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https://www.readbyqxmd.com/read/28812650/autosomal-recessive-cone-rod-dystrophy-can-be-caused-by-mutations-in-the-atf6-gene
#1
Anna Skorczyk-Werner, Wei-Chieh Chiang, Anna Wawrocka, Katarzyna Wicher, Małgorzata Jarmuż-Szymczak, Magdalena Kostrzewska-Poczekaj, Aleksander Jamsheer, Rafał Płoski, Małgorzata Rydzanicz, Dorota Pojda-Wilczek, Nicole Weisschuh, Bernd Wissinger, Susanne Kohl, Jonathan H Lin, Maciej R Krawczyński
Inherited retinal dystrophies (IRDs) are clinically and genetically highly heterogeneous, making clinical diagnosis difficult. The advances in high-throughput sequencing (ie, panel, exome and genome sequencing) have proven highly effective on defining the molecular basis of these disorders by identifying the underlying variants in the respective gene. Here we report two siblings affected by an IRD phenotype and a novel homozygous c.1691A>G (p.(Asp564Gly)) ATF6 (activating transcription factor 6A) missense substitution identified by whole exome sequencing analysis...
August 16, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28812287/racial-discrimination-and-mental-health-in-the-usa-testing-the-reverse-racism-hypothesis
#2
Bongki Woo
OBJECTIVE: The present study examined whether the health disadvantages consequent of racial discrimination experienced by four racial/ethnic minority groups are equivalent with that of the dominant racial group. METHOD: Data was derived from the 2013 National Epidemiologic Survey on Alcohol and Related Conditions. Logistic regression and heterogeneous choice models were used to test the moderating role of race/ethnicity in regards to the associations between racial discrimination and ten DSM-V diagnoses...
August 15, 2017: Journal of Racial and Ethnic Health Disparities
https://www.readbyqxmd.com/read/28812273/a-precision-medicine-approach-to-oxytocin%C3%A2-trials
#3
Elissar Andari, Rene Hurlemann, Larry J Young
In this chapter, we introduce a new area of social pharmacology that encompasses the study of the role of neuromodulators in modulating a wide range of social behaviors and brain function, with the interplay of genetic and epigenetic factors. There are increasing evidences for the role of the neuropeptide oxytocin in modulating a wide range of social behaviors, in reducing anxiety, and in impacting the social brain network. Oxytocin also promotes social functions in patients with neuropsychiatric disorders, such as autism and reduces anxiety and fear in anxiety disorders...
August 16, 2017: Current Topics in Behavioral Neurosciences
https://www.readbyqxmd.com/read/28812272/oxytocin-and-borderline-personality-disorder
#4
Katja Bertsch, Sabine C Herpertz
Borderline personality disorder (BPD) is a prevalent and severe mental disorder with affect dysregulation, impulsivity, and interpersonal dysfunction as its core features. Up to now, six studies have been performed to investigate the role of oxytocin in the pathogenesis of BPD. While a beneficial effect of oxytocin on threat processing and stress responsiveness was found, other studies using an oxytocin challenge design presented with rather heterogeneous results. Future studies have to include a sufficiently large sample of patients, control for gender, and focus on mechanisms known to be related to aversive early life experiences...
August 16, 2017: Current Topics in Behavioral Neurosciences
https://www.readbyqxmd.com/read/28811938/neuropsychological-characteristics-of-children-with-mixed-autism-and-adhd
#5
Costanza Colombi, Mohammad Ghaziuddin
Clinical heterogeneity is a well-established characteristic of autism spectrum disorder (ASD). While the comorbidity of ASD and ADHD is well known in clinical practice, relatively little research has examined the neuropsychological profile of children with ASD + ADHD. Our study showed significant differences in the neuropsychological characteristics of children with ASD + ADHD compared to those with ASD only. Children with ASD + ADHD showed higher symptoms of anxiety, worse working memory, and less empathy, as measured by the "Reading the Mind in the Eyes...
2017: Autism Research and Treatment
https://www.readbyqxmd.com/read/28810518/ameliorative-effects-of-artemisia-pallens-in-a-murine-model-of-ovalbumin-induced-allergic-asthma-via-modulation-of-biochemical-perturbations
#6
Anwesha A Mukherjee, Amit D Kandhare, Supada R Rojatkar, Subhash L Bodhankar
INTRODUCTION: Asthma is a chronic, heterogeneous airway disorder characterized by airway inflammatory and remodeling. Artemisia pallens has been reported to possess antioxidant, anti-inflammatory and Anti-allergic potential. OBJECTIVE: To evaluate the anti-asthmatic effects of methanolic extract of Artemisia pallens (APME) against ovalbumin (OVA)-induced airway hyperresponsiveness (AHR) in rats. MATERIALS AND METHOD: AHR was induced in male Sprague-Dawley rats (180-200g) by intraperitoneal (i...
August 10, 2017: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/28809927/in-middle-aged-and-old-obese-patients-training-intervention-reduces-leptin-level-a-meta-analysis
#7
Ildikó Rostás, László Pótó, Péter Mátrai, Péter Hegyi, Judit Tenk, András Garami, Anita Illés, Margit Solymár, Erika Pétervári, Ákos Szűcs, Andrea Párniczky, Dániel Pécsi, Zoltán Rumbus, Csaba Zsiborás, Nóra Füredi, Márta Balaskó
BACKGROUND: Leptin is one of the major adipokines in obesity that indicates the severity of fat accumulation. It is also an important etiological factor of consequent cardiometabolic and autoimmune disorders. Aging has been demonstrated to aggravate obesity and to induce leptin resistance and hyperleptinemia. Hyperleptinemia, on the other hand, may promote the development of age-related abnormalities. While major weight loss has been demonstrated to ameliorate hyperleptinemia, obese people show a poor tendency to achieve lasting success in this field...
2017: PloS One
https://www.readbyqxmd.com/read/28809859/do-regional-brain-volumes-and-major-depressive-disorder-share-genetic-architecture-a-study-of-generation-scotland-n-19%C3%A2-762-uk-biobank-n-24%C3%A2-048-and-the-english-longitudinal-study-of-ageing-n-5766
#8
E M Wigmore, T-K Clarke, D M Howard, M J Adams, L S Hall, Y Zeng, J Gibson, G Davies, A M Fernandez-Pujals, P A Thomson, C Hayward, B H Smith, L J Hocking, S Padmanabhan, I J Deary, D J Porteous, K K Nicodemus, A M McIntosh
Major depressive disorder (MDD) is a heritable and highly debilitating condition. It is commonly associated with subcortical volumetric abnormalities, the most replicated of these being reduced hippocampal volume. Using the most recent published data from Enhancing Neuroimaging Genetics through Meta-analysis (ENIGMA) consortium's genome-wide association study of regional brain volume, we sought to test whether there is shared genetic architecture between seven subcortical brain volumes and intracranial volume (ICV) and MDD...
August 15, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28809852/the-snp-set-based-association-study-identifies-itga1-as-a-susceptibility-gene-of-attention-deficit-hyperactivity-disorder-in-han-chinese
#9
L Liu, L Zhang, H M Li, Z R Wang, X F Xie, J P Mei, J L Jin, J Shi, L Sun, S C Li, Y L Tan, L Yang, J Wang, H M Yang, Q J Qian, Y F Wang
Genome-wide association studies, which detect the association between single-nucleotide polymorphisms (SNPs) and disease susceptibility, have been extensively applied to study attention-deficit/hyperactivity disorder (ADHD), but genome-wide significant associations have not been found yet. Genetic heterogeneity and insufficient genomic coverage may account for the missing heritability. We performed a two-stage association study for ADHD in the Han Chinese population. In the discovery stage, 1033 ADHD patients and 950 healthy controls were genotyped using both the Affymetrix Genome-Wide Human SNP Array 6...
August 15, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28809446/deferasirox-for-managing-iron-overload-in-people-with-thalassaemia
#10
REVIEW
Claudia Bollig, Lisa K Schell, Gerta Rücker, Roman Allert, Edith Motschall, Charlotte M Niemeyer, Dirk Bassler, Joerg J Meerpohl
BACKGROUND: Thalassaemia is a hereditary anaemia due to ineffective erythropoiesis. In particular, people with thalassaemia major develop secondary iron overload resulting from regular red blood cell transfusions. Iron chelation therapy is needed to prevent long-term complications.Both deferoxamine and deferiprone are effective; however, a review of the effectiveness and safety of the newer oral chelator deferasirox in people with thalassaemia is needed. OBJECTIVES: To assess the effectiveness and safety of oral deferasirox in people with thalassaemia and iron overload...
August 15, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28808513/lance-adams-syndrome-associated-with-cerebellar-pathology
#11
Adam Waddell, Ahmed Dirweesh, Fausto Ordonez, Charles Kososky, Leema Reddy Peddareddygari, Raji P Grewal
Lance-Adams syndrome (LAS) is an uncommon neurological disorder characterized by the development of chronic post-hypoxic myoclonus. There are relatively few cases described following successful cardiopulmonary resuscitation. We report a patient who developed LAS 3 months after successful resuscitation. Cerebral imaging studies indicate that brain pathology in LAS patients is not uniform, suggesting that the pathophysiology of myoclonus may vary from patient to patient. Our patient adds to this etiological heterogeneity by demonstrating the unusual feature of cerebellar pathology by both cerebral magnetic resonance imaging and single-photon emission computed tomography scans...
July 2017: Journal of Community Hospital Internal Medicine Perspectives
https://www.readbyqxmd.com/read/28808027/de-novo-mutations-in-inhibitors-of-wnt-bmp-and-ras-erk-signaling-pathways-in-non-syndromic-midline-craniosynostosis
#12
Andrew T Timberlake, Charuta G Furey, Jungmin Choi, Carol Nelson-Williams, Erin Loring, Amy Galm, Kristopher T Kahle, Derek M Steinbacher, Dawid Larysz, John A Persing, Richard P Lifton
Non-syndromic craniosynostosis (NSC) is a frequent congenital malformation in which one or more cranial sutures fuse prematurely. Mutations causing rare syndromic craniosynostoses in humans and engineered mouse models commonly increase signaling of the Wnt, bone morphogenetic protein (BMP), or Ras/ERK pathways, converging on shared nuclear targets that promote bone formation. In contrast, the genetics of NSC is largely unexplored. More than 95% of NSC is sporadic, suggesting a role for de novo mutations. Exome sequencing of 291 parent-offspring trios with midline NSC revealed 15 probands with heterozygous damaging de novo mutations in 12 negative regulators of Wnt, BMP, and Ras/ERK signaling (10...
August 14, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28807671/selective-inhibition-of-extra-synaptic-%C3%AE-5-gabaa-receptors-by-s44819-a-new-therapeutic-agent
#13
Lori-An Etherington, Balázs Mihalik, Adrienn Pálvölgyi, István Ling, Katalin Pallagi, Szabolcs Kertész, Péter Varga, Ben G Gunn, Adam R Brown, Matthew R Livesey, Olivia Monteiro, Delia Belelli, József Barkóczy, Michael Spedding, István Gacsályi, Ferenc A Antoni, Jeremy J Lambert
In the mammalian central nervous system (CNS) GABAA receptors (GABAARs) mediate neuronal inhibition and are important therapeutic targets. GABAARs are composed of 5 subunits, drawn from 19 proteins, underpinning expression of 20-30 GABAAR subtypes. In the CNS these isoforms are heterogeneously expressed and exhibit distinct physiological and pharmacological properties. We report the discovery of S44819, a novel tricyclic oxazolo-2,3-benzodiazepine-derivative, that selectively inhibits α5-subunit-containing GABAARs (α5-GABAARs)...
August 11, 2017: Neuropharmacology
https://www.readbyqxmd.com/read/28807491/adenosine-a2a-receptor-signaling-affects-il-21-il-22-cytokines-and-gata3-t-bet-transcription-factor-expression-in-cd4-t-cells-from-a-btbr-t-itpr3tf-j-mouse-model-of-autism
#14
Sheikh F Ahmad, Mushtaq A Ansari, Ahmed Nadeem, Saleh A Bakheet, Mashal M Almutairi, Sabry M Attia
Autism is a complex heterogeneous neurodevelopmental disorder; previous studies have identified altered immune responses among individuals diagnosed with autism. An imbalance in the production of pro- and anti-inflammatory cytokines and transcription factors plays a role in neurodevelopmental behavioral and autism disorders. BTBR T(+) Itpr3tf/J (BTBR) mice are used as a model for autism, as they exhibit social deficits, communication deficits, and repetitive behaviors compared with C57BL/6J (B6) mice. The adenosine A2A receptor (A2AR) appears to be a potential target for the improvement of behavioral, inflammatory, immune, and neurological disorders...
August 9, 2017: Journal of Neuroimmunology
https://www.readbyqxmd.com/read/28807143/lifestyle-interventions-for-weight-loss-among-overweight-and-obese-adults-with-serious-mental-illness-a-systematic-review-and-meta-analysis
#15
REVIEW
John A Naslund, Karen L Whiteman, Gregory J McHugo, Kelly A Aschbrenner, Lisa A Marsch, Stephen J Bartels
OBJECTIVE: To conduct a systematic review and meta-analysis to estimate effects of lifestyle intervention participation on weight reduction among overweight and obese adults with serious mental illness. METHOD: We systematically searched electronic databases for randomized controlled trials comparing lifestyle interventions with other interventions or usual care controls in overweight and obese adults with serious mental illness, including schizophrenia spectrum or mood disorders...
July 2017: General Hospital Psychiatry
https://www.readbyqxmd.com/read/28807008/phenotypic-and-molecular-characterisation-of-cdk13-related-congenital-heart-defects-dysmorphic-facial-features-and-intellectual-developmental-disorders
#16
Bret L Bostwick, Scott McLean, Jennifer E Posey, Haley E Streff, Karen W Gripp, Alyssa Blesson, Nina Powell-Hamilton, Jessica Tusi, David A Stevenson, Ellyn Farrelly, Louanne Hudgins, Yaping Yang, Fan Xia, Xia Wang, Pengfei Liu, Magdalena Walkiewicz, Marianne McGuire, Dorothy K Grange, Marisa V Andrews, Marybeth Hummel, Suneeta Madan-Khetarpal, Elena Infante, Zeynep Coban-Akdemir, Karol Miszalski-Jamka, John L Jefferies, Jill A Rosenfeld, Lisa Emrick, Kimberly M Nugent, James R Lupski, John W Belmont, Brendan Lee, Seema R Lalani
BACKGROUND: De novo missense variants in CDK13 have been described as the cause of syndromic congenital heart defects in seven individuals ascertained from a large congenital cardiovascular malformations cohort. We aimed to further define the phenotypic and molecular spectrum of this newly described disorder. METHODS: To minimise ascertainment bias, we recruited nine additional individuals with CDK13 pathogenic variants from clinical and research exome laboratory sequencing cohorts...
August 14, 2017: Genome Medicine
https://www.readbyqxmd.com/read/28806407/low-fermentable-oligosaccharides-disaccharides-monosaccharides-and-polyols-fodmap-diet-improves-symptoms-in-adults-suffering-from-irritable-bowel-syndrome-ibs-compared-to-standard-ibs-diet-a-meta-analysis-of-clinical-studies
#17
Péter Varjú, Nelli Farkas, Péter Hegyi, András Garami, Imre Szabó, Anita Illés, Margit Solymár, Áron Vincze, Márta Balaskó, Gabriella Pár, Judit Bajor, Ákos Szűcs, Orsolya Huszár, Dániel Pécsi, József Czimmer
BACKGROUND: Irritable bowel syndrome (IBS) and functional digestive tract disorders, e.g. functional bloating, carbohydrate maldigestion and intolerances, are very common disorders frequently causing significant symptoms that challenge health care systems. A low Fermentable Oligosaccharides, Disaccharides, Monosaccharides and Polyols (FODMAP) diet is one of the possible therapeutic approaches for decreasing abdominal symptoms and improving quality of life. OBJECTIVES: We aimed to meta-analyze data on the therapeutic effect of a low-FODMAP diet on symptoms of IBS and quality of life and compare its effectiveness to a regular, standard IBS diet with high FODMAP content, using a common scoring system, the IBS Symptom Severity Score (IBS-SSS)...
2017: PloS One
https://www.readbyqxmd.com/read/28805572/personalized-medicine-and-nonmotor-symptoms-in-parkinson-s-disease
#18
Nataliya Titova, K Ray Chaudhuri
Parkinson's disease (PD) is a multineurotransmitter dysfunction related disorder resulting in a range of motor and nonmotor symptoms. Phenotypic heterogeneity is pronounced in PD and nonmotor symptoms dominant subtypes have been described. These endophenotypes may be underpinned by considerable nondopaminergic dysfunction; however, conventional treatment of PD continues to be mostly reliant on dopamine replacement strategy or manipulation of brain dopaminergic pathways. Consequently, treatment of many nondopaminergic nonmotor and some motor symptoms remains a key unmet need...
2017: International Review of Neurobiology
https://www.readbyqxmd.com/read/28805571/palliative-care-and-nonmotor-symptoms-in-parkinson-s-disease-and-parkinsonism
#19
Nataliya Titova, K Ray Chaudhuri
The term palliative care (PC) is defined as a collection of interventions and strategies that helps to improve and sustain the quality of life of patients and caregivers in situations and scenarios associated with life-threatening illness. This is usually implemented by means of early identification and treatment of relevant motor and nonmotor issues such as pain, sleep, and autonomic dysfunction, dementia, and depression. In addition, a holistic PC program also includes delivery of physical, psychosocial, and spiritual support...
2017: International Review of Neurobiology
https://www.readbyqxmd.com/read/28803783/impact-of-mutations-within-the-fe-s-cluster-or-the-lipoic-acid-biosynthesis-pathways-on-mitochondrial-protein-expression-profiles-in-fibroblasts-from-patients
#20
E Lebigot, P Gaignard, I Dorboz, A Slama, M Rio, P de Lonlay, B Héron, F Sabourdy, O Boespflug-Tanguy, A Cardoso, F Habarou, C Ottolenghi, P Thérond, C Bouton, M P Golinelli-Cohen, A Boutron
Lipoic acid (LA) is the cofactor of the E2 subunit of mitochondrial ketoacid dehydrogenases and plays a major role in oxidative decarboxylation. De novo LA biosynthesis is dependent on LIAS activity together with LIPT1 and LIPT2. LIAS is an iron‑sulfur (Fe-S) cluster-containing mitochondrial protein, like mitochondrial aconitase (mt-aco) and some subunits of respiratory chain (RC) complexes I, II and III. All of them harbor at least one [Fe-S] cluster and their activity is dependent on the mitochondrial [Fe-S] cluster (ISC) assembly machinery...
August 3, 2017: Molecular Genetics and Metabolism
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