Central nervous system variations and abnormalities in anhidrotic ectodermal dysplasia (AED): neuroimaging findings

2020 ◽  
Vol 61 (10) ◽  
pp. 1377-1387
Author(s):  
Abdurrahim Dusak ◽  
Demet Hafizoglu ◽  
Sara Sebnem Kilic ◽  
Zeynep Yazıcı
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Ectodermal Dysplasia ◽  
Focal Cortical Dysplasia ◽  
Congenital Defects ◽  
Control Group ◽  
Cavum Septum Pellucidum ◽  
Healthy Control ◽  
Anhidrotic Ectodermal Dysplasia ◽  
And Gender

Background Anhidrotic ectodermal dysplasia (AED) is a rare, mostly X-linked recessive genodermatosis, characterized by congenital defects of ectodermal derivative structures as the central nervous system (CNS) is primarily ectodermal in origin. Purpose To evaluate CNS variations and abnormalities in AED. Material and Methods A retrospective analysis was made of the neurological and neuroimaging findings of 17 children (12 boys, 5 girls; median age = 8 years; age range = 2–14 years) diagnosed with AED in our pediatric clinics during 2008–2016. The pattern of CNS variation and abnormalities were evaluated by comparing of these findings with an age- and gender-matched healthy control group with no family history. Results Of the 17 AED cases identified on the basis of neuroimaging findings, 6 (35.3%) were seen to be normal. Associated CNS variation and abnormalities including cavum septum pellucidum (35.3%), callosal dysgenesis (11.8%), prominent Virchow–Robin spaces (64.7%), cortical sulcal dilation (41.1%), mega cisterna magna (35.3%), focal cortical dysplasia (11.8%), and delayed myelination (58.8%) were observed in 11 (64.7%) children with AED. Conclusion AED suggests a spectrum of CNS variation and abnormalities, presenting with neurological and neuroimaging findings, demonstrated in the embryonic surface- and neuro-ectoderm derived structures. The results of this study suggest that CNS variation and abnormalities might be associated with AED.

An Investigation of the Effects of Curcumin on the Changes in the Central Nervous System of Rats Exposed to Aroclor 1254 in the Prenatal Period

2018 ◽  
Vol 17 (2) ◽  
pp. 132-143 ◽  
Author(s):  
Mehmet Eray Alcigir ◽  
Halef Okan Dogan ◽  
Begum Yurdakok Dikmen ◽  
Kubra Dogan ◽  
Sevil Atalay Vural ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Neuron Specific Enolase ◽  
Control Group ◽  
Albino Rats ◽  
Prenatal Period ◽  
Aroclor 1254 ◽  
Rat Pups ◽  
Tunel Reaction ◽  
The Central Nervous System

Background & Objective: Aroclor 1254 is a widespread toxic compound of Polychlorinated Biphenyls (PCBs), which can create significant nervous problems. No remedies have been found to date. The aim of this study was to reveal the damage that occurs in the central nervous system of rat pups exposed to Aroclor 1254 in the prenatal period and to show the inhibiting effect of curcumin, which is a strong anti-oxidant and neuroprotective substance. Method: The study established 3 groups of adult female and male Wistar albino rats. The rats were mated within these groups and the offspring rats were evaluated within the group given Aroclor 1254 only (n=10) and the group was given both Aroclor 1254 and curcumin (n=10) and the control group (n=10). The groups were compared in respect of pathomorphological damage. The immunohistochemical evaluation was made of 8-hydroxdeoxyguanosine (8-OHdG), 4-hydroxynoneal (4HNE), myelin basic protein (MBP) expressions and TUNEL reaction. The biochemical evaluation was made of the changes in the TAS-TOS and Neuron Specific Enolase (NSE) levels. Damage was seen to have been reduced with curcumin in the 8OHdG and TUNEL reactions, especially in the forebrain and the midbrain, although the dosage applied did not significantly change TAS and TOS levels. Consequently, it was understood that Aroclor 1254 caused damage in the central nervous system of the pup in the prenatal period, and curcumin reduced these negative effects, particularly in the forebrain and the midbrain. Conclusion: It was concluded that curcumin could be a potential neuroprotective agent and would be more effective at higher doses.

scholarly journals COT-04 Circulating biomarker for glioblastoma and primary central nervous system lymphoma -Next Generation Sequencing of small noncoding RNA-

2020 ◽  
Vol 2 (Supplement_3) ◽  
pp. ii21-ii21
Author(s):  
Shumpei Onishi ◽  
Fumiyuki Yamasaki ◽  
Motoki Takano ◽  
Ushio Yonezawa ◽  
Kazuhiko Sugiyama ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Noncoding Rna ◽  
Central Nervous System Lymphoma ◽  
Serum Samples ◽  
Small Noncoding Rna ◽  
Non Invasive ◽  
Diagnostic Models ◽  
Healthy Control ◽  
Generation Sequencing

Abstract Objective: Glioblastoma (GBM) and Primary Central Nervous System Lymphoma (PCNSL) are common intracranial malignant tumors. They sometimes present similar radiological findings and diagnoses could be difficult without surgical biopsy. For improving the current management, development of non-invasive biomarkers are desired. In this study, we explored the differently expressed circulating small noncoding RNA (sncRNA) in serum for specific diagnostic tool of GBM and PCNSL. Material & Methods: Serum samples were obtained from three groups: 1) GBM patients (N=26), 2) PCNSL patients (N=14) 3) healthy control (N=114). The total small RNAs were extracted from serum. The whole expression profiles of serum sncRNAs were measured using Next-Generation Sequencing System. We analyzed serum levels of sncRNAs (15–55 nt) in each serum samples. The difference of sncRNAs expression profile among three groups were compared. Data analysis was performed by logistic regression analysis followed by leave-one-out cross-validation (LOOCV). The accuracy of diagnostic models of sncRNAs combination were evaluated by receiver operating characteristic (ROC) analysis. Results: We created the combination models using three sncRNA in each models based on the logistic regression analysis. The model 1 (based on sncRNA-X1, X2 and X3) enabled to differentiate GBM patients form healthy control with a sensitivity of 92.3% and a specificity of 99.2% (AUC: 0.993). The model 2 (based on sncRNA-Y1, Y2 and Y3) enabled to differentiate PCNSL patients form healthy control with a sensitivity of 100% and a specificity of 93.9% (AUC: 0.984). The model 3 (based on sncRNA-Z1, Z2 and Z3) enabled to differentiate GBM patients form PCNSL patients with a sensitivity of 92.3% and a specificity of 78.6% (AUC: 0.920). Conclusion: We found three diagnostic models of serum sncRNAs as non-invasive biomarkers potentially useful for detection of GBM and PCNSL from healthy control, and for differentiation GBM from PCNSL.

scholarly journals Effects of Electroacupuncture on Pain Threshold of Laboring Rats and the Expression of Norepinephrine Transporter andα2 Adrenergic Receptor in the Central Nervous System

2016 ◽  
Vol 2016 ◽  
pp. 1-8
Author(s):  
Qianli Tang ◽  
Qiuyan Jiang ◽  
Suren R. Sooranna ◽  
Shike Lin ◽  
Yuanyuan Feng ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Adrenergic Receptor ◽  
Pain Threshold ◽  
Norepinephrine Transporter ◽  
Control Group ◽  
Tail Flick ◽  
Pregnant Rats ◽  
Tail Flick Test ◽  
The Central Nervous System

To observe the effects of electroacupuncture on pain threshold of laboring rats and the expression of norepinephrine transporter andα2 adrenergic receptor in the central nervous system to determine the mechanism of the analgesic effect of labor. 120 pregnant rats were divided into 6 groups: a control group, 4 electroacupuncture groups, and a meperidine group. After interventions, the warm water tail-flick test was used to observe pain threshold. NE levels in serum, NET, andα2AR mRNA and protein expression levels in the central nervous system were measured. No difference in pain threshold was observed between the 6 groups before intervention. After intervention, increased pain thresholds were observed in all groups except the control group with a higher threshold seen in the electroacupuncture groups. Serum NE levels decreased in the electroacupuncture and MP groups. Increases in NET andα2AR expression in the cerebral cortex and decreases in enlarged segments of the spinal cord were seen. Acupuncture increases uptake of NE via cerebral NET and decreases its uptake by spinal NET. The levels ofα2AR are also increased and decreased, respectively, in both tissues. This results in a decrease in systemic NE levels and may be the mechanism for its analgesic effects.

Immature granulocyte and other hematological inflammatory parameters in patients with migraine headache

2021 ◽  
pp. 101-104
Keyword(s):  
Complete Blood Count ◽  
Control Group ◽  
Age And Gender ◽  
Neutrophil Lymphocyte Ratio ◽  
Lymphocyte Ratio ◽  
Inflammatory Parameters ◽  
Group Data ◽  
Healthy Control ◽  
Immature Granulocyte ◽  
And Gender

Background: Today, many hypotheses have been proposed in the pathogenesis of migraine. The inflammatory hypothesis is one of them. The immature granulocyte count (IGC) is also an inflammatory parameter which importance has been understood recently. There are no studies evaluating IGC in migraine. The aim of the study to investigate the levels of IGC and other hematological inflammatory parameters in migraine. Material and Method: Materials and Methods: Forty-eight patients diagnosed with migraine who applied to Kastamonu Training and Research Hospital Neurology outpatient clinic between 07.01.2020 and 10.01.2021 were included in the study. 42 people with similar age and gender distribution were included for the control group. Data on laboratory tests, age and gender of patients were obtained from the hospital Laboratory Information System (LIS). CBC parameters of the patients at the first admission and before any treatment, calculated with an automated hematological analyzer (XN-1000-Hematology-analyzer-Sysmex Corporation, Japan) were analyzed. Using Complete Blood Count (CBC) data, neutrophil count (NEUT#), neutrophil percentage (NEUT%), lymphocyte percentage (LYMPH%), and IGC were recorded. Neutrophil lymphocyte ratio (NLR), platelet lymphocyte ratio (PLR), and systemic immune inflammation index (SII) values were calculated with the formula. Results: In our study, NLR and IGC was significantly higher than the healthy control group (p=0.002, p=0.025). PLR was also found to be high, but it was not statistically significant (p=0.063). Conclusion: The significantly higher NLR and IGC levels in migraine patients compared to the healthy controls support the role of inflammation in etiopathogenesis.

scholarly journals Analysis of electrogenesis’ changes in mental retardation persons by using computer electroencephalography

2021 ◽  
Vol 11 (11) ◽  
pp. 249-265
Author(s):  
B. Lobasyuk ◽  
L. Bartsevich ◽  
A. Zamkovaya
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Mental Retardation ◽  
Theta Rhythm ◽  
Cognitive Activity ◽  
Control Group ◽  
Bioelectrical Activity ◽  
The Central Nervous System ◽  
Beta Rhythms ◽  
The Brain

Justification. Mental retardation is a persistent decrease in human cognitive activity against the background of organic damage to the central nervous system. Neurophysiological diagnostics, in particular electroencephalography (EEG), most adequately reflects the morpho-functional state of the central nervous system, which is the basis of the mechanisms of mental activity, and the originality of the bioelectrical activity of the brain can be considered as the main indicator that determines a decrease in the level of intellectual development and, thereby, characterizes this state. This provision actualizes the search for highly informative indicators of the originality of the bioelectrical activity of the brain in children with intellectual disabilities. Purspose. With the use of periodometric analysis investigate EEG’s indicators and interhemispheric asymmetry of rhythms amplitudes in MR patients. Materials and methods. The EEG was recorded in a state of calm wakefulness with closed eyes with Neuron-Spectrum-2 electroencephalograph. Differences in indicators were tracked using the calculation of the coefficient of compliance (CC), EEG functional asymmetry coefficients in amplitude were determined, too. Results. It was revealed that in MR patients the amplitudes of the rhythms were greater than in healthy subjects. The greatest increase was determined in theta rhythm in the anterior temporal and posterior temporal leads in the left hemispheres. Duration indices in the delta, theta and alpha ranges of the EEG in mental retardation compared with the control group were increased, and the indices of the duration of beta rhythms - decreased. When analyzing FMPA in MR persons it turned out that in right-handers the negativeness of FMPA indices increased, and in left-handers there was an increase in the positivity of FMPA indices. Conclusions 1. With mental retardation, the amplitudes of the rhythms were greater than in healthy people. The greatest increase was determined in theta rhythm in the anterior temporal and posterior temporal leads in the left hemispheres. 2. The indices of duration in the delta, theta and alpha ranges of the EEG of MR subjects were increased, and the indices of the duration of beta rhythms – decreased. 3. When analyzing FMPA in MR persons, it turned out that in right-handers the negativeness of FMPA indices increased, and in left-handers there was an increase in the positivity of FMPA indices.

scholarly journals Frequency of polymorphisms and protein expression of cyclin-dependent kinase inhibitor 1A (CDKN1A) in central nervous system tumors

2009 ◽  
Vol 127 (5) ◽  
pp. 288-294 ◽  
Author(s):  
Mev Dominguez Valentin ◽  
Renata Canalle ◽  
Rosane de Paula Queiroz ◽  
Luiz Gonzaga Tone
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Protein Expression ◽  
Kinase Inhibitor ◽  
Expression Patterns ◽  
Cns Tumors ◽  
Control Group ◽  
Cyclin Dependent Kinase ◽  
Cross Sectional ◽  
Cyclin Dependent Kinase Inhibitor

CONTEXT AND OBJECTIVE: Genetic investigation of central nervous system (CNS) tumors provides valuable information about the genes regulating proliferation, differentiation, angiogenesis, migration and apoptosis in the CNS. The aim of our study was to determine the prevalence of genetic polymorphisms (codon 31 and 3' untranslated region, 3'UTR) and protein expression of the cyclin-dependent kinase inhibitor 1A (CDKN1A) gene in patients with and without CNS tumors. DESIGN AND SETTING: Analytical cross-sectional study with a control group, at the Molecular Biology Laboratory, Pediatric Oncology Department, Hospital das Clínicas de Ribeirão Preto. METHODS: 41 patients with CNS tumors and a control group of 161 subjects without cancer and paires for sex, age and ethnicity were genotyped using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Protein analysis was performed on 36 patients with CNS tumors, using the Western Blotting technique. RESULTS: The frequencies of the heterozygote (Ser/Arg) and polymorphic homozygote (Arg/Arg) genotypes of codon 31 in the control subjects were 28.0% and 1.2%, respectively. However, the 3'UTR site presented frequencies of 24.2% (C/T) and 0.6% (T/T). These frequencies were not statistically different (P > 0.05) from those seen in the patients with CNS tumors (19.4% and 0.0%, codon 31; 15.8% and 2.6%, 3'UTR site). Regarding the protein expression in ependymomas, 66.67% did not express the protein CDKN1A. The results for medulloblastomas and astrocytomas were similar: neither of them expressed the protein (57.14% and 61.54%, respectively). CONCLUSION: No significant differences in protein expression patterns or polymorphisms of CDKN1A in relation to the three types of CNS tumors were observed among Brazilian subjects.

scholarly journals Experimental study of various central nervous system effects of eugenol in mice and rats

2012 ◽  
Vol 10 (3) ◽  
pp. 208-214 ◽  
Author(s):  
M Sharma ◽  
GP Rauniar ◽  
BP Das
Keyword(s):  
Central Nervous System ◽  
Experimental Study ◽  
Nervous System ◽  
Animal Models ◽  
Antinociceptive Effect ◽  
Test Group ◽  
Control Group ◽  
Anticonvulsant Effect ◽  
Research Activities ◽  
Group I

Background: Eugenol is an essential component of many medicinal herbs. It is a member of the allylbenzene class of chemical compounds. Since years, it is being used in dental practice to relieve pain arising from pulpitis and dentinal hypersensitivity. There are few reports of anticonvulsant effect but further effects are less reported. Lack of comprehensive studies and data of eugenol on the central nervous system effects in animal models thus necessitates further research activities. Objective: To observe and evaluate various neuropharmacological effects like antinociceptive effect, anticonvulsant effect, effect on motor co-ordination, pentobarbital induced sleeping time and anxiolytic effect of eugenol in mice and rats. Methods: It was a quantitative experimental study done in the laboratory setting of the department of Clinical Pharmacology and Therapeutics. For each test, respective animal models were used. Animals were divided into three groups of six each, group I as control, group II as standard control and group III as test group. Results: Significant effects were observed in analgesic, anticonvulsant and sedative model whereas no significant effect as compared to control was observed in test of motor co-ordination and in behavioral models. Conclusion: This study shows eugenol to possess analgesic, anticonvulsant and sedative effect whereas it didn.t have any effect on models of anxiety. Various target sites have been implicated but this study doesn.t conclude a plausible mechanism behind all these observed effects. DOI: http://dx.doi.org/10.3126/hren.v10i3.7137 Health Renaissance; September-December 2012; Vol 10 (No.3);208-214

scholarly journals External Pneumatic Compression of the Legs to Prevent Venous Thromboembolism in Neurosurgical Patients

1977 ◽  
Author(s):  
R. Collins ◽  
N. Coe ◽  
E. Goldstein ◽  
R. Shapiro ◽  
J. Skillman ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Pulmonary Embolism ◽  
Nervous System ◽  
Control Group ◽  
Pulmonary Emboli ◽  
Significant Protection ◽  
Antithrombotic Drugs ◽  
Ruptured Intracranial Aneurysm ◽  
Neurosurgical Patients ◽  
External Pneumatic Compression

Neurosurgical patients are at high risk of venous thrombosis (DVT) and pulmonary embolism (PE) but are poor candidates for antithrombotic drugs for fear of intracranial bleeding. Turpie et al. found external pneumatic compression of the legs (EPC) for five days prevented DVT while applied, but 10 days later EPC group and controls were not different. We compared EPC with inflatable boots vs.. untreated controls in 94 patients with trauma or operations of central nervous system or ruptured intracranial aneurysm, continuing EPC throughout period of bedrest (up to 17 days). Diagnosis of DVT was by 125I-fibrinogen scan confirmed by phlebography in cases with positive scans. Results (Table) showed EPC gave significant protection against DVT in neurosurgical patients. There were no complications of EPC. There were no pulmonary emboli, even in the control group, so surveillance by 125I-fibrinogen scan may help to prevent PE.

scholarly journals Decreased Asialotransferrin in Cerebrospinal Fluid of Patients with Childhood-Onset Ataxia and Central Nervous System Hypomyelination/Vanishing White Matter Disease

2005 ◽  
Vol 51 (11) ◽  
pp. 2031-2042 ◽  
Author(s):  
Adeline Vanderver ◽  
Raphael Schiffmann ◽  
Margaret Timmons ◽  
Katherine A Kellersberger ◽  
Dan Fabris ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Central Nervous System ◽  
Cerebrospinal Fluid ◽  
Nervous System ◽  
White Matter ◽  
Control Group ◽  
White Matter Disease ◽  
Childhood Onset ◽  
Vanishing White Matter Disease ◽  
Vanishing White Matter

Abstract Background: A biomarker for the diagnosis of childhood-onset ataxia and central nervous system hypomyelination (CACH)/vanishing white matter disease (VWM) would have clinical utility and pathophysiologic significance. Methods: We used 2-dimensional gel electrophoresis/mass spectrometry to compare the cerebrospinal fluid proteome of patients with mutation-confirmed CACH/VWM with that of unaffected controls. We characterized selected spots by in-gel digestion, matrix-assisted laser desorption/ionization time-of-flight tandem mass spectrometry, and nanospray Fourier transform mass spectrometry. Results: A specific transferrin spot pattern was detected in the CSF samples of the CACH/VWM group (n = 7), distinguishing them from the control group (n = 23) and revealing that patients with CACH/VWM have a deficiency of the asialo form of transferrin usually present in healthy cerebrospinal fluid. The glycopeptide structure, determined from isolated transferrin spots by use of in-gel digestion and extraction, was found to be consistent with earlier reports. Conclusions: The transferrin isoform abnormality in the cerebrospinal fluid of patients with CACH/VWM appears unique and is a potential clinical diagnostic biomarker. The rapid, efficient diagnosis of this disorder would have a significant impact on clinical studies exploring new strategies for the management and treatment of this disease.

scholarly journals Effect of treatment on cognitive and attention problems in children with narcolepsy type 1

SLEEP ◽  
2020 ◽  
Vol 43 (12) ◽  
Author(s):  
Karin A M Janssens ◽  
Laury Quaedackers ◽  
Gert Jan Lammers ◽  
Pauline Amesz ◽  
Petra van Mierlo ◽  
...  
Keyword(s):  
Processing Speed ◽  
Attention Problems ◽  
Control Group ◽  
Healthy Children ◽  
Regular Treatment ◽  
Verbal Scale ◽  
Treatment Naïve ◽  
Healthy Control ◽  
And Gender

Abstract Study Objectives To ascertain the presence of cognitive and attention problems in treatment naïve children with narcolepsy type 1 (NT1) and to explore whether children recently diagnosed with NT1 improve with respect to cognition and attention problems 1 year after regular treatment for NT1. Methods A total of 15 treatment naïve children (7–15 years) with recently diagnosed NT1 were recruited from three sleep medicine centers in the Netherlands. The control group consisted of 15 healthy children, being frequency matched on age and gender. Both groups were investigated at baseline to examine intelligence profile (Wechsler Intelligence Scale for Children [WISC] III), attention problems, and processing speed (Bourdon Vos and sustained attention to respond task [SART]). These tests were repeated in children with NT1 1 year after regular (behavioral and medication) treatment for NT1. Results Children with NT1 scored significantly lower on the verbal scale and processing speed subscale of the WISC III, showed more fluctuations in reaction time of the Bourdon Vos and made more mistakes during the SART than the healthy control group at baseline. Children with NT1 significantly improved on total IQ score, and on the WISC indices processing speed, and perceptual organization 1 year after treatment. At follow-up, test scores of treated children were largely comparable to those of the control group at baseline. Conclusions Children with NT1 show improvement in several cognitive domains 1 year after start of treatment. Our findings stress the need for early detection and treatment of narcolepsy in childhood.

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