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https://www.readbyqxmd.com/read/27906524/the-development-of-autism-spectrum-disorders-variability-and-causal-complexity
#1
REVIEW
Robert H Wozniak, Nina B Leezenbaum, Jessie B Northrup, Kelsey L West, Jana M Iverson
The autism spectrum is highly variable, both behaviorally and neurodevelopmentally. Broadly speaking, four related factors contribute to this variability: (1) genetic processes, (2) environmental events, (3) gene × environment interactions, and (4) developmental factors. Given the complexity of the relevant processes, it appears unlikely that autism spectrum atypicalities can be attributed to any one causal mechanism. Rather, the development of neural atypicality reflects an interaction of genetic and environmental risk factors...
December 1, 2016: Wiley Interdisciplinary Reviews. Cognitive Science
https://www.readbyqxmd.com/read/27906019/patterns-of-motor-activity-in-spontaneously-hypertensive-rats-compared-to-wistar-kyoto-rats
#2
Ole Bernt Fasmer, Espen Borgå Johansen
BACKGROUND: Increased motor activity is a defining characteristic of patients with ADHD, and spontaneously hypertensive rats have been suggested to be an animal model of this disorder. In the present study, we wanted to use linear and non-linear methods to explore differences in motor activity patterns in SHR/NCrl rats compared to Wistar Kyoto (WKY/NHsd) rats. METHODS: A total number of 42 rats (23 SHR/NCrl and 19 WKY/NHsd, male and female) were tested. At PND 51, the animals' movements were video-recorded during an operant test procedure that lasted 90 min...
December 1, 2016: Behavioral and Brain Functions: BBF
https://www.readbyqxmd.com/read/27905971/trends-causes-and-risk-factors-of-mortality-among-children-under-5-in-ethiopia-1990-2013-findings-from-the-global-burden-of-disease-study-2013
#3
Amare Deribew, Gizachew Assefa Tessema, Kebede Deribe, Yohannes Adama Melaku, Yihunie Lakew, Azmeraw T Amare, Semaw F Abera, Mesoud Mohammed, Abiy Hiruye, Efrem Teklay, Awoke Misganaw, Nicholas Kassebaum
BACKGROUND: Ethiopia has made remarkable progress in reducing child mortality over the last two decades. However, the under-5 mortality rate in Ethiopia is still higher than the under-5 mortality rates of several low- and middle-income countries (LMIC). On the other hand, the patterns and causes of child mortality have not been well investigated in Ethiopia. The objective of this study was to investigate the mortality trend, causes of death, and risk factors among children under 5 in Ethiopia during 1990-2013...
November 14, 2016: Population Health Metrics
https://www.readbyqxmd.com/read/27905548/neurexin-regulates-nighttime-sleep-by-modulating-synaptic-transmission
#4
Huawei Tong, Qian Li, Zi Chao Zhang, Yi Li, Junhai Han
Neurexins are cell adhesion molecules involved in synaptic formation and synaptic transmission. Mutations in neurexin genes are linked to autism spectrum disorders (ASDs), which are frequently associated with sleep problems. However, the role of neurexin-mediated synaptic transmission in sleep regulation is unclear. Here, we show that lack of the Drosophila α-neurexin homolog significantly reduces the quantity and quality of nighttime sleep and impairs sleep homeostasis. We report that neurexin expression in Drosophila mushroom body (MB) αβ neurons is essential for nighttime sleep...
December 1, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27905541/serbian-language-version-of-the-modified-checklist-for-autism-in-toddlers-revised-with-follow-up-cross-cultural-adaptation-and-assessment-of-reliability
#5
Mia Carakovac, Jelena Jovanovic, Marko Kalanj, Nenad Rudic, Olivera Aleksic-Hil, Branko Aleksic, Itzel Bustos Villalobos, Hideki Kasuya, Norio Ozaki, Dusica Lecic-Tosevski, Milica Pejovic-Milovancevic
Early detection of Autism Spectrum Disorder (ASD) has proven to be of high significance, however there is a limited availability of ASD screening tools in Serbian language. In this study we aim to translate, assess reliability and, in part, test the applicability of Modified Checklist for Autism in Toddlers, Revised, with Follow-Up (M-CHAT R/F) in Serbian Healthcare environment. We screened 128 children in three primary healthcare centres and 20 children in a tertiary psychiatric center, using M-CHAT R/F translated into Serbian language, between December 2014 and October 2015...
December 1, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27905363/-sleep-disorders-in-the-early-stage-of-parkinson-s-disease-in-untreated-patients
#6
N A Amosova, I G Smolentseva, P M Guseinova, O A Maslyuk, E L Gavrilov
Disorders of sleep and wakefulness occur in about 60-98% of patients with Parkinson's disease (PD). The majority of research on the scale and nature of the disorders was performed in patients treated with antiparkinsonian drugs, and, therefore, the true picture of sleep disorders was interfering with side effects of therapy. The spectrum of these disorders in PD patients is broad and includes insomnia, parasomnia and hypersomnia. The main symptoms of insomnia are difficulty in maintaining sleep, associated with nocturia, rapid eye movement (REM) sleep behavior disorder (RBD), night cramps, akinesia and tremor...
2016: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/27905344/concurrent-retinitis-pigmentosa-and-pigmented-paravenous-retinochoroidal-atrophy-phenotypes-in-the-same-patient
#7
Dhanashree Ratra, Dhileesh P Chandrasekharan, P Aruldas, Vineet Ratra
We report a unique case of a patient with retinitis pigmentosa (RP) phenotype in one eye and pigmented paravenous retinochoroidal atrophy (PPRCA) phenotype in the other eye. We describe in detail the symptoms, clinical findings, and investigations done for a 32-year-old Indian woman. This patient had phenotypical picture resembling typical RP in the right eye, with characteristic symptoms of night blindness and constricted field of vision and a nonrecordable electroretinogram (ERG). The left eye of the same patient revealed typical PPRCA phenotype, with no night blindness, normal field, and normal ERG...
October 2016: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/27905098/are-neutrophilic-dermatoses-autoinflammatory-disorders
#8
REVIEW
T K Satoh, M Mellett, E Contassot, L E French
Neutrophils constitute essential players in inflammatory responses and are the first line of defence against harmful stimuli. However, dysregulation of neutrophil homeostasis can result in excessive inflammation and subsequent tissue damage. Neutrophilic dermatoses are a spectrum of inflammatory disorders characterized by skin lesions resulting from a neutrophil-rich inflammatory infiltrate in the absence of infection. The exact molecular pathophysiology of neutrophilic dermatoses has long been poorly understood...
November 30, 2016: British Journal of Dermatology
https://www.readbyqxmd.com/read/27904991/eat-up%C3%A2-family-centered-feeding-intervention-to-promote-food-acceptance-and-decrease-challenging-behaviors-a-single-case-experimental-design-replicated-across-three-families-of-children-with-autism-spectrum-disorder
#9
Joanna Cosbey, Deirdre Muldoon
This study evaluated the effectiveness of a family-centered feeding intervention, Easing Anxiety Together with Understanding and Perseverance (EAT-UP™), for promoting food acceptance of children with autism spectrum disorder at home. A concurrent multiple-baseline design was used with systematic replication across three families. Baseline was followed by an 'Intervention-Coaching' phase and then an 'Intervention-Independent' phase. Using direct observation and pre- and post-intervention questionnaires, data on acceptance of less preferred foods and challenging mealtime behaviors were collected...
November 30, 2016: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/27904735/urinary-metabolomics-of-young-italian-autistic-children-supports-abnormal-tryptophan-and-purine-metabolism
#10
Federica Gevi, Lello Zolla, Stefano Gabriele, Antonio M Persico
BACKGROUND: Autism spectrum disorder (ASD) is still diagnosed through behavioral observation, due to a lack of laboratory biomarkers, which could greatly aid clinicians in providing earlier and more reliable diagnoses. Metabolomics on human biofluids provides a sensitive tool to identify metabolite profiles potentially usable as biomarkers for ASD. Initial metabolomic studies, analyzing urines and plasma of ASD and control individuals, suggested that autistic patients may share some metabolic abnormalities, despite several inconsistencies stemming from differences in technology, ethnicity, age range, and definition of "control" status...
2016: Molecular Autism
https://www.readbyqxmd.com/read/27904495/higher-frequency-of-brain-abnormalities-in-neuromyelitis-optica-spectrum-disorder-patients-without-primary-sj%C3%A3-gren-s-syndrome
#11
Li-Na Gu, Min Zhang, Hui Zhu, Jing-Yao Liu
Neuromyelitis optica spectrum disorder often co-exists with primary Sjögren's syndrome. We compared the clinical features of 16 neuromyelitis optica spectrum disorder patients with (n = 6) or without primary Sjögren's syndrome (n = 10). All patients underwent extensive clinical, laboratory, and MRI evaluations. There were no statistical differences in demographics or first neurological involvement at onset between neuromyelitis optica spectrum disorder patients with and without primary Sjögren's syndrome...
October 2016: Neural Regeneration Research
https://www.readbyqxmd.com/read/27904002/diffuse-mesangial-sclerosis-in-a-child-with-dyskeratosis-congenita-leading-to-end-stage-renal-disease
#12
Abidi Kamel, Taha Sayari, Manel Jellouli, Yousra Hammi, Rim Ghoucha Louzir, Tahar Gargah
Dyskeratosis congenita (DC) is a very rare inherited disorder. It is caused by dysfunction of telomere maintenance. It involves RNA telomerase components relevant to various mutations leading to a classic triad of physical findings consisting of nail dystrophy of the hands and feet, mucosal leukoplakia, and reticular pigmentation of the skin, most commonly on the head, neck, and trunk. Bone marrow failure along with pulmonary complications and malignancies are all common causes of premature death in patients with DC as well as other abnormalities...
November 2016: Iranian Journal of Kidney Diseases
https://www.readbyqxmd.com/read/27903723/cerebellar-shank2-regulates-excitatory-synapse-density-motor-coordination-and-specific-repetitive-and-anxiety-like-behaviors
#13
Seungmin Ha, Dongwon Lee, Yi Sul Cho, Changuk Chung, Ye-Eun Yoo, Jihye Kim, Jiseok Lee, Woohyun Kim, Hyosang Kim, Yong Chul Bae, Keiko Tanaka-Yamamoto, Eunjoon Kim
: Shank2 is a multidomain scaffolding protein implicated in the structural and functional coordination of multiprotein complexes at excitatory postsynaptic sites as well as in psychiatric disorders, including autism spectrum disorders. While Shank2 is strongly expressed in the cerebellum, whether Shank2 regulates cerebellar excitatory synapses, or contributes to the behavioral abnormalities observed in Shank2(-/-) mice, remains unexplored. Here we show that Shank2(-/-) mice show reduced excitatory synapse density in cerebellar Purkinje cells in association with reduced levels of excitatory postsynaptic proteins, including GluD2 and PSD-93, and impaired motor coordination in the Erasmus test...
November 30, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/27903000/fournier-s-gangrene-of-the-penis-in-a-12-year-old-patient-secondary-to-phimosis
#14
Luther Ward, Daniel Eisenson, Jean-Louis Fils
We report a case of Fournier's gangrene in a 12-year-old boy from St. Boniface Hospital in Fond-des-Blancs, Haiti. Fournier's gangrene, a fulminant necrotizing fasciitis of the penis and scrotum, is a rare and life-threatening infection that requires hospitalization, broad-spectrum antibiotics, and surgical debridement.1-3 It is usually associated with impaired cellular immunity due to systemic disorders such as diabetes and liver disease.4,5 This patient had none of those risk factors, but had severe, longstanding phimosis, for which circumcision had been recommended many years before...
December 1, 2016: Rhode Island Medical Journal
https://www.readbyqxmd.com/read/27900342/cacna1c-protecting-young-hippocampal-neurons-in-the-adult-brain
#15
Héctor De Jesús-Cortés, Anjali M Rajadhyaksha, Andrew A Pieper
Neuropsychiatric disease is the leading cause of disability in the United States, and fourth worldwide.(1,2) Not surprisingly, human genetic studies have revealed a common genetic predisposition for many forms of neuropsychiatric disease, potentially explaining why overlapping symptoms are commonly observed across multiple diagnostic categories. For example, the CACNA1C gene was recently identified in the largest human genome-wide association study to date as a risk loci held in common across 5 major forms of neuropsychiatric disease: bipolar disorder, schizophrenia, major depressive disorder (MDD), autism spectrum disorder and attention deficit-hyperactivity disorder...
2016: Neurogenesis (Austin, Tex.)
https://www.readbyqxmd.com/read/27900062/pyoderma-gangrenosum-with-spleen-involvement-review-of-the-literature-and-case-report
#16
Rodica Cosgarea, Simona Corina Senilă, Radu Badea, Loredana Ungureanu
BACKGROUND: Pyoderma gangrenosum is a rare, ulcerative, destructive, non-infectious dermatologic disease and it is one clinical entity within the spectrum of neutrophilic dermatoses. Visceral involvement, manifesting as sterile neutrophilic infiltrates in sites other than skin and, is infrequent. Splenic involvement is very rare. MAIN OBSERVATIONS: We present a case of a 58-year-old woman with pyoderma gangrenosum with spleen involvement and review all reports of similar cases...
November 13, 2016: Journal of Dermatological Case Reports
https://www.readbyqxmd.com/read/27899901/association-of-aryl-hydrocarbon-receptor-related-gene-variants-with-the-severity-of-autism-spectrum-disorders
#17
Takashi X Fujisawa, Shota Nishitani, Ryoichiro Iwanaga, Junko Matsuzaki, Chisato Kawasaki, Mamoru Tochigi, Tsukasa Sasaki, Nobumasa Kato, Kazuyuki Shinohara
Exposure to environmental chemicals, such as dioxin, is known to have adverse effects on the homeostasis of gonadal steroids, thereby potentially altering the sexual differentiation of the brain to express autistic traits. Dioxin-like chemicals act on the aryl hydrocarbon receptor (AhR), polymorphisms, and mutations of AhR-related gene may exert pathological influences on sexual differentiation of the brain, causing autistic traits. To ascertain the relationship between AhR-related gene polymorphisms and autism susceptibility, we identified genotypes of them in patients and controls and determined whether there are different gene and genotype distributions between both groups...
2016: Frontiers in Psychiatry
https://www.readbyqxmd.com/read/27899716/behavioral-and-emotional-problems-in-high-functioning-girls-and-boys-with-autism-spectrum-disorders-parents-reports-and-adolescents-self-reports
#18
Ewa Pisula, Monika Pudło, Monika Słowińska, Rafał Kawa, Magdalena Strząska, Anna Banasiak, Tomasz Wolańczyk
The purpose of this study was to investigate sex differences in behavioral and emotional problems in high-functioning girls and boys with autism spectrum disorder. The results obtained by adolescents with autism spectrum disorder were compared with those of typically developing girls and boys. Correlations between parents' and adolescents' ratings were also analyzed. Participants were 35 girls and 35 boys with autism spectrum disorder, aged 11-18 years, matched for chronological age and full-scale IQ. The control group consisted of 24 typically developing girls and 24 boys of the same age and IQ...
November 29, 2016: Autism: the International Journal of Research and Practice
https://www.readbyqxmd.com/read/27899714/parental-sleep-quality-and-behavior-problems-of-children-with-autism
#19
Iulia Mihaila, Sigan L Hartley
This study explored the impact of parental sleep quality on the experience of behavior problems by children with autism spectrum disorder. A 14-day daily diary was used in a sample of 176 mother-father couples. Dyadic multilevel models were conducted to examine the between-person and within-person effects of previous-night sleep quality on parents' rating of level of behavior problems by the child with autism spectrum disorder and level of positive and negative affect. Results indicated that persistently poor sleep quality was associated with between-person differences in initial rating of level of behavior problems by the child with autism spectrum disorder for mothers...
November 29, 2016: Autism: the International Journal of Research and Practice
https://www.readbyqxmd.com/read/27899713/when-do-individuals-with-autism-spectrum-disorder-show-superiority-in-visual-search
#20
Aya Shirama, Nobumasa Kato, Makio Kashino
Although superior visual search skills have been repeatedly reported for individuals with autism spectrum disorder, the underlying mechanisms remain controversial. To specify the locus where individuals with autism spectrum disorder excel in visual search, we compared the performance of autism spectrum disorder adults and healthy controls in briefly presented search tasks, where the search display was replaced by a noise mask at a stimulus-mask asynchrony of 160 ms to interfere with a serial search process while bottom-up visual processing remains intact...
November 29, 2016: Autism: the International Journal of Research and Practice
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