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1.  Benign infantile convulsion as a diagnostic clue of paroxysmal kinesigenic dyskinesia: a case series 
Introduction
Paroxysmal kinesigenic dyskinesia is characterized by sudden attacks of involuntary movements. It is often misdiagnosed clinically as psychogenic illness, which distresses the patients to a great extent. A correct diagnosis will improve the quality of life in patients with paroxysmal kinesigenic dyskinesia because treatment with low doses of anticonvulsants is effective for eliminating the clinical manifestations. Paroxysmal kinesigenic dyskinesia can occur independently of or concurrently with benign infantile convulsion. Identification of PRRT2 as the causative gene of benign infantile convulsion and paroxysmal kinesigenic dyskinesia allows genetic confirmation of the clinical diagnosis.
Case presentation
We describe the clinical features of a Japanese family with either paroxysmal kinesigenic dyskinesia or benign infantile convulsion. A PRRT2 missense mutation (c.981C > G, p.Ile327Met) was identified in two patients with benign infantile convulsion and three patients with paroxysmal kinesigenic dyskinesia as well as in two unaffected individuals. Allowing incomplete penetrance in the mutation carriers, this mutation co-segregated completely with the phenotype. The patients with paroxysmal kinesigenic dyskinesia had been misdiagnosed with psychogenic illness for many years. They were correctly diagnosed with paroxysmal kinesigenic dyskinesia when their children visited a pediatrician for benign infantile convulsion. Treatment with carbamazepine controlled their involuntary movements completely.
Conclusions
Paroxysmal kinesigenic dyskinesia is a treatable movement disorder that is often misdiagnosed clinically as psychogenic illness. It is important to note that two clinically distinct disorders, benign infantile convulsion and paroxysmal kinesigenic dyskinesia, are allelic conditions caused by PRRT2 mutations. Paroxysmal kinesigenic dyskinesia should be suspected in families with a child with benign infantile convulsion.
doi:10.1186/1752-1947-8-174
PMCID: PMC4077686  PMID: 24886244
Benign infantile convulsion; Mutation; Paroxysmal kinesigenic dyskinesia; PRRT2; Seizures
2.  Electrical Vagus Nerve Stimulation Attenuates Systemic Inflammation and Improves Survival in a Rat Heatstroke Model 
PLoS ONE  2013;8(2):e56728.
This study was performed to gain insights into novel therapeutic approaches for the treatment of heatstroke. The central nervous system regulates peripheral immune responses via the vagus nerve, the primary neural component of the cholinergic anti-inflammatory pathway. Electrical vagus nerve stimulation (VNS) reportedly suppresses pro-inflammatory cytokine release in several models of inflammatory disease. Here, we evaluated whether electrical VNS attenuates severe heatstroke, which induces a systemic inflammatory response. Anesthetized rats were subjected to heat stress (41.5°C for 30 minutes) with/without electrical VNS. In the VNS-treated group, the cervical vagus nerve was stimulated with constant voltage (10 V, 2 ms, 5 Hz) for 20 minutes immediately after completion of heat stress. Sham-operated animals underwent the same procedure without stimulation under a normothermic condition. Seven-day mortality improved significantly in the VNS-treated group versus control group. Electrical VNS significantly suppressed induction of pro-inflammatory cytokines such as tumor necrosis factor-α and interleukin-6 in the serum 6 hours after heat stress. Simultaneously, the increase of soluble thrombomodulin and E-selectin following heat stress was also suppressed by VNS treatment, suggesting its protective effect on endothelium. Immunohistochemical analysis using tissue preparations obtained 6 hours after heat stress revealed that VNS treatment attenuated infiltration of inflammatory (CD11b-positive) cells in lung and spleen. Interestingly, most cells with increased CD11b positivity in response to heat stress did not express α7 nicotinic acetylcholine receptor in the spleen. These data indicate that electrical VNS modulated cholinergic anti-inflammatory pathway abnormalities induced by heat stress, and this protective effect was associated with improved mortality. These findings may provide a novel therapeutic strategy to combat severe heatstroke in the critical care setting.
doi:10.1371/journal.pone.0056728
PMCID: PMC3570456  PMID: 23424673
3.  Case of invasive nontypable Haemophilus influenzae respiratory tract infection with a large quantity of neutrophil extracellular traps in sputum 
Haemophilus influenzae type b was once the most common cause of invasive H. influenzae infection, but the incidence of this disease has decreased markedly with introduction of conjugate vaccines to prevent the disease. In contrast, the incidence of invasive infection caused by nontypable H. influenzae has increased in the US and in European countries. Neutrophil extracellular traps (NETs) are fibrous structures released extracellularly from activated neutrophils during inflammation, including in pneumonia, and rapidly trap and kill pathogens as a first line of immunological defense. However, their function and pathological role have not been fully investigated. Here, we report a case of fatal nontypable H. influenzae infection with severe pneumonia and bacteremia in an adult found to have a vast amount of NETs in his sputum. The patient had a two-day history of common cold-like symptoms and was taken to the emergency room as a cardiopulmonary arrest. He recovered temporarily, but died soon afterwards, although appropriate antibiotic therapy and general management had been instituted. Massive lobular pneumonia and sepsis due to nontypable H. influenzae was found, in spite of H. influenzae type b vaccine being available. His sputum showed numerous bacteria phagocytosed by neutrophils, and immunohistological staining indicated a number of NETs containing DNA, histone H3, and neutrophil elastase. This case highlights an association between formation of NETs and severe respiratory and septic infection. An increase in severe nontypable H. influenzae disease can be expected as a result of “pathogen shift” due to increased use of the H. influenzae type b vaccine in Japan.
doi:10.2147/JIR.S39497
PMCID: PMC3534390  PMID: 23293532
neutrophil extracellular traps; sepsis; pneumonia; Haemophilus influenzae; type b; nontypable
4.  Sternoclavicular joint septic arthritis following paraspinal muscle abscess and septic lumbar spondylodiscitis with epidural abscess in a patient with diabetes: a case report 
Background
Septic arthritis of the sternoclavicular joint (SCJ) is extremely rare, and usually appears to result from hematogenous spread. Predisposing factors include immunocompromising diseases such as diabetes.
Case presentation
A 61-year-old man with poorly controlled diabetes mellitus presented to our emergency department with low back pain, high fever, and a painful mass over his left SCJ. He had received two epidural blocks over the past 2 weeks for severe back and leg pain secondary to lumbar disc herniation. He did not complain of weakness or sensory changes of his lower limbs, and his bladder and bowel function were normal. He had no history of shoulder injection, subclavian vein catheterization, intravenous drug abuse, or focal infection including tooth decay. CT showed an abscess of the left SCJ, with extension into the mediastinum and sternocleidomastoid muscle, and left paraspinal muscle swelling at the level of L2. MRI showed spondylodiscitis of L3-L4 with a contiguous extradural abscess. Staphylococcus aureus was isolated from cultures of aspirated pus from his SCJ, and from his urine and blood. The SCJ abscess was incised and drained, and appropriate intravenous antibiotic therapy was administered. Two weeks after admission, the purulent discharge from the left SCJ had completely stopped, and the wound showed improvement. He was transferred to another ward for treatment of the ongoing back pain.
Conclusion
Diabetic patients with S. aureus bacteremia may be at risk of severe musculoskeletal infections via hematogenous spread.
doi:10.1186/1471-227X-12-7
PMCID: PMC3447652  PMID: 22702399
Sternoclavicular joint; Septic arthritis; Spondylitis; Epidural abscess; Epidural anesthesia; Staphylococcus aureus
5.  Green Urine Discoloration due to Propofol Infusion: A Case Report 
We present a 19-year-old man who excreted green urine after propofol infusion. The patient was admitted to our hospital for injuries sustained in a traffic accident and underwent surgery. After starting continuous infusion of propofol for postoperative sedation, his urine became dark green. Serum total bilirubin and urine bilirubin were both elevated. We believe that the green discoloration of the urine was caused by propofol infusion and was related to impaired enterohepatic circulation and extrahepatic glucuronidation in the kidneys.
doi:10.1155/2011/242514
PMCID: PMC3542914  PMID: 23326690
7.  Cardiac scintigraphic findings of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes: A case report 
A 49-year-old woman was admitted to hospital because of heart failure. She was diagnosed as having mitochondrial cardiomyopathy and diabetes mellitus. Echocardiography revealed a hypertrophic and poorly contracting left ventricle. A diagnosis of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes was established by muscle biopsy. She underwent technetium-99m-sestamibi (99mTc-MIBI) and beta-methyl-p-123I-iodophenyl-pentadecanoic acid (123I-BMIPP) scintigraphic examinations. 99mTc-MIBI single-photon emission computed tomography revealed reduced tracer uptake in the hypertrophic left ventricular inferior wall. In contrast, there was an increase in 123I-BMIPP uptake in the in the region of reduced 99mTc-MIBI uptake (99mTc-MIBI/123I-BMIPP mismatch). There was rapid washout of 99mTc-MIBI from the myocardium (washout rate increased by 30%). Decreased 99mTc-MIBI and increased 123I-BMIPP uptake (99mTc-MIBI/123I-BMIPP mismatch) were the characteristics of cardiac involvement in mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes.
PMCID: PMC2586404  PMID: 19343124
99mTc-MIBI; 123I-BMIPP mismatch; 99mTc-MIBI washout; MELAS
8.  Mid-Ventricular Obstructive Hypertrophic Cardiomyopathy Associated with an Apical Aneurysm: Evaluation of Possible Causes of Aneurysm Formation 
Yonsei Medical Journal  2007;48(5):879-882.
Mid-ventricular obstructive hypertrophic cardiomyopathy (MVOHCM) is a rare type of cardiomyopathy, associated with apical aneurysm formation in some cases. We report a patient presenting with ventricular fibrillation, an ECG with an above normal ST segment, and elevated levels of cardiac enzymes but normal coronary arteries. Left ventriculography revealed a left ventricular obstruction without apical aneurysm. There was a significant pressure gradient between the apical and basal sites of the left ventricle. Cine magnetic resonance imaging (MRI), performed on the 10th hospital day, showed asymmetric septal hypertrophy, mid-ventricular obstruction, and an apical aneurysm with a thrombus. The first evaluation by contrast-enhanced imaging showed a subendocardial perfusion defect and delayed enhancement. It was speculated that the intraventricular pressure gradient, due to mid-ventricular obstruction, triggered myocardial infarction, which subsequently resulted in apical aneurysm formation.
doi:10.3349/ymj.2007.48.5.879
PMCID: PMC2628158  PMID: 17963350
Mid-ventricular obstructive hypertrophic cardiomyopathy; magnetic resonance imaging
9.  Mid-Ventricular Hypertrophic Obstructive Cardiomyopathy Presenting with Acute Myocardial Infarction 
Texas Heart Institute Journal  2007;34(4):475-478.
Mid-ventricular hypertrophic obstructive cardiomyopathy is a rare type of cardiomyopathy that can be accompanied by apical aneurysm. We report the case of a patient who presented with ventricular fibrillation, ST-segment elevation on electrocardiography, and cardiac-enzyme elevation, in the presence of normal coronary arteries. Echocardiography and magnetic resonance imaging showed an hourglass appearance of the left ventricle with an aneurysm in the apex. Left-heart catheterization and continuous-wave Doppler echocardiography revealed a pressure gradient between the apical and basal chambers of the left ventricle. Impaired coronary artery circulation might play a role in the development of mid-ventricular obstruction in patients with mid-ventricular hypertrophic obstructive cardiomyopathy.
PMCID: PMC2170479  PMID: 18172535
Cardiomyopathy, hypertrophic/complications/physiopathology; heart aneurysm/etiology; magnetic resonance imaging; myocardial infarction; thallium radioisotopes/diagnostic use; tomography, emission computed, single-photon; ventricular outflow obstruction/diagnosis
10.  Specific induction of neuronal cells from bone marrow stromal cells and application for autologous transplantation 
Journal of Clinical Investigation  2004;113(12):1701-1710.
Bone marrow stromal cells (MSCs) have the capability under specific conditions of differentiating into various cell types such as osteocytes, chondrocytes, and adipocytes. Here we demonstrate a highly efficient and specific induction of cells with neuronal characteristics, without glial differentiation, from both rat and human MSCs using gene transfection with Notch intracellular domain (NICD) and subsequent treatment with bFGF, forskolin, and ciliary neurotrophic factor. MSCs expressed markers related to neural stem cells after transfection with NICD, and subsequent trophic factor administration induced neuronal cells. Some of them showed voltage-gated fast sodium and delayed rectifier potassium currents and action potentials compatible with characteristics of functional neurons. Further treatment of the induced neuronal cells with glial cell line–derived neurotrophic factor (GDNF) increased the proportion of tyrosine hydroxylase–positive and dopamine-producing cells. Transplantation of these GDNF-treated cells showed improvement in apomorphine-induced rotational behavior and adjusting step and paw-reaching tests following intrastriatal implantation in a 6-hydroxy dopamine rat model of Parkinson disease. This study shows that a population of neuronal cells can be specifically generated from MSCs and that induced cells may allow for a neuroreconstructive approach.
doi:10.1172/JCI200420935
PMCID: PMC420509  PMID: 15199405

Results 1-10 (10)