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Brain & Development

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https://www.readbyqxmd.com/read/28629604/novel-fkrp-mutations-in-a-japanese-mdc1c-sibship-clinically-diagnosed-with-fukuyama-congenital-muscular-dystrophy
#1
Mieko Yoshioka, Kazuhiro Kobayashi, Tatsushi Toda
INTRODUCTION: Fukuyama congenital muscular dystrophy (FCMD), caused by fukutin mutations, is the most common form of Japanese CMD. We followed a Japanese CMD sibship without fukutin mutation, and herein identified new FKRP mutations causing MDC1C rarely reported in Oriental countries. PATIENTS: Two affected siblings, individuals 1 (I-1, male) and 2 (I-2, female), were born uneventfully to unaffected, non-consanguineous parents. Severe hypotonia was soon apparent and serum CK levels were elevated: I-1: 1025 IU/L (normal range <130 IU/L) and I-2: 5350 IU/L...
June 16, 2017: Brain & Development
https://www.readbyqxmd.com/read/28624135/effectiveness-of-vitamin-k2-on-osteoporosis-in-adults-with-cerebral-palsy
#2
Yuichi Kodama, Yasuhiro Okamoto, Tomohiro Kubota, Yoshifumi Hiroyama, Hiroshi Fukami, Kensuke Matsushita, Yoshifumi Kawano
BACKGROUND: Osteoporosis can lead to spontaneous fractures in adults with cerebral palsy (CP). Undercarboxylated osteocalcin (ucOC) is a useful marker for vitamin K insufficiency in osteoporosis. The primary objective of this study was to determine the effect of vitamin K2 on bone mineral density (BMD) in adults with CP and vitamin K insufficiency. METHODS: Sixteen adults, median age of 56years, with CP and osteoporosis in whom the serum ucOC concentration exceeded 4...
June 14, 2017: Brain & Development
https://www.readbyqxmd.com/read/28601407/relationships-between-long-term-observations-of-motor-milestones-and-genotype-analysis-results-in-childhood-onset-japanese-spinal-muscular-atrophy-patients
#3
Kaori Kaneko, Reiko Arakawa, Mari Urano, Ryoko Aoki, Kayoko Saito
AIM: To clarify the long-term natural history of SMA in Japanese patients by investigating the peak motor milestones of cases 7months through 57years of age, in efforts to contribute to evaluating outcomes of new therapeutic interventions. METHODS: We sub-classified 112 SMA type I-III cases into type Ia, type Ib, type IIa, type IIb, type IIIa and type IIIb, according to peak motor milestone achieved, and analyzed the SMN1, SMN2 and NAIP genes in relation to clinical subtypes...
June 7, 2017: Brain & Development
https://www.readbyqxmd.com/read/28587793/miglustat-therapy-in-a-case-of-early-infantile-niemann-pick-type-c
#4
Miho Usui, Akihiko Miyauchi, Yuko Nakano, Sachie Nakamura, Eriko Jimbo, Shinji Itamura, Kaori Adachi, Eiji Nanba, Aya Narita, Takanori Yamagata, Hitoshi Osaka
Niemann-Pick disease type C (NPC) is a rare, progressive autosomal recessive disease. It is caused by mutations in either the NPC1 or NPC2 genes, resulting in defective regulation of intracellular lipid trafficking. Miglustat, which reversibly inhibits glucosylceramide synthase, reportedly has beneficial effects on the progressive neurological symptoms of NPC and was approved in Japan in 2012. Some reports suggested that miglustat therapy delayed the onset or progression of NPC when treatment was initiated before the onset of neurological manifestation or at an early stage...
June 3, 2017: Brain & Development
https://www.readbyqxmd.com/read/28578817/childhood-idiopathic-spinal-cord-infarction-description-of-7-cases-and-review-of-the-literature
#5
Claire Bar, Emmanuel Cheuret, Pierre Bessou, Jean-Michel Pedespan
OBJECTIVES: To describe the clinical course, neuroimaging findings and functional outcome of idiopathic spinal cord infarction (SCI) in adolescents. METHODS: Retrospective and descriptive analyses of seven patients with idiopathic SCI and 50 additional cases from the literature were included. Data collected concerned clinical presentation, MRI findings, initial diagnosis, treatments and functional outcome at the last medical visit. RESULTS: Mean age at presentation was 13...
May 31, 2017: Brain & Development
https://www.readbyqxmd.com/read/28578816/characteristics-of-headaches-in-japanese-elementary-and-junior-high-school-students-a-school-based-questionnaire-survey
#6
Masahide Goto, Koji Yokoyama, Yasuyuki Nozaki, Koichi Itoh, Ryou Kawamata, Shizuko Matsumoto, Takanori Yamagata
PURPOSE: Few studies have investigated pediatric headaches in Japan. Thus, we examined the lifetime prevalence and characteristics of headaches among elementary and junior high school students in Japan. METHODS: In this school-based study, children aged 6-15years completed a questionnaire based on the diagnostic criteria of the International Classification of Headache Disorders-3β to assess headache characteristics and related disability. RESULTS: Of the 3285 respondents, 1623 (49...
May 31, 2017: Brain & Development
https://www.readbyqxmd.com/read/28578815/three-years-experience-with-the-first-pediatric-hospice-in-asia
#7
Kohei Ando, Makoto Nabetani, Nobuyuki Yotani, Tatsushi Rin, Hiroyuki Sano
OBJECTIVE: Pediatric hospice has been the adoption of several service provision models in highly developed countries such as UK, Germany, Australia or Canada for a few decades, yet it has seldom been the case in the Asian Continent. This study aimed to evaluate the newest challenge for the children with Life-threatening illness (LTI) and described the characteristic of pediatric palliative care at the first pediatric hospice in Japan. METHODS: A retrospective review of all patients at our pediatric hospice in these three years was conducted...
May 31, 2017: Brain & Development
https://www.readbyqxmd.com/read/28578814/cardiac-involvement-in-fukuyama-muscular-dystrophy-is-less-severe-than-in-duchenne-muscular-dystrophy
#8
Tetsushi Yamamoto, Mariko Taniguchi-Ikeda, Hiroyuki Awano, Masaaki Matsumoto, Tomoko Lee, Risa Harada, Takamitsu Imanishi, Nobuhide Hayashi, Yoshitada Sakai, Ichiro Morioka, Yasuhiro Takeshima, Kazumoto Iijima, Jun Saegusa, Tatsushi Toda
BACKGROUND: One of the main complications in patients with muscular dystrophies is cardiac dysfunction. The literature on cardiac involvement in patients with Fukuyama congenital muscular dystrophy (FCMD) is limited. AIM: To compare cardiac involvement between patients with FCMD and Duchenne muscular dystrophy (DMD). METHODS: We compared cardiac involvement between 30 patients with FCMD and 181 patients with DMD using echocardiography and serum biomarkers...
May 31, 2017: Brain & Development
https://www.readbyqxmd.com/read/28552323/clinical-and-molecular-analysis-of-six-novel-galc-mutations-identified-in-7-chinese-children-with-krabbe-disease
#9
Lifang Dai, Tongli Han, Xinying Yang, Xu Wang, Jiuwei Li, Junlan Lu, Wuchang Zhang, Xiaotun Ren, Fang Fang
BACKGROUND: Krabbe disease is an autosomal recessive leukodystrophy caused by the deficiency of the galactocerebrosidase (GALC). GALC deficiency results in abnormal accumulation of galactosylsphingosine (psychosine) which cause demyelination of the central and peripheral nervous systems. OBJECTIVE: To identify clinical manifestation and GALC mutations in Chinese Krabbe disease patients. METHODS: We used targeted next-generation sequencing to identify GALC mutations in Chinese patients with white matter disease...
May 25, 2017: Brain & Development
https://www.readbyqxmd.com/read/28551039/clinical-features-in-very-early-onset-demyelinating-disease-with-anti-mog-antibody
#10
Masahiro Nishiyama, Hiroaki Nagase, Masaaki Matsumoto, Kazumi Tomioka, Hiroyuki Awano, Tsukasa Tanaka, Daisaku Toyoshima, Kyoko Fujita, Azusa Maruyama, Yoshinobu Oyazato, Keisuke Saeki, Kazuhiro Shiraishi, Satoshi Takada, Kimihiko Kaneko, Toshiyuki Takahashi, Ichiro Nakashima, Kazumoto Iijima
BACKGROUND: The clinical features of patients with very early-onset acquired demyelinating syndrome (ADS) with the anti-myelin oligodendrocyte glycoprotein (MOG) antibody are unknown. We investigated the clinical characteristics and described detailed treatment of weekly intramuscular interferon β-1a (IFNβ-1a) in children aged <4years with ADS and the anti-MOG antibody. METHODS: We conducted a retrospective chart review of patients with anti-MOG positivity who were diagnosed as having multiple sclerosis (MS) at <4years of age...
May 24, 2017: Brain & Development
https://www.readbyqxmd.com/read/28551038/clinical-features-of-a-female-with-wdr45-mutation-complicated-by-infantile-spasms-a-case-report-and-literature-review
#11
Manami Morikawa, Kyoko Takano, Mitsuo Motobayashi, Naoko Shiba, Tomoki Kosho, Yozo Nakazawa, Yuji Inaba
We present a 3-year-old girl with beta-propeller protein-associated neurodegeneration (BPAN) who had a de novo heterozygous splice-site mutation of c.831-1G>C in WDR45 and developed infantile spasms; her onset age of infantile spasms was relatively late. Her infantile spasms and hypsarrhythmia disappeared promptly by adrenocorticotropic hormone therapy (CORTROSYN®Z, 0.0125mg/kg/day daily for 2weeks intramuscularly), though the administration of pyridoxal phosphate and valproic acid had poor efficacy. BPAN is known to be associated with various types of seizures, but there are few reports on infantile spasms, especially in females...
May 24, 2017: Brain & Development
https://www.readbyqxmd.com/read/28551037/a-child-with-acute-transverse-myelitis-requiring-permanent-pacemaker-implantation
#12
Masataka Fukuoka, Ichiro Kuki, Asako Horino, Kiyohiro Kim, Yuka Hattori, Hitomi Tsuji, Megumi Nukui, Shin Okazaki, Hisashi Kawawaki, Yoko Yoshida, Jyunichi Ishikawa, Hiroshi Rinka
We diagnosed a 3-year-old girl with acute transverse myelitis (ATM). She presented with weakness of the limbs and developed urination difficulty and respiratory disturbance. Magnetic resonance imaging revealed a symmetric area of high signal intensity on T2-weighted images involving the lower end of the medulla oblongata to the level of the fourth thoracic vertebra. Anti-aquaporin-4 antibody was negative. She was treated with intravenous methylprednisolone pulse therapy, immunoglobulin therapy, and plasmapheresis; however, her clinical symptoms did not change...
May 24, 2017: Brain & Development
https://www.readbyqxmd.com/read/28551036/a-patient-with-muenke-syndrome-manifesting-migrating-neonatal-seizures
#13
Yukimune Okubo, Taro Kitamura, Mai Anzai, Wakaba Endo, Takehiko Inui, Yusuke Takezawa, Sato Suzuki-Muromoto, Takuya Miyabayashi, Noriko Togashi, Hiroshi Oba, Hirotomo Saitsu, Naomichi Matsumoto, Kazuhiro Haginoya
We report a patient with Muenke syndrome who had repetitive apneic spell followed by focal status epilepticus in the early infancy. Ictal EEG showed focal spikes bursts originated from the left hemisphere and sifted to the right hemisphere, during which he had migrating tonic seizures from right side of the body to the left side of the body. Brain MRI showed abnormal development of bilateral hippocampus, which was characterized as abnormal folding of hippocampal gyri. However, the long-term seizure prognosis was favorable...
May 24, 2017: Brain & Development
https://www.readbyqxmd.com/read/28549713/childhood-opsoclonus-myoclonus-syndrome-a-case-series-from-tunisia
#14
Nedia Ben Achour, Saloua Mrabet, Ibtihel Rebai, Ines Abid, Hanene Benrhouma, Hedia Klaa, Aida Rouissi, Ichraf Kraoua, Ilhem Ben Youssef Turki
INTRODUCTION: Opsoclonus myoclonus syndrome (OMS) is a rare immune-mediated disorder characterized by opsoclonus, myoclonus, ataxia and behavioral changes. The aim of our study was to investigate the epidemiology, clinical features, etiological aspects and outcome of OMS in Tunisian children. METHODS: We conducted a retrospective study over 11years (2005-2016) including all patients aged under 18years who were managed for newly diagnosed OMS in a tertiary care research centre for children with neurological symptoms...
May 23, 2017: Brain & Development
https://www.readbyqxmd.com/read/28545980/altered-brain-function-in-new-onset-childhood-acute-lymphoblastic-leukemia-before-chemotherapy-a-resting-state-fmri-study
#15
Zhanqi Hu, Dongfang Zou, Huirong Mai, Xiuli Yuan, Lihong Wang, Yue Li, Jianxiang Liao, Liwei Liu, Guosheng Liu, Hongwu Zeng, Feiqiu Wen
OBJECTIVE: Cognitive impairments had been reported in childhood acute lymphoblastic leukemia, what caused the impairments needed to be demonstrated, chemotherapy-related or the disease itself. The primary aim of this exploratory investigation was to determine if there were changes in brain function of children with acute lymphoblastic leukemia before chemotherapy. METHODS: In this study, we advanced a measure named regional homogeneity to evaluate the resting-state brain activities, intelligence quotient test was performed at same time...
May 22, 2017: Brain & Development
https://www.readbyqxmd.com/read/28533076/letter-to-the-editor-a-case-of-guillain-barr%C3%A3-syndrome-with-meningeal-irritation
#16
LETTER
Ibtihel Rebai, Nedia Ben Achour, Emna El Mabrouk, Ichraf Kraoua, Ilhem Ben Youssef-Turki
No abstract text is available yet for this article.
May 19, 2017: Brain & Development
https://www.readbyqxmd.com/read/28527815/neuroimaging-and-neuropathological-characteristics-of-cerebellar-injury-in-extremely-low-birth-weight-infants
#17
Mayumi Matsufuji, Nozomi Sano, Hisashi Tsuru, Sachio Takashima
OBJECTIVE: To determine the morphological characteristics and pathogenic factors of cerebellar injury in extremely low birth weight infants (ELBWI). SUBJECTS AND METHODS: Neuroimaging examination was performed on 17 eligible surviving ELBWI. Their MR images were assessed and classified its pattern of cerebellar injuries. Brain pathology was examined on 15 patients, who isolated this neuroimaging subjects. The trend of brain pathologies was revealed. RESULTS: Four types of morphological pattern were recognized: (i) the absence of major portions in the cerebellum (6/17 cases); (ii) focal cerebellar tissue loss (2/17); (iii) unilateral cerebellar atrophy/hypoplasia (3/17); (iv) small cerebellum with entrapped fourth ventricle (6/17)...
May 17, 2017: Brain & Development
https://www.readbyqxmd.com/read/28522225/genetic-screening-of-spinal-muscular-atrophy-using-a-real-time-modified-cop-pcr-technique-with-dried-blood-spot-dna
#18
Mawaddah Ar Rochmah, Nur Imma Fatimah Harahap, Emma Tabe Eko Niba, Kenta Nakanishi, Hiroyuki Awano, Ichiro Morioka, Kazumoto Iijima, Toshio Saito, Kayoko Saito, Poh San Lai, Yasuhiro Takeshima, Atsuko Takeuchi, Yoshihiro Bouike, Maya Okamoto, Hisahide Nishio, Masakazu Shinohara
BACKGROUND: Spinal muscular atrophy (SMA) is a common neuromuscular disorder caused by mutations in SMN1. More than 95% of SMA patients carry homozygous SMN1 deletion. SMA is the leading genetic cause of infant death, and has been considered an incurable disease. However, a recent clinical trial with an antisense oligonucleotide drug has shown encouraging clinical efficacy. Thus, early and accurate detection of SMN1 deletion may improve prognosis of many infantile SMA patients. METHODS: A total of 88 DNA samples (37 SMA patients, 12 carriers and 39 controls) from dried blood spots (DBS) on filter paper were analyzed...
May 15, 2017: Brain & Development
https://www.readbyqxmd.com/read/28522224/melas-leigh-overlap-syndrome-due-to-the-nd6-mutation-m-10158t-c
#19
LETTER
Josef Finsterer, Sinda Zarrouk-Mahjoub
No abstract text is available yet for this article.
May 15, 2017: Brain & Development
https://www.readbyqxmd.com/read/28501474/a-case-of-mumps-related-acute-encephalopathy-with-biphasic-seizures-and-late-reduced-diffusion
#20
Kyoko Hazama, Takashi Shiihara, Hiroyuki Tsukagoshi, Shunji Hasegawa, Yuri Dowa, Mio Watanabe
BACKGROUND: Mumps is a common childhood viral disease characterized by fever and swelling of the parotid gland. The prognosis is generally good, although some complications, such as encephalitis (0.1%), exist. Acute encephalopathy with biphasic seizures and late reduced diffusion is the most common type of acute encephalopathy. However, this type of encephalopathy has not been reported in association with mumps infection. PATIENT: A previously healthy 3-year-old Japanese boy had a brief convulsion after fever for 3days, and then had conscious disturbance and parotitis...
May 10, 2017: Brain & Development
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