No To Hattatsu最新文献

{"title":"[Successful treatment with topiramate in a case of idiopathic intracranial hypertension refractory to acetazolamide].","authors":"Marie Noda,&nbsp;Yuri Sonoda,&nbsp;Megumi Takemoto,&nbsp;Ryutaro Kira","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>A 6-year-old girl experienced nausea and vomiting for 3 weeks and double vision for 1 week prior to her first visit to our hospital. She had bilateral ophthalmoplegia from sixth cranial nerve palsy and papilledema. Her brain MRI showed normal brain parenchyma. The lumbar cerebrospinal fluid (CSF) opening pressure was 1000 mm of water measured with normal CSF contents. From these findings, she was diagnosed with idiopathic intracranial hypertension (IIH). Initial lumbar puncture (LP) immediately improved her symptoms, but acetazolamide, a first line drug for the treatment of IIH, failed to maintain the remission, and three more periodical LP were required to relieve her symptoms every 2 weeks. After the fourth LP, acetazolamide was switched to a second line drug for IIH, topiramate, which was found to be highly effective in controlling IIH in a short time period. The long process of IIH causes vision loss, therefore, its prompt treatment is vital. In cases refractory to medical treatment, surgical treatments such as CSF shunt are considered. Acetazolamide is used in most IIH cases after the initial diagnosis, but in this case, it was ineffective, and topiramate was highly effective. Both acetazolamide and topiramate are inhibitors of carbonic anhydrase isoforms involved in CSF secretion. Inhibition of choroid plexus carbonic anhydrase by these drugs leads to decreased CSF secretion and the consequent control of intracranial pressure. Higher isoform specificity and increased lipophilic nature of topiramate, which are advantageous for passing through the blood brain barrier, may be the reasons for better activity than acetazolamide, at least in the present case. Topiramate might be effective and should be considered for refractory IIH cases before surgical treatments.</p>","PeriodicalId":39367,"journal":{"name":"No To Hattatsu","volume":"49 3","pages":"207-10"},"PeriodicalIF":0.0,"publicationDate":"2017-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36402604","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Irreversible cerebral ischemia caused by febrile status epilepticus in Sturge-Weber syndrome type III].","authors":"Yuri Sakaguchi,&nbsp;Tomohide Goto,&nbsp;Sahoko Miyama","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>We report a 9-year-old girl with Sturge-Weber syndrome (SWS) type III, whose motor function deteriorated after an episode of febrile status epilepticus. The patient had leptomeningeal angiomas in the left temporal, occipital, and parietal lobes. Complex partial seizures, which started at 8 months, were controlled by antiepileptic medications. At 9 years of age, she developed irreversible ischemic lesions in the left temporal and occipital regions after the febrile status epilepticus and her motor function deteriorated. In addition to antiepileptic medications, aspirin therapy was started.SWS type III is a rare disorder characterized by leptomeningeal angiomatosis without facial nevus. In addition to the chronic ischemia in the affected cortex, epileptic seizures result in a phased progression of ischemia in SWS. Although the patient’s complex partial seizures had been well-controlled, a single episode of febrile status epilepticus resulted in permanent brain lesions. The impairment of appropriate hemodynamic response to status epilepticus, together with venous hypertension in the affected side in SWS may have caused the cerebral infarction in our case. Seizure control is crucial to improving the neurological prognosis of SWS.</p>","PeriodicalId":39367,"journal":{"name":"No To Hattatsu","volume":"49 2","pages":"126-9"},"PeriodicalIF":0.0,"publicationDate":"2017-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36402098","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[The characteristics of social skills, school maladjustment and stress responses in junior high school students with autism spectrum disorder].","authors":"Junko Okajima,&nbsp;Noriko Kato,&nbsp;Yuko Yoshitomi,&nbsp;Rie Kanaya,&nbsp;Ryoichi Sakuta","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objective: </strong>The purpose of this study was to test difference between the social skills of adolescents with autism spectrum disorder (ASD) and their typically developing students.\"</p><p><strong>Methods: </strong>Participants were 299 junior high school students from public schools. The group included 19 junior high school students with ASD. Participants responded to self-rated questionnaire on social skills, school maladjustment, and stress.</p><p><strong>Results: </strong>Results showed that adolescent with ASD had mental health difficulties (in stress responses and school maladjustment) and poor social skills as compared to their typically developing peers. A cluster analysis was conducted by dividing the participants into the following four groups based on their z-scores on the social skills scale: “low skill type”, “low skill of continuing relationship type”, “well-balance type”, and “inactive type”. A Chi-square test revealed that a greater portion of the ASD group included students belonging to the “inactive, authoritative and low type” and “inactive type” cluster as compared to the typically developing group.</p><p><strong>Conclusions: </strong>The Adolescent with ASD have social skills characterized by inactive type that poor entry skills.</p>","PeriodicalId":39367,"journal":{"name":"No To Hattatsu","volume":"49 2","pages":"120-5"},"PeriodicalIF":0.0,"publicationDate":"2017-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36402097","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Non-invasive positive pressure ventilation during the management of severe spinal muscular atrophy type I].","authors":"Kenji Inoue,&nbsp;Nobusuke Kimura,&nbsp;Yoshihisa Higuchi,&nbsp;Makiko Nakamoto,&nbsp;Tsuyoshi Imai,&nbsp;Hisahide Nishio","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Patients with spinal muscular atrophy type Ⅰ (SMA Ⅰ) with the onset before the age of 3 months are considered as severe form of SMA Ⅰ (severe SMA Ⅰ) and have poor prognosis. Here, we report the efficacy of non-invasive positive pressure ventilation (NPPV) in a patient with severe SMA Ⅰ. She was born with generalized hypotonia and feeding difficulties, and had SMN1 gene mutations (the deletion of exons 7 and 8). At 1 month of age, she was intubated because of respiratory failure due to a respiratory tract infection, and extubation proved difficult. Her parents decided that NPPV and a mechanical in-exsufflator (MI-E) should be used for respiratory management rather than a tracheotomy. The NPPV improved her peripheral coldness, cold sweats, chest wall movement, and heart rate and enabled her to sleep well. At 1 year and 2 months, chest computed tomography revealed mild pneumonia and did not show any atelectasis. The NPPV facilitated discharge, and the patient had a good quality of life (QOL) from the point of view of voice production, the ability to move easily, the simplicity of bathing, and the low level of discomfort she experienced. However, she suffered repeated episodes of aspiration pneumonia and airway obstruction (by sputum) after 11 months of age. Thereafter, she required continuous NPPV and high-span inspiratory positive airway pressure (21 cmH2O). At 1 year and 4 months, she died of respiratory failure at home. As her bulbar weakness worsened, respiratory management with NPPV became difficult. However, the long-term use of NPPV together with high-span positive inspiratory pressure plus positive end-expiratory pressure, and a high-pressure MI-E at an early age might improve respiratory management outcomes and patient prognosis. In our case, NPPV was effective at improving ventilation and preventing atelectasis and helped to provide the patient with a good QOL.</p>","PeriodicalId":39367,"journal":{"name":"No To Hattatsu","volume":"49 2","pages":"141-4"},"PeriodicalIF":0.0,"publicationDate":"2017-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36400519","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[The efficacy of intravenous alendronate for osteoporosis in patients with severe motor intellectual disabilities].","authors":"Yoshimi Kaga,&nbsp;Sayaka Ishii,&nbsp;Itaru Kuroda,&nbsp;Yuko Kamiya,&nbsp;Kousuke Nakamura,&nbsp;Hideaki Kanemura,&nbsp;Kanji Sugita,&nbsp;Masao Aihara","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objective: </strong>Bone fractures in patients with severe motor and intellectual disabilities (SMIDs) have become an important problem to be solved. These fractures may result from disuse osteoporosis. Bisphosphonate administration is generally the most established treatment for patients with osteoporosis. However, traditional oral bisphosphonate use is associated with esophagitis as a side effect and may increase the risk of reflux esophagitis for bedridden patients. Intravenous alendronate, one of the bisphosphonates, was released in 2012 in Japan. Though it is appropriate for patients with SMIDs, there are no reports about the effects of intravenous alendronate on osteoporosis in SMID patients. Therefore, the efficacy of intravenous alendronate for osteoporosis was investigated in SMID patients.</p><p><strong>Methods: </strong>The subjects were 62 SMID patients with osteoporosis (20 to 60 years old) in our hospital. They were divided two groups, bisphosphonate treatment group (32 patients) and age-matched controls (30 patients). Patients in bisphosphonate treatment groups were given 900μg intravenous alendronate once a month. All patients were also administered oral vitamin D3. Serial bone density, bone metabolism markers, and existence of fractures were compared in both groups before and after treatment (6 months, 1 years, and 2 years).</p><p><strong>Results: </strong>In bisphosphonate treatment group, the change rate of bone density was significantly increased and bone metabolism markers were improved at 6 months and 1 year after starting treatment. After a year, 16 patients in treatment group changed into other treatments, and 12 controls started bisphosphonate treatment. In remaining treatment group (16 patients), the change rate of bone density and bone metabolism markers were improved significantly at 2 years after starting treatment. A patient in control group had a bone fracture, but no patients in bisphosphonate treatment groups had fractures or severe adverse effects.</p><p><strong>Conclusion: </strong>Intravenous alendronate is an effective treatment for osteoporosis in SMID patients.</p>","PeriodicalId":39367,"journal":{"name":"No To Hattatsu","volume":"49 2","pages":"113-9"},"PeriodicalIF":0.0,"publicationDate":"2017-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36402096","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[A case of West syndrome with a deletion at chromosome 2q24.3-q31.3].","authors":"Yuka Hattori,&nbsp;Hisashi Kawawaki,&nbsp;Asako Horino,&nbsp;Hitomi Thuji,&nbsp;Megumi Nukui,&nbsp;Ichiro Kuki,&nbsp;Shin Okazaki,&nbsp;Kiyotaka Tomiwa","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>A male infant suffered from partial seizures at four months of age, and developed West syndrome at eight months of age. ACTH therapy was effective for the West syndrome. However, partial seizures recurred at 14 months of age, which could not be sufficiently controlled with an anti-epileptic drug. A characteristic facial appearance, great toe abnormalities, and developmental retardation were noted. An interstitial deletion of 2q was detected by chromosomal G-banding and array comparative genomic hybridization (CGH) confirmed the deletion as arr 2q24.3q31.3 (166,303,447-180,982.972) ×1 (build19). He presented with clinical findings similar to those of the recently defined 2q31.1 deletion syndrome. The deletion extended to the SCN1A gene, a gene responsible for Dravet syndrome, mapped to the 2q24.3 region. No deletion was noted in the adjacent SCN2A gene. Thus, for interstitial deletions, detailed breakpoints should be identified by array CGH. The frequency of epilepsy varies with deletion ranges in the 2q24-q31 region, suggesting that deletions in the SCN1A gene deletion, as well as in the 2q31.1 region, are involved in the development of West syndrome.</p>","PeriodicalId":39367,"journal":{"name":"No To Hattatsu","volume":"49 2","pages":"131-5"},"PeriodicalIF":0.0,"publicationDate":"2017-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36402099","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[The pitfalls of using diagnosis and treatment guidelines for patients with juvenile myasthenia gravis].","authors":"Keiko Ishigaki","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Even though evidence-based clinical guidelines are useful for the management of common diseases, there are several problems in applying such guidelines to patients with rare diseases. First, there are few references providing high-level evidence pertaining to such diseases, and randomized control as well as large cohort studies are lacking. Most grades of recommendation are “suggest” rather than “recommend” or, often, are based on “expert opinion”. Juvenile myasthenia gravis (MG) is a rare disease and has mainly been reported in East Asia. In 2014, evidence-based clinical guidelines for MG diagnosis and treatment were published in Japan. Since references were scarce, these guidelines were also based on expert opinions such as those of a few institutes or specialists who had gathered most of the patients in Japan. The guidelines might be of limited usefulness for general pediatricians or pediatric neurologists with no MG experience, and we should be aware of strengths and pitfalls when applying such guidelines. For example, while knowing when to start steroid administration or the appropriate steroid dose is feasible, the optimal timing of switching from an anti-cholinesterase drug to a steroid or adding an anti-inflammatory drug and how to decrease or stop steroid administration cannot be ascertained from the guidelines. The lack of references with high-level evidence makes the guidelines difficult to apply, since this would be the information most desired by clinicians. Another problem is that a recommendation may easily be reversed if opposing results are obtained in a single study of a rare disease. Thymectomy was recognized as not being beneficial for MG without thymoma but one recent study reversed this recommendation in the guidelines. Herein, we discuss pitfalls in applying diagnostic and treatment guidelines in patients with juvenile MG.</p>","PeriodicalId":39367,"journal":{"name":"No To Hattatsu","volume":"49 2","pages":"87-93"},"PeriodicalIF":0.0,"publicationDate":"2017-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36402095","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Ictal arterial spin labeling MRI findings in two cases of acute confusional migraine].","authors":"Yoshiaki Watanabe,&nbsp;Tasuku Kitajima,&nbsp;Nanako Nishiguchi,&nbsp;Kiyoko Watanabe,&nbsp;Tatsuharu Sato,&nbsp;Sumito Dateki,&nbsp;Reiko Ideguchi,&nbsp;Hiroyuki Moriuchi","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Arterial spin labeling (ASL) is a magnetic resonance imaging (MRI) technique that enables visualizing of cerebral blood flow without need of a contrast medium. In recent years, there have been reports from outside Japan related to ASL use in migraine attacks. We report two cases of acute confusional migraine (ACM) in children. At time of confusion, ASL imaging showed reduced blood flow: for the first patient, in both cerebral hemispheres from the occipital lobe through the parietal lobe to the temporal lobe; for the second patient, throughout the left cerebral hemisphere. T1-, T2-, diffusion-weighted images, and fluid attenuation inversion recovery (FLAIR) images indicated normal results. Subsequent ASL re-examinations for both cases showed recovery from reduced blood flow. In our view, ACM can be characterized by a reduction in blood flow not limited to the occipital lobe but across wide regions of the cerebral hemisphere. We consider ASL to be helpful in the difficult differentiation of ACM from other disturbances of consciousness, in addition to enabling repeated examinations without the risks associated with single-photon emission computed tomography (SPECT) concerning radiation exposure or with contrast MRI concerning contrast media use.</p>","PeriodicalId":39367,"journal":{"name":"No To Hattatsu","volume":"49 2","pages":"136-40"},"PeriodicalIF":0.0,"publicationDate":"2017-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36400517","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[To promote clinical trials for muscular dystrophy].","authors":"Eri Takeshita","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":39367,"journal":{"name":"No To Hattatsu","volume":"49 2","pages":"84"},"PeriodicalIF":0.0,"publicationDate":"2017-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36402094","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Diagnostic value of single photon emission computed tomography (SPECT) for patients with non-herpetic acute limbic encephalitis.","authors":"Nanako Nishiguchi,&nbsp;Tatsuharu Sato,&nbsp;Kouhei Haraguchi,&nbsp;Daishi Inoue,&nbsp;Yukitoshi Takahashi,&nbsp;Hiroyuki Moriuchi","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>To evaluate the diagnostic value of SPECT (single photon emission computed tomography) brain blood flow imaging for patients with non-herpetic acute limbic encephalitis (NHALE). A retrospective review of three patients who had clinical symptoms compatible to NHALE and were positive for anti-N-methyl-d-aspartate-type glutamate receptor (GluRε2) antibody. The patients consisted of a 6-year-old female, a 10-year-old female and a 13-year-old male, all of whom had limbic symptoms and were anti-GluRε2 antibody-positive. In all cases, brain MRI failed to detect any abnormality, but SPECT brain blood flow imaging was able to detect blood flow changes. All three cases showed some abnormality in their brain waves, and one of them also developed epilepsy. SPECT brain blood flow imaging may therefore be helpful for diagnosing NHALE which can lead to the development of either epilepsy or cognitive impairment.</p>","PeriodicalId":39367,"journal":{"name":"No To Hattatsu","volume":"49 1","pages":"46-50"},"PeriodicalIF":0.0,"publicationDate":"2017-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36314692","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}