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atypical development

Cynthia L Blanco, Amalia Gastaldelli, Diana G Anzueto, Lauryn A Winter, Steven R Seidner, Donald C McCurnin, Hanyu Liang, Martin A Javors, Ralph A DeFronzo, Nicolas Musi
Premature baboons exhibit peripheral insulin resistance and impaired insulin signaling. 5' AMP-activated protein kinase (AMPK) activation improves insulin sensitivity by enhancing glucose uptake (via increased glucose transporter type 4 [GLUT4] translocation and activation of the extracellular signal-regulated kinase [ERK]/ atypical protein kinase C [aPKC] pathway), and increasing fatty acid oxidation (via inhibition of acetyl-CoA carboxylase 1 [ACC]), while downregulating gluconeogenesis (via induction of small heterodimer partner [SHP] and subsequent downregulation of the gluconeogenic enzymes: phosphoenolpyruvate carboxykinase [PEPCK], glucose 6-phosphatase [G6PASE], fructose- 1,6-bisphosphatase 1 [FBP1], and forkhead box protein 1 [FOXO1])...
2018: PloS One
Stefan C Weise, Ganeshkumar Arumugam, Alejandro Villarreal, Pavankumar Videm, Stefanie Heidrich, Nils Nebel, Verónica I Dumit, Farahnaz Sananbenesi, Viktoria Reimann, Madeline Craske, Oliver Schilling, Wolfgang R Hess, Andre Fischer, Rolf Backofen, Tanja Vogel
Rett syndrome is a complex neurodevelopmental disorder that is mainly caused by mutations in MECP2. However, mutations in FOXG1 cause a less frequent form of atypical Rett syndrome, called FOXG1 syndrome. FOXG1 is a key transcription factor crucial for forebrain development, where it maintains the balance between progenitor proliferation and neuronal differentiation. Using genome-wide small RNA sequencing and quantitative proteomics, we identified that FOXG1 affects the biogenesis of miR200b/a/429 and interacts with the ATP-dependent RNA helicase, DDX5/p68...
December 11, 2018: Molecular Neurobiology
Ruoxi Wang, Jieqiong Tan, Tingting Chen, Hailong Han, Runyi Tian, Ya Tan, Yiming Wu, Jingyi Cui, Fang Chen, Jie Li, Lu Lv, Xinjie Guan, Shuai Shang, Jiahong Lu, Zhuohua Zhang
Mutations in ATP13A2 cause Kufor-Rakeb syndrome, an autosomal recessive form of juvenile-onset atypical Parkinson's disease (PD). Recent work tied ATP13A2 to autophagy and other cellular features of neurodegeneration, but how ATP13A2 governs numerous cellular functions in PD pathogenesis is not understood. In this study, the ATP13A2-deficient mouse developed into aging-dependent phenotypes resembling those of autophagy impairment. ATP13A2 deficiency impaired autophagosome-lysosome fusion in cultured cells and in in vitro reconstitution assays...
December 11, 2018: Journal of Cell Biology
Katharina Welsch, Helmut Breuninger, Gisela Metzler, Franziska Sickinger, Franziska Carola Eberle, Hans-Martin Häfner, Saskia Maria Schnabl
BACKGROUND: Cutaneous sarcomas are rare and characterized by pathogenetic heterogeneity. Knowledge about local infiltration patterns and recurrence rates may be useful in improving patient care and outcomes. The objective of the present study was to compare these two characteristics in sarcomas that had been treated using the identical surgical procedure. PATIENTS AND METHODS: Between 2006-2010, 84 patients with various types of sarcoma underwent surgery followed by three-dimensional histology...
December 2018: Journal der Deutschen Dermatologischen Gesellschaft, Journal of the German Society of Dermatology: JDDG
M A H Monden, L P van der Vorst, H J M Martens, A van der Wolk
Hyponatremia, as a result of the syndrome of inappropriate antidiuretic hormone secretion (SIADH), is well known with the use of nearly all antipsychotics and mood stabilizers. The first symptoms are atypical and are not always mentioned by the patient. However, not recognising the syndrome in due time can be lethal. We describe a 35-year-old woman who died due to lack of recognition of SIADH. The patient, who had a bipolar disorder and was for a long time on a paliperidone depot, developed complaints of nausea, vomiting and thirst after lamotrigine was prescribed...
2018: Tijdschrift Voor Psychiatrie
Unax Lertxundi, Itsasne Erezuma, Rafael Hernandez, Juan Medrano, Montserrat Garcia, Carmelo Aguirre
One of the possible long-term consequences of antipsychotic-induced hyperprolactinemia is the development of pituitary tumors - prolactinomas. So far, two pharmacovigilance studies of spontaneous adverse event report databases have suggested an increased risk, whereas a longitudinal study carried out with risperidone showed no evidence of increased risk of tumors with mass effect. Besides, information on amisulpride and paliperidone is lacking. Thus, in this study, we aimed to analyze the European pharmacovigilance database (EudraVigilance) to shed light on this issue...
December 10, 2018: International Clinical Psychopharmacology
Louis Jacob, Jens Bohlken, Bettina Schmitz, Karel Kostev
AIMS: Little is known about the recent epidemiology of epilepsy in the elderly in Germany. Therefore, the goal of this study was to analyze the incidence of epilepsy and associated factors in elderly patients followed in general practices in this country. METHODS: The incidence of epilepsy was estimated using data from all patients aged ≥60 years who were followed in 1203 general practices in Germany in 2017 (IQVIA Disease Analyzer database). The association between predefined variables and epilepsy was further studied using a case-control design (n = 4690 matched pairs)...
December 4, 2018: Epilepsy & Behavior: E&B
Raghunath Singh, Yashika Bansal, Bikash Medhi, Anurag Kuhad
Atypical antipsychotics (AAPs) are the drug of choice in the management of mental illnesses by virtue of their advantage over typical antipsychotics i.e. least tendency of producing extrapyramidal motor symptoms (EPS) or pseudoparkinsonism. Despite the clinical efficacy, AAPs produces troublesome adverse effects, particularly hyperphagia, hyperglycemia, dyslipidemia weight gain, diabetes mellitus, insulin resistance and QT prolongation which further develops metabolic and cardiac complications with subsequent reduction in life expectancy, poor patient compliance, and sudden death...
December 7, 2018: European Journal of Pharmacology
Antoine C El Khoury, Dominic Pilon, Laura Morrison, Nina Shak, Maude Vermette-Laforme, Tony B Amos, Edward Kim, Patrick Lefebvre
OBJECTIVES: Multiple real-world studies have reported potential cost savings associated with second-generation antipsychotic long-acting injectable therapies (SGA-LAIs), including once-monthly paliperidone palmitate (PP1M). Yet, only about 12% of Medicaid patients with schizophrenia initiate SGA-LAIs, with poor adherence contributing to frequent relapse among patients on oral atypical antipsychotics (OAAs). The objective of this study was to project the economic impact when an incremental proportion of non-adherent patients with a recent relapse switched from OAAs to PP1M...
December 10, 2018: Current Medical Research and Opinion
Lynne G Duncan
Purpose of Review: Although spoken language in the form of meta-linguistic awareness is widely regarded as being involved in reading development, the extensive literature based on different experimental tasks, age groups, and languages makes it difficult to establish consensus about the type of awareness that is critical and the mechanisms underlying this relationship. The purpose of this review is to explore the links between reading and two specific aspects of meta-linguistic awareness, namely, phoneme awareness and morpheme awareness...
2018: Current Developmental Disorders Reports
Mini Michael, Nancy Turner, Ewa Elenberg, Linda G Shaffer, Jun Teruya, Mazen Arar, Shiu-Ki Hui, Richard J Smith, Joel Moake
A 3-month-old male infant developed an extremely severe episode of atypical hemolytic uremic syndrome (aHUS) associated with partial deficiencies of full-length complement factor H (FH; ∼15% of infant normal) and a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13 (ADAMTS13) (39% of normal) and autoantibodies reactive with both proteins. His FH and ADAMTS13 genes were normal, indicating that the partial deficiencies were acquired, probably as the result of autoantibodies against full-length FH and ADAMTS13...
December 2018: Clinical Kidney Journal
Atiqah Azhari, Farouq Azizan, Gianluca Esposito
Despite decades of research, the etiological origins of Autism Spectrum Disorder (ASD) remain elusive. Recently, the mechanisms of ASD have encompassed emerging theories involving the gastrointestinal, immune, and nervous systems. While each of these perspectives presents its own set of supporting evidence, the field requires an integration of these modular concepts and an overarching view of how these subsystems intersect. In this systematic review, we have synthesized relevant evidences from the existing literature, evaluating them in an interdependent manner and in doing so, outlining their possible connections...
December 6, 2018: Developmental Psychobiology
A de Marchena, E S Kim, A Bagdasarov, J Parish-Morris, B B Maddox, E S Brodkin, R T Schultz
While well-represented on clinical measures, co-speech gesture production has never been formally studied in autistic adults. Twenty-one verbally fluent autistic adults and 21 typically developing controls engaged in a controlled conversational task. Group differences were observed in both semantic/pragmatic and motoric features of spontaneously produced co-speech gestures. Autistic adults prioritized different functions of co-speech gesture. Specifically, they used gesture more than controls to facilitate conversational turn-taking, demonstrating a novel nonverbal strategy for regulating conversational dynamics...
December 6, 2018: Journal of Autism and Developmental Disorders
Erica D Arroyo, Daniel Fiole, Shilpa Mantri, Claire X Huang, Carlos Portera-Cailliau
Autism spectrum disorders (ASD) are often associated with atypical sensory processing and sensory hypersensitivity, which can lead to maladaptive behaviors, such as tactile defensiveness. Such altered sensory perception in ASD could arise from disruptions in experience-dependent maturation of circuits during early brain development. Here, we tested the hypothesis that synaptic structures of primary somatosensory cortex (S1) neurons in Fragile X syndrome (FXS), which is a common inherited cause of autism, are not modulated by novel sensory information during development...
December 6, 2018: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
Lei Li, Ying Meng, Zhiyu Li, Wenhao Dai, Xi Xu, Xiaoling Bi, Jinlei Bian
Cancer cells have been confirmed diverge significantly from normal cells on the metabolic properties. Energy production in cancer cells is abnormally dependent on the glycolysis pathway and other atypical metabolic characteristics such as increased fatty acid synthesis and increased rates of glutamine metabolism. Among these metabolic features of cancers, glutamine metabolism has been reported to be the main energy supply for the growth and viability of a potentially large subset of malignant tumors. In addition, the significance of glutamine metabolism in cancer cells derives from the ability of donate its nitrogen and carbon atoms for the synthesis of important biologically substances...
November 28, 2018: European Journal of Medicinal Chemistry
Jacqueline Dinnes, Jonathan J Deeks, Matthew J Grainge, Naomi Chuchu, Lavinia Ferrante di Ruffano, Rubeta N Matin, David R Thomson, Kai Yuen Wong, Roger Benjamin Aldridge, Rachel Abbott, Monica Fawzy, Susan E Bayliss, Yemisi Takwoingi, Clare Davenport, Kathie Godfrey, Fiona M Walter, Hywel C Williams
BACKGROUND: Melanoma has one of the fastest rising incidence rates of any cancer. It accounts for a small percentage of skin cancer cases but is responsible for the majority of skin cancer deaths. History-taking and visual inspection of a suspicious lesion by a clinician is usually the first in a series of 'tests' to diagnose skin cancer. Establishing the accuracy of visual inspection alone is critical to understating the potential contribution of additional tests to assist in the diagnosis of melanoma...
December 3, 2018: Cochrane Database of Systematic Reviews
Jacqueline Dinnes, Jonathan J Deeks, Naomi Chuchu, Lavinia Ferrante di Ruffano, Rubeta N Matin, David R Thomson, Kai Yuen Wong, Roger Benjamin Aldridge, Rachel Abbott, Monica Fawzy, Susan E Bayliss, Matthew J Grainge, Yemisi Takwoingi, Clare Davenport, Kathie Godfrey, Fiona M Walter, Hywel C Williams
BACKGROUND: Melanoma has one of the fastest rising incidence rates of any cancer. It accounts for a small percentage of skin cancer cases but is responsible for the majority of skin cancer deaths. Although history-taking and visual inspection of a suspicious lesion by a clinician are usually the first in a series of 'tests' to diagnose skin cancer, dermoscopy has become an important tool to assist diagnosis by specialist clinicians and is increasingly used in primary care settings. Dermoscopy is a magnification technique using visible light that allows more detailed examination of the skin compared to examination by the naked eye alone...
December 3, 2018: Cochrane Database of Systematic Reviews
Jacqueline Dinnes, Jonathan J Deeks, Daniel Saleh, Naomi Chuchu, Susan E Bayliss, Lopa Patel, Clare Davenport, Yemisi Takwoingi, Kathie Godfrey, Rubeta N Matin, Rakesh Patalay, Hywel C Williams
BACKGROUND: Melanoma has one of the fastest rising incidence rates of any cancer. It accounts for a small percentage of skin cancer cases but is responsible for the majority of skin cancer deaths. Early detection and treatment is key to improving survival; however, anxiety around missing early cases needs to be balanced against appropriate levels of referral and excision of benign lesions. Used in conjunction with clinical or dermoscopic suspicion of malignancy, or both, reflectance confocal microscopy (RCM) may reduce unnecessary excisions without missing melanoma cases...
December 3, 2018: Cochrane Database of Systematic Reviews
Li Luo, Bing Luo, Ying Zheng, Heng Zhang, Jing Li, Neil Sidell
BACKGROUND: Endometrial carcinoma is the most common gynaecologic malignancy in the world and develops through preliminary stages of endometrial hyperplasia. Atypical endometrial hyperplasia suggests a significant pre-malignant state with frank progression to endometrial carcinoma, and tends to occur at a young age. Oral progestins have been used as conservative treatment in young women with atypical endometrial hyperplasia, but they are associated with poor tolerability and side effects that may limit their overall efficacy...
December 4, 2018: Cochrane Database of Systematic Reviews
Lukas Grassner, Franz Marhold, Yousif Miron, Andreas Grillhösl, Karl Ungersboeck, Joachim Schulz, Martin Strowitzki
BACKGROUND: Decompressive craniectomy is a commonly performed procedure. It reduces intracranial pressure, improves survival, and thus might have a positive impact on several neurosurgical diseases and emergencies. Sometimes primary skin closure is not possible due to cerebral herniation or extensive skin defects. In order to prevent further restriction of the underlying tissue, a temporary skin expansion might be necessary. METHODS AND MATERIAL: We retrospectively reviewed patients in need for a temporary skin substitute because skin closure was not possible after craniectomy without violating brain tissue underneath in a time period of 6 years (2011-2016)...
December 4, 2018: Acta Neurochirurgica
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