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https://www.readbyqxmd.com/read/28445692/perspectives-on-testicular-sex-cord-stromal-tumors-and-those-composed-of-both-germ-cells-and-sex-cord-stromal-derivatives-with-a-comparison-to-corresponding-ovarian-neoplasms
#1
Lawrence M Roth, Bingjian Lyu, Liang Cheng
Sex cord-stromal tumors (SCSTs) are the second most frequent category of testicular neoplasms, accounting for approximately 2-5% of cases. Both genetic and epigenetic factors account for the differences in frequency and histologic composition between testicular and ovarian SCSTs. For example, large cell calcifying Sertoli cell tumor and intratubular large cell hyalinizing Sertoli cell neoplasia occur in the testis but have not been described in the ovary. In this article, we discuss recently described diagnostic entities as well as inconsistencies in nomenclature used in the recent World Health Organization classifications of SCSTs in the testis and ovary...
April 23, 2017: Human Pathology
https://www.readbyqxmd.com/read/28445689/clinical-staging-and-serum-cytokines-in-bipolar-patients-during-euthymia
#2
Amparo Tatay-Manteiga, Vicent Balanzá-Martínez, Giovana Bristot, Rafael Tabarés-Seisdedos, Flavio Kapczinski, Omar Cauli
AIMS: Changes in serum cytokines and altered neutrophin concentration have been associated with bipolar disorder (BD). Our aim here was to analyze peripheral blood biomarkers according to the clinical stages of BD. METHOD: Euthymic BD-I patients were grouped according to their level of functioning in early-stage (n=25) and late-stage (n=23), and compared to healthy siblings (n=23) and genetically unrelated healthy controls (n=21). Neurotrophin (neurotrophin-3 and BDNF) concentration and biomarkers of inflammation, including cytokines (IL-6, IL-10 and TNF-α), leukocytes countand acute phase proteins, were measured...
April 23, 2017: Progress in Neuro-psychopharmacology & Biological Psychiatry
https://www.readbyqxmd.com/read/28445615/status-epilepticus-in-dogs-and-cats-part-1-etiopathogenesis-epidemiology-and-diagnosis
#3
Susan Blades Golubovic, John H Rossmeisl
OBJECTIVE: To review current knowledge of the etiopathogenesis, diagnosis, and consequences of status epilepticus (SE) in veterinary patients. DATA SOURCES: Human and veterinary literature, including clinical and laboratory research and reviews. ETIOPATHOGENESIS: Status epilepticus is a common emergency in dogs and cats, and may be the first manifestation of a seizure disorder. It results from the failure of termination of an isolated seizure...
April 26, 2017: Journal of Veterinary Emergency and Critical Care
https://www.readbyqxmd.com/read/28445399/advances-in-psychiatric-diagnosis-past-present-and-future
#4
EDITORIAL
Carol S North, Alina M Surís
This editorial examines controversies identified by the articles in this special issue, which explore psychopathology in the broad history of the classification of selected psychiatric disorders and syndromes over time through current American criteria. Psychiatric diagnosis has a long history of scientific investigation and application, with periods of rapid change, instability, and heated controversy associated with it. The articles in this issue examine the history of psychiatric nomenclature and explore current and future directions in psychiatric diagnosis through the various versions of accepted diagnostic criteria and accompanying research literature addressing the criteria...
April 26, 2017: Behavioral Sciences
https://www.readbyqxmd.com/read/28444691/maldi-ms-profiling-of-serum-o-and-n-glycosylation-in-cog5-cdg
#5
Angelo Palmigiano, Rosaria Ornella Bua, Rita Barone, Daisy Rymen, Luc Régal, Nicolas Deconinck, Carlo Dionisi-Vici, Cheuk-Wing Fung, Domenico Garozzo, Jaak Jaeken, Luisa Sturiale
Congenital disorders of glycosylation (CDG) are due to defective glycosylation of glycoconjugates. COG-CDG are genetic diseases due to defects of the conserved oligomeric Golgi (COG) complex subunits 1-8 causing N- and O-glycan processing abnormalities. In COG-CDG, IEF separation of undersialylated glycoforms of serum transferrin and apolipoprotein C-III (apoC-III) allows to detect N- and O-glycosylation defects respectively. COG5-CDG (COG5 subunit deficiency) is a multisystem disease with dysmorphic features, intellectual disability of variable degree, seizures, acquired microcephaly, sensory defects and autistic behavior...
April 25, 2017: Journal of Mass Spectrometry: JMS
https://www.readbyqxmd.com/read/28444225/genetic-influence-on-the-sulcal-pits-on-the-origin-of-the-first-cortical-folds
#6
Yann Le Guen, Guillaume Auzias, François Leroy, Marion Noulhiane, Ghislaine Dehaene-Lambertz, Edouard Duchesnay, Jean-François Mangin, Olivier Coulon, Vincent Frouin
The influence of genes on cortical structures has been assessed through various phenotypes. The sulcal pits, which are the putative first cortical folds, have for long been assumed to be under tight genetic control, but this was never quantified. We estimated the pit depth heritability in various brain regions using the high quality and large sample size of the Human Connectome Project pedigree cohort. Analysis of additive genetic variance indicated that their heritability ranges between 0.2 and 0.5 and displays a regional genetic control with an overall symmetric pattern between hemispheres...
April 21, 2017: Cerebral Cortex
https://www.readbyqxmd.com/read/28444119/spatial-variability-in-adhd-related-behaviors-among-children-born-to-mothers-residing-near-the-new-bedford-harbor-superfund-site
#7
Verónica M Vieira, M Patricia Fabian, Thomas F Webster, Jonathan I Levy, Susan A Korrick
Attention-deficit/hyperactivity disorder (ADHD) has an uncertain etiology, with potential contributions from different risk factors such as prenatal environmental exposure to organochlorines and metals, social risk factors, and genetics. The degree to which geographic variability in ADHD is independent of, or explained by, risk factors may provide etiological insight. We investigated determinants of geographic variation in ADHD-related behaviors among children living near the polychlorinated biphenyl-contaminated New Bedford Harbor (NBH) Superfund site in Massachusetts...
April 24, 2017: American Journal of Epidemiology
https://www.readbyqxmd.com/read/28443701/evaluation-of-dietary-intake-leisure-time-physical-activity-and-metabolic-profile-in-women-with-mutation-in-the-lmna-gene
#8
Luciana Monteiro, Maria Cristina Foss-Freitas, Anderson Navarro, Francisco Pereira, Fernanda Coeli, Estela Carneseca, Renan Montenegro Júnior, Milton Foss
INTRODUCTION: Familial partial lipodystrophy (FPL) is a rare genetic disorder characterized by selective lack of subcutaneous fat, which is associated with insulin-resistant diabetes. The Dunnigan variety (FPLD2) is caused by several missense mutations in the lamin A/C (LMNA) gene, most of which are typically located in exon 8 at the codon position 482. OBJECTIVE: The aim of this study was to assess and compare the dietary intake, leisure-time physical activity (LTPA), and biochemical measurements (glucose, A1C, and plasma lipids) in women with FPLD2 and without (control group, CG) and to examine the associations between dietary intake and biochemical measurements (BM)...
April 26, 2017: Journal of the American College of Nutrition
https://www.readbyqxmd.com/read/28443631/a-peripheral-epigenetic-signature-of-immune-system-genes-is-linked-to-neocortical-thickness-and-memory
#9
Virginie Freytag, Tania Carrillo-Roa, Annette Milnik, Philipp G Sämann, Vanja Vukojevic, David Coynel, Philippe Demougin, Tobias Egli, Leo Gschwind, Frank Jessen, Eva Loos, Wolfgang Maier, Steffi G Riedel-Heller, Martin Scherer, Christian Vogler, Michael Wagner, Elisabeth B Binder, Dominique J-F de Quervain, Andreas Papassotiropoulos
Increasing age is tightly linked to decreased thickness of the human neocortex. The biological mechanisms that mediate this effect are hitherto unknown. The DNA methylome, as part of the epigenome, contributes significantly to age-related phenotypic changes. Here, we identify an epigenetic signature that is associated with cortical thickness (P=3.86 × 10(-8)) and memory performance in 533 healthy young adults. The epigenetic effect on cortical thickness was replicated in a sample comprising 596 participants with major depressive disorder and healthy controls...
April 26, 2017: Nature Communications
https://www.readbyqxmd.com/read/28443481/impact-of-abnormal-dna-methylation-of-imprinted-loci-on-human-spontaneous-abortion
#10
Yudong Liu, Yan Tang, Desheng Ye, Weixu Ma, Shuxian Feng, Xuelan Li, Xingyu Zhou, Xin Chen, Shiling Chen
Currently, there is a growing concern regarding the safety of assisted reproductive technology (ART) due to increased risk of spontaneous abortion (SA) and imprinting disorders in ART-conceived offspring. Early investigations suggested that aberrant genetic imprinting may be related to pregnancy loss; however, few studies have used human tissue specimens. Here the DNA methylation patterns of 3 imprinted genes, including maternally inherited GRB10 and the paternally inherited IGF2 and PEG3 genes, were evaluated in human chorionic villus samples by pyrosequencing and bisulfite sequencing polymerase chain reaction...
January 1, 2017: Reproductive Sciences
https://www.readbyqxmd.com/read/28443271/refractory-urinary-incontinence-in-girls-the-role-of-the-bladder-neck
#11
Rafal Chrzan
BACKGROUND: Prevalence of lower urinary tract dysfunction (LUTD) in children is between 6 and 9% with urinary incontinence (UI) being one of the most common symptom. VARIOUS ASPECTS OF LOWER URINARY TRACT SYMPTOMS LUTS: Anatomical anomalies of the urinary tract as well as neurogenic underlying pathology can results in LUTS. Comorbidities and long-term consequences of the LUTD for the female patients as well as genetic issues are also briefly discussed. THE ROLE OF THE BLADDER NECK: Thanks to urodynamics, we have learnt a lot about the lower urinary tract function, but the role of the bladder neck in the pathophysiology of LUTS in children is not clear...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28442912/tumor-necrosis-factor-%C3%AE-and-%C3%AE-genetic-polymorphisms-as-a-risk-factor-in-saudi-patients-with-schizophrenia
#12
Saeed Kadasah, Misbahul Arfin, Sadaf Rizvi, Mohammed Al-Asmari, Abdulrahman Al-Asmari
BACKGROUND: Schizophrenia is one of the most common devastating psychiatric disorders that negatively affects the quality of life and psychosocial functions. Its etiology involves the interplay of complex polygenic influences and environmental risk factors. Inflammatory markers are well-known etiological factors for psychiatric disorders, including schizophrenia. OBJECTIVE: The aim of this study was to investigate the association of proinflammatory cytokine genes, tumor necrosis factor (TNF)-α (-308G/A) and TNF-β (+252A/G) polymorphisms with schizophrenia susceptibility...
2017: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/28442710/lsh-hells-regulates-self-renewal-proliferation-of-neural-stem-progenitor-cells
#13
Yixing Han, Jianke Ren, Eunice Lee, Xiaoping Xu, Weishi Yu, Kathrin Muegge
Epigenetic mechanisms are known to exert control over gene expression and determine cell fate. Genetic mutations in epigenetic regulators are responsible for several neurologic disorders. Mutations of the chromatin remodeling protein Lsh/HELLS can cause the human Immunodeficiency, Centromere instability and Facial anomalies (ICF) syndrome, which is associated with neurologic deficiencies. We report here a critical role for Lsh in murine neural development. Lsh depleted neural stem/progenitor cells (NSPCs) display reduced growth, increases in apoptosis and impaired ability of self-renewal...
April 25, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28442527/a-novel-fibrillin-1-gene-mutation-leading-to-marfan-syndrome-in-a-korean-girl
#14
Hyo-Kyoung Nam, Myung-Hyun Nam, Kee-Soo Ha, Young-Jun Rhie, Kee-Hyoung Lee
Marfan syndrome is an autosomal dominant genetic disorder caused by a connective tissue defect. A nine-year-old girl was referred to our pediatric endocrinology clinic for tall stature. Physical examination revealed a lens dislocation with strabismus, high palate, positive wrist and thumb signs, joint hypermobility, and pes planus. Transthoracic echocardiography revealed dilatation of the aortic root. She was diagnosed with Marfan syndrome based on the revised Ghent diagnostic criteria. Molecular investigation identified a heterozygous c...
March 2017: Annals of Clinical and Laboratory Science
https://www.readbyqxmd.com/read/28442525/korean-monozygotic-twins-with-lethal-acantholytic-epidermolysis-bullosa-caused-by-two-novel-dsp-mutations
#15
Se Jin Kim, Jung Min Ko, Seung Han Shin, Ee-Kyung Kim, Han-Suk Kim, Kyung-A Lee
Desmoplakin is an essential cytoplasmic plaque protein in desmosomes, and it is the major linker between intercellular junctions in the skin and heart. The role of desmoplakin is anchoring transmembrane cadherins to cytoplasmic intermediate filaments. The desmoplakin gene (DSP) is located on chromosome 6, and six common allelic disorders are associated with this gene, including autosomal-dominant or -recessive disorders that affect the skin, heart, hair, and nails. In particular, lethal acantholytic epidermolysis bullosa (LAEB) is an autosomal recessively inherited and extremely rare genetic skin disorder, and only three molecularly confirmed families with LAEB have been reported previously...
March 2017: Annals of Clinical and Laboratory Science
https://www.readbyqxmd.com/read/28442439/marshall-smith-syndrome-novel-pathogenic-variant-and-previously-unreported-associations-with-precocious-puberty-and-aortic-root-dilatation
#16
Anjali Aggarwal, Joanne Nguyen, Michelle Rivera-Davila, David Rodriguez-Buritica
Marshall-Smith Syndrome (MRSHSS) is a very rare genetic disorder characterized by failure to thrive and characteristic dysmorphic features associated with accelerated osseous maturation. We present a nine-year-old girl who was diagnosed with MRSHSS based on characteristic clinical features supported by the identification of a novel de novo pathogenic variant in the NFIX gene. The patient also presented with precocious puberty diagnosed at five years of age and had an abnormal GnRH stimulation test indicative of central precocious puberty...
April 22, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28442247/regional-enrichment-analyses-on-genetic-profiles-for-schizophrenia-and-bipolar-disorder
#17
Jingyu Liu, Jiayu Chen, Nora I Perrone-Bizzozero, Jessica A Turner, Vince D Calhoun
Both schizophrenia (SZ) and bipolar disorder (BD) are highly heritable psychiatric disorders. The significant genomic risk loci are of great importance but with no guarantee of known functional impact and they cannot totally explain the genetic inheritance. In this study we present regional enrichment analyses across the genome, aiming to strike a balance between individual risk loci and integrated regional effects. Chromosomes were partitioned into 2 million base-pair regions (indicated by an underscore sign in the cytogenetic bands) on which enrichment tests are performed...
April 22, 2017: Schizophrenia Research
https://www.readbyqxmd.com/read/28441669/keep-them-breathing-cystic-fibrosis-pathophysiology-diagnosis-and-treatment
#18
Sheena D Brown, Rachel White, Phil Tobin
Cystic fibrosis (CF) affects more than 30,000 people in the United States and 80,000 people worldwide. This life-threatening genetic disorder causes a buildup of thick, viscous mucus secretions in various organ systems, most commonly the gastrointestinal, pulmonary, and genitourinary systems. This article reviews the clinical manifestations, diagnosis, and monitoring of patients with CF as well as guidelines for management and emerging pharmacologic treatments.
May 2017: JAAPA: Official Journal of the American Academy of Physician Assistants
https://www.readbyqxmd.com/read/28441660/the-phenotype-and-outcome-of-infantile-cardiomyopathy-caused-by-a-homozygous-elac2-mutation
#19
Zarghuna M A Shinwari, Abdulrahman Almesned, Ali Alakhfash, Ahmad M Al-Rashdan, Eissa Faqeih, Zainab Al-Humaidi, Ahmed Alomrani, Malak Alghamdi, Dilek Colak, Abdullah Alwadai, Monther Rababh, Majid Al-Fayyadh, Zuhair N Al-Hassnan
OBJECTIVE: Cardiomyopathy (CMP) in children is a clinically and genetically heterogeneous group of disorders. Disease-associated mutations have been identified in more than 50 genes. Recently, mutations in the mitochondrial tRNA processing gene, ELAC2, were reported to be associated with the recessively inherited form of hypertrophic CMP (HCM). This study is aimed at describing the cardiac phenotype and outcome of ELAC2 mutation. METHODS: We performed whole exome sequencing followed by targeted mutation screening to identify the genetic etiology of severe infantile-onset CMP in 64 consanguineous Saudi families...
April 26, 2017: Cardiology
https://www.readbyqxmd.com/read/28440853/antibiotic-strategies-for-eradicating-pseudomonas-aeruginosa-in-people-with-cystic-fibrosis
#20
REVIEW
Simon C Langton Hewer, Alan R Smyth
BACKGROUND: Respiratory tract infection with Pseudomonas aeruginosa occurs in most people with cystic fibrosis. Once chronic infection is established, Pseudomonas aeruginosa is virtually impossible to eradicate and is associated with increased mortality and morbidity. Early infection may be easier to eradicate.This is an update of a Cochrane review first published in 2003, and previously updated in 2006, 2009 and 2014. OBJECTIVES: To determine whether antibiotic treatment of early Pseudomonas aeruginosa infection in children and adults with cystic fibrosis eradicates the organism, delays the onset of chronic infection, and results in clinical improvement...
April 25, 2017: Cochrane Database of Systematic Reviews
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