Abstract：
:There is an ever-growing need for molecular biomarkers in assessing clinical course and diagnosing neuromuscular disorders, as well as in monitoring drug therapy. With the development of high throughput techniques, there has been an acceleration in the discovery of potential biomarkers. It is quite easy to find potential candidates, but difficult to validate them and translate into a clinical setting. Neuromuscular diseases (NMD) are a major challenge in terms of finding potential molecular biomarkers, mainly because of their heterogeneous aetiology and variability in phenotype, their as yet incompletely understood pathophysiology, and their slow clinical progression. Furthermore, it is challenging to assemble a large cohort of patients, as many NMDs are rare diseases. In this literature review, we provide an update on the latest discoveries in DNA, RNA, miRNA, epigenetic, protein, metabolic and cellular biomarkers for NMD. The advantages and potential difficulties of clinical application and the role of identification of biomarker panels are discussed. We have especially sought to highlight translational biomarkers which can be easily transferred to the clinic, where they may eventually present possible future therapies related to molecular biomarker discoveries.
journal_name
Neurol Neurochir Poljournal_title
Neurologia i neurochirurgia polskaauthors
Mroczek M,Machoń L,Filipczyńska Idoi
10.5603/PJNNS.a2019.0023subject
Has Abstractpub_date
2019-01-01 00:00:00pages
173-180issue
3eissn
0028-3843issn
1897-4260pii
VM/OJS/J/63172journal_volume
53pub_type
杂志文章,评审abstract：:Contemporary experience and results of clinical trials concerning dopamine agonist application in the treatment of many different diseases (apart from Parkinson's disease) are presented in the paper. A basic clinical recommendation for agonists is restless legs syndrome. In this syndrome almost all agonists give a con...
journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章,评审
doi：
更新日期：2007-03-01 00:00:00
abstract：:A statistical analysis of CSF lactate concentration and CSF pH and PCO2 was performed. The values were obtained from 211 samples taken from 76 neurosurgical patients. The values of pH and pCO2 were classified in three groups corresponding to the following three ranges of lactate concentration: below 15 mg%, 15-30 mg%,...
journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章
doi：
更新日期：1976-07-01 00:00:00
abstract：BACKGROUND AND AIM:General anesthesia (GA) is the most commonly used anesthetic technique for spinal surgery. This study aimed to compare spinal anesthesia (SA) and GA in patients undergoing spinal surgery, in terms of perioperative outcome and cost effectiveness. MATERIALS AND METHODS:The study included 80 patients w...
journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章,随机对照试验
doi：10.1016/j.pjnns.2014.05.005
更新日期：2014-01-01 00:00:00
abstract：:The acute phase of spinal cord injury includes primary and secondary pathological patterns. Primary patterns include the effects of contusion, laceration, stretch of neural tissue and direct vascular trauma. These changes are irreversible. Secondary patterns include posttraumatic ischemic changes, loss of energy metab...
journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章,评审
doi：
更新日期：1996-01-01 00:00:00
abstract：:Juvenile myoclonic epilepsy (JME) is a common idiopathic generalized epilepsy (IGE); it has a clinical and probably a strong genetic relation to the other IGE forms. Generalized spike/polyspike-wave discharges (SW/PSW) are typical of all IGEs. The aim of our study was to determine the incidence of epilepsy and SW/PSW ...
journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章
doi：
更新日期：1999-03-01 00:00:00
abstract：:The authors discuss the problem of recurrent haemorrhage in neurosurgical practice on the basis of a material of 36 cases out of a groups of 401 treated surgically for arterial aneurysms in the years 1971--1975. They describe the methods of prevention of recurrent haemorrhage by administration of pharmacological agent...
journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章
doi：
更新日期：1977-11-01 00:00:00
abstract：:By the end of a dialysis session the patient had a generalized convulsive seizure. Then meningeal syndrome, right-sided hemiparesis with central lesion of right facial nerve and bilaterally positive extensor plantar response were found. Because of the increase of blood pressure and then increased body temperature the ...
journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章
doi：
更新日期：1993-01-01 00:00:00
abstract：:Vertebral haemangioma is a slowly growing benign tumour arising from blood vessels. Haemangioma of the vertebrae is usually asymptomatic. Neurological symptoms occur when haemangioma causes compression of nerve roots or spinal cord. In this paper a case of a 59 year-old woman with, vertebral body L2 haemangioma is rep...
journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章
doi：
更新日期：1999-03-01 00:00:00
abstract：:We present a case of 47-year old patient with a rare form of focal dystonia restricted to laryngeal adductors with blepharospasm. Apart from typical symptoms of blepharospasm, the patient had severe problems with articulation in the form of harsh voice, frequently interrupted speech and the sound coming out with a gre...
journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章
doi：
更新日期：1998-09-01 00:00:00
abstract：BACKGROUND:Aim was to describe the clinical spectrum, therapy, and outcome of ischemic strokes under therapy with new oral anticoagulants (NOAC). METHODS AND RESULTS:A literature research was carried out in PubMed. Clinical trials as well as case reports were included. Four large trials comparing NOAC with warfarin re...
journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章,评审
doi：10.1016/j.pjnns.2014.03.001
更新日期：2014-01-01 00:00:00
abstract：:In the Province of Szczecin in the period 1993-1995 the incidence was 2.16 and the prevalence 55.32/100,000 on December 31 1995. Incidence and prevalence were higher in women (the difference was higher in Szczecin City) what was not connected with a significantly greater number of women in the population of the provin...
journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章
doi：
更新日期：1999-05-01 00:00:00
abstract：:Complications of transpedicular stabilizations of thoraco-lumbar burst fractures are presented on the basis of literature review and own experiences. Unstable thoraco-lumbar burst fractures create the most difficult biomechanical conditions for a stabilizer. A literature review was done to estimate the effectiveness o...
journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章,评审
doi：
更新日期：2006-03-01 00:00:00
abstract：:The authors made an attempt at treating chronic cluster headache with ketotifen (Zaditen, Sandoz). The drug is the first known agent stabilizing the cell membrane of mast cells which may be taken orally. The treatment was administered to 15 patients giving the drug in doses of 1 mg thrice daily for 8 weeks. A very goo...
journal_title：Neurologia i neurochirurgia polska
pub_type： 临床试验,杂志文章
doi：
更新日期：1984-03-01 00:00:00
abstract：INTRODUCTION:The prevalence of intracranial aneurysms is estimated to be around 3% in the general population. Although these are often incidental findings, they potentially carry the risk of rupture, with all of the devastating consequences of SAH. STATE OF THE ART:Several risk factors of aneurysm rupture have been id...
journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章
doi：10.5603/PJNNS.a2020.0087
更新日期：2020-01-01 00:00:00
abstract：:From 1983 to 1988 25 infected shunt systems were found in 205 hydrocephalic children. Four children were treated successfully with antibiotics given into the shunt system and intravenously. Seventeen shunt systems had to be removed and Rikham reservoir or external drainage implanted. Antibiotics were given both into t...
journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章
doi：
更新日期：1991-05-01 00:00:00
abstract：:A 22-year old patient with Jadassohn's naevus phacomatosis affecting the right side of the head, face and brain is reported. Besides naevus linearis on the forehead, lipomata of the right palpebra, skin and palate, 2 odontomata, hypodermal and submucosal hyperplasia of the right half of the oral cavity, a small aneury...
journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章
doi：
更新日期：1991-07-01 00:00:00
abstract：:Disturbances of glucose metabolism in epilepsy and other neurodegenerative diseases. Impairment of glucose and acetyl-CoA metabolism is a characteristic feature of several degenerative brain diseases. Presented paper provides experimental evidences that NO, aluminum and thiamine deficiency result in concordant disturb...
journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章,评审
doi：
更新日期：2000-01-01 00:00:00
abstract：:The authors present the results of own investigations on the occurrence of side effects following myelography with the contrast medium Amipaque administered usually by the lumbar route. Sixty patients aged 21-65 years with various diseases of the spinal cord and cauda equina were studied. Clinical and myelographic inv...
journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章
doi：
更新日期：1985-05-01 00:00:00
abstract：:The authors conducted periodic electroencephalographic (chrono-EEG) investigations in 64 subjects including 48 with various vasomotor headaches and 16 healthy ones. Chrono-EEG investigations carried out at different times of the day during wakefulness in healthy subjects and patients with Horton's (cluster) headaches ...
journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章
doi：
更新日期：1980-01-01 00:00:00
abstract：:The authors describe iodinated contrast materials, which are commonly used in neuroradiological applications. The adverse reactions after their, administration are discussed. The indications for safer, non-ionic contrast media are presented. The protocol of prophylactic treatment of high risk patients is also formulat...
journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章,评审
doi：
更新日期：1997-03-01 00:00:00
abstract：:The authors discuss the etiology and pathogenesis of SSPE in the light of own observations of two boys aged 8 and 9 years whose one grandfather and one grandmother were siblings. The boys lived in different parts of Poland and never been in contact with each other. In the light of this observation the authors discuss ...
journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章
doi：
更新日期：1983-11-01 00:00:00
abstract：BACKGROUND AND PURPOSE:The objective of the study was to assess bilateral subthalamic nucleus (STN) deep brain stimulation (DBS) for patients with advanced Parkinson disease (PD). MATERIAL AND METHODS:The study population included 5 patients with bilateral STN DBS who completed a 5-year postoperative follow-up period....
journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章
doi：10.1016/s0028-3843(14)60401-1
更新日期：2010-01-01 00:00:00
abstract：:The problem of pathogenesis and effective treatment of traumatic optic neuropathy (TON) is still an open question. According to current opinions the immediate results of conservative treatment with megadose corticosteroids are similar to those obtained with surgical decompression. No data on late results of both modes...
journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章
doi：
更新日期：1998-09-01 00:00:00
abstract：:The value of S-100 protein as a biochemical marker of the extension of brain damage was studied in a rat model of ischaemic stroke. Increased S-100 levels in cerebrospinal fluid were found between the second and fifth day stroke, and the highest values were noted in animals with largest infarcts. In the acute phase is...
journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章
doi：
更新日期：1989-05-01 00:00:00
abstract：:Investigations of biological rhythms were done in migraine relating the results to certain neurochemical and electroencephalographic studies. The obtained results demonstrated evident individual fluctuations of blood serotonin level in patients with migraine and in control groups. Correlations and connections were dem...
journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章
doi：
更新日期：1983-01-01 00:00:00
abstract：:Visual (VEPs) and somatosensory (SEPs) evoked potentials in a group of 33 patients (mean age 49 years) with non-Hodgkin lymphoma (n-HL) without CNS involvement were recorded. There were 24% of patients with pathological VEPs and 30% of patients with pathological SEPs. Pathological VEPs and SEPs were both recorded in 4...
journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章
doi：
更新日期：1995-05-01 00:00:00
abstract：:Clinical course of disease and results of EEG examinations of 6 patients with severe brain disturbances of various aetiology provided grounds for discussion on the phenomenon of periodic stereotyped EEG discharges (PSD) which is of considerable diagnostic value in some cases. The variability in appearance of these dis...
journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章
doi：
更新日期：1977-03-01 00:00:00
abstract：:This article presents the topical views on the surgical treatment of spasticity. On the ground of available literature the authors tried to present the indications for different surgical procedures according to a etiology and different parts of the body and the groups of the muscles afflicted of spasticity. ...
journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章,评审
doi：
更新日期：2002-05-01 00:00:00
abstract：INTRODUCTION:The authors of the article published in the current edition a single-centre prospective cohort study featuring patients who had undergone a diagnostic cerebral angiography procedure and who had experienced a headache associated with the procedure [1]. The authors of 'Clinical features and risk factors of a...
journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章
doi：10.5603/PJNNS.a2019.0057
更新日期：2019-01-01 00:00:00
abstract：:A group of 69 patients aged 60-80 years with brain tumours were analysed, estimating the surgical risk at the time of qualification for operations. Surgical treatment was given to 36 patients limiting it to lobectomy of the part of the brain containing the greater part of the tumour. The peri-operational mortality was...
journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章
doi：
更新日期：1993-11-01 00:00:00
