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Heterogeneous disorder

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https://www.readbyqxmd.com/read/28239518/childhood-maltreatment-psychopathology-and-the-development-of-hippocampal-subregions-during-adolescence
#1
Sarah Whittle, Julian G Simmons, Sylke Hendriksma, Nandita Vijayakumar, Michelle L Byrne, Meg Dennison, Nicholas B Allen
INTRODUCTION: It is well established that childhood maltreatment has a detrimental impact on the brain, particularly the hippocampus. However, the hippocampus is a functionally and structurally heterogeneous region, and little is known about how maltreatment might affect hippocampal subregion development throughout important periods of plasticity. This study investigated whether childhood maltreatment was associated with the development of hippocampal subregion volumes from early to late adolescence...
February 2017: Brain and Behavior
https://www.readbyqxmd.com/read/28239362/reducing-the-diagnostic-heterogeneity-of-schizoaffective-disorder
#2
Katherine Seldin, Kristan Armstrong, Max L Schiff, Stephan Heckers
OBJECTIVE: Clinical outcome studies of schizoaffective disorder patients have yielded conflicting results. One reason is the heterogeneity of samples drawn from the schizoaffective disorder population. Here, we studied schizoaffective disorder patients who showed marked functional impairment and continuous signs of illness for at least 6 months (i.e., DSM criteria B and C for schizophrenia). METHODS: We assessed 176 chronic psychosis patients with a structured interview (SCID-IV-TR) and the Diagnostic Interview for Genetic Studies schizoaffective disorder module...
2017: Frontiers in Psychiatry
https://www.readbyqxmd.com/read/28238949/defective-axonal-transport-a-common-pathological-mechanism-in-inherited-and-acquired-peripheral-neuropathies
#3
Robert Prior, Lawrence Van Helleputte, Veronick Benoy, Ludo Van Den Bosch
Peripheral neuropathies are characterized by a progressive and length-dependent loss of peripheral nerve function. This can be caused either by genetic defects, classified as 'inherited peripheral neuropathies', or they can be acquired throughout life. In that case, the disease is caused by various insults such as toxins and mechanical injuries, or it can arise secondary to medical conditions such as metabolic disorders, nutritional deficiencies, inflammation and infections. Peripheral neuropathies are not only very heterogeneous in etiology, but also in their pathology and clinical presentation...
February 23, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28238116/the-immune-system-cytokines-and-biomarkers-in-autism-spectrum-disorder
#4
REVIEW
Anne Masi, Nicholas Glozier, Russell Dale, Adam J Guastella
Autism Spectrum Disorder (ASD) is a pervasive neurodevelopmental condition characterized by variable impairments in communication and social interaction as well as restricted interests and repetitive behaviors. Heterogeneity of presentation is a hallmark. Investigations of immune system problems in ASD, including aberrations in cytokine profiles and signaling, have been increasing in recent times and are the subject of ongoing interest. With the aim of establishing whether cytokines have utility as potential biomarkers that may define a subgroup of ASD, or function as an objective measure of response to treatment, this review summarizes the role of the immune system, discusses the relationship between the immune system, the brain, and behavior, and presents previously-identified immune system abnormalities in ASD, specifically addressing the role of cytokines in these aberrations...
February 25, 2017: Neuroscience Bulletin
https://www.readbyqxmd.com/read/28238099/phenotyping-based-treatment-improves-obstructive-sleep-apnea-symptoms-and-severity-a-pilot-study
#5
Ludovico Messineo, Roberto Magri, Luciano Corda, Laura Pini, Luigi Taranto-Montemurro, Claudio Tantucci
BACKGROUND: Obstructive sleep apnea is a common disorder characterized by multiple pathogenetic roots. Continuous positive airway pressure (CPAP) is almost always prescribed as the first-line treatment to all patients regardless of the heterogeneous pathophysiology, because it mechanically splints the airways open and reduces the collapsibility of the upper airway. Despite its high efficacy, CPAP is burdened by poor adherence and compliance rates. In this pilot study, we treated OSA patients with composite approaches different than CPAP, tailoring the therapeutic choice on OSA phenotypic traits...
February 25, 2017: Sleep & Breathing, Schlaf & Atmung
https://www.readbyqxmd.com/read/28237965/genetic-dissection-of-anterior-segment-dysgenesis-caused-by-a-col4a1-mutation
#6
Mao Mao, Márton Kiss, Yvonne Ou, Douglas B Gould
Ocular anterior segment dysgenesis (ASD) describes a spectrum of clinically and genetically heterogeneous congenital disorders affecting anterior structures that often lead to impaired vision. More importantly, between 50-75% of patients with ASD develop early onset and aggressive glaucoma. Although several genes have been implicated in the etiology of ASD, the underlying mechanisms remain elusive. Type IV collagen alpha 1 (COL4A1) is an extracellular matrix protein and a critical component of nearly all basement membranes...
February 24, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28237870/the-treatment-of-premenstrual-syndrome-with-preparations-of-vitex-agnus-castus-a-systematic-review-and-meta-analysis
#7
REVIEW
Saskia Verkaik, Astrid M Kamperman, Roos van Westrhenen, Peter F J Schulte
OBJECTIVE: The objective is to determine the efficacy, tolerability and acceptability of Vitex agnus castus (VAC) preparations for treatment of premenstrual syndrome. DATA SOURCES: All journals in the OVID software from inception to January 2016 were searched, including the Cochrane Central Register of Controlled Trials, MEDLINE, Embase and PsycINFO. Gray literature was searched by Google Scholar and manufacturers of VAC preparations were contacted for information about unpublished trials...
February 22, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28237314/preventive-motor-training-but-not-progenitor-grafting-ameliorates-cerebellar-ataxia-and-deregulated-autophagy-in-tambaleante-mice
#8
Elisa Fucà, Michela Guglielmotto, Enrica Boda, Ferdinando Rossi, Ketty Leto, Annalisa Buffo
Treatment options for degenerative cerebellar ataxias are currently very limited. A large fraction of such disorders is represented by hereditary cerebellar ataxias, whose familiar transmission facilitates an early diagnosis and may possibly allow to start preventive treatments before the onset of the neurodegeneration and appearance of first symptoms. In spite of the heterogeneous aetiology, histological alterations of ataxias often include the primary degeneration of the cerebellar cortex caused by Purkinje cells (PCs) loss...
February 22, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28237128/primary-immunodeficiency-diseases-in-northern-iran
#9
I Mohammadzadeh, B Moazzami, J Ghaffari, A Aghamohammadi, N Rezaei
INTRODUCTION: Primary immunodeficiency diseases (PID) are a heterogeneous group of inherited disorders, characterised by recurrent severe infections, autoimmunity and lymphoproliferation. Despite impressive progress in identification of novel PID, there is an unfortunate lack of awareness among physicians in identification of patients with PID, especially in non-capital cities of countries worldwide. RESULT: This study was performed in a single-centre paediatric hospital in Northern Iran during a 21-year period (1994-2015)...
February 22, 2017: Allergologia et Immunopathologia
https://www.readbyqxmd.com/read/28237048/heterogeneity-in-pathways-to-abstinence-among-women-in-treatment-for-alcohol-use-disorder
#10
Cathryn Glanton Holzhauer, Elizabeth E Epstein, Amy M Cohn, Barbara S McCrady, Fiona S Graff, Sharon Cook
BACKGROUND: Although many providers recommend alcohol abstinence as an initial step in the treatment of alcohol use disorders (AUD), there is a scarcity of research on specific behavioral strategies to achieve this step. The current study examined efficacy of a unique abstinence planning intervention for alcohol in a cognitive behavioral therapy (CBT) outpatient protocol. DESIGN: 128 women enrolled in a randomized controlled trial of CBT for AUD at a university-based clinic comprised the sample...
April 2017: Journal of Substance Abuse Treatment
https://www.readbyqxmd.com/read/28236988/-what-can-we-expect-from-clinical-trials-in-psychiatry
#11
A Marsot, Q Boucherie, F Kheloufi, C Riff, D Braunstein, J Dupouey, R Guilhaumou, X Zendjidjian, S Bonin-Guillaume, E Fakra, M Guye, V Jirsa, J-M Azorin, R Belzeaux, M Adida, J Micallef, O Blin
Clinical trials in psychiatry allow to build the regulatory dossiers for market authorization but also to document the mechanism of action of new drugs, to build pharmacodynamics models, evaluate the treatment effects, propose prognosis, efficacy or tolerability biomarkers and altogether to assess the impact of drugs for patient, caregiver and society. However, clinical trials have shown some limitations. Number of recent dossiers failed to convince the regulators. The clinical and biological heterogeneity of psychiatric disorders, the pharmacokinetic and pharmacodynamics properties of the compounds, the lack of translatable biomarkers possibly explain these difficulties...
December 2016: L'Encéphale
https://www.readbyqxmd.com/read/28236851/infant-acetylcholine-dopamine-and-melatonin-dysregulation-neonatal-biomarkers-and-causal-factors-for-asd-and-adhd-phenotypes
#12
Kahl Hellmer, Pär Nyström
Autism spectrum disorders (ASD) and ADHD are common neurodevelopmental disorders that benefit from early intervention but currently suffer from late detection and diagnosis: neurochemical dysregulations are extant already at birth but clinical phenotypes are not distinguishable until preschool age or later. The vast heterogeneity between subjects' phenotypes relates to interaction between multiple unknown factors, making research on factor causality insurmountable. To unlock this situation we pose the hypothesis that atypical pupillary light responses from rods, cones, and the recently discovered ipRGC system reflect early acetylcholine, melatonin, and dopamine dysregulation that are sufficient but not necessary factors for developing ASD and/or ADHD disorders...
March 2017: Medical Hypotheses
https://www.readbyqxmd.com/read/28236619/comparison-between-acupuncture-and-biofeedback-as-adjunctive-treatments-for-primary-insomnia-disorder
#13
Hsien-Te Huang, Shang-Lun Lin, Chi-Hung Lin, Dong-Sheng Tzeng
Context • Insomnia affects from 5% to 35% of the general population worldwide. Primary insomnia disorder is the most frequently diagnosed, sleep-related disorder. Pharmacological treatments remain the most widely used treatments for insomnia. Nonpharmacological treatments for primary insomnia disorder have been found to be effective. Objective • This study intended to determine the appropriateness of acupuncture and biofeedback as adjuncts to medication for primary insomnia disorder. Design • The research team designed a randomized, controlled study...
February 27, 2017: Alternative Therapies in Health and Medicine
https://www.readbyqxmd.com/read/28236339/mutations-of-the-aminoacyl-trna-synthetases-sars-and-wars2-are-implicated-in-the-aetiology-of-autosomal-recessive-intellectual-disability
#14
Luciana Musante, Lucia Püttmann, Kimia Kahrizi, Masoud Garshasbi, Hao Hu, Henning Stehr, Bettina Lipkowitz, Sabine Otto, Lars R Jensen, Andreas Tzschach, Payman Jamali, Thomas Wienker, Hossein Najmabadi, Hans Hilger Ropers, Andreas W Kuss
Intellectual disability (ID) is the hallmark of an extremely heterogeneous group of disorders that comprises a wide variety of syndromic and non-syndromic phenotypes. Here we report on mutations in two aminoacyl-tRNA synthetases that are associated with ID in two unrelated Iranian families. In the first family, we identified a homozygous missense mutation (c.514G>A, p.Asp172Asn) in the cytoplasmic seryl-tRNA synthetase (SARS) gene. The mutation affects the enzymatic core domain of the protein and impairs its enzymatic activity, probably leading to reduced cytoplasmic tRNA(Ser) concentrations...
February 25, 2017: Human Mutation
https://www.readbyqxmd.com/read/28236292/the-role-of-genomics-in-common-variable-immunodeficiency-disorders
#15
REVIEW
Anne-Kathrin Kienzler, Chantal E Hargreaves, Smita Y Patel
The advent of next generation sequencing (NGS) and 'omic' technologies has revolutionised the field of genetics and its implementation in healthcare has the potential to realise precision medicine. Primary immunodeficiencies (PID) are a group of rare diseases which have benefitted from NGS, with a massive increase in causative genes identified in the past few years. Common Variable Immunodeficiency Disorders (CVID) are a heterogeneous form of PID and the most common form of antibody failure in children and adults...
February 25, 2017: Clinical and Experimental Immunology
https://www.readbyqxmd.com/read/28230908/probiotics-for-people-with-hepatic-encephalopathy
#16
REVIEW
Rohan Dalal, Richard G McGee, Stephen M Riordan, Angela C Webster
BACKGROUND: Hepatic encephalopathy is a disorder of brain function as a result of liver failure or portosystemic shunt or both. Both hepatic encephalopathy (clinically overt) and minimal hepatic encephalopathy (not clinically overt) significantly impair patient's quality of life and daily functioning, and represent a significant burden on healthcare resources. Probiotics are live micro-organisms, which when administered in adequate amounts, may confer a health benefit on the host. OBJECTIVES: To determine the beneficial and harmful effects of probiotics in any dosage, compared with placebo or no intervention, or with any other treatment for people with any grade of acute or chronic hepatic encephalopathy...
February 23, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28230413/the-effects-of-cognitive-behavioral-therapy-are-not-systematically-falling-a-revision-of-johnsen-and-friborg-2015
#17
Ioana A Cristea, Simona Stefan, Eirini Karyotaki, Daniel David, Steven D Hollon, Pim Cuijpers
In a meta-analysis, Johnsen and Friborg (2015) reported a significant negative relationship between publication year and the effect sizes (ESs) of cognitive-behavioral therapy (CBT) for depressive disorders, suggesting its effectiveness was falling. We identified a series of methodological and conceptual caveats and consequently redid the meta-analysis. We used the same inclusion criteria, but only included randomized controlled trials and searched for additional eligible trials. We computed both within-group and between-group ESs for the CBT arm for the Beck Depression Inventory (BDI) and the Hamilton Rating Scale for Depression (HRSD)...
March 2017: Psychological Bulletin
https://www.readbyqxmd.com/read/28229290/the-patients-perspective-living-with-lupus-in-austria
#18
Georg Stummvoll, Tanja Stamm
Systemic lupus erythematosus (SLE) is a heterogeneous disease with a vast variety of clinical manifestations. Timely diagnosis is important for gaining access to specific therapy and care. In this survey, we asked SLE patients with an established diagnosis to report about their personal history and their daily life with SLE in order to gain knowledge about diagnostics, treatment pathways and potential problems in daily living and functioning. In most cases, the diagnosis of SLE was made by a specialist in rheumatology or dermatology...
February 22, 2017: Wiener Klinische Wochenschrift
https://www.readbyqxmd.com/read/28229108/how-age-sex-and-genotype-shape-the-stress-response
#19
REVIEW
Ashley Novais, Susana Monteiro, Susana Roque, Margarida Correia-Neves, Nuno Sousa
Exposure to chronic stress is a leading pre-disposing factor for several neuropsychiatric disorders as it often leads to maladaptive responses. The response to stressful events is heterogeneous, underpinning a wide spectrum of distinct changes amongst stress-exposed individuals'. Several factors can underlie a different perception to stressors and the setting of distinct coping strategies that will lead to individual differences on the susceptibility/resistance to stress. Beyond the factors related to the stressor itself, such as intensity, duration or predictability, there are factors intrinsic to the individuals that are relevant to shape the stress response, such as age, sex and genetics...
February 2017: Neurobiology of Stress
https://www.readbyqxmd.com/read/28228283/adipose-type-one-innate-lymphoid-cells-regulate-macrophage-homeostasis-through-targeted-cytotoxicity
#20
Selma Boulenouar, Xavier Michelet, Danielle Duquette, David Alvarez, Andrew E Hogan, Christina Dold, Donal O'Connor, Suzanne Stutte, Ali Tavakkoli, Desmond Winters, Mark A Exley, Donal O'Shea, Michael B Brenner, Ulrich von Andrian, Lydia Lynch
Adipose tissue has a dynamic immune system that adapts to changes in diet and maintains homeostatic tissue remodeling. Adipose type 1 innate lymphoid cells (AT1-ILCs) promote pro-inflammatory macrophages in obesity, but little is known about their functions at steady state. Here we found that human and murine adipose tissue harbor heterogeneous populations of AT1-ILCs. Experiments using parabiotic mice fed a high-fat diet (HFD) showed differential trafficking of AT1-ILCs, particularly in response to short- and long-term HFD and diet restriction...
February 21, 2017: Immunity
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