bluuebunny/crossref_metadata_2025_split huggingface dataset:
Intractable Childhood Epilepsy and Maternal Fatigue
Authors: Jan Mohammed M.S. 
Published: December 2014

Background:Mothers of children with intractable epilepsy are generally stressed and experience more emotional problems. Fatigue may affect their productivity, social interactions, and their ability to adequately take care of their children. The objectives were to examine the relationship between intractable childhood epilepsy and maternal fatigue, and explore possible contributing factors.Methods:Sixty-four consecutive mothers of children with intractable epilepsy were identified prospectively. Exclusion criteria included degenerative/metabolic disorders or life threatening illness, such as brain tumors. Fatigue was measured using a standardized 11-item questionnaire, which has been revalidated in an Arabic speaking population.Results:Mothers' ages were 24-45 years (mean 34) and ages of their epileptic children were 1-15 years (mean 6.7). Most children (64%) had epilepsy for >2 years, were on >1 antiepileptic drug (AED) (72%), and had daily seizures (47%). Thirty-four (54%) of the children had motor deficits and 83% had mental retardation (severe in 41%). Twenty-eight (44%) mothers were fatigued. Factors associated with increased maternal fatigue included child's age <2 years (p=0.01), cryptogenic epilepsy (p=0.03), and severe motor deficits (p=0.04). Factors associated with lowered fatigue included performing regular exercise (p=0.006), lack of mental retardation (p=0.01), seizure control (p=0.05), using one AED (p=0.002), infrequent ER visits (p=0.005), and lack of recent hospitalization (p=0.005).Conclusion:Mothers of children with intractable epilepsy are increasingly fatigued. Several correlating factors were identified, mostly related to seizure control, mental and physical handicap. Strategies to manage the problem include proper education, seizure control, participation in regular exercise, social support, and psychological counseling.
A Novel GDAP1 Mutation 439delA is Associated with Autosomal Recessive CMT Disease
Authors: Georgiou Domna-Maria , Nicolaou Paschalis , Chitayat David , Koutsou Pantelitsa , Babul-Hirji Riyana , Vajsar Jiri , Murphy Jillian , Christodoulou Kyproula 
Published: December 2014

Background:Charcot-Marie-Tooth (CMT) disease is the most common form of inherited motor and sensory neuropathy. Based on neurophysiological and neuropathological criteria CMT has been sub-classified into two main types: demyelinating and axonal. Furthermore, it is genetically heterogeneous with autosomal dominant, autosomal recessive (AR) and X-linked modes of inheritance. Thus far, seven genes have been identified in association with the demyelinating AR-CMT disease. We hereby report our clinical and molecular genetic findings in a consanguineous family with AR-CMT.Methods:Two young sisters with AR-CMT and other non-affected family members were clinically and electrophysiologically evaluated and then molecular genetic investigation was carried out in order to identify the pathogenic mutation.Results:Following an initial indication for linkage of the family to the CMT4A locus on chromosome 8, we sequenced the Ganglioside-induced differentiation-associated protein 1 (GDAP1) gene and identified a single nucleotide deletion in exon 3 that is associated with AR-CMT in the family.Conclusion:We identified a novel GDAP1 439delA mutation that is associated with AR-CMT in a consanguineous family of Iranian descent with two affected young girls and a history in other members of the family.
Fibrous Dysplasia of the Skull Base Presenting Acutely in an Adult
Authors: Amoozegar F. , Guberman A. 
Published: December 2014

Fibrous dysplasia (FD) of the bone is an idiopathic disorder in which bone-forming mesenchyme develops abnormally. Here, we describe an unusual case in an adult, with recurrent acute headache and third nerve palsy due to FD of the skull base and low-grade fibrosarcoma.A previously healthy 32-year-old female office clerk, presented with an eight day history of acute-onset, severe, right occipital and retro-orbital continuous headache, associated with nausea and vomiting. She had required dimenhydrinate, acetaminophen with 15 mg codeine, and meperidine with only mild relief of the headache. She also described a 5-day history of right eye ptosis which had progressed to eye closure by the time of presentation. She had otherwise been well, with no systemic or constitutional symptoms and no previous history of
headaches.
Sepsis from Neurofibromatosis
Authors: Tangri Navdeep , Sirhan Shireen , Crelinsten Gordon 
Published: December 2014

Neurofibromatosis Type I or von Recklinghausen’s neurofibromatosis is an autosomal dominant disorder with a high index of spontaneous mutations and extremely varied and unpredictable clinical manifestations. We present a case of sepsis secondary to an infected hematoma, enclosed within a massive neurofibroma.A 42-year-old man presented to the emergency department with a one week history of fever and chills. He reported an increase in pain and size of a growth near his chest. The patient was noted to be febrile on arrival. On physical examination, a very large neurofibroma was seen extending from the right upper chest. Wound and blood cultures were obtained. Computed Tomography (CT) of the thorax revealed a hematoma contained within the large mass.
Pituitary Carcinoma with Subependymal Spread
Authors: Kumar Krishna , Wilson Jefferson R. , Li Qiuyan , Phillipson Ryan 
Published: December 2014

Pituitary carcinomas have been reported to metastasize systemically and, less commonly, along the craniospinal axis. Metastatic lesions have been reported in the cerebral cortex, cerebellum, spinal cord, leptomeninges, cervical lymph nodes, liver, ovaries, and bone. The authors are unaware of any other examples of subependymal metastases of a pituitary carcinoma. We report such a case.Pituitary carcinoma is rare, accounting for roughly 0.2%1,3-5 of all pituitary tumors, with approximately 140 cases reported in the literature. These tumors are associated with a very high mortality, with 66% of patients dying within the first year after diagnosis. Pituitary carcinomas are differentiated from invasive pituitary adenomas by the presence of non-contiguous craniospinal tumor deposits and/or distant systemic metastases. The majority (88%) of these carcinomas prove to be hormone secreting, with prolactin secreting tumors being the most common. Invasive carcinomas evolve from hormone secreting pituitary adenomas after a latency period. Pituitary carcinomas have a predilection for systemic spread. The rate of systemic metastasis approaches 71% for prolactin producing tumors and 57% for ACTH producing tumors. Thirteen percent of tumors demonstrate both systemic and craniospinal patterns of metastatic spread.
Progress in Clinical Neurosciences: Stroke Recovery and Rehabilitation
Authors: Teasell Robert , Bayona Nestor , Salter Katherine , Hellings Chelsea , Bitensky Jamie 
Published: December 2014

ABSTRACT:Background:Recent literature has provided new insights into the role of rehabilitation in neurological recovery post-stroke. The present review combines results of animal and clinical research to provide a summary of published information regarding the mechanisms of neural recovery and impact of rehabilitation.Methods:Plasticity of the uninjured and post-stroke brain is examined to provide a background for the examination of brain reorganization and recovery following stroke.Summary and Conclusions:Recent research has confirmed many of the basic underpinnings of rehabilitation and provided new insight into the role of rehabilitation in neurological recovery. Recovery post stroke is dependent upon cortical reorganization, and therefore, upon the presence of intact cortex, especially in areas adjacent to the infarct. Exposure to stimulating and complex environments and involvement in tasks or activities that are meaningful to the individual with stroke serves to increase cortical reorganization and enhance functional recovery. Additional factors associated with neurological recovery include size of stroke lesion, and the timing and intensity of therapy.
Saccadic Adaptation in Chiari Type II Malformation
Authors: Salman Michael S. , Sharpe James A. , Eizenman Moshe , Lillakas Linda , To Teresa , Westall Carol , Steinbach Martin J. , Dennis Maureen 
Published: December 2014

Background:Saccadic adaptation corrects errors in saccadic amplitude. Experimentally-induced saccadic adaptation provides a method for studying motor learning. The cerebellum is a major participant in saccadic adaptation. Chiari type II malformation (CII) is a developmental deformity of the cerebellum and brainstem that is associated with spina bifida. We investigated the effects of CII on saccadic adaptation.Method:We measured eye movements using an infrared eye tracker in 21 subjects with CII (CII group) and 39 typically developing children (control group), aged 8-19 years. Saccadic adaptation was induced experimentally using targets that stepped horizontally 12º to the right and then stepped backward 3º during saccades.Results:Saccadic adaptation was achieved at the end of the adaptation phase in participants in each group. Saccadic amplitude gain decreased by 6.9% in the CII group and 9.3% in the control group. The groups did not differ significantly (p = 0.27). Amplitude gain reduction was significantly less in the CII participants who had multiple shunt revisions. Regression analyses revealed no effects of spinal lesion level, presence of nystagmus, or cerebellar vermis dysmorphology on saccadic adaptation.Conclusion:The neural circuits involved in saccadic adaptation appear to be functionally intact in CII.
Susac Syndrome with Frontal Intermittent Rhythmic Delta Activity (FIRDA)
Authors: Woolridge Danielle , Stefanelli Mark , Hoppe Barbara 
Published: December 2014

Background:Susac syndrome is a rare condition involving the brain, retina, and cochlea. Electroencephalogram (EEG) findings from published case reports show mainly generalized slowing.Case report:A 30-year-old man presented with acute onset of superior vision loss, unsteady gait, and hearing loss. This was accompanied by short-term memory loss and behavioral and mood changes. MRI showed multiple white matter hyperintensities. The EEG showed frontal intermittent rhythmic delta activity. A diagnosis of Susac syndrome was made and treatment with methylprednisolone, ASA, and Nimodipine was instituted. At one-year follow-up, bilateral hearing loss, mild visual impairment, and mood changes were still apparent.Conclusion:Frontal intermittent rhythmic delta activity can be seen in Susac syndrome.
West Nile Virus Encephalomyelitis with Polio-like Paralysis & Nigral Degeneration
Authors: Schafernak Kristian T. , Bigio Eileen H. 
Published: December 2014

Background:Patients infected with West Nile virus (WNV) may develop acute neurologic disease, which can be severe or even fatal, including WNV meningitis, encephalitis, and an irreversible acute flaccid paralysis or poliomyelitis-like syndrome. Movement disorders have also been described.Report:We report combined neuronal loss, gliosis, and neurofibrillary tangle formation in the substantia nigra of a 41-year-old man with a history of WNV encephalomyelitis and poliomyelitis-like paralysis.Conclusion:Clinically our patient did not display parkinsonism, however, it is interesting to speculate whether, in the absence of the residual subacute poliomyelitis-like syndrome, the neuropathologic findings could have eventually evolved clinically into WNV-associated postencephalitic parkinsonism.
Chronic Cluster-Like Headache Secondary to an Epidermoid Clival Lesion
Authors: Massie Rami , Sirhan Denis , Andermann Frederick 
Published: December 2014

Cluster headache is recognized by the International Headache Society as a primary headache disorder, consisting of seasonal and daily attacks of severe unilateral periorbital pain accompanied by autonomic symptoms. As with other primary headache disorders, intracranial lesions can rarely mimic cluster headaches, in particular if it presents in an atypical fashion. We report a patient with chronic cluster-like headache secondary to a clival based epidermoid cyst. This is the first such association reported in the literature.A 39-year-old man with no significant past medical history and no current medications was referred with a three-year history of strictly right-sided headaches. Two to three times daily, he suffered attacks of excruciating pressure-like pain in the periorbital and frontal area on the right. These lasted between 10 and 90 minutes and occasionally woke him from sleep. They
were always accompanied by numbness of the upper part of his face, increased lacrimation, rhinorrhea and ptosis on that side. Occasionally, he had nausea and vomiting as well. Since the
onset of symptoms, attacks occurred almost daily and never remitted for more than four weeks. He tried methysergide, gabapentin, carbamazepine, lithium carbonate and corticosteroids without success. Later, his attacks have occasionally involved the left side.
Uveitis Associated with Primary Angiitis of the Central Nervous System
Authors: Woolfenden A.R. , Wade N.K. , Tang P. , Chalmers A. , Reid G. , Teal P.A. 
Published: December 2014

Background:In Primary Angiitis of the Central Nervous System (PACNS), disease is typically limited to the brain and spinal cord although other organs may be affected. Uveitis is occasionally seen in systemic vasculitides but is not a recognized manifestation of PACNS. We describe two patients who developed PACNS following the onset of uveitis.Case Descriptions:Case 1-A 47-year-old male suffered multiple TIAs and left pontine stroke shortly after two episodes of diffuse uveitis. A cerbral angiogram demonstrated multiple caliber changes within several intracranial vessels. Cyclophosphamide was added after his stroke occurred during pulse methylprednisolone therapy. Case 2- A 35-year-old male suffered a spinal cord TIA followed by hemispheric and brainstem infarctions two months after an episode of uveitis and Bell's palsy treated with oral prednisone. A cerebral angiogram demonstrated multiple caliber changes within several intracranial vessels. He was successfully treated with oral prednisone and cyclophosphamide.Conclusions:Uveitis should be considered a recognized feature of PACNS. Combination immunosuppressive therapy with prednisone and cyclophosphamide may be necessary for successful treatment.
A Retrospective Study of Multiple Sclerosis in Siriraj Hospital, Bankok, Thailand
Authors: Siritho Sasitorn , Prayoonwiwat Naraporn 
Published: December 2014

Objective:To determine the demographic and clinical data of Thai multiple sclerosis (MS) patients.Methods:A retrospective study of 72 patients attending the MS clinic at Siriraj Hospital, Mahidol University, Thailand between January 1997 and June 2004.Results:Fifty-eight patients (81%) were classified as clinically definite MS, 5 (7%) as Devic's syndrome, and 9 (13%) as possible MS. There were 62 females (86%) and 10 males (14%). Age at onset was 33 ± 12 years with a mean relapse rate of 1.2 ± 1.0 attacks per annum. None had a family history of MS. Visual impairment (53%) was the most common manifestation. Only 16% had classic (western) form of MS. Positive oligoclonal bands were found in 21%, visual evoked potentials with a typical delayed latency in 28%. MRI brain lesions compatible with McDonald's criteria were seen in only 24%, and spinal MRI brain longer than 2 vertebral bodies in 62%. The mean Kurtzke's Expanded Disability Status Scale (EDSS) was 3.0.Conclusion:Thai MS patients had much more female occurrence, no family history, common optico-spinal form, long spinal MRI lesions and low positive CSF oligoclonal bands.
Factors Associated with Health-Related Quality of Life in Multiple Sclerosis
Authors: Hopman Wilma M. , Coo Helen , Edgar Cathy M. , McBride Evelyn V. , Day Andrew G. , Brunet Donald G. 
Published: December 2014

Background:Much research has gone into the assessment of function and health-related quality of life (HRQOL) in those with multiple sclerosis (MS). The Medical Outcomes Study 36-item short form (SF-36) has been widely used in this population but current recommendations are that it be supplemented with condition-specific measures such as the MS Quality of Life Inventory (MSQLI) and the MS Functional Composite (MSFC). The goal of the baseline component of this study was the measurement of generic and condition-specific HRQOL, and the identification of factors associated with these outcomes.Methods:HRQOL was assessed at the baseline phase of a longitudinal study. Participants completed the assessment during their regularly scheduled clinic visit.Results:300 of 387 eligible patients agreed to participate, for a response rate of 77.5%. Age ranged from 22 to 77 years, while duration of MS ranged from 1 to 47 years. Mean SF-36 scores were well below age- and sex-adjusted normative data. Only 240 completed the MSFC component. Higher EDSS, use of support services, pain medications, clinical depression and antidepressant use were associated with poorer HRQOL, while higher income and education were associated with better HRQOL.Conclusions:There is a substantial burden of illness associated with MS when compared to normative HRQOL data. This was more pronounced in physically- than in mentally-oriented domains. Assessment of HRQOL provides a valuable complement to the EDSS by providing information about the patient perception of function and HRQOL beyond that which can be obtained by physical assessment alone.
Headache During Gestation: Evaluation of 1101 Women
Authors: Melhado Eliana M. , Maciel Jayme A. , Guerreiro Carlos A.M. 
Published: December 2014

Objective:The purpose of this study was to evaluate the presence of headache in women with a previous history or new-onset headache during the current gestation, classify the findings, and describe the clinical characteristics and outcome of the headache.Methods:From January/1998 to June/2002 we prospectively evaluated 1101 pregnant women (12-45 years old), with a history of headache, at two prenatal clinics and an inpatient obstetric public hospital. Women were interviewed using a semi-structured questionnaire during the first, second, and third gestation trimesters and immediately after delivery. All interviews were conducted by one of the authors, using the International Headache Society Classification (IHSC-2004).Results:In 1029 women there was a history of headache prior to the current pregnancy, 36 (3.4%) women first experienced headache during this pregnancy and 40 patients experienced new types of headache. In these 76 patients with new onset headache during pregnancy, 40 had secondary headache (52.6%), 31 had primary headache (40.8%), and 5 had headache not classified elsewhere (6.6%). According to IHSC- 2004 criteria, we found migraine in 848/1029 women (82.4%), with pregestational headache.Conclusions:Most of the pregnant women presented with headache, mainly in migraine, prior to pregnancy, and most of the headaches improved or disappeared during the second and third gestation trimester. In a relatively small number of pregnant women, a new type of headache started during the gestation.
Ataxia and the Role of Antigliadin Antibodies
Authors: Wong D. , Dwinnel M. , Schulzer M. , Nimmo M. , Leavitt B. R. , Spacey S. D. 
Published: December 2014

Background:Although it is acknowledged that patients with celiac disease can develop neurological complications such as ataxia, the association of antigliadin antibodies in the etiology of sporadic ataxia and the usefulness of this testing in diagnosis of ataxia is controversial.Methods:We investigated this association by testing for the presence of IgG and IgA antigliadin antibodies in 56 ataxic patients and 59 controls. The ataxia patients were subsequently classified into three groups: sporadic, hereditary and MSA.Results:Of the total ataxic patients, 6/56 (11%) were positive for either IgG or IGA antigliadin antibodies compared to the controls of which 5/59 (8%) were positive (p = 0.68). In a subgroup analysis, 4/29 (14%) of the samples in the sporadic ataxic subgroup were positive for antigliadin antibodies (IgG or IgA) compared to control (p = 0.44). Similar negative results were found in the remaining subgroup analyses.Conclusions:These results do not support an association between antigliadin antibodies and sporadic ataxias.
Evaluating the Development of a SPECT Protocol in a Canadian Epilepsy Unit
Authors: Burneo J. G. , Vezina W. , Romsa J. , Smith B. J. , McLachlan R. S. 
Published: December 2014

Background:Functional neuroimaging can address some challenges of seizure localization, and sometimes preclude the need for EEG recording using intracranial electrodes. Ictal Single Photon Emission Computed Tomography (SPECT) has developed into an important tool in the presurgical evaluation of patients with medically-intractable localization-related epilepsy. The purpose of the study was to determine whether the development of a programme using trained nurses to perform ictal injections enabled a more efficient delivery of radiopharmaceuticals and therefore a greater sensitivity and specificity of outcome.Methods:In our epilepsy unit, nursing staff inject 99mTc-HMPAO at bedside, during or at seizure onset. Brain SPECT is performed later on a gamma camera.Results:Since the implementation of the new protocol (February 2005), 57 scans have been performed: 22 ictal and 35 interictal. Latency of ictal injection was found to be 5-40 seconds (mean 19.7 sec, standard deviation (SD) 10.4). Only 20% of reconstituted radiopharmaceutical vials were not used. Contamination rate was nil. Sixty three percent of SPECT studies were concordant with standard presurgical evaluation.Conclusion:The latency of injections and the percentage of unused vials indicated an efficient and effective protocol compared to the literature. Our results show that ictal SPECT can be a safe, noninvasive procedure performed on a routine basis in the epilepsy unit when appropriately trained support staff are incorporated into a structured multidisciplinary programme.
Meta-Analysis of the ACE Gene Polymorphism in Cerebral Infarction
Authors: Tao Hong-miao , Shao Bei , Chen Guo-zhong 
Published: December 2014

Background:The angiotensin-1 converting enzyme (ACE) gene is known to have two polymorphic alleles insertion/deletion(I/D). People with the DD genotype have been shown to be at greater risk of cerebral infarction, but only in some studies. Identification of cerebral infarction susceptibility genes and quantification of associated risks have been hampered by conflicting results from underpowered case-control studies. This meta-analysis was made to look specifically into the genetics of cerebral infarction among Han Chinese population.Methods:Genetic associations studies published from January 1, 1990 to December 30, 2007 were collected from databases of MEDLINE, EMBASE, CBM and CNKI. Data were extracted using standardised forms and pooled odds ratios (ORs) with 95% confidence intervals (CIs) were calculated.Results:Twenty-nine original case-control studies of Han Chinese population, comprising 3654 patients with cerebral infarction and 3058 controls were included in the meta-analysis. Using the random effects model, the pooled ORs of ACE DD genotype VS ID+ II was 1.91 (95% CI 1.56 to 2.34, P<0.00001).Conclusions:These data suggest that the ACE DD genotype may be a risk factor for cerebral infarction in Han Chinese population. A large scale case-control study is needed to clarify the functional effect of the polymorphism of the ACE I/D gene in the pathogenesis of cerebral infarction in Han Chinese population.