keyword
MENU ▼
Read by QxMD icon Read
search

Neurodevelopmental diseases

keyword
https://www.readbyqxmd.com/read/28812263/molecular-basis-of-oxytocin-receptor-signalling-in-the-brain-what-we-know-and-what-we-need-to-know
#1
Marta Busnelli, Bice Chini
Oxytocin (OT), a hypothalamic neuropeptide involved in regulating the social behaviour of all vertebrates, has been proposed as a treatment for a number of neuropsychiatric disorders characterised by deficits in the social domain. Over the last few decades, advances focused on understanding the social effects of OT and its role in physiological conditions and brain diseases, but much less has been done to clarify the molecular cascade of events involved in mediating such effects and in particular the cellular and molecular pharmacology of OT and its target receptor (OTR) in neuronal and glial cells...
August 16, 2017: Current Topics in Behavioral Neurosciences
https://www.readbyqxmd.com/read/28808027/de-novo-mutations-in-inhibitors-of-wnt-bmp-and-ras-erk-signaling-pathways-in-non-syndromic-midline-craniosynostosis
#2
Andrew T Timberlake, Charuta G Furey, Jungmin Choi, Carol Nelson-Williams, Erin Loring, Amy Galm, Kristopher T Kahle, Derek M Steinbacher, Dawid Larysz, John A Persing, Richard P Lifton
Non-syndromic craniosynostosis (NSC) is a frequent congenital malformation in which one or more cranial sutures fuse prematurely. Mutations causing rare syndromic craniosynostoses in humans and engineered mouse models commonly increase signaling of the Wnt, bone morphogenetic protein (BMP), or Ras/ERK pathways, converging on shared nuclear targets that promote bone formation. In contrast, the genetics of NSC is largely unexplored. More than 95% of NSC is sporadic, suggesting a role for de novo mutations. Exome sequencing of 291 parent-offspring trios with midline NSC revealed 15 probands with heterozygous damaging de novo mutations in 12 negative regulators of Wnt, BMP, and Ras/ERK signaling (10...
August 14, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28807762/diagnostic-exome-sequencing-identifies-a-heterozygous-mbd5-frameshift-mutation-in-a-family-with-intellectual-disability-and-epilepsy
#3
Ji Yoon Han, In Goo Lee, Woori Jang, Myungshin Kim, Yonggoo Kim, Ja Hyun Jang, Joonhong Park
Methyl-CpG-binding domain 5 (MBD5)-associated neurodevelopmental disorder caused by 2q23.1 or MBD5-specific mutation has been recently identified as a genetic disorder associated with autism spectrum disorders. Phenotypic features of 2q23.1 deletion or disruption of MBD5 gene include severe intellectual disability, seizure, significant speech impairment, sleep disturbance, and autistic-like behavioural problems. Here we report a 7-year-old girl with intellectual disability and epilepsy without previous clinical diagnosis...
August 11, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28805197/family-of-a-person-suffering-from-schizophrenia-in-the-context-of-a-qualitative-approach-to-understanding-the-family-as-a-system
#4
Andrzej Witusik
Qualitative analysis of the family system including a person suffering from schizophrenia is an underestimated research paradigm in modern psychiatry, clinical psychology and psychotherapy. This method is important both from the cognitive point of view and for evaluation of the effectiveness of therapy. AIM: The aim of the study was a qualitative analysis of the therapeutic process in a family whose member is suffering from schizophrenic psychosis. MATERIALS AND METHODS: The study of the process using qualitative research methodology in the paradigm of systemic thinking pointing to the mutual interactions in the family system inducing relapses in the identified patient, with identification of triangulation processes, transgenerational myths inheritance and coalitions formed by the family members...
July 21, 2017: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/28803920/open-chromatin-profiling-in-hipsc-derived-neurons-prioritizes-functional-noncoding-psychiatric-risk-variants-and-highlights-neurodevelopmental-loci
#5
Marc P Forrest, Hanwen Zhang, Winton Moy, Heather McGowan, Catherine Leites, Leonardo E Dionisio, Zihui Xu, Jianxin Shi, Alan R Sanders, William J Greenleaf, Chad A Cowan, Zhiping P Pang, Pablo V Gejman, Peter Penzes, Jubao Duan
Most disease variants lie within noncoding genomic regions, making their functional interpretation challenging. Because chromatin openness strongly influences transcriptional activity, we hypothesized that cell-type-specific open chromatin regions (OCRs) might highlight disease-relevant noncoding sequences. To investigate, we mapped global OCRs in neurons differentiating from hiPSCs, a cellular model for studying neurodevelopmental disorders such as schizophrenia (SZ). We found that the OCRs are highly dynamic and can stratify GWAS-implicated SZ risk variants...
August 4, 2017: Cell Stem Cell
https://www.readbyqxmd.com/read/28801223/limited-benefits-of-presymptomatic-cord-blood-transplantation-in-neurovisceral-acid-sphingomyelinase-deficiency-asmd-intermediate-type
#6
Oriane Mercati, Samia Pichard, Marie Ouachée, Roseline Froissart, Odile Fenneteau, Bastien Roche, Monique Elmaleh-Bergès, Yves Bertrand, Hélène Ogier de Baulny, Marie T Vanier, Manuel Schiff
Acid sphingomyelinase (ASM) deficient Niemann-Pick disease is a lysosomal storage disorder resulting from mutations in the SMPD1 gene. The clinical spectrum distinguishes a severe infantile neurological form (type A), a non-neurological visceral form (type B) and a rare intermediate neurovisceral form. We report the first case of presymptomatic cord blood transplantation in a child with the intermediate type of ASM deficiency due to a homozygous Tyr369Cys mutation, whose affected elder brother had developed neurodevelopmental delay from 19 months of age, and had died from severe visceral complications at the age of 3...
July 29, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28798684/differential-roles-of-environmental-enrichment-in-alzheimer-s-type-of-neurodegeneration-and-physiological-aging
#7
Vladimir V Salmin, Yulia K Komleva, Natalia V Kuvacheva, Andrey V Morgun, Elena D Khilazheva, Olga L Lopatina, Elena A Pozhilenkova, Konstantin A Shapovalov, Yulia A Uspenskaya, Alla B Salmina
Impairment of hippocampal adult neurogenesis in aging or degenerating brain is a well-known phenomenon caused by the shortage of brain stem cell pool, alterations in the local microenvironment within the neurogenic niches, or deregulation of stem cell development. Environmental enrichment (EE) has been proposed as a potent tool to restore brain functions, to prevent aging-associated neurodegeneration, and to cure neuronal deficits seen in neurodevelopmental and neurodegenerative disorders. Here, we report our data on the effects of environmental enrichment on hippocampal neurogenesis in vivo and neurosphere-forming capacity of hippocampal stem/progenitor cells in vitro...
2017: Frontiers in Aging Neuroscience
https://www.readbyqxmd.com/read/28794150/peripheral-neuropathy-in-complex-inherited-diseases-an-approach-to-diagnosis
#8
REVIEW
Alexander M Rossor, Aisling S Carr, Helen Devine, Hoskote Chandrashekar, Ana Lara Pelayo-Negro, Davide Pareyson, Michael E Shy, Steven S Scherer, Mary M Reilly
Peripheral neuropathy is a common finding in patients with complex inherited neurological diseases and may be subclinical or a major component of the phenotype. This review aims to provide a clinical approach to the diagnosis of this complex group of patients by addressing key questions including the predominant neurological syndrome associated with the neuropathy, for example, spasticity, the type of neuropathy and the other neurological and non-neurological features of the syndrome. Priority is given to the diagnosis of treatable conditions...
August 9, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28792689/predictive-value-of-neurodevelopmental-outcome-and-serum-tau-protein-level-in-neonates-with-hypoxic-ischemic-encephalopathy
#9
Hong-Yan Lv, Su-Jing Wu, Xiu-Ling Gu, Qiu-Li Wang, Peng-Shun Ren, Yan Ma, Li-Ying Peng, Lin-Hong Jin, Lian-Xiang Li
BACKGROUND: Tau protein is s specific protein expressed by neurons in the central nervous system. Elevated serum Tau protein is associated with many diseases of the central nervous system. The serum Tau protein level in neonates with hypoxic ischemic encephalopathy (HIE) is still poorly understood. METHODS: Forty-one human neonates with HIE and thirty-five healthy neonates (control group) within 24 hours after birth were studied. Tau protein in serum was detected by enzyme-linked immunosorbent assay...
July 1, 2017: Clinical Laboratory
https://www.readbyqxmd.com/read/28780688/low-blood-lead-levels-and-attention-deficit-hyperactivity-disorder-in-children-a-systematic-review-and-meta-analysis
#10
Jianjun He, Huacheng Ning, Ruixue Huang
Attention-deficit hyperactivity disorder (ADHD) of children is one of the most common neurodevelopmental diseases; the etiology remains unclear. We reviewed and meta-analyzed case-control studies to assess the effects of blood lead levels in children on ADHD symptoms. Relevant studies were identified by searching electronic databases. A meta-analysis was performed using the fixed model of Review Manager 5.3 software. Seven relevant studies were identified. The case groups exhibited significant increases in ADHD symptoms [mean difference (MD), 0...
August 5, 2017: Environmental Science and Pollution Research International
https://www.readbyqxmd.com/read/28776581/decreased-brain-ph-as-a-shared-endophenotype-of-psychiatric-disorders
#11
Hideo Hagihara, Vibeke S Catts, Yuta Katayama, Hirotaka Shoji, Tsuyoshi Takagi, Freesia L Huang, Akito Nakao, Yasuo Mori, Kuo-Ping Huang, Shunsuke Ishii, Isabella A Graef, Keiichi I Nakayama, Cynthia Shannon Weickert, Tsuyoshi Miyakawa
Although the brains of patients with schizophrenia and bipolar disorder exhibit decreased brain pH relative to those of healthy controls upon postmortem examination, it remains controversial whether this finding reflects a primary feature of the diseases or is a result of confounding factors such as medication and agonal state. To date, systematic investigation of brain pH has not been undertaken using animal models, which can be studied without confounds inherent in human studies. In the present study, we first reevaluated the pH of the postmortem brains of patients with schizophrenia and bipolar disorder by conducting a meta-analysis of existing datasets from ten studies...
August 4, 2017: Neuropsychopharmacology: Official Publication of the American College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/28770435/implication-of-endoplasmic-reticulum-stress-in-autism-spectrum-disorder
#12
Koichi Kawada, Seisuke Mimori
Autism spectrum disorder (ASD) is categorized as a neurodevelopmental disorder according to the Diagnostic and Statistical Manual of Disorders, Fifth Edition and is defined as a congenital impairment of the central nervous system. ASD may be caused by a chromosomal abnormality or gene mutation. However, these etiologies are insufficient to account for the pathogenesis of ASD. Therefore, we propose that the etiology and pathogenesis of ASD are related to the stress of the endoplasmic reticulum (ER). ER stress, induced by valproic acid, increased in ASD mouse model, characterized by an unfolded protein response that is activated by this stress...
August 2, 2017: Neurochemical Research
https://www.readbyqxmd.com/read/28768369/recent-developments-in-understanding-the-role-of-the-gut-microbiota-in-brain-health-and-disease
#13
REVIEW
Eoin Sherwin, Timothy G Dinan, John F Cryan
There is a growing appreciation of the role of the gut microbiota in all aspects of health and disease, including brain health. Indeed, roles for the bacterial commensals in various psychiatric and neurological conditions, such as depression, autism, stroke, Parkinson's disease, and Alzheimer's disease, are emerging. Microbiota dysregulation has been documented in all of these conditions or in animal models thereof. Moreover, depletion or modulation of the gut microbiota can affect the severity of the central pathology or behavioral deficits observed in a variety of brain disorders...
August 2, 2017: Annals of the New York Academy of Sciences
https://www.readbyqxmd.com/read/28767187/phenotype-analysis-of-congenital-and-neurodevelopmental-disorders-in-the-next-generation-sequencing-era
#14
John C Carey
The designation, phenotype, was proposed as a term by Wilhelm Johannsen in 1909. The word is derived from the Greek, phano (showing) and typo (type), phanotypos. Phenotype has become a widely recognized term, even outside of the genetics community, in recent years with the ongoing identification of human disease genes. The term has been defined as the observable constitution of an organism, but sometimes refers to a condition when a person has a particular clinical presentation. Analysis of phenotype is a timely theme because advances in the understanding of the genetic basis of human disease and the emergence of next generation sequencing have spurred a renewed interest in phenotype and the proposal to establish a "Human Phenome Project...
August 2, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28765789/deep-sequencing-reveals-variations-in-somatic-cell-mosaic-mutations-between-monozygotic-twins-with-discordant-psychiatric-disease
#15
Yoshiro Morimoto, Shinji Ono, Akira Imamura, Yuji Okazaki, Akira Kinoshita, Hiroyuki Mishima, Hideyuki Nakane, Hiroki Ozawa, Koh-Ichiro Yoshiura, Naohiro Kurotaki
Monozygotic (MZ) twins have been thought to be genetically identical. However, recent studies have shown discordant variants between them. We performed whole-exome sequencing (WES) in five MZ twin pairs with discordant neurodevelopmental disorders and one healthy control MZ twin to detect discordant variants. We identified three discordant variants confirmed by deep sequencing after analysis by personalized next-generation sequencing (NGS). Three mutations in FBXO38 (chr5:147774428;T>G), SMOC2 (chr6:169051385;A>G) and TDRP (chr8:442616;A>G), were detected with low allele frequency of mutant alleles on deep sequencing, suggesting that these loci are mosaic due to somatic mutations in a developmental stage...
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28763424/congenital-cytomegalovirus-infection-after-a-multiple-birth-pregnancy
#16
Einat Shmueli, Eran Hadar, Joseph Pardo, Joseph Attias, Jacob Amir, Efraim Bilavsky
BACKGROUND: Congenital cytomegalovirus (cCMV) infection is an important cause of hearing loss and neurodevelopment delay. While data on vertical transmission and neonatal outcome after singleton pregnancy with cCMV is well established, only scarce reports have addressed cCMV in multiple birth pregnancies. Furthermore, no studies have yet compared the outcome after birth and long-term follow up of children with cCMV born after a singleton vs. multiple pregnancy. METHODS: Infant outcome after birth of symptomatic vs...
July 31, 2017: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/28763098/cross-species-comparison-of-behavioral-neurodevelopmental-milestones-in-the-common-marmoset-monkey-and-human-child
#17
Karla K Ausderau, Caitlin Dammann, Kathy McManus, Mary Schneider, Marina E Emborg, Nancy Schultz-Darken
The common marmoset (Callithrix jacchus) is an increasingly popular non-human primate species for developing transgenic and genomic edited models of neurological disorders. These models present an opportunity to assess from birth the impact of genetic mutations and to identify candidate predictive biomarkers of early disease onset. In order to apply findings from marmosets to humans, a cross-species comparison of typical development is essential. Aiming to identify similarities, differences, and gaps in knowledge of neurodevelopment, we evaluated peer-reviewed literature focused on the first 6 months of life of marmosets and compared to humans...
August 1, 2017: Developmental Psychobiology
https://www.readbyqxmd.com/read/28763063/aripiprazole-and-riluzole-treatment-alters-behavior-and-neurometabolites-in-young-adhd-rats-a-longitudinal-1-h-nmr-spectroscopy-study-at-11-7t
#18
F Rizzo, A Abaei, E Nespoli, J M Fegert, B Hengerer, V Rasche, T M Boeckers
Attention deficit hyperactivity disorder (ADHD), Tourette syndrome (TS) as well as obsessive compulsive disorder (OCD) are co-occurring neurodevelopmental diseases that share alterations of frontocortical neurometabolites. In this longitudinal study we investigated the behavioral and neurochemical effects of aripiprazole and riluzole treatment in juvenile spontaneously hypertensive rats (SHR), a model for ADHD. For neurochemical analysis we employed in vivo magnetic resonance spectroscopy (MRS). Spectra from voxels located at the central striatum and prefrontal cortex were acquired postnatally from day 35 to 50...
August 1, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28761206/comparative-dermatoglyphic-study-between-autistic-patients-and-normal-people-in-iran
#19
Mansoureh Kazemi, Mohammad Reza Fayyazi-Bordbar, Nasser Mahdavi-Shahri
Autism is a neurodevelopmental disorder originating from early childhood; nevertheless, its diagnosis is in older ages. In addition to heredity, environmental factors are also of great significance in the etiology of the disease. Dermatoglyphic patterns, albeit varied, remain stable for a lifetime and yield a large number of patterns upon examination. Studies have shown a significant association between dermatoglyphics and some diseases, especially genetic ones. We compared fingerprints between patients with autism and normal individuals in a Fars population living in Khorasan-Razavi Province, Iran, in 2015...
July 2017: Iranian Journal of Medical Sciences
https://www.readbyqxmd.com/read/28761078/the-complement-system-a-gateway-to-gene-environment-interactions-in-schizophrenia-pathogenesis
#20
V L Nimgaonkar, K M Prasad, K V Chowdari, E G Severance, R H Yolken
The pathogenesis of schizophrenia is considered to be multi-factorial, with likely gene-environment interactions (GEI). Genetic and environmental risk factors are being identified with increasing frequency, yet their very number vastly increases the scope of possible GEI, making it difficult to identify them with certainty. Accumulating evidence suggests a dysregulated complement pathway among the pathogenic processes of schizophrenia. The complement pathway mediates innate and acquired immunity, and its activation drives the removal of damaged cells, autoantigens and environmentally derived antigens...
August 1, 2017: Molecular Psychiatry
keyword
keyword
93745
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"