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https://www.readbyqxmd.com/read/28917266/urinary-biomarkers-in-prostate-cancer-detection-and-monitoring-progression
#1
REVIEW
Duojia Wu, Jie Ni, Julia Beretov, Paul Cozzi, Mark Willcox, Valerie Wasinger, Bradley Walsh, Peter Graham, Yong Li
Prostate cancer (CaP) is the most common cancer in men and the second leading cause of cancer deaths in males in Australia. Although serum prostate-specific antigen (PSA) has been the most widely used biomarker in CaP detection for decades, PSA screening has limitations such as low specificity and potential association with over-diagnosis. Current biomarkers used in the clinic are not useful for the early detection of CaP, or monitoring its progression, and have limited value in predicting response to treatment...
October 2017: Critical Reviews in Oncology/hematology
https://www.readbyqxmd.com/read/28912884/towards-translational-immunopet-mr-imaging-of-invasive-pulmonary-aspergillosis-the-humanised-monoclonal-antibody-jf5-detects-aspergillus-lung-infections-in-vivo
#2
Genna Davies, Anna-Maria Rolle, Andreas Maurer, Philipp R Spycher, Claudia Schillinger, Djamschid Solouk-Saran, Mike Hasenberg, Juliane Weski, Jesper Fonslet, Adrien Dubois, Frederic Boschetti, Franck Denat, Matthias Gunzer, Martin Eichner, Lauren S Ryder, Mikael Jensen, Roger Schibli, Bernd J Pichler, Stefan Wiehr, Christopher R Thornton
Invasive pulmonary aspergillosis (IPA) is a life-threatening lung disease of hematological malignancy or bone marrow transplant patients caused by the ubiquitous environmental fungus Aspergillus fumigatus. Current diagnostic tests for the disease lack sensitivity as well as specificity, and culture of the fungus from invasive lung biopsy, considered the gold standard for IPA detection, is slow and often not possible in critically ill patients. In a previous study, we reported the development of a novel non-invasive procedure for IPA diagnosis based on antibody-guided positron emission tomography and magnetic resonance imaging (immunoPET/MRI) using a [(64)Cu]DOTA-labeled mouse monoclonal antibody (mAb), mJF5, specific to Aspergillus...
2017: Theranostics
https://www.readbyqxmd.com/read/28904929/diagnosing-mucopolysaccharidosis-type-iv-a-by-the-fluorometric-assay-of-n-acetylgalactosamine-6-sulfate-sulfatase-activity
#3
Sedigheh Shams, Maliheh Barazandeh Tehrani, Gabriel Civallero, Koosha Minookherad, Roberto Giugliani, Aria Setoodeh, Mohammad Taghi Haghi Ashtiani
BACKGROUND: Mucopolysaccharidosis type IVA, also known as Morquio A or MPS IV A, is an autosomal recessive disease caused by the deficiency of the lysosomal enzyme N-acetylgalactosamine-6-sulfate sulfatase (GALNS). The loss of GALNS activity leads to the impaired breakdown of glycosaminoglycans (GAGs) keratan sulfate and chondroitin-6-sulfate. The accumulation of GAGs results in multiple organ damage. The accurate and early diagnosis of this disorder helps enhance the effectiveness of the treatment...
2017: Journal of Diabetes and Metabolic Disorders
https://www.readbyqxmd.com/read/28900363/concerning-the-vitamin-d-reference-range-pre-analytical-and-analytical-variability-of-vitamin-d-measurement
#4
REVIEW
Davide Ferrari, Giovanni Lombardi, Giuseppe Banfi
Unlike other vitamins, the vitamin D concentration in blood varies cyclically over the course of the year in relation to genetic (gender, ethnicity, polymorphisms) and environmental factors (sunlight exposure, diet, food-related or direct vitamin D supplementation, skin pigmentation). Although the major diagnostics manufacturers have recently developed improved automated 25-hydroxy vitamin D immunoassays, the intra- and inter-laboratory variability is still high (especially at low vitamin D concentrations) which might lead to incorrect vitamin D deficiency/insufficiency diagnosis...
October 15, 2017: Biochemia Medica: časopis Hrvatskoga Društva Medicinskih Biokemičara
https://www.readbyqxmd.com/read/28877973/heritable-pulmonary-hypertension-from-bench-to-bedside
#5
REVIEW
Barbara Girerd, Jason Weatherald, David Montani, Marc Humbert
Mutations in the BMPR2 gene, and more rarely in ACVRL1, endoglin, caveolin-1, KCNK3 and TBX4 genes predispose to heritable pulmonary arterial hypertension, an autosomal dominant disease with incomplete penetrance. Bi-allelic mutations in the EIF2AK4 gene predispose to heritable pulmonary veno-occlusive disease/pulmonary capillary haemangiomatosis, an autosomal recessive disease with an unknown penetrance.In France, the national pulmonary hypertension referral centre offers genetic counselling and testing to adults and children...
September 30, 2017: European Respiratory Review: An Official Journal of the European Respiratory Society
https://www.readbyqxmd.com/read/28871934/diffuse-palmoplantar-keratoderma-onychodystrophy-universal-hypotrichosis-and-cysts
#6
Tasleem Arif, Syed Suhail Amin, Mohammad Adil, Mohd Mohtashim
Dear Editor, Clouston syndrome, also called hidrotic ectodermal dysplasia (HED), is an autosomal dominant ectodermal dysplasia characterized by a clinical triad of onychodystrophy, generalized hypotrichosis, and palmoplantar keratoderma (1). Herein we report the case of a 24-year-old male with the distinctive clinical triad associated with multiple epidermoid cysts, which probably reflects the phenotype of Clouston syndrome. A 24-year-old male presented to our Department with diffuse thickening of the skin of his palms and soles since infancy...
July 2017: Acta Dermatovenerologica Croatica: ADC
https://www.readbyqxmd.com/read/28870985/whole-exome-sequencing-gives-additional-benefits-compared-to-candidate-gene-sequencing-in-the-molecular-diagnosis-of-children-with-growth-hormone-or-igf-1-insensitivity
#7
Lucy Shapiro, Sumana Chatterjee, Dina Ramadan, Kate M Davies, Martin O Savage, Louise A Metherell, Helen L Storr
GH insensitivity (GHI) is characterised by short stature, IGF-1 deficiency and normal/elevated serum GH. IGF-1 insensitivity results in pre- and post-natal growth failure with normal/high IGF-1 levels. The prevalence of genetic defects is unknown. OBJECTIVE: To identify the underlying genetic diagnoses in a paediatric cohort with GH or IGF-1 insensitivity using candidate gene (CGS) and whole exome sequencing (WES) and assess factors associated with the discovery of a genetic defect. METHODS: We undertook a prospective study of 132 patients with short stature and suspected GH or IGF-1 insensitivity referred to our centre for genetic analysis...
September 4, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28870871/clinical-genomic-sequencing-as-a-routine-technology-for-case-finding-and-diagnosis-in-unselected-patient-populations-should-not-proceed-without-formal-comparative-evaluation-of-health-outcomes-and-system-impacts
#8
Brenda J Wilson, Fiona Alice Miller, François Rousseau
Next generation genomic sequencing (NGS) technologies - whole genome and whole exome sequencing - are now cheap enough to be within the grasp of many healthcare organizations. To many, NGS is symbolic of cutting edge healthcare, offering the promise of 'precision' and 'personalized' medicine. Historically, research and clinical application has been a two way street in clinical genetics: research often driven directly by the desire to understand and try to solve immediate clinical problems affecting real, identifiable patients and families, accompanied by a low threshold of willingness to apply research-driven interventions without resort to formal empirical evaluations...
September 1, 2017: Journal of Clinical Epidemiology
https://www.readbyqxmd.com/read/28870775/ethical-challenges-in-hematopoietic-cell-transplantation-for-sickle-cell-disease-a-review
#9
REVIEW
Robert Sheppard Nickel, Naynesh R Kamani
Hematopoietic cell transplantation (HCT) using an HLA-identical sibling donor offers a very high likelihood of cure with good outcomes for patients with sickle cell disease (SCD), and alternative donor HCT for SCD is an area of active clinical research. HCT is thus potentially an option for a growing number of patients with SCD, but this expanded use of HCT has raised several ethical questions. Specifically, who is eligible for HCT, both in terms of disease severity and psychosocial factors? Should affected children with matched sibling donors be transplanted only when they have declared themselves as having significant symptomatology? In regards to donors, special ethical challenges include the use of pre-implantation genetic diagnosis to conceive an HLA-identical sibling...
September 1, 2017: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/28858847/pheochromocytoma-diagnosis-and-treatment-review-of-the-literature
#10
F A Farrugia, G Martikos, P Tzanetis, A Charalampopoulos, E Misiakos, N Zavras, D Sotiropoulos
OBJECTIVE: We conducted an extensive review of the literature and tried to cite the most recent recommendations concerning the pheochromocytoma (PHEO). METHODS: Pub Med and Google Scholar databases were searched systematically for studies concerning pheochromocytomas (intra-adrenal paragangliomas) from 1980 until 2016. Bibliographies were searched to find additional articles. RESULTS: More than four times elevation of plasma fractionated metanephrines or elevated 24-h urinary fractionated metanephrines are keys to diagnosing pheochromocytoma...
July 1, 2017: Endocrine Regulations
https://www.readbyqxmd.com/read/28851825/embryo-biopsy-and-development-the-known-and-unknown
#11
Federica Zacchini, Roberta Arena, Adam Abramik, Grazyna Ewa Ptak
Preimplantation genetic diagnosis (PGD) has been introduced in clinical practice as a tool for selecting "healthy" embryos before their transfer in utero. PGD protocols include biopsy of cleaving embryos (Blastomere Biopsy - BB) or blastocysts (trophectoderm biopsy - TB), followed by genetic analysis to select "healthy" embryos for transfer in utero. Currently, TB is replacing the use of BB in the clinical practice. However, based on the European Society of Human Reproduction and Embryology Preimplantation Genetic Diagnosis Consortium reports, BB has been used in >87% of PGD cycles for more than 10 years...
August 29, 2017: Reproduction: the Official Journal of the Society for the Study of Fertility
https://www.readbyqxmd.com/read/28842420/conditional-deletion-of-prnp-rescues-behavioral-and-synaptic-deficits-after-disease-onset-in-transgenic-alzheimer-s-disease
#12
Santiago V Salazar, Christopher Gallardo, Adam C Kaufman, Charlotte S Herber, Laura T Haas, Sophie Robinson, Jean C Manson, Michael K Lee, Stephen M Strittmatter
Biochemical and genetic evidence implicate soluble oligomeric amyloid-beta (Aβo) in triggering Alzheimer's disease (AD) pathophysiology. Moreover, constitutive deletion of the Aβo-binding cellular prion protein (PrP(C)) prevents development of memory deficits in APPswe/PS1ΔE9 mice, a model of familial AD. Here, we define the role of PrP(C) to rescue or halt established AD endophenotypes in a therapeutic disease-modifying time window after symptom onset. Deletion of Prnp at either 12 or 16 months of age fully reverses hippocampal synapse loss, and completely rescues pre-existing behavioral deficits by 17 months...
August 21, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28833715/exploring-the-association-between-genetic-and-environmental-factors-and-molar-incisor-hypomineralization-evidence-from-a-twin-study
#13
Rafael José Pio Barbosa Teixeira, Natália Silva Andrade, Lisanca Carvalho Cavalcante Queiroz, Fausto Medeiros Mendes, Marcoeli Silva Moura, Lúcia de Fátima Almeida de Deus Moura, Marina Deus Moura Lima
BACKGROUND: The etiology of molar-incisor hypomineralization (MIH) remains unknown. Studies indicate that it is multifactorial, and that genetic and environmental factors are involved. Research with twins provides important subsidy to investigate the Influence of genetics and environmental factors that act during pregnancy on the etiology of alterations. AIM: This cross-sectional study evaluated the agreement of molar incisor hypomineralization (MIH) between monozygotic and dizygotic twin pairs and the association with environmental factors...
August 22, 2017: International Journal of Paediatric Dentistry
https://www.readbyqxmd.com/read/28830014/ultradeep-sequencing-of-b-and-non-b-hiv-1-subtypes-viral-diversity-and-drug-resistance-mutations-before-and-after-one-month-of-antiretroviral-therapy-in-naive-patients
#14
Olivier Epaulard, Anne Signori-Schmuck, Sylvie Larrat, Om Kulkarni, Michael G Blum, Katia Fusillier, Myriam Blanc, Pascale Leclercq, Olivier François, Patrice Morand
BACKGROUND: Ultradeep pyrosequencing technologies permit an assessment of the genetic diversity and the presence and frequency of minority variants in a viral population. The effect of these parameters on the outcome of highly active antiretroviral therapy (HAART) in HIV-infected patients is poorly understood. OBJECTIVES: The present study used the pyrosequencing Roche 454 prototype assay to determine whether antiretroviral efficacy is correlated with viral diversity and minority drug resistance mutations in HIV-infected treatment-naive patients and to compare assay performance in B and non-B subtypes...
July 25, 2017: Journal of Clinical Virology: the Official Publication of the Pan American Society for Clinical Virology
https://www.readbyqxmd.com/read/28815877/new-intragenic-rearrangements-in-non-finnish-mulibrey-nanism
#15
Florence Jobic, Gilles Morin, Catherine Vincent-Delorme, Estelle Cadet, Rosalie Cabry, Michèle Mathieu-Dramard, Henri Copin, Jacques Rochette, Guillaume Jedraszak
Prenatal growth is a complex dynamic process controlled by various genetic and environmental factors. Among genetic syndromes characterized by growth restriction, MULIBREY nanism represents a rare autosomal recessive condition presenting with severe pre- and post-natal growth failure, characteristic dysmorphic features but normal neurological development. The phenotype of MULIBREY nanism is variable and overlaps with others such as the Silver-Russell syndrome. We report here three patients in two distinct non-Finnish families from North France who were first suspected to have Silver-Russell syndrome which failed to be confirmed on molecular analyses...
August 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28815849/molecular-aspects-of-uterine-diseases-in-dogs
#16
REVIEW
R Hagman
Uterine diseases are common in dogs, particularly in countries where elective spaying is not usually performed. The associated clinical illnesses may be of varying degree ranging from merely decreased fertility to a critical pyometra requiring intensive care to survive. The diagnosis of some uterine diseases is generally uncomplicated, such as in a classic pyometra presenting with enlarged, fluid-filled uterus, purulent vaginal discharge and characteristic signs of illness or in other disorders associated with uterine enlargement...
August 2017: Reproduction in Domestic Animals, Zuchthygiene
https://www.readbyqxmd.com/read/28807864/reducing-diagnostic-turnaround-times-of-exome-sequencing-for-families-requiring-timely-diagnoses
#17
Aurélie Bourchany, Christel Thauvin-Robinet, Daphné Lehalle, Ange-Line Bruel, Alice Masurel-Paulet, Nolwenn Jean, Sophie Nambot, Marjorie Willems, Laetitia Lambert, Salima El Chehadeh-Djebbar, Elise Schaefer, Aurélia Jaquette, Judith St-Onge, Charlotte Poe, Thibaud Jouan, Martin Chevarin, Patrick Callier, Anne-Laure Mosca-Boidron, Nicole Laurent, Mathilde Lefebvre, Frédéric Huet, Nada Houcinat, Sébastien Moutton, Christophe Philippe, Frédéric Tran-Mau-Them, Antonio Vitobello, Paul Kuentz, Yannis Duffourd, Jean-Baptiste Rivière, Julien Thevenon, Laurence Faivre
BACKGROUND AND OBJECTIVE: Whole-exome sequencing (WES) has now entered medical practice with powerful applications in the diagnosis of rare Mendelian disorders. Although the usefulness and cost-effectiveness of WES have been widely demonstrated, it is essential to reduce the diagnostic turnaround time to make WES a first-line procedure. Since 2011, the automation of laboratory procedures and advances in sequencing chemistry have made it possible to carry out diagnostic whole genome sequencing from the blood sample to molecular diagnosis of suspected genetic disorders within 50 h...
August 12, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28807762/diagnostic-exome-sequencing-identifies-a-heterozygous-mbd5-frameshift-mutation-in-a-family-with-intellectual-disability-and-epilepsy
#18
Ji Yoon Han, In Goo Lee, Woori Jang, Myungshin Kim, Yonggoo Kim, Ja Hyun Jang, Joonhong Park
Methyl-CpG-binding domain 5 (MBD5)-associated neurodevelopmental disorder caused by 2q23.1 or MBD5-specific mutation has been recently identified as a genetic disorder associated with autism spectrum disorders. Phenotypic features of 2q23.1 deletion or disruption of MBD5 gene include severe intellectual disability, seizure, significant speech impairment, sleep disturbance, and autistic-like behavioural problems. Here we report a 7-year-old girl with intellectual disability and epilepsy without previous clinical diagnosis...
October 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28805606/detection-of-sea-type-%C3%AE-thalassemia-in-embryo-biopsies-by-digital-pcr
#19
Ta-Hsien Lee, Ya-Chiung Hsu, Chia Lin Chang
OBJECTIVE: Accurate and efficient pre-implantation genetic diagnosis (PGD) based on the analysis of single or oligo-cells is needed for timely identification of embryos that are affected by deleterious genetic traits in in vitro fertilization (IVF) clinics. Polymerase chain reaction (PCR) is the backbone of modern genetic diagnoses, and a spectrum of PCR-based techniques have been used to detect various thalassemia mutations in prenatal diagnosis (PND) and PGD. Among thalassemias, SEA-type α-thalassemia is the most common variety found in Asia, and can lead to Bart's hydrops fetalis and serious maternal complications...
August 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28803747/novel-heterozygous-mutations-of-the-insr-gene-in-a-familial-case-of-donohue-syndrome
#20
Litao Qin, Xiaobo Li, Qiaofang Hou, Hongdan Wang, Guiyu Lou, Tao Li, Li Wang, Hongyan Liu, Xichuan Li, Shixiu Liao
Donohue syndrome (DS), a rare autosomal recessive disease which represents severe insulin resistance, pre- and postnatal growth retardation, hypertrichosis, and dysmorphic features, is caused by mutations in the insulin receptor (INSR) gene. Here, we have reported the clinical, molecular, and biochemical characterizations of a patient with DS. In this article, we have also reported a case with 2 novel INSR mutations and the DS phenotype. Using next-generation sequencing (NGS), we screened 27 known genes involved in inherited maturity-onset diabetes of the young (MODY) and identified compound heterozygous mutations in the INSR gene in the patient with DS, c...
October 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
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