Browsing by Author "Vivek Sharma"

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A prospective pilot study on serum cleaved tau protein as a neurological marker in severe traumatic brain injury
(Taylor and Francis Ltd, 2017) Sharad Pandey; Kulwant Singh; Vivek Sharma; Deepa Pandey; Ravi Prakash Jha; Sunil Kumar Rai; Richa Singh Chauhan; Royana Singh
Objective: Neurotrauma has been labelled as a “silent epidemic” affecting both the developed and the developing nations. To date, no single brain-specific biomarker has been unanimously accepted for routine clinical use in TBI. Our study aims to determine the correlation of “cleaved-tau protein” in severe traumatic brain injury (TBI) with Glasgow Coma Scale (GCS) at the time of admission, mode of injury, CT findings and outcome at discharge. Methods: The study has been approved by the institutional ethical committee. 40 cases with severe TBI and 40 randomly selected healthy controls were included in this prospective study. Venous blood samples were collected and serum cleaved tau protein levels were measured and correlated with gender, mode of injury, CT findings GCS score and GOS score at discharge. Results: In the severe TBI group, the mean serum cleaved tau protein levels in males were 91.65 ± 41.34 pg/ml (mean ± S.D.), and females were 104.43 ± 53.08 pg/ml (mean ± S.D.), (p = 0.27). Mean serum C-tau level in study group was 95.48 ± 44.87 pg/ml (range 36.44-192.34), 95% C.I. (81.13–109.83) and in controls was 33.82 ± 13.65 pg/ml (range 2.48–66.54), 95% C.I. (29.46–38.19) (p < 0.001). The distribution of serum C-tau was in severe TBI group varied in all categories of GCS at 0th day (p < 0.001). Serum cleaved tau protein levels in the good outcome group were 74.26 ± 25.43 pg/ml (mean ± S.D.), range 36.44–144.54, 95% C.I. (63.52-85.00) and the poor-outcome group were 127.32 ± 49.40 pg/ml, range 66.65–192.34, 95% C.I. (100.99-153.64) (p = 0.001). Conclusion: In severe TBI, serum cleaved tau protein levels were significantly higher as compared to the controls in this prospective study. However, results of this study are preliminary in nature and there is a need to undertake larger prospective studies to reach a definitive conclusion. © 2017 The Neurosurgical Foundation.
Acquired dorsal intraspinal epidermoid cyst in an adult female
(Medknow Publications, 2016) Kulwant Singh; Sharad Pandey; Praveen Gupta; Vivek Sharma; Deepa Santhosh; Amrita Ghosh
Background: Epidermoid and dermoid cyst comprise <1% of spinal tumors and may be congenital (hamartoma) or acquired (iatrogenic) in origin. Epidermoid cysts within the neuraxis are rare benign neoplasms that are most commonly located in the intracranial region. Case Description: Here, we report the a case of an acquired intradural extramedullary epidermoid cyst involving the thoracic region in an adult female who had no associated history of an accompanying congenital spinal deformity. Conclusion: Early diagnosis and immediate surgical intervention reduce patient morbidity. Near complete or subtotal excision of the cyst wall is warranted to prevent inadvertent injury to the spinal cord thus minimizing neurological morbidity. © 2016 Surgical Neurology International.
Bilateral mirror image cervical neurofibroma in an adult with neurofibromatosis type 1
(Penerbit Universiti Sains Malaysia, 2017) Sharad Pandey; Kulwant Singh; Vivek Sharma; Mohammed Tabish Khan; Amrita Ghosh; Deepa Santhosh
Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder characterised by various phenotypic features like hyperpigmented spots, neurofibromas, Lisch nodules, skeletal abnormalities and tendency to develop neoplasms. Only few cases of Non-Familial Spinal Neurofibromatosis-1 (Non-FSNF1) have been described in literature with tumors involving the spinal roots at every level being even rarer. We reported an interesting case of bilateral symmetrical cervical neurofibroma with multiple spinal neurofibromas appearing as mirror image on CT, associated with non familial NF-1 as a rare presentation in a 25-year-old adult male. © Penerbit Universiti Sains Malaysia, 2017.
Bilateral occipital extradural hematoma in a child
(Wolters Kluwer Medknow Publications, 2015) Sharad Pandey; Vivek Sharma; Neeraj Shinde; Mukesh Sharma
Extradural hematoma (EDH) occurs in approximately 2% of all patients with head injuries. Bilateral EDHs account for 2-10% of all acute EDHs in adults but are exceedingly rare in children. Posterior fossa EDHs occurs in 5% of all cases of EDHs. EDHs in children are more frequently venous (from tears of a dural sinus or diploic veins) and consequently have a better prognosis than EDHs in adults. Once the diagnosis of BEH is confirmed, urgent surgical treatment should be considered. We are reporting such rare form of injury as bilateral occipital EDH with supratentorial extension in 12 years child following road traffic accident.
Bilateral Traumatic Intracranial Hematomas and its Outcome: a Retrospective Study
(Springer India, 2017) Sharad Pandey; Vivek Sharma; Kulwant Singh; Deepa Pandey; Mukesh Sharma; Deepak Bhanudas Patil; Neeraj Shende; Richa Singh Chauhan
The objective of this study was to evaluate the age distribution, mode of injury, type of hematomas, and their surgical outcome in patients with bilateral traumatic head injuries. The present study included 669 cases of traumatic head injury who presented at the neurosurgery emergency out of which 94 cases had bilateral head injuries from the period of August 2009 to April 2014. The data from the hospital computerized database were retrospectively analysed. Cases of bilateral traumatic head injury included 94 patients out of which 88.29 % (n = 83) were males and 11.70 % (n = 11) were females. Commonest mode of injury was road traffic accident in 56.38 % (n = 53) followed by fall from height in 29.78 % (n = 28). In our study, 25.53 % patients had epidural hematoma (EDH) with intracerebral hematoma (ICH) or contusion (n = 24), followed by EDH with subarachnoid hemorrhage (SAH) in 18.08 % (n = 17). At the time of discharge, all those patients managed conservatively had good Glasgow outcome scale (GOS) while with surgical intervention 58 % patients had good GOS, 19 % had moderate disability, and 9 % remained with severe disability. In cases of bilateral hematomas, EDH is most common and should be managed in neurosurgical emergency. Other combinations of bilateral intracranial hematomas should be managed according to the surgical indication and serial CT imaging. © 2015, Association of Surgeons of India.
C1and C2nerve sheath tumors: Analysis of 32 cases
(2009) Parmatma Maurya; Kulwant Singh; Vivek Sharma
Background: C1 and C2 nerve sheath tumors are to be considered as a separate clinical entity because of their unique clinical presentation, relation to the adjacent structures and surgical approaches when compared to their counterparts in other regions. Aim: To present the clinical characteristics, radiological findings, operative approaches, and outcomes. Setting and Design: Of the 32 patients, the study was retrospective in 22 patients and in 10 it was prospective. Materials and Methods: Patients′ case records were analyzed. Diagnosis was established by magnetic resonance imaging of craniovertebral junction. Patients were evaluated by Yasargil grading and operative procedure was done accordingly. Results: In this series the tumors were multiple and had extradural extension and hourglass expansion. Surgical results were excellent in most patients when procedure was done early in the course of the disease. Best results in terms of complete removal and good neurological outcome were achieved with posterior or posterolaterlly located lesion. Of the 20 patients who had surgery by posterior approach, 19 (95%) patients had improvement postoperatively, while one (5%) patient remained unchanged. While of the 8 patients who had surgery by posterolateral approach, 6 (75%) had improvement postoperatively, one had no change and the other had neurological deterioration. Conclusion: C1 and C2 nerve sheath tumors are to be considered as a separate clinical entity. Operative results and recovery of patients are excellent when tumor is located posterior or posterolaterally and surgical procedure is done early in the disease course.
Cerebral intraventricular echinococcosis in an adult
(Medknow Publications, 2015) Sharad Pandey; Deepa Pandey; Neeraj Shende; Anurag Sahu; Vivek Sharma
Background: Echinococcosis in humans occurs as a result of infection by the larval stages of taeniid cestodes of the genus echinococcus. Intracranial hydatid cysts usually develop at an intraparenchymal site. Hydatid cyst within the cerebral ventricle is quite unusual. Methods: We reviewed the literature on adult intraventricular hydatid cyst and found case reports mainly in children with an only handful of cases in adults. We reported a rare case of cerebral intraventricular (left lateral ventricle) hydatid cyst in a 21-year-old adult female. Results: Although cerebral hydatid cysts are most commonly seen in children and young adults cerebral intraventricular hydatid cyst are comparatively rarer in adults. Conclusion : The possibility of infection with Echinococcus granulosus should be included in the differential diagnosis of raised intracranial hypertension in patients from endemic areas. © 2015 Pandey S.
Clear cell sarcoma of the paraspinal ligament - A rare tumor at an unusual location: A review
(Wolters Kluwer Medknow Publications, 2016) Sharad Pandey; Anirudha Puntambekar; Vivek Sharma; Kulwant Singh; Deepa Santhosh; Amrita Ghosh; Abhijeet Kunwar
[No abstract available]
Coexisting cranial and multiple spinal meningioma in a child-report of a case
(2011) Sujeet Kumar Shukla; Adarsh Trivedi; Vivek Sharma; Kulwant Singh
Von Ricklinghausen's disease is commonly associated with simultaneous cranial and spinal meningioma but these are not true meningiomas. Craniospinal meningiomas without Von Ricklinghausen's disease are very rare. We report a 13-year-old girl who presented with two episodes of right focal seizure with secondary generalisation of three year's duration, weakness of both lower limbs for 6 months, and retention of urine of three month's duration. MRI brain showed enhancing lesion in the left fronto-parietal region. MRI spine revealed enhancing intradural extramedullary lesion at D4-5, D9-10, and L1-2. The tumours were excised completely in a single stage, first by craniotomy then by multi level laminectomy. On histology the spinal meningioma had predominant meningothiliomatous. We followed up for 6 months and the patient recovered with power grade 4/5 both lower limb. © 2010 Springer Science+Business Media, LLC.
Constraints on bosonic dark matter with low threshold germanium detector at Kuo-Sheng reactor neutrino laboratory
(Physical Society of the Republic of China, 2019) Manoj Kumar Singh; Lakhwinder Singh; Mehmet Agartioglu; Vivek Sharma; Venktesh Singh; Henry Tsz-king Wong
We report results from searches of pseudoscalar and vector bosonic super-weakly interacting massive particles (super-WIMP) in the TEXONO experiment at the Kuo-Sheng Nuclear Power Station, using 314.15 kg days of data from n-type Point-Contact Germanium detector. The super-WIMPs are absorbed and deposit total energy in the detector, such that the experimental signatures are spectral peaks corresponding to the super-WIMP mass. Measured data are compatible with the background model, and no significant excess of super-WIMP signals are observed. We derived new upper limits on couplings of electrons with the pseudoscalar and vector bosonic super-WIMPs in the sub-keV mass region, assuming they are the dominant contributions to the dark matter density of our galaxy. © 2019 The Physical Society of the Republic of China (Taiwan)
Constraints on new physics with light mediators and generalized neutrino interactions via coherent elastic neutrino nucleus scattering
(American Physical Society, 2025) Sevgi Karadaǧ; Muhammed Deniz; S. Karmakar; Major Kumar Singh; Mehmet Demirci; C. Greeshma; Haubin Li; Shinted Lin; M. F. Mustamin; Vivek Sharma; Lakhwinder Singh; M. K. Singh; Venktesh Singh; Henry Tsz King Wong
Weinvestigate new physics effects on coherent elastic neutrino nucleus scattering within the framework of nonstandard interactions and generalized neutrino interactions. Additionally, we examine the possibility of light mediators from a simplified model that includes all possible Lorentz-invariant interactions of vector, axialvector, scalar, pseudoscalar, and tensor types. Constraints and allowed regions at the 90% CL for masses and couplings in each new physics scenario have been obtained through the analysis of TEXONOdata,whichincludes two datasets from a high-purity n-type point contact germanium detector in 2016 and an advanced p-type point contact Ge detector in 2025. The results are presented in comparison with other reactor and accelerator-based neutrino experiments for complementarity. © (2025), (Web Portal American Physical Society). All Rights Reserved.
Dark matter annual modulation analysis with combined nuclear and electron recoil channels
(American Physical Society, 2025) Haubin Li; Mukesh Kumar Pandey; C. H. Leung; Lakhwinder Singh; Henry Tsz King Wong; Hsinchang Chi; Muhammed Deniz; C. Greeshma; Jiunn Wei Chen; H. C. Hsu; Sevgi Karadaǧ; S. Karmakar; V. Kumar; Jin Li; Fong Kay Lin; Shinted Lin; Chengpang Liu; Shukui Liu; Hao Ma; Devendra Kumar Mishra; Kapil Saraswat; Vivek Sharma; Manoj Kumar Singh; Venktesh Singh; D. Tanabe; Jiashian Wang; Chihpan Wu; Litao Yang; C. H. Yeh; Qian Yue
After decades of experimental efforts, the DAMA/LIBRA(DL) annual modulation (AM) analysis on the χN (WIMP dark matter interactions on nucleus) channel remains the only one which can be interpreted as positive signatures. This has been refuted by numerous time-integrated (TI) and AM analysis. It has been shown that χe (WIMP interactions with electrons) alone is not compatible with the DL AM data. We expand the investigations by performing an AM analysis with the addition of χe long-range and short-range interactions to χN, derived using the frozen core approximation method. Two scenarios are considered, where the χN and χe processes are due to a single χ (Γtot1χ) or two different χ's (Γtot2χ). The combined fits with χN and χe provide stronger significance to the DL AM data which are compatible with the presence of additional physical effects beyond χN alone. This is the first analysis which explores how χe AM can play a role in DL AM. The revised allowed regions as well as the exclusion contours from the other null AM experiments are presented. All DL AM allowed parameter spaces in χN and χe channels under both Γtot1χ and Γtot2χ are excluded at the 90% confidence level by the combined null AM results. It can be projected that DL-allowed parameter spaces from generic models with interactions induced by two-WIMPs are ruled out. © 2025 authors. Published by the American Physical Society. Published by the American Physical Society under the terms of the "https://creativecommons.org/licenses/by/4.0/"Creative Commons Attribution 4.0 International license. Further distribution of this work must maintain attribution to the author(s) and the published article's title, journal citation, and DOI. Funded by SCOAP3.
Dorsal spinal epidural psammomatous meningioma in an adult male
(Medknow Publications, 2016) Sharad Pandey; Kulwant Singh; Vivek Sharma; Amrita Ghosh; Saurabh Suman
Meningiomas are benign in nature and arise from the arachnoid cells. They are mostly situated in the intracranial compartment, whereas spinal meningiomas are rare. Approximately, in 10% of cases, an extradural component is seen but an exclusively extradural meningioma is quite uncommon. However, WHO Grade II (atypical) and Grade III (anaplastic) tumors can behave aggressively. We reported a case of purely extradural psammomatous meningioma in an adult male affecting the dorsal spine although uncommon meningiomas should be included in the differential diagnosis of extradural intraspinal masses.
Engineered an ultrasmall curcumin oral nanoformulation restores intestinal integrity and gut microbiota dysbiosis
(Elsevier B.V., 2025) Vivek Sharma; Prateeksha Prateeksha; Balwant Singh Paliya; Sateesh Chandra Gupta; Sarvendra Singh; Anand Anunay; Sushil Agrahari; Shailendra P. Singh; Chandana Venketswara Rao; Saroj Kanta Barik; Brahma Nand Singh
Antibiotic therapy for bacterial infections often disrupts gut microbiota (GM) and intestinal integrity, inducing chronic inflammation and inflammatory bowel diseases. An effective therapeutic intervention is urgently needed to alleviate the aforementioned adverse effects of antibiotics. Curcumin (CUR) reveals great potential to restore intestinal integrity and GM dysbiosis due to its strong antiinflammatory and prebiotic effects. However, the weak solubility and stability of CUR result in limited bioavailability and a short half-life, which restricts its clinical uses. An ultra-small CUR oral nanoformulation was created using a carboxylated galactomannan (cGM), facilitated by hydrogen bonding between the phenolic hydroxyl groups of CUR and the carboxyl groups present on cGM. The developed nanoformulation increased CUR stability both in vitro and in vivo, extended its retention period in the gastrointestinal tract, and enhanced its permeability across the mucus layer and intestinal epithelium to improve oral bioavailability of CUR. The nanoformulation attained notable therapeutic efficacy in restoring intestinal epithelial barrier dysfunction and GM dysbiosis, as validated in an antibiotic-induced in vivo model. This research highlights the benefits of cGM in creating a very stable and ultrasmall nanoformulation for CUR, offering a promising oral nanoplatform for the delivery of CUR. © 2025
Epidemiology and associated risk factors of Parkinson's disease among the north Indian population
(Elsevier B.V., 2017) Akhilesh Kumar Verma; Janak Raj; Vivek Sharma; Tej Bali Singh; Shalabh Srivastava; Ragini Srivastava
Background Parkinson's disease (PD) is complicated with several cardiovascular risk factors such as diabetes, obesity and hypertension. The epidemiological exploration of PD patients in regard to north Indian population is limited in literature. Thus, present study aimed with an epidemiological study of PD and its associated risk factors among the north Indian population. Methods We examined total 384,000 individuals, out of which 260 patients with PD were diagnosed and identified during the period of September-2011 to August-2015. Sociodemographic and clinical status of patients was recorded. Blood pressure and depressive status were measured by expert clinicians as per standard protocol. Results In present explorative study the prevalence of PD, 67.71 per 100,000 individuals has been observed. The observed male/female ratio was 2.66. On Beck Depression Inventory scale for the measurement of depression, 55% depressive PD patients have been observed which included 40% and 15% PD patients with minor and major depression, respectively. Arterial systolic/diastolic blood pressure <130/80, 130/80 to 139/89 and ≥140/90 mmHg have been observed in 23.85%, 35.77% and 40.38% of patients with PD, respectively. Genetic history, head injury/trauma, type-2 diabetes and association of Alzheimer's disease were 5.40%, 7.31%, 6.54% and 3.46% observed among the patients with PD, respectively. Conclusions The study concluded that PD with 67.71 (per 100,000) of prevalence rate can be associated with several risk factors such as male gender, genetic history, head injury/trauma, type-2 diabetes, Alzheimer's disease, depression and blood pressure among the populations of North India. © 2016
First experimental constraints on WIMP couplings in the effective field theory framework from CDEX
(Science in China Press, 2021) Yi Wang; Zhi Zeng; Qian Yue; LiTao Yang; KeJun Kang; YuanJing Li; Mehment Ağartioğlu; HaiPeng An; JianPing Chang; JingHan Chen; YunHua Chen; JianPing Cheng; Cheng Yi Chiang; WenHan Dai; Zhi Deng; ChangHao Fang; XinPing Geng; Hui Gong; QiuJu Guo; XuYuan Guo; HongJian He; Li He; ShengMing He; JinWei Hu; TuChen Huang; HanXiong Huang; HaiTao Jia; LiPing Jia; Xi Jiang; HauBin Li; JianMin Li; Jin Li; MingXuan Li; RenMingJie Li; Xia Li; YuLan Li; Bin Liao; FongKay Lin; ShinTed Lin; ShuKui Liu; YanDong Liu; Yu Liu; YuanYuan Liu; ZhongZhi Liu; Hao Ma; YuCai Mao; QiYuan Nie; JinHua Ning; Hui Pan; NingChun Qi; Jie Ren; XiChao Ruan; ChangSong Shang; Vivek Sharma; Ze She; Lakhwinder Singh; Monoj Kumar Singh; TianXi Sun; ChangJian Tang; WeiYou Tang; Yang Tian; GuangFu Wang; Li Wang; Qing Wang; YuChen Wang; YunXiang Wang; Zhen Wang; Henry Tsz-King Wong; ShiYong Wu; YuCheng Wu; HaoYang Xing; Yin Xu; Tao Xue; YuLu Yan; Nan Yi; ChunXu Yu; HaiJun Yu; JianFeng Yue; Ming Zeng; BingTao Zhang; Lei Zhang; FengShou Zhang; ZhenYu Zhang; KangKang Zhao; MingGang Zhao; JiFang Zhou; ZuYing Zhou; JingJun Zhu
We present weakly interacting massive particles (WIMPs) search results performed using two approaches of effective field theory from the China Dark Matter Experiment (CDEX), based on the data from both CDEX-1B and CDEX-10 stages. In the nonrelativistic effective field theory approach, both time-integrated and annual modulation analyses were used to set new limits for the coupling of WIMP-nucleon effective operators at 90% confidence level (C.L.) and improve over the current bounds in the low mχregion. In the chiral effective field theory approach, data from CDEX-10 were used to set an upper limit on WIMP-pion coupling at 90% C.L. We for the first time extended the limit to the mχ < 6 GeV/c2 region. © 2021, Science China Press and Springer-Verlag GmbH Germany, part of Springer Nature.
First results on 76Ge neutrinoless double beta decay from CDEX-1 experiment
(Science in China Press, 2017) Li Wang; Qian Yue; Ke.Jun. Kang; Jian.Ping. Cheng; Yuan.Jing. Li; Tsz.King.Henry. Wong; Shin.Ted. Lin; Jian.Ping. Chang; Jing.Han. Chen; Qing.Hao. Chen; Yun.Hua. Chen; Zhi Deng; Qiang Du; Hui Gong; Li He; Qing.Ju. He; Jin.Wei. Hu; Han.Xiong. Huang; Teng.Rui. Huang; Li.Ping. Jia; Hao Jiang; Hau.Bin. Li; Hong Li; Jian.Min. Li; Jin Li; Jun Li; Xia Li; Xue.Qian. Li; Yu.Lan. Li; Fong.Kay. Lin; Shu.Kui. Liu; Hao Ma; Jing.Lu. Ma; Xing.Yu. Pan; Jie Ren; Xi.Chao. Ruan; Man.Bin. Shen; Vivek Sharma; Lakhwinder Singh; Manoj.Kumar. Singh; Manoj.Kumar. Singh; Arun.Kumar. Soma; Chang.Jian. Tang; Wei.You. Tang; Chao.Hsiung. Tseng; Ji.Min. Wang; Qing Wang; Shi.Yong. Wu; Yu.Cheng. Wu; Hao.Yang. Xing; Yin Xu; Tao Xue; Li.Tao. Yang; Song.Wei. Yang; Nan Yi; Chun.Xu. Yu; Hai.Jun. Yu; Wei.He. Zeng; Xiong.Hui. Zeng; Zhi Zeng; Lan Zhang; Yun.Hua. Zhang; Ming.Gang. Zhao; Wei Zhao; Ji.Fang. Zhou; Zu.Ying. Zhou; Jing.Jun. Zhu; Wei.Bin. Zhu; Zhong.Hua. Zhu
We report the first results on 76Ge neutrinoless double beta decay from stage one of the China dark-matter experiment (CDEX). A p-type point-contact high-purity germanium detector with a mass of 994 g has been installed to detect neutrinoless double beta decay events, as well as to directly detect dark matter particles. An exposure of 304 kg d has been analyzed over a wide spectral band from 500 keV to 3 MeV. The average event rate obtained was about 0.012 counts per keV per kg per day over the 2.039 MeV energy range. The half-life of 76Ge neutrinoless double beta decay derived based on this result is T1/2 0ν>6.4×1022 yr (90% C.L.). An upper limit on the effective Majorana-neutrino mass of 5.0 eV has been achieved. © 2017, Science China Press and Springer-Verlag Berlin Heidelberg.
Five years' experience at a single centre of craniocerebral injury from winnowing fan blades
(2010) Apoorva Kumar; Ravi Shankar; Rajendra P. Pandey; Virendra Keshri; Kulwant Singh; Vivek Sharma
India, an agriculture-based country, relies heavily on indigenous farm machinery. In our study we present 31 patients with winnowing fan blade head injury, operated on at our centre between 2004 and 2008. The mechanism and nature of the injuries, operative methods, outcome and methods of prevention are discussed with special reference to the occurrence of this type of injury in the pediatric population. © 2009 Elsevier Ltd. All rights reserved.
Identification & characterization of leucine-rich repeat kinase 2 & parkin RBR E3 ubiquitin protein ligase variants in patients with Parkinson's disease
(Wolters Kluwer Medknow Publications, 2020) Tamali Halder; Shiv Verma; Janak Raj; Sharad Pandey; Ranjeet Singh; Vivek Sharma; Deepika Joshi; Parimal Das
Background & objectives: Parkinson's disease (PD) is a motor disorder that affects movement. More than 24 loci and 28 associated genes have been identified to be associated with this disease. The present study accounts for the contribution of two candidates, leucine-rich repeat kinase 2 ( LRRK2) and parkin RBR E3 ubiquitin protein ligase ( PRKN) in the PD patients, and their characterization in silico and in vitro. Methods: A total of 145 sporadic PD cases and 120 ethnically matched healthy controls were enrolled with their informed consent. Mutation screening was performed by direct DNA sequencing of the targeted exons of LRRK2 and all exons flanking introns of PRKN. The effect of the pathogenic PRKN variants on a drug (MG-132) induced loss of mitochondrial membrane potential (△ΨM) was measured by a fluorescent dye tetramethylrhodamine methyl ester (TMRM). Results: Twelve and 20 genetic variants were identified in LRRK2 and PRKN, respectively. Interestingly, five out of seven exonic LRRK2 variants were synonymous. Further assessment in controls confirmed the rarity of two such p.Y1527 and p.V1615. Among the pathogenic missense variations (as predicted in silico) in PRKN, two were selected (p.R42H and p.A82E) for their functional study in vitro, which revealed the reduced fluorescence intensity of TMRM as compared to wild type, in case of p.R42H but not the other. Interpretation & conclusions: About 6.2 per cent of the cases (9/145) in the studied patient cohort were found to carry pathogenic (as predicted in silico) missense variations in PRKN in heterozygous condition but not in case of LRRK2 which was rare. The presence of two rare synonymous variants of LRRK2 (p.Y1527 and p.V1615) may support the phenomenon of codon bias. Functional characterization of selected PRKN variations revealed p.R42H to cause disruption of mitochondrial membrane potential (△ΨM) rendering cells more susceptible to cellular stress. © 2020 Wolters Kluwer Medknow Publications. All rights reserved.
Ipsilateral double extradural hematoma in a child: An uncommon case
(Wolters Kluwer Medknow Publications, 2016) Sharad Pandey; Kulwant Singh; Vivek Sharma; Deepak Bhanudas Patil
Double extradural hematomas (DEDH) comprise 2-10% of all extradural hematomas (EDH). The ipsilateral occurrence of more than one EDH is quite uncommon. We are reporting a case of ipsilateral DEDH in a 10-year-old child following a head injury. Though DEDH is extremely lethal and a rare diagnosis, ipsilateral DEDH is still uncommon. Furthermore, the occurrence of EDH in the pediatric age group is quite unusual. As compared to single EDHs, DEDH should be considered more urgently for neurosurgical intervention. © 2016 Medical Journal of Dr. D.Y. Patil University | Published by Wolters Kluwer - Medknow