scholarly journals Association of the Intronic Polymorphism rs3773364 A>G in Synapsin-2 Gene with Epilepsy Patients in Iraq

2021 ◽  
pp. 2169-2175
Author(s):  
Akram Jawad Hameedi ◽  
Asmaa Mohammed Saud
Keyword(s):  
Central Nervous System Disease ◽  
Healthy Individuals ◽  
Recurrent Seizure ◽  
System Disease ◽  
Intronic Polymorphism ◽  
Significant Difference ◽  
Pcr Rflp ◽  
Age Range ◽  
The Brain ◽  
Rflp Assay

     Epilepsy is a central nervous system disease which is characterized by a recurrent seizure that distinguishes it from other similar diseases. Epilepsy may occur due to defects in genes that encode some receptors in the brain. For this reason, this study aimed to understand the association between Synapsin-2 (SYN2) gene and susceptibility to epilepsy. Blood samples were collected from 40 volunteers, including 30 patients suffering epilepsy with an age range of 26-49 years old and 10 healthy individuals with an age range of 25-53 years old. The study sample involved 16 males and 14 females with epilepsy along with 6 males and 4 females healthy subjects.  DNA was isolated from the volunteers for PCR-RFLP assay. Genotyping of rs3773364 A>G SYN2 was conducted and the results refer to a highly significant difference in the distribution of AG genotype (P=0.0001), while there is no significant difference in the distribution of AA and GG genotypes, with p values of 0.1702 and 1.00, respectively. The results also showed that gender did not significantly affect the results when comparing patients with the control (p=0.0934). Our findings indicates that SYN2 rs3773364 A>G confers risk to epilepsy and may be implicated in epileptogenesis.

Vergleich von MRT- und SPECT-Befunden bei Patienten mit zerebraler Mikroangiopathie

1991 ◽  
Vol 30 (05) ◽  
pp. 161-169 ◽  
Author(s):  
C. Weiller ◽  
R. Weigmann ◽  
H.-J. Kaiser ◽  
U. Büll ◽  
R. Schneider ◽  
...  
Keyword(s):  
White Matter Lesions ◽  
Central Nervous System Disease ◽  
Deep White Matter ◽  
Cranial Ct ◽  
System Disease ◽  
Ct Findings ◽  
Hmpao Spect ◽  
Significant Difference ◽  
Cerebral Microangiopathy ◽  
99Mtc Hmpao

Lacunar infarctions and periventricular hypodensity are assumed to be typical CT patterns of cerebral microangiopathy (MA). In 17 patients with such findings and in 6 controls without any signs of central nervous system disease cranial CT, MRT and 99mTc-HMPAO-SPECT were employed. In 7 patients with CT findings of minor MA demonstrated in comparison to controls no significant difference. In 10 cases with CT findings of pronounced MA periventricular rCBF was significantly reduced compared to controls. rCBF of temporal and parietal cortex were not diminished compared to controls. In 14 patients studied with MRT deep white matter lesions were found which appeared solitary, multiple or confluent. Employing 99mTc-HMPAO-SPECT, cerebral MA revealed rCBF reduction in periventricular brain tissue by cerebellar standardization.

PCR-RFLP Detection od PAI-2 Gene Variants: Prevelence in Ethnic Groups and Disease Relationship in patients Undergoing corony Angiography

1997 ◽  
Vol 77 (05) ◽  
pp. 0955-0958 ◽  
Author(s):  
Carole A Foy ◽  
Peter J Grant
Keyword(s):  
Gene Variants ◽  
Genotype Distribution ◽  
Pima Indians ◽  
Significant Difference ◽  
Pcr Rflp ◽  
History Of ◽  
Caucasian Patients ◽  
Clinical Conditions ◽  
Rflp Assay ◽  
Coronary Atheroma

SummaryPAI-2 is a fibrinolytic inhibitor produced predominantly by monocytes. Most PAI-2 is intracellular making study in clinical conditions difficult. Abnormalities in production may be associated with inflammation and fibrinolysis at sites of tissue damage such as the atherosclerotic plaque.PAI-2 gene variants have been described: variant A consists of Asn120, Asn404 and Ser413 and variant B consists of Asp120, Lys404 and Cys413. We designed a PCR-RFLP assay using primers spanning the region containing Asn/Lys404 and Ser/Cys413. Variant B contains an Mwol restriction site. We analysed 302 Pima Indians and 286 healthy Caucasian volunteers. To investigate relationships between genotype and vascular disease we analysed 333 Caucasian patients undergoing coronary angiography.Gene variant B was more common in the Pimas than in Caucasians (p <0.0001). There was no significant difference in genotype distribution between the volunteers and patients. In the patients there was no association between genotype and either a history of MI or extent of coronary atheroma.

scholarly journals Possible Effect of Headphone Usage on Working Memory Among Students in Faculty of Medicine, Ahmadu Bello University, Zaria‒Nigeria

2019 ◽  
pp. 1-4
Author(s):  
Yushau Yusuf ◽  
Muhammad U.A ◽  
Isah F.A
Keyword(s):  
Working Memory ◽  
Signal Processing ◽  
Cognitive Abilities ◽  
Healthy Subjects ◽  
Significant Difference ◽  
Stored Information ◽  
Age Range ◽  
The Relationship ◽  
The Brain ◽  
Back Task

Working memory is a system that is responsible for transient holding and processing of new and already stored information. It also involves processing for reasoning, comprehension, learning and memory updating. Headphones are a pair of small loudspeakers that are designed to be held in place close to a user’s ear. They are electroacoustic transducers which convert electrical signals to a corresponding sound in the user’s ear. Several studies have recently shown a link between cognitive abilities and response to hearing aid and signal processing in the brain. Therefore, the relationship between headphone usage among healthy subjects become pertinent. This study is aimed at evaluating the effect of headphone on working memory using N-back task. One hundred (100) participants (55 headphone users and 45 non-headphone user’s) within the age range of 18-31 years were assessed. Participants were instructed to keep in memory, a series of letters and say “target” whenever there was a repetition of letter with exactly one intervening letter and to remain silent when any other letter appeared. The results of this study showed that there was no statistically significant difference in working memory between headphone and non-headphone users with p>0.05. In conclusion, this study revealed headphone use has no effect on working memory of the participants subjected to N–back test.

scholarly journals A Case of Cerebral Vasculitis Associated with Ulcerative Colitis

2015 ◽  
Vol 2015 ◽  
pp. 1-5 ◽  
Author(s):  
Naveen Raj ◽  
Matthew Arkebauer ◽  
Barry Waters ◽  
Brucha Dickinson
Keyword(s):  
Ulcerative Colitis ◽  
Central Nervous System Disease ◽  
Altered Mental Status ◽  
Inflammatory Disorder ◽  
Cerebral Lesions ◽  
System Disease ◽  
Organ Systems ◽  
History Of ◽  
Inflammatory Bowel ◽  
The Brain

Ulcerative colitis (UC) is a chronic, debilitating condition characterized by inflammation of the colonic mucosa. It is regarded as a systemic inflammatory disorder that can affect a number of organ systems. Central nervous system disease associated with UC is a rare sequela of inflammatory bowel disease, occurring in less than 5% of cases. These manifestations include arterial and venous thrombosis, leukoencephalitis, seizures, and vasculitis. We present a case of a 61-year-old female with a two-year history of well-controlled ulcerative colitis, who developed altered mental status and weakness. On brain imaging, she was found to have cerebral lesions which were biopsied. Histopathology subsequently revealed coagulative necrosis and inflammation characteristic of vasculitis. Rheumatology serologies were negative, and the patient was started on steroids that dramatically improved her neurological function, with no residual deficits, and led to resolution of the brain lesions.

scholarly journals Immune Response-Mediated Protection of Adult but Not Neonatal Mice from Neuron-Restricted Measles Virus Infection and Central Nervous System Disease

1999 ◽  
Vol 73 (3) ◽  
pp. 1795-1801 ◽  
Author(s):  
Diane M. P. Lawrence ◽  
Melinda M. Vaughn ◽  
Alec R. Belman ◽  
Joan S. Cole ◽  
Glenn F. Rall
Keyword(s):  
Central Nervous System ◽  
Immune Response ◽  
Nervous System ◽  
Neurological Disease ◽  
Measles Virus ◽  
Central Nervous System Disease ◽  
Nervous System Disease ◽  
Antiviral Immune Response ◽  
System Disease ◽  
The Brain

ABSTRACT In many cases of neurological disease associated with viral infection, such as measles virus (MV)-induced subacute sclerosing panencephalitis in children, it is unclear whether the virus or the antiviral immune response within the brain is the cause of disease. MV inoculation of transgenic mice expressing the human MV receptor, CD46, exclusively in neurons resulted in neuronal infection and fatal encephalitis within 2 weeks in neonates, while mice older than 3 weeks of age were resistant to both infection and disease. At all ages, T lymphocytes infiltrated the brain in response to inoculation. To determine the role of lymphocytes in disease progression, CD46+ mice were back-crossed to T- and B-cell-deficient RAG-2 knockout mice. The lymphocyte deficiency did not affect the outcome of disease in neonates, but adult CD46+RAG-2− mice were much more susceptible to both neuronal infection and central nervous system disease than their immunocompetent littermates. These results indicate that CD46-dependent MV infection of neurons, rather than the antiviral immune response in the brain, produces neurological disease in this model system and that immunocompetent adult mice, but not immunologically compromised or immature mice, are protected from infection.

scholarly journals Answering the Call: The Influence of Neuroimaging and Electrophysiological Evidence on Rehabilitation

2007 ◽  
Vol 87 (6) ◽  
pp. 684-703 ◽  
Author(s):  
Lara A Boyd ◽  
Eric D Vidoni ◽  
Janis J Daly
Keyword(s):  
Functional Recovery ◽  
Diffusion Tensor ◽  
Central Nervous System Disease ◽  
Neurological Injury ◽  
Cortical Injury ◽  
Electrophysiological Data ◽  
Damage Models ◽  
System Disease ◽  
Positron Emission ◽  
The Brain

Functional recovery after brain damage or disease is dependent on the neuroplastic capability of the cortex and the nonaffected brain. Following cortical injury in the motor and sensory regions, the adjacent spared neural tissues and related areas undergo modifications that are required in order to drive more normal motor control. Current rehabilitation models seek to stimulate functional recovery by capitalizing on the inherent potential of the brain for positive reorganization after neurological injury or disease. This article discusses how neuroimaging and electrophysiological data can inform clinical practice; representative data from the modalities of functional magnetic resonance imaging, diffusion tensor imaging, magnetoencephalography, electroencephalography, and positron emission tomography are cited. Data from a variety of central nervous system disease and damage models are presented to illustrate how rehabilitation practices are beginning to be shaped and informed by neuroimaging and electrophysiological data.

Rasmussen's Syndrome: Intractable Epilepsy and Progressive Neurological Deterioration From a Unilateral Central Nervous System Disease

CNS Spectrums ◽  
2001 ◽  
Vol 6 (5) ◽  
pp. 398,409-416 ◽  
Author(s):  
Paul R. Carney
Keyword(s):  
Central Nervous System ◽  
Cerebral Hemisphere ◽  
Antiviral Agents ◽  
Intractable Epilepsy ◽  
Central Nervous System Disease ◽  
System Disease ◽  
Chronic Encephalitis ◽  
Rasmussen’S Syndrome ◽  
The Brain ◽  
Severe Epilepsy

AbstractRasmussen's syndrome (chronic encephalitis with epilepsy) is a rare neurological disorder of unknown cause characterized by severe epilepsy, hemiplegia, dementia, and inflammation of the brain, and progressive functional and structural destruction of a single cerebral hemisphere. While one mechanism underlying the pathogenesis of Rasmussens encephalitis has been hypothesized to be mediated by production of excitotoxic GluR3 autoantibodies to the a-amino-3-hydroxy-5-methylisoxazole-4-propionic acid (AMPA) receptor, other neuropathological etiologies have also been indicated. Proposed therapies have included antiepileptics, steroids, antiviral agents, alpha-interferon, and immunoglobulin. The mainstay of therapy is surgical hemispherectomy. To date, no medical therapies have permanently halted neurologic deterioration.

scholarly journals Neonatal Alloimmune Neutropenia Due to Maternal Alloimmunization Against Human Neutrophil Alloantigen-1 and -3

Blood ◽  
2014 ◽  
Vol 124 (21) ◽  
pp. 4948-4948
Author(s):  
Larissa Barbosa Lopes ◽  
Samira Ali Abbas ◽  
Elyse Moritz ◽  
Akemi Kuroda Chiba ◽  
Dante Mario Langhi ◽  
...  
Keyword(s):  
Human Neutrophil ◽  
Conflicts Of Interest ◽  
Cross Sectional Study ◽  
Maternal Serum ◽  
Healthy Individuals ◽  
Positive Serology ◽  
Cross Sectional ◽  
Significant Difference ◽  
Pcr Rflp ◽  
Neonatal Neutropenia

Abstract Introduction: Neonatal alloimmune neutropenia (NAN) is a potentially lethal disorder that results from maternal alloimmunization to human neutrophil antigens (HNAs) present in the fetus. The alloantibodies more frequently involved in NAN are against the HNA-1 and -2 systems; however HNA-3, HNA-4 and HNA-5 systems have also been associated with cases of NAN. In this study we examined the frequency of neonatal neutropenia and investigated the presence of maternal anti-HNA-1, anti-HNA-3 and anti-HLA alloantibodies when neonatal neutropenia and maternal-fetal incompatibility to HNA-1 and HNA-3 systems were observed. Furthermore, we investigated the association between neutrophil alloimmunization and HLA-DRB1 alleles. Methods: A cross sectional study included samples from 10,000 unselected neonates born in 4 obstetric units in Sao Paulo City (Brazil). Neonatal neutropenia was defined as neutrophil count <1.5x109/L in cord blood. Genotyping studies were performed in 88 neutropenic newborns and their mothers (83 mothers with 3 pairs of twins and 1 triplet) by PCR-SSP technique for the detection of HNA-1a, -1b and -1c alleles and by PCR-RFLP technique for the detection of HNA-3a and -3b alleles; the PCR-RFLP technique amplifies the sequence for rs2288904 and the amplified product was digested with enzyme Taqα1 specific to nucleotide guanine that codifies the HNA-3a antigen (Lopes et al., Transfusion 2014;54(6):1619-21.). Serologic studies for detecting maternal HNA alloantibodies were performed in maternal-fetal incompatibility cases by granulocyte agglutination test (GAT) that was done in duplicate using a specific panel of donors previously genotyped for HNA-1 and HNA-3 systems. Anti-HLA-I/II antibodies were investigated in maternal serum, and all 83 mothers were genotyped for the HLA-DRB1 gene. Two control groups included mothers with maternal-fetal incompatibility but without alloantibodies, and healthy individuals. Results: Neonatal neutropenia was identified in 88 of 10,000 (0.9%) newborns in the studied population. Genotyping studies revealed 39/88 (44.3%) maternal-fetal HNA incompatibilities corresponding to 28/88 (31.8%) for HNA-1 and 13/88 (14.8%) for HNA-3. In 12/28 (42.9%) cases we found incompatibility for the HNA-1a allele; in 9/28 (32.1%) for HNA-1b; in 4/28 (14.3%) for HNA-1c; in 1/28 (3.6%) for both HNA-1a and -1c; and in 2/28 (7.1%) for both HNA-1b and -1c alleles. In all neutropenic cases related to HNA-3 system mothers were typed as HNA-3a/a and neonates as HNA-3a/b. Using the GAT, HNA alloantibodies were found in 21/39 (53.8%) mothers including 16/28 (57.2%) anti-HNA-1 and 5/13 (38.5%) anti-HNA-3b. The specificity of HNA-1 alloantibodies was confirmed in 9 cases for anti-HNA-1a and in 7 for anti-HNA-1b. Anti-HLA antibodies were detected in 6/16 GAT(+) maternal serum containing anti-HNA-1 and in 2/5 GAT(+) with anti-HNA-3. Two maternal-fetal incompatibility cases occurred concomitantly for HNA-1 and HNA-3 systems; however, only anti-HNA-3b alloantibodies could be identified using the panel of donors. HLA-DRB1 genotyping showed an increased frequency of HLA-DRB1*01 and HLA-DRB1*10 alleles in mothers with HNA incompatibility when anti-HNA were not found. A statistically significant difference was observed between these mothers with HNA incompatibility not alloimmunized and the healthy individuals (HLA-DRB1*01 p=0.0433; HLA-DRB1*10 p=0.0208). Conclusions: The observed frequency of neonatal neutropenia in Brazilians of 0.9% is similar to those described in North Americans and Europeans with a comparable positive serology rate of 53.8% more frequently due to the presence of anti-HNA-1 (76.2%). As for the best of our knowledge this is the first study reporting the presence of anti-HNA-3b alloantibodies in newborns with NAN (23.8%). The frequencies of the HLA-DRB1*01 and HLA-DRB1*10 alleles were increased in mothers with HNA incompatibility without HNA alloantibodies suggesting that such HLA-DRB1 alleles may confer protection against neutrophil alloimmunization in cases of maternal-fetal incompatibility for HNA systems involved with NAN. Disclosures No relevant conflicts of interest to declare.

scholarly journals Naturally Occurring Eastern Equine Encephalitis in a Hampshire Wether

2005 ◽  
Vol 17 (3) ◽  
pp. 281-285 ◽  
Author(s):  
Rudy W. Bauer ◽  
Marjorie S. Gill ◽  
Rob P. Poston ◽  
Dae Young Kim
Keyword(s):  
Fluorescent Antibody ◽  
Clinical Signs ◽  
Central Nervous System Disease ◽  
Thiamine Hydrochloride ◽  
Antibody Testing ◽  
Tetanus Antitoxin ◽  
Eastern Equine Encephalitis ◽  
System Disease ◽  
Hind Limbs ◽  
The Brain

Eastern equine encephalitis (EEE) was diagnosed (postmortem) in a sheep with clinical signs attributable to a central nervous system disease. The sheep was febrile and initially had front limb incoordination, which progressed to paralysis of both front and hind limbs during a course of 2 days. The sheep maintained an alert attitude with the ability to eat up to the time of euthanasia. The only clinical pathologic abnormalities were neutrophilia and lymphopenia without appreciable leukocytosis, a moderate hyperglycemia, and an elevated creatine kinase. Treatment included hydrotherapy for lowering body temperature, intravenous fluids, thiamine hydrochloride, tetanus antitoxin, antibiotics, and corticosteroids. The only gross lesion at the time of necropsy was a wet glistening surface of the brain (leptomeninges). Microscopically, there was severe nonsuppurative meningoencephalitis, poliomyelitis, and polyradiculoneuritis with mild multifocal neutrophilic infiltration. The EEE virus was isolated from the brain, and subsequent fluorescent antibody testing for EEE was positive on cell culture.

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