SunKrist Neurology, Neurosurgery and Stroke Journal最新文献

{"title":"The Role of Mutations on Gene GRN, in CLN11 Syndrome.","authors":"","doi":"10.46940/snnsj.02.1007","DOIUrl":"https://doi.org/10.46940/snnsj.02.1007","url":null,"abstract":"CLN11 disease is a disorder that primarily affects the nervous system. Individuals with this condition typically show signs and symptoms in adolescence or early adulthood. This condition is characterized by recurrent seizures (epilepsy), vision loss, problems with balance and coordination (cerebellar ataxia), and a decline in intellectual function. Seizures in CLN11 disease often involve a loss of consciousness, muscle stiffness (rigidity), and generalized convulsions (tonic-clonic seizures). Vision loss is gradual over time and is due to a condition called retinitis pigmentosa, which is caused by the breakdown of the light-sensitive layer at the back of the eye (retina). People with CLN11 disease can also develop clouding of the lenses of the eyes (cataracts) and rapid, involuntary eye movements (nystagmus). Affected individuals can also develop muscle twitches (myoclonus), walking problems and falling (gait disturbance), and impaired speech (dysarthria). Over time, people with CLN11 disease develop short-term memory loss and loss of executive function, which is the ability to plan and implement problem-solving strategies and actions. They may also become irritable and impulsive. Some affected individuals experience visual hallucinations involving people or animals. CLN11 disease is one of a group of disorders known as neuronal ceroid lipofuscinoses (NCLs). All of these disorders affect the nervous system and typically cause progressive problems with vision, movement, and thinking ability. The different NCLs are distinguished by their genetic cause. Each disease type is given the designation \"CLN,\" meaning ceroid lipofuscinosis, neuronal, and then a number to indicate its subtype.","PeriodicalId":280856,"journal":{"name":"SunKrist Neurology, Neurosurgery and Stroke Journal","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"129008492","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}

{"title":"Fahr’s Disease with a Thirty Years History of Seizures.","authors":"","doi":"10.46940/snnsj.02.1008","DOIUrl":"https://doi.org/10.46940/snnsj.02.1008","url":null,"abstract":"Fahr's disease/Fahr's syndrome is a rare neurological disorder characterized by symmetrical calcification in various brain parts, most commonly in the basal ganglia. We report a case of Fahr's disease in a 72 -years-old female who presented with delirium. Upon further evaluation, she had a history of seizures for thirty years, dementia for eighteen months, extrapyramidal symptoms for one year and psychiatric symptoms for six months. We diagnosed this case as Fahr's disease and managed in the intensive care unit and wards. We discharged her with medications like tetrabenazine, quetiapine, clonazepam, atorvastatin, donepezil, sodium valproate, vitamins and mineral supplements. We followed her progress for seven months. Her motor and neuro-psychiatric recovery during the period has been encouraging. This report highlights the importance of screening for Fahr’s disease in any case of seizure and bilateral brain calcification, which is highly overlooked and misdiagnosed in our part of the world.","PeriodicalId":280856,"journal":{"name":"SunKrist Neurology, Neurosurgery and Stroke Journal","volume":"191 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"125056702","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}

{"title":"The Effectiveness of Problem-Solving Education on Perceived Stress of Mothers with Children with Special Learning Disabilities.","authors":"","doi":"10.46940/snnsj.02.1006","DOIUrl":"https://doi.org/10.46940/snnsj.02.1006","url":null,"abstract":"Abstract Objectives: The purpose of this study was to determine the effectiveness of problem-solving education on perceived stress of mothers with children with specific learning disabilities in Tehran in 2019. Methods: The method of this study was quasi-experimental with pretest-posttest design with control group. The statistical population of the study was all mothers with children with specific learning disabilities in Tehran. Using convenience sampling method, 40 mothers (20 for each group) were selected from mothers of children with special learning disabilities in Tehran and were randomly divided into experimental and control groups. The experimental group received 7 60-minute sessions of problem-solving training and the control group remained on the waiting list. Data were collected using Cohen's Perceived Stress Questionnaire (1983). Results: Data analysis was done by SPSS 20 software in two parts: descriptive and inferential (covariance analysis). The results showed that the mean of experimental group decreased in perceived stress of mothers with children with specific learning disabilities compared to control group. Conclusions: It can be said that problem solving training has been effective on the perceived stress of mothers of children with specific learning disabilities, so the results represent new horizons in clinical interventions and can be used as an effective intervention method.","PeriodicalId":280856,"journal":{"name":"SunKrist Neurology, Neurosurgery and Stroke Journal","volume":"14 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134318884","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}

{"title":"Cerebral Palsy: A Unique Illustrated Experience.","authors":"Aamir Jalal Al-Mosawi","doi":"10.46940/snnsj.02.1005","DOIUrl":"https://doi.org/10.46940/snnsj.02.1005","url":null,"abstract":"Abstract Background: Cerebral palsy is a heterogeneous condition associated with a non-progressive lesion causing permanent disorder of movement with limited mobility and is generally associated with gross motor developmental delay. In moderate to severe cases of cerebral palsy, motor developmental milestones such as walking may never be achieved. Impaired cognition and delayed speech are also commonly seen. The aim of this paper is describing our illustrated experience with cerebral palsy with emphasis on treatment with multi-factorial therapies. Patients and methods: Seventeen patients with cerebral palsy are described in this paper including two female patients whose early treatment courses were included in previous publications and 15 new cases (11 males and 4 females) observed during seven months period (May-November, 2019). Their ages ranged from 10 months to 9 years. Ten patients had significant spasticity limiting their movements. All patients had developmental delay including delayed speech. Nine patients were unable to sit without support, including a patient with significant dystonia and a patient who could stand and walk with support but was unable to sit without support. Only two patients were able to walk alone, but slowly and with difficulty. Two patients had history of birth asphyxia and one patient had a genetic condition with 2 of his brothers being affected. The patients were treated based on our published experiences with individualized treatment plans providing a combination of various interventions including nutritional support, muscle relaxants, oral pyritinol, intramuscular piracetam, citicoline (oral and injectable), intramuscular cerebrolysin and intramuscular nandrolone decanoate. The aims of these therapies include overcoming spasticity, repairing the brain and improving its function and ultimately improving mobility and advancing development. Results: All patients experienced improvement in motor development without the occurrence of any side effect. However, it was not possible to document the details of treatments and follow-up for all patients, but it was possible to provide an illustrated demonstration of improvement in seven patients. Conclusion: Cerebral palsy is a heterogeneous condition and the emergence of a single therapeutic agent that offers a comprehensive effect to improve its manifestations is very unlikely is the near future. Therefore, the use of evidence-based multi-factorial therapies is advisable. Adequate muscle relaxation is vital to prevent the complications of contractures which appear to cause a progressive disability.","PeriodicalId":280856,"journal":{"name":"SunKrist Neurology, Neurosurgery and Stroke Journal","volume":"61 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"127698081","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}

{"title":"Unusual Presentation of Transient Encephalopathy from Angiographic Contrast, After Neurointerventional Procedure.","authors":"","doi":"10.46940/snnsj.02.1004","DOIUrl":"https://doi.org/10.46940/snnsj.02.1004","url":null,"abstract":"Abstract Neurotoxicity from contrast media used in angiography is a rare complication from these procedures caused by disruption of the blood–brain-barrier (BBB), most of the time presenting as cortical blindness. The infrequency with which it is encountered makes it a diagnostic challenge. We present the case of a 64-year-old male who developed right hemianopsia, prosopagnosia and hallucinations after embolization of a cervical spinal dural arteriovenous fistula. The neurological deficits which appeared after the procedure, regressed completely after 48 hours. This rare entity should be kept in mind but diagnosed only when all other causes have been ruled out.","PeriodicalId":280856,"journal":{"name":"SunKrist Neurology, Neurosurgery and Stroke Journal","volume":"33 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"125567974","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}

{"title":"Thrombolysis with Low-Dose Versus Standard-Dose Alteplase in 4.5 Hours After Acute Ischemic Stroke; A Four-Months Prospective Study.","authors":"","doi":"10.46940/snnsj.02.1003","DOIUrl":"https://doi.org/10.46940/snnsj.02.1003","url":null,"abstract":"Abstract Background: In Japan, Pakistan and Vietnam, 0.6 mg of Alteplase per kilogram body weight within 3 hours was approved for standard guideline, although the safety and efficacy in acute ischemic stroke within 4.5 hours has not been established. We conducted four-month prospective study to compare the safety and efficacy of 0.6 mg, 0.75 mg and 0.9 mg of Alteplase per kilogram body weight. Methods: In cohort A, the patients were randomly assigned to receive intravenous 0.6 mg or 0.75 mg or 0.9 mg of Alteplase per kilogram body weight in a 1:1:1. Interim analysis was performed after complete cohort A. In cohort B, patients were assigned to receive 0.9 mg of Alteplase per kilogram body weight (standard-dose). The primary end points were death, favorable outcome at discharge and 90-day and intra-cerebral hemorrhage. The secondary end points were good outcomes, Improved mRS at discharged and 90-day, number of patients with length of hospital stay <7 days and overall complications. Results: In Cohort A, 78 were randomly assigned to receive 0.6 mg or 0.75 mg (low-dose) or 0.9 mg of intravenous Alteplase per kilogram body weight. Less patients had favorable outcomes in 0.6 mg and 7.5 mg than 0.9 mg of Alteplase per kilogram body weight at discharge (P=0.0004) and at 90-day (P=0.05). In Cohort B, 330 were assigned to receive standard-dose Alteplase. Finally, 408 patients were enrolled with median time of Alteplase administration by 2 hours 49 min. There was no different onset to needle and death between low-dose and standard-dose Alteplase (P=0.82 and P=0.85). Less patients had favorable outcome and intra-cerebral hemorrhage with low-dose than standard-dose Alteplase (favorable outcomes: Relative risk (RR), 1.18; 95% confidence interval (CI), 1.09 to 1.27; P <0.001 at discharge and RR, 1.25; 95%CI, 1.07 to 1.46; P=0.003 at 90 day, intra-cerebral hemorrhage: RR, 0.05; 95%CI, 0.00 to 0.95; P=0.04. Less patients had improved modified Rankin Scale [mRS] at 90-day with low-dose than standard-dose Alteplase (RR, 1.66; 95%CI, 1.22 to 2.25; P=0.001; especially in the patients with initial systolic blood pressure <180 mmHg ; RR, 1.86; 95%CI, 1.35 to 2.56; P=0.0001). In patients with initial systolic blood pressure >180 mmHg, low-dose Alteplase group had more patients with mRS of 0-3 at 90-day and less patients with of mRS 4-6 at 90-day than standard-dose Alteplase (P=0.002). There was no significant different in length of stay and overall complications with low-dose than standard-dose Alteplase (P=0.15). Conclusion: As compared with standard-dose, intravenous low-dose Alteplase administered within 4.5 hours after the onset of stroke significant less favorable outcome, intra-cerebral hemorrhage, but not different in death, especially in the patients with initial systolic blood pressure <180 mmHg. However, patients with initial systolic blood pressure >180 mmHg, intravenous low-dose Alteplase had less patients with disability and death and more patient’s recove","PeriodicalId":280856,"journal":{"name":"SunKrist Neurology, Neurosurgery and Stroke Journal","volume":"59 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134275148","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}

{"title":"Recent Uses of Piracetam in Pediatric Neurology.","authors":"Aamir Jalal Al-Mosawi","doi":"10.46940/snnsj.02.1002","DOIUrl":"https://doi.org/10.46940/snnsj.02.1002","url":null,"abstract":"Abstract Piracetam (2-oxo-1-pyrrolidine acetamide) is a cyclical derivative of GABA (gamma-aminobutyric acid). It was first synthesized during the 1950s by Corneliu E. Giurgea. There are reports of its use for epilepsy in the 1950s. Piracetam can beneficially influence impaired brain function by improving neuronal and cognitive functions without acting as a sedative or stimulant, increasing blood flow and oxygen consumption in the brain and improving the function of the neurotransmitters and brain neurotransmission.","PeriodicalId":280856,"journal":{"name":"SunKrist Neurology, Neurosurgery and Stroke Journal","volume":"49 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-05-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"133817378","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}

{"title":"Atypical Manifestations in Children with Guillain Barré Syndrome.","authors":"","doi":"10.46940/snnsj.01.1001","DOIUrl":"https://doi.org/10.46940/snnsj.01.1001","url":null,"abstract":"Abstract Guillain Barré Syndrome (GBS) is an acute single-phase causal disease that occurs after an infection. An analysis ranges from 0.5-1.5/100,000 children, predominates in males. Initiatives with the limbs followed by progressive, symmetrical muscle weakness, with the principle of lower nodes (lower limbs). In children, the predominance is the difficulty of gait and greater involvement of the cranial pairs. Young children are difficult to diagnose because they have atypical complaints and a more challenging neurological examination. In case of suspicion, the patient should be hospitalized in a pediatric ICU, where he/she should remain monitored, with frequent surveillance and treatment should not be delayed, reducing the frequency and severity of complications.","PeriodicalId":280856,"journal":{"name":"SunKrist Neurology, Neurosurgery and Stroke Journal","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2019-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"128475043","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}

{"title":"A Novel Therapeutic Approach for Treating Rett Syndrome.","authors":"Aamir Jalal Al-Mosawi","doi":"10.46940/snnsj.03.1009","DOIUrl":"https://doi.org/10.46940/snnsj.03.1009","url":null,"abstract":"Background: Rett syndrome is a rare X-linked dominant neuro-developmental and pervasive developmental disorder that has no satisfactory or effective treatment. The diagnosis is generally clinical and autistic feature is a typical finding in all patients. We have previously described the short-term treatment of an Iraqi girl with Rett syndrome who was first seen at the age of about three years. The girl was treated with intramuscular cerebrolysin and oral citicoline for 40 days. Treatment was associated with significant improvement with the development of purposeful movement and the ability to hold feeding bottle with assistant of the mother and feed her. She was able to stand and step one step holding furniture. She started babbling and showed some reduction in the autistic features.\u0000The aim of this paper is to describe the extended treatment of the girl with Rett syndrome which was treated with a novel therapeutic approach which included intramuscular cerebrolysin, citicoline and piracetam.\u0000Patients and methods: After the initial 40 days treatment, the girl received several treatment courses that included intramuscular cerebrolysin, citicoline and piracetam. \u0000Results: Several months of treatment resulted in improvements in behavior, autistic features and mobility and she was walking confidently holding a wall or furniture. Treatment was not associated with any side effects.\u0000Conclusion: Rett syndrome is a very complex neuro-developmental and pervasive developmental disorder that has no satisfactory or effective treatment. The use of novel therapeutic approach which included intramuscular cerebrolysin, citicoline and piracetam for the treatment of Rett syndrome resulted in within few months a significant improvement that have not been reported without treatment or with any other therapies before.","PeriodicalId":280856,"journal":{"name":"SunKrist Neurology, Neurosurgery and Stroke Journal","volume":"32 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"115184725","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}

{"title":"Recommendations for Cerebrospinal Fluid Cytology. A Review Article","authors":"P. Adam, D. Hepnar, P. Kalvach, J. Kasik, J. Vránová, H. Žáková, M. Krušina, I. Karpowicz, J. Nasler, T. Fiala, M. Mamiňák, P. Jaroš, I. Malikova, J. Mares, V. Šigut, Z. Tokár, Filipovský, M. Kalousová, E. Czyžová","doi":"10.46940/snnsj.03.1010","DOIUrl":"https://doi.org/10.46940/snnsj.03.1010","url":null,"abstract":"The description of cytological findings in cerebrospinal fluid (CSF) is very inconsistent in the literature since no generally recognized uniform classification of these findings has been proposed to date. The need for developing such a classification system becomes quite obvious against the background of renaissance CSF cytology is currently experiencing in our country. A precondition sine qua non for developing a uniform classification system is its general applicability and recognition as well as a capacity to establish, using precisely formulated conclusions, the aetiological diagnosis, something quite impossible with today's terminology.\u0000Our draft classification is that used by a team of physicians working previously in the CSF Laboratory of the Department of Neurology of Charles University School of Medicine I in Prague. The classification employed there is based on monitoring pathology in the cytological picture both according to the presence of the prevailing cellular population in CSF and to the presence of activation in elements of lymphocyte and monocyte lines. We were able to combine both criteria into a single viable system expressing the current status of cellular response in CSF. The presence of a pathological cytological finding provides the basis for defining individual cytological CSF syndromes closely related to the etiological diagnosis of the patient, which in the great majority of cases make it possible to formulate the diagnostic conclusion. The classification employed allows to establish the diagnosis in diseases manifesting themselves by at least a mild alteration of the cytological picture. In general, it is useful for classifying inflammatory, neoplastic diseases, inter-meningeal haemorrhage and morphological manifestations of CNS tissue destruction. A distinct advantage is the plausible classification of cytological findings in oligo-cellular CSF specimens which to date has been difficult to make due to the low numbers of cellular elements detected in samples.\u0000In cytological examination of CSF, the parameters evaluated include, in addition to the number of elements, qualitative representation of individual cellular lines. (1-Monografie). When evaluating the monocyte-macrophage system and/or the reticuloendothelial system, attention is focused on the proportions of activated monocytes and, particularly, on the presence of macrophages showing a specific substrate of phagocytosis. It is according to this substrate that macrophages are further divided into erythron-phages, sidero-phages, lipo-phages, lympho-phages, leuko-phages or myco-phages, etc. To visualize a substrate, it is often necessary to use additional staining e.g., staining by Oil Red for lipids, Berlin Blue for iron, etc.\u0000If inter-meningeal haemorrhage is suspected, monitoring of the phagocytosis of red blood cells and haematogenic pigments allows us to determine the approximate age and course of the bleeding. Monitoring of lipo-phagocytosis visualizing the s","PeriodicalId":280856,"journal":{"name":"SunKrist Neurology, Neurosurgery and Stroke Journal","volume":"39 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"126900695","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}