記述言語：英語   掲載種別：研究論文（学術雑誌）  

OBJECTIVE: To clarify the relationship between structural and functional changes in the brains of patients with Rett syndrome (RTT) using multimodal magnetic resonance imaging (MRI). METHODS: Nine subjects with typical RTT (RTTs) and an equal number of healthy controls (HCs) underwent structural MRI, diffusion tensor imaging (DTI), and resting-state functional MRI (rs-fMRI). The measurements obtained from each modality were statistically compared between RTTs and HCs and examined for their correlation with the clinical severity of RTTs. RESULTS: Structural MRI imaging revealed volume reductions in most cortical and subcortical regions of the brain. Remarkable volume reductions were observed in the frontal and parietal lobes, cerebellum, and subcortical regions including the putamen, hippocampus, and corpus callosum. DTI analysis revealed decreased white matter integrity in broad regions of the brain. Fractional anisotropy values were greatly decreased in the superior longitudinal fasciculus, corpus callosum, and middle cerebellar peduncle. Rs-fMRI analysis showed decreased functional connectivity in the interhemispheric dorsal attention network, and between the visual and cerebellar networks. The clinical severity of RTTs correlated with the volume reduction of the frontal lobe and cerebellum, and with changes in DTI indices in the fronto-occipital fasciculus, corpus callosum, and cerebellar peduncles. CONCLUSION: Regional volume and white matter integrity of RTT brains were reduced in broad areas, while most functional connections remained intact. Notably, two functional connectivities, between cerebral hemispheres and between the cerebrum and cerebellum, were decreased in RTT brains, which may reflect the structural changes in these brain regions.

DOI： 10.1016/j.jns.2022.120381

PubMed

researchmap

記述言語：英語   掲載種別：研究論文（学術雑誌）  

Myofibrillar myopathy is a clinically and genetically heterogeneous group of muscle disorders characterized by myofibrillar degeneration. Bcl-2-associated athanogene 3 (BAG3)-related myopathy is the rarest form of myofibrillar myopathy. Patients with BAG3-related myopathy present with early-onset and progressive muscle weakness, rigid spine, respiratory insufficiency, and cardiomyopathy. Notably, the heterozygous mutation (Pro209Leu) in BAG3 is commonly associated with rapidly progressive cardiomyopathy in childhood. We describe a male patient with the BAG3 (Pro209Leu) mutation. The patient presented at age 7 years with muscle weakness predominantly in the proximal lower limbs. Histologic findings revealed a mixture of severe neurogenic and myogenic changes. His motor symptoms progressed rapidly in the next decade, becoming wheelchair-dependent by age 17 years; however, at the age of 19 years, cardiomyopathy was not evident. This study reports a case of BAG3-related myopathy without cardiac involvement and further confirmed the wide phenotypic spectrum of BAG3-related myopathy.

DOI： 10.1097/CND.0000000000000392

PubMed

researchmap

記述言語：英語   掲載種別：研究論文（学術雑誌）  

Leigh syndrome is the most genetically heterogenous phenotype of mitochondrial disease. We describe a patient with Leigh syndrome whose diagnosis had not been confirmed because of normal metabolic screening results at the initial presentation. Whole-exome sequencing identified pathogenic variants in NARS2, the gene encoding a mitochondrial asparaginyl-tRNA synthetase. One of the biallelic variants was novel. This highlights the essential role of genetic testing for a definite diagnosis of Leigh syndrome.

DOI： 10.1038/s41439-022-00191-z

PubMed

researchmap

記述言語：日本語   掲載種別：研究論文（学術雑誌）  

researchmap

記述言語：英語   掲載種別：研究論文（学術雑誌）  

This study aimed to elucidate the clinical characteristics of MECP2 duplication syndrome (MDS), particularly at initial presentation, and to provide clinical clues for the early diagnosis of this condition. We conducted a nationwide survey for MDS by sending questionnaires to 575 hospitals where board-certified pediatric neurologists were working and 195 residential hospitals for persons with severe motor and intellectual disabilities in Japan. This survey found 65 cases of MDS, and clinical data of 24 cases in which the diagnosis was genetically confirmed were analyzed. More than half of the patients (52%) had visited a hospital at least once during infancy due to symptoms associated with MDS, with a median age at the initial visit of 7 months. The symptoms that were frequently prevalent at the first visit were facial dysmorphic features, hypotonia, motor developmental delay, and recurrent infections. Dysmorphic features included small mouth, tented upper lip, tapered fingers, and hypertelorism. Other symptoms, including epilepsy, intellectual disabilities, autistic features, stereotypic movements, and gastrointestinal problems, generally appeared later with age. Some symptoms of MDS were found to be age-dependent and may not be noticeable in infancy. Recognition of these clinical characteristics may facilitate the early diagnosis and proper treatment of patients with MDS, improve their long-term outcomes, and help adapt appropriate genetic counseling.

DOI： 10.1016/j.jns.2021.117321

PubMed

researchmap

記述言語：日本語   出版者・発行元：(一社)日本小児神経学会  

IQSEC2はXp11.22に位置し、シナプス後肥厚部に存在して興奮性シナプス伝達を調節するグアニンヌクレオチド交換因子(GEF)をコードしている。この遺伝子変異は、2010年にX連鎖性知的障害を有する家系で初めて同定されたが、その後に女性例や乳児期発症てんかんを合併する例も報告されており、多彩で広い臨床像に関連していることがわかってきた。我々は、IQSEC2エクソン1のフレームシフト変異NM_001111125.2:c.693del[p.(Thr232Profs*25)]によって、最長型IQSEC2アイソフォームの全ての機能性ドメインを失っていると考えられた男児例を経験した。患者は、乳児期から筋緊張低下と斜視に気づかれ、後に精神運動発達遅滞と自閉性障害が顕在化した。脳MRI検査で、軽度の脳萎縮と脳梁の菲薄化および側脳室周囲白質のT2高信号を指摘された。2歳時よりミオクロニー発作が出現し、強直間代発作、非定型欠神発作も認めた。発作間欠期脳波では全般性多棘徐波を認め、てんかん発作は薬剤抵抗性を示した。4歳時に全脳梁離断術を受け、転倒発作は消失し表情も豊かになった。しかし、運動機能の改善はなく、有意語の表出がない状態に変化はなかった。臨床経過は、発達性てんかん性脳症に合致しており、多彩な発作型を有する難治性てんかん、自閉性障害、斜視、特徴的な脳MRI所見を伴っていた。これらの所見は、IQSEC2変異に関連した最も重症な表現型と考えることができる。(著者抄録)

researchmap

その他リンク： https://search.jamas.or.jp/default/link?pub_year=2021&ichushi_jid=J01232&link_issn=&doc_id=20210301280005&doc_link_id=%2Fcl1nohat%2F2021%2F005302%2F009%2F0129-0132%26dl%3D0&url=https%3A%2F%2Fwww.medicalonline.jp%2Fjamas.php%3FGoodsID%3D%2Fcl1nohat%2F2021%2F005302%2F009%2F0129-0132%26dl%3D0&type=MedicalOnline&icon=https%3A%2F%2Fjk04.jamas.or.jp%2Ficon%2F00004_2.gif

記述言語：英語  

Pyruvate dehydrogenase complex (PDHC) deficiency is a mitochondrial disorder. We report two cases of PDHC deficiency with clinical symptoms and brain imaging findings reminiscent of FOXG1 syndrome, suggesting a phenotypic overlap of these disorders.

DOI： 10.1002/ccr3.3883

PubMed

researchmap

記述言語：日本語   出版者・発行元：(財)小児愛育協会  

重症筋無力症は自己抗体によって、神経筋の刺激伝達が障害される自己免疫疾患である。今回われわれは、眼瞼下垂を主訴とした乳児例において、併存する全身症状と球麻痺症状の把握から早期に治療開始できた全身型重症筋無力症の一例を経験した。患者は、10ヵ月の女児。眼瞼下垂を主訴に当科を受診した。病歴聴取により、日内変動を伴う四つ這い移動の速度低下などの全身症状、および水分摂取時の咳込みなどの球麻痺症状の併存が判明した。塩酸エドロホニウムテストおよび正中神経の誘発筋電図検査では、いずれも神経筋接合部障害が確認された。全身型重症筋無力症と診断し、発症後13日目よりプレドニゾロン内服を開始し症状は改善した。眼瞼下垂の鑑別には全身型重症筋無力症も念頭に置き、乳児期特有の全身症状と球麻痺症状を含む詳細な病歴の聴取が重要である。(著者抄録)

researchmap

記述言語：英語  

Hereditary spastic paraplegias (HSPs) are rare neurological disorders caused by degeneration of the corticospinal tract. Among the 79 causative genes involved in HSPs, variants in SPAST on chromosome 2p22, which encodes the microtubule-severing protein spastin, are responsible for spastic paraplegia type 4 (SPG4), the most common form of HSPs. SPG4 is characterized by a clinically pure phenotype that is associated with restricted involvement of the corticospinal tract; however, it is often accompanied by additional neurological symptoms such as epilepsy and cognitive impairment. There are few reports regarding the clinical course and treatment of epilepsy associated with SPG4. We describe a 21-year-old male patient with progressive weakness and spasticity of the lower limbs since infancy, which was complicated by epilepsy and cognitive impairment. Magnetic resonance imaging of the brain showed right hippocampal atrophy before the onset of epilepsy. Genetic analysis revealed a novel missense variant (NM_014946.4:c.1330G>C, p.Asp444His) in the SPAST gene. At the age of 13, the patient developed focal epilepsy, characterized by focal onset seizures that were preceded by a sensation of chest tightness. Carbamazepine, levetiracetam, and zonisamide were ineffective in controlling the seizures; however, the use of lacosamide in combination with lamotrigine and valproate was highly effective in improving the seizure symptoms and led to the patient being seizure free for at least 2 years. In conclusion, the missense variant in SPAST may cause a complex SPG4 phenotype accompanied by epilepsy and cognitive impairment, suggesting that the clinical manifestations of this condition do not confine to the motor system.

DOI： 10.1159/000520433

PubMed

researchmap

記述言語：日本語   掲載種別：研究論文（学術雑誌）  

症例は2歳6ヵ月男児で、生後4ヵ月時、未頸定であやしても反応に乏しいため、精査目的で入院となった。身体診察では頭部から腹部に皮下出血等を認めず、胸腹部所見に異常を認めなかったが、胸部CTにて右第4～7肋骨および左第3～8肋骨に多発骨折を認めた。また、頭部MRIでは右前頭葉から頭頂葉にかけて広範囲な脳実質損傷を認め、左大脳半球の皮質下白質にも複数の脳損傷がみられた。検査結果から身体的虐待が疑われたため児童相談所に通告し、父親による身体的虐待であったことが判明した。その後、生後8ヵ月時に焦点てんかんを発症し、当初脳波は右半球の限局性異常であったが、1歳8ヵ月時にヒプサリズミアに変化し、発作型はシリーズ形成するてんかん性スパズムに変容した。1歳10ヵ月時にACTH療法目的で入院となり、開始6日目からてんかん性スパズムが消失し、治療開始14日目の脳波でヒプサリズミアの消失を確認した。

researchmap

記述言語：英語   掲載種別：研究論文（学術雑誌）  

The study aimed to investigate the role of molecular analysis of SLC2A1 in the diagnostic workup of glucose transporter 1 deficiency syndrome (Glut1DS). During 2006-2020, we received 100 requests for SLC2A1 variant analysis of patients clinically suspected for Glut1DS. Pathogenic variants were detected in 37 patients, among whom 11 were familial cases. Most patients presented with epilepsy (n = 31; 84%), movement disorders (MD) (n = 28; 76%), and intellectual disabilities (ID) (n = 29; 78%). Moreover, paroxysmal dyskinesias (PD) (n = 10; 27%) were more frequently seen in familial cases (55%) than in sporadic cases (15%) (p < .05). The Glut1DS patients with ID typically had either epilepsy or MD. The presence of MD, particularly when associated with epilepsy or ID, indicated Glut1DS (p < .05). The cerebrospinal fluid (CSF) glucose levels were at or below the 10th percentile in all 32 SLC2A1-positive patients but only in 16 of 52 (31%) SLC2A1-negative patients (p < .05). Thus, CSF analysis is an essential tool in the diagnostic workup of Glut1DS. SLC2A1 molecular analysis should be performed in patients with a family history of Glut1DS or with at least one of the following clinical features, such as epilepsy, MD, and PD with or without ID, and low CSF glucose level. This would help in precise molecular diagnosis of the disease and facilitate effective treatment and appropriate genetic counseling.

DOI： 10.1016/j.jns.2020.117041

PubMed

researchmap

記述言語：英語   掲載種別：研究論文（学術雑誌）  

Developmental and epileptic encephalopathy is a group of conditions characterized by the co-occurrence of epilepsy and intellectual disability, in which there is additional developmental impairment independent of epileptic activity. Biallelic variants of SZT2, a known seizure threshold regulator gene, have been linked to a wide spectrum of clinical features, ranging from severe intellectual disability with refractory seizures to mild intellectual disability without seizures. Here, we describe a child with developmental and epileptic encephalopathy whose genetic testing led to the identification of novel biallelic variants of SZT2, a paternally inherited c.2798C>T, p.(Ser933Phe) variant and a maternally inherited c.4549C>T, p.(Arg1517Trp) variant. Our patient showed common clinical and radiographic features among patients with SZT2-related encephalopathy. However, neonatal-onset seizures and suppression-burst EEG activity, not previously associated with SZT2-related encephalopathy, were observed in this case. Although the seizures were controlled with carbamazepine, the developmental consequences remained profound, suggesting that the developmental impairments might be attributed to a direct effect of the SZT2 variants rather than the epileptic activity. We propose that SZT2 variants should be regarded among those that are believed to cause neonatal-onset developmental and epileptic encephalopathy with a suppression-burst pattern on EEG.

DOI： 10.1684/epd.2020.1187

PubMed

researchmap

記述言語：英語   掲載種別：研究論文（学術雑誌）  

Fibroblast growth-factor homologous factor (FHF1) gene variants have recently been associated with developmental and epileptic encephalopathy (DEE). FHF1 encodes a cytosolic protein that modulates neuronal sodium channel gating. We aim to refine the electroclinical phenotypic spectrum of patients with pathogenic FHF1 variants. We retrospectively collected clinical, genetic, neurophysiologic, and neuroimaging data of 17 patients with FHF1-DEE. Sixteen patients had recurrent heterozygous FHF1 missense variants: 14 had the recurrent p.Arg114His variant and two had a novel likely pathogenic variant p.Gly112Ser. The p.Arg114His variant is associated with an earlier onset and more severe phenotype. One patient carried a chromosomal microduplication involving FHF1. Twelve patients carried a de novo variant, five (29.5%) inherited from parents with gonadic or somatic mosaicism. Seizure onset was between 1 day and 41 months; in 76.5% it was within 30 days. Tonic seizures were the most frequent seizure type. Twelve patients (70.6%) had drug-resistant epilepsy, 14 (82.3%) intellectual disability, and 11 (64.7%) behavioral disturbances. Brain magnetic resonance imaging (MRI) showed mild cerebral and/or cerebellar atrophy in nine patients (52.9%). Overall, our findings expand and refine the clinical, EEG, and imaging phenotype of patients with FHF1-DEE, which is characterized by early onset epilepsy with tonic seizures, associated with moderate to severe ID and psychiatric features.

DOI： 10.1111/epi.16582

PubMed

researchmap

記述言語：英語   掲載種別：研究論文（学術雑誌）  

BACKGROUND: Rett syndrome (RTT) is a neurodevelopmental disorder that predominantly affects girls, resulting from a loss-of-function variant in X-linked MECP2. Here, we report a rare case of a girl with RTT with an X chromosome mosaic karyotype (46,XX/47,XXX). METHODS: Fluorescent in situ hybridization (FISH) was carried out to confirm the mosaic karyotype. Sanger sequencing was carried out to genetically diagnose RTT. Furthermore, we assessed the X chromosome inactivation (XCI) pattern. MECP2 expression levels were examined via RT-PCR. RESULTS: The patient presented with preserved speech variant, the milder form of RTT. Genetic examination revealed a de novo, heterozygous, truncating variant of MECP2. FISH revealed mosaicism in the 47,XXX karyotype in 6% of her cells. The XCI assay revealed unbalanced inactivation with skewing in favor of the paternal X chromosome. MECP2 was downregulated to only 84% of the control, indicating that the patient's variant was probably of paternal origin. Unbalanced XCI in this patient might have contributed to the alleviation of the phenotype. However, her supernumerary X chromosome was derived from maternal X chromosome harboring the wild-type allele and might have had no preferential effect on her RTT-related phenotype. CONCLUSION: The present results indicate that phenotypic effects of X chromosome aneuploidy depend on the nature of the supernumerary X chromosome, the pattern of mosaicism, and XCI status.

DOI： 10.1002/mgg3.1122

PubMed

researchmap

記述言語：英語   掲載種別：研究論文（学術雑誌）  

BACKGROUND: Rett syndrome (RTT) is a neurodevelopmental disorder that predominantly affects girls. Its causative gene is the X-linked MECP2 encoding the methyl-CpG-binding protein 2 (MeCP2). The gene comprises four exons and generates two isoforms, namely MECP2_e1 and MECP2_e2. However, it remains unclear whether both MeCP2 isoforms have similar function in the brain. METHODS: We report a case of a boy with typical RTT. Male cases with MECP2 variants have been considered inviable, but somatic mosaicism of the variants can cause RTT in males. Whole-exome sequencing was performed to search for the genetic background. RESULTS: A novel nonsense and mosaic variant was identified in exon 1 of MECP2, and the variant allele fraction (VAF) was 28%. Our patient had the same level of VAF as that in reported male cases with mosaic variants in MECP2 exon 3 or 4, but manifested RTT symptoms that were milder in severity compared to those in these patients. CONCLUSION: This is probably because the variants in MECP2 exon 3 or 4 disrupt both isoforms of MeCP2, whereas the variant in exon 1, as presented in this study, disrupts only MeCP2_e1 but not MeCP2_e2. Therefore, our findings indicate that MeCP2_e2 may partially compensate for a deficiency in MeCP2_e1.

DOI： 10.1002/mgg3.1088

PubMed

researchmap

記述言語：日本語   掲載種別：研究論文（学術雑誌）  

5歳時に中心側頭部に棘波を示す良性癲癇(BECTS)を発症し発作頻度の高かった女児例を経験し、抗癲癇薬カルバマゼピン(CBZ)による治療を行った。CBZは発作のコントロールには有効であったが、睡眠期の癲癇性放電の出現頻度が増加した。抗癲癇薬をクロバザムに変更したところ癲癇性放電は消失したが、その効果は一時的であった。しかし、脳波所見の悪化に伴う認知行動異常は認めなかったため、抗癲癇薬による治療を中止して経過をみる方針とした。経過観察中も脳波検査で癲癇性放電を認めたが、癲癇発作の再燃はなく、10歳の現在まで認知行動異常の出現も認めていない。

researchmap

記述言語：日本語   出版者・発行元：日本てんかん学会-北海道地方会  

8歳男児。2歳頃から精神運動発達の遅れが顕在化し、3歳時の新版K式発達検査では全領域発達指数70であった。4歳時に非誘発性の全身痙攣を認め、焦点癲癇と診断されVPAによる治療が開始された。その後、焦点意識減損発作重積で入院となるエピソードが数回あったが、LTG・CLB併用療法を開始されて以来、発作は消失していた。6歳5ヵ月時、活気がなくなり、問いかけに対する反応も鈍くなり、脳波検査で異常所見を認められ、精査加療目的で当科に紹介された。睡眠期持続性棘徐波を示す癲癇性脳症と診断し、ジアゼパム大量療法を行ったところ脳波所見は速やかに改善し臨床症状も改善した。ジアゼパムは約4ヵ月かけて漸減中止したが、終了後2ヵ月も経たずに認知機能が再び低下した。7歳5ヵ月時に脳波所見の悪化を認め、メチルプレドニゾロンパルス療法を2クール施行したところ脳波所見・臨床症状とも著明に改善し、1年以上経過している現在まで発作の再燃や脳波所見の悪化は認めていない。

researchmap

記述言語：英語   掲載種別：研究論文（学術雑誌）  

A heterozygous mutation in the fibroblast growth factor 12 (FGF12) gene, which elevates the voltage dependence of neuronal sodium channel fast inactivation, was recently identified in some patients with epileptic encephalopathy. Here we report 1 Japanese patient diagnosed with early infantile epileptic encephalopathy (EIEE) and another diagnosed with epilepsy of infancy with migrating focal seizures (EIMFS). These 2 patients had an identical heterozygous missense mutation [c.341G>A:p.(Arg114His)] in FGF12 , which was identified with whole-exome sequencing. This mutation is identical to previously reported mutations in cases with early onset epileptic encephalopathy. One of our cases exhibited EIMFS, and this case responded to phenytoin and high-dose phenobarbital (PB). FGF12-related epileptic encephalopathy may exhibit diverse phenotypes and may respond to sodium channel blockers or high-dose PB.

DOI： 10.1016/j.braindev.2018.04.002

PubMed

researchmap

記述言語：日本語   出版者・発行元：(一社)日本てんかん学会  

researchmap

記述言語：日本語   掲載種別：研究論文（学術雑誌）  

著者らの施設における5年間(2011年1月～2015年12月)の新生児B群連鎖球菌(GBS)感染症の現況について検討した。その結果、妊婦GBSスクリーニング陽性率は12.4%であり、新生児GBS感染症の発症率は1.5/1000出生であった。このうち、早発型GBS感染症の発症率は0.5/1000出生、遅発型は1.0/1000出生であった。

researchmap

記述言語：日本語   出版者・発行元：名寄市立総合病院  

最近5年間に著者らが経験した学童期発症バセドウ病9例について検討した。年齢は7～14歳で、性別は男児2例、女児7例であった。初診時所見では頻脈を全例で認め、多汗8例、甲状腺腫7例、手指振戦6例、易疲労性5例、食欲亢進4例、眼球突出・落ち着きの無さが各3例、動悸・体重減少が各2例、下痢が1例でみられた。検査結果では、全例がTSH低値かつfT3高値で、TRAb・TSAbは全例で陽性を示した。抗TPO抗体は7例、抗Tg抗体は6例が陽性であった。甲状腺エコーでは8例で甲状腺腫大および血流増加が認められた。治療は全例でチアマゾールの内服にて開始したが、重篤な副作用は出現しなかった。経過中に甲状腺眼症を4例に認めたが、いずれも活動性が低く、無治療で経過観察中である。平均経過観察期間2年5ヵ月の時点で、全例が治療継続中である。

researchmap

担当区分：責任著者   記述言語：英語   掲載種別：研究論文（学術雑誌）  

PURPOSE: The authors report on a rare case of maternal virilization during pregnancy caused by autosomal recessive P450 oxidore- ductase (POR) deficiency. MATERIALS AND METHODS: A 24-year-old primigravida developed a deepening voice and hirsutism in the second trimester. Prenatal ultrasonography failed to detect any fetal abnormality and fetal growth was normal. POR deficiency was suspected, but the mother declined fetal genetic testing. A female neonate was delivered by cesarean section at 41 weeks' gestation. RESULTS: The neonate had skeletal abnormalities. Mutational analysis of the POR gene demonstrated homozygosity for c.1370 G>A and p.R457H in the patient and heterozygosity in her parents. POR deficiency was confirmed in the neonate. CONCLUSION: POR deficiency should be suspected in cases of maternal virilization. Maternal urinary estriol, fetal magnetic resonance imaging, and parental genetic testing should be performed. Parental consent for fetal genetic testing should be sought to ensure prompt diagnosis and early treatment.

researchmap

記述言語：日本語   掲載種別：研究論文（学術雑誌）  

新生児集中治療室(NICU)開設後の周産期データの変化を検討した。NICU開設前2年間と開設後2年間を比較した結果、NICU開設後には母体搬送数が減少し、早産児・低出生体重児の入院数と人工呼吸管理件数の増加を認めた。また、新生児搬送数には変化がなく、他施設からの慢性期の逆搬送数が増加したことが明らかとなった。

researchmap

記述言語：日本語   掲載種別：研究論文（学術雑誌）  

姉6歳、弟4歳10ヵ月、姉3歳6ヵ月時、弟2歳4ヵ月時に家族性高コレステロール血症ヘテロ型と診断され、食事療法を開始した。しかし、2例とも食事療法のみではコントロールが困難であり、薬物療法の開始推奨年齢より早期であったが、両親と相談の上でプラバスタチン内服を開始し、途中コレスチミドを併用した。現在、プラバスタチン20mg/日、コレスチミド1000mg/日で治療中であるが、薬物療法後3ヵ月目でLDLコレステロールは姉-22.3%、弟-42%と著明に減少した。また、総コレステロールとApo B/Aの減少、HDLコレステロールの増加を認めたが、他のデータに異常はなかった。

researchmap

担当区分：責任著者   記述言語：英語   掲載種別：研究論文（学術雑誌）  

OBJECTIVE: To evaluate the parameters associated with significant gastrointestinal (GI) involvement in Henoch-Schönlein Purpura (HSP), and construct a scoring system for the identification of patients at high risk of gross blood in stools. STUDY DESIGN: Data for HSP patients hospitalized at each of seven institutes were retrospectively analyzed. Patients were divided into four groups according to the consequent severity of GI involvement. Identification of laboratory parameters at the time of admission were then used to differentiate the groups, and a scoring system to predict gross intestinal bleeding was constructed. Prognostic efficiency, correlation with the subsequent duration of abdominal pain, and association with manifestations excluding abdominal pain were also analyzed. RESULTS: An analysis of variance (ANOVA) test showed significant intergroup differences in white blood cell (WBC) count, neutrophil count, serum albumin, potassium, plasma D-dimer and coagulation factor XIII activity. A scoring system consisting of these parameters showed a good prognostic value for gross intestinal bleeding in a receiver operating characteristic (ROC) analysis, and a cut-off value of 4 points showed a sensitivity of 90.0% and specificity of 80.6%. The score was also correlated with the duration of abdominal pain after admission. A significantly higher score (s) was observed in patients presenting with nephritis, although the predictive value was poor. CONCLUSION: A scoring system consisting of generally available parameters was of use in predicting severe GI involvement in HSP patients. Although further study is needed, initial therapy in accordance with disease activity may be taken into consideration using this scoring system.

DOI： 10.1186/2193-1801-3-171

researchmap

記述言語：日本語   出版者・発行元：(一社)日本小児救急医学会  

【背景と目的】北海道宗谷・上川北部地方は冬期間の平均気温が氷点下に達する寒冷地域である。また、過疎地域であり分娩施設の集約化が進んでいる。当地域における施設外分娩の実態を明らかにすることで、寒冷/過疎地域の施設外分娩で必要とされる対応を検討する。【対象と方法】2001年～2011年の11年間に市立稚内病院及び名寄市立総合病院に搬送された施設外分娩を対象とした。【結果】対象期間中の全分娩数10116例のうち施設外分娩は16例で、発生率は0.16%であった。合併症は低体温・低血糖が多かった。冬季出生例では全例が低体温を発症した。遠距離在住者では施設外分娩の発生率が高い傾向があり(0.23%vs0.10%、有意差はなし)、搬送中に分娩に至った例があった。【考察】寒冷地域・過疎地域の施設外分娩においては、出生児の保温の重要性がより高く、遠距離搬送中の車中分娩にも対応できる体制を整える必要がある。(著者抄録)

researchmap

記述言語：日本語   掲載種別：研究論文（学術雑誌）  

今回私たちは,2005年から2009年までの5年間で経験した未受診妊婦(妊婦健診3回未満の妊婦)から出生した超低出生体重児5症例をまとめた。5例中の2例が死亡し,1例が明らかなメジャーハンディキャップを有し,死亡率は40%と予後が不良であった。同一期間に入院した超低出生体重児は65名で上記5例を除く定期的に妊婦健診を受診していた60名中の死亡例は8例で,死亡率は13.3%であった。この5例の未受診妊婦が定期的に妊婦健診を受診していればこの状況を回避できた可能性がある。これらの症例に費やす医療費を考慮すると充実した妊婦健診への助成は医療経済的にも有意義であり,生まれくる子供たちにとって,さらにまた母体合併症に対する管理および治療も可能であることを考えると妊婦自体,そしてさらにその家族にも大きな恩恵を与えうるものと考えられる。定期的な妊婦健診の重要性を再認識するとともに,妊婦健診の重要性を啓蒙し,さらに2009年度から施行されている妊婦健診の公的助成に関する情報提供を確実にして行くことが必要であると感じた。今回はこれら5例をまとめて,その経過および家族・社会的背景について報告する。(著者抄録)

researchmap

開催年月日： 2020年10月

記述言語：日本語   会議種別：口頭発表（一般）  

researchmap

開催年月日： 2020年2月

記述言語：日本語   会議種別：口頭発表（一般）  

researchmap

開催年月日： 2020年2月

記述言語：日本語   会議種別：口頭発表（一般）  

researchmap

開催年月日： 2019年5月 - 2019年6月

記述言語：日本語   会議種別：口頭発表（一般）  

researchmap

開催年月日： 2018年9月

記述言語：日本語   会議種別：口頭発表（一般）  

researchmap

開催年月日： 2018年5月 - 2018年6月

記述言語：日本語   会議種別：口頭発表（一般）  

researchmap

開催年月日： 2017年6月

記述言語：日本語   会議種別：ポスター発表  

researchmap

開催年月日： 2017年4月

記述言語：日本語   会議種別：口頭発表（一般）  

researchmap

開催年月日： 2017年3月

記述言語：日本語   会議種別：口頭発表（一般）  

researchmap

開催年月日： 2016年5月

記述言語：日本語   会議種別：口頭発表（一般）  

researchmap

開催年月日： 2015年11月

記述言語：日本語   会議種別：口頭発表（一般）  

researchmap

開催年月日： 2015年9月

記述言語：日本語   会議種別：口頭発表（一般）  

researchmap

開催年月日： 2014年9月

記述言語：日本語   会議種別：口頭発表（一般）  

researchmap

開催年月日： 2013年9月

記述言語：日本語   会議種別：口頭発表（一般）  

researchmap

開催年月日： 2012年9月

記述言語：日本語   会議種別：口頭発表（一般）  

researchmap

開催年月日： 2012年6月

記述言語：日本語   会議種別：口頭発表（一般）  

researchmap

開催年月日： 2011年9月

記述言語：日本語   会議種別：口頭発表（一般）  

researchmap

開催年月日： 2011年2月

記述言語：日本語   会議種別：口頭発表（一般）  

researchmap

開催年月日： 2010年9月

記述言語：日本語   会議種別：口頭発表（一般）  

researchmap

researchmap

researchmap

researchmap