High Serum Levels of Resistin is Associated With Acute Cerebral Infarction.

BACKGROUND: The inflammatory process is involved in the pathogenesis of atherosclerosis and brain tissue injury following cerebral ischemia. Human resistin is a member of small cysteine-rich secreted proteins and has been implicated in inflammatory responses. This study investigated the association of serum resistin level with acute cerebral infarction (ACI). We also investigated its association with the short-term functional outcome. METHODS: This study included 106 patients with ACI and 106 age-matched and sex-matched healthy control subjects. Serum resistin level was assessed by using enzyme-linked immunosorbent sandwich assay. The association of serum resistin levels with ACI was analyzed by logistic regression analysis. RESULTS: The serum resistin level was significantly higher in patients with ACI than the control group [median (interquartile range), 35.7 ng/mL (13.0 to 70.5) ng/mL vs. 10.5 ng/ml (15.4 to 16.6), P<0.001]. Logistic regression analysis showed that serum resistin level was associated with an ACI (odds ratio=1.055, 95% confidence interval: 1.035-1.074, P<0.001). Among stroke subtypes, the serum resistin level was higher in the patients with large artery atherosclerosis than those with other subtypes (P=0.013). High resistin levels were also significantly associated with unfavorable functional outcome at discharge (odds ratio=1.043, 95% confidence interval: 1.024-1.063, P<0.001). CONCLUSIONS: This study suggests the potential association of resistin with stroke and cerebral atherosclerosis. Increased serum resistin levels were also associated with early unfavorable neurological outcome.

Tarsal tunnel syndrome in patients with fibromyalgia.

OBJECTIVES: This study aims to evaluate the frequency of tarsal tunnel syndrome (TTS) in fibromyalgia (FM) patients. PATIENTS AND METHODS: In this prospective study, we investigated paresthesia of the foot, sensory and motor deficits, atrophy of the abductor hallucis muscle, and the presence of Tinel's sign in 76 female FM patients (mean age 39.3±7.4 years; range, 24 to 52 years) and 60 sex-matched healthy control subjects (mean age 38.6±8.2 years; range, 28 to 49 years) without FM between July 2016 and June 2018. Bilateral electrophysiological studies of the tibial, peroneal, sural, and medial as well as lateral plantar nerves were performed. RESULTS: Paresthesia was observed in 22 FM patient extremities and four control subject extremities (p=0.002). Local tenderness at the tarsal tunnel was observed in 12 FM patient extremities and two control subject extremities (p=0.021). TTS was detected electrophysiologically in 14 FM patient extremities and two control subject extremities (p=0.009). CONCLUSION: Paresthesia of the foot and local tenderness at the tarsal tunnel were significantly more prevalent in FM patients than in healthy control subjects. TTS is statistically more frequent in patients with FM than the normal population. The potential comorbidities of TTS and paresthesia of the foot should be carefully examined in FM patients.

Clinical impact of estradiol/testosterone ratio in patients with acute ischemic stroke.

BACKGROUND: Sex hormones may be associated with a higher incidence of ischemic stroke or stroke-related events. In observational studies, lower testosterone concentrations are associated with infirmity, vascular disease, and adverse cardiovascular risk factors. Currently, female sexual hormones are considered neuroprotective agents. The purpose of this study was to assess the role of sex hormones and the ratio of estradiol/testosterone (E/T) in patients with acute ischemic stroke (AIS). METHODS: Between January 2011 and December 2016, 146 male patients with AIS and 152 age- and sex-matched control subjects were included in this study. Sex hormones, including estradiol, progesterone, and testosterone, were evaluated in the AIS patient and control groups. We analyzed the clinical and physiological levels of sex hormones and hormone ratios in these patients. RESULTS: The E/T ratio was significantly elevated among patients in the stroke group compared to those in the control group (P = 0.001). Categorization of data into tertiles revealed that patients with the highest E/T ratio were more likely to have AIS [odds ratio (OR) 3.084; 95% Confidence interval (CI): 1.616-5.886; P < 0.001) compared with those in the first tertile. The E/T ratio was also an independent unfavorable outcome predictor with an adjusted OR of 1.167 (95% CI: 1.053-1.294; P = 0.003). CONCLUSIONS: These findings support the hypothesis that increased estradiol and reduced testosterone levels are associated with AIS in men.

Isolated medial plantar neuropathy caused by a large ganglion cyst diagnosed with MRI: A case report.

INTRODUCTION: Although ganglion cysts are common soft tissue tumors, nerve compression syndrome caused by a ganglion cyst in the lower extremities is very rare. Herein, we report a 57-year-old man who presented with hypoesthesia in the sole of his right foot for 6 months. We believe that reporting this rare case will help clinicians update their knowledge on possible causes of the plantar neuropathy, and avoid diagnostic delay. PRESENTATION OF CASE: The patient had pain and numbness in the inner right sole, as well as a tingling and dull sensation. Tenderness around the area of abnormal sensation was not evident. Percussion at the abductor tunnel gave a positive Tinel's sign in the medial plantar nerve. No mass was palpable in the right foot. Based on the electrophysiological findings, we diagnosed medial plantar nerve entrapment in the right foot. Magnetic resonance imaging (MRI) was conducted to identify a 5.5-cm long elongated cystic lesion as the cause of entrapment. The patient underwent surgical removal of the cystic mass, with histologic examination confirming the diagnosis of a large ganglion cyst. DISCUSSION: The feasibility of nerve conduction studies and electromyography for detection of nerve entrapment is still controversial. MRI is considered the best diagnostic modality, if biopsy is not feasible. CONCLUSION: We suggest that foot imaging and electrophysiological studies should be considered for patients with isolated median plantar neuropathy to exclude the presence of space-occupying lesions, especially when conservative treatment is not effective.

Complete Oculomotor Nerve Palsy Caused by Direct Compression of the Posterior Cerebral Artery.

Oculomotor nerve palsy frequently occurs because of external compression by an internal carotid-posterior communicating artery aneurysm and diabetes mellitus. In addition, pontine infarction, cavernous sinus tumors, demyelinating disease, and autoimmune disorder are well-known causes of oculomotor nerve palsy. However, cases of complete oculomotor nerve palsy by neurovascular conflicts presented with a sudden onset of clinical symptoms are extremely rare. We experienced a rare case of complete oculomotor nerve palsy because of direct vascular compression of the oculomotor nerve by the posterior cerebral artery.

Whole-genome analysis in Korean patients with autoimmune myasthenia gravis.

PURPOSE: The underlying cause of myasthenia gravis (MG) is unknown, although it likely involves a genetic component. However, no common genetic variants have been unequivocally linked to autoimmune MG. We sought to identify the genetic variants associated with an increased or decreased risk of developing MG in samples from a Korean Multicenter MG Cohort. MATERIALS AND METHODS: To determine new genetic targets related to autoimmune MG, a whole genome-based single nucleotide polymorphisms (SNP) analysis was conducted using an Axiom™ Genome-Wide ASI 1 Array, comprising 598375 SNPs and samples from 109 MG patients and 150 neurologically normal controls. RESULTS: In total, 641 SNPs from five case-control associations showed p-values of less than 10⁻5. From regional analysis, we selected seven candidate genes (RYR3, CACNA1S, SLAMF1, SOX5, FHOD3, GABRB1, and SACS) for further analysis. CONCLUSION: The present study suggests that a few genetic polymorphisms, such as in RYR3, CACNA1S, and SLAMF1, might be related to autoimmune MG. Our findings also encourage further studies, particularly confirmatory studies with larger samples, to validate and analyze the association between these SNPs and autoimmune MG.

Pattern of voiding dysfunction after acute brainstem infarction.

BACKGROUND: The purpose of this study is to compare the patterns of voiding dysfunction according to the locations of brainstem lesions. METHODS: Between November 2008 and December 2011, a total of 30 patients participated in this study. All 30 subjects, consisting of 16 men and 14 women, aged between 41 and 82 years (mean age, 63.0±11.0 years) underwent a urodynamic study within 7 days after the onset of a stroke. RESULTS: Twenty-one (70%) patients had a pontine lesion and 9 (30%) had a medullary lesion. Fourteen of these patients (46.7%) had bladder storage disorder, 7 patients (23.3%) had bladder emptying disorder, and 9 patients (30%) had a normal report. Five of the patients who had a medullary lesion (55.6%) had bladder emptying disorder, whereas only 2 patients who had a pontine lesion (9.5%) had bladder emptying disorder. Thirteen patients who had a pontine lesion (61.9%) showed bladder storage disorder. DISCUSSION: The descending pathway from the midbrain tegmentum is inhibitory, and the pathway from the pontine tegmentum is stimulatory. Because of their location pontine lesions could disrupt the descending fibers of the midbrain tegmentum and medullary lesions could disrupt the descending fibers of the pontine tegmentum.

Clinical, immunohistochemical, Western blot, and genetic analysis in dystrophinopathy.

Dystrophin-deficient muscular dystrophies (dystrophinopathies) are the most common form of muscular dystrophy, with variable clinical phenotypes ranging from the severe Duchenne (DMD) to the milder Becker (BMD) forms. In this study, we investigated the relationship between clinical characteristics, findings at immunohistochemistry (IHC) and Western blot, and the pattern of exon deletions in 24 male patients with dystrophinopathies. We retrospectively reviewed findings from clinical and laboratory examinations, IHC for dystrophin of muscle biopsy tissue, Western blot analysis, and multiplex polymerase chain reaction (PCR) examination of genomic DNA. All tests were performed in every patient. PCR examination revealed exon deletions in 13 patients (54.2%). At Western blot analysis, 15 patients (62.5%) were negative at all three dystrophin domains. Most of these patients had a clinical presentation consistent with the DMD phenotype. Nine (37.5%) others were weakly positive at one or more domains. Most of these patients presented clinically as BMD phenotype. One patient whose clinical presentation was consistent with BMD phenotype had normal findings at IHC and was weakly positive at all three domains on Western blot analysis; however, with the exception of this patient, the findings at IHC and Western blot were consistent for individual patients. Based on these findings, we conclude that Western blot analysis appears useful for confirmation of dystrophinopathy in BMD patients with normal staining on IHC. Exon deletion analysis by multiplex PCR using peripheral blood is also a simple and useful test for the diagnosis of dystrophinopathy, although it has limited sensitivity.

The expression of BAFF in the muscles of patients with dermatomyositis.

A B-cell activating factor of the tumor necrosis factor (TNF) family (BAFF) plays a crucial role in B-cell survival and maturation. An elevated serum BAFF level has been linked to several autoimmune diseases such as Sjögren syndrome, systemic lupus erythematosus and rheumatoid arthritis. Dermatomyositis (DM), one of autoimmune inflammatory myopathies, is characterized by inflammatory cell infiltration (CD4(+) T cells and B cells) in skeletal muscle. Serum BAFF level was significantly high in DM, but the role of BAFF is not well understood. We investigated the role of BAFF in the immunopathogenesis of DM. To examine the transcriptional increase of BAFF gene expression, we performed RT-PCR analysis with skeletal muscle tissue that contained 4 controls and 9 patients with DM. Next, in order to detect BAFF expression and cellular localization in DM, we executed immunostaining in cryosection of biopsied muscle tissue with 4 controls and 8 patients and we adopted to double immunostaining to find which inflammatory cells expressed BAFF-receptor (BAFF-R). BAFF mRNA level was increased in DM patients compared with normal controls. BAFF expression was markedly increased at muscle fibers in the perifascicular area but not blood vessels. BAFF-R was expressed in inflammatory cells in skeletal muscle tissues of DM patients. We found that BAFF expression in muscle tissue may be associated with an increased number of CD4(+) T cells and CD19(+) B cells in DM. Our study results suggest that BAFF might play an important role in the pathogenesis of DM.

Central pontine myelinolysis presented after prophylactic cranial irradiation in small cell lung cancer.

Prophylactic cranial irradiation (PCI) should now be considered as a part of the standard treatment of patients with small cell lung cancer (SCLC) in complete remission. The PCI has been offered in SCLC to reduce the incidence of brain metastasis and increase survival. The complications of PCI were reported brain necrosis, seizure or dementia. The complications were more frequent when chemotherapy was given at the time of cranial irradiation, or large radiation fraction size was employed. It is established that the pathophysiological reaction to irradiation in the normal brain tissue is necrosis, demyelinization, and diffuse changes due to wall thickening of the vascular structures. However, central pontine myelinolysis (CPM) of low dose irradiation like PCI is very rare. We report a patient with the classical syndrome of CPM following PCI for SCLC. The diagnosis was supported by typical features on magnetic resonance imaging.

Elevated serum level of interleukin-32α in the patients with myasthenia gravis.

A new cytokine, interleukin-32 (IL-32), has been implicated in the pro-inflammatory immune responses in several autoimmune disorders, such as rheumatoid arthritis and inflammatory bowel diseases. Myasthenia gravis (MG) is a well-characterized autoimmune disease directed at the postsynaptic acetylcholine receptor (AChR) or end plate of the neuromuscular junction. IL-32 is a cytokine that induces tumor necrosis factor (TNF)-α, IL-6, IL-1ß, and chemokine. IL-6, TNF-α, and IL-2 are related to the pathogenesis and immunoregulation of MG. The gene expression of IL-32 is increased in human natural killer (NK) cells and T lymphocytes when stimulated by IL-2 or mitogen. NK cells influence the development of experimental autoimmune MG (EAMG) and possibly MG. The aim of this study was to examine whether IL-32α levels are increased in patients with MG and to investigate the relationship between IL-32α levels and disease activity in human MG. Serum IL-32α levels were significantly higher in the MG patients (p = 0.03): 460.07 ± 192.30 pg/mL in MG patients and 248.45 ± 188.42 pg/mL in the healthy control group. Although there was no significant statistical difference, serum IL-32α levels of patients with both anti-AChR binding and blocking antibodies trended to be higher than those without either antibodies (521.56 ± 212.92 pg/mL vs. 339.52 ± 182.78 pg/mL, p = 0.16). IL-32α serum levels tended to decrease with clinical improvement in generalized MG. This study suggests the possibility that IL-32 might contribute to MG pathogenesis or immunoregulation.

Eosinophilic vasculitis of the spinal cord associated with Churg-Strauss syndrome.

Eosinophilic vasculitis has been described as part of Churg-Strauss syndrome (CSS), but it also affects the central nervous system in <10% of cases. However, spinal cord involvement in CSS has not been reported. We report a patient with myelopathic symptoms, with a two-year history of asthma. Laboratory tests revealed leukocytosis, with 31.7% eosinophils. A chest computed tomographic scan and radiography showed patchy bilateral areas of consolidation, predominantly involving the peripheral regions of the lower lobes. Spinal cord magnetic resonance imaging (MRI) revealed high-signal-intensity lesions at the C3-C5 and T1-T4 spinal levels on T2-weighted images. A microscopic evaluation revealed an eosinophil-rich inflammatory infiltrate with fibroid necrosis of a vessel wall, and granuloma formation in the small veins was not clearly visible. To the best of our knowledge, this is the first case of eosinophilic vasculitis of the spinal cord associated with CSS, and the patient responded well to steroids.

Clinical characteristics and outcomes of juvenile and adult dermatomyositis.

Dermatomyositis (DM) is an idiopathic inflammatory myopathy with bimodal onset age distribution. The age of onset is between 5-18 yr in juvenile DM and 45-64 yr in adult DM. DM has a distinct clinical manifestation characterized by proximal muscle weakness, skin rash, extramuscular manifestations (joint contracture, dysphagia, cardiac disturbances, pulmonary symptoms, subcutaneous calcifications), and associated disorders (connective tissue disease, systemic autoimmune diseases, malignancy). The pathogenesis of juvenile and adult DM is presumably similar but there are important differences in some of the clinical manifestations, associated disorders, and outcomes. In this study, we investigated the clinical characteristics and outcomes of 16 patients with juvenile DM and 48 with adult DM. This study recognizes distinctive characteristics of juvenile DM such as higher frequency of neck muscle involvement, subcutaneous calcifications, and better outcomes.

A case of cerebral erdheim-chester disease with progressive cerebellar syndrome.

Erdheim-Chester disease (ECD) is a rare non-Langerhans form of histiocytosis. Cerebellar involvement is rare in this syndrome. We report a 37-year-old woman with slowly progressive cerebellar ataxia, dysmetria of limbs, nystagmus, and dysarthria, bilateral painful axillary masses, and generalized arthralgia. Brain MRI revealed cerebellar atrophy with focal lesions in the pons, middle cerebellar peduncle, and the cerebellum. She underwent incisional biopsy of her axillary masses which showed findings consistent with ECD. An MRI of her lower extremities revealed lesions in the diaphyses, metaphyses, and epiphyses of the proximal tibia and distal femur bilaterally. This is a rare case of cerebral ECD with progressive cerebellar syndrome associated with cerebellar atrophy.

Comparison of clinical characteristics between congenital fiber type disproportion myopathy and congenital myopathy with type 1 fiber predominance.

Congenital myopathies are clinical and genetic heterogeneous disorders characterized by skeletal muscle weakness and specific structural changes in muscle fiber. Congenital myopathy with fiber type disproportion (CFTD) is an established disorder of congenital myopathy. CFTD is characterized by non-progressive childhood neuromuscular disorders with a relatively good prognosis and type 1 fiber predominance and smallness. Congenital myopathy with type 1 fiber predominance (CMT1P) is also a distinct entity of congenital myopathy characterized by non-progressive childhood neuromuscular disorders and type 1 fiber predominance without smallness. Little is known about CMT1P. Clinical characteristics, including dysmorphic features such as hip dislocation, kyphoscoliosis, contracture, and high arch palate, were analyzed along with laboratory and muscle pathologies in six patients with CMT1P and three patients with CFTD. The clinical manifestations of CFTD and CMT1P were similar. However, the frequency of dysmorphic features is less in CMT1P than in CFTD. Long term observational studies of CMT1P are needed to determine if it will change to another form of congenital myopathy or if CMT1P is a distinct clinical entity.

Clinical and pathological characteristics of four Korean patients with limb-girdle muscular dystrophy type 2B.

Limb-girdle muscular dystrophy type 2B (LGMD2B), a subtype of autosomal recessive limb-girdle muscular dystrophy (ARLGMD), is characterized by a relatively late onset and slow progressive course. LGMD2B is known to be caused by the loss of the dysferlin protein at sarcolemma in muscle fibers. In this study, the clinical and pathological characteristics of Korean LGMD2B patients were investigated. Seventeen patients with ARLGMD underwent muscle biopsy and the histochemical examination was performed. For the immunocytochemistry, a set of antibodies against dystrophin, alpha, beta, gamma, delta-sarcoglycans, dysferlin, caveolin-3, and beta-dystroglycan was used. Four patients (24%) showed selective loss of immunoreactivity against dysferlin at the sarcolemma on the muscle specimens. Therefore, they were classified into the LGMD2B category. The age at the onset of disease ranged from 9 yr to 33 yr, and none of the patients was wheelchair bound at the neurological examination. The serum creatine kinase (CK) was high in all the patients (4010-5310 IU/L). The pathologic examination showed mild to moderate dystrophic features. These are the first Korean LGMD2B cases with a dysferlin deficiency confirmed by immunocytochemistry. The clinical, pathological, and immunocytochemical findings of the patients with LGMD2B in this study were in accordance with those of other previous reports.

A case of congenital neuromuscular disease with uniform type 1 fiber.

Congenital neuromuscular disease with uniform type 1 fiber (CNMDU1) is a rare but distinct form of nonprogressive, congenital myopathy. CMNDU1 is characterized by a type 1 muscle fiber content of more than 99%. This condition has only been previously described in a few reports. The authors report an 11-year-old girl who exhibited delayed developmental milestones, proximal muscle weakness, and bilateral ptosis. Her serum creatine kinase level was normal but an electromyographic study showed myopathic changes. A biopsy specimen from the left deltoid muscle revealed a uniformity of type 1 fibers (greater than 99%) with a moderate variation in fiber size. This is the first case of CNMDU1 reported in Korea.