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https://www.readbyqxmd.com/read/28535476/examination-of-polytrauma-typologies-a-latent-class-analysis-approach
#1
Erin Sullivan, Ateka A Contractor, Monica M Gerber, Craig Neumann
Potentially traumatizing events (PTE) are highly prevalent, and are associated with detrimental effects on psychological health, including increased risk of posttraumatic stress disorder (PTSD). Multiple endorsed PTEs (polytraumatization) may have even greater effects on a person's health than the impact of a single index event. To better understand patterns of polytraumatization, person-centered analytic techniques such as Latent class analysis (LCA) are recommended. The current study used LCA to explore latent subgroupings of people based on their endorsement of PTEs, thus defining patterns in PTE exposure...
May 17, 2017: Psychiatry Research
https://www.readbyqxmd.com/read/28534274/exploring-the-validity-of-proposed-transgenic-animal-models-of-attention-deficit-hyperactivity-disorder-adhd
#2
REVIEW
June Bryan de la Peña, Irene Joy Dela Peña, Raly James Custodio, Chrislean Jun Botanas, Hee Jin Kim, Jae Hoon Cheong
Attention-deficit/hyperactivity disorder (ADHD) is a common, behavioral, and heterogeneous neurodevelopmental condition characterized by hyperactivity, impulsivity, and inattention. Symptoms of this disorder are managed by treatment with methylphenidate, amphetamine, and/or atomoxetine. The cause of ADHD is unknown, but substantial evidence indicates that this disorder has a significant genetic component. Transgenic animals have become an essential tool in uncovering the genetic factors underlying ADHD. Although they cannot accurately reflect the human condition, they can provide insights into the disorder that cannot be obtained from human studies due to various limitations...
May 22, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28533818/a-novel-bcr-abl1-fusion-gene-with-genetic-heterogeneity-indicates-a-good-prognosis-in-a-chronic-myeloid-leukemia-case
#3
Fen Zhou, Runming Jin, Yu Hu, Heng Mei
BACKGROUND: Chronic myelogenous leukemia (CML) is a pluripotent hematopoietic stem cell disorder caused by the fusion of the BCR and ABL1 genes. Quantitative RT-PCR (qRT-PCR) is a routinely performed screening technique to identify BCR-ABL1 fusion genes, but a limitation of this method is its inability to recognize novel fusions that have not been previously characterized. Next-generation sequencing (NGS) is an effective and sensitive detection method for the determination of novel BCR-ABL1 fusion genes as well as previously characterized ones...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28533516/asd-restricted-and-repetitive-behaviors-associated-at-17q21-33-genes-prioritized-by-expression-in-fetal-brains
#4
R M Cantor, L Navarro, H Won, R L Walker, J K Lowe, D H Geschwind
Autism spectrum disorder (ASD) is a behaviorally defined condition that manifests in infancy or early childhood as deficits in communication skills and social interactions. Often, restricted and repetitive behaviors (RRBs) accompany this disorder. ASD is polygenic and genetically complex, so we hypothesized that focusing analyses on intermediate core component phenotypes, such as RRBs, can reduce genetic heterogeneity and improve statistical power. Applying this approach, we mined Caucasian genome-wide association studies (GWAS) data from two of the largest ASD family cohorts, the Autism Genetics Resource Exchange and Autism Genome Project (AGP)...
May 23, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28533336/a-coding-variant-in-the-gene-bardet-biedl-syndrome-4-bbs4-is-associated-with-a-novel-form-of-canine-progressive-retinal-atrophy
#5
Tracy Chew, Bianca Haase, Roslyn Bathgate, Cali E Willet, Maria K Kaukonen, Lisa J Mascord, Hannes T Lohi, Claire M Wade
Progressive retinal atrophy is a common cause of blindness in the dog and affects over 100 breeds. It is characterized by gradual vision loss that occurs due to the degeneration of photoreceptor cells in the retina. Similar to the human counterpart retinitis pigmentosa, the canine disorder is clinically and genetically heterogeneous and the underlying cause remains unknown for many cases. We use a positional candidate gene approach to identify putative variants in the Hungarian Puli breed using genotyping data of 14 family-based samples (CanineHD BeadChip array, Illumina) and whole genome sequencing data of two proband and two parental samples (Illumina HiSeq 2000)...
May 22, 2017: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/28532967/avoidant-restrictive-food-intake-disorder-arfid
#6
Jacqueline Zimmerman, Martin Fisher
Avoidant/restrictive food intake disorder (ARFID) is an entirely new diagnosis in the DSM-5. ARFID replaces "feeding disorder of infancy or early childhood," which was a diagnosis in the DSM-IV restricted to children 6 years of age or younger; ARFID has no such age limitations and it is distinct from anorexia nervosa and bulimia nervosa in that there is no body image disturbance. ARFID involves a complex and heterogenous etiology, which is reviewed herein. What is known to date regarding the characteristics and medical and psychiatric comorbidities of this patient population are described and compared to other eating disorders...
April 2017: Current Problems in Pediatric and Adolescent Health Care
https://www.readbyqxmd.com/read/28532920/endoscopic-endonasal-resection-of-a-mixedlesion-of-gangliocytoma-and-non-functioning-pituitary-adenoma
#7
Li-Jun Heng, Dong Jia, Li Gong, Wei Zhang, Jie Ma, Yan Qu
BACKGROUND: The coexistence of a gangliocytoma and a pituitary adenoma is a rare event, which has only been studied in case reports previously. The knowledge of its diagnosis and treatment is extremely limited. CASE DESCRIPTION: We present a rare case of intrasellar-suprasellar gangliocytoma and non-functioning pituitary adenoma. The lesion was preoperatively diagnosed as a pituitary adenoma and resected using the extended endoscopic endonasal approach. We could clearly observe two different textures inside the tumor...
May 19, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28532758/the-kelch-surprise-klhl24-%C3%A2-a%C3%A2-new%C3%A2-player-in-the-pathogenesis-of%C3%A2-skin-fragility
#8
Cristina Has
A new protein, kelch-like 24, has recently been associated with a distinct subtype of epidermolysis bullosa simplex, a heterogeneous group of disorders associated with mechanical fragility of epidermal keratinocytes. All mutations involve the translation initiation codon and lead to a degradation-resistant N-terminally truncated kelch-like 24. Kelch-like 24 appears to be involved in the turnover of intermediated filaments, in particular of keratin 14, in keratinocytes.
June 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28532233/updates-on-sj%C3%A3-gren-s-syndrome-from-proteomics-to-protein-biomarkers
#9
Chiara Baldini, Antonella Cecchettini, Alessia Gallo, Stefano Bombardieri
Primary Sjögren's syndrome (pSS) is a complex heterogeneous autoimmune disorder, typically affecting exocrine glands. Recently, a great interest has arisen in searching for novel biomarkers able to improve the diagnostic work-up of the disease as well as the general assessment and the prognostic stratification of pSS patients. From this perspective, salivary proteomics has appeared as a promising tool considering that salivary proteins may closely reflect the underlying disease processes in the salivary glands...
May 23, 2017: Expert Review of Proteomics
https://www.readbyqxmd.com/read/28531848/a-systematic-review-and-meta-regression-of-the-prevalence-and-incidence-of-perinatal-depression
#10
REVIEW
C A Woody, A J Ferrari, D J Siskind, H A Whiteford, M G Harris
BACKGROUND: Major Depressive Disorder (MDD) is a leading cause of the disease burden for women of childbearing age, but the burden of MDD attributable to perinatal depression is not yet known. There has been little effort to date to systematically review available literature and produce global estimates of prevalence and incidence of perinatal depression. Enhanced understanding will help to guide resource allocation for screening and treatment. METHODS: A systematic literature review using the databases PsycINFO and PubMED returned 140 usable prevalence estimates from 96 studies...
May 8, 2017: Journal of Affective Disorders
https://www.readbyqxmd.com/read/28531358/vitamin-b1-deficiency-in-patients-with-postural-tachycardia-syndrome-pots
#11
Svetlana Blitshteyn
OBJECTIVE: POTS is a heterogeneous disorder of the autonomic nervous system that can result from multiple etiologies. An increased prevalence of vitamin B12, vitamin D 25-OH and iron deficiencies has been observed in patients with POTS. This study examined the prevalence of vitamin B1 deficiency and assessed response to vitamin B1 supplementation in the deficient POTS patients. METHODS AND RESULTS: Medical records of 65 consecutive patients with POTS evaluated at our clinic were reviewed...
May 21, 2017: Neurological Research
https://www.readbyqxmd.com/read/28530345/-functional-somatic-syndromes-among-ethiopian-immigrants-in-israel
#12
Nimrod Grisaru, Danny Budowski, Seffefe Ayecheh, Eliezer Witztum
INTRODUCTION: The psychiatric classifications of disease (DSMIV; ICD-10) relate to a family of high incidence somatoform disorders whose use isn't uniform and cannot be measured. DSM-5 presents the term "cultural conceptualization of distress", which attempts to describe the cultural construct and its influences on mental distress and symptom presentation. Somatization among immigrants poses a diagnostic, treatment and research challenge due to cultural differences such as wrong understanding of their symptoms that may lead to misdiagnosis and to prescribing wrong and possibly harmful treatment and unnecessary hospitalization...
December 2016: Harefuah
https://www.readbyqxmd.com/read/28529360/twelve-month-prevalence-and-treatment-gap-for-common-mental-disorders-findings-from-a-large-scale-epidemiological-survey-in-india
#13
Rajesh Sagar, Raman Deep Pattanayak, R Chandrasekaran, Pranit K Chaudhury, Balbir S Deswal, R K Lenin Singh, Savita Malhotra, S Haque Nizamie, Bharat N Panchal, T P Sudhakar, J K Trivedi, Mathew Varghese, Jagdish Prasad, Somnath Chatterji
BACKGROUND: Common mental disorders, such as mood, anxiety, and substance use disorders, are significant contributors to disability globally, including India. Available research is, however, limited by methodological issues and heterogeneities. AIM: The present paper focuses on the 12-month prevalence and 12-month treatment for anxiety, mood, and substance use disorders in India. MATERIALS AND METHODS: As part of the World Health Organization World Mental Health (WMH) Survey Initiative, in India, the study was conducted at eleven sites...
January 2017: Indian Journal of Psychiatry
https://www.readbyqxmd.com/read/28529117/new-markers-for-adult-onset-still-s-disease
#14
Stéphane Mitrovic, Bruno Fautrel
Adult-onset Still's disease (AOSD) is a rare systemic auto-inflammatory disorder (SAID). Although the pathogenesis of the disease is complex and far from being fully understood, recent progresses in pathophysiological knowledge have paved the way to new diagnostic approaches. Indeed, AOSD diagnosis can be a real challenge, owing to its infrequency, and to the lack of specificity of the principal clinical features (high fever, arthralgia or arthritis, skin rash) and laboratory findings (elevated acute phase reactants, hyperleukocytosis ≥ 10,000 cells/mm(3) with neutrophils ≥80%)...
May 18, 2017: Joint, Bone, Spine: Revue du Rhumatisme
https://www.readbyqxmd.com/read/28527577/resistance-to-thyroid-hormone-due-to-heterozygous-mutations-in-thyroid-hormone-receptor-alpha
#15
Anja L M van Gucht, Carla Moran, Marcel E Meima, W Edward Visser, Krishna Chatterjee, Theo J Visser, Robin P Peeters
BACKGROUND: Thyroid hormone (TH) acts via nuclear thyroid hormone receptors (TRs). TR isoforms (TRα1, TRα2, TRβ1, TRβ2) are encoded by distinct genes (THRA and THRB) and show differing tissue distributions. Patients with mutations in THRB, exhibiting resistance within the hypothalamic-pituitary-thyroid axis with elevated TH and nonsuppressed thyroid-stimulating hormone (TSH) levels, were first described decades ago. In 2012, the first patients with mutations in THRA were identified...
2017: Current Topics in Developmental Biology
https://www.readbyqxmd.com/read/28527473/presence-of-new-mutations-in-the-tp53-gene-in-patients-with-low-risk-myelodysplastic-syndrome-two-case-reports
#16
Fernando Barroso Duarte, Romélia Pinheiro Gonçalves Lemes, Talyta Ellen de Jesus Dos Santos, Maritza Cavalcante Barbosa, João Paulo Leitão de Vasconcelos, Francisco Dário Rocha-Filho, Ilana Zalcberg, Diego Coutinho, Monalisa Feliciano Figueiredo, Luciana Barros Carlos, Paulo Roberto Leitão de Vasconcelos
BACKGROUND: Myelodysplastic syndromes are heterogeneous disorders. Patients with myelodysplastic syndrome disease often have ineffective hematopoiesis, cytopenias, blood cell dysplasia in one or more cell types, and are at high risk for developing acute myeloid leukemia. In myelodysplastic syndrome, mutations of TP53 gene are usually associated with complex karyotype and confer a worse prognosis. In the present study, two mutations in this gene are presented and discussed with the clinical evolution of the patients...
May 21, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28527175/chorea-and-orofaciolingual-dystonia-in-a-40-year-old-male
#17
Lulup Kumar Sahoo, Kali Prasanna Swain, Ashok Kumar Mallick, Geeta Mohanty, Maheswar Samanta, Srikanta Kumar Sahoo
Neuroacanthocytosis is a heterogeneous group of disorders which result in progressive neurodegeneration, predominantly of the basal ganglia, and erythrocyte acanthocytosis. We report a case of neuroacanthocytosis with typical phenotype of choreoacanthocytosis. A 40 year male presented with features of chorea with orofaciolingual dystonia producing eating and speech difficulties. There were features of self mutilation in form of lip and tongue biting. Peripheral blood smear examination revealed acanthocytes in our patient...
April 2017: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/28524722/lesch-nyhan-disease-in-two-families-from-chilo%C3%A3-island-with-mutations-in-the-hprt1-gene
#18
Khue Vu Nguyen, Sebastian Silva, Monica Troncoso, Robert K Naviaux, William L Nyhan
Lesch-Nyhan disease (LND) is a rare X-linked inherited neurogenetic disorder of purine metabolism in which the enzyme, hypoxanthine-guanine phosphoribosyltransferase (HGprt) is defective. The authors report two independent point mutations leading to splicing errors: IVS 2 +1G>A, c.134 +1G>A, and IVS 3 +1G>A, c.318 +1G>A in the hypoxanthine-phosphoribosyltransferase1 (HPRT1) gene which result in exclusion of exon 2 and exon 3 respectively, in the HGprt enzyme protein from different members of two Chiloé Island families...
May 19, 2017: Nucleosides, Nucleotides & Nucleic Acids
https://www.readbyqxmd.com/read/28523977/the-application-of-deep-brain-stimulation-in-the-treatment-of-psychiatric-disorders
#19
Ilse Graat, Martijn Figee, Damiaan Denys
Deep brain stimulation (DBS) is a last-resort treatment for neurological and psychiatric disorders that are refractory to standard treatment. Over the last decades, the progress of DBS in psychiatry has been slower than in neurology, in part owing to the heterogenic symptomatology and complex neuroanatomy of psychiatric disorders. However, for obsessive-compulsive disorder (OCD) DBS is now an accepted treatment. This study first reviews clinical outcomes and mechanisms of DBS for OCD, and then discusses these results in an overview of current and future psychiatric applications, including DBS for mood disorders, Tourette's syndrome, addiction, anorexia nervosa, autism, schizophrenia, and anxiety disorders...
April 2017: International Review of Psychiatry
https://www.readbyqxmd.com/read/28523541/epigenetics-of-autism-spectrum-disorder
#20
Michelle T Siu, Rosanna Weksberg
Autism spectrum disorder (ASD), one of the most common childhood neurodevelopmental disorders (NDDs), is diagnosed in 1 of every 68 children. ASD is incredibly heterogeneous both clinically and aetiologically. The etiopathogenesis of ASD is known to be complex, including genetic, environmental and epigenetic factors. Normal epigenetic marks modifiable by both genetics and environmental exposures can result in epigenetic alterations that disrupt the regulation of gene expression, negatively impacting biological pathways important for brain development...
2017: Advances in Experimental Medicine and Biology
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