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13 results on '"Srivastava, Kosha"'

2. Childhood-Onset Myopathy With Preserved Ambulation Caused by a Recurrent ADSSL1 Missense Variant

Author

Baskar, Dipti, primary, Polavarapu, Kiran, additional, Preethish-Kumar, Veeramani, additional, Vengalil, Seena, additional, Nashi, Saraswati, additional, Töpf, Ana, additional, Thomas, Aneesha, additional, Sanka, Sai Bhargava, additional, Menon, Deepak, additional, Srivastava, Kosha, additional, Arunachal, Gautham, additional, Nandeesh, Bevinahalli N., additional, Lochmüller, Hanns, additional, and Nalini, Atchayaram, additional

Published
2024
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3. Neuromuscular disease genetics in under-represented populations: increasing data diversity

Author

Wilson, Lindsay A, primary, Macken, William L, additional, Perry, Luke D, additional, Record, Christopher J, additional, Schon, Katherine R, additional, Frezatti, Rodrigo S S, additional, Raga, Sharika, additional, Naidu, Kireshnee, additional, Köken, Özlem Yayıcı, additional, Polat, Ipek, additional, Kapapa, Musambo M, additional, Dominik, Natalia, additional, Efthymiou, Stephanie, additional, Morsy, Heba, additional, Nel, Melissa, additional, Fassad, Mahmoud R, additional, Gao, Fei, additional, Patel, Krutik, additional, Schoonen, Maryke, additional, Bisschoff, Michelle, additional, Vorster, Armand, additional, Jonvik, Hallgeir, additional, Human, Ronel, additional, Lubbe, Elsa, additional, Nonyane, Malebo, additional, Vengalil, Seena, additional, Nashi, Saraswati, additional, Srivastava, Kosha, additional, Lemmers, Richard J L F, additional, Reyaz, Alisha, additional, Mishra, Rinkle, additional, Töpf, Ana, additional, Trainor, Christina I, additional, Steyn, Elizabeth C, additional, Mahungu, Amokelani C, additional, van der Vliet, Patrick J, additional, Ceylan, Ahmet Cevdet, additional, Hiz, A Semra, additional, Çavdarlı, Büşranur, additional, Semerci Gündüz, C Nur, additional, Ceylan, Gülay Güleç, additional, Nagappa, Madhu, additional, Tallapaka, Karthik B, additional, Govindaraj, Periyasamy, additional, van der Maarel, Silvère M, additional, Narayanappa, Gayathri, additional, Nandeesh, Bevinahalli N, additional, Wa Somwe, Somwe, additional, Bearden, David R, additional, Kvalsund, Michelle P, additional, Ramdharry, Gita M, additional, Oktay, Yavuz, additional, Yiş, Uluç, additional, Topaloğlu, Haluk, additional, Sarkozy, Anna, additional, Bugiardini, Enrico, additional, Henning, Franclo, additional, Wilmshurst, Jo M, additional, Heckmann, Jeannine M, additional, McFarland, Robert, additional, Taylor, Robert W, additional, Smuts, Izelle, additional, van der Westhuizen, Francois H, additional, Sobreira, Claudia Ferreira da Rosa, additional, Tomaselli, Pedro J, additional, Marques, Wilson, additional, Bhatia, Rohit, additional, Dalal, Ashwin, additional, Srivastava, M V Padma, additional, Yareeda, Sireesha, additional, Nalini, Atchayaram, additional, Vishnu, Venugopalan Y, additional, Thangaraj, Kumarasamy, additional, Straub, Volker, additional, Horvath, Rita, additional, Chinnery, Patrick F, additional, Pitceathly, Robert D S, additional, Muntoni, Francesco, additional, Houlden, Henry, additional, Vandrovcova, Jana, additional, Reilly, Mary M, additional, and Hanna, Michael G, additional

Published
2023
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4. MYH2-related Myopathy: Expanding the Clinical Spectrum of Chronic Progressive External Ophthalmoplegia (CPEO)

Author

Baskar, Dipti, primary, Vengalil, Seena, additional, Nashi, Saraswati, additional, Bardhan, Mainak, additional, Srivastava, Kosha, additional, Sanka, Sai Bhargava, additional, Polavarapu, Kiran, additional, Menon, Deepak, additional, Preethish-Kumar, Veeramani, additional, Padmanabha, Hansashree, additional, Arunachal, Gautham, additional, and Nalini, Atchayaram, additional

Published
2023
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9. Role of Gut Microbiota Dysbiosis in Breast Cancer and Novel Approaches in Prevention, Diagnosis, and Treatment

Author

Ruo, Sheila W, primary, Alkayyali, Tasnim, additional, Win, Myat, additional, Tara, Anjli, additional, Joseph, Christine, additional, Kannan, Amudhan, additional, Srivastava, Kosha, additional, Ochuba, Olive, additional, Sandhu, Jasmine K, additional, Went, Terry R, additional, Sultan, Waleed, additional, Kantamaneni, Ketan, additional, and Poudel, Sujan, additional

Published
2021
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10. Endoscopic Surveillance in Idiopathic Achalasia

Author

Ochuba, Olive, primary, Ruo, Sheila W, additional, Alkayyali, Tasnim, additional, Sandhu, Jasmine K, additional, Waqar, Ahsan, additional, Jain, Ashish, additional, Joseph, Christine, additional, Srivastava, Kosha, additional, and Poudel, Sujan, additional

Published
2021
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12. MICU1 related myopathy – a rare report from India

Author

Baskar, Dipti, Ganji, Suma Reddy, Thomas, Aneesha, Polavarapu, Kiran, Nandeesh, Bevinahalli N., Sanka, Sai Bhargava, Srivastava, Kosha, Kotambail, Ananthapadmanabha, Arunachal, Gautham, Boddu, Vijay Kumar, Nashi, Saraswati, Nalini, Atchayaram, and Vengalil, Seena

Abstract

Mitochondrial Calcium Uptake 1 (MICU1) is an important component of mitochondrial calcium channel regulator. Mutations in MICU1result in a rare syndrome of myopathy with extrapyramidal features. Here we report a rare case of MICU1related myopathy from India. A 23 years old male presented with 10 years history of proximal muscle weakness with exertional myalgia and fatigue. Examination showed facial dysmorphism with facial weakness and mildly reduced visual acuity. Limb girdle pattern of weakness with hypoactive tendon reflexes were noted without extrapyramidal signs. He had elevated serum creatine level of 1542 IU/L. Muscle MRI had novel findings of selective fatty infiltration of hamstrings, medial gastrocnemius and soleus. Muscle biopsy showed myopathic with secondary neurogenic changes along with few COX deficient fibres. Genetic analysis showed compound heterozygous pathogenic variants in MICU1gene at intron 9 (c.1072-1 G > C) – splice site variant and exon 5 (c.513T > A) – stop gained variant, both resulting in loss of function of the protein. The variants were segregating in unaffected parents in heterozygous state with variant c.1072-1 G > C in the unaffected father and variant c.513T > A (p. Tyr171*) in the unaffected mother confirming the diagnosis. This report highlights the phenotype of limb girdle weakness with facial dysmorphism and optic atrophy expanding the spectrum of MICU1 related syndrome with novel MRI muscle and histopathological findings.

Published
2024
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13. Cognitive and Behavioral Profile of Patients with Amyotrophic Lateral Sclerosis Spectrum in the Indian Context.

Author

Srivastava K, Arshad F, Mujawar WJ, Cranberg L, Rajeshwaran J, Afsar M, Thanissery N, Desai V, Keerthana BS, Shubhangi B, Vengalil S, Nashi S, Baskar D, Polavarapu K, Preethish-Kumar V, Alladi S, and Nalini A

Subjects
Humans, Male, Female, Middle Aged, India epidemiology, Aged, Cognition physiology, Adult, Executive Function, Case-Control Studies, Amyotrophic Lateral Sclerosis psychology, Amyotrophic Lateral Sclerosis complications, Frontotemporal Dementia psychology, Neuropsychological Tests, Cognitive Dysfunction psychology
Abstract

Introduction: Amyotrophic lateral sclerosis (ALS) is characterized by motor, cognitive, and behavioral impairment. There is a paucity of evidence about the cognitive/behavioral features of ALS patients from India. We aimed to investigate the cognitive/behavioral profile of ALS spectrum disorders in the Indian context., Methods: Sixty patients with ALS spectrum and 40 age-, gender-, and education-matched healthy controls were recruited. The scales used were Addenbrooke's Cognitive Examination (ACE-III), Clinical Dementia Rating (CDR) scale, and Frontal Systems Behavior (FrSBe) Scale., Results: The mean age of the overall cohort was 55 years, and male-to-female ratio was 2.5:1. The mean duration of illness of the cohort was 16 months. Patients were classified as ALS with normal cognition (ALS-cn, n = 21), mild cognitive or behavioral deficits (ALS-ci/-bi, n = 28), and frontotemporal dementia (ALS-FTD, n = 11). ALS-cn had poorer scores compared to healthy controls in global cognition, memory, and language (p < 0.05). ALS-ci/-bi performed poorer than healthy controls on all cognitive domains (p < 0.05). ALS-FTD had poorer scores than healthy controls and ALS-cn on all cognitive domains (p < 0.001). Behavioral assessment showed an increase in apathy among all subtypes. ALS-FTD showed significant worsening in disinhibition and executive function compared to ALS-cn and ALS-ci/-bi., Conclusion: Our findings suggest that there are key cognitive and behavior characteristics in Indian patients with ALS spectrum. This further strengthens the evidence of a cognitive continuum in ALS and FTD in a diverse context and highlights the importance of meticulous evaluation and correct diagnosis that would assist in better management., (© 2024 S. Karger AG, Basel.)

Published
2024
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