The goal of this comprehensive evaluation of the literature is to evaluate the methodological quality of the tools available for measuring a child’s posture in relation to cerebral palsy (CP) in accordance with the consensus-based criteria for selection of health measurement instruments (COSMIN) criteria and checklist. The following inclusion criteria were applied while screening studies found in the PubMed, ScienceDirect, Web of Science, and Scopus databases to determine their eligibility: (1) Clinical examinations of the posture of children with CP; (2) age of 3 years or more at all gross motor function classification system levels; (3) posture evaluation measures described; (4) statistics on responsiveness, validity, and reliability for children with CP; and (5) published in peer-reviewed English-language journals. Data on study features, tool or scale characteristics, and study outcomes were evaluated and discussed. The “quality of research” was evaluated using the COSMIN. Seven tools were found and included in this study out of 349,928 studies. Of these, three were observational measurements and four were instruments. The quality of the studies was very good in 40%, adequate in another 40%, and inadequate in the rest of the 20% studies. The evidence’s level of quality for the posture assessment tool’s measurement quality ranged from very low to low. However, none of the tools evaluated every COSMIN-recommended property. There was a lack of evidence about these measures’ responsiveness. Research on the measuring quality of tools used to evaluate posture in children with CP is scarce and of low quality. In accordance with the COSMIN guidelines, additional studies are required. The PROSPERO database has this review registered under the number CRD42022333121.
{"title":"Clinical tools to assess posture in children with cerebral palsy: A systematic review","authors":"Aarti Gupta, Anushree Rai, Siddhartha Sen","doi":"10.25259/jnrp_84_2024","DOIUrl":"https://doi.org/10.25259/jnrp_84_2024","url":null,"abstract":"\u0000\u0000The goal of this comprehensive evaluation of the literature is to evaluate the methodological quality of the tools available for measuring a child’s posture in relation to cerebral palsy (CP) in accordance with the consensus-based criteria for selection of health measurement instruments (COSMIN) criteria and checklist.\u0000\u0000\u0000\u0000The following inclusion criteria were applied while screening studies found in the PubMed, ScienceDirect, Web of Science, and Scopus databases to determine their eligibility: (1) Clinical examinations of the posture of children with CP; (2) age of 3 years or more at all gross motor function classification system levels; (3) posture evaluation measures described; (4) statistics on responsiveness, validity, and reliability for children with CP; and (5) published in peer-reviewed English-language journals. Data on study features, tool or scale characteristics, and study outcomes were evaluated and discussed. The “quality of research” was evaluated using the COSMIN.\u0000\u0000\u0000\u0000Seven tools were found and included in this study out of 349,928 studies. Of these, three were observational measurements and four were instruments. The quality of the studies was very good in 40%, adequate in another 40%, and inadequate in the rest of the 20% studies. The evidence’s level of quality for the posture assessment tool’s measurement quality ranged from very low to low. However, none of the tools evaluated every COSMIN-recommended property. There was a lack of evidence about these measures’ responsiveness.\u0000\u0000\u0000\u0000Research on the measuring quality of tools used to evaluate posture in children with CP is scarce and of low quality. In accordance with the COSMIN guidelines, additional studies are required. The PROSPERO database has this review registered under the number CRD42022333121.\u0000","PeriodicalId":16443,"journal":{"name":"Journal of Neurosciences in Rural Practice","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-08-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141920815","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Gordon Holmes syndrome (GDHS) is a genetic disorder that is inherited in an autosomal recessive manner. It is characterized by the presence of cerebellar ataxia, which refers to a lack of coordination and control of voluntary movements, and hypogonadotropic hypogonadism, which is a condition where the production of hormones that regulate sexual development and function is reduced. In this report, we describe the case of a Turkish patient who has been diagnosed with GDHS. The cause of this syndrome in the patient is a homozygous new mutation in the PNPLA6 gene. The proband case was detected through a collaboration between neurology and medical genetics based on her clinical symptoms. The specific point mutation was identified using the next-generation sequencing (NGS) technology. The patient, who was 28 years old, presented with primary amenorrhea, tremors in her head and both hands, cognitive impairment, cerebellar ataxia, hypogonadotropic hypogonadism, and diabetes. A point mutation, specifically a germline missense mutation c.3380C>G, was identified in exon 31 of the PNPLA6 (NM006702.5) gene. This gene is responsible for encoding the neuropathy target esterase protein. The mutation was found by NGS screening. Her parents were consanguineous and both heterozygous for the same missense mutation. This instance highlights the significant impact of first-degree consanguineous marriage on our nation, particularly in relation to autosomal recessive hereditary illnesses. It underscores the crucial function of genetic counseling in averting such scenarios. Subsequent findings of PNPLA6 variants will provide more elucidation on the correlation between patient genotype and phenotype. The finding of novel variations in every gene has been made feasible by the recent progress of genomic technology.
{"title":"Homozygous germline c.3380C>G missense mutation in PNPLA6 gene in a case of Gordon Holmes syndrome associated with hypogonadotropic hypogonadism, cerebellar ataxia, and juvenile type tremor","authors":"Sezin Canbek, Mehmet Guney Şenol","doi":"10.25259/jnrp_24_2024","DOIUrl":"https://doi.org/10.25259/jnrp_24_2024","url":null,"abstract":"Gordon Holmes syndrome (GDHS) is a genetic disorder that is inherited in an autosomal recessive manner. It is characterized by the presence of cerebellar ataxia, which refers to a lack of coordination and control of voluntary movements, and hypogonadotropic hypogonadism, which is a condition where the production of hormones that regulate sexual development and function is reduced. In this report, we describe the case of a Turkish patient who has been diagnosed with GDHS. The cause of this syndrome in the patient is a homozygous new mutation in the PNPLA6 gene. The proband case was detected through a collaboration between neurology and medical genetics based on her clinical symptoms. The specific point mutation was identified using the next-generation sequencing (NGS) technology. The patient, who was 28 years old, presented with primary amenorrhea, tremors in her head and both hands, cognitive impairment, cerebellar ataxia, hypogonadotropic hypogonadism, and diabetes. A point mutation, specifically a germline missense mutation c.3380C>G, was identified in exon 31 of the PNPLA6 (NM006702.5) gene. This gene is responsible for encoding the neuropathy target esterase protein. The mutation was found by NGS screening. Her parents were consanguineous and both heterozygous for the same missense mutation. This instance highlights the significant impact of first-degree consanguineous marriage on our nation, particularly in relation to autosomal recessive hereditary illnesses. It underscores the crucial function of genetic counseling in averting such scenarios. Subsequent findings of PNPLA6 variants will provide more elucidation on the correlation between patient genotype and phenotype. The finding of novel variations in every gene has been made feasible by the recent progress of genomic technology.","PeriodicalId":16443,"journal":{"name":"Journal of Neurosciences in Rural Practice","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-07-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141821082","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Chromosome Xp22.3 deletion syndrome is a very rare contiguous gene deletion syndrome with variable phenotype due to the deletion of genes from the distal short arm of the X chromosome (Xp), including the short-stature homeobox (SHOX), anosmin-1 (ANOS1), arylsulfatase (ARSL), neuroligin-4 (NLGN4), and steroid sulfatase (STS) genes. We have reviewed the available literature on the chromosome Xp22.3 deletion syndrome. A 10-year-old boy presented with global developmental delay, generalized epilepsy, decreased hearing, and hyperactivity. He had no significant family history. Examination revealed microcephaly, short stature, and dry and scaly skin lesions on the trunk. He had thick arched eyebrows, a depressed nasal bridge, a long philtrum, high arched palate, retrognathia, brachytelephalangy, brachymetatarsia, and mild scoliosis. Brainstem-evoked response audiometry testing revealed moderate hearing loss. Magnetic resonance imaging showed cerebellar tonsillar ectopia. Clinical exome sequencing revealed a likely pathogenic contiguous deletion (~8.10 Mb) spanning genomic location chrX:g.(_630898)_(8732037_)del encompassing ANOS1, ARSL, NLGN4X, SHOX, and STS genes. We have reviewed the available literature for reported associations of Chromosome Xp22.3 deletion syndrome and report a novel association of X-linked ichthyosis, Kallmann syndrome, global developmental delay, short stature, bilateral hearing loss, generalized epilepsy, attention deficit hyperactivity disorder, and intellectual disability.
染色体 Xp22.3 缺失综合征是一种非常罕见的连续基因缺失综合征，由于 X 染色体（Xp）远端短臂上的基因（包括短身材同源染色体（SHOX）、anosmin-1（ANOS1）、芳基硫酸酯酶（ARSL）、神经胶质蛋白-4（NLGN4）和类固醇硫酸酯酶（STS）基因）缺失而导致不同的表型。我们回顾了有关染色体 Xp22.3 缺失综合征的现有文献。一名 10 岁男孩出现全面发育迟缓、全身性癫痫、听力下降和多动。他没有明显的家族史。检查发现他小头畸形、身材矮小、躯干皮肤干燥且有鳞屑。他的眉毛呈粗拱形，鼻梁凹陷，咽鼓管较长，上腭呈高拱形，后腭畸形，手足畸形，手足跖畸形和轻度脊柱侧弯。脑干诱发反应听力测试显示他有中度听力损失。磁共振成像显示小脑扁桃体异位。临床外显子组测序发现了一个可能的致病性连续缺失（约 8.10 Mb），横跨基因组位置 chrX:g.(_630898)_(8732037_)del，包括 ANOS1、ARSL、NLGN4X、SHOX 和 STS 基因。我们查阅了现有文献中关于染色体 Xp22.3 缺失综合征相关性的报道，并报告了一种新的 X 连锁鱼鳞病、卡尔曼综合征、全面发育迟缓、身材矮小、双侧听力损失、全身性癫痫、注意力缺陷多动障碍和智力残疾的相关性。
{"title":"Chromosome Xp22.3 deletion syndrome with X-linked ichthyosis, Kallmann syndrome, short stature, generalized epilepsy, hearing loss, attention deficit hyperactivity disorder, and intellectual disability – A rare report with review of literature","authors":"Pradeep Kumar Gunasekaran, Lokesh Saini, Tanuja Rajial, Sujatha Manjunathan, Veena Laxmi, Rahul Gupta, Ashna Kumar, Arun Sree Parameswaran, Achanya Palayullakandi, Anil Budania, Kuldeep Singh","doi":"10.25259/jnrp_467_2023","DOIUrl":"https://doi.org/10.25259/jnrp_467_2023","url":null,"abstract":"Chromosome Xp22.3 deletion syndrome is a very rare contiguous gene deletion syndrome with variable phenotype due to the deletion of genes from the distal short arm of the X chromosome (Xp), including the short-stature homeobox (SHOX), anosmin-1 (ANOS1), arylsulfatase (ARSL), neuroligin-4 (NLGN4), and steroid sulfatase (STS) genes. We have reviewed the available literature on the chromosome Xp22.3 deletion syndrome. A 10-year-old boy presented with global developmental delay, generalized epilepsy, decreased hearing, and hyperactivity. He had no significant family history. Examination revealed microcephaly, short stature, and dry and scaly skin lesions on the trunk. He had thick arched eyebrows, a depressed nasal bridge, a long philtrum, high arched palate, retrognathia, brachytelephalangy, brachymetatarsia, and mild scoliosis. Brainstem-evoked response audiometry testing revealed moderate hearing loss. Magnetic resonance imaging showed cerebellar tonsillar ectopia. Clinical exome sequencing revealed a likely pathogenic contiguous deletion (~8.10 Mb) spanning genomic location chrX:g.(_630898)_(8732037_)del encompassing ANOS1, ARSL, NLGN4X, SHOX, and STS genes. We have reviewed the available literature for reported associations of Chromosome Xp22.3 deletion syndrome and report a novel association of X-linked ichthyosis, Kallmann syndrome, global developmental delay, short stature, bilateral hearing loss, generalized epilepsy, attention deficit hyperactivity disorder, and intellectual disability.","PeriodicalId":16443,"journal":{"name":"Journal of Neurosciences in Rural Practice","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-07-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141650782","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Mohan Karki, Girish Rajpal, Y. Bundela, Manish Vaish
Osteoporosis is one of the common diseases in the elderly population which can cause compression fracture of the vertebral body due to loss of microarchitecture, loss of density, and deterioration of bone tissue leading to chronic pain, kyphotic deformity of the vertebra, and neurological complications. We report the case of a 68-year-old female, who presented to us with severe midback region pain for one year, which was increased over two months along with numbness in the right leg and difficulty in walking. The radiological investigation and magnetic resonance imaging spine revealed chronic compression fracture with the reduction in height of the L1 vertebra, which is seen with anterior wedging. The patient underwent vertebro-stentoplasty (VS) with bone cement, polymethyl-methacrylate. The patient was discharged well on third day of surgery. The VS for compression fracture of the lumbar vertebra demonstrated better results with improvement in pain and radiological finding in our patient.
{"title":"Percutaneous unilateral vertebro-stentoplasty for painful osteoporotic compression fracture of lumbar vertebra","authors":"Mohan Karki, Girish Rajpal, Y. Bundela, Manish Vaish","doi":"10.25259/jnrp_166_2024","DOIUrl":"https://doi.org/10.25259/jnrp_166_2024","url":null,"abstract":"Osteoporosis is one of the common diseases in the elderly population which can cause compression fracture of the vertebral body due to loss of microarchitecture, loss of density, and deterioration of bone tissue leading to chronic pain, kyphotic deformity of the vertebra, and neurological complications. We report the case of a 68-year-old female, who presented to us with severe midback region pain for one year, which was increased over two months along with numbness in the right leg and difficulty in walking. The radiological investigation and magnetic resonance imaging spine revealed chronic compression fracture with the reduction in height of the L1 vertebra, which is seen with anterior wedging. The patient underwent vertebro-stentoplasty (VS) with bone cement, polymethyl-methacrylate. The patient was discharged well on third day of surgery. The VS for compression fracture of the lumbar vertebra demonstrated better results with improvement in pain and radiological finding in our patient.","PeriodicalId":16443,"journal":{"name":"Journal of Neurosciences in Rural Practice","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141667797","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
A. Pai, Padmakumar Ramachandran, Ashish Rai, Sripadma Pv
Carotid artery stenting (CAS) for symptomatic carotid stenosis (SCS) has emerged as an attractive option in recent times. CAS and topographical patterns of stroke in symptomatic stenosis have been inadequately addressed. With this objective, we conducted a study to analyze infarct patterns and complications of carotid stenting and determine outcome predictors after stenting. A single-center retrospective study from January 01, 2015, to December 31, 2022, on patients with SCS, who underwent carotid stenting with at least six months of follow-up was conducted. Infarct patterns, angiographic findings, procedural complications, and outcomes (favorable [modified Rankin scale (mRS) ≤2] or unfavorable [mRS >2]) were recorded. Chi-square, analysis of variance for qualitative and quantitative variables was employed. Significant variables on univariate analysis were entered into regression and outcome predictors were determined. Ninety-six records were included in the study. Forty-six (47.91%), 12 (12.50%), and 38 (39.58%) patients had territorial infarcts (TIs), border-zone infarcts (BZIs), and mixed infarcts (MIs). National Institutes of Health Stroke Scale (NIHSS) <5 and transient ischemic attack (TIA) were significant (P < 0.05) while the circle of Willis anomalies were comparable in TI versus BZI versus MI. Bradycardia (54.16%) and vessel spasm (19.79%) were noted during stenting. Successful revascularization (residual stenosis <20%) was achieved in 97.87%. Procedural complications were comparable in TI versus BZI versus MI. Minor cerebral hyperperfusion syndrome (CHS) with headache (9.57%), seizure (2.12%) peaking between 6 and 12 h, and severe with basal ganglia hemorrhage and death occurred. There were no major strokes. 64.13% and 75.28% achieved a favorable mRS at one and six months, respectively. NIHSS ≤10, early intervention (≤ 2 weeks), absence of diabetes, hypertension, or ischemic heart disease were significant (P < 0.05) for a favorable outcome. NIHSS ≤10, absence of hypertension at one month and NIHSS ≤10, absence of diabetes at six months were predictors of a favorable outcome. Severe carotid disease predisposed to CHS. Overall, CAS was a safe and effective procedure with 74.15% achieving favorable outcomes at six months.
{"title":"Clinical characteristics and imaging patterns of cerebral infarction with outcomes of carotid artery stenting in symptomatic carotid stenosis: An eight-year journey","authors":"A. Pai, Padmakumar Ramachandran, Ashish Rai, Sripadma Pv","doi":"10.25259/jnrp_627_2023","DOIUrl":"https://doi.org/10.25259/jnrp_627_2023","url":null,"abstract":"\u0000\u0000Carotid artery stenting (CAS) for symptomatic carotid stenosis (SCS) has emerged as an attractive option in recent times. CAS and topographical patterns of stroke in symptomatic stenosis have been inadequately addressed. With this objective, we conducted a study to analyze infarct patterns and complications of carotid stenting and determine outcome predictors after stenting.\u0000\u0000\u0000\u0000A single-center retrospective study from January 01, 2015, to December 31, 2022, on patients with SCS, who underwent carotid stenting with at least six months of follow-up was conducted. Infarct patterns, angiographic findings, procedural complications, and outcomes (favorable [modified Rankin scale (mRS) ≤2] or unfavorable [mRS >2]) were recorded. Chi-square, analysis of variance for qualitative and quantitative variables was employed. Significant variables on univariate analysis were entered into regression and outcome predictors were determined.\u0000\u0000\u0000\u0000Ninety-six records were included in the study. Forty-six (47.91%), 12 (12.50%), and 38 (39.58%) patients had territorial infarcts (TIs), border-zone infarcts (BZIs), and mixed infarcts (MIs). National Institutes of Health Stroke Scale (NIHSS) <5 and transient ischemic attack (TIA) were significant (P < 0.05) while the circle of Willis anomalies were comparable in TI versus BZI versus MI. Bradycardia (54.16%) and vessel spasm (19.79%) were noted during stenting. Successful revascularization (residual stenosis <20%) was achieved in 97.87%. Procedural complications were comparable in TI versus BZI versus MI. Minor cerebral hyperperfusion syndrome (CHS) with headache (9.57%), seizure (2.12%) peaking between 6 and 12 h, and severe with basal ganglia hemorrhage and death occurred. There were no major strokes. 64.13% and 75.28% achieved a favorable mRS at one and six months, respectively. NIHSS ≤10, early intervention (≤ 2 weeks), absence of diabetes, hypertension, or ischemic heart disease were significant (P < 0.05) for a favorable outcome. NIHSS ≤10, absence of hypertension at one month and NIHSS ≤10, absence of diabetes at six months were predictors of a favorable outcome.\u0000\u0000\u0000\u0000Severe carotid disease predisposed to CHS. Overall, CAS was a safe and effective procedure with 74.15% achieving favorable outcomes at six months.\u0000","PeriodicalId":16443,"journal":{"name":"Journal of Neurosciences in Rural Practice","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2024-06-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141369160","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
This study was carried out to compare the usefulness of electroencephalograph (EEG) and optic nerve sheath diameter (ONSD) in the prediction of outcomes in children undergoing management of hepatic encephalopathy (HE) in the intensive care unit (ICU). Twelve children in the age group 8–14 years with HE and raised intracranial pressure (ICP) were reviewed retrospectively for the prognostication value of EEG and ONSD in their management. The study period was from January 2019 to December 2021. The children were selected consecutively as they were admitted to the ICU. Children admitted to the ICU for the management of acute liver failure, HE, and raised ICP were followed up until recovery or death. Serial recordings of EEG and ONSD were done in twelve children during the management of their critical illness period. ONSD is a physical parameter based on cerebrospinal fluid dynamics while EEG is an electrophysiological measure revealing brain activity. Out of 12 children, ONSD normalized in 4, among these four children, three survived and one expired. Nine children had grade 3 and 4 encephalopathy patterns in their EEGs, and no one survived while three children with EEG grade 1 and 2 encephalopathy, all survived. ONSD values and EEG grades most of the time go together; however, EEG predicted more accurately the survival or death. In addition, seizures were seen in three children. EEG and ONSD are sensitive and useful non-invasive techniques in the prognosis and management of HE, EEG may have an edge over ONSD in predicting outcomes.
{"title":"Electroencephalograph and optic nerve sheath diameter: Comparative usefulness in prediction of hepatic encephalopathy outcome in children","authors":"Roshan Koul, S. Alam","doi":"10.25259/jnrp_571_2023","DOIUrl":"https://doi.org/10.25259/jnrp_571_2023","url":null,"abstract":"This study was carried out to compare the usefulness of electroencephalograph (EEG) and optic nerve sheath diameter (ONSD) in the prediction of outcomes in children undergoing management of hepatic encephalopathy (HE) in the intensive care unit (ICU). Twelve children in the age group 8–14 years with HE and raised intracranial pressure (ICP) were reviewed retrospectively for the prognostication value of EEG and ONSD in their management. The study period was from January 2019 to December 2021. The children were selected consecutively as they were admitted to the ICU. Children admitted to the ICU for the management of acute liver failure, HE, and raised ICP were followed up until recovery or death. Serial recordings of EEG and ONSD were done in twelve children during the management of their critical illness period. ONSD is a physical parameter based on cerebrospinal fluid dynamics while EEG is an electrophysiological measure revealing brain activity. Out of 12 children, ONSD normalized in 4, among these four children, three survived and one expired. Nine children had grade 3 and 4 encephalopathy patterns in their EEGs, and no one survived while three children with EEG grade 1 and 2 encephalopathy, all survived. ONSD values and EEG grades most of the time go together; however, EEG predicted more accurately the survival or death. In addition, seizures were seen in three children. EEG and ONSD are sensitive and useful non-invasive techniques in the prognosis and management of HE, EEG may have an edge over ONSD in predicting outcomes.","PeriodicalId":16443,"journal":{"name":"Journal of Neurosciences in Rural Practice","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2024-06-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141370537","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Rajnish Raj, Z. Wani, S. Dar, Tabasum Dilawar, Sameera Altaf, Arouf Beigh, Inaamul Haq
Inflammation has been hypothesized as one of the pathophysiological factor for mood disorders. The neutrophil-to-lymphocyte ratio (NLR) has been proposed as a potential peripheral biomarker of mood episodes, as this is an economical and accessible marker of inflammation. This study aims to determine the role of inflammation in the pathophysiology of bipolar disorder (BD) and the potential of NLR as a marker for differentiating mood disorders. A cross-sectional study was conducted on 195 patients who met the inclusion criteria, of whom 80 were diagnosed with BD (mania), 47 with BD (depression), and 68 with major depressive disorder (MDD). Sociodemographic details and a blood sample were taken for hemogram measures. The NLR and MLR were calculated using the following formula: NLR = neutrophil count/lymphocyte count and MLR = monocyte count/lymphocyte count, and statistical analysis was done. The mean age (±standard deviation) of patients with mania, bipolar depression, and MDD were 35.97 (±13.14), 39.27 (±14.28), and 33.41 (±13.21) years, respectively, with an almost equal representation of male and female gender. The NLR ratio of 2.41 ± 0.84 was highest in BD (mania), followed by 1.75 ± 0.41 in bipolar depression and 1.67 ± 0.45 in MDD, which was significant (P < 0.001), while MLR ratio in BD (mania) was highest, followed by MDD and bipolar depression. Our result indicates NLR as a marker of differentiation and, thus, strengthens the pathophysiological importance of inflammation in mood disorders.
{"title":"The potential inflammatory biomarker of bipolar disorder: Neutrophil-to-lymphocyte Ratio – A hospital-based cross-sectional study","authors":"Rajnish Raj, Z. Wani, S. Dar, Tabasum Dilawar, Sameera Altaf, Arouf Beigh, Inaamul Haq","doi":"10.25259/jnrp_143_2024","DOIUrl":"https://doi.org/10.25259/jnrp_143_2024","url":null,"abstract":"\u0000\u0000Inflammation has been hypothesized as one of the pathophysiological factor for mood disorders. The neutrophil-to-lymphocyte ratio (NLR) has been proposed as a potential peripheral biomarker of mood episodes, as this is an economical and accessible marker of inflammation. This study aims to determine the role of inflammation in the pathophysiology of bipolar disorder (BD) and the potential of NLR as a marker for differentiating mood disorders.\u0000\u0000\u0000\u0000A cross-sectional study was conducted on 195 patients who met the inclusion criteria, of whom 80 were diagnosed with BD (mania), 47 with BD (depression), and 68 with major depressive disorder (MDD). Sociodemographic details and a blood sample were taken for hemogram measures. The NLR and MLR were calculated using the following formula: NLR = neutrophil count/lymphocyte count and MLR = monocyte count/lymphocyte count, and statistical analysis was done.\u0000\u0000\u0000\u0000The mean age (±standard deviation) of patients with mania, bipolar depression, and MDD were 35.97 (±13.14), 39.27 (±14.28), and 33.41 (±13.21) years, respectively, with an almost equal representation of male and female gender. The NLR ratio of 2.41 ± 0.84 was highest in BD (mania), followed by 1.75 ± 0.41 in bipolar depression and 1.67 ± 0.45 in MDD, which was significant (P < 0.001), while MLR ratio in BD (mania) was highest, followed by MDD and bipolar depression.\u0000\u0000\u0000\u0000Our result indicates NLR as a marker of differentiation and, thus, strengthens the pathophysiological importance of inflammation in mood disorders.\u0000","PeriodicalId":16443,"journal":{"name":"Journal of Neurosciences in Rural Practice","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2024-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141378735","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Vikas Muppa, S. Mahapatro, S. Bhoi, A. Satapathy, Lokesh Saini
The primary objective of this study is to measure the effect of melatonin in decreasing seizure frequency in intervention group as compared to controls in children with drug-resistant epilepsy. An open-label randomized controlled trial was conducted from July 2020 to June 2022 in children between 2 and 14 years with drug-resistant epilepsy attending Pediatric and Neurology outpatient department and inpatient department. After noting down baseline seizure frequency, children were randomized into the melatonin group and control group. In the melatonin group, add-on melatonin was added to the existing ASM, and in the control group, ASMs were continued. The primary and secondary outcomes were measured after 3 months of follow-up. The percentage change in the seizure frequency between both groups at the end of 3 months of follow-up was not statistically significant, but the percentage reduction of seizure frequency was more than 50% in the melatonin group. Melatonin was well tolerated in our children except for 4 (22%) who developed minor adverse effects. Add-on melatonin decreases seizure frequency to some extent which was not statistically significant with no major side effects. Further studies are needed to assess add-on melatonin’s long-term effectiveness and safety in children with drug-resistant epilepsy.
{"title":"Melatonin as an add-on anti-seizure medication in children with epilepsy: An open-label randomized controlled trial","authors":"Vikas Muppa, S. Mahapatro, S. Bhoi, A. Satapathy, Lokesh Saini","doi":"10.25259/jnrp_615_2023","DOIUrl":"https://doi.org/10.25259/jnrp_615_2023","url":null,"abstract":"\u0000\u0000The primary objective of this study is to measure the effect of melatonin in decreasing seizure frequency in intervention group as compared to controls in children with drug-resistant epilepsy.\u0000\u0000\u0000\u0000An open-label randomized controlled trial was conducted from July 2020 to June 2022 in children between 2 and 14 years with drug-resistant epilepsy attending Pediatric and Neurology outpatient department and inpatient department. After noting down baseline seizure frequency, children were randomized into the melatonin group and control group. In the melatonin group, add-on melatonin was added to the existing ASM, and in the control group, ASMs were continued. The primary and secondary outcomes were measured after 3 months of follow-up.\u0000\u0000\u0000\u0000The percentage change in the seizure frequency between both groups at the end of 3 months of follow-up was not statistically significant, but the percentage reduction of seizure frequency was more than 50% in the melatonin group. Melatonin was well tolerated in our children except for 4 (22%) who developed minor adverse effects.\u0000\u0000\u0000\u0000Add-on melatonin decreases seizure frequency to some extent which was not statistically significant with no major side effects. Further studies are needed to assess add-on melatonin’s long-term effectiveness and safety in children with drug-resistant epilepsy.\u0000","PeriodicalId":16443,"journal":{"name":"Journal of Neurosciences in Rural Practice","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2024-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141269850","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Subhash Samanta, Niraj Kumar, M. Kanimozhi, Manisha Bisht, Ravi Gupta
Adherence to antiparkinsonian medications (APMs) may significantly influence Parkinson’s disease (PD) outcome. The present study assesses the role of motor and non-motor features, and prescription patterns on adherence. This observational and cross-sectional study included 50 PD patients taking APMs for ≥24 months. Demographic data, PD characteristics, treatment, and follow-up history were collected. Patients following up at least once in six months were considered as regular, else were labeled irregular. Montreal cognitive assessment, patient health questionnaire-4, Pittsburgh sleep quality (SQ) index, Epworth sleepiness scale, global quality of life (GQOL) scale, and Morisky Green Levine medication adherence scale (MGL-MAS) were used to evaluate cognition, depressive and anxiety features, SQ, excessive daytime sleepiness (EDS), quality of life (QOL), and APMs adherence, respectively. Nearly half (46%) of the PD patients reported high adherence (MGL-MAS = 0). Most of the clinical characteristics were comparable between those with medium/low and high adherence, except for a larger proportion of patients in the medium/low adherence group belonging to Hoehn–Yahr stage >2 (P = 0.02). A comparable proportion of patients in both groups reported poor SQ (P = 0.52) and EDS (P = 0.32). In comparison to the high adherence group, a significantly lower median GQOL score was observed in the medium/low adherence group (median [interquartile range] = 65 [50–70] vs. 80 [70–85]; P < 0.001). The APMs prescription and follow-up patterns were comparable between both groups. More than half the PD patients reported medium-to-low adherence. While motor severity and depressive symptoms were associated with medium-to-low adherence, poor SQ was comparable in both groups. Those with medium-to-low adherence reported poor QOL.
{"title":"Effect of motor, non-motor clinical features including sleep quality, and prescription pattern on adherence to antiparkinsonian medications in Parkinson’s disease","authors":"Subhash Samanta, Niraj Kumar, M. Kanimozhi, Manisha Bisht, Ravi Gupta","doi":"10.25259/jnrp_585_2023","DOIUrl":"https://doi.org/10.25259/jnrp_585_2023","url":null,"abstract":"\u0000\u0000Adherence to antiparkinsonian medications (APMs) may significantly influence Parkinson’s disease (PD) outcome. The present study assesses the role of motor and non-motor features, and prescription patterns on adherence.\u0000\u0000\u0000\u0000This observational and cross-sectional study included 50 PD patients taking APMs for ≥24 months. Demographic data, PD characteristics, treatment, and follow-up history were collected. Patients following up at least once in six months were considered as regular, else were labeled irregular. Montreal cognitive assessment, patient health questionnaire-4, Pittsburgh sleep quality (SQ) index, Epworth sleepiness scale, global quality of life (GQOL) scale, and Morisky Green Levine medication adherence scale (MGL-MAS) were used to evaluate cognition, depressive and anxiety features, SQ, excessive daytime sleepiness (EDS), quality of life (QOL), and APMs adherence, respectively.\u0000\u0000\u0000\u0000Nearly half (46%) of the PD patients reported high adherence (MGL-MAS = 0). Most of the clinical characteristics were comparable between those with medium/low and high adherence, except for a larger proportion of patients in the medium/low adherence group belonging to Hoehn–Yahr stage >2 (P = 0.02). A comparable proportion of patients in both groups reported poor SQ (P = 0.52) and EDS (P = 0.32). In comparison to the high adherence group, a significantly lower median GQOL score was observed in the medium/low adherence group (median [interquartile range] = 65 [50–70] vs. 80 [70–85]; P < 0.001). The APMs prescription and follow-up patterns were comparable between both groups.\u0000\u0000\u0000\u0000More than half the PD patients reported medium-to-low adherence. While motor severity and depressive symptoms were associated with medium-to-low adherence, poor SQ was comparable in both groups. Those with medium-to-low adherence reported poor QOL.\u0000","PeriodicalId":16443,"journal":{"name":"Journal of Neurosciences in Rural Practice","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2024-05-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140964691","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Kiren George Koshy, Veerendra Kumar M, Subasree Ramakrishnan, R. Kenchaiah, H. R. Arvinda
Carotid atherosclerosis is a significant risk factor for acute ischemic stroke. Three-dimensional (3D) sonography is a new technique that can be used to analyze carotid plaque both quantitatively and qualitatively. The aim was to study carotid atherosclerosis in stroke patients and healthy controls in terms of plaque volume quantification by 3D ultrasound (US). An observational descriptive study was conducted in the stroke unit of a university referral hospital in South India. Patients with ischemic stroke between the ages of 20 and 70 years were studied, along with age- and sex-matched controls. Carotid sonography (2D and 3D) along with Doppler studies was done in all patients, using Philips Affiniti 50 US system. Vascular plaque quantification software was used to assess plaque volume. Twenty-four subjects were recruited, and two were excluded from the study. Twelve were cases, and ten were controls. The mean carotid intima-media thickness (CIMT) (average CIMT in six sites in common carotid artery, three on each side) studied in patients was 0.65 ± 0.10 mm, while that for healthy subjects was 0.62 ± 0.06 mm. The mean plaque volume in patients with stroke or transient ischemic attack was 179.82 ± 310.3 mm3, and that in healthy subjects was 56.75 ± 69.6 mm3. Plaque heterogeneity, surface irregularity, and ulceration were found to be common in symptomatic carotid plaques. The 3D sonography is a non-invasive and simple feasible tool for the analysis of carotid plaque.
{"title":"Carotid plaque volume measurement in ischemic stroke: A pilot study","authors":"Kiren George Koshy, Veerendra Kumar M, Subasree Ramakrishnan, R. Kenchaiah, H. R. Arvinda","doi":"10.25259/jnrp_578_2023","DOIUrl":"https://doi.org/10.25259/jnrp_578_2023","url":null,"abstract":"\u0000\u0000Carotid atherosclerosis is a significant risk factor for acute ischemic stroke. Three-dimensional (3D) sonography is a new technique that can be used to analyze carotid plaque both quantitatively and qualitatively. The aim was to study carotid atherosclerosis in stroke patients and healthy controls in terms of plaque volume quantification by 3D ultrasound (US).\u0000\u0000\u0000\u0000An observational descriptive study was conducted in the stroke unit of a university referral hospital in South India. Patients with ischemic stroke between the ages of 20 and 70 years were studied, along with age- and sex-matched controls. Carotid sonography (2D and 3D) along with Doppler studies was done in all patients, using Philips Affiniti 50 US system. Vascular plaque quantification software was used to assess plaque volume.\u0000\u0000\u0000\u0000Twenty-four subjects were recruited, and two were excluded from the study. Twelve were cases, and ten were controls. The mean carotid intima-media thickness (CIMT) (average CIMT in six sites in common carotid artery, three on each side) studied in patients was 0.65 ± 0.10 mm, while that for healthy subjects was 0.62 ± 0.06 mm. The mean plaque volume in patients with stroke or transient ischemic attack was 179.82 ± 310.3 mm3, and that in healthy subjects was 56.75 ± 69.6 mm3. Plaque heterogeneity, surface irregularity, and ulceration were found to be common in symptomatic carotid plaques.\u0000\u0000\u0000\u0000The 3D sonography is a non-invasive and simple feasible tool for the analysis of carotid plaque.\u0000","PeriodicalId":16443,"journal":{"name":"Journal of Neurosciences in Rural Practice","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2024-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140975932","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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