35 results on '"Garg, Ajay"'
Search Results
2. Cerebrospinal fluid proteins in idiopathic intracranial hypertension: An exploratory SWATH proteomics analysis.
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Pandit, Awadh Kishor, Misra, Shubham, Sengupta, Shantanu, Chakraborty, Rahul, Singh, Praveen, Singh, Gyaninder Pal, Phuljhele, Swati, Srivastava, Achal K., Vibha, Deepti, Garg, Ajay, Shankar, Vivek, Mohania, Dheeraj, Shukla, Garima, and Prasad, Kameshwar
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- 2024
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3. THAP1 Associated Dystonia: An NBIA Mimic.
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Agarwal, Ayush, Garg, Divyani, Rajan, Roopa, Garg, Ajay, and Srivastava, Achal Kumar
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DYSTONIA ,MAGNETIC resonance imaging ,IRON ,GENETIC testing - Abstract
This article discusses a case study of a 12-year-old boy with THAP1-associated dystonia, a condition that mimics neurodegeneration with brain iron accumulation (NBIA). The boy presented with childhood onset, generalized dystonia that progressively worsened over time. Neurological examination revealed dystonia involving various body regions, along with bradykinesia and rigidity. Magnetic resonance imaging (MRI) showed hypointensity in the bilateral globus pallidi, a finding typically associated with NBIA. However, genetic testing revealed a pathogenic mutation in the THAP1 gene, confirming the diagnosis of DYT6 dystonia. Treatment with levodopa and other medications resulted in mild improvement. This case adds to the evidence that DYT-THAP1 should be considered as a mimic of NBIA. [Extracted from the article]
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- 2023
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4. "Ear of the Lynx" Sign in Hereditary Spastic Paraparesis (HSP) 76.
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Agarwal, Ayush, Oinam, Rahul, Goel, Vinay, Sharma, Pooja, Faruq, Mohd., Garg, Ajay, and Srivastava, Achal K.
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FAMILIAL spastic paraplegia ,LYNX ,PARAPARESIS ,PYRAMIDAL tract ,EAR ,CORPUS callosum - Abstract
Background: Hereditary Spastic Paraparesis (HSP) are a group of genetically inherited disorders, clinically and genetically heterogenous and characterized by degeneration of corticospinal tracts, manifesting with progressive spasticity and lower limbs weakness. Most HSPs have an autosomal dominant inheritance. "Ear of the Lynx" sign describes the characteristic abnormality in the forceps minor region of the corpus callosum (CC) on MRI brain. These bear a striking resemblance to the ears of a lynx. This finding has previously been described with hereditary spastic paraparesis 11 and 15, both of which are autosomal recessive HSPs. Cases: We describe this finding in two siblings with novel mutations causing HSP76, an extremely rare autosomal recessive HSP (less than 50 cases described worldwide), which has not been reported previously. Conclusion: This sign suggests the presence of pathogenic genetic mutations and is likely indicative of autosomal recessive HSPs. [ABSTRACT FROM AUTHOR]
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- 2023
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5. Salt and Pepper Appearance of Brain‐Stem and Cerebellum in Anti‐Zic4 Associated Neurological Disorder.
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Alam, Ashfak, Das, Animesh, Garg, Ajay, Radhakrishnan, Divya M., Agarwal, Ayush, Pandit, Awadh Kishor, and Srivastava, Achal Kumar
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NEUROLOGICAL disorders ,PARANEOPLASTIC syndromes ,CEREBELLUM ,IMMUNOGLOBULIN light chains ,INFORMED consent (Medical law) - Abstract
Keywords: anti-Zic4; ataxia; magnetic resonance imaging EN anti-Zic4 ataxia magnetic resonance imaging 1128 1131 4 11/07/22 20221101 NES 221101 Imaging characteristics of paraneoplastic neurological syndromes frequently mimic common pathologies like infections or demyelinating disorders (primary/secondary). A combination of these MRI findings can be a marker for anti-Zic4 associated neurological disorder. Salt and Pepper Appearance of Brain-Stem and Cerebellum in Anti-Zic4 Associated Neurological Disorder. [Extracted from the article]
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- 2022
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6. PSP‐Like Phenotype in Genetically Confirmed SCA12.
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Chatterpal, Pinky, Radhakrishnan, Divya M., Garg, Ajay, Tripathi, Madhavi, Rajan, Roopa, Agarwal, Ayush, Pandit, Awadh K., and Srivastava, Achal K.
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SPINOCEREBELLAR ataxia ,COMPUTED tomography ,PHENOTYPES ,PROGRESSIVE supranuclear palsy - Abstract
PSP-Like Phenotype in Genetically Confirmed SCA12 Keywords: SCA12; PSP; atypical parkinsonism; DaTSCAN EN SCA12 PSP atypical parkinsonism DaTSCAN 326 328 3 02/23/23 20230201 NES 230201 Spinocerebellar ataxia type 12 (SCA12) is an autosomal dominant cerebellar ataxia caused by CAG repeat expansions in the protein phosphatase 2 regulatory subunit B beta (PPP2R2B) gene in chromosome 5q.[1] The prevalence of SCA12 is high in Northern parts of India because of the common founder effect, and most of the affected families belong to the Agrawal community.[2] The commonest presenting symptom of SCA12 is the action tremors of upper limbs, which may precede the ataxia by many years.[[3]] Phenotypic spectrum of SCA12 also includes various non-ataxic manifestations, such as dystonia, parkinsonism, and cognitive impairment.[[1], [3]] Rarely, SCA12 can present as an "atypical atypical parkinsonism" and pose a diagnostic challenge.[5] A 61-year-old man from Punjab, India, presented with a history of progressive difficulty in walking, which worsened over the past 3 years with episodes of frequent falls. One should consider SCA12 in the differential diagnosis of atypical atypical parkinsonism with a PSP-like phenotype in a patient of ethnic origin where SCA12 is prevalent, even in the absence of family history. [Extracted from the article]
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- 2023
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7. A Novel Co‐existence of Spinocerebellar Ataxia 1 and Spinocerebellar Ataxia 2 Mutations in Indian Patients.
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Sharma, Pooja, Sonakar, Akhilesh K., Goel, Vinay, Garg, Ajay, Srivastava, Achal K., and Faruq, Mohammed
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SPINOCEREBELLAR ataxia ,CEREBELLUM degeneration ,DELAYED onset of disease ,PYRAMIDAL tract ,BRAIN stem ,GENETIC mutation - Abstract
Background: Spinocerebellar ataxia 1 (SCA1) and SCA2 are dominantly inherited ataxias caused due to CAG expansion mutation in ATXN1 (CAG≥39) and ATXN2 (CAG≥32) genes located at 6p22.3 and 12q24.12 loci, respectively, with key manifestations of progressive limb and gait ataxia and with or without brain stem and pyramidal tract involvement. Both SCA1 and SCA2 are quite prevalent subtypes among the SCAs. There are very few reports that describe a combinatorial SCA subtype mutation in a single patient. Cases: Here, we report a novel co‐occurrence of SCA1 and SCA2 mutations in two unrelated patients. Case‐1 was observed to carry ATXN1‐CAG (30/40) and ATXN2‐CAG (23/45), while case‐2 harbored ATXN1‐CAG (29/42) and ATXN2‐CAG (23/41). Overall, the clinical outcome was complex with probable early onset than expected in Case‐1 and in Case‐2, we observed a significant delayed onset of the disease than expected. Conclusion: These cases highlight the probabilistic interactive outcome of two unrelated genetic events towards a converging phenotype. [ABSTRACT FROM AUTHOR]
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- 2022
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8. Progressive multifocal leukoencephalopathy in a patient with systemic lupus erythematosus and autoimmune hepatitis.
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Gomathy, Saranya, Panigrahi, Baikuntha, Tirlangi, Praveen Kumar, Wig, Naveet, Brijwal, Megha, Sharma, Mehar C., Garg, Ajay, Tripathi, Manjari, Mohta, Srikant, Doddamani, Ramesh, Vibha, Deepti, Singh, Rajesh Kumar, Yadav, Rajni, Sahu, Saumya, Suri, Vaishali, Kaur, Kavneet, Tripathi, Madhavi, Rohatgi, Anshu, and Elavarasi, Arunmozhimaran
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PROGRESSIVE multifocal leukoencephalopathy ,SYSTEMIC lupus erythematosus ,AUTOIMMUNE hepatitis ,JOHN Cunningham virus ,BLOOD diseases ,HIV - Abstract
Progressive multifocal leukoencephalopathy (PML) is a rare demyelinating central nervous system illness encountered in the setting of immunosuppressive conditions like human immunodeficiency virus / acquired immunodeficiency syndrome, autoimmune diseases and hematologic malignancies. We had a 54‐year‐old woman with systemic lupus erythematosus and coexisting autoimmune hepatitis who presented with progressive cognitive decline, right hemiparesis and ataxia who was found to have PML. She had severe CD4 lymphopenia. She was managed with low‐dose prednisolone and plasma exchange after which she showed significant clinical improvement. This case highlights the diagnostic and therapeutic challenges encountered in managing a case of PML in the setting of autoimmune conditions with profound lymphopenia. [ABSTRACT FROM AUTHOR]
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- 2022
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9. Hemichorea in Rasmussen's Encephalitis—A Rare Case.
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Shaikh, Abu Tahir, Das, Animesh, Garg, Ajay, M Radhakrishnan, Divya, Pandit, Awadh Kishor, Agarwal, Ayush, and Srivastava, Achal Kumar
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MOVEMENT disorders ,ENCEPHALITIS ,INFORMED consent (Medical law) ,POSITRON emission tomography ,MAGNETIC resonance imaging ,SEIZURES (Medicine) - Abstract
Hemidystonia, unilateral limb choreoathetosis, unilateral limb tremor, faciobrachial dystonia, and myoclonus have been reported in the literature. Keywords: Rasmussen's encephalitis; Hemichorea; Movement disorder EN Rasmussen's encephalitis Hemichorea Movement disorder 542 545 4 05/13/22 20220501 NES 220501 Movement disorders in Rasmussen's encephalitis (RE) are rarely described. Hyperkinetic movement disorders except myoclonus3 have been rarely described in RE because the more predominant presentation of seizures overshadows subtle movement disorders; however, a thorough understanding of movement disorders in RE is important because these may be the only presentations of a patient with RE. [Extracted from the article]
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- 2022
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10. Ependymosarcoma harboring C11orf95:RELA fusion transcript: Report of two cases and review of the literature.
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Mahajan, Swati, Nambirajan, Aruna, Sharma, Agrima, Suri, Vaishali, Sardana, Hardik, Phalak, Manoj, Garg, Ajay, and Sharma, Mehar C.
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CENTRAL nervous system tumors ,SPINAL canal ,LITERATURE reviews ,NEUROLOGIC examination ,EPENDYMOMA - Abstract
Ependymoma is a relatively rare glial tumor of the central nervous system that arise from the cells lining the ventricles and central canal of the spinal cord. Ependymosarcoma (ES) is a newly introduced tumor entity of uncertain prognosis characterized by a rare phenomenon of a malignant mesenchymal transition arising within an ependymoma. ESs are surgically challenging tumors for diagnosis and therapy with a high incidence of morbidity and mortality. Here, we report two diagnostically challenging cases of primary ES in a 25‐year‐old female and a 17‐year‐old male. Both the cases presented with progressive and sequential neurological deficits over a period of five to eight months, and histological examination revealed a biphasic gliomesenchymal architecture comprised of anaplastic ependymomatous and sarcomatous components. Molecular genetic analysis revealed the presence of type 1 C11orf95:RELA fusion transcript. To date, 22 cases of ES have been reported in the literature, and only one case harbored type 1 C11orf95:RELA fusion transcript. [ABSTRACT FROM AUTHOR]
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- 2021
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11. Diagnostic added value of interictal magnetic source imaging in presurgical evaluation of persons with epilepsy: A prospective blinded study.
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Tripathi, Manjari, Kaur, Kirandeep, Ramanujam, Bhargavi, Viswanathan, Vibhin, Bharti, Kamal, Singh, Gaurav, Singh, Vivek, Garg, Ajay, Bal, Chandra Sekhar, Tripathi, Madhavi, Sharma, Mehar Chand, Pandey, Ravindra, Dash, Deepa, Mandal, Pravat, and Chandra, Poodipedi Sarat
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PEOPLE with epilepsy ,EPILEPSY surgery ,LONGITUDINAL method ,PEDIATRIC surgery ,SURGICAL excision ,DECISION making - Abstract
Background and purpose: In presurgical evaluation for epilepsy surgery, information is sourced from various imaging modalities to accurately localize the epileptogenic zone. Magnetoencephalography (MEG) is a newer noninvasive technique for localization. However, there is limited literature to evaluate if MEG provides additional advantage over the conventional imaging modalities in clinical decision making. The objective of this study was to assess the diagnostic added value of MEG in decision making before epilepsy surgery. Method: This was a prospective observational study. Patients underwent 3 h of recording in a MEG scanner, and the resulting localizations were compared with other complimentary investigations. Added value of MEG (considered separately from high‐density electroencephalography) was defined as the frequency of cases in which (i) the information provided by magnetic source imaging (MSI) avoided implantation of intracranial electrodes and the patient was directly cleared for surgery, and (ii) MSI indicated additional substrates for implantation of intracranial electrodes. Postoperative seizure freedom was used as the diagnostic reference by which to measure the localizing accuracy of MSI. Results: A total of 102 patients underwent epilepsy surgery. MEG provided nonredundant information, which contributed to deciding the course of surgery in 33% of the patients, and prevented intracranial recordings in 19%. A total of 76% of the patients underwent surgical resection in sublobes concordant with MSI localization, and the diagnostic odds ratio for good (Engel I) outcome in these patients was 2.3 (95% confidence interval 0.68, 7.86; p = 0.183) after long‐term follow‐up of 36 months. Conclusion: Magnetic source imaging yields additional useful information which can significantly alter as well as improve the surgical strategy for persons with epilepsy. [ABSTRACT FROM AUTHOR]
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- 2021
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12. Aseptic meningitis and myelitis as presenting features of SLE.
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Sharma, Archana, Vibha, Deepti, Singh, Rajesh Kumar, Elavarasi, Arunmozhimaran, Ramanujam, Bhargavi, Garg, Ajay, and Tripathi, Manjari
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SYSTEMIC lupus erythematosus ,MYELITIS ,MENINGITIS ,DIAGNOSIS ,RETENTION of urine ,ORGANS (Anatomy) - Abstract
Systemic lupus erythematosus (SLE) is an autoimmune disorder affecting multiple organs of body. We present a case having history of fever, headache, vomiting for 1 month, and quadriparesis with urinary retention and constipation for 5 days. MRI brain contrast showed T2/FLAIR hyperintensities in the region of bilateral cingulate gyri and midbrain with focal meningeal thickening in the region of falx and long segment myelitis in C2 to C7 with cord expansion. In view of atypical imaging findings, she was evaluated for autoimmune and inflammatory conditions besides infective causes and was diagnosed to have SLE. In our case, aseptic meningitis and myelitis were the presenting feature that led to the diagnosis of SLE. We should be aware of the uncommon association of aseptic meningitis and myelitis in SLE patients. [ABSTRACT FROM AUTHOR]
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- 2021
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13. Metastatic lesions of atrial myxoma. A pathologist can clinch them all.
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Rajeshwari, Madhu, Subramanian, Priyadarsani, Suri, Vaishali, Nambirajan, Aruna, Garg, Ajay, Vibha, Deepti, Phalak, Manoj, and Sharma, Mehar Chand
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MYXOMA ,INTRACRANIAL aneurysms ,PATHOLOGISTS ,CEREBRAL hemorrhage ,BENIGN tumors ,ANTERIOR cerebral artery - Abstract
Atrial myxomas are the most common primary benign cardiac tumors. The embolization of tumor particles is not infrequent, and in nearly half of them, the cerebral arteries are affected, usually leading to embolic ischemic stroke. Formation of intracranial aneurysms, development of parenchymal brain metastasis, and intracerebral hemorrhage due to ruptured aneurysms are rarer. Diagnosis of such lesions in a previously undiagnosed case of myxoma may be challenging for a pathologist. Herein, we present two patients of cardiac myxoma with varied neurological manifestations and their pathological findings. [ABSTRACT FROM AUTHOR]
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- 2020
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14. Is There a Difference in Autonomic Dysfunction Between Multiple System Atrophy Subtypes?
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Garg, Divyani, Srivastava, Achal Kumar, Jaryal, Ashok Kumar, Rajan, Roopa, Singh, Akanksha, Pandit, Awadh Kishor, Vibha, Deepti, Shukla, Garima, Garg, Ajay, Pandey, Ravindra Mohan, and Prasad, Kameshwar
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DYSAUTONOMIA ,MULTIPLE system atrophy ,PARKINSON'S disease ,MOVEMENT disorders ,BLOOD pressure ,HEART beat - Abstract
Background: Autonomic dysfunction forms the diagnostic cornerstone in MSA. Data are limited on autonomic dysfunction differences between the two subtypes, MSA‐C and MSA‐P. Objectives: To assess autonomic dysfunction in MSA subtypes and Parkinson's disease (PD) and compare it to healthy controls. Methods: We conducted a cross‐sectional study. A validated questionnaire (Scales for Outcomes in Parkinson's Disease–Autonomic Dysfunction; SCOPA‐AUT) was used for symptom screening. Cardiovascular autonomic testing included deep breathing (change in heart rate, E: I ratio), Valsalva ratio, diastolic blood pressure (BP) rise (hand grip, cold pressor), and postural (tilt, 30:15 ratio) tests. Disease severity was assessed by the Unified MSA Rating Scale (UMSARS), H & Y stage, and International Parkinson and Movement Disorder Society Unified Parkinson's Disease Rating scale part III. Results: MSA‐P (48 subjects; age, 63.6 ± 9.7 years; UMSARS, 45.0 ± 16.5), MSA‐C (52 subjects; age, 58.0 ± 8.1 years; UMSARS, 44.0 ± 12.8), PD (50 subjects; age, 57.6 ± 6.7 years), and healthy controls (50 subjects; age, 58.0 ± 8.0 years) were enrolled. MSA patients had higher SCOPA‐AUT scores in gastrointestinal, urinary, cardiovascular, and sexual domains than controls and in gastrointestinal, urinary, and cardiovascular domains compared to PD. The two MSA subtypes did not differ in autonomic dysfunction. Heart‐rate change on tilt and deep breathing, and diastolic BP rise on cold pressor test, differed significantly between MSA and PD patients. Conclusions: Autonomic dysfunction symptomatology and cardiovascular autonomic tests were similar between MSA‐P and MSA‐C patients. Autonomic symptoms were more prominent in MSA than PD. Emphasis on these domains may improve likelihood of accurate clinical diagnosis of MSA at earlier stages. [ABSTRACT FROM AUTHOR]
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- 2020
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15. Whole exome and targeted gene sequencing to detect pathogenic recessive variants in early onset cerebellar ataxia.
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Shakya, Sunil, Kumari, Renu, Suroliya, Varun, Tyagi, Nishu, Joshi, Aditi, Garg, Ajay, Singh, Inder, Kalikavil Puthanveedu, Divya, Cherian, Ajith, Mukerji, Mitali, Srivastava, Achal K., and Faruq, Mohammed
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CEREBELLAR ataxia ,EXOMES ,FRIEDREICH'S ataxia ,NUCLEOTIDE sequencing ,GENES - Abstract
Over 100 genetically distinct causal known loci for hereditary ataxia phenotype poses a challenge for diagnostic work‐up for ataxia patients in a clinically relevant time and precision. In the present study using next‐generation sequencing, we have investigated pathogenic variants in early‐onset cerebellar ataxia cases using whole exome sequencing in singleton/family‐designed and targeted gene‐panel sequencing. A total of 98 index patients were clinically and genetically (whole exome sequencing (WES) in 16 patients and targeted gene panel of 41 ataxia causing genes in 82 patients) evaluated. Four families underwent WES in family based design. Overall, we have identified 24 variants comprising 20 pathogenic and four likely‐pathogenic both rare/novel, variations in 21 early onset cerebellar ataxia patients. Among the identified variations, SACS (n = 7) and SETX (n = 6) were frequent, while ATM (n = 2), TTPA (n = 2) and other rare loci were observed. We have prioritized novel pathogenic variants in RARS2 and FA2H loci through family based design in two out of four families. [ABSTRACT FROM AUTHOR]
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- 2019
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16. Analysis of PD‐L1 expression and T cell infiltration in different molecular subgroups of diffuse midline gliomas.
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Jha, Prerana, Manjunath, Niveditha, Singh, Jyotsna, Mani, Kalaivani, Garg, Ajay, Kaur, Kavneet, Sharma, Mehar C., Raheja, Amol, Suri, Ashish, Sarkar, Chitra, and Suri, Vaishali
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PROGRAMMED cell death 1 receptors ,ISOCITRATE dehydrogenase ,LYMPHOCYTE count ,GENETIC markers ,INTELLECTUAL disabilities ,T cells ,TUMOR grading ,UNIVARIATE analysis - Abstract
Diffuse midline gliomas (DMGs) are rare and devastating tumors with limited therapeutic options. Programmed death‐ligand 1 (PD‐L1) expression represents a potential predictive biomarker for immunotherapy. One hundred and twenty‐six DMGs (89 adult and 37 pediatric) were assessed for immune profile (PD‐L1, cluster of differentiation (CD3, CD8) and genetic markers (mutation in 27th amino acid of histone H3 (H3K27M), alpha thalassemia/mental retardation syndrome X‐linked (ATRX), isocitrate dehydrogenase 1 (IDH1), p53) by immunohistochemistry. Sanger sequencing was done for IDH1 and H3K27M. The thalamus was the commonest site. Four molecular subgroups of DMGs were identified. H3K27M mutation was more frequent in children (P = 0.0001). The difference in median overall survival (OS) was not significant in any of the four molecular subgroups (P > 0.05). PD‐L1 expression was significantly higher in H3K27M/IDH1 double‐negative adult glioblastomas (GBMs) (P = 0.002). Strong PD‐L1 expression was more frequent in grade IV tumors and thalamic location, although the difference was not significant (P = 0.14 and P = 0.19 respectively). Positive PD‐L1 expression was significantly associated with high tumor‐infiltrating lymphocytes count (P < 0.05). There was no significant difference in median OS in PD‐L1‐positive versus negative cases among four genetic subgroups (P > 0.05). On univariate analysis, there was no direct correlation of PD‐L1 with any genetic alteration, except H3K27M mutation (P = 0.01). CD3 infiltration was similar in both adults and pediatric ages (84.3% and 78.4%, respectively) while CD8 expression was significantly greater in adults compared to children (74.1% vs 37.8%, P = 0.0001). This is the first comprehensive analysis highlighting molecular and immune profiles of DMGs. Despite molecular and clinicopathological diversity, overall survival in DMGs remains dismal. Multicentric studies with larger numbers of cases should be undertaken for stratifying DMGs according to their age, immune and molecular profiles, to develop effective immunotherapies. [ABSTRACT FROM AUTHOR]
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- 2019
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17. Cerebellar Ataxia in Adults with SQSTM1‐Associated Frontotemporal Dementia–Amyotrophic Lateral Sclerosis Spectrum of Disorders.
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Mishra, Biswamohan, Rajan, Roopa, Gupta, Anu, Faruq, Mohammed, Shamim, Uzma, Parveen, Shaista, Garg, Ajay, Tripathi, Madhavi, Vishnu, Venugopalan Y., Singh, Mamta Bhushan, Bhatia, Rohit, and Srivastava, Padma
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FRONTOTEMPORAL lobar degeneration ,AMYOTROPHIC lateral sclerosis ,CEREBELLAR ataxia ,MAGNETIC resonance imaging ,ADULTS ,OSTEITIS deformans - Abstract
Keywords: frontotemporal dementia; amyotrophic lateral sclerosis; SQSTM1; Sequestosome; p62 EN frontotemporal dementia amyotrophic lateral sclerosis SQSTM1 Sequestosome p62 800 802 3 07/21/21 20210701 NES 210701 A 43-year-old Asian Indian male presented with progressive gait difficulty for 3 years. Cerebellar Ataxia in Adults with SQSTM1-Associated Frontotemporal Dementia-Amyotrophic Lateral Sclerosis Spectrum of Disorders This is classified as a pathogenic variant associated with the phenotype of frontotemporal dementia (FTD)-ALS (OMIM*616437).1 This variant was also observed in his elder brother (currently asymptomatic) and younger sister (having bilateral lower limb hyperreflexia). [Extracted from the article]
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- 2021
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18. Dystonia and Myelopathy in a Case of Stress‐Induced Childhood‐Onset Neurodegeneration with Ataxia and Seizures (CONDSIAS).
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Mishra, Biswamohan, Fatima, Saman, Agarwal, Ayush, Radhakrishnan, Divya M., Garg, Ajay, and Srivastava, Achal K.
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SEIZURES (Medicine) ,POLYNEUROPATHIES ,SPINAL cord diseases ,ATAXIA ,DYSTONIA ,SPINOCEREBELLAR ataxia ,NEURODEGENERATION - Abstract
Dystonia and Myelopathy in a Case of Stress-Induced Childhood-Onset Neurodegeneration with Ataxia and Seizures (CONDSIAS) Keywords: CONDSIAS, LETM, ADPRHL2, quadriparesis, ataxia EN CONDSIAS, LETM, ADPRHL2, quadriparesis, ataxia 156 158 3 01/06/21 20210101 NES 210101 Stress-induced childhood-onset neurodegeneration with ataxia and seizures (CONDSIAS) is an extremely rare, autosomal recessive, neuro-degenerative disorder caused by inactivating mutations in Adenosine di-phosphate ribosylhydrolase 2 ( I ADPRHL2 i ) gene. She was being evaluated for childhood onset episodic ataxia and generalized dystonia syndromes when during her hospital stay, she developed acute onset symmetric quadriparesis with bulbar dysfunction, bladder and bowel involvement (onset to peak: 5 days). [Extracted from the article]
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- 2021
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19. Intrafamilial variable spastic paraplegia/ataxia/ALS phenotype linked to a novel KIF5A mutation.
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Faruq, Mohammed, Kumar, Deepak, Wadhwa, Saruchi, Shamim, Uzma, Mathur, Aradhana, Parveen, Shaista, Garg, Ajay, and Srivastava, Achal K.
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AMYOTROPHIC lateral sclerosis ,PARAPLEGIA ,PHENOTYPES ,FAMILIAL spastic paraplegia ,MOTOR neuron diseases ,CEREBELLAR ataxia - Abstract
Detailed examination of all the affected showed Proband having a phenotype of complicated HSP, III:6 (deceased) had MND and Ataxia; III:4 (deceased) had cerebellar ataxia and IV:1 has cerebellar ataxia phenotype. I KIF5A i , is a Kinseins family of protein that exert it chief function with cytoskeletal protein interaction, axonal transport of cellular organalles, that is, mitochondria, neurofilaments and other neuronally expressed important molecules (AMPA and GABA SB A sb receptors).[[2]] The phenotype of multiple affected in this family with a c.3023+3 A>T resembled both variable manifestations of complicated HSP phenotype and or cerebellar ataxia and motor neuron disease which later manifested with cerebellar ataxia phenotype. [Extracted from the article]
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- 2019
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20. Diffusion tensor imaging tractography study in bipolar disorder patients compared to first-degree relatives and healthy controls.
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Mahapatra, Ananya, Khandelwal, Sudhir K., Sharan, Pratap, Garg, Ajay, and Mishra, Nalini K.
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DIFFUSION tensor imaging ,BIPOLAR disorder ,DIFFUSION coefficients ,ANISOTROPY ,WHITE matter (Nerve tissue) - Abstract
Aim We aimed to compare white matter structural changes in specific tracts by diffusion tensor imaging (DTI) tractography in patients with bipolar disorder (BD) I, non-ill first-degree relatives (FDR) of the patients, and healthy controls (HC). Methods In a cross-sectional study, we studied right-handed subjects consisting of 16 euthymic BD I patients, 15 FDR, and 15 HC. The anterior thalamic radiation, uncinate fasciculus, corpus callosum, and cingulum bundle were reconstructed by DTI tractography. Mean fractional anisotropy (FA) and apparent diffusion coefficient (ADC) values were compared for group differences followed by post-hoc analysis. Results The three groups did not differ in terms of sociodemographic variables. There were significant group differences in the FA values among the BD I patients, their FDR, and the HC for the corpus callosum, the dorsal part of the right cingulum bundle, the hippocampal part of the cingulum bundle bilaterally, and the uncinate fasciculus ( P < 0.001). The FA values in the patients were significantly lower than in controls, and FDR also showed similar differences; however, they were smaller than those in patients. No significant difference was found between the groups for FA values of the dorsal part of the left cingulum bundle and anterior thalamic radiation. Significant differences were present for ADC values among the groups for the corpus callosum, the dorsal and hippocampal parts of the cingulum, anterior thalamic radiation, and uncinate fasciculus bilaterally ( P < 0.01). The FA and ADC values did not correlate significantly with age or any clinical variables. Conclusion These findings suggest that BD patients and their FDR show alterations in microstructural integrity of white matter tracts, compared to the healthy population. [ABSTRACT FROM AUTHOR]
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- 2017
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21. Neuroblastoma-like schwannoma of the skull base: an enigmatic peripheral nerve sheath tumor variant.
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Kaur, Kavneet, Kakkar, Aanchal, Binyaram, Suri, Vaishali, Garg, Ajay, Sharma, Suresh C, Sharma, Bhawani Shankar, Sarkar, Chitra, and Sharma, Mehar Chand
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SCHWANNOMAS ,NEUROBLASTOMA ,SKULL base ,PERIPHERAL nerve tumors ,DEAFNESS ,TUMOR diagnosis ,TUMORS - Abstract
Neuroblastoma-like schwannoma is an extremely rare histological variant of schwannoma, which histologically mimics a malignant small round cell tumor. Only 19 cases have been reported in the literature to date. We report a case of this tumor located at the skull base in a 44-year-old woman who presented with symptoms of right-sided earache and hearing loss. MRI revealed a large, lobulated, extra-axial mass measuring 8.8 cm × 3.6 cm × 4.2 cm in the floor of the middle and posterior cranial fossa. Microscopic examination revealed a perplexing histopathology with peculiar collagenous rosettes. Differential diagnoses included a broad range of benign and malignant tumors. Typical schwannoma seldom poses a difficulty in diagnosis; however, this unusual variant is a diagnostic challenge which requires an extensive clinico-radiological correlation and immunohistochemical work-up. Hence, knowledge of this entity is a must to avoid erroneous diagnosis and inappropriate treatment. [ABSTRACT FROM AUTHOR]
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- 2016
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22. Intracranial interhemispheric osteochondrolipoma: Diagnostic and surgical challenges in an extremely rare entity.
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Rajeshwari, Madhu, Suri, Vaishali, Kaur, Kavneet, Suri, Ashish, Garg, Ajay, Sharma, Mehar Chand, and Sarkar, Chitra
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AGENESIS of corpus callosum ,MICROSURGERY ,MEDICAL literature ,TISSUE wounds ,SURGERY - Abstract
Intracranial lipomas are rare developmental lesions, predominantly occurring in the interhemispheric location. Osteochondrolipoma is an extremely rare variant of lipoma with osseous and chondroid differentiation. We present a case of interhemispheric osteochondrolipoma, in a 2.5-years-old male child which was detected antenatally, in association with corpus callosum agenesis. The lesion progressively increased in size with resulting compression of surrounding structures, and was subjected to microsurgical decompression. To the best of our knowledge, this is the first case of intracranial interhemispheric osteochondrolipoma in the existing medical literature. Peculiarities of this case and the diagnostic and surgical challenges are discussed. [ABSTRACT FROM AUTHOR]
- Published
- 2016
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23. C11orf95-RELA fusion present in a primary intracranial extra-axial ependymoma: Report of a case with literature review.
- Author
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Nambirajan, Aruna, Malgulwar, Prit Benny, Sharma, Mehar C., Singh, Anutosh, Pathak, Pankaj, Satyarthee, Guru Dutta, and Garg, Ajay
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EPENDYMOMA ,GLIOMAS ,LITERATURE reviews ,MENINGIOMA ,HISTOGENESIS ,IMMUNOHISTOCHEMISTRY - Abstract
Ependymomas are gliomas that recapitulate the ependymal cells microscopically and ultrastructurally. They commonly occur along the ventricular surfaces and central canal of the brain and spinal cord. Intracranial extra-axial ependymoma (IEAE) is a rare entity and is commonly misdiagnosed clinically and radiologically as a meningioma. The histogenesis of such IEAEs is obscure. A novel recurrent oncogenic fusion involving the C11orf95 and RELA genes was recently described in supratentorial ependymomas. A 9-year-old girl presented with a dural based parafalcine mass that, in addition to exhibiting classical immunohistochemical features of an ependymoma, also demonstrated C11orf95-RELA fusion, characteristic of supratentorial ependymomas. We suggest that IEAEs share their histogenesis with their intra-axial counterparts, arising either from dural extension of subcortical, subependymal rests or directly from ectopic dural rests. [ABSTRACT FROM AUTHOR]
- Published
- 2016
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24. WNT-activated medulloblastoma with melanotic and myogenic differentiation: Report of a rare case.
- Author
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Rajeshwari, Madhu, Kakkar, Aanchal, Nalwa, Aasma, Suri, Vaishali, Sarkar, Chitra, Satyarthee, Guru Dutta, Garg, Ajay, and Sharma, Mehar Chand
- Subjects
MYOBLASTS ,CELL differentiation ,WNT genes ,MELANOCYTES ,SKELETAL muscle ,HISTOPATHOLOGY - Abstract
Medulloblastoma (MB) with melanotic and myogenic differentiation, previously known as melanotic medullomyoblastoma, is an extremely rare histological variant of MB showing melanocytic as well as skeletal muscle differentiation. Only 10 cases of this rare tumor have been reported in the literature to date. We report this case of a 2-year-old male child who presented with a midline cerebellar mass, which on histopathological examination showed classic MB intermixed with cells containing melanin pigment, along with rhabdomyoblasts, spindle cells and occasional strap cells, which corresponded to WNT subgroup on molecular classification. The cell of origin of this MB variant is likely to be neural crest-derived stem cells which are capable of multilineage differentiation. Significant findings from previous reports and important differential diagnoses are discussed. Documentation of these tumors is important to characterize the clinical behaviour and to identify distinct genetic features, if any. [ABSTRACT FROM AUTHOR]
- Published
- 2016
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25. The Adoption of Electronic Commerce by Small and Medium Enterprises in Pretoria East.
- Author
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Garg, Ajay K. and Choeu, Thobeng
- Abstract
Abstract: The objectives of this study were to determine the current level of e‐commerce adoption and factors that motivates the adoption by Small and Medium Enterprises (SMEs) in Pretoria East. A structured questionnaire survey was distributed to 200 randomly selected small and medium enterprises and 48 valid responses were obtained. The results indicate that 67 percentage of SMEs in the sample in Pretoria East have somewhat embraced the adoption of e‐commerce. Retail is the largest industry sector in the sample followed by Service industry with 45.8percentage and 35.4 percentage respectively. The results also indicates that Service sector was at adoption level 2 followed by Retail and others. The results show that only three independent factors namely (relative advantage, competitive pressure, IT knowledge) were statistically significant. Relative advantage emerged as the most important factor influencing the adoption of e‐commerce among SMEs in terms of relative importance. The Chi‐square test indicates that the type of business, occupation level, numbers of employees in the company and academic qualification did influence the adoption levels amongst SMEs whilst how long as owner/manager and gender did not influence the adoption level. [ABSTRACT FROM AUTHOR]
- Published
- 2015
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- View/download PDF
26. Diagonistic Dyspraxia and Apraxia in NMDA Encephalitis: A Rare Etiology.
- Author
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Samal, Priyanka, Elavarasi, Arunmozhimaran, Padma, Madakasira V., Garg, Ajay, and Goyal, Vinay
- Subjects
APRAXIA ,ETIOLOGY of diseases ,ENCEPHALITIS ,MOTOR cortex ,SPEECH apraxia - Abstract
Keywords: alien limb; intermanual conflict; diagonistic dyspraxia; NMDA encephalitis EN alien limb intermanual conflict diagonistic dyspraxia NMDA encephalitis 474 475 2 04/03/21 20210401 NES 210401 A 21 year old girl presented with apathy, depression and inability to write with her right hand. In some cases, lesions in the anterior corpus callosum, supplementary motor area, medial frontal and cingulate lobes can also present with alien limb phenomenon in which movements of the left upper limbs occur and are reported by the patient as out of their control. The terms diagonistic dyspraxia and intermanual conflict are used synonymously to describe a condition where the left upper limb behaves antagonistically to the right.1 Diagonistic dyspraxia is associated with lesions in the posterior body of the corpus callosum leading to disconnection of the right superior parietal lobule from the left.1 On the other hand, alien limb phenomenon is associated with lesions in the corpus callosum or in the parietal lobes. [Extracted from the article]
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- 2021
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27. Surgery for medically intractable epilepsy due to postinfectious etiologies.
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Chandra, P. S., Bal, Chandrashekar, Garg, Ajay, Gaikwad, Shailesh, Prasad, Kameshwar, Sharma, Bhawani S., Sarkar, Chitra, Singh, M. B., Padma, Vasantha M., and Tripathi, Manjari
- Subjects
ETIOLOGY of diseases ,CENTRAL nervous system infections ,NEUROCYSTICERCOSIS ,SURGICAL excision ,TREATMENT of epilepsy - Abstract
Medically intractable epilepsy (MIE) resulting from postinfectious etiologies requiring surgery have been uncommonly reported. A series of 28 cases are presented (hospital prevalence 5.7%). The mean duration of epilepsy prior to surgery was 8.2 ± 2.1 years. The mean time of onset of epilepsy after central nervous system infection was 1.4 ± 0.9 years (range 0–19 years). The pathologies included postpyogenic meningitic/encephalitic sequel (8), neurocysticercosis (6), tuberculomas/posttuberculous etiology (4), postpyogenic abscess of otogenic etiology (4), posttraumatic abscess–related gliosis (2), and gliosis of unknown infectious etiology (4) cases. Surgery included mesial temporal (11), lateral temporal (4), frontal (9), parietal (2) resections and hemispherotomy (1). Hippocampal sclerosis was seen in nine cases (4 neurocysticercosis) and this occurred in younger persons as compared to neocortical epilepsies. Good outcome (Engel class I and II) was seen in 23 of 28 cases (Engel class I in 17). [ABSTRACT FROM AUTHOR]
- Published
- 2010
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28. Glioneuronal tumor with neuropil-like islands: A new entity.
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Agarwal, Shipra, Suri, Vaishali, Rishi, Arvind, Shukla, Bhaskar, Garg, Ajay, Sharma, Mehar Chand, Sinha, Sumit, and Sarkar, Chitra
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NERVOUS system tumors ,NEUROGLIA ,NEURONS ,FLUORESCENCE in situ hybridization ,FLUORESCENCE microscopy - Abstract
Glioneuronal tumor with neuropil-like islands (GTNI) is a distinctive and rare tumor characterized by both glial and neuronal differentiation. However, unlike other mixed glioneuronal tumors, which are characterized by a favorable prognosis, this neoplasm has been found to be potentially aggressive. We report here a case arising in a 60-year old male patient who presented with seizures, forgetfulness and right-sided hemiparesis, due to a left frontal lobe tumor. Unlike most cases described in the literature, the present tumor was unique in its radiological appearance, which was cystic. On microscopic evaluation, the glial component was chiefly gemistocytic punctuated by neuropil-like islands. Strong nuclear immunolabeling of p53 and absence of 1p/19q deletion by fluorescence in situ hybridization assay were consistent with those in previous reports. [ABSTRACT FROM AUTHOR]
- Published
- 2009
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29. Intracranial inflammatory pseudotumor: Report of a rare case.
- Author
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Suri, Vaishali, Shukla, Bhaskar, Garg, Ajay, Singh, Manmohan, Rishi, Arvind, Sharma, Mehar C., and Sarkar, Chitra
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CELLS ,LYMPHOMAS ,TUMORS ,MENINGIOMA ,ACTIN - Abstract
Inflammatory pseudotumors (IPs) arising in the CNS (IP-CNS) are quite rare. We report here a case of IP in a 5-year-old boy. Intraoperatively there was a well-defined extra-axial lesion in the right frontobasal region with CSF all around. There was no dural attachment. The tumor was removed piece-meal. On pathological examination, the lesion was well circumscribed and comprised of spindled cells in a collagenous background with sprinkling of inflammatory cells. The case was worked up considering the possibilities of low grade glioma, lymphoplasmacyte-rich meningioma, fungal/tubercular infection or inflammatory pseudotumors. Appropriate immunohistochemical stains were performed to rule out the rare possibility of lymphoma or plasmacytoma. The spindled cells were diffusely immunopositive for vimentin and only occasional cells were positive for smooth muscle actin (SMA). The cells did not show anaplastic lymphoma kinase-1 immunopositivity. Based on the above morphological and immunohistochemical analysis, a diagnosis of inflammatory pseudotumor was rendered. [ABSTRACT FROM AUTHOR]
- Published
- 2008
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30. Spinal angiolipoma: Report of three cases and review of MRI features.
- Author
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Garg, Ajay, Gupta, Vipul, Gaikwad, Shailesh, Deol, P, Mishra, Nalin Kant, Sharma, Mehar Chand, and Vaish, Sandeep
- Subjects
- *
SPINAL cord tumors , *MAGNETIC resonance imaging - Abstract
SUMMARY We report three cases of spinal angiolipoma, two intramedullary and one epidural, and review their MRI features. Diagnoses were established preoperatively in all cases. Specific MRI features including the importance of postgadolinium fat-saturated T1-weighted images and presence of vascular flow-voids are discussed with histopathological correlation. A characteristic morphological appearance of intramedullary angiolipoma has been suggested. [ABSTRACT FROM AUTHOR]
- Published
- 2002
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31. Isolated facial myokymia as a presenting feature of pontine neurocysticercosis.
- Author
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Bhatia, Rohit, Desai, Soaham, Garg, Ajay, Padma, Madakasira V., Prasad, Kameshwar, and Tripathi, Manjari
- Abstract
A 45-year-old healthy man presented with 2 weeks history of continuous rippling and quivering movements of his right side of face and neck suggestive of myokymia. MRI scan of the head revealed neurocysticercus in the pons. Treatment with steroids and carbamezapine produced a significant benefit. This is the first report of pontine neurocysticercosis presenting as an isolated facial myokymia. © 2007 Movement Disorder Society [ABSTRACT FROM AUTHOR]
- Published
- 2008
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- View/download PDF
32. Malignancy arising in adamantinomatous craniopharyngioma: Report of a rare case with unusual morphologic features.
- Author
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Das, Sumanta, Sharma, Mehar Chand, Suri, Vaishali, Sahu, Saumya, Garg, Ajay, and Laythalling, Rajinder Kumar
- Abstract
Adamantinomatous craniopharyngioma is a grade 1 tumor that arises in a sellar/suprasellar location. Despite being a grade 1 tumor, there is high recurrence and endocrinal insufficiency. Malignancy arising in craniopharyngioma is extremely rare, has a dismal prognosis, and is currently not included as a separate entity in the World Health Organization Classification of Central Nervous System 5th edition. Here we describe a case of adamantinomatous craniopharyngioma and its malignant counterpart. The malignant part had unique histomorphology and basaloid cells with pseudoglandular architecture and a myxoid background. It bore a striking resemblance to adenoid cystic carcinoma. Both the benign and malignant counterparts were beta‐catenin and SOX‐2 positive, providing proof of the malignant part arising from the benign part. Tumors like squamous cell carcinoma and odontogenic ghost cell carcinoma have been described in cranipharyngioma. This case study is the first to describe this unique morphology of adenoid cystic carcinoma‐like features. The possibility of adenoid cystic carcinoma was excluded by immunohistochemistry. [ABSTRACT FROM AUTHOR]
- Published
- 2024
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33. Founder SPG11 Mutation in the Baniya Community of India.
- Author
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Agarwal, Ayush, Sharma, Pooja, Garg, Divyani, Handique, Jupita, Sonakar, Akhilesh K., Garg, Ajay, Faruq, Mohammed, and Srivastava, Achal K.
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- 2024
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34. Frontal sinus actinomycosis presenting as osteomyelitis of frontal bone
- Author
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Wadhera, Raman, Gulati, S.P., Garg, Ajay, Ghai, Anju, and Kumar, Sanjay
- Published
- 2008
- Full Text
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35. Metabolic scoring in autoimmune epilepsy-Should APE scores be modified?
- Author
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Tripathi M, Thankarajan ARS, Ihtisham K, Garg A, Vibha D, Singh R, Ramanujam B, Varsi E, Bal C, and Tripathi M
- Subjects
- Adolescent, Adult, Aged, Aged, 80 and over, Autoimmune Diseases diagnostic imaging, Autoimmune Diseases epidemiology, Child, Child, Preschool, Epilepsy diagnostic imaging, Epilepsy epidemiology, Female, Humans, Male, Metabolic Diseases diagnostic imaging, Metabolic Diseases epidemiology, Middle Aged, Retrospective Studies, Young Adult, Autoimmune Diseases metabolism, Epilepsy metabolism, Fluorodeoxyglucose F18 metabolism, Magnetic Resonance Imaging methods, Metabolic Diseases metabolism, Positron-Emission Tomography methods
- Abstract
Objective: We evaluate the potential utility of F-18 FDG-PET in addition to MRI in the diagnostic work-up of patients with autoimmune epilepsy (AE) and propose the inclusion of functional imaging in the antibody prevalence in epilepsy (APE) scoring system., Methods: This was a retrospective analysis in 60 patients, diagnosed and treated for AE, of whom 40 were antibody negative (presumed AE) and 20 were antibody positive (definitive AE). All patients had undergone a dedicated brain and whole body FDG-PET in the department of Nuclear Medicine., Results: In the antibody negative group, MRI supported a diagnosis of AE in 23 patients. Both MRI and PET were indicative in 12 cases, and standalone PET was positive in 8. While MRI alone was diagnostic in 57% (23/40), the combined yield of both modalities was 77% (31/40). When PET scores were added to assign the APE score in MRI negative cases, average APE score was 5.4. In the antibody positive group, MRI supported the diagnosis of AE in 7 patients. Both MRI and PET were positive in 4 patients and standalone PET was positive in 5 patients. While MRI alone was diagnostic in 35% (7/20), the combined yield of both modalities was 60% (12/20). When PET scores were added to assign the APE score in MRI negative cases, average APE score was 6.1., Conclusion: The inclusion of metabolic information from PET distinctly improved (the sensitivity of) APE scores to predict autoimmune origin even in antibody negative cases. A larger prospective study of similar type could justify adoption of FDG-PET into the standard diagnostic procedure., (© 2020 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)
- Published
- 2021
- Full Text
- View/download PDF
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