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Article ; Online: CRISPR-Based Gene Editing Techniques in Pediatric Neurological Disorders.

Chrzanowski, Stephen / Batra, Ranjan

2024 Volume 153, Page(s) 166–174

Abstract: The emergence of gene editing technologies offers a unique opportunity to develop mutation-specific treatments for pediatric neurological disorders. Gene editing systems can potentially alter disease trajectory by correcting dysfunctional mutations or ... ...

Abstract	The emergence of gene editing technologies offers a unique opportunity to develop mutation-specific treatments for pediatric neurological disorders. Gene editing systems can potentially alter disease trajectory by correcting dysfunctional mutations or therapeutically altering gene expression. Clustered regularly interspaced short palindromic repeats (CRISPR)-based approaches are attractive gene therapy platforms to personalize treatments because of their specificity, ease of design, versatility, and cost. However, many such approaches remain in the early stages of development, with ongoing efforts to optimize editing efficiency, minimize unintended off-target effects, and mitigate pathologic immune responses. Given the rapid evolution of CRISPR-based therapies, it is prudent for the clinically based child neurologist to have a conceptual understanding of what such therapies may entail, including both benefits and risks and how such therapies may be clinically applied. In this review, we describe the fundamentals of CRISPR-based therapies, discuss the opportunities and challenges that have arisen, and highlight preclinical work in several pediatric neurological diseases.
MeSH term(s)	Humans ; Child ; Gene Editing/methods ; CRISPR-Cas Systems/genetics ; Genetic Therapy ; Muscular Dystrophy, Duchenne ; Nervous System Diseases/genetics ; Nervous System Diseases/therapy
Language	English
Publishing date	2024-02-01
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	639164-3
ISSN	1873-5150 ; 0887-8994
ISSN (online)	1873-5150
ISSN	0887-8994
DOI	10.1016/j.pediatrneurol.2024.01.021
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Article ; Online: Spectroscopic insight into breast cancer: profiling small extracellular vesicles lipids via infrared spectroscopy for diagnostic precision.

Mishra, Abhay / Zehra, Sadaqa / Bharti, Prahalad Kumar / Mathur, Sandeep R / Ranjan, Piyush / Batra, Atul / Inampudi, Krishna K / Modi, Gyan Prakash / Nikolajeff, Fredrik / Kumar, Saroj

Scientific reports

2024 Volume 14, Issue 1, Page(s) 9347

Abstract: Breast cancer, a leading cause of female mortality due to delayed detection owing to asymptomatic nature and limited early diagnostic tools, was investigated using a multi-modal approach. Plasma-derived small EVs from breast cancer patients (BrCa, n = 74) ...

Abstract	Breast cancer, a leading cause of female mortality due to delayed detection owing to asymptomatic nature and limited early diagnostic tools, was investigated using a multi-modal approach. Plasma-derived small EVs from breast cancer patients (BrCa, n = 74) and healthy controls (HC, n = 30) were analyzed. Small EVs (n = 104), isolated through chemical precipitation, underwent characterization via transmission electron microscopy (TEM) and nanoparticle tracking analysis (NTA). Validation involved antibody-based tests (TSG101, CD9, CD81, CD63). Infrared spectra of small EVs were obtained, revealing significant differences in lipid acyl chains, particularly in the C-H stretching of CH3. The study focused on the lipid region (3050-2900 cm
MeSH term(s)	Humans ; Breast Neoplasms/diagnosis ; Female ; Extracellular Vesicles/metabolism ; Extracellular Vesicles/chemistry ; Lipids/chemistry ; Lipids/analysis ; Spectrophotometry, Infrared/methods ; Middle Aged ; Biomarkers, Tumor ; Adult ; Aged
Chemical Substances	Lipids ; Biomarkers, Tumor
Language	English
Publishing date	2024-04-23
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2615211-3
ISSN	2045-2322 ; 2045-2322
ISSN (online)	2045-2322
ISSN	2045-2322
DOI	10.1038/s41598-024-59863-1
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Article: Mouse Models of

Batra, Ranjan / Lee, Chris W

Frontiers in cellular neuroscience

2017 Volume 11, Page(s) 196

Abstract: The presence of hexanucleotide repeat expansion (HRE) in the first intron of the ... ...

Abstract	The presence of hexanucleotide repeat expansion (HRE) in the first intron of the human
Language	English
Publishing date	2017-07-06
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2452963-1
ISSN	1662-5102
ISSN	1662-5102
DOI	10.3389/fncel.2017.00196
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Article: Masson's Hemangioma of Knee: A Rare Case Report.

Ranjan, Rajni / Kumar, Rakesh / Jeyaraman, Madhan / Batra, Ankit / Kumar, Akhilesh / Agarwal, Garima

Journal of orthopaedic case reports

2021 Volume 11, Issue 8, Page(s) 79–83

Abstract: Introduction: Intrasynovial hemangioma, a rare benign vascular lesion of joint cavities, is also called intrasynovial papillary endothelial hyperplasia or Masson's hemangioma (MH). These lesions are characterized by abnormal proliferation of endothelial ...

Abstract	Introduction: Intrasynovial hemangioma, a rare benign vascular lesion of joint cavities, is also called intrasynovial papillary endothelial hyperplasia or Masson's hemangioma (MH). These lesions are characterized by abnormal proliferation of endothelial cells with mild atypia with an organized thrombus. MH follows an individualized protocol for its management. Case report: A 22-year-old male gave a 10-year history of the diagnosed and operated (arthroscopically) case of synovial hemangioma of the left knee and presented with similar complaints. There was no history of trauma or infection over the left knee. The movements of the left knee were normal except with terminal restriction of movements. MRI of the left knee suggested intrasynovial low flow vascular malformation within the substance of the synovium. The patient underwent synovectomy of the hemangiomatous lesion in toto without any recurrence in the follow-up period for 8 months. Histopathology confirmed the diagnosis of intravascular papillary endothelial hyperplasia/MH. Conclusion: Although intrasynovial hemangioma is a very rare clinical entity, Orthopedic surgeons should have a high index of suspicion for MH, when a long-standing pain and hemarthrosis of the knee joint is being encountered in the clinical practice.
Language	English
Publishing date	2021-12-17
Publishing country	India
Document type	Case Reports
ZDB-ID	2658169-3
ISSN	2250-0685
ISSN	2250-0685
DOI	10.13107/jocr.2021.v11.i08.2376
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Article ; Online: Exploring effectiveness in brain removal techniques: A comparison of approaches.

Robertson, Ellen M / Allison, Sara M / Mueller, Caroline M / Ferriby, Andrew C / Roth, Alex R / Batra, Ranjan

Anatomical sciences education

2023 Volume 17, Issue 1, Page(s) 147–156

Abstract: Brain dissection is typically an important part of teaching neuroscience in health professional programs. This results in the need to effectively remove brains, which is often performed in a gross anatomy laboratory in the same curriculum. The aim of ... ...

Abstract	Brain dissection is typically an important part of teaching neuroscience in health professional programs. This results in the need to effectively remove brains, which is often performed in a gross anatomy laboratory in the same curriculum. The aim of this study was to determine the most effective method of brain removal based on the time required for removal, difficulty of removal, and preservation of key brain structures for educational purposes. Six different dissectors performed each of the three calvaria removal approaches and three different spinal cord transection methods rating them for difficulty and tracking the time required. The combination of calvaria and brainstem approaches and the order of completion was randomized to control for fatigue and previous individual experience. After all brains were removed, each was evaluated by neuroscience faculty for utility in education contexts. The study found little difference between the individual approaches for both calvaria removal and spinal cord transection in regards to quality of outcome. The use of a circumferential cut only proved to be the most time-effective method for calvaria removal while a posterior cut between C1 and C2 was the most time-effective and least difficult method for brainstem release. There was no one technique that proved to be most beneficial across all three measures. However, different approaches resulted in a different combination of benefits across the time, difficulty, and outcome ratings that should be considered in light of the individual needs of any program or researcher.
MeSH term(s)	Humans ; Anatomy/education ; Brain/anatomy & histology ; Dissection/education ; Curriculum ; Spinal Cord Injuries ; Teaching
Language	English
Publishing date	2023-08-28
Publishing country	United States
Document type	Randomized Controlled Trial ; Journal Article
ZDB-ID	2483491-9
ISSN	1935-9780 ; 1935-9772
ISSN (online)	1935-9780
ISSN	1935-9772
DOI	10.1002/ase.2333
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Article: Bone marrow metastasis of testicular germ cell tumour: A rare case.

Dubey, Harshita / Jain, Garima / Kumar, Chandan / Ranjan, Amar / Batra, Atul / Chellapuram, Santosh Kumar / Gupta, Swati / Goel, Harsh / Sharma, Anil / Tanwar, Pranay

Heliyon

2023 Volume 9, Issue 6, Page(s) e16703

Abstract: Germ cell tumour (GCT) is the most common testicular tumour that commonly presents as a painless mass. Bone marrow metastasis in cases of testicular GCT is rare; only few case reports are available till date in the literature. Here an adult male ... ...

Abstract	Germ cell tumour (GCT) is the most common testicular tumour that commonly presents as a painless mass. Bone marrow metastasis in cases of testicular GCT is rare; only few case reports are available till date in the literature. Here an adult male presented with an intra-abdominal mass in right iliac fossa with inguinal lymphadenopathy with a deranged kidney function test. Bone marrow (BM) aspirate smear revealed metastatic tumour cells, but BM-biopsy was unremarkable. High serum Beta - HCG (38286 mIU/L) pointed towards germ cell lesion. Lymph node biopsy along with immunomarkers confirmed metastatic foci from germ cell tumor and managed as per standard protocol. Rarely BM aspirate is seen positive for malignancy, while biopsy turns out to be negative. Secondly, BM metastasis of GCT should be considered while dealing with cases like this. Informed consent: This is certified that the informed consent has been obtained from the patient.
Language	English
Publishing date	2023-05-29
Publishing country	England
Document type	Case Reports
ZDB-ID	2835763-2
ISSN	2405-8440
ISSN	2405-8440
DOI	10.1016/j.heliyon.2023.e16703
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Article: Feature extraction with capsule network for the COVID-19 disease prediction though X-ray images.

Darji, Pinesh Arvindbhai / Nayak, Nihar Ranjan / Ganavdiya, Sunny / Batra, Neera / Guhathakurta, Rajib

Materials today. Proceedings

2021 Volume 56, Page(s) 3556–3560

Abstract: Past couple of years, the world is going through one of the biggest pandemic named COVID-19. In the mid of year 2019, it is a very difficult process to predict the COVID-19 just by viewing the images. Later on AI based technology has done a significant ... ...

Abstract	Past couple of years, the world is going through one of the biggest pandemic named COVID-19. In the mid of year 2019, it is a very difficult process to predict the COVID-19 just by viewing the images. Later on AI based technology has done a significant role in the prediction of COVID-19 through biomedical images such as CT scan, X ray etc. This study also implemented the deep learning model for the prediction of COVID-19 through X-ray images. The implemented model is termed as XR-CAPS which consist of two models such as U-Net model and the capsule network. The U Net model is used for performing the segmentation of the images and the capsule networks are applied for performing the feature extraction. The XR-CAPS model is applied on the X-ray images for the prediction of COVID-19 and the evaluation of the model is done by three parameters that are accuracy, sensitivity and specificity. The model is compared with other existing models like ResNet50, DenseNet121 and DenseCapsNet, this has achieved an accuracy of 93.2%, sensitivity of 94% and specificity of 97.1% which is better than other states of the art algorithms.
Language	English
Publishing date	2021-12-07
Publishing country	England
Document type	Journal Article
ZDB-ID	2797693-2
ISSN	2214-7853
ISSN	2214-7853
DOI	10.1016/j.matpr.2021.11.512
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Article: Isolation and Molecular Characterization of MDV-1 from Vaccinated Poultry Birds in Haryana State of India

Kumar, Aman / Maan, N. S. / Mahajan, N. K. / Batra, Kanisht / Ranjan, Koushlesh / Maan, Sushila

Proceedings of the National Academy of Sciences, India, Section B: biological sciences. 2022 Sept., v. 92, no. 3

2022

Abstract: Marek’s disease (MD) is a lymphoproliferative and neuropathic disease of domestic fowl caused by an oncogenic Gallid Herpesvirus-2 (GaHV-2), also known as Marek’s Disease Virus serotype 1 (MDV-1). A total of forty (n = 40) liver samples of 14 outbreaks ... ...

Abstract	Marek’s disease (MD) is a lymphoproliferative and neuropathic disease of domestic fowl caused by an oncogenic Gallid Herpesvirus-2 (GaHV-2), also known as Marek’s Disease Virus serotype 1 (MDV-1). A total of forty (n = 40) liver samples of 14 outbreaks at poultry farm suspected for MD were investigated. Collected samples were processed for classical as well as for molecular diagnosis and further characterization of pathogens for the control of the disease. The Meq gene-based real-time PCR, nested PCR and virus isolation in CEF were performed. Out of 40 biological samples, 80% (32/40) samples were detected positive for MDV-1 by real-time PCR, 67.5% (27/40) by nested PCR and only 25.9% (7/27) by virus isolation in CEF. The nucleotide and deduced amino acid sequence data analysis of Meq gene revealed the presence of virulent MDV-1 strain in the majority of the samples of outbreaks. The mild virulent strain was also confirmed in only one field samples with maximum sequence identity with vaccine strain from the Netherlands (CVI988) and China (814). Present study conclude that the virulent strain of MDV-1 is circulating in Haryana state of India and responsible for morbidity and mortality among vaccinated poultry birds.
Keywords	amino acid sequences ; farms ; genes ; liver ; morbidity ; mortality ; poultry ; quantitative polymerase chain reaction ; sequence analysis ; vaccines ; virulence ; virulent strains ; viruses ; China ; India ; Netherlands
Language	English
Dates of publication	2022-09
Size	p. 679-690.
Publishing place	Springer India
Document type	Article
ZDB-ID	2707745-7
ISSN	2250-1746 ; 0369-8211
ISSN (online)	2250-1746
ISSN	0369-8211
DOI	10.1007/s40011-022-01363-1
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Article: Whole exome sequencing identifies novel variants of PIK3CA and validation of hotspot mutation by droplet digital PCR in breast cancer among Indian population.

Kumar, Rahul / Kumar, Rakesh / Goel, Harsh / Kumar, Sonu / Ningombam, Somorjit Singh / Haider, Imran / Agrawal, Usha / Deo, Svs / Gogia, Ajay / Batra, Atul / Sharma, Ashok / Mathur, Sandeep / Ranjan, Amar / Chopra, Anita / Hussain, Showket / Tanwar, Pranay

Cancer cell international

2023 Volume 23, Issue 1, Page(s) 236

Abstract: Background: Breast cancer (BC) is the most common malignancy with very high incidence and relatively high mortality in women. The PIK3CA gene plays a pivotal role in the pathogenicity of breast cancer. Despite this, the mutational status of all exons ... ...

Abstract	Background: Breast cancer (BC) is the most common malignancy with very high incidence and relatively high mortality in women. The PIK3CA gene plays a pivotal role in the pathogenicity of breast cancer. Despite this, the mutational status of all exons except exons 9 and 20 still remains unknown. Methods: This study uses the whole exome sequencing (WES) based approach to identify somatic PIK3CA mutations in Indian BC cohorts. The resultant hotspot mutations were validated by droplet digital PCR (ddPCR). Further, molecular dynamics (MD) simulation was applied to elucidate the conformational and functional effects of hotspot position on PIK3CA protein. Results: In our cohort, PIK3CA showed a 44.4% somatic mutation rate and was among the top mutated genes. The mutations of PIK3CA were confined in Exons 5, 9, 11, 18, and 20, whereas the maximum number of mutations lies within exons 9 and 20. A total of 9 variants were found in our study, of which 2 were novel mutations observed on exons 9 (p.H554L) and 11 (p.S629P). However, H1047R was the hotspot mutation at exon 20 (20%). In tumor tissues, there was a considerable difference between copy number of wild-type and H1047R mutant was detected by ddPCR. Significant structural and conformational changes were observed during MD simulation, induced due to point mutation at H1047R/L position. Conclusions: The current study provides a comprehensive view of novel as well as reported single nucleotide variants (SNVs) in PIK3CA gene associated with Indian breast cancer cases. The mutation status of H1047R/L could serve as a prognostic value in terms of selecting targeted therapy in BC.
Language	English
Publishing date	2023-10-11
Publishing country	England
Document type	Journal Article
ZDB-ID	2091573-1
ISSN	1475-2867
ISSN	1475-2867
DOI	10.1186/s12935-023-03075-6
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Article ; Online: Bone marrow metastasis of testicular germ cell tumour: A rare case

Dubey, Harshita / Ranjan, Amar / Jain, Garima / Kumar, Chandan / Batra, Atul / Chellapuram, Santosh Kumar / Gupta, Swati / Goel, Harsh / Sharma, Anil / Tanwar, Pranay

Heliyon. 2023 May 29, p.e16703-

2023

Abstract	Germ cell tumour (GCT) is the most common testicular tumour that commonly presents as a painless mass. Bone marrow metastasis in cases of testicular GCT is rare; only few case reports are available till date in the literature. Here an adult male presented with an intra-abdominal mass in right iliac fossa with inguinal lymphadenopathy with a deranged kidney function test. Bone marrow (BM) aspirate smear revealed metastatic tumour cells, but BM-biopsy was unremarkable. High serum Beta - HCG (38286 mIU/L) pointed towards germ cell lesion. Lymph node biopsy along with immunomarkers confirmed metastatic foci from germ cell tumor and managed as per standard protocol. Rarely BM aspirate is seen positive for malignancy, while biopsy turns out to be negative. Secondly, BM metastasis of GCT should be considered while dealing with cases like this. This is certified that the informed consent has been obtained from the patient.
Keywords	adults ; biopsy ; blood serum ; bone marrow ; germ cells ; ilium ; kidney function tests ; lymph nodes ; lymphatic diseases ; males ; metastasis ; neoplasms ; patients ; testes ; Germ cell tumour ; Bone marrow aspirate ; Testis
Language	English
Dates of publication	2023-0529
Publishing place	Elsevier Ltd
Document type	Article ; Online
Note	Pre-press version ; Use and reproduction
ZDB-ID	2835763-2
ISSN	2405-8440
ISSN	2405-8440
DOI	10.1016/j.heliyon.2023.e16703
Database	NAL-Catalogue (AGRICOLA)

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