PubTransformer

A site to transform Pubmed publications into these bibliographic reference formats: ADS, BibTeX, EndNote, ISI used by the Web of Knowledge, RIS, MEDLINE, Microsoft's Word 2007 XML.

Nervous System Diseases - Top 30 Publications

Whole genome sequencing identifies a novel ALMS1 gene mutation in two Chinese siblings with Alström syndrome.

Alström syndrome is a rare multi-systemic disorder with a broad spectrum of symptoms. This syndrome is characterized by childhood retinal degeneration; sensorineural hearing loss; obesity; type 2 diabetes mellitus; cardiomyopathy; systemic fibrosis; and pulmonary, hepatic, and renal failure.

RIZ1 and histone methylation status in pituitary adenomas.

RIZ1 displays strong tumor-suppressive activities, which has a potential histone methyltransferase activity. The objective of the study was to evaluate the level and the methylation status of RIZ1 and analyze its association with clinicopathological features and the histone in the pituitary adenomas. We found that RIZ1-positive cases were 11/50 and H-Scores 22.75 ± 11.83 in invasive pituitary adenomas and 26/53 and 66.3 ± 21.7 in non-invasive pituitary adenomas (χ(2) = 8.182, p = 0.004). RIZ1 and C-myc showed the opposite trend in these cases. The methylation levels of RIZ1 were more than 50% in 30.4% (7/23) CpG sites through MALDI-TOF Mass array. There was significant difference (p < 0.01) in 4 CpG sites between invasive pituitary adenoma group and non-invasive pituitary adenoma group; furthermore, the relieved methylation levels of H3K4/H3K9 and enhanced methylation levels of H3K27 in the patients' serum were found. Furthermore, there was statistic difference of H3K4 and H3K27 methylation between invasive pituitary adenoma and non-invasive pituitary adenoma group (p < 0.01). The average progression-free survival in high RIZ1 group was 52.63 ± 7.62 months and 26.06 ± 4.23 months in low RIZ1 group (p < 0.05). Promoter region methylation of RIZ1 may play an important role in the epigenetic silencing of RIZ1 expression in pituitary adenomas, which may translate into important diagnostic and therapeutic applications.

Case reports of juvenile GM1 gangliosidosisis type II caused by mutation in GLB1 gene.

Type II or juvenile GM1-gangliosidosis is an autosomal recessive lysosomal storage disorder, which is clinically distinct from infantile form of the disease by the lack of characteristic cherry-red spot and hepatosplenomegaly. The disease is characterized by slowly progressive neurodegeneration and mild skeletal changes. Due to the later age of onset and uncharacteristic presentation, diagnosis is frequently puzzled with other ataxic and purely neurological disorders. Up to now, 3-4 types of GM1-gangliosidosis have been reported and among them type I is the most common phenotype with the age of onset around 6 months. Various forms of GM1-gangliosidosis are caused by GLB1 gene mutations but severity of the disease and age of onset are directly related to the position and the nature of deleterious mutations. However, due to its unique genetic cause and overlapping clinical features, some researchers believe that GM1 gangliosidosis represents an overlapped disease spectrum instead of four distinct types.

Would a Large tPA Trial for Those 4.5 to 6.0 Hours from Stroke Onset Be Good Value for Information?

To quantify the potential value of new research in patients treated with thrombolytic treatment (tissue-type plasminogen activator [tPA]) in the 4.5- to 6.0-hour time window after stroke onset and to determine the optimal size of a future trial using value of information analysis.

Signal transducer and activator of transcription 3 (STAT3) promoter methylation and expression in pituitary adenoma.

Pituitary adenoma (PA) is a benign brain tumor that can cause neurological, endocrinological and ophthalmological aberrations. Till now there is a need to identify factors that can influence the tumor invasiveness and recurrence. The aim of this study was to evaluate the associations between the signal transducer and activator of transcription 3 (STAT3) promoter methylation, mRNA expression and the invasiveness or recurrence of PAs and patient clinical characteristics.

Mortality from Amyotrophic Lateral Sclerosis and Parkinson's Disease Among Different Occupation Groups - United States, 1985-2011.

Amyotrophic lateral sclerosis (ALS) and Parkinson's disease, both progressive neurodegenerative diseases, affect >1 million Americans (1,2). Consistently reported risk factors for ALS include increasing age, male sex, and cigarette smoking (1); risk factors for Parkinson's disease include increasing age, male sex, and pesticide exposure, whereas cigarette smoking and caffeine consumption are inversely associated (2). Relative to cancer or respiratory diseases, the role of occupation in neurologic diseases is much less studied and less well understood (3). CDC evaluated associations between usual occupation and ALS and Parkinson's disease mortality using data from CDC's National Institute for Occupational Safety and Health (NIOSH) National Occupational Mortality Surveillance (NOMS), a population-based surveillance system that includes approximately 12.1 million deaths from 30 U.S. states.* Associations were estimated using proportionate mortality ratios (PMRs), standardizing indirectly by age, sex, race, and calendar year to the standard population of all NOMS deaths with occupation information. Occupations associated with higher socioeconomic status (SES) had elevated ALS and Parkinson's disease mortality. The shifts in the U.S. workforce toward older ages and higher SES occupations(†) highlight the importance of understanding this finding, which will require studies with designs that provide evidence for causality, detailed exposure assessment, and adjustment for additional potential confounders.

Amyotrophic Lateral Sclerosis.

Pramipexole-induced limb dystonia and its associated complex regional pain syndrome in idiopathic Parkinson's disease: A case report.

This case may be due to basal ganglia dysfunction, which was probably caused by abnormal activation of dopamine 1-like receptor (D1R) boosted by pramipexole binding on dopamine 3-like receptor (D3R) in a situation where D3R was overexpressed by the chronic treatment of L-dopa.

Effectiveness of corticosteroid injections in adhesive capsulitis of shoulder: A meta-analysis.

Primary adhesive capsulitis is mainly characterized by spontaneous chronic shoulder pain and the gradual loss of shoulder motion. The main treatment for adhesive capsulitis is a trial of conservative therapies, including analgesia, exercise, physiotherapy, oral nonsteroidal anti-inflammation drugs, and intra-articular corticosteroid injections. Previously, it was reported that intra-articular corticosteroid lead to fast pain relief and improvement of range of motion (ROM). The objective of this study was to determine whether corticosteroid injections would lead to better pain relief and greater improvement in ROM.

Formation of the calcarine sulcus: a potential marker to predict the progression in utero of isolated mild fetal ventriculomegaly.

Our previous study confirmed the negative association between the development of calcarine sulcus and the width of lateral ventricles. The purpose of current study was to evaluate the reliability of calcarine sulcus depth in the 2nd trimester to predict the prenatal enlargement of lateral ventricle in fetuses with isolated mild fetal ventriculomegaly (IMVM).This study used a retrospective cohort study design. A total of 97 pregnant women with IMVM diagnosed between 20 and 26 weeks' gestation returned for a 2nd examination at 30 to 32 weeks. Lateral ventricular size and calcarine sulcus depth were acquired from ultrasonography and magnetic resonance imaging (MRI) scans, respectively. Progression was defined as the process of developing from a lower group toward a higher (<10 mm, 10-12 mm, 13-15 mm, and ≥16 mm).Significant correlation was observed between calcarine sulcus depth and ventricular measurements at the 2nd scan (r = -0.71, P < .0001). Receiver-operating characteristic curves showed that calcarine sulcus depth (area under curve [AUC] = 0.83, 95% confidence interval [CI] = 0.74-0.92) had the best diagnostic performance in predicting the prenatal progression, as compared with lateral ventricle width (AUC = 0.69, 95%CI = 0.54-0.84) and gestational age (AUC = 0.70, 95%CI = 0.57-0.83) at the initial scan. The cutoff value for calcarine sulcus depth was 3.3 mm, with the corresponding sensitivity and specificity were 75.0% and 81.3%, respectively. Multivariate analyses showed that calcarine sulcus depth ≥3.3 mm (odds ratio = 0.09, 95%CI = 0.02-0.38, P = .001) was an independent predictor of the prenatal progression.For IMVM, calcarine sulcus depth might be a powerful marker to identify subjects at higher risk for worse prenatal progression.

Cerebrovascular risk factors for patients with cerebral watershed infarction: A case-control study based on computed tomography angiography in a population from Southwest China.

To determine cerebrovascular risk factors for patients with cerebral watershed infarction (CWI) from Southwest China.Patients suffering from acute ischemic stroke were categorized into internal CWI (I-CWI), external CWI (E-CWI), or non-CWI (patients without CWI) groups. Clinical data were collected and degrees of steno-occlusion of all cerebral arteries were scored. Arteries associated with the circle of Willis were also assessed. Data were compared using Pearson chi-squared tests for categorical data and 1-way analysis of variance with Bonferroni post hoc tests for continuous data, as appropriate. Multivariate binary logistic regression analysis was performed to determine independent cerebrovascular risk factors for CWI.Compared with non-CWI, I-CWI had higher degrees of steno-occlusion of the ipsilateral middle cerebral artery, ipsilateral carotid artery, and contralateral middle cerebral artery. E-CWI showed no significant differences. All the 3 arteries were independent cerebrovascular risk factors for I-CWI confirmed by multivariate binary logistic regression analysis. I-CWI had higher degrees of steno-occlusion of the ipsilateral middle cerebral artery compared with E-CWI. No significant differences were found among arteries associated with the circle of Willis.The ipsilateral middle cerebral artery, carotid artery, and contralateral middle cerebral artery were independent cerebrovascular risk factors for I-CWI. No cerebrovascular risk factor was identified for E-CWI.

Long-term follow-up of patients with intestinal neuronal dysplasia type B: Protocol for an observational, ambispective, and comparative study.

Intestinal neuronal dysplasia type B (IND-B) is a pathological entity of the group of gastrointestinal neuromuscular diseases characterized by complex alterations in the enteric nervous system. Patients typically present with intestinal constipation, sometimes complicated by episodes of intestinal obstruction. The 2 therapeutic modalities include conservative clinical treatment and surgical treatment. Nevertheless, the results of the different therapeutic modalities are conflicting, and follow-up studies are scarce and include only a limited number of patients.This is a single-center, ambispective, observational, longitudinal, and comparative follow-up study to compare the results of conservative clinical and surgical treatments in patients with IND-B. Sixty-three patients (<15 years) who received this diagnosis will be included. These patients will be divided into 2 groups according to the type of treatment that they previously received: 29 patients in the surgical treatment group and 34 patients in the conservative treatment group. Previous data will be recovered from the medical records of the study patients, including signs and symptoms present at the time of diagnosis, particularly those related to bowel habits, and treatments undergone. Later, these patients will be invited to participate in a semistructured interview during which aspects related to the long-term functional results of the bowel habit and quality of life will be investigated after a minimum interval of 5 years posttreatment.This project aims to assess the long-term clinical evolution of patients diagnosed with IND-B and compare the results obtained following conservative clinical and surgical treatments.This protocol will provide sufficient data to analyze the long-term clinical outcome obtained through the 2 treatment modalities proposed for patients with IND-B.

A multiparameter model predicting in-hospital mortality in malignant cerebral infarction.

The early identification of patients with large hemisphere infarctions (LHIs) at risk of fatal brain edema may result in better outcomes. A quantitative model using parameters obtained at admission may be a predictor of in-hospital mortality from LHI.This prospective study enrolled all patients with LHI involving >50% of the middle cerebral artery (MCA) admitted to our neurological intensive care unit within 48 hours of symptom onset. Early clinical and radiographic parameters and the baseline CHADS2 score (congestive heart failure, hypertension, age ≥ 75 years, diabetes mellitus, stroke [double weight]) were analyzed regarding their ability to predict patient outcomes.Seventy-seven patients with LHIs were identified, 33 (42.9%) with complete MCA infarction (CMCA), and 44 (57.1%) with incomplete MCA infarction (IMCA). The predictors of CMCA score included: >1/3 early hypodensity in computed tomography findings, hyperdense MCA sign, brain edema, initial National Institutes of Health Stroke Scale (NIHSS) score ≥17, and stroke in progression during the 1st 5 days of admission. The cutoff CMCA score was 2, with a sensitivity of 81.8% and specificity of 70.5%. Mortality score 1, used for predicting in-hospital mortality from LHI, included CMCA and CHADS2 scores ≥4 (sensitivity 100.0%, specificity 57.4%), and mortality score 2 included CMCA and CHADS2 scores ≥4, and NIHSS score ≥26, during the 1st 5 days (sensitivity 100.0%, specificity 91.7%).Patients qualifying for a mortality score of 2 were at high-risk of in-hospital mortality from LHI. These findings may aid in identifying patients who may benefit from invasive therapeutic strategies, and in better describing the characteristics of those at risk of mortality.

Association of ventricular arrhythmia and in-hospital mortality in stroke patients in Florida: A nonconcurrent prospective study.

Stroke remains one of the leading causes of death in the United States. Current evidence identified electrocardiographic abnormalities and cardiac arrhythmias in 50% of patients with an acute stroke. The purpose of this study was to assess whether the presence of ventricular arrhythmia (VA) in adult patients hospitalized in Florida with acute stroke increased the risk of in-hospital mortality.Secondary data analysis of 215,150 patients with ischemic and hemorrhagic stroke hospitalized in the state of Florida collected by the Florida Agency for Healthcare Administration from 2008 to 2012. The main outcome for this study was in-hospital mortality. The main exposure of this study was defined as the presence of VA. VA included the ICD-9 CM codes: paroxysmal ventricular tachycardia (427.1), ventricular fibrillation (427.41), ventricular flutter (427.42), ventricular fibrillation and flutter (427.4), and other - includes premature ventricular beats, contractions, or systoles (427.69). Differences in demographic and clinical characteristics and hospital outcomes were assessed between patients who developed versus did not develop VA during hospitalization (χ and t tests). Binary logistic regression was used to estimate unadjusted and adjusted odds ratios and 95% confidence intervals (CIs) between VA and in-hospital mortality.VA was associated with an increased risk of in-hospital mortality after adjusting for all covariates (odds ratio [OR]: 1.75; 95% CI: 1.6-1.2). There was an increased in-hospital mortality in women compared to men (OR: 1.1; 95% CI: 1.1-1.14), age greater than 85 years (OR: 3.9, 95% CI: 3.5-4.3), African Americans compared to Whites (OR: 1.1; 95% CI: 1.04-1.2), diagnosis of congestive heart failure (OR: 2.1; 95% CI: 2.0-2.3), and atrial arrhythmias (OR: 2.1, 95% CI: 2.0-2.2). Patients with hemorrhagic stroke had increased odds of in-hospital mortality (OR: 9.0; 95% CI: 8.6-9.4) compared to ischemic stroke.Identifying VAs in stroke patients may help in better target at risk populations for closer cardiac monitoring during hospitalization. The impact of implementing methods of quick assessment could potentially reduce VA associated sudden cardiac death.

A rare diaphragm in the common carotid artery: A first case report and literature review.

We present a case of common carotid artery (CCA) diaphragm. To our knowledge, this is the first reported case in the imaging literature.

Cryptococcal meningitis after transnasal transsphenoidal pituitary microsurgery of ACTH-secreting pituitary adenoma: A case report.

Microbial infection should be regarded in the differential diagnosis of neurosurgical complications after transnasal transsphenoidal pituitary microsurgery, albeit cryptococcal meningitis is rare. This article will discuss the risk factors of cryptococcal meningitis in patients underwent transnasal transsphenoidal pituitary microsurgery, and summary the potential origins of infection.

Association of Positive Airway Pressure With Cardiovascular Events and Death in Adults With Sleep Apnea: A Systematic Review and Meta-analysis.

Sleep apnea (obstructive and central) is associated with adverse cardiovascular risk factors and increased risks of cardiovascular disease. Positive airway pressure (PAP) provides symptomatic relief, whether delivered continuously (CPAP) or as adaptive servo-ventilation (ASV), but the associations with cardiovascular outcomes and death are unclear.

Orbital fractures treated in Auckland from 2010-2015: review of patient outcomes.

The purpose of this study was to review patient outcomes from surgical reconstruction of isolated orbital fractures, performed by the Auckland District Health Board (ADHB) Oral and Maxillofacial Surgery service (OMFS), from 2010 to 2015. In particular, we wished to assess titanium as an orbital reconstructive material and compare outcomes with the international literature.

The role of acromioplasty when repairing rotator cuff tears-no difference in pain or functional outcome at 24 months in a cohort of 2,441 patients.

The role of acromioplasty with rotator cuff repair remains unclear. This study aims to test the null hypothesis-that acromioplasty in conjunction with rotator cuff repair has no effect on improvement in pain or shoulder function at two years follow up.

Spatial Entropy Pursuit for Fast and Accurate Perimetry Testing.

To propose a static automated perimetry strategy that increases the speed of visual field (VF) evaluation while retaining threshold estimate accuracy.

Patient-reported outcomes and survival in multiple sclerosis: A 10-year retrospective cohort study using the Multiple Sclerosis Impact Scale-29.

There is increasing emphasis on using patient-reported outcomes (PROs) to complement traditional clinical outcomes in medical research, including in multiple sclerosis (MS). Research, particularly in oncology and heart failure, has shown that PROs can be prognostic of hard clinical endpoints such as survival time (time from study entry until death). However, unlike in oncology or cardiology, it is unknown whether PROs are associated with survival time in neurological diseases. The Multiple Sclerosis Impact Scale-29 (MSIS-29) is a PRO sensitive to short-term change in MS, with questions covering both physical and psychological quality of life. This study aimed to investigate whether MSIS-29 scores can be prognostic for survival time in MS, using a large observational cohort of people with MS.

Two-Year Outcome after Endovascular Treatment for Stroke.

Fourth ventricule epidermoid cyst: about a case.

Epidermoid cysts are rare benign tumors developed by ectodermic inclusions. They are usually located at the level of the pontocerebellar angle, the parasellar region and the temporal fossa. They exceptionally develop at the level of the fourth ventricle We report the case of a 47-year old woman admitted for intracranial hypertension syndrome associated with walking disorders. The diagnosis of fourth ventricle epidermoid cyst was evoked based on diffusion MRI data then confirmed intraoperatively and by histologic examination. Subtotal surgical excision was performed due to capsule adhesion to the upper part of the V4 floor. After a 36-month follow-up, the patient showed no signs of tumor recurrence.

What factors influence the average length of stay among stroke patients in a Nigerian tertiary hospital?

Increased emphasis is being laid on ensuring that health resources are efficiently utilized, especially in resource-constrained settings such as in Nigeria. One of the main indices of how efficiently a health institution is being run is Length of Stay (LOS), which is likely to be higher in chronic diseases such as stroke and diabetes. Stroke is a chronic disease that is currently on the rise in Low and Middle income countries (LMICs) who are also characterized by constraint of health resources. This study seeks to determine the LOS of stroke patients as well as factors that affect it.

Maxillofacial fractures in a budding teaching hospital: a study of pattern of presentation and care.

Previous reports indicated that there is geographic and sociodemographic variation in the epidemiology of maxillofacial fractures. Audit of maxillofacial injuries managed at any institution is therefore necessary to understand the trends and proffer strategies for prevention. We therefore embarked on this study to determine the pattern of maxillofacial fractures and concomitant injuries in our institution.

Imaging of complicated frontal sinusitis.

Complications occur in 3% of the cases of frontal sinusitis. These are mainly oculo-orbital, intracranial and osteomyelitis. Our aim is to describe the contribution of different imaging modalities in the diagnosis of these complications and their post-treatment monitoring. within a 15 years period (2000-2014), 10 patients with complicated frontal sinusitis were included into this retrospective study. 10 patients (9 males) aged 9 to 70 year old (mean 28). Two of these patients (20%) had a history of craniofacial trauma. Frontal headache was present in all cases (100%), frontal swelling in 8 cases (80%) and unilateral palpebral edema in 3 cases (30%). A CT scan of the face and brain was performed in all cases and revealed frontal osteomyelitis in 6 cases (60%), extradural empyema in 3 cases (33%), intracranial frontal abscess in 2 cases (20%) and occulo-orbital complications in 3 cases (30%). Magnetic resonance imaging was performed in one patient and demonstrated thrombosis of the upper longitudinal sinus. 40% of our patients associated 2 complications. Cross-sectional imaging is important in early and accurate diagnosis of complicated frontal sinusitis.

Wilson's disease and diagnostic conundrum in a low income country.

Wilson's disease is a well-known leading cause of chronic liver disease in children. However it may remain undiagnosed in a resource limited setting for a long period. We describe a six year male child diagnosed Wilson's disease with extreme elevation of liver enzymes which is not reported earlier. The diagnosis was also baffling because of inconsistency of other laboratory parameters.

Microstructural Crimp of the Lamina Cribrosa and Peripapillary Sclera Collagen Fibers.

Although collagen microstructural crimp is a major determinant of ocular biomechanics, no direct measurements of optic nerve head (ONH) crimp have been reported. Our goal was to characterize the crimp period of the lamina cribrosa (LC) and peripapillary sclera (PPS) at low and normal IOPs.

Comparison of the Retinal Microvascular Density Between Open Angle Glaucoma and Nonarteritic Anterior Ischemic Optic Neuropathy.

To compare optical coherence tomography angiography (OCT-A) retinal vasculature measurements between nonarteritic anterior ischemic optic neuropathy (NAION) and open angle glaucoma (OAG) with altitudinal hemifield visual field defects.

Wayfinding and Glaucoma: A Virtual Reality Experiment.

Wayfinding, the process of determining and following a route between an origin and a destination, is an integral part of everyday tasks. The purpose of this study was to investigate the impact of glaucomatous visual field loss on wayfinding behavior using an immersive virtual reality (VR) environment.