. MP particles of Low-density Polyethylene of size of 1 mm × 1 mm and thickness 25 μm up to 20 numbers showed no effect adding to the COD values. The COD values increased with increase in MP particle numbers. Similarly, chloride associations with MP particles showed an increase in MP particles reducing chloride values by 31% in landfill runoff water. It is interpreted that MP particle disintegration into nano-sized plastics (NPs) in the soil/runoff water can greatly increase the COD values and impair the salt mass balance. HIGHLIGHTS Municipal urban informal landfill soil was evaluated for abundance of MP particles.; The associated environmental parameters like pH, EC, TDS were evaluated.; SEM, EDS, FT-IR were used to understand the analytics and morphology of the extracted MPs.; MP associations with COD and chloride are established for the first time.;
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- 2023
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18. MiSeRTrace: Kernel-level Request Tracing for Microservice Visibility.
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Thrivikraman V, Vishnu R. Dixit, Nikhil Ram S, Vikas K. Gowda, Santhosh Kumar Vasudevan, and Subramaniam Kalambur
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- 2022
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19. Mitochondrial complex I deficiency masquerading as stroke-like episode clinically and as alexander disease radiologically following chicken pox
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Vykuntaraju K Gowda, Arun Y Bylappa, Uddhav Kinhal, Varunvenkat M Srinivasan, and Dhananjaya K Vamyanmane
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alexander disease ,india ,mitochondrial disorder ,ndufs8 gene ,stroke-like episodes ,Neurology. Diseases of the nervous system ,RC346-429 - Abstract
Mitochondrial disorders are a group of metabolic disorders with variable presentation and usually affect organs with high energy requirements like the brain, eye, and heart. Seventeen-month-old girl child presented with right hemiparesis and regression of milestones following chicken pox. Investigations showed elevated lactate, white matter signal changes in both periventricular and subcortical white matter with frontal predominance in the MRI of the brain, cardiomyopathy in the echocardiography, with complex I deficiency in respiratory enzyme assay in the muscle biopsy. A homozygous missense variant c.304C>T (p. Arg102Cys) in exon 5 of NDUFS8 gene (chr11:67800682C>T; NM_002496.4) was detected on whole exome sequencing with positive parental Sanger for the same gene. The child was started on a mitochondrial cocktail, ramipril, and frusemide. Mitochondrial complex deficiency should be considered in cases with stroke-like episodes, and predominant white matter involvement on imaging mimicking classical genetic leukodystrophy like Alexander disease.
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- 2023
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20. CERT1 mutations perturb human development by disrupting sphingolipid homeostasis
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Charlotte Gehin, Museer A. Lone, Winston Lee, Laura Capolupo, Sylvia Ho, Adekemi M. Adeyemi, Erica H. Gerkes, Alexander P.A. Stegmann, Estrella López-Martín, Eva Bermejo-Sánchez, Beatriz Martínez-Delgado, Christiane Zweier, Cornelia Kraus, Bernt Popp, Vincent Strehlow, Daniel Gräfe, Ina Knerr, Eppie R. Jones, Stefano Zamuner, Luciano A. Abriata, Vidya Kunnathully, Brandon E. Moeller, Anthony Vocat, Samuel Rommelaere, Jean-Philippe Bocquete, Evelyne Ruchti, Greta Limoni, Marine Van Campenhoudt, Samuel Bourgeat, Petra Henklein, Christian Gilissen, Bregje W. van Bon, Rolph Pfundt, Marjolein H. Willemsen, Jolanda H. Schieving, Emanuela Leonardi, Fiorenza Soli, Alessandra Murgia, Hui Guo, Qiumeng Zhang, Kun Xia, Christina R. Fagerberg, Christoph P. Beier, Martin J. Larsen, Irene Valenzuela, Paula Fernández-Álvarez, Shiyi Xiong, Robert Śmigiel, Vanesa López-González, Lluís Armengol, Manuela Morleo, Angelo Selicorni, Annalaura Torella, Moira Blyth, Nicola S. Cooper, Valerie Wilson, Renske Oegema, Yvan Herenger, Aurore Garde, Ange-Line Bruel, Frederic Tran Mau-Them, Alexis B.R. Maddocks, Jennifer M. Bain, Musadiq A. Bhat, Gregory Costain, Peter Kannu, Ashish Marwaha, Neena L. Champaigne, Michael J. Friez, Ellen B. Richardson, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Yask Gupta, Tze Y. Lim, Simone Sanna-Cherchi, Bruno Lemaitre, Toshiyuki Yamaji, Kentaro Hanada, John E. Burke, Ana Marjia Jakšić, Brian D. McCabe, Paolo De Los Rios, Thorsten Hornemann, Giovanni D’Angelo, and Vincenzo A. Gennarino
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Cell biology ,Genetics ,Medicine - Abstract
Neural differentiation, synaptic transmission, and action potential propagation depend on membrane sphingolipids, whose metabolism is tightly regulated. Mutations in the ceramide transporter CERT (CERT1), which is involved in sphingolipid biosynthesis, are associated with intellectual disability, but the pathogenic mechanism remains obscure. Here, we characterize 31 individuals with de novo missense variants in CERT1. Several variants fall into a previously uncharacterized dimeric helical domain that enables CERT homeostatic inactivation, without which sphingolipid production goes unchecked. The clinical severity reflects the degree to which CERT autoregulation is disrupted, and inhibiting CERT pharmacologically corrects morphological and motor abnormalities in a Drosophila model of the disease, which we call ceramide transporter (CerTra) syndrome. These findings uncover a central role for CERT autoregulation in the control of sphingolipid biosynthetic flux, provide unexpected insight into the structural organization of CERT, and suggest a possible therapeutic approach for patients with CerTra syndrome.
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- 2023
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21. Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature
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Jessica R.C. Priestley, Lisa M. Pace, Kuntal Sen, Anjali Aggarwal, Cesar Augusto P.F. Alves, Ian M. Campbell, Sanmati R. Cuddapah, Nicole M. Engelhardt, Marina Eskandar, Paloma C. Jolín García, Andrea Gropman, Ingo Helbig, Xinying Hong, Vykuntaraju K. Gowda, Laina Lusk, Pamela Trapane, Varunvenkat M. Srinivasan, Pim Suwannarat, and Rebecca D. Ganetzky
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Malate dehydrogenase ,MDH2 ,Mitochondrial malate dehydrogenase ,TCA cycle ,Epileptic encephalopathy ,Leigh syndrome ,Medicine (General) ,R5-920 ,Biology (General) ,QH301-705.5 - Abstract
Malate dehydrogenases (MDH) serve a critical role in maintaining equilibrium of the NAD+/NADH ratio between the mitochondria and cytosol through the catalysis of the oxidation of L-malate to oxaloacetate in a reversible, NADH-dependent manner. MDH2 encodes the mitochondrial isoform, which is integral to the tricarboxylic acid cycle and thus energy homeostasis. Recently, five patients harboring compound heterozygous MDH2 variants have been described, three with early-onset epileptic encephalopathy, one with a stroke-like episode, and one with dilated cardiomyopathy. Here, we describe an additional seven patients with biallelic variants in MDH2, the largest and most neurodevelopmentally and ethnically diverse cohort to-date, including homozygous variants, a sibling pair, non-European patients, and an adult. From these patients, we learn that MDH2 deficiency results in a biochemical signature including elevations of plasma lactate and the lactate:pyruvate ratio with urinary excretion of malate. It also results in a recognizable constellation of neuroimaging findings of anterior-predominant cerebral atrophy, subependymal cysts with ventricular septations. We also recognize MDH2 deficiency as a cause of Leigh syndrome. Taken with existing patient reports, we conclude that MDH2 deficiency is an emerging and likely under-recognized cause of infantile epileptic encephalopathy and provide a framework for medical evaluation of patients identified with biallelic MDH2 variants.
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- 2022
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22. Rare cause of west syndrome secondary to tubulinopathy due to Congenital Symmetric Circumferential Skin Creases (CSCSC) kunze type due to a novel variant in MAPRE2 gene
- Author
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Vykuntaraju K Gowda, Varunvenkat M Srinivasan, Varsha Reddy, and Maya Bhat
- Subjects
Neurology. Diseases of the nervous system ,RC346-429 - Published
- 2022
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23. Use of silicon mouth guard to prevent dental injury during laryngoscopy: Softening the blow
- Author
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Priya Thappa, Kirandeep Kaur, Punith K Gowda, and Amiya Kumar Barik
- Subjects
Anesthesiology ,RD78.3-87.3 - Published
- 2023
- Full Text
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24. Canavan Disease: Clinical and laboratory profile from Southern part of India
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Vykuntaraju K Gowda, Narmadham K Bharathi, Jamunashree Bettaiah, Maya Bhat, and Sanjay K Shivappa
- Subjects
aspartoacylase deficiency ,canavan disease ,naa ,spongiform leukodystrophy ,Neurology. Diseases of the nervous system ,RC346-429 - Abstract
Background: Canavan disease (CD) is an autosomal recessively inherited leukodystrophy. It affects one in 6,400 to 13,500 people in the Jewish population. However, prevalence and presentation of the disease in India is largely unknown; hence, we are reporting this series. Methods: This is a retrospective chart review in a tertiary care hospital from January 2015 to March 2020. CD was confirmed by elevated N- acetyl aspartate (NAA) levels in urinary gas chromatography and mass spectrometry (GCMS)/increased NAA peak in magnetic resonance spectroscopy (MRS) and/or detection of mutations. The data was extracted in a predesigned proforma and analyzed. Results: We had 12 children with mean age at presentation being 6.8 months (range 3 months to 10 months.). Males were more commonly affected (83.3%, n = 10). Ten children (83.3%) were born out of consanguineous parentage. All of them had visual impairment and pyramidal signs. Seizures were noted in five (42%) children. Normal head size in three (25%) and microcephaly in two (16.66%) cases were noted. Magnetic resonance imaging (MRI) revealed signal changes with bilateral symmetric T2W white matter (WM) hyperintensities in subcortical U fibers in all cases. MRS was done in ten children, all of which showed increased NAA peak. Increased level of NAA in urinary GCMS was noted in six out of eight children. Six cases had homozygous pathogenic variants in ASPA gene. Antenatal diagnosis helped in prevention of recurrence in three families. Conclusion: Urinary NAA and MRS showing NAA peak are useful in diagnosis of CD. Macrocephaly is not a necessary finding to diagnose CD. Early diagnosis helps in genetic counseling and prevention of subsequent conceptions.
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- 2021
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25. Biotinidase deficiency in the second decade with atypical neuroimaging findings
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Vykuntaraju K Gowda, Amit Avaragollapuravarga Mathada, Varunvenkat M Srinivasan, and Dhananjaya K Vamyanmane
- Subjects
biotin ,biotinidase deficiency ,btd gene variants ,enzyme activity ,neonatal screening ,Medicine ,Biology (General) ,QH301-705.5 - Abstract
Biotinidase deficiency is a rare autosomal recessive neurometabolic disorder resulting in biotin deficiency. Our patient presented with seizures and developmental delay since infancy and was started on megavitamin supplements. At 14 years, she presented with motor regression with encephalopathy after discontinuation of vitamins. There were no skin and hair changes. Magnetic resonance imaging (MRI) of the brain showed bilateral symmetrical posterior putamen signal changes. Tandem mass spectroscopy showed increased methyl malonyl carnitine and 3-OH isovaleryl carnitine. There was a low biotinidase level, and a pathogenic variant in the BTD gene in the next-generation sequencing was identified. Special importance is placed on the unusual symmetric posterior putamen involvement seen in MRI of the brain.
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- 2023
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26. Giant subcutaneous granuloma annulare
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M R Harish, B M Shashikumar, Priyanka R Magod, and Deepadarshan K Gowda
- Subjects
intralesional therapy ,rifampicin ,ofloxacin ,minocycline therapy ,subcutaneous granuloma annulare ,Dermatology ,RL1-803 - Abstract
Subcutaneous granuloma annulare is an uncommon, benign self-limiting cutaneous disease, almost exclusively seen in young children. We report a case of 31-year-old male patient, presented with asymptomatic firm plaques over the left lateral malleoli and dorsum of the feet. Histopathological examination was done to confirm the diagnosis and the lesions responded well to monthly doses of the combination of rifampicin, ofloxacin, minocycline (ROM) therapy and intralesional steroid therapy. This case is reported for its unusual presentation of very large plaque in an adult male and its resolution after combined ROM and intralesional steroid therapy.
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- 2021
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27. Krabbe Disease with normal enzyme assay with a pathogenic variant in GALC gene—A report of two Indian cases
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Vykuntaraju K Gowda, Varunvenkat M Srinivasan, Maya Bhat, and Sanjay K Shivappa
- Subjects
Neurology. Diseases of the nervous system ,RC346-429 - Published
- 2021
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28. Morphological and Molecular Characterization of Locally Developed and Imported Dicoccum Wheat (Triticum Dicoccum (Schrank.) Schubl.) Germplasm Lines for Bipolaris Sorokiniana, Spot Blotch Disease Resistance
- Author
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-, Abhishek. K. Gowda, primary, -, S. A. Desai, additional, -, Suma. S. Biradar, additional, -, I. K. Kalappanavar, additional, and -, Nehaa D. R, additional
- Published
- 2024
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29. IoT Based Baby Monitoring System using Smart Cradle
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null Prof. Malatesh Kamatar, null Prof. Indira, null Ms. Harika A, null Ms. Sahitya K Gowda, null Ms. Sanjana Patil GS, and null Mr. Shashank B Talawar
- Subjects
General Earth and Planetary Sciences ,General Environmental Science - Abstract
Nowadays current number of working mothers are increased. For that Parents are sending their children’s to the baby care houses they are worried about the secureness, health of the baby So we have proposed a smart Cradle with so many benefits to help a working mother. By this cradle with So many benefits to help working mother. By this cradle working mother can also monitor the babies activities. This cradle is connected to the parents mobile to monitor the babies activities. We have used a many of the sensors to Sense & send the intimation alert messages to the parent, mobile Suppose it the baby is crying then the cradle Start automatically swinging & plays melody songs. the until the baby a Stops Crying Sound Sensors are attached to the cradle by hearing the Sound of the baby the cradle Starts Swinging. we have used a sensor to check the heartbeat, room & baby temperature of the baby. Moisture sensor is used to check whether the baby's diaper is condition is wet. To avoid sending childerns to the baby care houses use this Smart cradle for more benefits & they helps the mother
- Published
- 2023
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30. FREQUENCY EVALUATION FOR MECHANICAL INTEGRATION OF SHROUDED HP ROTOR BLADES IN AN AIRCRAFT ENGINE COMPRESSOR
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VINAYAKA N., NILOTPAL BANERJEE, B. S. AJAY KUMAR, KUMAR K. GOWDA, and SURESH P. M.
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Blade vibrations ,Campbell diagram ,Frequency evaluation ,Mechanical integrity ,Shrouded compressor ,Engineering (General). Civil engineering (General) ,TA1-2040 ,Technology (General) ,T1-995 - Abstract
Frequency evaluation in rotary engine blade design is an important research area because of its critical applications in aircraft engines and land-based gas engines. A compressor blade plays an important role in increasing pressure and velocity of the fluid, which influences the efficiency of gas turbines. Due to peak centrifugal stresses, gas bending loads and vibratory stresses, flow-induced blade vibrations occur leading to blade catastrophe. The airfoil is expected to prove not only the mechanical efficiency but also mechanical integrity for a desired life. The present research focuses on the study of the vibrational behaviour of an Axial HP Shrouded Compressor blade for in-service conditions. A Computational Fluid Dynamics based model is generated with reference to NACA 65-series, to analyse the flow behaviour through a linear cascade of axial compressor blades, followed by mechanical integrity stress checks to take it further with root attachment design. The present work demonstrates the need for shrouds in compressor rotor blades for stiffening the blade to avoid resonance. The positioning of the shroud is a challenge across the blade height by achieving Frequency Separation Margins using Campbell Diagram, an industry best practice.
- Published
- 2018
31. Affective computing using speech processing for call centre applications.
- Author
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Rakshith K. Gowda, Vandana Nimbalker, R. Lavanya, S. Lalitha, and Shikha Tripathi
- Published
- 2017
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32. A rare case of deformity: Fibrodysplasia ossificans progressiva
- Author
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Vykuntaraju K. Gowda, Sandeep Rangaiah, Varunvenkat M. Srinivasan, and Dhananjaya Kotebagilu Narayana Vamyanmane
- Subjects
General Earth and Planetary Sciences ,General Environmental Science - Abstract
Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder and the most debilitating condition of heterotopic ossification in humans. Misdiagnosis is common and they suffer from complications of incorrect diagnosis and subsequent inappropriate treatment hence, to create awareness, we are reporting a genetically confirmed case of FOP. A 10-year-old boy, born to a non-consanguineously married couple, presented with progressive stiffness of the neck, back, and limbs with restriction of movements. Examination showed two firm non-tender immobile swellings over the back with scoliosis towards the left side. A bilateral hallux valgus deformity with restricted movements of the great toe was noted. Outside treated as mixed connective tissue disorder without any improvement. The X-ray showed calcifications in the swellings. Genetic testing showed the pathogenic variant in the activin A receptor type 1 gene. The FOP should be considered in children presenting with progressive stiffness, deformity of the feet, and ectopic ossifications to avoid misdiagnosis and inappropriate treatment.
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- 2023
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33. Juvenile Autoimmune Myasthenia Gravis due to Thymoma Following Coronavirus Disease 2019 Infection in a Child
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Usha Amirtham, KVN Dhananjaya, Vykuntaraju K Gowda, and Varsha Reddy
- Subjects
Applied Mathematics ,General Mathematics - Published
- 2023
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34. Childhood myocerebrohepatopathy spectrum disorder due to polymerase gamma pathogenic variant
- Author
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Vykuntaraju K Gowda, Varunvenkat M Srinivasan, and Sanjay K Shivappa
- Subjects
Neurology. Diseases of the nervous system ,RC346-429 - Published
- 2021
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35. Identification and removal of microplastics from contaminated semi-urban agricultural soil using electrochemical treatment technology
- Author
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Mahesh Shivaswamy, Nisarga K. Gowda, and Sahana Mahesh
- Subjects
General Chemical Engineering ,Materials Chemistry ,General Chemistry ,Biochemistry ,Industrial and Manufacturing Engineering - Published
- 2022
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36. Childhood movement disorders: Clinicoetiological pattern and long-term follow-up at tertiary care center from South India
- Author
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Navya N. Parameshwarappa, Vykuntaraju K. Gowda, and Sanjay K. Shivappa
- Subjects
General Neuroscience ,Neurology (clinical) - Abstract
Objectives: Movement disorders are common neurological problems. There is a considerable delay in the diagnosis of movement disorders which indirectly indicates their under-recognition. The studies regarding relative frequencies and their underlying etiology are limited. Describing and classifying them with a diagnosis helps in treating the condition. To study the clinical pattern of various movement disorders in children and to establish their etiology and outcome. Materials and Methods: This observational study was conducted in tertiary care hospital from January 2018 to June 2019. Children from 2 mo. to 18 years of age presenting with involuntary movements on the first Monday of every week were included in the study. History and clinical examination were carried out with a pre-designed proforma. A diagnostic workup was done, results were analyzed to find the common movement disorders and their etiology, and follow-up was analyzed for 3 years. Results: A total of 100 cases out of 158 with known etiology were included in the study of which 52% were females and 48% were males. The mean age at presentation was 3.15 years. The various movement disorders are dystonia-39(39%), choreoathetosis-29(29%), tremors-22(22%), gratification reaction-7(7%), and shuddering attacks-4(4%). Ballismus and myoclonus were found in 3(3%) children each. Tics, stereotypes, and hypokinesia were found in 2(2%) children each. A total of 113 movement disorders were found in 100 children. Etiologically, perinatal insult was the most common cause 27(27%), followed by metabolic/genetic/hereditary causes 25(25%). Infantile tremor syndrome due to Vitamin B12 deficiency-16/22(73%), was a major contributor in children with tremors. Rheumatic chorea was less in our study 5(5%). Out of the 100 study subjects, 72 cases were followed up. Out of which 26 children have completely recovered. Based on the modified Rankins score(MRS), 7 children belong to category I, 2 children belong to category II, 1 child to category III, 6 children to category IV, and 14 children to category V of MRS. A total of 16 children have died (MRS VI). Conclusion: Perinatal insult and Infantile tremor syndrome are more important and preventable causes. Rheumatic chorea is found to be less common. A significant number of children had more than one type of movement disorder, which warrants the need to look for varied types of movement disorders in the same child. Long-term follow-up shows complete recovery in one-fourth of children and the remaining surviving with disability.
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- 2022
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37. Pharmaceutico-Analytical study of Karaviradya taila
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Ashwini Benjarwad, Vinaykumar R Kadibagil, Govinda Sharma K, Priyanka Sanagala, Sangeeta B Kamatar, and Srusti K Gowda
- Subjects
General Computer Science - Abstract
Introduction: Sneha kalpana (oleaginous preparations) is commonly prescribed Ayurvedic dosage form and it is the preparation of various kinds of medicated oils and ghee. Karaviradya taila is medicated oil preparation used externally in the form of abhyanga (massage) for lomashatana (depilation). Objectives: To prepare and carry out the physico-chemical analysis of karaviradya taila. Materials and Methods: Karaviradya taila was prepared by general method of taila kalpana i.e ¼:1:4 and analytical study like organoleptic characters and physico- chemical parameters were carried out based on the references available in the laboratory guide for the analysis of Ayurveda and Siddha formulation. Results and Discussion: The total oil obtained was 85% and the loss was 15%. Organoleptic characters of karaviradya taila showed translucent green viscous liquid with alkaline odor, Physico- chemical parameters like pH, specific gravity, viscosity, total suspended solids, and refractive index were tested. The increased Saponification value of karaviradya taila indicates the rate of absorption, low acid value of karaviradya taila indicates less chance of decomposition of taila. Evaporation of moisture contents in karaviradya taila leads to the decrease in rancidity factors. Peroxide value and iodine value of karaviradya taila indicates the primary oxidation. Conclusion: Karaviradya taila is a sneha kalpana mainly indicated for loma shatana (depilation). Local applications is beneficial because they are quickly absorbable, protect the skin and promotes percutaneous absorption of incorporated drug. The results of pharmaceutical and analytical study of karaviradya taila can be considered as the preliminary standards for the preparation of karaviradya taila. Keywords: Lomashatana, Karaviradyataila, Bahirparimarjana chikitsa, Sneha kalpana, Depilation, Hair Removal.
- Published
- 2022
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38. Epidemiology of Congenital Rubella Syndrome (CRS) in India, 2016-18, based on data from sentinel surveillance.
- Author
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Manoj Murhekar, Sanjay Verma, Kuldeep Singh, Ashish Bavdekar, Naveen Benakappa, Sridhar Santhanam, Gajanan Sapkal, Rajlakshmi Viswanathan, Mini P Singh, Vijaya Lakshmi Nag, Sadanand Naik, Munivenkatappa Ashok, Asha Mary Abraham, Devika Shanmugasundaram, R Sabarinathan, Valsan Philip Verghese, Suji George, Ravinder Kaur Sachdeva, Jyoti Kolekar, S Manasa, Jagat Ram, Madhu Gupta, Manoj K Rohit, Praveen Kumar, Parul Chawla Gupta, R K Ratho, Sanjay Kumar Munjal, Urvashi Nehra, Daisy Khera, Neeraj Gupta, Nidhi Kaushal, Pratibha Singh, Ravisekhar Gadepalli, Neelam Vaid, Sandeep Kadam, Sanjay Shah, S Mahantesh, Vykuntaraju K Gowda, Pradeep Haldar, M K Aggarwal, and Nivedita Gupta
- Subjects
Arctic medicine. Tropical medicine ,RC955-962 ,Public aspects of medicine ,RA1-1270 - Abstract
BACKGROUND:Government of India is committed to eliminate measles and control rubella/congenital rubella syndrome (CRS) by 2020. In 2016, CRS surveillance was established in five sentinel sites. We analyzed surveillance data to describe the epidemiology of CRS in India. METHODOLOGY/PRINCIPAL FINDINGS:We used case definitions adapted from the WHO-recommended standards for CRS surveillance. Suspected patients underwent complete clinical examination including cardiovascular system, ophthalmic examination and assessment for hearing impairment. Sera were tested for presence of IgM and IgG antibodies against rubella. Of the 645 suspected CRS patients enrolled during two years, 137 (21.2%) were classified as laboratory confirmed CRS and 8 (1.2%) as congenital rubella infection. The median age of laboratory confirmed CRS infants was 3 months. Common clinical features among laboratory confirmed CRS patients included structural heart defects in 108 (78.8%), one or more eye signs (cataract, glaucoma, pigmentary retinopathy) in 82 (59.9%) and hearing impairment in 51. (38.6%) Thirty-three (24.1%) laboratory confirmed CRS patients died over a period of 2 years. Surveillance met the quality indicators in terms of adequacy of investigation, adequacy of sample collection for serological diagnosis as well as virological confirmation. CONCLUSIONS/SIGNIFICANCE:About one fifth suspected CRS patients were laboratory confirmed, indicating significance of rubella as a persistent public health problem in India. Continued surveillance will generate data to monitor the progress made by the rubella control program in the country.
- Published
- 2020
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39. Treatable cause of leukodystrophy: Galactosaemia
- Author
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Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Suman U. Shivalingaiah, and Maya Dattatrya Bhat
- Subjects
General Earth and Planetary Sciences ,General Environmental Science - Abstract
Galactosaemia is a group of autosomal recessive metabolic disorders characterised by increased blood levels of galactose. It is characterised by cataracts, organomegaly, sepsis and developmental delay. We are reporting a case of galactosaemia presenting as a neurodegenerative disease with a leukodystrophy-like presentation. An 11-month-old boy born to a second-degree consanguineously married couple presented with developmental delay, vomiting, lethargy and refusal of feeds. Examination showed normocephaly, cataract, hepatomegaly and spasticity in all limbs with exaggerated deep tendon reflexes. Magnetic resonance imaging (MRI) of the brain was suggestive of diffuse hyperintensities in periventricular, subcortical and deep white matter on T2WI. Plasma galactose levels were high (3784.0 u M/L) and the RBC Galactose 1-Phosphate uridylyltransferase (GALT) enzyme was low (T (p.Ser143Leu) in exon 5 of the GALT gene. For any child who presents with cataracts, hepatomegaly, developmental delay and leukodystrophy picture on an MRI of the brain, a treatable cause of galactosaemia should be considered.
- Published
- 2023
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40. When Guillain-Barre syndrome took a wrong path
- Author
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null Supriya K. Gowda, Prashanth S., and Savitha M. R.
- Subjects
General Engineering - Abstract
The pharyngeal cervical brachial (PCB) variant of Guillain-Barre-syndrome (GBS) is defined by rapidly progressive oropharyngeal and cervicobrachial weakness associated with areflexia in upper limbs. On nerve conduction study PCB represents a localized subtype of GBS characterized by axonal rather than demyelinating neuropathy. PCB is often misdiagnosed as brainstem stroke, myasthenia gravis or botulism. Herein we describe a case of symmetric descending type of acute flaccid paralysis with predominant upper limb involvement and also lower limb involvement diagnosed as a PCB- GBS overlap mainly based on nerve conduction study.
- Published
- 2023
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41. Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy
- Author
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Marieke M van der Knoop, Reza Maroofian, Yuko Fukata, Yvette van Ierland, Ehsan G Karimiani, Anna Elina Lehesjoki, Mikko Muona, Anders Paetau, Yuri Miyazaki, Yoko Hirano, Laila Selim, Marina de França, Rodrigo Ambrosio Fock, Christian Beetz, Claudia A L Ruivenkamp, Alison J Eaton, Francois D Morneau-Jacob, Lena Sagi-Dain, Lilach Shemer-Meiri, Amir Peleg, Jumana Haddad-Halloun, Daan J Kamphuis, Cacha M P C D Peeters-Scholte, Semra Hiz Kurul, Rita Horvath, Hanns Lochmüller, David Murphy, Stephan Waldmüller, Stephanie Spranger, David Overberg, Alison M Muir, Aboulfazl Rad, Barbara Vona, Firdous Abdulwahad, Sateesh Maddirevula, Inna S Povolotskaya, Victoria Y Voinova, Vykuntaraju K Gowda, Varunvenkat M Srinivasan, Fowzan S Alkuraya, Heather C Mefford, Majid Alfadhel, Tobias B Haack, Pasquale Striano, Mariasavina Severino, Masaki Fukata, Yvonne Hilhorst-Hofstee, Henry Houlden, Neurology, Clinical Genetics, Department of Medical and Clinical Genetics, University of Helsinki, Medicum, HUSLAB, and Department of Pathology
- Subjects
Brain Diseases ,Drug Resistant Epilepsy ,CYSTIC-FIBROSIS ,GENES ,LEUCINE-RICH ,3112 Neurosciences ,ADAM22 ,Intracellular Signaling Peptides and Proteins ,PROTEIN ,Nerve Tissue Proteins ,PHENOTYPE ,3124 Neurology and psychiatry ,refractory seizures ,ADAM Proteins ,Humans ,SEIZURES ,LGI1 ,LIMBIC ENCEPHALITIS ,Neurology (clinical) ,developmental and epileptic encephalopathy ,Atrophy ,Epilèpsia en els infants ,Disks Large Homolog 4 Protein - Abstract
Data de publicació electrònica: 04-04-2022 Pathogenic variants in A Disintegrin And Metalloproteinase (ADAM) 22, the postsynaptic cell membrane receptor for the glycoprotein leucine-rich repeat glioma-inactivated protein 1 (LGI1), have been recently associated with recessive developmental and epileptic encephalopathy. However, so far, only two affected individuals have been described and many features of this disorder are unknown. We refine the phenotype and report 19 additional individuals harboring compound heterozygous or homozygous inactivating ADAM22 variants, of whom 18 had clinical data available. Additionally, we provide follow-up data from two previously reported cases. All affected individuals exhibited infantile-onset, treatment-resistant epilepsy. Additional clinical features included moderate to profound global developmental delay/intellectual disability (20/20), hypotonia (12/20), delayed motor development (19/20). Brain MRI findings included cerebral atrophy (13/20), supported by post-mortem histological examination in patient-derived brain tissue, cerebellar vermis atrophy (5/20), and callosal hypoplasia (4/20). Functional studies in transfected cell lines confirmed the deleteriousness of all identified variants and indicated at least three distinct pathological mechanisms: defective cell membrane expression (1), impaired LGI1-binding (2), and/or impaired interaction with the postsynaptic density protein PSD-95 (3). We reveal novel clinical and molecular hallmarks of ADAM22 deficiency and provide knowledge that might inform clinical management and early diagnostics. Funding: most families were collected as part of the SYNaPS Study Group collaboration funded by the Wellcome Trust and strategic award (Synaptopathies) funding (WT093205 MA and WT104033AIA). This study was also supported by JSPS/MEXT KAKENHI (Grants 19H03331, 19K22439 and 21K19390 to Y.F., Grant 19K16269 to Y.M., and Grants 20H00459 and 20H04915 to M.F.) and Japan Agency for Medical Research and Development (21wm0525022h0001 to Y.F.); intramural funding (fortüne) from the University of Tübingen (Grant 2545-1-0) and the Ministry of Science, Research and Art Baden-Württemberg to B.V. P.S. contributed to this work within the framework of the DINOGMI Department of Excellence of MIUR 2018-2022 (legge 232 del 2016). T.B.H. was supported by the Deutsche Forschungsgemeinschaft (DFG, German Research Foundation) – 418081722, 433158657. I.S.P., V.Y.V. are supported by the Government Assignment of the Russian Ministry of Health (#121061500066-2). HL receives support from the Canadian Institutes of Health Research (Foundation Grant FDN-167281), the Canadian Institutes of Health Research and Muscular Dystrophy Canada (Network Catalyst Grant for NMD4C), the Canada Foundation for Innovation (CFI-JELF 38412), and the Canada Research Chairs program (Canada Research Chair in Neuromuscular Genomics and Health, 950-232279). S.H. is funded by TUBITAK (Turkish Scientific and Technological Research Council) Project number 216S771. R.H. is a Wellcome Trust Investigator (109915/Z/15/Z), who received support from the Medical Research Council (UK) (MR/N025431/1 and MR/V009346/1), the European Research Council (309548), the Newton Fund (UK/Turkey, MR/N027302/1), the Addenbrookes Charitable Trust (G100142), the Evelyn Trust, the Stoneygate Trust, the Lily Foundation and an MRC strategic award to establish an International Centre for Genomic Medicine in Neuromuscular Diseases (ICGNMD) MR/S005021/1. This research was supported by the NIHR Cambridge Biomedical Research Centre (BRC-1215-20014)
- Published
- 2022
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42. A Rare Genetic-Metabolic Cause of Epileptic Spasms: Dihydropyrimidine Dehydrogenase Deficiency
- Author
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Vykuntaraju K. Gowda and Varunvenkat M. Srinivasan
- Subjects
Pediatrics, Perinatology and Child Health - Published
- 2023
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43. Study on Effectiveness and Tolerability of Adjunctive Perampanel Treatment in Children with Refractory Epilepsy in a Tertiary Care Center
- Author
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Vykuntaraju K. Gowda, Jincy Thavalenga, and Raghunath C. Nanjundappa
- Subjects
Pediatrics, Perinatology and Child Health ,Neurology (clinical) - Abstract
Background Nearly 30% of patients with epilepsy are refractory to currently available antiseizure drugs (ASDs). Although the U.S. Food and Drug Administration approved perampanel (PER) for patients as young as 4 years, there are limited data on using PER in children. Objective The aim of this study was to determine the efficacy and tolerability of adjunctive PER treatment in children with refractory epilepsy (RE). Methodology This prospective intervention study was conducted in the tertiary care center, in Bengaluru, India from December 2020 to May 2022. PER was added after the failure of a minimum of two ASDs and patients with 6 months follow-up. Treatment response was classified as complete, partial, or none with ≥90, ≥50, and Results Our cohort consisted of 100 cases, a mean age of 9.3 ± 3.8 years and male:female ratio of 3:1. The predominant seizure type was generalized seizures (74%), and concomitant enzyme-inducing ASD use was noted in 27%. Structural etiology was noted in 57%. A total of 76% of participants responded to PER therapy (46% complete response and 30% partial response), while 23% showed no response and 1% discontinued the treatment. Adverse events were observed in 25% of participants (11/25 [44%] drowsiness/sedation, 10/25 [40%] behavioral problems, and 4 [16%] other side effects). Early PER add-on provided a statistically significant benefit over late PER add-on (p = 0.01). Response to PER did not differ significantly with the type of seizure and ASD used (p > 0.05). Conclusion Adjunctive PER therapy is safe and effective for treating children with RE. An early add-on of PER is more beneficial in controlling seizures than a late add-on.
- Published
- 2023
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44. Recurrent Familial Acute Necrotizing Encephalopathy of Childhood (ANEC)
- Author
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Vykuntaraju K. Gowda and Varunvenkat M. Srinivasan
- Subjects
Pediatrics, Perinatology and Child Health - Published
- 2023
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45. Aicardi-Goutieres Syndrome Type-1 without Intracranial Calcifications
- Author
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Vykuntaraju K. Gowda, Viveka-Santhosh Reddy, and Varunvenkat M. Srinivasan
- Subjects
Pediatrics, Perinatology and Child Health - Published
- 2023
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46. Lathosterolosis - A Rare Treatable Cause for Global Developmental Delay, Cataract, and Liver Dysfunction Masquerading as Galactosemia
- Author
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Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, and Uddhav Kinhal
- Subjects
Pediatrics, Perinatology and Child Health - Published
- 2023
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47. The Clinical, Laboratory, Etiological Profile and Outcome of Acute Necrotizing Encephalitis of Childhood (ANEC) in Tertiary Care Centre from Southern India
- Author
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Vykuntaraju K. Gowda, Basavakumar Channabasappa, Sanjay K. Shivappa, Basavaraja G. Veerappa, and Keshavamurthy Mysore Lakshmikantha
- Subjects
Pediatrics, Perinatology and Child Health ,Neurology (clinical) - Abstract
Acute necrotizing encephalitis of childhood (ANEC) is characterized by respiratory or gastrointestinal infection and high-grade fever accompanied by rapid alteration of consciousness and seizures. Diagnosis is based on clinical presentation and characteristic neuroimaging features. The aim of this study was to report the etiological, clinical, and radiological findings and therapeutic outcomes of ANEC. This is a retrospective chart review of children aged 1 month to 18 years diagnosed with ANEC, from January 2017 to May 2022 at a tertiary care center in Bangalore, India. Of 36 patients, 17 were males, with age ranging from 10 months to 15 years. Major presenting complaints were altered sensorium in 36 (100%), fever in 33 (91.6%), and seizures in 27 (75%). The etiologies included dengue and chikungunya in 2 (5.5%) cases, Japanese encephalitis, influenza, and RAN binding protein 2 (RANBP2) in 1 (2.7%) case each, and unknown in 29 (80.5%) cases. Common findings of the magnetic resonance imaging (MRI) of the brain were abnormal signals in thalami in 20/20 (100%) and in brainstem in 11/20 (55%). Computed tomography (CT) of the brain done in all 16 cases showed thalamic hypodensities. All patients received empiric antibiotics, antivirals, and intravenous methylprednisolone. The modified Rankin scale showed excellent outcomes in 19/25 (76%), 3 were bedridden (8.3%), and 3 died (8.3%). ANEC is common in children under 5 years of age (76.7%). Altered sensorium, fever, and seizures were the main presenting symptoms. Genetic testing must be done in case of family history and recurrence. CT brain is also very useful in an emergency setup; MRI brain can be useful to suspect and prognosticate.
- Published
- 2023
- Full Text
- View/download PDF
48. Pelizaeus-Merzbacher disease-like disorder in an Indian girl with a missense variant in GJC2 gene
- Author
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Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Jitender Saini, and Maya Dattatrya Bhat
- Subjects
General Earth and Planetary Sciences ,General Environmental Science - Abstract
Pelizaeus-Merzbacher-like disease 1 (PMLD1) is a slowly progressive leukodystrophy that typically presents during the neonatal or early infantile period with nystagmus, commonly associated with hypotonia, delayed acquisition of motor milestones, speech delay and dysarthria. We present a 7-year-old female born to a nonconsanguineous marriage with developmental delay. On examination, she had 22 teeth, and nystagmus with pseudophakia. Neurological examination showed spasticity with increased deep tendon reflexes. On investigation, MRI of the brain done at 3 years showed hypomyelination. Targeted exome sequencing revealed a homozygous non-synonymous variation c.138C>G in exon 2 of the GJC2 gene. Sanger sequencing was done which showed the presence of a variant in the heterozygous state in both parents. PMLD1 should be suspected in any child presenting with diffuse hypomyelination with abnormal eye movements, especially in a girl child with PelizaeusMerzbacher disease phenotype with hypomyelination in the pons.
- Published
- 2022
- Full Text
- View/download PDF
49. Profile of Neurological Manifestations in Children Presenting With Rickettsial Disease
- Author
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S. B. Chiranth, K. R. Ashwini, Vykuntraju K. Gowda, K. S. Sanjay, Maaz Ahmed, and G. V. Basavaraja
- Subjects
Pediatrics, Perinatology and Child Health - Published
- 2022
- Full Text
- View/download PDF
50. Chromoblastomycosis associated with bone and central nervous involvement system in an immunocompetent child caused by exophiala spinifera
- Author
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Sahana M Srinivas, Vykuntaraju K Gowda, S Mahantesh, Rajeshwari Mannapur, and Sanjay K Shivappa
- Subjects
Chromoblastomycosis ,Exophiala spinifera ,fungal granuloma ,fungal osteomyelitis ,voriconazole ,Dermatology ,RL1-803 - Abstract
Chromoblastomycosis is a chronic granulomatous infection of the skin and subcutaneous tissue caused by specific group of dematiaceous fungi. The infection results from traumatic injury and is seen more commonly on feet and lower legs. It is rarely seen in children and metastatic spread to other systems is exceptionally rare. We report a 12-year-old immunocompetent male child diagnosed with chromoblastomycosis on the lower leg, who in a span of few months developed osteomyelitis and left hemiparesis. Fungal culture showed growth of Exophiala spinifera. Child showed good improvement with voriconazole and itraconazole after 1 year of treatment. Skin lesions healed with minimal scarring and his power improved.
- Published
- 2016
- Full Text
- View/download PDF
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