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https://www.readbyqxmd.com/read/29332605/antidepressant-use-during-pregnancy-and-risk-of-autism-spectrum-disorder-and-attention-deficit-hyperactivity-disorder-systematic-review-of-observational-studies-and-methodological-considerations
#1
Daniel R Morales, Jim Slattery, Stephen Evans, Xavier Kurz
BACKGROUND: Antidepressant exposure during pregnancy has been associated with an increased risk of autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) in several observational studies. We performed a systematic review of these studies to highlight the effect that important methodological limitations have on such analyses and to consider approaches to the conduct, reporting and interpretation of future studies. METHODS: A review of MEDLINE and EMBASE identified case-control, cohort and sibling studies assessing the risk of ASD and ADHD with antidepressant use during pregnancy...
January 15, 2018: BMC Medicine
https://www.readbyqxmd.com/read/29332587/lysosomal-acid-lipase-deficiency-could-dyslipidemia-drive-the-diagnosis
#2
Ornella Guardamagna
LAL-deficiency (LAL-D) is a rare and systemic condition, secondary to LIPA gene mutations, responsible for lysosomal accumulation of cholesteryl esters and triglycerides, whose manifestations are very heterogeneous in terms of age of onset, severity and type of clinical and radiological manifestations. Dyslipidemia, hepatomegaly and hepatosteatosis with increased levels of transaminases are the most common features. The increased risk of premature atherosclerosis and cardiovascular disorders,, secondary to a generalized alteration of lipid profile and lipoprotein dysfunction associated with LAL-D, has been increasingly pointed out...
January 11, 2018: Current Pediatric Reviews
https://www.readbyqxmd.com/read/29332568/fgf-21-as-a-potential-biomarker-for-mitochondrial-diseases
#3
Leila Motlagh Scholle, Diana Lehmann, Marcus Deschauer, Torsten Kraya, Stephan Zierz
The diagnosis of mitochondrial diseases is still challenging due to clinical and genetical heterogeneity. The development of advanced technologies including Whole-Exome-Sequencing (WES) and Whole-Genome-Sequencing (WGS) have led to improvements in genetic diagnosis. However, a reliable biomarker in serum could enhance and ease the diagnosis and indeed reduce the need for muscle biopsy. Several studies suggest Fibroblast growth factor 21 (FGF-21) as a biomarker for diagnosis in mitochondrial disorders. It is known, that in patients with mitochondrial disorders, the expression of FGF-21 gets elevated in an effort to counteract the underlying metabolic deficiency...
January 10, 2018: Current Medicinal Chemistry
https://www.readbyqxmd.com/read/29332070/pathophysiologic-basis-of-movement-disorders
#4
Thomas Wichmann
Movement disorders are common and functionally disabling neurologic diseases. Studies over the last decades have investigated the pathophysiology of these diseases in considerable detail, leading to significant insights into their generation of motor disability. While genetically and clinically heterogeneous, most of them are accompanied by prominent and characteristic changes in firing rates and patterns in the basal ganglia, thalamus, and cortex. In recent years, researchers have placed increasing emphasis on the importance of oscillatory changes in firing in these structures, and have discovered that brain areas that were previously considered to be remote from the basal ganglia (such as the cerebellum and the pedunculopontine nucleus) are also highly significant in these disorders...
2018: Progress in Neurological Surgery
https://www.readbyqxmd.com/read/29331882/association-analysis-of-slc6a4-and-htr2a-genes-with-obsessive-compulsive-disorder-influence-of-the-stin2-polymorphism
#5
Chayenne Karine Ferreira Gomes, Tamiris Vieira-Fonseca, Fernanda Brito Melo-Felippe, Juliana Braga de Salles Andrade, Leonardo F Fontenelle, Fabiana Barzotti Kohlrausch
BACKGROUND: Obsessive-Compulsive Disorder (OCD) is a complex and chronic disorder characterized by recurrent thoughts and/or repetitive behaviors. Given the potent anti-obsessional effects of the so-called serotonin reuptake inhibitors, genes related to serotonergic system may be well implicated in the etiopathogenesis of OCD. The gene encoding the serotonin transporter (SLC6A4), which shows a variable number of tandem repeat (VNTR) polymorphism in intron 2 (STin2), have been previously associated with OCD...
December 16, 2017: Comprehensive Psychiatry
https://www.readbyqxmd.com/read/29331073/cerebrospinal-fluid-macrophage-biomarkers-in-amyotrophic-lateral-sclerosis
#6
A G Thompson, E Gray, M-L Thézénas, P D Charles, S Evetts, M T Hu, K Talbot, R Fischer, B M Kessler, M R Turner
Objective The neurodegenerative disease amyotrophic lateral sclerosis (ALS) is a heterogeneous clinical syndrome involving multiple molecular pathways. The development of biomarkers for use in therapeutic trials is a priority. We sought to use a high-throughput proteomic method to identify novel biomarkers in individual cerebrospinal fluid samples. Methods Liquid chromatography-tandem mass spectrometry with label-free quantification was used to identify cerebrospinal fluid proteins using samples from a well-characterised longitudinal cohort comprising patients with ALS (n=43), the upper motor neuron variant primary lateral sclerosis (PLS, n=6), cross-sectional healthy (n=20) and disease controls (Parkinsons's n=20, ALS mimic disorders n=12)...
January 13, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29331002/genetics-of-human-hereditary-hearing-impairment
#7
Rahat Meena, Muhammad Ayub
Hereditary hearing impairment is heterogeneous type of disorder which can be caused due to environmental as well as genetical factors. Two distinct types of hereditary hearing loss are syndromic or non-syndromic. Non-syndromic hearing loss is further categorized as autosomal recessive, autosomal dominant, X-linked and mitochondrial deafness. Autosomal recessive occurs more frequently as compared to autosomal dominant. Mutations in various genes are responsible for hereditary hearing impairment. To date, about 99 autosomal recessives and 67 autosomal dominant genes for deafness have been discovered...
October 2017: Journal of Ayub Medical College, Abbottabad: JAMC
https://www.readbyqxmd.com/read/29330757/-myelodysplastic-syndrome-acute-leukemia-and-stem-cell-transplantation
#8
REVIEW
M Schmalzing, M Aringer, M Bornhäuser, J Atta
Myelodysplastic syndromes (MDS) represent a heterogeneous group of clonal hematopoietic stem cell disorders. They are characterized by inefficient hematopoiesis leading to peripheral cytopenia of one or more lineages and a variable risk of transformation into acute myeloid leukemia. They may either arise de novo as well as following exposition to environmental toxins, previous radiotherapy or chemotherapy or in the context of autoinflammatory diseases and related therapy. Characteristic cytogenetic abnormalities, along with the numbers of hematopoietic lineages affected and bone marrow blasts, enable an assessment of the risk of leukemic transformation...
October 2017: Zeitschrift Für Rheumatologie
https://www.readbyqxmd.com/read/29330410/the-impact-of-comt-and-childhood-maltreatment-on-suicidal-behaviour-in-affective-disorders
#9
Alexandra Bernegger, Klemens Kienesberger, Laura Carlberg, Patrick Swoboda, Birgit Ludwig, Romina Koller, Michelle Inaner, Melanie Zotter, Nestor Kapusta, Martin Aigner, Helmuth Haslacher, Siegfried Kasper, Alexandra Schosser
The inconsistent findings on the association between COMT (catecholamine-O-methyl-transferase) and suicidal behaviour gave reason to choose a clear phenotype description of suicidal behaviour and take childhood maltreatment as environmental factor into account. The aim of this candidate-gene-association study was to eliminate heterogeneity within the sample by only recruiting affective disorder patients and find associations between COMT polymorphisms and defined suicidal phenotypes. In a sample of 258 affective disorder patients a detailed clinical assessment (e...
January 12, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29330115/pediatric-onset-evans-syndrome-heterogeneous-presentation-and-high-frequency-of-monogenic-disorders-including-lrba-and-ctla4-mutations
#10
Caroline Besnard, Eva Levy, Nathalie Aladjidi, Marie-Claude Stolzenberg, Aude Magerus-Chatinet, Olivier Alibeu, Patrick Nitschke, Stéphane Blanche, Olivier Hermine, Eric Jeziorski, Judith Landman-Parker, Guy Leverger, Nizar Mahlaoui, Gérard Michel, Isabelle Pellier, Felipe Suarez, Isabelle Thuret, Geneviève de Saint-Basile, Capucine Picard, Alain Fischer, Bénédicte Neven, Frédéric Rieux-Laucat, Pierre Quartier
Evans syndrome (ES) is defined by the combination of autoimmune hemolytic anemia and immune thrombocytopenia. Clinical presentation includes manifestations of immune dysregulation, found in primary immune deficiencies, autoimmune lymphoproliferative syndrome with FAS (ALPS-FAS), Cytotoxic T Lymphocyte Antigen-4 (CTLA-4) and Lipopolysaccharide-Responsive vesicle trafficking Beige-like and Anchor protein (LRBA) defects. We report the clinical history and genetic results of 18 children with ES after excluding ALPS-FAS...
January 9, 2018: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/29329579/prevalence-and-incidence-of-major-depressive-disorders-among-people-living-with-hiv-residing-in-africa-a-systematic-review-and-meta-analysis-protocol
#11
Jean Joel Bigna, Lewis N Um, Serra Lem Asangbeh, Aurelie T Sibetcheu, Arnaud D Kazé, Jobert Richie Nansseu
BACKGROUND: Depression represents one of the most frequent neuro-psychiatric diseases; it seems to be more prevalent in people living with HIV compared to the general population. However, summarized data in the African setting on the topic are scarce. This systematic review and meta-analysis aims at assessing the prevalence and incidence of major depressive disorders (MDD) in HIV-infected African populations residing in Africa. METHODS AND DESIGN: This review will include observational studies conducted among HIV-infected people residing in Africa, which have reported either the prevalence or incidence of MDD or enough data for its appraisal...
January 12, 2018: Systematic Reviews
https://www.readbyqxmd.com/read/29329511/classifying-and-characterizing-the-development-of-adaptive-behavior-in-a-naturalistic-longitudinal-study-of-young-children-with-autism
#12
Cristan Farmer, Lauren Swineford, Susan E Swedo, Audrey Thurm
BACKGROUND: Adaptive behavior, or the ability to function independently in ones' environment, is a key phenotypic construct in autism spectrum disorder (ASD). Few studies of the development of adaptive behavior during preschool to school-age are available, though existing data demonstrate that the degree of ability and impairment associated with ASD, and how it manifests over time, is heterogeneous. Growth mixture models are a statistical technique that can help parse this heterogeneity in trajectories...
January 5, 2018: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/29329058/association-of-comorbid-personality-disorders-with-clinical-characteristics-and-outcome-in-a-randomized-controlled-trial-comparing-two-psychotherapies-for-early-onset-persistent-depressive-disorder
#13
Nele Erkens, Elisabeth Schramm, Levente Kriston, Martin Hautzinger, Martin Härter, Ulrich Schweiger, Jan Philipp Klein
BACKGROUND: Persistent depressive disorder (PDD) is associated with high rates of comorbid personality disorders (PD). The association of comorbid PD and clinical characteristics has not been systematically studied in PDD. Results regarding effects on treatment outcome are heterogeneous. METHODS: We analyzed the association of comorbid personality disorders with clinical characteristics and outcome in a randomized controlled trial comparing the disorder-specific Cognitive Behavioral Analysis System of Psychotherapy (CBASP) with nonspecific supportive psychotherapy (SP) in patients with early-onset PDD...
January 4, 2018: Journal of Affective Disorders
https://www.readbyqxmd.com/read/29329050/factors-influencing-the-severity-of-behavioral-phenotype-in-autism-spectrum-disorders-implications-for-research
#14
Mingyang Zou, Caihong Sun, Jia Wang, Jing Kang, Zhanbin Xu, Yongjuan Ma, Lei Chen, Xinxi Zhang, Wei Xia, Lijie Wu
The phenotypic heterogeneity of Autism Spectrum Disorders (ASD) presents particular research challenges in the assessment of symptom severity, while the standardized Autism Diagnostic Observation Schedule (ADOS) scores present a severity metric, namely calibrated severity scores (CSS) that are relatively impervious to individual characteristics. To date, no studies have examined the convergent validity of CSS in Chinese sample populations. The present study investigated the validity of the ADOS-CSS using a sample of 321 children aged 2-18 years with ASD, and developed upon existing literature examining the influence of non-ASD-specific characteristics on other types of measures including Autism Diagnostic Interview-Revised (ADI-R), Social Responsiveness Scale (SRS), and Vineland Adaptive Behavior Scales (VABS)...
January 5, 2018: Psychiatry Research
https://www.readbyqxmd.com/read/29328948/psychopathology-and-episodic-future-thinking-a-systematic-review-and-meta-analysis-of-specificity-and-episodic-detail
#15
D J Hallford, D W Austin, K Takano, F Raes
Episodic future thinking (EFT) refers to the mental simulation of future events that might be personally-experienced; a crucial mental process in adaptation. Psychiatric disorders are associated with deficits in recalling episodic memory, however, no study has reviewed the empirical literature to assess for similar deficits in EFT. A systematic review comparing psychiatric groups with control groups on the specificity and episodic detail of EFT returned 19 eligible studies. An overall effect of g = -0.84 (95%CI = -1...
January 5, 2018: Behaviour Research and Therapy
https://www.readbyqxmd.com/read/29328008/-posttraumatic-stress-disorder-current-insights-in-diagnostics-treatment-and-prevention
#16
A Lok, J L Frijling, M van Zuiden
- Posttraumatic stress disorder (PTSD) is a psychiatric disorder that may develop after traumatic events.- PTSD is one of the most prevalent psychiatric disorders in the Netherlands, with an estimated lifetime prevalence of 7%.- Recurrent re-experiencing of the traumatic event is the most characteristic PTSD symptom.- Recognition of PTSD may be hampered by the heterogeneous symptomatology, avoidance to talk about the trauma and highly frequent comorbid psychiatric and somatic comorbidity.- Feelings of guilt and shame may also influence reported trauma history...
2018: Nederlands Tijdschrift Voor Geneeskunde
https://www.readbyqxmd.com/read/29327808/the-rocky-road-to-personalized-medicine-in-acute-myeloid-leukaemia
#17
REVIEW
Bryan Brinda, Irum Khan, Brian Parkin, Heiko Konig
Acute myeloid leukaemia (AML) is a malignant disorder of the myeloid blood lineage characterized by impaired differentiation and increased proliferation of hematopoietic precursor cells. Recent technological advances have led to an improved understanding of AML biology but also uncovered the enormous cytogenetic and molecular heterogeneity of the disease. Despite this heterogeneity, AML is mostly managed by a 'one-size-fits-all' approach consisting of intensive, highly toxic induction and consolidation chemotherapy...
January 12, 2018: Journal of Cellular and Molecular Medicine
https://www.readbyqxmd.com/read/29327533/post-transplant-lymphoproliferative-disorder
#18
G S Chowdhary, Malav Jhala
Post-transplant lymphoproliferative disorders (PTLDs) are life-threatening complications of solid-organ transplantation and bone marrow transplantation leading to a high mortality. PTLD represents a heterogeneous group of lymphoproliferative diseases. They become clinically relevant because of the expansion of transplantation medicine together with the development of potent immunosuppressive drugs associated now with long survival. The risk of PTLD is highest in the early post-transplant period, but the cumulative risk increases with time...
December 2017: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/29327166/loneliness-in-psychosis-a-systematic-review
#19
REVIEW
Michelle H Lim, John F M Gleeson, Mario Alvarez-Jimenez, David L Penn
PURPOSE: The aim of the review is to understand the relationships between loneliness and related psychological and social factors in individuals with psychosis. Loneliness is poorly understood in people with psychosis. Given the myriad of social challenges facing individuals with psychosis, these findings can inform psychosocial interventions that specifically target loneliness in this vulnerable group. METHODS: We adhered to the PRISMA guidelines and systematically reviewed empirical studies that measured loneliness either as a main outcome or as an associated variable in individuals with psychosis...
January 11, 2018: Social Psychiatry and Psychiatric Epidemiology
https://www.readbyqxmd.com/read/29326851/recent-advancements-in-gene-therapy-for-hereditary-retinal-dystrophies
#20
REVIEW
Ayşe Öner
Hereditary retinal dystrophies (HRDs) are degenerative diseases of the retina which have marked clinical and genetic heterogeneity. Common presentations among these disorders include night or colour blindness, tunnel vision, and subsequent progression to complete blindness. The known causative disease genes have a variety of developmental and functional roles, with mutations in more than 120 genes shown to be responsible for the phenotypes. In addition, mutations within the same gene have been shown to cause different disease phenotypes, even amongst affected individuals within the same family, highlighting further levels of complexity...
December 2017: Turkish Journal of Ophthalmology
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