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Genetic diagnosis

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https://www.readbyqxmd.com/read/29679366/blood-group-and-incidence-of-asthma-and-chronic-obstructive-pulmonary-disease
#1
Bożena Mroczek, Zygmunt Sitko, Agnieszka Sujewicz, Weronika Wolińska, Iwona Karpeta-Pawlak, Donata Kurpas
Chronic respiratory diseases are determined by genetic predisposition, and environmental and socioeconomic variables. One genetic factor underlying susceptibility to such diseases can be the ABO blood group system. The purpose of this study was to investigate the hypothesis that there would be a relationship between the blood group and risk of developing asthma and chronic obstructive pulmonary disease (COPD). We reviewed medical history files of patients with the diagnosis of COPD or asthma, including those suffering from a cancerous disease accompanied by asthma or COPD, hospitalized from January 2016 to July 2017...
April 21, 2018: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29678888/bovine-spastic-syndrome-a-review
#2
REVIEW
Victoria Goeckmann, Sophie Rothammer, Ivica Medugorac
Bovine spastic syndrome (BSS) was described for the first time in 1941. The disease occurs in various-maybe even all-cattle breeds and is a chronic-progressive neuromuscular disorder that commonly affects cattle of at least three years of age. Typical clinical signs of the disease are clonic-tonic cramps of the hindlimbs that occur in attacks. Since BSS does not recover, affected animals can only be treated symptomatically by improving welfare conditions and management factors, or with physical therapy or drugs...
April 20, 2018: Veterinary Record
https://www.readbyqxmd.com/read/29678747/predictive-markers-for-humoral-influenza-vaccine-response-in-patients-with-common-variable-immunodeficiency-cvid
#3
Ann Gardulf, Hassan Abolhassani, Rolf Gustafson, Lars E Eriksson, Lennart Hammarström
BACKGROUND: A subgroup of patients with common variable immunodeficiencies (CVID) responds to vaccination. The aim of the study was to try to identify predictive markers for those who developed a humoral immune response after influenza vaccination. METHODS: 48 patients with CVID (29 females, 19 males, mean age 59.4 years) were vaccinated with the A(H1N1) influenza vaccine Pandemrix® and boosted after one month. Blood samples were collected prior to each vaccination and two months later...
April 17, 2018: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/29678344/-variability-of-chloroquine-and-hydroxychloroquine-retinopathy-among-various-ethnicities
#4
A Giocanti-Aurégan, A Couturier, J-F Girmens, Y Le Mer, N Massamba, E Barreau, I Audo
INTRODUCTION: Current screening recommendations for chloroquine (CQ) and hydroxychloroquine (HCQ) retinopathy are based on central 10°C static perimetry and a high-resolution SD-OCT with a special attention to the inferior part of the macula where the toxicity usually starts by ellipsoid zone disruption. However, Melles and Marmor, have recently shown a great variability in the topography of the initial toxicity observed among various ethnicities, which is important to keep in mind so as not to miss early toxicity in certain subgroups of patients...
April 17, 2018: Journal Français D'ophtalmologie
https://www.readbyqxmd.com/read/29678282/multiple-hormone-resistance-and-alterations-of-g-protein-coupled-receptors-signaling
#5
REVIEW
Mantovani Giovanna, Elli Francesca Marta
Metabolic disorders deriving from the non-responsiveness of target organs to hormones, which manifest clinically similar to the deficiency of a given hormone itself, derive from molecular alterations affecting specific hormone receptors. Pseudohypoparathyroidism (PHP) and related disorders exemplify an unusual form of hormone resistance as the underlying molecular defect is a partial deficiency of the α subunit of the stimulatory G protein (Gsα), a key regulator of cAMP signaling pathway, or, as more recently described, of downstream effector proteins of the same pathway, such as PKA regulatory subunit 1A (R1A) and phosphodyestarase type 4D (PDE4D)...
April 2018: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29677793/a-label-free-detection-of-ndei-endonuclease-activity-by-using-dna-templated-silver-nanoclusters
#6
Chunghyun Lee, Jongback Gang
Restriction endonucleases play an important role in genetic recombination, molecular cloning, clinical diagnosis, and pharmacological application in drug studies. In the present study, DNA-templated Ag+ nanoclusters (DNA-AgNCs) were used to detect NdeI endonuclease activity due to their facile synthesis, outstanding optical properties, and good biocompatibility. This study monitored fluorescence intensity of DNA-AgNCs to detect NdeI endonuclease activity and its inhibition in the presence of 5-fluorouracil under optimal conditions...
September 1, 2018: Journal of Nanoscience and Nanotechnology
https://www.readbyqxmd.com/read/29676942/pharmacotherapy-for-schizophrenia-in-postmenopausal-women
#7
Alexandre González-Rodríguez, Mary V Seeman
Reduced estrogen levels at menopause mean a loss of the neuroprotection that is conferred, from puberty until menopause, on women with schizophrenia. The postmenopausal stage of schizophrenia requires therapeutic attention because women with this diagnosis almost invariably experience increased symptoms and increased side effects at this time. So far, few targeted therapies have been successfully developed. Areas covered: This non-systematic, narrative review is based on the relevant published literature indexed in PubMed...
April 20, 2018: Expert Opinion on Pharmacotherapy
https://www.readbyqxmd.com/read/29676859/a-novel-splicing-mutation-of-ectodysplasin-a-gene-responsible-for-hypohidrotic-ectodermal-dysplasia
#8
Guannan Liu, Xin Wang, Man Qin, Lisha Sun, Junxia Zhu
Hypohidrotic ectodermal dysplasia (HED) is characterized by hypohidrosis, hypodontia, sparse hair and characteristic facial features. This condition is caused by an ectodysplasin A (EDA) gene mutation. In this study, we examined two HED pedigrees and investigated the molecular genetics of the defect. Direct sequencing analysis revealed a previously unidentified mutation in the EDA splice donor site (c.526+1G>A). The function of the mutant EDA gene was predicted through online investigations and subsequently confirmed by splicing analysis in vitro...
April 20, 2018: Oral Diseases
https://www.readbyqxmd.com/read/29676369/a-mesenteric-primary-peripheral-ewing-s-sarcoma-primitive-neuroectodermal-tumor-with-molecular-cytogenetic-analysis-report-of-a-rare-case-and-review-of-literature
#9
Yi-Shu Liao, I-Han Chiang, Hong-Wei Gao
Rare cases of Ewing's sarcoma/primitive neuroectodermal tumors (EWS/PNETs) arising from mesenteric tissue have been reported. This report describes an EWS/PNET in a 25-year-old woman who presented with abdominal pain lasting 3 days. Radiologic evaluation revealed a 9 cm × 6 cm homogeneous mass in the lower abdomen with homogeneous enhancement and invasion of the ileum. Surgical resection was completed during exploratory laparotomy. Immunohistochemically, the tumor cells revealed CD99, friend leukemia virus integration-1 and NKX2...
April 2018: Indian Journal of Pathology & Microbiology
https://www.readbyqxmd.com/read/29676337/familial-aggregation-of-mood-disorders-among-relatives-of-schizophrenia-probands-admitted-in-a-hospital-in-south-eastern-nigeria-a-family-comparative-study
#10
Justus Uchenna Onu, Jude Uzoma Ohaeri
Introduction: The debate on the current nosological status of schizophrenia and mood disorders as distinct entities is very active among scholars. There is a paucity of genetic epidemiological data to contribute an African perspective to this debate. Aim: This study aimed to assess the morbid risk of mood disorders in the relatives of schizophrenia probands, in comparison with the families of a sample of healthy controls. Subjects and Methods: This study elicited the information on the morbid risk of mood disorders among 5259 relatives of schizophrenia probands (n = 138) and 6734 relatives of healthy controls (n = 138) through direct interview of patients, available relatives of patients and the comparison group...
January 2018: Nigerian Postgraduate Medical Journal
https://www.readbyqxmd.com/read/29675737/use-of-genetic-testing-for-primary-immunodeficiency-patients
#11
Jennifer R Heimall, David Hagin, Joud Hajjar, Sarah E Henrickson, Hillary S Hernandez-Trujillo, Yuval Tan, Lisa Kobrynski, Kenneth Paris, Troy R Torgerson, James W Verbsky, Richard L Wasserman, Elena W Y Hsieh, Jack J Blessing, Janet S Chou, Monica G Lawrence, Rebecca A Marsh, Sergio D Rosenzweig, Jordan S Orange, Roshini S Abraham
Genetic testing plays a critical role in diagnosis for many primary immunodeficiency diseases. The goals of this report are to outline some of the challenges that clinical immunologists face routinely in the use of genetic testing for patient care. In addition, we provide a review of the types of genetic testing used in the diagnosis of PID, including their strengths and limitations. We describe the strengths and limitations of different genetic testing approaches for specific clinical contexts that raise concern for specific PID disorders in light of the challenges reported by the clinical immunologist members of the CIS in a recent membership survey...
April 19, 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29674613/risk-factors-and-disease-mechanisms-in-myositis
#12
REVIEW
Frederick W Miller, Janine A Lamb, Jens Schmidt, Kanneboyina Nagaraju
Autoimmune diseases develop as a result of chronic inflammation owing to interactions between genes and the environment. However, the mechanisms by which autoimmune diseases evolve remain poorly understood. Newly discovered risk factors and pathogenic processes in the various idiopathic inflammatory myopathy (IIM) phenotypes (known collectively as myositis) have illuminated innovative approaches for understanding these diseases. The HLA 8.1 ancestral haplotype is a key risk factor for major IIM phenotypes in some populations, and several genetic variants associated with other autoimmune diseases have been identified as IIM risk factors...
April 20, 2018: Nature Reviews. Rheumatology
https://www.readbyqxmd.com/read/29674612/autoantibodies-in-myositis
#13
REVIEW
Neil J McHugh, Sarah L Tansley
The discovery of novel autoantigen systems related to idiopathic inflammatory myopathies (collectively referred to as myositis) in adults and children has had major implications for the diagnosis and management of this group of diseases across a wide range of medical specialties. Traditionally, autoantibodies found in patients with myositis are described as being myositis-specific autoantibodies (MSAs) or myositis-associated autoantibodies (MAAs), depending on their prevalence in other, related conditions. However, certain MSAs are more closely associated with extramuscular manifestations, such as skin and lung disease, than with myositis itself...
April 20, 2018: Nature Reviews. Rheumatology
https://www.readbyqxmd.com/read/29673582/in-silico-prediction-of-the-pathogenic-effect-of-a-novel-variant-of-bckdha-leading-to-classical-maple-syrup-urine-disease-identified-using-clinical-exome-sequencing
#14
Cynthia Fernández-Lainez, Carmen Aláez-Verson, Isabel Ibarra-González, Sergio Enríquez-Flores, Karol Carrillo-Sanchez, Leonardo Flores-Lagunes, Sara Guillén-López, Leticia Belmont-Martínez, Marcela Vela-Amieva
Maple syrup urine disease (MSUD) is a metabolic disorder caused by mutations in three of the branched-chain α-keto acid dehydrogenase complex (BCKDC) genes. Classical MSUD symptom can be observed immediately after birth and include ketoacidosis, irritability, lethargy, and coma, which can lead to death or irreversible neurodevelopmental delay in survivors. The molecular diagnosis of MSUD can be time-consuming and difficult to establish using conventional Sanger sequencing because it could be due to pathogenic variants of any of the BCKDC genes...
April 16, 2018: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/29673480/thalamic-reticular-dysfunction-as-a-circuit-endophenotype-in-neurodevelopmental-disorders
#15
REVIEW
Alexandra Krol, Ralf D Wimmer, Michael M Halassa, Guoping Feng
Diagnoses of behavioral disorders such as autism spectrum disorder and schizophrenia are based on symptomatic descriptions that have been difficult to connect to mechanism. Although psychiatric genetics provide insight into the genetic underpinning of such disorders, with a majority of cases explained by polygenic factors, it remains difficult to design rational treatments. In this review, we highlight the value of understanding neural circuit function both as an intermediate level of explanatory description that links gene to behavior and as a pathway for developing rational diagnostics and therapeutics for behavioral disorders...
April 18, 2018: Neuron
https://www.readbyqxmd.com/read/29673180/accurate-classification-of-nf1-gene-variants-in-84-italian-patients-with-neurofibromatosis-type-1
#16
Alessandro Stella, Patrizia Lastella, Daria Carmela Loconte, Nenad Bukvic, Dora Varvara, Margherita Patruno, Rosanna Bagnulo, Rosaura Lovaglio, Nicola Bartolomeo, Gabriella Serio, Nicoletta Resta
Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant genetic diseases. It is caused by mutations in the NF1 gene encoding for the large protein, neurofibromin. Genetic testing of NF1 is cumbersome because 50% of cases are sporadic, and there are no mutation hot spots. In addition, the most recognizable NF1 clinical features—café-au-lait (CALs) spots and axillary and/or inguinal freckling—appear early in childhood but are rather non-specific. Thus, the identification of causative variants is extremely important for early diagnosis, especially in paediatric patients...
April 17, 2018: Genes
https://www.readbyqxmd.com/read/29673003/prenatal-diagnosis-of-premature-chromatid-separation-mosaic-variegated-aneuploidy-pcs-mva-syndrome
#17
Tomoko Yamaguchi, Masatoshi Yamaguchi, Keiko Akeno, Midori Fujisaki, Kaeko Sumiyoshi, Masanao Ohashi, Hiroshi Sameshima, Mamoru Ozaki, Maki Kato, Takema Kato, Eriko Hosoba, Hiroki Kurahashi
Premature chromatid separation/mosaic variegated aneuploidy (PCS/MVA) syndrome is a rare genetic disorder. In this case report, we describe the prenatal diagnosis of PCS/MVA syndrome in a 24-year-old, gravida 1, para 1, woman who was referred to us in her second trimester due to fetal growth restriction and extreme microcephaly (-5.0 standard deviations). Amniocentesis and chromosomal analysis confirmed PCS in 80% of cultured fetal cells. PCS findings were positive in 9% of paternal cells and 11% of maternal cells, indicative that both were PCS carriers...
April 19, 2018: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/29672931/x-linked-ichthyosis-clinical-and-molecular-findings-in-35-italian-patients
#18
Andrea Diociaiuti, Adriano Angioni, Elisa Pisaneschi, Viola Alesi, Giovanna Zambruno, Antonio Novelli, May El Hachem
Recessive X-linked ichthyosis (XLI), the second most common ichthyosis, is caused by mutations in the STS gene encoding the steroid sulfatase enzyme. A complete deletion of the STS gene is found in 85-90% of cases. Rarely, larger deletions involving contiguous genes are detected in syndromic patients. We report the clinical and molecular genetic findings in a series of 35 consecutive Italian male patients. All patients underwent molecular testing by MLPA or aCGH, followed, in case of negative results, by next generation sequencing analysis...
April 19, 2018: Experimental Dermatology
https://www.readbyqxmd.com/read/29672598/long-qt-molecular-autopsy-in-sudden-unexplained-death-in-the-young-1-40-years-old-lessons-learnt-from-an-eight-year-experience-in-new-zealand
#19
Luciana Marcondes, Jackie Crawford, Nikki Earle, Warren Smith, Ian Hayes, Paul Morrow, Tom Donoghue, Amanda Graham, Donald Love, Jonathan R Skinner
BACKGROUND: To review long QT syndrome molecular autopsy results in sudden unexplained death in young (SUDY) between 2006 and 2013 in New Zealand. METHODS: Audit of the LQTS molecular autopsy results, cardiac investigations and family screening data from gene-positive families. RESULTS: During the study period, 365 SUDY cases were referred for molecular autopsy. 128 cases (35%) underwent LQTS genetic testing. 31 likely pathogenic variants were identified in 27 cases (21%); SCN5A (14/31, 45%), KCNH2 (7/31, 22%), KCNQ1 (4/31, 13%), KCNE2 (3/31, 10%), KCNE1 (2/31, 7%), KCNJ2 (1/31, 3%)...
2018: PloS One
https://www.readbyqxmd.com/read/29671903/a-review-of-mycoplasma-diagnostics-in-cattle
#20
REVIEW
Alysia M Parker, Paul A Sheehy, Mark S Hazelton, Katrina L Bosward, John K House
Mycoplasma species have a global distribution causing serious diseases in cattle worldwide including mastitis, arthritis, pneumonia, otitis media and reproductive disorders. Mycoplasma species are typically highly contagious, are capable of causing severe disease, and are difficult infections to resolve requiring rapid and accurate diagnosis to prevent and control disease outbreaks. This review discusses the development and use of different diagnostic methods to identify Mycoplasma species relevant to cattle, with a particular focus on Mycoplasma bovis...
April 19, 2018: Journal of Veterinary Internal Medicine
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