Involvement of YKL-40-positive macrophages commonly identified in polymyositis and dermatomyositis in the pathogenesis of myositis: a retrospective study.

YKL-40 is implicated in inflammation and tissue repair, but no reports have investigated its involvement in myositis in polymyositis (PM) and dermatomyositis (DM). Therefore, we aimed to investigate the relationship between YKL-40 and PM/DM. We retrospectively enrolled 35 patients diagnosed with PM/DM along with 26 healthy controls (HCs). Both PM and DM were diagnosed according to Bohan and Peter's criteria. Serum YKL-40 levels were measured, age-corrected to YKL-40 percentile values, and compared to HCs. Patients with myositis without interstitial lung disease were also enrolled and compared to HCs. Immunofluorescence staining was performed to identify YKL-40-positive inflammatory cells in muscle biopsy samples from two patients each with PM and DM. Age-corrected serum YKL-40 levels were significantly higher in patients with PM/DM compared to HCs with and without lung disease; however, these levels decreased significantly after treatment. Immunohistochemical analysis showed infiltration of YKL-40-positive inflammatory cells into the intramuscular sheath and perimuscular membrane. Immunofluorescence staining showed CD68 expression in YKL-40-positive inflammatory cells, suggesting that these cells were macrophages. To the best of our knowledge, this is the first study to demonstrate that YKL-40-positive macrophages are present in PM and DM, indicating that YKL-40 may be involved in PM/DM.

Additional Steroid Therapy for Delayed Facial Palsy in Miller Fisher Syndrome.

Miller Fisher syndrome (MFS) is a variant of Guillain-Barré syndrome. Delayed facial palsy (DFP) is a symptom that occurs after other neurological symptoms begin to recover within four weeks from the onset of MFS. As there have been few detailed reports about DFP in MFS cases treated with additional immunotherapy, we investigated three cases of DFP in MFS treated with additional steroid therapies. The duration of facial palsy in our cases was 12-24 days. No severe adverse effects were observed. Although adverse side effects should be carefully monitored, additional steroid therapy might be a treatment option for MFS-DFP.

[Eclizumab in the treatment of myasthenia gravis crisis complicating invasive thymoma: a case study of efficacy].

A 40-year-old male patient was diagnosed with invasive thymoma and myasthenia gravis in 2015. In 2016 and 2017, he experienced myasthenic crises, with an increase in size of invasive thymoma. In 2018, he received chemotherapy for the invasive thymoma. After 2 months, his symptoms rapidly progressed to myasthenic crisis with severe bulbar and respiratory symptoms, despite the significant effect of chemotherapy for the thymoma. High-dose corticosteroid, multiple plasma exchanges, and intravenous immunoglobulin did not improve the symptoms. Thus, eculizumab was administered, resulting in an improvement in his conditions. To our knowledge, this is the first report showing that eculizumab may improve myasthenic crisis with invasive thymoma.

Low-dose perampanel improves refractory cortical myoclonus by the dispersed and suppressed paroxysmal depolarization shifts in the sensorimotor cortex.

OBJECTIVE: To elucidate the effects of perampanel (PER) on refractory cortical myoclonus for dose, etiology and somatosensory-evoked potential (SEP) findings. METHODS: We examined 18 epilepsy patients with seizure and cortical myoclonus. Based on data accumulated before and after PER treatment, correlations among clinical scores in myoclonus and activities of daily life (ADL); early cortical components of SEP; and PER blood concentration, were analyzed. RESULTS: PER (mean dose: 3.2 ±â€¯2.1 mg/day) significantly improved seizures, myoclonus and ADL and significantly decreased the amplitude of and prolonged latency of giant SEP components. The degree of P25 and N33 prolongations (23.8 ±â€¯1.6 to 24.7 ±â€¯1.7 ms and 32.1 ±â€¯4.0 to 33.7 ±â€¯3.4 ms) were significantly correlated with improved ADL score (p = 0.019 and p = 0.025) and blood PER concentration (p = 0.011 and p = 0.025), respectively. CONCLUSIONS: Low-dose PER markedly improved myoclonus and ADL in patients with refractory cortical myoclonus. Our results suggest that SEP, particularly P25 latency, can be used as a potential biomarker for assessing the objective effects of PER on intractable cortical myoclonus. SIGNIFICANCE: In this study, PER lessened the degree of synchronized discharges in the postsynaptic neurons in the primary motor cortex.

[A case of muscle sarcoidosis with hypercalcemia, lower limb muscle strength and without bilateral hilar lymphadenopathy].

A 73-year-old man was hospitalized with complaints of general malaise, limb muscle weakness and weight loss progressing in 6 months. Ca, ACE, lysozyme, sIL-2R, vitamin 1.25 D was high in the blood test. Bilateral hilar lymphadenopathy on CT were not recognized, and CD4/CD8 ratio increased by bronchoalveolar lavage. In the 67Ga-citrate scintigraphy, accumulation was observed on the thigh and shoulder to the upper arm bilaterally. A muscle biopsy was performed from the right femoris muscle where the gadolinium contrast effect in the T1 weighted image was observed. As muscle biopsy revealed non-toxic epithelial cell granulomas, he was diagnosed as muscle sarcoidosis. Even if bilateral hilar lymphadenopathy is not observed, muscle sarcoidosis should be considered in patients developed with hypercalcemia and limb muscle weakness.

Tongue Pressure Measurement and Videofluoroscopic Study of Swallowing in Patients with Parkinson's Disease.

This study investigated the relationship between tongue pressure during swallowing and dysphagia in patients with Parkinson's disease (PD). A total of 24 patients with PD (12 men and 12 women, mean age 70.4 years) were studied. Their mean Hoehn and Yahr scale was 3.0 ± 1.3 (range 1-5). All participants underwent tongue pressure measurement and videofluorography during swallowing. Tongue pressure when swallowing 5 mL of barium on videofluorography was measured using a sensor sheet with five sensors. Based on the findings of videofluorography, the patients were divided into two groups: dysphagic PD group (n = 9) and non-dysphagic PD group (n = 15). The maximal magnitude (kPa), duration (s), time to peak pressure (s), and pressure gradient (kPa/s) of tongue pressure were analyzed for each part. For duration, time to peak pressure, and pressure gradient, similar values were calculated from the total waveform. There was no significant difference in maximal tongue pressure between the groups. The dysphagic PD group had prolonged duration of tongue pressure and time to peak pressure and a reduced pressure gradient compared with the non-dysphagic PD group. These results indicate that there is a clear difference in the temporal aspects of tongue pressure between the non-dysphagic and dysphagic PD patients. These differences provide the characteristics of tongue movement during swallowing in PD patients with dysphagia, which may be useful for the diagnosis and treatment of dysphagia.

[A case of muscle sodium channelopathy with markedly high value of serum creatine kinase and mild eyelid myotonia].

We report on a Japanese 13-year-old male without a family history of muscle disease admitted to our hospital due to an elevated serum creatine kinase. From the age of 3 he was complaining of muscle stiffness during and after exercise. At the age of 7 he experienced muscle stiffness and weakness during long-distance running, which would continue till the next day, disappearing only after resting for a day. Upon examination, we noted that repeated eyelid contractions induced myotonia that increased in the cold. Electromyography revealed myotonic discharge in the tongue muscle. Genetic analysis revealed a mutation of Nav1.4, M1592V. Although this mutation had originally been reported in families with Hyperkalemic periodic paralysis (Hyper PP), we diagnosed as paramyotonia congenita due to the symptoms of exercise and cold-induced myotonia without an attack of generalized weakness. This case suggest that sodium channelopathy is very rare, but should be considered in the differential diagnosis of an elevation of serum creatine kinase even if coexisting myotonia is only mild.

Therapeutic efficacy of double filtration plasmapheresis in patients with anti-aquaporin-4 antibody-positive multiple sclerosis.

Multiple sclerosis (MS) in Asian countries, including Japan, is classified into two types: conventional MS (C-MS), characterized mainly by cerebral lesions, and opticospinal MS (OS-MS) or neuromyelitis optica (NMO), characterized by selective involvement of the optic nerve and spinal cord. Recently, a serum immunoglobulin-G-antibody was discovered in patients with NMO that targets aquaporin-4 (AQP4). The existence of the anti-AQP4 antibody shows the pathogenetic role of humoral immune factors in OS-MS/NMO. We treated eight patients with anti-AQP4 antibody-positive MS with double filtration plasmapheresis (DFPP) to remove the antibody. Improvement of vision was observed in two patients. Motion improvement was seen in seven patients. Sensory improvement was observed in four patients. In total, six out of eight patients (75%) showed therapeutic improvement after DFPP treatment. We propose that DFPP might be an effective therapeutic option for patients with anti-AQP4 antibody-positive MS.

[A woman with cerebellar ataxia and hypergonadotropic hypogonadism].

A 26-year-old woman with primary amenorrhea in association with hypergonadotropinism, and lacking a vagina and uterus, suffered from a gradually progressive gait disturbance in her adolescence. The patient has no family history of ataxia and a chromosome study showed a normal karyotype (46,XX). Using the revised Hasegawa Dementia Scale, her cognitive function was measured as that of a normal adult, however, neurological examination revealed symptoms of scanning speech, horizontal gaze-evoked nystagmus, and ataxia. Bulging eyes, high-arched palate, scoliosis and ventricular septal defect were also observed. A brain MRI showed atrophy of the cerebellum. A 123I-IMP brain SPECT study showed hypoperfusion in the cerebellum. Previous studies show that among patients with cerebellar ataxia and hypergonadotropic hypogonadism, some show an autosomal recessive inheritance, while others have no family history. As a cause, a chromosomal abnormality is unlikely because all reported karyotypes were normal. This case is different from other reported cases in that she is not mentally impaired or deaf. The present case indicates that there is a close relationship between cerebellar ataxia and hypogonadism, and that other symptoms such as deafness and mental impairment could be an additional variable in patients with cerebellar ataxia arid hypergonadotropic hypogonadism.

Decreased chloride levels of cerebrospinal fluid in patients with amyotrophic lateral sclerosis.

Recent studies have suggested that the elevation of intracellular chloride contributes to excitotoxic cell death in motor neuron and can be related to the pathogenesis of amyotrophic lateral sclerosis (ALS). We investigated whether chloride levels in cerebrospinal fluid (CSF) and serum were lower in ALS patients than in control patients with other neurological diseases (OND). We also examined the relationship between chloride levels and clinical ALS phenotypes. We measured chloride levels (CSF and serum) in 27 ALS patients and 33 age- and gender-matched OND controls admitted to our hospital for diagnosis. The CSF chloride levels were lower in ALS patients (117 [range 102-130] mmol/L) than in OND controls (126 [range 114-134] mmol/L) (P<0.0001). However, no significant difference was found in their serum chloride levels (P>0.05). There was no significant difference in CSF chloride levels among the sub-groups of ALS patients classified according to their age, gender, duration of illness, clinical state and type of onset (P>0.05). CSF chloride levels already significantly decreased in ALS patients at the time of diagnosis. We conclude that the elevation of intracellular chloride would cause the reduction of chloride in CSF and be related to the pathogenesis of ALS.

Cerebral blood flow in Parkinson's disease, dementia with Lewy bodies, and Alzheimer's disease according to three-dimensional stereotactic surface projection imaging.

Regional brain perfusion was analyzed using single-photon emission computed tomography with three-dimensional stereotactic surface projections (3D-SSP) in 69 patients with Parkinson's disease (PD), 16 patients with dementia with Lewy bodies (DLB) and 15 patients with Alzheimer's disease (AD), and compared with that in 24 age-equivalent normal subjects. Nondemented PD patients revealed less parietal and frontal flow than controls. With mental impairment, flow reduction extended to other areas including occipital regions. PD with dementia and DLB showed similar reduction patterns, although frontal flow showed a greater reduction in DLB. AD showed little occipital reduction, but a severe parieto-temporal reduction. Thus, 3D-SSP appears to be useful in the detection of cortical lesions and the differential diagnosis of patients with cognitive impairment.