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Brain & Development

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https://www.readbyqxmd.com/read/28413125/transient-dysautonomia-in-an-acute-phase-of-encephalopathy-with-biphasic-seizures-and-late-reduced-diffusion
#1
Yuko Ichimiya, Noriyuki Kaku, Yasunari Sakai, Fumiya Yamashita, Wakato Matsuoka, Mamoru Muraoka, Satoshi Akamine, Soichi Mizuguchi, Michiko Torio, Yoshitomo Motomura, Yuichiro Hirata, Yoshito Ishizaki, Masafumi Sanefuji, Hiroyuki Torisu, Hidetoshi Takada, Yoshihiko Maehara, Shouichi Ohga
Paroxysmal sympathetic hyperactivity (PSH) is a dysautonomic condition that is associated with various types of acquired brain injuries. Traumatic brain lesions have been documented as the leading cause of PSH. However, detailed clinical features of pediatric PSH caused by intrinsic brain lesions remain to be elusive. We present a 3-year-old boy, who had been diagnosed as having cerebral palsy, developmental delay and epilepsy after perinatal hypoxia-induced brain injury. He developed status epilepticus with fever on the third day of respiratory infection...
April 13, 2017: Brain & Development
https://www.readbyqxmd.com/read/28404210/characteristics-of-epilepsy-in-patients-with-kabuki-syndrome-with-kmt2d-mutations
#2
Naoko Kurahashi, Noriko Miyake, Seiji Mizuno, Eriko Koshimizu, Hirokazu Kurahashi, Keitaro Yamada, Jun Natsume, Yusuke Aoki, Miho Nakamura, Hiroko Taniai, Yuki Maki, Chihiro Abe-Hatano, Naomichi Matsumoto, Koichi Maruyama
BACKGROUND: The characteristics of epilepsy in patients with Kabuki syndrome with KMT2D mutations (KABUK1) have not yet been well documented. This is the first review to explore this. MATERIALS & METHODS: We enrolled 14 patients with KABUK1, whose median age was 13.6years (range=4.1-21.3years). Their medical records from October 1981 to May 2016 were retrospectively analyzed. RESULTS: Epilepsy was present in 5 (36%) patients. Four of these patients presented with nonsense mutations and one with missense mutations...
April 9, 2017: Brain & Development
https://www.readbyqxmd.com/read/28395974/antidepressant-like-activity-of-icariin-mediated-by-group-i-mglurs-in-prenatally-stressed-offspring
#3
Xiaoxiao Zhang, Hongli Sun, Qian Su, Tianwei Lin, Huiping Zhang, Junli Zhang, Shaokang Dang, Zhongliang Zhu
OBJECTIVE: The present study was performed to identify antidepressant-like activity of icariin in prenatally stressed male rats. METHODS: The effects of icariin on PRS-induced depression were examined using sucrose preference test (SPT) and forced swimming test (FST) in male offspring, and measuring protein and mRNA expressions of group I mGluRs receptors and EAAT2 via western blotting and quantitative real-time PCR assays. RESULTS: The results indicated that prenatal restraint stress (PRS) resulted in several behavioral anomalies...
April 7, 2017: Brain & Development
https://www.readbyqxmd.com/read/28390761/the-aav-mediated-and-rna-guided-crispr-cas9-system-for-gene-therapy-of-dmd-and-bmd
#4
REVIEW
Jing-Zhang Wang, Peng Wu, Zhi-Min Shi, Yan-Li Xu, Zhi-Jun Liu
Mutations in the dystrophin gene (Dmd) result in Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD), which afflict many newborn boys. In 2016, Brain and Development published several interesting articles on DMD treatment with antisense oligonucleotide, kinase inhibitor, and prednisolone. Even more strikingly, three articles in the issue 6271 of Science in 2016 provide new insights into gene therapy of DMD and BMD via the clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated protein 9 (Cas9)...
April 5, 2017: Brain & Development
https://www.readbyqxmd.com/read/28377151/treatment-of-intractable-seizure-in-wolf-hirschhorn-syndrome-with-bromide
#5
LETTER
Inn-Chi Lee, Syuan-Yu Hong
No abstract text is available yet for this article.
April 1, 2017: Brain & Development
https://www.readbyqxmd.com/read/28377150/developmental-changes-in-autonomic-responses-are-associated-with-future-reward-punishment-expectations-a-study-of-sympathetic-skin-responses-in-the-markov-decision-task
#6
Hiromi Hosaka, Kakuro Aoyagi, Yoshimi Kaga, Hideaki Kanemura, Kanji Sugita, Masao Aihara
OBJECTIVE: Autonomic nervous system activity is recognized as a major component of emotional responses. Future reward/punishment expectations depend upon the process of decision making in the frontal lobe, which is considered to play an important role in executive function. The aim of this study was to investigate the relationship between autonomic responses and decision making during reinforcement tasks using sympathetic skin responses (SSR). METHODS: Nine adult and 9 juvenile (mean age, 10...
April 1, 2017: Brain & Development
https://www.readbyqxmd.com/read/28366534/sma-mutations-in-smn-tudor-and-c-terminal-domains-destabilize-the-protein
#7
Toru Takarada, Mawaddah Ar Rochmah, Nur Imma Fatimah Harahap, Masakazu Shinohara, Toshio Saito, Kayoko Saito, Poh San Lai, Yoshihiro Bouike, Yasuhiro Takeshima, Hiroyuki Awano, Ichiro Morioka, Kazumoto Iijima, Hisahide Nishio, Atsuko Takeuchi
BACKGROUND AND PURPOSE: Most spinal muscular atrophy (SMA) patients are homozygous for survival of motor neuron 1 gene (SMN1) deletion. However, some SMA patients carry an intragenic SMN1 mutation. Such patients provide a clue to understanding the function of the SMN protein and the role of each domain of the protein. We previously identified mutations in the Tudor domain and C-terminal region of the SMN protein in three Japanese SMA patients. To clarify the effect of these mutations on protein stability, we conducted expression assays of SMN with mutated domains...
March 30, 2017: Brain & Development
https://www.readbyqxmd.com/read/28365067/the-utility-of-a-phase-angle-analysis-in-patients-with-severe-motor-and-intellectual-disabilities
#8
Motomu Yoshida, Kimio Asagiri, Suguru Fukahori, Yoshiaki Tanaka, Naoki Hashizume, Shinji Ishii, Nobuyuki Saikusa, Naruki Higashidate, Daisuke Masui, Naoko Komatsuzaki, Hirotomo Nakahara, Minoru Yagi, Yushiro Yamashita
PURPOSE: The purpose of the present study was to evaluate whether evaluating the phase angle (PhA), in a bioelectrical impedance analysis (BIA) is useful for estimating the nutritional status of severe motor and intellectual disabilities (SMID) patients. SUBJECTS AND METHODS: This retrospective study included 31 SMID patients (mean age: 33.9±13.5years, median age: 29years (range: 18-58years), male/female: 23/8). First, each of the parameters from the total study population and the male and female SMID patients were compared with those of healthy Asian subjects...
March 29, 2017: Brain & Development
https://www.readbyqxmd.com/read/28351596/brain-edema-with-clasmatodendrosis-complicating-ataxia-telangiectasia
#9
Konomi Shimoda, Masakazu Mimaki, Shuhei Fujino, Masato Takeuchi, Rumi Hino, Hiroshi Uozaki, Masaharu Hayashi, Akira Oka, Masashi Mizuguchi
Ataxia-telangiectasia is a chronic progressive disorder affecting the nervous and immune systems, caused by a genetic defect in the ATM protein. Clasmatodendrosis, a distinct form of astroglial death, has rarely been reported in ataxia-telangiectasia. Neuropathology of our patient disclosed diffuse edema of the cerebral and cerebellar white matter with prominent clasmatodendrosis, implicating ATM in the regulation of astroglial cell death.
March 25, 2017: Brain & Development
https://www.readbyqxmd.com/read/28347595/increased-cortisol-awakening-response-after-completing-the-summer-treatment-program-in-children-with-adhd
#10
Rumiko Okabe, Hisayoshi Okamura, Chiyomi Egami, Yasuhiro Tada, Chizuru Anai, Akiko Mukasa, Akiko Iemura, Shinichiro Nagamitsu, Junichi Furusho, Toyojiro Matsuishi, Yushiro Yamashita
OBJECTIVE: Little is known about the cortisol awakening response (CAR) in children with attention deficit hyperactivity disorder (ADHD). Here, we examined the CAR in children with ADHD and their mothers before, immediately after, and 4months after an intensive summer treatment program (STP). METHODS: Participants were 37 children aged 7-12years who completed the STP in 2009 and 2010, and their mothers. Daily saliva samples for cortisol measurement were collected twice daily at awakening and 30min afterwards at pre-STP, post-STP, and during a follow-up measurement period...
March 24, 2017: Brain & Development
https://www.readbyqxmd.com/read/28336122/familial-acute-necrotizing-encephalopathy-with-ranbp2-mutation-the-first-report-in-northeast-asia
#11
Yun-Jeong Lee, Su-Kyeong Hwang, So Mi Lee, Soonhak Kwon
BACKGROUND: Acute necrotizing encephalopathy (ANE) is a rare but rapidly progressing encephalopathy following a febrile illness, commonly a viral infection. It is characterized by the features of acute encephalopathy such as seizure, alteration of consciousness, and symmetric involvement of the bilateral thalamus on neuroimaging tests. Although most ANE cases have occurred sporadically, familial or recurrent ANE has been reported in Caucasian patients, with genetic susceptibility to ANE noted in some patients due to a RANBP2 mutation...
March 20, 2017: Brain & Development
https://www.readbyqxmd.com/read/28325525/clinical-heterogeneity-of-glycine-encephalopathy-in-three-palestinian-siblings-a-novel-mutation-in-the-glycine-decarboxylase-gldc-gene
#12
Waseem Khraim, Bassam Abu-Libdeh, Suhail Ayesh, Imad Dweikat
INTRODUCTION: Glycine encephalopathy (GE), also known as non-ketotic hyperglycinemia (NKH), is a rare inborn error of glycine metabolism caused by a defect in glycine cleavage system, a multi-enzyme complex located in mitochondrial membrane. This defect results in elevated glycine concentration in plasma and cerebrospinal fluid (CSF). Clinical manifestations vary from severe lethargy, hypoactivity and apneic episodes in the neonatal form, mild or moderate psychomotor delay and seizures in the infantile form, and abnormal behaviors, ataxia and choreoathetoid movements in late onset form...
March 18, 2017: Brain & Development
https://www.readbyqxmd.com/read/28318781/spinal-fusion-in-a-patient-with-fukuyama-congenital-muscular-dystrophy
#13
Kaori Hino, Mitsumasa Fukuda, Tadao Morino, Tadanori Ogata, Masanori Ito, Eiichi Ishii
Many studies have evaluated surgical treatments for spinal deformities in patients with neuromuscular disease. However, few reports have described patients with Fukuyama congenital muscular dystrophy (FCMD). A 13-year-old boy with FCMD was unable to sit for long periods or sleep in the supine position because of progressive scoliosis. His Cobb angle worsened from 27° to 41° in 5months. He underwent standard posterior spinal fusion and pedicle-screw-alone fixation from T5 to S1. Postoperatively, his Cobb angle improved from 41° to 25° without exacerbation for 2years...
March 16, 2017: Brain & Development
https://www.readbyqxmd.com/read/28318780/surface-electromyogram-and-muscle-ultrasonography-for-detection-of-muscle-fasciculations-in-pediatric-peripheral-neuropathy
#14
Masayoshi Oguri, Yoshiaki Saito, Tetsuya Okazaki, Wataru Matsumura, Koyo Ohno, Masami Togawa, Chisako Fukuda, Yuko Saito, Ichizo Nishino, Yoshihiro Maegaki
A 12-year-old girl presented with talipes equinus of both legs, attenuation of upper and lower limb tendon reflexes, thermal hyperalgesia, and reduction of vibratory sensation. On clinical examination, muscle twitches of fingers of both hands, as well as the abductor halluces and the dorsal interossei muscles of the right foot were observed. Nerve conduction velocity was significantly declined in the upper and lower extremities. Needle electromyography (EMG) was not performed; however, ultrasonography revealed repetitive, semi-regular muscle twitches lasting 0...
March 16, 2017: Brain & Development
https://www.readbyqxmd.com/read/28302332/evaluation-of-auditory-perception-development-in-neonates-by-event-related-potential-technique
#15
Qinfen Zhang, Hongxin Li, Aibin Zheng, Xuan Dong, Wenjuan Tu
OBJECTIVE: To investigate auditory perception development in neonates and correlate it with days after birth, left and right hemisphere development and sex using event-related potential (ERP) technique. METHODS: Sixty full-term neonates, consisting of 32 males and 28 females, aged 2-28days were included in this study. An auditory oddball paradigm was used to elicit ERPs. N2 wave latencies and areas were recorded at different days after birth, to study on relationship between auditory perception and age, and comparison of left and right hemispheres, and males and females...
March 13, 2017: Brain & Development
https://www.readbyqxmd.com/read/28249737/historical-documents-on-epilepsy-from-antiquity-through-the-20th-century
#16
REVIEW
Christos P Panteliadis, Photios Vassilyadi, Julia Fehlert, Christian Hagel
Historical documents dating back almost 4500years have alluded to the condition of epilepsy, describing signs and symptoms that are well-known today. Epilepsy was thought to be a mystical disorder by almost all Ancient cultures, including the Babylonians, Egyptians, Greeks, Indians, Iranians and Chinese. Hippocrates was the first to de-mystify the condition of epilepsy, providing a more scientific approach to the condition. As the signs and symptoms of epilepsy occurred without an obvious cause, the idea stood that it was a mystical phenomenon of divine punishment...
February 26, 2017: Brain & Development
https://www.readbyqxmd.com/read/28249736/alternating-hemiplegia-of-childhood-pharmacological-treatment-of-30-italian-patients
#17
Livia Pisciotta, Marcella Gherzi, Michela Stagnaro, Maria Grazia Calevo, Melania Giannotta, Maria Rosaria Vavassori, Edvige Veneselli, Elisa De Grandis
BACKGROUND: Alternating Hemiplegia of Childhood (AHC) is a severe disorder. Several drugs have been administered as prophylaxis for paroxysmal attacks, however, no therapy is completely effective. METHODS: Our aim is to review the pharmacological data related to the prophylactic and acute treatment of a cohort of 30 patients (16M, 14F, age range 5-42years) and to correlate them with the clinical and genetic data collected through the Italian Biobank and Clinical Registry for AHC...
February 26, 2017: Brain & Development
https://www.readbyqxmd.com/read/28242040/molecular-biomarkers-predictive-of-sertraline-treatment-response-in-young-children-with-fragile-x-syndrome
#18
Reem Rafik AlOlaby, Stefan R Sweha, Marisol Silva, Blythe Durbin-Johnson, Carolyn M Yrigollen, Dalyir Pretto, Randi J Hagerman, Flora Tassone
OBJECTIVES: Several neurotransmitters involved in brain development are altered in fragile X syndrome (FXS), the most common monogenic cause of autism spectrum disorder (ASD). Serotonin plays a vital role in synaptogenesis and postnatal brain development. Deficits in serotonin synthesis and abnormal neurogenesis were shown in young children with autism, suggesting that treating within the first years of life with a selective serotonin reuptake inhibitor might be the most effective time...
February 24, 2017: Brain & Development
https://www.readbyqxmd.com/read/28238458/increased-levels-of-anti-phosphatidylcholine-and-anti-phosphatidylethanolamine-antibodies-in-pediatric-patients-with-cerebral-infarction
#19
Seigo Korematsu, Hiroshi Yamada, Hiroaki Miyahara, Kenji Ihara
Cerebral infarction in children is rare and often occurs secondary to moyamoya disease, hereditary coagulopathies, vasculitis, antiphospholipid antibody syndrome, heart disease, mitochondrial disease. However, in some cases, the causes of cerebral infarction is unknown. In this study, we detected increased levels of serum anti-phosphatidylcholine and anti-phosphatidylethanolamine IgG antibodies in three pediatric patients with cerebral infarction whose primary disorders are unknown by routine examination. For the five disease control patients of cerebral infarction due to other primary disorders, there was no such increase in these antibodies levels...
February 23, 2017: Brain & Development
https://www.readbyqxmd.com/read/28233694/prenatal-and-lactational-bisphenol-a-exposure-does-not-alter-serotonergic-neurons-morphologically-in-the-murine-dorsal-raphe-nucleus
#20
Shoko Goto, Hiroshi Ogi, Shinji Fushiki, Kyoko Itoh
OBJECTIVE: There is concern that bisphenol A (BPA), an endocrine-disrupting chemical, affects brain development when exposed to a fetus and/or infant. We previously reported that increased serotonin (5-HT) and its metabolite (5-HIAA) in the dorsal raphe nucleus (DRN) in murine adult brains when they were prenatally exposed to low doses of BPA. This study investigates the morphological alteration of the dorsal raphe nucleus (DRN) in order to explain the disrupted serotonergic system after prenatal and lactational exposure to bisphenol A (BPA)...
February 21, 2017: Brain & Development
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