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Genetic disorder

Valéria de Lima Kaminski, Joel Henrique Ellwanger, Valeria Sandrim, Alessandra Pontillo, José Artur Bogo Chies
Pre-eclampsia (PE) is a hypertensive disorder that affects an important number of pregnant women worldwide. The exact causes of PE remain poorly understood. However, inflammation and deregulation of innate immune cells, such as natural killer (NK) cells, contribute to PE pathogenesis. Besides, the mother's genetic background also impacts on PE susceptibility. Thus, genetic variants that potentially modify the behaviour of inflammatory cells may help us to understand the causes of PE. Variants of genes encoding NKG2C (expressed in NK cells) and C-C chemokine receptor type 5 (CCR5) (expressed mainly in leucocytes) are important targets in the study of gestational disorders...
February 20, 2019: International Journal of Immunogenetics
Linde C M van Dongen, Ellen Wingbermühle, William M van der Veld, Karlijn Vermeulen, Anja G Bos-Roubos, Charlotte W Ockeloen, Tjitske Kleefstra, Jos I M Egger
KBG syndrome is a neurodevelopmental disorder, caused by dominant mutations in ANKRD11, that is characterized by developmental delay/intellectual disability, mild craniofacial dysmorphisms, and short stature. Behavior and cognition have hardly been studied, but anecdotal evidence suggests higher frequencies of ADHD-symptoms and social-emotional impairments. In this study, behavioral and cognitive profile of KBG syndrome will be investigated in order to examine if and how cognitive deficits contribute to behavioral difficulties...
February 20, 2019: Genes, Brain, and Behavior
Ann Mary Alex, Korammannil R Saradalekshmi, Neena Shilen, Poovathinal A Suresh, Moinak Banerjee
Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with impairments in social communication, restricted, repetitive and stereotyped behaviors. Both genetic and environmental factors are known to contribute toward pathophysiology of Autism. Environmental influences on gene expression can be mediated by methylation patterns which are established and maintained by DNA methyltransferases. Several studies in the past have investigated the role of global methylations in Autism. The present study is aimed to investigate the role of genetic variations in the DNA methyltransferase which might be critical in defining the threshold for environmental factors toward susceptibility to autism...
February 20, 2019: IUBMB Life
Ali Zarei, Vahid Razban, Seyed Ebrahim Hosseini, Seyed Mohammad Bagher Tabei
AIMS: Set of unique sequences in bacterial genomes, responsible for protecting bacteria against bacteriophages, have been recently used for genetic manipulation of specific points in the genome. These system comprises of one RNA component and one enzyme component, known as CRISPR and Cas9, respectively. The present review focuses on the applications of the CRISPR/Cas9 technology in the development of cellular and animal models of human disease. DISCUSSION: Making a desired genetic alteration depend on the design of RNA molecules that guide endonucleases to a favorable genomic location...
February 20, 2019: Journal of Gene Medicine
Klaus-Peter Lesch
Converging evidence from new epidemiologic, genetic, epigenetic, neuroimaging, and experimental model findings are further refining a long-standing concept, regarding the underlying neurobiology of attention-deficit/hyperactivity disorder (ADHD): that ADHD onset and its persistence into adulthood are the result of dysregulated myelination and associated alterations in neuronal plasticity - linked to disrupted brain maturation and the persistence of cognitive and emotional impairments across the life span. If supported by further work, this concept represents a pathophysiologic mechanism amenable to therapeutic intervention...
March 2019: Journal of Child Psychology and Psychiatry, and Allied Disciplines
Lidija K Gorsic, Matthew Dapas, Richard S Legro, M Geoffrey Hayes, Margrit Urbanek
CONTEXT: PCOS is a highly heritable, common endocrine disorder characterized by hyperandrogenism, irregular menses and polycystic ovaries. PCOS is often accompanied by elevated levels of anti-Müllerian hormone (AMH). AMH inhibits follicle maturation. AMH also inhibits steroidogenesis through transcriptional repression of CYP17A1. We recently identified 16 rare PCOS-specific pathogenic variants in AMH. OBJECTIVE: To test whether additional members of the AMH signaling pathway also contribute to the etiology of PCOS...
February 20, 2019: Journal of Clinical Endocrinology and Metabolism
Paula Tagliotti
The concept of gender dysphoria is used to designate the dissatisfaction resulting from the conflict between gender identity and gender assigned at birth (genetic, gonadal, genital and morphological). The most frequently encountered psychopathologies include depressive disorders, anxiety, substance abuse, disorders of the personality, and they present a suicide attempt rate of 19 to 25%. Being a manifestation of low prevalence, this report aims to describe the case of a patient with gender dysphoria and comment on the experience of the therapeutic approach...
November 2018: Vertex: Revista Argentina de Psiquiatriá
András Salamon, Péter Faragó, Viola Luca Németh, Noémi Szépfalusi, Emese Horváth, Andrea Vass, Zsuzsanna Bereczky, János Tajti, László Vécsei, Péter Klivényi, Dénes Zádori
Hereditary hemorrhagic teleangiectasia (HHT, Osler-Rendu-Weber disease) is an autosomal dominantly inherited disorder caused by the mutation of several possible genes and characterized by malformations of the arteriovenous system in multiple organs. The clinical diagnosis is based on the Curaçao criteria ((1) spontaneous, recurrent epistaxis; (2) teleangiectasias in characteristic sites (lips, oral cavity, nose, fingers); (3) visceral lesions (gastrointestinal, pulmonary, cerebral, spinal); (4) affected first degree relative)...
January 30, 2019: Ideggyógyászati Szemle
Elizabeth C Davenport, Blanka R Szulc, James Drew, James Taylor, Toby Morgan, Nathalie F Higgs, Guillermo López-Doménech, Josef T Kittler
Altered excitatory/inhibitory (E/I) balance is implicated in neuropsychiatric and neurodevelopmental disorders, but the underlying genetic etiology remains poorly understood. Copy number variations in CYFIP1 are associated with autism, schizophrenia, and intellectual disability, but its role in regulating synaptic inhibition or E/I balance remains unclear. We show that CYFIP1, and the paralog CYFIP2, are enriched at inhibitory postsynaptic sites. While CYFIP1 or CYFIP2 upregulation increases excitatory synapse number and the frequency of miniature excitatory postsynaptic currents (mEPSCs), it has the opposite effect at inhibitory synapses, decreasing their size and the amplitude of miniature inhibitory postsynaptic currents (mIPSCs)...
February 19, 2019: Cell Reports
Sema Hepsen, Erman Cakal, Melia Karakose, Nilnur Eyerci, Hanife Saat, Selvihan Beysel, Sanem Oztekin, Ferda Pinarli, Mesut Parlak
Polycystic ovary syndrome (PCOS) is a frequent complex disorder with an ill-defined etiology. Genetic factors seem rather effective at the occurrence of the disease, however, the evidence of established various studies results are unsatisfied. We aimed to make a contribution to the genetic baseline of the disease by investigating melanocortin 3 receptor gene polymorphism in affected patients. 101 PCOS patients and 162 age-matched healthy volunteered control subjects recruited to the study. PCOS patients classified according to their BMI class and insulin resistance situation...
February 20, 2019: Gynecological Endocrinology
Ai-Ling Koh, Ee-Shien Tan, Maggie S Brett, Angeline H M Lai, Saumya Shekhar Jamuar, Ivy Ng, Ene-Choo Tan
BACKGROUND: Noonan syndrome (NS) is an autosomal dominant disorder that belongs to a group of developmental disorders called RASopathies with overlapping features and multiple causative genes. The aim of the study was to identify mutations underlying this disorder in patients from Southeast Asia and characterize their clinical presentations. METHODS: Patients were identified from the hospital's Genetics clinics after assessment by attending clinical geneticists...
February 19, 2019: Molecular Genetics & Genomic Medicine
Dominic J Gessler, Phillip W L Tai, Jia Li, Guangping Gao
The central nervous system (CNS) is a fascinating and intricate set of biological structures that we have yet to fully understand. Studying the in vivo function of the CNS and finding novel methods for treating neurological disorders have been particularly challenging. One difficulty is correcting genetic disorders afflicting the CNS in a targeted manner. Recombinant adeno-associated viruses (rAAVs) have emerged as promising therapeutic tools for treating genetic defects of the CNS, due to their excellent safety profile and ability to cross the blood-brain barrier (BBB)...
2019: Methods in Molecular Biology
Stuart K Shapira, Lin H Tian, Arthur S Aylsworth, Ellen R Elias, Julie E Hoover-Fong, Naomi J L Meeks, Margaret C Souders, Anne C-H Tsai, Elaine H Zackai, Aimee A Alexander, Marshalyn Yeargin-Allsopp, Laura A Schieve
The presence of multiple dysmorphic features in some children with autism spectrum disorder (ASD) might identify distinct ASD phenotypes and serve as potential markers for understanding causes and prognoses. To evaluate dysmorphology in ASD, children aged 3-6 years with ASD and non-ASD population controls (POP) from the Study to Explore Early Development were evaluated using a novel, systematic dysmorphology review approach. Separate analyses were conducted for non-Hispanic White, non-Hispanic Black, and Hispanic children...
February 19, 2019: Journal of Autism and Developmental Disorders
A S Kosovtseva, Т А Bairova, L V Rychkova, V M Polyakov, L I Kolesnikova
We present prognostic risk models for structural and functional cardiovascular disorders in Caucasian adolescents (Russians) with essential hypertension aged 14-17 years (15.92±1.12) taking into account biochemical (catecholamines and cortisol) and genetic parameters (carriage of polymorphic variants of α2A-adrenergic receptor gene ARA2A (-1291С>G), norepinephrine transporter NET (-1287G>A), and D2-dopamine receptor DRD2 (-141C Ins/Del) and the data of psychological testing. Prognostically significant risk factors for increased specific peripheral vascular resistance and variability of daytime systolic BP were a combination of [CC+AA] genotypes of ADRA2A -1291C>G and NET -1287G>A polymorphisms, cortisol level, anxiety, and proneness to conflict...
February 19, 2019: Bulletin of Experimental Biology and Medicine
Eugene Won, Jose-Alberto Palma, Horacio Kaufmann, Sarah S Milla, Benjamin Cohen, Lucy Norcliffe-Kaufmann, James S Babb, Yvonne W Lui
PURPOSE: Familial dysautonomia (FD) is a rare autosomal recessive disease that affects the development of sensory and autonomic neurons, including those in the cranial nerves. We aimed to determine whether conventional brain magnetic resonance imaging (MRI) could detect morphologic changes in the trigeminal nerves of these patients. METHODS: Cross-sectional analysis of brain MRI of patients with genetically confirmed FD and age- and sex-matched controls. High-resolution 3D gradient-echo T1-weighted sequences were used to obtain measurements of the cisternal segment of the trigeminal nerves...
February 19, 2019: Clinical Autonomic Research: Official Journal of the Clinical Autonomic Research Society
İlker Karacan, Ayşe Balamir, Serdal Uğurlu, Aslı Kireçtepe Aydın, Elif Everest, Seyit Zor, Merve Özkılınç Önen, Selçuk Daşdemir, Ozan Özkaya, Betül Sözeri, Abdurrahman Tufan, Deniz Gezgin Yıldırım, Selçuk Yüksel, Nuray Aktay Ayaz, Rukiye Eker Ömeroğlu, Kübra Öztürk, Mustafa Çakan, Oğuz Söylemezoğlu, Sezgin Şahin, Kenan Barut, Amra Adroviç, Emire Seyahi, Huri Özdoğan, Özgür Kasapçopur, Eda Tahir Turanlı
Systemic autoinflammatory diseases (sAIDs) are a heterogeneous group of disorders, having monogenic inherited forms with overlapping clinical manifestations. More than half of patients do not carry any pathogenic variant in formerly associated disease genes. Here, we report a cross-sectional study on targeted Next-Generation Sequencing (NGS) screening in patients with suspected sAIDs to determine the diagnostic utility of genetic screening. Fifteen autoinflammation/immune-related genes (ADA2-CARD14-IL10RA-LPIN2-MEFV-MVK-NLRC4-NLRP12-NLRP3-NOD2-PLCG2-PSTPIP1-SLC29A3-TMEM173-TNFRSF1A) were used to screen 196 subjects from adult/pediatric clinics, each with an initial clinical suspicion of one or more sAID diagnosis with the exclusion of typical familial Mediterranean fever (FMF) patients...
February 19, 2019: Rheumatology International
Christoph Nitsche, Toby Passioura, Paul Varava, Mithun C Mahawaththa, Mila M Leuthold, Christian D Klein, Hiroaki Suga, Gottfried Otting
The Zika virus presents a major public health concern due to severe fetal neurological disorders associated with infections in pregnant women. In addition to vaccine development, the discovery of selective antiviral drugs is essential to combat future epidemic Zika virus outbreaks. The Zika virus NS2B-NS3 protease, which performs replication-critical cleavages of the viral polyprotein, is a promising drug target. We report the first macrocyclic peptide-based inhibitors of the NS2B-NS3 protease, discovered de novo through in vitro display screening of a genetically reprogrammed library including noncanonical residues...
February 14, 2019: ACS Medicinal Chemistry Letters
Neerja Saraswat, Rajesh Verma, Shekha Neema, Sushil Kumar
Dermatomyositis (DM) is an idiopathic, inflammatory connective tissue disorder characterized by symmetrical proximal myopathy and characteristic skin involvement. The pathogenesis of DM is widely debated; however, it is postulated to be an end result of immune-mediated cascade, triggered by multiple environmental factors in a genetically predisposed individual. In addition to underlying malignancies, many drugs have been reported to be associated with DM. Capecitabine is a chemotherapeutic agent, approved by the United States-Food and Drug Administration for the management of colonic, metastatic colonic, and metastatic breast carcinoma...
November 2018: Indian Journal of Pharmacology
Natasja Wulff Pedersen, Anja Holm, Nikolaj Pagh Kristensen, Anne-Mette Bjerregaard, Amalie Kai Bentzen, Andrea Marion Marquard, Tripti Tamhane, Kristoffer Sølvsten Burgdorf, Henrik Ullum, Poul Jennum, Stine Knudsen, Sine Reker Hadrup, Birgitte Rahbek Kornum
Narcolepsy Type 1 (NT1) is a neurological sleep disorder, characterized by the loss of hypocretin/orexin signaling in the brain. Genetic, epidemiological and experimental data support the hypothesis that NT1 is a T-cell-mediated autoimmune disease targeting the hypocretin producing neurons. While autoreactive CD4+  T cells have been detected in patients, CD8+  T cells have only been examined to a minor extent. Here we detect CD8+  T cells specific toward narcolepsy-relevant peptides presented primarily by NT1-associated HLA types in the blood of 20 patients with NT1 as well as in 52 healthy controls, using peptide-MHC-I multimers labeled with DNA barcodes...
February 19, 2019: Nature Communications
En Luo, Hanghang Liu, Qiucheng Zhao, Bing Shi, Qianming Chen
Rare diseases are usually genetic, chronic and incurable disorders with a relatively low incidence. Developments in the diagnosis and management of rare diseases have been relatively slow due to a lack of sufficient profit motivation and market to attract research by companies. However, due to the attention of government and society as well as economic development, rare diseases have been gradually become an increasing concern. As several dental-craniofacial manifestations are associated with rare diseases, we summarize them in this study to help dentists and oral maxillofacial surgeons provide an early diagnosis and subsequent management for patients with these rare diseases...
February 20, 2019: International Journal of Oral Science
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