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Brain & Development

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https://www.readbyqxmd.com/read/30217666/behavioral-profiles-in-rett-syndrome-data-from-the-natural-history-study
#1
Caroline B Buchanan, Jennifer L Stallworth, Alexandra E Scott, Daniel G Glaze, Jane B Lane, Steven A Skinner, Aubin E Tierney, Alan K Percy, Jeffrey L Neul, Walter E Kaufmann
INTRODUCTION: Rett syndrome (RTT) is a complex neurodevelopmental disorder with known behavioral abnormalities, both internalizing (e.g., anxiety, social withdrawal) and externalizing (e.g., aggression, self-abuse). However, a broad evaluation of behavioral abnormalities in a large cohort is lacking. OBJECTIVE: In this report, we describe profiles of internalizing and externalizing behaviors in individuals evaluated in the multi-center U.S. Rett Natural History Study...
September 11, 2018: Brain & Development
https://www.readbyqxmd.com/read/30213442/aggregate-formation-analysis-of-gfap-r416w-found-in-one-case-of-alexander-disease
#2
Janyerkye Tulyeu, Moe Tamaura, Eriko Jimbo, Hiroko Shimbo, Kyoko Takano, Mizue Iai, Sumimasa Yamashita, Tomohide Goto, Noriko Aida, Etsuro Tokuhiro, Takanori Yamagata, Hitoshi Osaka
Alexander disease (AxD) is a neurodegenerative disease in astrocytes caused by a mutation in the gene encoding glial fibrillary acidic protein, GFAP. We herein present the case of a 12-year-old girl who showed intermittent exotropia at 3 years of age and central precocious puberty at 7 years of age. The periventricular and medulla oblongata showed high signal intensity on T2-weighted magnetic resonance imaging. The patient was diagnosed with AxD after direct sequencing revealing a de novo recurrent mutation, c...
September 10, 2018: Brain & Development
https://www.readbyqxmd.com/read/30213441/severe-neurologic-and-hepatic-toxicity-in-a-newborn-prenatally-exposed-to-methamphetamine-a-case-report
#3
Eugenia Maranella, Arianna Mareri, Valentina Nardi, Cecilia Di Natale, Luisa Di Luca, Emanuela Conte, Veronica Pannone, Alessia Catalucci, Sandra Di Fabio
OBJECTIVE: In the recent years the increase of methamphetamines (MTA) abusers women has become an emerging problem. Very little data has been published regarding the effects of prenatal MTA exposure. We describe a case of MTA related toxicity in a term newborn which have early onset of neonatal encephalopathy and liver failure. CASE REPORT: A term infant born to a MTA abuser mother developed seizures and severe neurological symptoms shortly after birth. Methamphetamine was detected both in maternal and in neonatal urine...
September 10, 2018: Brain & Development
https://www.readbyqxmd.com/read/30205923/factors-associated-with-electroencephalographic-and-clinical-remission-of-benign-childhood-epilepsy-with-centrotemporal-spikes
#4
Eun Hye Lee, Su-Jeong You
PURPOSE: Benign childhood epilepsy with centrotemporal spikes (BECTS) is strongly related to age, both to age at the time of seizure onset and to age at remission. However, the age of remission varies. The present study analyzed factors associated with remission of BECTS. METHODS: Sixty-nine children with BECTS were retrospectively analyzed. Thirty-eight (55.1%) were boys and 31 (44.9%) were girls. Mean age at seizure onset was 86.36 ± 24.55 months (range: 41-151 months)...
September 8, 2018: Brain & Development
https://www.readbyqxmd.com/read/30195441/multi-affected-pedigree-with-congenital-microcephaly-wes-revealed-pnkp-gene-mutation
#5
Mona Entezam, Masoumeh Razipour, Saeed Talebi, Mehran Beiraghi Toosi, Mohammad Keramatipour
Microcephaly is a rare neurological disorder, occurs in both isolated and syndromic forms. This classification could be confusing in rare disorders with variable phenotypic characteristics. However, identification of the causative gene through genetic study would allow determining the definite diagnosis. Here we reported a novel missense variant c.1133A>C (p.Lys378Thr) on the 13th exon of PNKP gene identified by whole exome sequencing (WES) in an Iranian multi-affected family with microcephaly, seizures and developmental delay (MCSZ) disorder...
September 5, 2018: Brain & Development
https://www.readbyqxmd.com/read/30177297/effects-of-human-umbilical-cord-blood-cd34-cell-transplantation-in-neonatal-hypoxic-ischemia-rat-model
#6
Yan Yu, YiZhong Yan, Zhen Luo, Pan Luo, Na Xiao, Xuan Sun, LaMei Cheng
Perinatal brain injury can cause death in the neonatal period and lifelong neurodevelopmental deficits. Stem cell transplantation had been proved to be effective approach to ameliorate neurological deficits after brain damage. In this study we examine the effect of human umbilical cord blood CD34+ cells on model of neonatal rat hypoxic-ischemic brain damage and compared the neuroprotection of transplantation of CD34+ cells to mononuclear cells from which CD34+ cells isolated on neonatal hypoxic-ischemia rat model...
August 31, 2018: Brain & Development
https://www.readbyqxmd.com/read/30177296/x-linked-charcot-marie-tooth-disease-type-5-with-recurrent-weakness-after-febrile-illness
#7
Noriko Nishikura, Takanori Yamagata, Takao Morimune, Jun Matsui, Tatsuyuki Sokoda, Chihiro Sawai, Yuko Sakaue, Yujiro Higuchi, Akihiro Hashiguchi, Hiroshi Takashima, Yoshihiro Takeuchi, Yoshihiro Maruo
X-linked Charcot-Marie-Tooth disease type 5 (CMTX5) is an X-linked disorder characterized by early-onset sensorineural hearing impairment, peripheral neuropathy, and progressive optic atrophy. It is caused by a loss-of-function mutation in the phosphoribosyl pyrophosphate synthetase 1 gene (PRPS1), which encodes isoform I of phosphoribosyl pyrophosphate synthetase (PRS-I). A decreased activity leads to nonsyndromic sensorineural deafness (DFN2), CMTX5, and Arts syndrome depending upon residual PRS-I activity...
August 31, 2018: Brain & Development
https://www.readbyqxmd.com/read/30170935/an-unusual-manifestation-of-sj%C3%A3-gren-syndrome-encephalitis
#8
Kenji Iwai, Kiyoko Amo, Ichiro Kuki, Masataka Fukuoka, Kiyohiro Kim, Chiharu Yamairi, Masao Togawa
Sjögren syndrome (SS) is a systemic inflammatory and autoimmune disease characterized by systemic disorders of the exocrine glands, predominantly the salivary and lacrimal glands. Here, we report a 4-year-old boy who presented with the repetition of generalized tonic-clonic seizures for 1-2 min. Initially, he was diagnosed with idiopathic autoimmune encephalitis and was treated with steroids. He was eventually diagnosed with SS based on the examination results, such as inflammatory cell infiltration into the minor salivary glands and positive serum anti-SSA/Ro antibody...
August 28, 2018: Brain & Development
https://www.readbyqxmd.com/read/30144971/atp13a2-related-juvenile-onset-parkinson-disease
#9
LETTER
Jehan Suleiman, Ayman W El-Hattab
No abstract text is available yet for this article.
August 22, 2018: Brain & Development
https://www.readbyqxmd.com/read/30144970/a-novel-ddc-gene-deletion-mutation-in-two-chinese-mainland-siblings-with-aromatic-l-amino-acid-decarboxylase-deficiency
#10
Lifang Dai, Changhong Ding, Fang Fang
BACKGROUND: Aromatic l-amino acid decarboxylase (AADC) deficiency (OMIM #608643) is a rare and severe disorder of biogenic amine synthesis caused by mutations in the DDC gene. The phenomenology of the movement disorder includes intermittent oculogyric crises and limb dystonia, generalized athetosis, and impaired voluntary movement. OBJECTIVE: To identify clinical manifestations and DDC gene mutations in two Chinese mainland children who are siblings with AADC deficiency...
August 22, 2018: Brain & Development
https://www.readbyqxmd.com/read/30111487/mitochondrial-dysfunction-in-atp13a2-carriers
#11
LETTER
Josef Finsterer, Fulvio A Scorza, Ana C Fiorini, Carla A Scorza, Antonio Carlos de Almeida
No abstract text is available yet for this article.
August 12, 2018: Brain & Development
https://www.readbyqxmd.com/read/30104084/a-case-of-subacute-combined-degeneration-of-the-spinal-cord-due-to-folic-acid-and-copper-deficiency
#12
Takuji Nakamura, Masanori Nishi, Mihoko Rikitake, Daisuke Koga, Junya Eto, Daisuke Tajima, Shuji Toda, Muneaki Matsuo
Subacute combined degeneration of the spinal cord (SACD) is a rare neurologic disorder manifesting progressive symptoms of paresthesia and spastic paralysis. Herein we present an autopsy case of SACD caused by folic acid and copper deficiency. A 16-year-old male presented with gradually worsening unsteady gait, and bladder and rectal dysfunction. He had a medical history of T-cell acute lymphoblastic leukemia (T-ALL), diagnosed 1.5 years previously. The patient had undergone chemotherapy, including methotrexate, as well as allogeneic bone mallow transplantation...
August 10, 2018: Brain & Development
https://www.readbyqxmd.com/read/30100227/identification-of-a-novel-pafah1b1-missense-mutation-as-a-cause-of-mild-lissencephaly-with-basal-ganglia-calcification
#13
Chang-He Shi, Shuo Zhang, Zhi-Hua Yang, Yu-Sheng Li, Yu-Tao Liu, Zhuo Li, Zheng-Wei Hu, Yu-Ming Xu
PURPOSE: To investigate the genetic and clinical features of a Chinese family exhibiting an autosomal dominant inheritance pattern of lissencephaly. METHODS: Clinical examinations and cranial imaging studies were performed for all members of the family (two unaffected members and three surviving members from a total of four affected members). In addition, whole-exome sequencing analysis was performed for DNA from an affected patient to scan for candidate mutations, followed by Sanger sequencing to verify these candidate mutations in the entire family...
August 9, 2018: Brain & Development
https://www.readbyqxmd.com/read/30098844/avoid-valproate-in-patients-with-iars2-mutation
#14
LETTER
Josef Finsterer, Sinda Zarrouk-Mahjoub
No abstract text is available yet for this article.
August 9, 2018: Brain & Development
https://www.readbyqxmd.com/read/30093179/incidence-of-infantile-spinal-muscular-atrophy-on-shikoku-island-of-japan
#15
Kentaro Okamoto, Mitsumasa Fukuda, Isao Saito, Risako Urate, Satoshi Maniwa, Daisuke Usui, Takahiro Motoki, Toshihiro Jogamoto, Kaori Aibara, Takatoshi Hosokawa, Yukihiko Konishi, Reiko Arakawa, Kenji Mori, Eiichi Ishii, Kayoko Saito, Hisahide Nishio
BACKGROUND: Spinal muscular atrophy (SMA) is an autosomal recessive disorder caused by homozygous mutations in the SMN1 gene. SMA has long been known to be the most common genetic cause of infant mortality. However, there have been no reports on the epidemiology of infantile SMA (types 1 and 2) based on genetic testing in Japan. In this study, we estimated the incidence of infantile SMA on Shikoku Island, which is a main island of Japan and consists of four prefectures: Ehime, Kagawa, Tokushima and Kochi...
August 6, 2018: Brain & Development
https://www.readbyqxmd.com/read/30086988/elimination-of-amyloid-precursor-protein-in-senile-plaques-in-the-brain-of-a-patient-with-alzheimer-type-dementia-and-down-syndrome
#16
Yasuhiro Arai, Yuji Iwasaki, Toshihiro Suzuki, Shuuhei Ide, Makiko Kaga
The average lifespan of individuals with Down syndrome has approximately doubled over the past three decades to 55-60 years. To reveal the pathogenic process of Alzheimer-type dementia in individuals with Down syndrome, we immunohistochemically examined senile plaque formation in the cerebral cortex in the autopsy brain and compared findings with our previous studies. We described a 52-year-old female with Down syndrome who developed progressively more frequent myoclonus following cognitive decline and died at the age of 59 years...
August 4, 2018: Brain & Development
https://www.readbyqxmd.com/read/30078639/atypical-pex16-peroxisome-biogenesis-disorder-with-mild-biochemical-disruptions-and-long-survival
#17
Nuha Al Zaabi, Anoud Kendi, Fatma Al-Jasmi, Shigeo Takashima, Nobuyuki Shimozawa, Osama Y Al-Dirbashi
BACKGROUND: Mutations in PEX16 cause peroxisome biogenesis disorder (PBD). Zellweger syndrome characterized by neurological dysfunction, dysmorphic features, liver disease and early death represents the severe end of this clinical spectrum. Here we discuss the diagnostic challenge of atypical PEX16 related PBD in 3 patients from highly inbred kindred and describe the role of specific metabolites analyses, fibroblasts studies, whole-exome sequencing (WES) and metabolomics profiling to establish the diagnosis...
August 2, 2018: Brain & Development
https://www.readbyqxmd.com/read/30077509/characteristics-of-japanese-patients-with-x-linked-adrenoleukodystrophy-and-concerns-of-their-families-from-the-1st-registry-system
#18
Ken Sakurai, Toya Ohashi, Nobuyuki Shimozawa, Joo-Hyun Seo, Torayuki Okuyama, Hiroyuki Ida
OBJECTIVE: Early diagnosis is critical in achieving the best outcome following hematopoietic stem cell transplantation (HSCT) for X-linked adrenoleukodystrophy (X-ALD). We used a questionnaire to gather detailed clinical information and information regarding the anxieties of patients' families using the registry system for X-ALD. METHODS: We and the patients' families established the registry system for X-ALD in Japan. We created a questionnaire and distributed it to the patients' families...
August 1, 2018: Brain & Development
https://www.readbyqxmd.com/read/30077508/dense-array-eeg-estimated-the-epileptic-focus-in-a-patient-with-epilepsy-secondary-to-tuberous-sclerosis-complex
#19
Yuki Amano, Ayataka Fujimoto, Tohru Okanishi, Mitsuyo Nishimura, Hideo Enoki
PURPOSE: Tuberous sclerosis complex (TSC) is a leading cause of epilepsy, with seizures affecting almost 80-90% of children. We used the concordance between magnetic resonance imaging (MRI) and dense array electroencephalography (dEEG) findings to detect epileptic focus in a patient with TSC. METHODS: A 9-year-old boy with TSC exhibited daily choking spells. As we could not detect the seizure onset area with conventional scalp electroencephalogram (EEG) and long-term video monitoring, we performed dEEG and captured his regular seizures...
August 1, 2018: Brain & Development
https://www.readbyqxmd.com/read/30077507/renal-dysfunction-is-rare-in-fukuyama-congenital-muscular-dystrophy
#20
Keiko Ishigaki, Ikuko Kato, Terumi Murakami, Takatoshi Sato, Minobu Shichiji, Kumiko Ishiguro, Kiyonobu Ishizuka, Makoto Funatsuka, Kayoko Saito, Makiko Osawa, Satoru Nagata
BACKGROUND: The leading cause of death in patients with Fukuyama congenital muscular dystrophy (FCMD) is congestive heart failure or respiratory dysfunction, which is same as that in Duchenne muscular dystrophy (DMD). Recent studies reported that renal dysfunction is a common complication and an increasing cause of death in advanced DMD. It can be attributable to circulatory instability or inappropriate use of drugs for treating cardiac dysfunction. METHODS: We retrospectively evaluated renal function in 38 genetically diagnosed patients with FCMD (range, 1...
August 1, 2018: Brain & Development
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