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Background To describe the clinical phenotype of paroxysmal extreme pain disorder, an autosomal dominant condition in four members in one family with the mutation NM_002977.3:c.3892G > T (p.Val1298Phe) in the SCN9A gene. Clinical examinations and details from members of one Polish family were collected, including age at onset, features of attacks, problems between attacks, investigational results, treatments tried, and evolution over time. Case presentation Twenty two individuals from this family with paroxysmal extreme pain disorder were identified. Seven of them presented clinical manifestation of paroxysmal extreme pain disorder, of which and in four were identified missens mutations in the SCN9A gene (NM_002977.3:c.3892G > T). The onset of the disorder took place in the neonatal period or infancy and persists throughout life. Autonomic manifestations predominate with extreme pain, skin flushing and harlequin colour change were observed in all. Attacks of excruciating deep burning pain often appear in the rectal, or jaw areas, but also diffuse in the body. Attacks are triggered by factors such as: defecation, eating, pressure and emotion. Carbamazepine and other antiepileptic drugs were only partly effective in almost all, but the response was incomplete. Conclusions Paroxysmal extreme pain disorder is a hereditary sodium channelopathy with pain and an autonomic nervous system dysfunction. Paroxysmal extreme pain disorder is rare, so far only 500 cases of both women and men have been described in world literature.

Background and Purpose— Many patients with acute ischemic stroke are not eligible for thrombolysis or mechanical reperfusion therapies due to contraindications, inaccessible vascular occlusions, late presentation, or large infarct core. Sphenopalatine ganglion (SPG) stimulation to enhance collateral flow and stabilize the blood-brain barrier offers an alternative, potentially more widely deliverable, therapy. Methods— In a randomized, sham-controlled, double-masked trial at 41 centers in 7 countries, patients with anterior circulation ischemic stroke not treated with reperfusion therapies within 24 hours of onset were randomly allocated to active SPG stimulation or sham control. The primary efficacy outcome was improvement beyond expectations on the modified Rankin Scale of global disability at 90 days (sliding dichotomy), assessed in the modified intention-to-treat population. The initial planned sample size was 660 patients, but the trial was stopped early when technical improvements in device placement occurred, so that analysis of accumulated experience could be conducted to inform a successor trial. Results— Among 303 enrolled patients, 253 received at least one active SPG or sham stimulation, constituting the modified intention-to-treat population (153 SPG stimulation and 100 sham control). Age was median 73 years (interquartile range, 64–79), 52.6% were female, deficit severity on the National Institutes of Health Stroke Scale was median 11 (interquartile range, 9–15), and time from last known well median 18.6 hours (interquartile range, 14.5–22.5). For the primary outcome, improved 3-month disability beyond expectations, rates in the SPG versus sham treatment groups were 49.7% versus 40.0%; odds ratio, 1.48 (95% CI, 0.89–2.47); P =0.13. A significant treatment interaction with stroke location (cortical versus noncortical) was noted, P =0.04. In the 87 patients with confirmed cortical involvement, rates of improvement beyond expectations were 50.0% versus 27.0%; odds ratio, 2.70 (95% CI, 1.08–6.73); P =0.03. Similar response patterns were observed for all prespecified secondary efficacy outcomes. No differences in mortality or serious adverse event safety end points were observed. Conclusions— SPG stimulation within 24 hours of onset is safe in acute ischemic stroke. SPG stimulation was not shown to statistically significantly improve 3-month disability above expectations, though favorable outcomes were nominally higher with SPG stimulation. Beneficial effects may distinctively be conferred in patients with confirmed cortical involvement. The results of this study need to be confirmed in a larger pivotal study. Clinical Trial Registration— URL: https://www.clinicaltrials.gov . Unique identifier: NCT03767192.

Multiple sclerosis is a chronic, autoimmunological disease of central nervous system in which axonal damage in brain and spinal cord is observed. It is second most common cause of disability in young adults in West Europe and North America after injuries. There is 2.5 million people suffered from multiple sclerosis worldwide. The worse prognosis is connected with primary progressive MS in which recovery after first symptoms of central nervous system damage isn't observed. That subtype of disease is seen in case of 10-20% people with MS. MTX is a synthetic antracycline with antineoplastic, immunomodulatory and anti-inflammatory effects. Drug was allowed to treatment of leukemia. It is also used in treatment of breast, prostate, ovarian, stomach and liver cancer. Additionally MTX is used in treatment of secondary progressive SM and relapsing - remitting subtype of disease with no respond to treatment with interferon beta and glatiramer acetate. MTX inhibits topoisomerase II activity, matches to DNA molecule and damage her structure. Drug inhibits limphocyte T, B and macrophages activity and antibodies synthesis. The most dangerous side effects of MTX treatment are cardiotoxicity and induction of leukemia. There is lack of studies describing MTX effectiveness and safety in treatment of primary progressive SM.

Objectives single fiber electromyography using concentric needle (SFCN) is used increasingly for the diagnosis of neuromuscular junction disorders. It was forced respects of legal order restricted re-use of sterilized material in medicine and the need to reduce the cost of examination. Introduction concentric needles made it necessary for creation reference values for jitter measured with it. The aim of this study was to create reference values for jitter measured with concentric needle electrodes in healthy people. Methods We collected at least 20 pairs of potentials during minimal voluntary activation of frontalis muscle. These potentials were selected that had a minimal number of components, well-defined peak, however, the amplitude must exceed 100 uV. We tested 28 people, 22 women and 6 men, mean age was 51.7 ± 15.4. The jitter values of action potentials pairs of isolated muscular fibres were expressed as the mean consecutive difference (MCD) and also as the mean of sorted intervals (MSD) after 20 analysed potential pairs. Results The mean value of jitter was MCD 22.9 ± 3.9 ms (range 17–31), MSD 24.9 ± 4.2 ms (range 18–37). Conclusions The results obtained are similar to those reported by other authors, and related to values obtained using a SF needle. Significance SFCN performed by the concentric needle is reliable.

Congenital deficiency of carnitine palmitoyltransferase (CPT) II is a disease with an autosomal recessive inheritance of phenotypic variability which depends on age at the onset of symptoms. Three entities associated with deficiency of CPT II are known: the perinatal, the infantile and the adult form. The perinatal disease is the most severe form and is invariably fatal. On the other hand, the adult CPT II clinical phenotype is benign and requires additional external triggers such as high-intensity exercise to provoke myopathic symptoms. We report a case of adult CPT II deficiency presenting with the subtle symptoms of myopathy. A 32-year-old man was admitted to the hospital complaining of muscle pain after exercise. Athletic appearance drew attention, because the patient denied practicing sport. Neurological examination revealed marked tiredness during the single-leg hop test without other abnormalities. Electromyography (EMG) and serum biochemistry were not typical for myopathy. Routine histopathological examination did not reveal any abnormalities of structure of muscle fibers. Diagnosis was established after ultrastructural and biochemical analysis which revealed changes typical for CPT II deficiency.

Congenital deficiency of carnitine palmitoyltransferase (CPT) II is a disease with an autosomal recessive inheritance of phenotypic variability which depends on age at the onset of symptoms. Three entities associated with deficiency of CPT II are known: the perinatal, the infantile and the adult form. The perinatal disease is the most severe form and is invariably fatal. On the other hand, the adult CPT II clinical phenotype is benign and requires additional external triggers such as high-intensity exercise to provoke myopathic symptoms. We report a case of adult CPT II deficiency presenting with the subtle symptoms of myopathy. A 32-year-old man was admitted to the hospital complaining of muscle pain after exercise. Athletic appearance drew attention, because the patient denied practicing sport. Neurological examination revealed marked tiredness during the single-leg hop test without other abnormalities. Electromyography (EMG) and serum biochemistry were not typical for myopathy. Routine histopathological examination did not reveal any abnormalities of structure of muscle fibers. Diagnosis was established after ultrastructural and biochemical analysis which revealed changes typical for CPT II deficiency.

Background and purpose Narcolepsy is characterized by chronic excessive daytime sleepiness with episodic sleep attacks. There are several associated symptoms of narcolepsy: cataplexy (bilateral muscle weakness without loss of consciousness provoked by an emotional trigger, e.g. laughter), sleep paralysis and hypnagogic-hypnopompic hallucinations. Most cases are sporadic; familial narcolepsy contributes to only 1–5% of all cases. While most cases of narcolepsy are idiopathic and are not associated with clinical or radiographic evidence of brain pathology, symptomatic or secondary narcolepsy may occur occasionally in association with lesions caused by tumours, demyelination or strokes of the diencephalon, midbrain, and pons. There are some examples of non-specific brainstem lesions found in magnetic resonance imaging (MRI) in patients with idiopathic narcolepsy. Material and methods The authors present eleven patients from a five-generation family with many members who suffer from episodic excessive daytime sleepiness. Narcolepsy was diagnosed in 9 patients. Sleepiness was frequently associated with cataplexy, hypnagogic-hypnopompic hallucinations and sleep paralysis. Improvement in their clinical state was observed during the treatment with modafinil. All probands had MRI of the brain, routine blood tests, EEG, polysomnography, examination of the level of hypocretin in cerebrospinal fluid and evaluation by means of Epworth and Stanford Sleepiness Scales. Results In 9 patients with narcolepsy, decreased thickness of the substantia nigra was found and in six of them degenerative lesions in the pontine substantia nigra were also noticed. Conclusions The significance of these changes remains unclear. No data have been published until now concerning the presence of any brain lesions in patients with familial narcolepsy.