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Heterogeneous disorder

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https://www.readbyqxmd.com/read/28934560/creativity-and-mood-disorder-a-systematic-review-and-meta-analysis
#1
Christa L Taylor
Although the belief that creativity is related to psychopathology is prevalent, empirical evidence is limited. Research findings relating to mood disorder in particular are mixed, possibly as a result of differing research approaches (e.g., assessing the creativity of individuals with versus without mood disorder opposed to the prevalence of mood disorder in creative versus noncreative individuals). Therefore, a systematic review and meta-analysis were conducted to investigate prior research examining the link between mood disorder and creativity from three distinct research approaches...
September 1, 2017: Perspectives on Psychological Science: a Journal of the Association for Psychological Science
https://www.readbyqxmd.com/read/28934303/characterization-of-the-cpap-treated-patient-population-in-catalonia
#2
Cecilia Turino, Sandra Bertran, Ricard Gavaldá, Ivan Teixidó, Holger Woehrle, Montserrat Rué, Francesc Solsona, Joan Escarrabill, Cristina Colls, Anna García-Altés, Jordi de Batlle, Manuel Sánchez de-la-Torre, Ferran Barbé
There are different phenotypes of obstructive sleep apnoea (OSA), many of which have not been characterised. Identification of these different phenotypes is important in defining prognosis and guiding the therapeutic strategy. The aim of this study was to characterise the entire population of continuous positive airway pressure (CPAP)-treated patients in Catalonia and identify specific patient profiles using cluster analysis. A total of 72,217 CPAP-treated patients who contacted the Catalan Health System (CatSalut) during the years 2012 and 2013 were included...
2017: PloS One
https://www.readbyqxmd.com/read/28934247/the-extent-of-intrauterine-growth-restriction-determines-the-severity-of-cerebral-injury-and-neurobehavioural-deficits-in-rodents
#3
Crystal A Ruff, Stuart D Faulkner, Prakasham Rumajogee, Stephanie Beldick, Warren Foltz, Jennifer Corrigan, Alfred Basilious, Shangjun Jiang, Shanojan Thiyagalingam, Jerome Y Yager, Michael G Fehlings
BACKGROUND: Cerebral Palsy (CP) is the most common physical pediatric neurodevelopmental disorder and spastic diplegic injury is its most frequent subtype. CP results in substantial neuromotor and cognitive impairments that have significant socioeconomic impact. Despite this, its underlying pathophysiological mechanisms and etiology remain incompletely understood. Furthermore, there is a need for clinically relevant injury models, which a) reflect the heterogeneity of the condition and b) can be used to evaluate new translational therapies...
2017: PloS One
https://www.readbyqxmd.com/read/28934215/tracing-the-temporal-stability-of-autism-spectrum-diagnosis-and-severity-as-measured-by-the-autism-diagnostic-observation-schedule-a-systematic-review-and-meta-analysis
#4
Łucja Bieleninik, Maj-Britt Posserud, Monika Geretsegger, Grace Thompson, Cochavit Elefant, Christian Gold
BACKGROUND: Exploring ways to improve the trajectory and symptoms of autism spectrum disorder is prevalent in research, but less is known about the natural prognosis of autism spectrum disorder and course of symptoms. The objective of this study was to examine the temporal stability of autism spectrum disorder and autism diagnosis, and the longitudinal trajectories of autism core symptom severity. We furthermore sought to identify possible predictors for change. METHODS: We searched PubMed, PsycInfo, EMBASE, Web of Science, Cochrane Library up to October 2015 for prospective cohort studies addressing the autism spectrum disorder/autism diagnostic stability, and prospective studies of intervention effects...
2017: PloS One
https://www.readbyqxmd.com/read/28933411/mitochondrial-dysfunction-in-lysosomal-storage-disorders
#5
REVIEW
Mario de la Mata, David Cotán, Marina Villanueva-Paz, Isabel de Lavera, Mónica Álvarez-Córdoba, Raquel Luzón-Hidalgo, Juan M Suárez-Rivero, Gustavo Tiscornia, Manuel Oropesa-Ávila
Lysosomal storage diseases (LSDs) describe a heterogeneous group of rare inherited metabolic disorders that result from the absence or loss of function of lysosomal hydrolases or transporters, resulting in the progressive accumulation of undigested material in lysosomes. The accumulation of substances affects the function of lysosomes and other organelles, resulting in secondary alterations such as impairment of autophagy, mitochondrial dysfunction, inflammation and apoptosis. LSDs frequently involve the central nervous system (CNS), where neuronal dysfunction or loss results in progressive neurodegeneration and premature death...
October 11, 2016: Diseases (Basel)
https://www.readbyqxmd.com/read/28932379/testing-the-excitation-inhibition-imbalance-hypothesis-in-a-mouse-model-of-the-autism-spectrum-disorder-in-vivo-neurospectroscopy-and-molecular-evidence-for-regional-phenotypes
#6
Joana Gonçalves, Inês R Violante, José Sereno, Ricardo A Leitão, Ying Cai, Antero Abrunhosa, Ana Paula Silva, Alcino J Silva, Miguel Castelo-Branco
BACKGROUND: Excitation/inhibition (E/I) imbalance remains a widely discussed hypothesis in autism spectrum disorders (ASD). The presence of such an imbalance may potentially define a therapeutic target for the treatment of cognitive disabilities related to this pathology. Consequently, the study of monogenic disorders related to autism, such as neurofibromatosis type 1 (NF1), represents a promising approach to isolate mechanisms underlying ASD-related cognitive disabilities. However, the NF1 mouse model showed increased γ-aminobutyric acid (GABA) neurotransmission, whereas the human disease showed reduced cortical GABA levels...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28931939/survival-and-prognostic-factors-in-hypertrophic-cardiomyopathy-a-meta-analysis
#7
Qun Liu, Diandian Li, Alan E Berger, Roger A Johns, Li Gao
Hypertrophic cardiomyopathy (HCM) is a clinically and genetically heterogeneous disorder but data on survival rates are still conflicting and have not so far been quantitatively reviewed. The aim of this study is to conduct a meta-analysis of cohort studies to assess pooled survival rates and prognostic factors for survival in patients with HCM. Nineteen studies were included representing 12,146 HCM patients. The pooled 1-, 3-, 5- and 10-year survival rates were 98.0%, 94.3%, 82.2% and 75.0%, respectively. Among patients with HCM, age, NYHA functional class, family history of sudden death (FHSD), syncope, atrial fibrillation, non-sustained ventricular tachycardia (nsVT), maximum left ventricular wall thickness and obstruction were significant prognostic factors for cardiovascular death...
September 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28931914/high-resolution-analysis-of-rare-copy-number-variants-in-patients-with-autism-spectrum-disorder-from-taiwan
#8
Chia-Hsiang Chen, Hsin-I Chen, Wei-Hsien Chien, Ling-Hui Li, Yu-Yu Wu, Yen-Nan Chiu, Wen-Che Tsai, Susan Shur-Fen Gau
Rare genomic copy number variations (CNVs) (frequency <1%) contribute a part to the genetic underpinnings of autism spectrum disorders (ASD). The study aimed to understand the scope of rare CNV in Taiwanese patients with ASD. We conducted a genome-wide CNV screening of 335 ASD patients (299 males, 36 females) from Taiwan using Affymetrix Genome-Wide Human SNP Array 6.0 and compared the incidence of rare CNV with that of 1093 control subjects (525 males, 568 females). We found a significantly increased global burden of rare CNVs in the ASD group compared to the controls as a whole or when the rare CNVs were classified by the size and types of CNV...
September 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28930378/the-risk-of-metabolic-syndrome-in-polycystic-ovary-syndrome-a-systematic-review-and-meta-analysis
#9
REVIEW
Samira Behboudi-Gandevani, Mina Amiri, Raziyeh Bidhendi Yarandi, Mahsa Noroozzadeh, Maryam Farahmand, Marziyeh Rostami Dovom, Fahimeh Ramezani Tehrani
BACKGROUND AND OBJECTIVE: Polycystic ovary syndrome (PCOS) is a common heterogeneous endocrine disorder associated with metabolic syndrome (MetS). The aim of this systematic review and meta-analysis was to provide the most reliable estimate risk of MetS in women with PCOS, compared to healthy controls. METHODS: A comprehensive literature search was performed in PubMed [including Medline], Web of Science and Scopus databases for retrieving articles in English language on the prevalence/incidence and odds of MetS in women with PCOS compared to healthy controls...
September 20, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28930173/polyphenols-from-root-tubercles-and-grains-cropped-in-brazil-chemical-and-nutritional-characterization-and-their-effects-on-human-health-and-diseases
#10
REVIEW
Diego Dos Santos Baião, Cyntia Silva de Freitas, Laidson Paes Gomes, Davi da Silva, Anna Carolina N T F Correa, Patricia Ribeiro Pereira, Eduardo Mere Del Aguila, Vania Margaret Flosi Paschoalin
Throughout evolution, plants have developed the ability to produce secondary phenolic metabolites, which are important for their interactions with the environment, reproductive strategies and defense mechanisms. These (poly)phenolic compounds are a heterogeneous group of natural antioxidants found in vegetables, cereals and leguminous that exert beneficial and protective actions on human health, playing roles such as enzymatic reaction inhibitors and cofactors, toxic chemicals scavengers and biochemical reaction substrates, increasing the absorption of essential nutrients and selectively inhibiting deleterious intestinal bacteria...
September 20, 2017: Nutrients
https://www.readbyqxmd.com/read/28929992/mood-disorders-and-circulating-levels-of-inflammatory-markers-in-a-longitudinal-population-based-study
#11
J Glaus, R von Känel, A M Lasserre, M-P F Strippoli, C L Vandeleur, E Castelao, M Gholam-Rezaee, C Marangoni, E-Y N Wagner, P Marques-Vidal, G Waeber, P Vollenweider, M Preisig, K R Merikangas
BACKGROUND: There has been increasing evidence that chronic low-grade inflammation is associated with mood disorders. However, the findings have been inconsistent because of heterogeneity across studies and methodological limitations. Our aim is to prospectively evaluate the bi-directional associations between inflammatory markers including interleukin (IL)-6, tumor necrosis factor (TNF)-α and high sensitivity C-reactive protein (hsCRP) with mood disorders. METHODS: The sample consisted of 3118 participants (53...
September 20, 2017: Psychological Medicine
https://www.readbyqxmd.com/read/28929726/-factors-associated-to-medical-visits-comparison-among-italians-and-immigrants-resident-in-italy
#12
Anteo Di Napoli, Monica Perez, Alessandra Rossi, Daniele Spizzichino, Laura Iannucci, Lidia Gargiulo, Daniela Panaccione, Concetta Mirisola, Alessio Petrelli
OBJECTIVES: to evaluate the role of factors potentially associated with the use of medical visits by the immigrant population living in Italy, making a comparison with the Italian population. DESIGN: cross-sectional study based on the representative sample of the population residing in Italy considered in the Survey "Health and use of health services" conducted by the Italian National Institute of Statistics (Istat) in 2013. SETTING AND PARTICIPANTS: the study was conducted on a sample of citizens aged 18-64 years (72,476 individuals) representing a population of 37,290,440 residents in Italy (33...
May 2017: Epidemiologia e Prevenzione
https://www.readbyqxmd.com/read/28929646/-research-progress-in-mechanism-of-traditional-chinese-medicine-treatment-of-polycystic-ovary-syndrome
#13
REVIEW
Xian-Ying Zhou, Li Zhou, Zu-Yue Sun
Polycystic ovary syndrome (PCOS) is a heterogeneous endocrine disorder, which is characterized by hyperandrogenism, insulin resistance and chronic anovulation, and has become a serious threat to the health of adolescents and women of childbearing age.At present,lowering androgen, improving insulin resistance and inducing ovulation are the main methods adopted by doctors to treat the disease, but the adverse reactions of the western medicine and the long-term treatment are hard to be accepted by the patients...
October 2016: Zhongguo Zhong Yao za Zhi, Zhongguo Zhongyao Zazhi, China Journal of Chinese Materia Medica
https://www.readbyqxmd.com/read/28928972/screening-of-mutations-in-the-additional-sex-combs-like-1-transcriptional-regulator-tumor-protein-p53-and-kras-proto-oncogene-gtpase-nras-proto-oncogene-gtpase-genes-of-patients-with-myelodysplastic-syndrome
#14
Carolina Leite, Lucas Delmonico, Gilda Alves, Romario José Gomes, Mariana Rodrigues Martino, Aline Rodrigues da Silva, Aline Dos Santos Moreira, Maria Christina Maioli, Luciano Rios Scherrer, Elenice Ferreira Bastos, Roberto Irineu, Maria Helena Ornellas
Myelodysplastic syndrome (MDS) is a heterogeneous group of clonal bone marrow disorders characterized by ineffective hematopoiesis, different degrees of cellular dysplasia, and increased risk of progression to acute myeloid leukemia. International Prognostic Scoring System is the gold standard for MDS classification; however, patients exhibiting different clinical behaviors often coexist in the same group, indicating that the currently available scoring systems are insufficient. The genes that have recently been identified as mutated in MDS, including additional sex combs like 1, transcriptional regulator (ASXL1), tumor protein p53 (TP53), and KRAS proto-oncogene and GTPase (KRAS)/NRAS proto-oncogene, GTPase (NRAS), may contribute to a more comprehensive classification, as well as to the prognosis and progression of the disease...
October 2017: Biomedical Reports
https://www.readbyqxmd.com/read/28928962/current-concepts-and-controversies-in-the-pathogenesis-of-parkinson-s-disease-dementia-and-dementia-with-lewy-bodies
#15
REVIEW
Rimona S Weil, Tammaryn L Lashley, Jose Bras, Anette E Schrag, Jonathan M Schott
Parkinson's disease dementia (PDD) and dementia with Lewy bodies (DLB) are relentlessly progressive neurodegenerative disorders that are likely to represent two ends of a disease spectrum. It is well established that both are characterised pathologically by widespread cortical Lewy body deposition. However, until recently, the pathophysiological mechanisms leading to neuronal damage were not known. It was also not understood why some cells are particularly vulnerable in PDD/DLB, nor why some individuals show more aggressive and rapid dementia than others...
2017: F1000Research
https://www.readbyqxmd.com/read/28926706/structural-and-kinetic-characterization-of-the-intrinsically-disordered-protein-sev-ntail-through-enhanced-sampling-simulations
#16
Mattia Bernetti, Matteo Masetti, Fabio Pietrucci, Martin Blackledge, Malene Ringkjøbing Jensen, Maurizio Recanatini, Luca Mollica, Andrea Cavalli
Intrinsically disordered proteins (IDPs) are emerging as an important class of the proteome. Being able to interact with different molecular targets, they participate in many physiological and pathological activities. However, due to their intrinsically heterogeneous nature, determining the equilibrium properties of IDPs is still a challenge for biophysics. Herein, we applied state-of-the-art enhanced sampling methods to Sev NTAIL, a test case of IDPs, and constructed a bin-based kinetic model to unveil the underlying kinetics...
September 19, 2017: Journal of Physical Chemistry. B
https://www.readbyqxmd.com/read/28926334/family-phenotypic-heterogeneity-caused-by-mitochondrial-dna-mutation-a3243g
#17
Daniela Alves, Maria Eufémia Calmeiro, Carmo Macário, Rosa Silva
Maternally inherited diabetes and deafness is a rare form of diabetes caused by a mitochondrial DNA mutation. The index case is a 55-year-old woman who was admitted with hypertrophic cardiomyopathy. She had a history of diabetes mellitus and hearing loss. The patient's mother, two brothers and two sisters also had a history of diabetes and hearing loss. This pattern suggests a maternally inherited disorder. All siblings carried the A3243G mitochondrial DNA mutation. The identification of people with monogenic forms of diabetes mellitus is a diagnostic challenge...
August 31, 2017: Acta Médica Portuguesa
https://www.readbyqxmd.com/read/28925897/role-of-apoptosis-in-the-pathogenesis-of-common-variable-immunodeficiency-cvid
#18
Mazdak Ganjalikhani-Hakemi, Reza Yazdani, Mohammad Esmaeili, Hassan Abolhassani, Wiliam Rae, Gholamreza Azizi, Majid Zaki Dizaji, Mohammadreza Shaghaghi, Faezeh Abbasi-Rad, Abbas Rezaei, Sanaz Afshar-Qasemloo, Saeed Mohammadi, Nima Rezaei, Asghar Aghamohammadi
BACKGROUND: Common variable immunodeficiency (CVID) is a heterogeneous immune deficiency characterized by hypogammaglobulinemia. Since B cell maturation and differentiation is defective in this disorder, we evaluated apoptosis in B cells of patients with CVID compared with healthy donors (HD). METHODS: Determination of peripheral blood B-cell subsets in CVID and HDs, was performed using flow cytometry. We compared total apoptosis, early apoptosis and late apoptosis/necrosis in unstimulated and stimulated B-cells of patients with CVID and HDs...
September 19, 2017: Endocrine, Metabolic & Immune Disorders Drug Targets
https://www.readbyqxmd.com/read/28925523/bdnf-haplo-insufficiency-impairs-high-frequency-cortical-oscillations-in-mice
#19
Nigel C Jones, Matthew Hudson, Joshua Foreman, Gil Rind, Rachel Hill, Elizabeth E Manning, Maarten van den Buuse
Schizophrenia is a complex psychiatric disorder with a heterogeneous aetiology involving genetic and environmental factors. Deficiencies in both brain-derived neurotrophic factor (BDNF) and NMDA receptor function have been implicated in the disorder, and may play causal and synergistic roles. Perturbations in the regulation of electrophysiological signals, including high-frequency (gamma: 30-80 Hz and beta: 20-30 Hz) neuronal oscillations, are also associated with the disorder. This study investigated the influence of BDNF deficiency and NMDA receptor hypofunction on electrophysiological responses to brief acoustic stimuli...
September 19, 2017: European Journal of Neuroscience
https://www.readbyqxmd.com/read/28924106/intravenous-immunoglobulin-monotherapy-for-granulomatous-lymphocytic-interstitial-lung-disease-in-common-variable-immunodeficiency
#20
Mizue Hasegawa, Fumikazu Sakai, Asako Okabayashi, Akitoshi Sato, Naoko Yokohori, Hideki Katsura, Chihiro Asano, Toshiko Kamata, Eitetsu Koh, Yasuo Sekine, Kenzo Hiroshima, Takashi Ogura, Tamiko Takemura
Common variable immunodeficiency (CVID) is a heterogeneous subset of immunodeficiency disorders. Recurrent bacterial infection is the main feature of CVID, but various non-infectious complications can occur. A 42-year-old woman presented with cough and abnormal chest X-ray shadows. Laboratory tests showed remarkable hypogammaglobulinemia. Computed tomography revealed multiple consolidation and nodules on the bilateral lung fields, systemic lymphadenopathy, and splenomegaly. A surgical lung biopsy specimen provided the final diagnosis of lymphoproliferative disease in CVID, which was grouped under the term granulomatous lymphocytic interstitial lung disease...
September 15, 2017: Internal Medicine
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