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https://www.readbyqxmd.com/read/28727893/outcome-after-prenatal-and-postnatal-diagnosis-of-complex-congenital-heart-defects-and-the-influence-of-genetic-anomalies
#1
Katya De Groote, Ellen Vanhie, Ellen Roets, Paul Ramaekers, Hans De Wilde, Joseph Panzer, Kristof Vandekerckhove, Thierry Bove, Katrien François, Koen Van Herck, Daniël De Wolf
OBJECTIVE: Determine prenatal detection rate, mortality and association with genetic abnormalities in patients with severe CHD. METHOD: Single center retrospective study in patients with severe CHD diagnosed pre or postnatally (2006 to 2014). RESULTS: 567 patients were included, 176 (31%) after prenatal diagnosis, with large differences in prenatal detection rate among CHD types. Coarctation (24%), tetralogy of Fallot (21%) and univentricular heart (19%) were the most prevalent CHD...
July 20, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28725922/genetic-testing-protocol-reduces-costs-and-increases-rate-of-genetic-diagnosis-in-infants-with-congenital-heart-disease
#2
Gabrielle C Geddes, Donald Basel, Peter Frommelt, Aaron Kinney, Michael Earing
Genetic testing is routinely performed on infants with critical congenital heart disease (CHD). This project reviewed the effect of implementing a genetic testing protocol in this population. Charts of infants with critical CHD were reviewed for genetic testing and results across two time periods: the time before implementation of a genetic testing protocol (pre-protocol) and the time after implementation (post-protocol). The use of karyotype, 22q11.2 Deletion testing, and chromosomal microarray were compared across these two time periods...
July 19, 2017: Pediatric Cardiology
https://www.readbyqxmd.com/read/28725580/pre-biopsy-mri-as-an-adjunct-for-cancer-detection-in-men-with-elevated-psa-and-no-previous-biopsy
#3
REVIEW
Facundo Uriburu-Pizarro, Veeru Kasivisvanathan, Philippe Puech, Arnauld Villers
The role of magnetic resonance imaging (MRI) prior to biopsy in the diagnosis of prostate cancer in biopsy-naïve patients has been strengthened by recent developments such as the PIRADS V2 criteria, which cover acquisition, interpretation, and reporting for clinical practice and data collection for research. Important questions on the role of prostate MRI remain: can MRI be used as a triage test before first biopsy series? Can it be used to avoid the use of systematic biopsies (SB) and instead use only targeted biopsies (TB) to MRI-suspicious lesions? Studies to evaluate image guided TB compared to SB have started to accumulate...
June 2017: Translational Andrology and Urology
https://www.readbyqxmd.com/read/28712952/a-robust-high-throughput-fungal-biosensor-assay-for-the-detection-of-estrogen-activity
#4
Christoph Zutz, Karen Wagener, Desislava Yankova, Stefanie Eder, Erich Möstl, Marc Drillich, Kathrin Rychli, Martin Wagner, Joseph Strauss
Estrogenic active compounds are present in a variety of sources and may alter biological functions in vertebrates. Therefore, it is crucial to develop innovative analytical systems that allow us to screen a broad spectrum of matrices and deliver fast and reliable results. We present the adaptation and validation of a fungal biosensor for the detection of estrogen activity in cow derived samples and tested the clinical applicability for pregnancy diagnosis in 140 mares and 120 cows. As biosensor we used a previously engineered genetically modified strain of the filamentous fungus Aspergillus nidulans, which contains the human estrogen receptor alpha and a reporter construct, in which β-galactosidase gene expression is controlled by an estrogen-responsive-element...
July 13, 2017: Steroids
https://www.readbyqxmd.com/read/28712537/efficacy-and-safety-of-voretigene-neparvovec-aav2-hrpe65v2-in-patients-with-rpe65-mediated-inherited-retinal-dystrophy-a-randomised-controlled-open-label-phase-3-trial
#5
Stephen Russell, Jean Bennett, Jennifer A Wellman, Daniel C Chung, Zi-Fan Yu, Amy Tillman, Janet Wittes, Julie Pappas, Okan Elci, Sarah McCague, Dominique Cross, Kathleen A Marshall, Jean Walshire, Taylor L Kehoe, Hannah Reichert, Maria Davis, Leslie Raffini, Lindsey A George, F Parker Hudson, Laura Dingfield, Xiaosong Zhu, Julia A Haller, Elliott H Sohn, Vinit B Mahajan, Wanda Pfeifer, Michelle Weckmann, Chris Johnson, Dina Gewaily, Arlene Drack, Edwin Stone, Katie Wachtel, Francesca Simonelli, Bart P Leroy, J Fraser Wright, Katherine A High, Albert M Maguire
BACKGROUND: Phase 1 studies have shown potential benefit of gene replacement in RPE65-mediated inherited retinal dystrophy. This phase 3 study assessed the efficacy and safety of voretigene neparvovec in participants whose inherited retinal dystrophy would otherwise progress to complete blindness. METHODS: In this open-label, randomised, controlled phase 3 trial done at two sites in the USA, individuals aged 3 years or older with, in each eye, best corrected visual acuity of 20/60 or worse, or visual field less than 20 degrees in any meridian, or both, with confirmed genetic diagnosis of biallelic RPE65 mutations, sufficient viable retina, and ability to perform standardised multi-luminance mobility testing (MLMT) within the luminance range evaluated, were eligible...
July 13, 2017: Lancet
https://www.readbyqxmd.com/read/28711302/potential-selection-of-genetically-balanced-spermatozoa-based-on-the-hypo-osmotic-swelling-test-in-chromosomal-rearrangement-carriers
#6
Alexandre Rouen, Léa Carlier, Solveig Heide, Matthieu Egloff, Pauline Marzin, Flavie Ader, Mathias Schwartz, Eli Rogers, Nicole Joyé, Richard Balet, Nathalie Lédée, Laura Prat-Ellenberg, Nino Guy Cassuto, Jean-Pierre Siffroi
Chromosomal translocations and other balanced rearrangements, although usually associated with a normal phenotype, can lead to the transmission of an abnormal unbalanced genome to the offspring. Balanced and unbalanced spermatozoa, being indistinguishable, cannot be selected or deselected for prior to IVF and pre-implantation genetic diagnosis. Spermatozoa from 16 chromosomal rearrangement carriers were studied. After incubation in a hypo-osmotic solution (hypo-osmotic swelling test, or HOST), spermatozoa were fixed on microscope slides...
June 27, 2017: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/28711074/hereditary-renal-diseases
#7
Lakshmi Mehta, Belinda Jim
Hereditary kidney disease comprises approximately 10% of adults and nearly all children who require renal replacement therapy. Technologic advances have improved our ability to perform genetic diagnosis and enhanced our understanding of renal and syndromic diseases. In this article, we review the genetics of renal diseases, including common monogenic diseases such as polycystic kidney disease, Alport syndrome, and Fabry disease, as well as complex disorders such as congenital anomalies of the kidney and urinary tract...
July 2017: Seminars in Nephrology
https://www.readbyqxmd.com/read/28702341/severe-dyspnea-in-a-patient-with-neurofibromatosis-type-1
#8
P B Poble, J C Dalphin, B Degano
Neurofibromatosis type 1 (NF1) is a genetic disease in which pulmonary complications are rare, but severe, especially pulmonary hypertension (PH). The mechanisms underlying the onset of PH in patients with NF1 are unclear and might be multifactorial. In particular, the frequent presence of pulmonary parenchymal lesions makes etiological diagnosis of PH difficult. We describe here the case of a patient with NF1 admitted to our clinic with dyspnea and right heart failure revealing severe pre-capillary PH. Parenchymal lesions were mild and PH was attributed to pulmonary vascular involvement...
2017: Respiratory Medicine Case Reports
https://www.readbyqxmd.com/read/28701203/discovery-of-a-novel-dominant-mutation-in-the-ren-gene-after-forty-years-of-renal-disease-a-case-report
#9
Rhian L Clissold, Helen C Clarke, Olivera Spasic-Boskovic, Kim Brugger, Stephen Abbs, Coralie Bingham, Charles Shaw-Smith
BACKGROUND: Heterozygous mutations in the gene encoding renin (REN) cause autosomal dominant tubulointerstitial kidney disease (ADTKD), early-onset anaemia and hyperuricaemia; only four different mutations have been described in the published literature to date. We report a novel dominant REN mutation discovered in an individual after forty years of renal disease. CASE PRESENTATION: A 57 year old Caucasian woman with chronic kidney disease stage five was reviewed in a regional joint renal genetics clinic...
July 12, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28695165/neonatal-retinoblastoma
#10
REVIEW
Tero T Kivelä, Theodora Hadjistilianou
From 7% to 10% of all retinoblastomas and from 44% to 71% of familial retinoblastomas in developed countries are diagnosed in the neonatal period, usually through pre- or post-natal screening prompted by a positive family history and sometimes serendipitously during screening for retinopathy of prematurity or other reasons. In developing countries, neonatal diagnosis of retinoblastoma has been less common. Neonatal retinoblastoma generally develops from a germline mutation of RB1, the retinoblastoma gene, even when the family history is negative and is thus usually hereditary...
July 2017: Asia-Pacific Journal of Oncology Nursing
https://www.readbyqxmd.com/read/28691390/an-improved-digital-polymerase-chain-reaction-protocol-to-capture-low-copy-kras-mutations-in-plasma-cell-free-dna-by-resolving-subsampling-issues
#11
REVIEW
Yusuke Ono, Ayumu Sugitani, Hidenori Karasaki, Munehiko Ogata, Reo Nozaki, Junpei Sasajima, Tomoki Yokochi, Shingo Asahara, Kazuya Koizumi, Kiyohiro Ando, Katsunori Hironaka, Tsutomu Daito, Yusuke Mizukami
Genetic alterations responsible for the initiation of cancer may serve as immediate biomarkers for early diagnosis. Plasma levels of cell-free DNA (cfDNA) in cancer patients are higher than those in healthy individuals, however, the major technical challenge for the widespread implementation of cfDNA genotyping as a diagnostic tool is the insufficient sensitivity and specificity of detecting early-stage tumors that shed low amounts of cfDNA. To establish a protocol for ultrasensitive droplet digital polymerase chain reaction (ddPCR) for quantification of low-frequency alleles within a limited cfDNA pool, two-step multiplex ddPCR targeting eight clinically relevant mutant KRAS variants was examined...
July 10, 2017: Molecular Oncology
https://www.readbyqxmd.com/read/28690312/wolff-parkinson-white-syndrome-with-ventricular-hypertrophy-in-a-brazilian-family
#12
Lenises de Paula van der Steld, Oscar Campuzano, Alexandra Pérez-Serra, Mabel Moura de Barros Zamorano, Selma Sousa Matos, Ramon Brugada
BACKGROUND PRKAG2 syndrome diagnosis is already well-defined as Wolff-Parkinson-White syndrome (WPW), ventricular hypertrophy (VH) due to glycogen accumulation, and conduction system disease (CSD). Because of its rarity, there is a lack of literature focused on the treatment. The present study aimed to describe appropriate strategies for the treatment of affected family members with PRKAG2 syndrome with a long follow-up period. CASE REPORT We studied 60 selected individuals from 84 family members (32 males, 53...
July 10, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/28690015/causes-of-failure-of-pallidal-deep-brain-stimulation-in-cases-with-pre-operative-diagnosis-of-isolated-dystonia
#13
K Amande M Pauls, Joachim K Krauss, Constanze E Kämpfer, Andrea A Kühn, Christoph Schrader, Martin Südmeyer, Niels Allert, Rainer Benecke, Christian Blahak, Jana K Boller, Gereon R Fink, Wolfgang Fogel, Thomas Liebig, Faycal El Majdoub, Philipp Mahlknecht, Josef Kessler, Joerg Mueller, Juergen Voges, Matthias Wittstock, Alexander Wolters, Mohammad Maarouf, Elena Moro, Jens Volkmann, Kailash P Bhatia, Lars Timmermann
INTRODUCTION: Pallidal deep brain stimulation (GPi-DBS) is an effective therapy for isolated dystonia, but 10-20% of patients show improvement below 25-30%. We here investigated causes of insufficient response to GPi-DBS in isolated dystonia in a cross-sectional study. METHODS: Patients with isolated dystonia at time of surgery, and <30% improvement on the Burke-Fahn-Marsden dystonia-rating-scale (BFMDRS) after ≥6 months of continuous GPi-DBS were videotaped ON and OFF stimulation, and history, preoperative videos, brain MRI, medical records, stimulation settings, stimulation system integrity, lead location, and genetic information were obtained and reviewed by an expert panel...
June 28, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28687174/pre-implantation-hla-matching-the-production-of-a-saviour-child
#14
REVIEW
Georgia Kakourou, Christina Vrettou, Maria Moutafi, Joanne Traeger-Synodinos
Pre-implantation genetic diagnosis (PGD) requires the use of assisted reproductive technology (ART) to create several pre-implantation-stage embryos, followed by biopsy of embryonic cells for genetic testing and transfer of selected embryos to the womb to establish a pregnancy. HLA typing of ART-created embryos was first reported in 2001. The aim is to establish a pregnancy that is HLA-compatible with an affected sibling who requires haematopoietic stem cell transplantation. HLA-typing can be performed with or without PGD for the exclusion of a single-gene disorder...
June 16, 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28685506/update-on-modern-management-of-pheochromocytoma-and-paraganglioma
#15
REVIEW
Jacques W M Lenders, Graeme Eisenhofer
Despite all technical progress in modern diagnostic methods and treatment modalities of pheochromocytoma/paraganglioma, early consideration of the presence of these tumors remains the pivotal link towards the best possible outcome for patients. A timely diagnosis and proper treatment can prevent the wide variety of potentially catastrophic cardiovascular complications. Modern biochemical testing should include tests that offer the best available diagnostic performance, measurements of metanephrines and 3-methoxytyramine in plasma or urine...
June 2017: Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28674770/choosing-between-higher-and-lower-resolution-microarrays-do-pregnant-women-have-sufficient-knowledge-to-make-informed-choices-consistent-with-their-attitude
#16
S L van der Steen, E M Bunnik, M G Polak, K E M Diderich, J Verhagen-Visser, L C P Govaerts, M Joosten, M F C M Knapen, A T J I Go, D Van Opstal, M I Srebniak, R J H Galjaard, A Tibben, S R Riedijk
Developments in prenatal testing allow the detection of more findings. SNP arrays in prenatal diagnosis (PND) can be analyzed at 0.5 Mb resolution detecting more clinically relevant anomalies, or at 5 Mb resolution. We investigated whether women had sufficient knowledge to make informed choices regarding the scope of their prenatal test that were consistent with their attitude. Pregnant women could choose between testing at 5 or at 0.5 Mb array. Consenting women (N = 69) received pre-test genetic counseling by phone and filled out the Measure of Informed Choice questionnaire designed for this study...
July 4, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28670358/aesthetic-treatment-of-bruxism
#17
REVIEW
Shino Bay Aguilera, Liza Brown, Viviana Andrea Perico
Bruxism is a diurnal or nocturnal parafunctional activity that includes unconscious clenching, grinding, or bracing of the teeth. An extensive medical history should be taken in these patients so proper diagnosis can be made. Habits such as biting the tongue, cheeks or lips, chewing gum or eating seeds for many hours per day, biting nails, and/or biting hard objects, will cause and/or exacerbate pre-existing bruxism. The etiology of bruxism is uncertain, but it is hypothesized to be associated with genetic, structural, and psychosocial factors...
May 2017: Journal of Clinical and Aesthetic Dermatology
https://www.readbyqxmd.com/read/28658204/tracing-the-origins-of-relapse-in-acute-myeloid-leukaemia-to-stem-cells
#18
Liran I Shlush, Amanda Mitchell, Lawrence Heisler, Sagi Abelson, Stanley W K Ng, Aaron Trotman-Grant, Jessie J F Medeiros, Abilasha Rao-Bhatia, Ivana Jaciw-Zurakowsky, Rene Marke, Jessica L McLeod, Monica Doedens, Gary Bader, Veronique Voisin, ChangJiang Xu, John D McPherson, Thomas J Hudson, Jean C Y Wang, Mark D Minden, John E Dick
In acute myeloid leukaemia, long-term survival is poor as most patients relapse despite achieving remission. Historically, the failure of therapy has been thought to be due to mutations that produce drug resistance, possibly arising as a consequence of the mutagenic properties of chemotherapy drugs. However, other lines of evidence have pointed to the pre-existence of drug-resistant cells. For example, deep sequencing of paired diagnosis and relapse acute myeloid leukaemia samples has provided direct evidence that relapse in some cases is generated from minor genetic subclones present at diagnosis that survive chemotherapy, suggesting that resistant cells are generated by evolutionary processes before treatment and are selected by therapy...
June 28, 2017: Nature
https://www.readbyqxmd.com/read/28650953/de-novo-paternal-fbn1-mutation-detected-in-embryos-before-implantation
#19
Shuling Wang, Ziru Niu, Hui Wang, Minyue Ma, Wei Zhang, Shu Fang Wang, Jun Wang, Hong Yan, Yifan Liu, Na Duan, Xiandong Zhang, Yuanqing Yao
BACKGROUND Marfan syndrome (MFS) is an autosomal dominant disease caused by mutations in the Fibrillin (FBN)1 gene and characterized by disorders in the cardiovascular, skeletal, and visual systems. The diversity of mutations and phenotypic heterogeneity of MFS make prenatal molecular diagnoses difficult. In this study, we used pre-implantation genetic diagnosis (PGD) to identify the pathogenic mutation in a male patient with MFS and to determine whether his offspring would be free of the disease. MATERIAL AND METHODS The history and pedigree of the proband were analyzed...
June 26, 2017: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/28619159/original-mycobacterial-sin-a-consequence-of-highly-homologous-antigens
#20
REVIEW
A O Jenkins, A Michel, V Rutten
The role of antigens shared between Mycobacteria in in-vivo cross-reactive immune responses in host animals, have been reported to be responsible for reduced BCG vaccination efficacy as well reduced specificity of routine immunological diagnostic tests. This presents with significant disease control challenges in humans and animals. The present review highlights the results of previous studies on the effect of pre-sensitization to environmental mycobacteria on either pathogenic mycobacteria and/or M. bovis BCG, in experimental animals...
May 2017: Veterinary Microbiology
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