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https://www.readbyqxmd.com/read/28619159/original-mycobacterial-sin-a-consequence-of-highly-homologous-antigens
#1
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
https://www.readbyqxmd.com/read/28619065/open-issues-in-mucopolysaccharidosis-type-i-hurler
#2
REVIEW
Rossella Parini, Federica Deodato, Maja Di Rocco, Edoardo Lanino, Franco Locatelli, Chiara Messina, Attilio Rovelli, Maurizio Scarpa
Mucopolysaccharidosis I-Hurler (MPS I-H) is the most severe form of a metabolic genetic disease caused by mutations of IDUA gene encoding the lysosomal α-L-iduronidase enzyme. MPS I-H is a rare, life-threatening disease, evolving in multisystem morbidity including progressive neurological disease, upper airway obstruction, skeletal deformity and cardiomyopathy. Allogeneic hematopoietic stem cell transplantation (HSCT) is currently the gold standard for the treatment of MPS I-H in patients diagnosed and treated before 2-2...
June 15, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28612309/pre-implantation-genetic-diagnosis-should-we-use-icsi-for-all
#3
Baruch Feldman, Adva Aizer, Masha Brengauz, Keren Dotan, Jacob Levron, Eyal Schiff, Raoul Orvieto
OBJECTIVE: Intracytoplasmic sperm injection (ICSI) is commonly used during pre-implantation genetic diagnosis (PGD) in vitro fertilization (IVF), aiming to eliminate the risk of contamination from extraneous sperm DNA. Recently, ICSI "overuse" in non-male infertility has been doubted, since it does not offer an advantage over IVF. Prompted by the aforementioned observations, we sought to assess the accuracy of IVF vs ICSI in PGD cases, as might be reflected by a difference in the prevalence of discarded embryos as a consequent of parental contamination...
June 13, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28602465/the-management-of-sexuality-intimacy-and-menopause-symptoms-sims-after-prophylactic-bilateral-salpingo-oophorectomy-how-to-maintain-sexual-health-in-previvors
#4
REVIEW
Mehida Alexandre, Jonathan Black, Margaret Whicker, Mary Jane Minkin, Elena Ratner
"Previvors", or "pre-survivors", are individuals who do not have cancer but have a genetic predisposition to cancer. One such example is women with BRCA mutations. As a result of their predisposition to cancer, many will undergo a bilateral salpingo-oophorectomy when they are premenopausal. For premenopausal women, the removal of ovaries results in the depletion of estrogen, immediate menopause, and, in many cases, resultant Sexuality, Intimacy, and Menopausal Symptoms (SIMS). Furthermore, they may undergo changes in body image...
June 3, 2017: Maturitas
https://www.readbyqxmd.com/read/28602104/reproductive-outcome-following-pre-implantation-genetic-diagnosis-pgd-in-the-uk
#5
Abigail Sharpe, Peter Avery, Meenakshi Choudhary
In 2013, the National Health Service Commissioning board centralized the funding in England for up to three cycles of pre-implantation genetic diagnosis (PGD) for couples who have, or are carriers of, a specific genetic disorder. This study presents the historical data of PGD cycles and their clinical outcomes in UK as extrapolated from the national data registry. Retrospective analysis of outcome of cycles undergoing pre-implantation genetic diagnosis in the UK over the past 20 years was performed from the Human Fertilisation and Embryology Authority database (n = 2974)...
June 12, 2017: Human Fertility: Journal of the British Fertility Society
https://www.readbyqxmd.com/read/28593997/severe-congenital-neutropenias
#6
REVIEW
Julia Skokowa, David C Dale, Ivo P Touw, Cornelia Zeidler, Karl Welte
Severe congenital neutropenias are a heterogeneous group of rare haematological diseases characterized by impaired maturation of neutrophil granulocytes. Patients with severe congenital neutropenia are prone to recurrent, often life-threatening infections beginning in their first months of life. The most frequent pathogenic defects are autosomal dominant mutations in ELANE, which encodes neutrophil elastase, and autosomal recessive mutations in HAX1, whose product contributes to the activation of the granulocyte colony-stimulating factor (G-CSF) signalling pathway...
June 8, 2017: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/28586256/pediatric-palliative-care-a-five-year-retrospective-chart-review-study
#7
Susan E Thrane, Scott H Maurer, Susan M Cohen, Carol May, Susan M Sereika
BACKGROUND: More children are living with serious illness. However, survival and complexity of illnesses have not been described. OBJECTIVE: To describe types of illnesses, timing of referral, and time to death following referral to palliative care; to examine the associations between demographics and clinical characteristics and patient survival; and to examine whether average daily pain decreases after referral. DESIGN: Retrospective chart review of all children ages 2-16 years referred to palliative care at one large children's hospital during the five-year study period from January 1, 2009, through December 31, 2013...
June 6, 2017: Journal of Palliative Medicine
https://www.readbyqxmd.com/read/28576301/obstetric-and-neonatal-outcomes-of-pregnancies-conceived-after-preimplantation-genetic-diagnosis-cohort-study-and-meta-analysis
#8
Joseph Hasson, Dana Limoni, Mira Malcov, Tsvia Frumkin, Hadar Amir, Tal Shavit, BjØrn Bay, Ariel Many, Benjamin Almog
Preimplantation genetic diagnosis (PGD) may pose risks to pregnancy outcome owing to the invasiveness of the biopsy procedure. This study compares outcome of singleton and twin clinical pregnancies conceived after fresh embryo transfers of PGD (n = 89) and matched intracytoplasmic sperm injection (ICSI) pregnancies (n = 166). The study was carried out in a single university affiliated centre. Because of the paucity of available data, a literature-based meta-analysis of studies comparing neonatal outcome of PGD and ICSI pregnancies was also conducted...
May 18, 2017: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/28561097/dna-preservation-in-silk
#9
Yawen Liu, Zhaozhu Zheng, He Gong, Meng Liu, Shaozhe Guo, Gang Li, Xiaoqin Wang, David L Kaplan
The structure of DNA is susceptible to alterations at high temperature and on changing pH, irradiation and exposure to DNase. Options to protect and preserve DNA during storage are important for applications in genetic diagnosis, identity authentication, drug development and bioresearch. In the present study, the stability of total DNA purified from human dermal fibroblast cells, as well as that of plasmid DNA, was studied in silk protein materials. The DNA/silk mixtures were stabilized on filter paper (silk/DNA + filter) or filter paper pre-coated with silk and treated with methanol (silk/DNA + PT-filter) as a route to practical utility...
May 31, 2017: Biomaterials Science
https://www.readbyqxmd.com/read/28554668/anti-tumor-effects-of-a-human-mouse-cross-reactive-anti-adam17-antibody-in-a-pancreatic-cancer-model-in-vivo
#10
Jie Ye, Shun Ming Yuen, Gillian Murphy, Ruiyu Xie, Hang Fai Kwok
Pancreatic ductal adenocarcinoma (PDAC) is one of the most lethal types of tumor amongst all human cancers due to late diagnosis and resistant to treatment with chemotherapy and radiation. Preclinical and clinical studies have revealed that ErbB family for example epidermal growth factor receptor (EGFR) is a validated molecular target for pancreatic cancer prevention and therapy. The ErbB signaling cascade is regulated by a member of the ADAM (a disintegrin and metalloprotease) family, namely ADAM17, by enzymatic cleavage of precursor ligands into soluble cytokines and growth factors...
May 26, 2017: European Journal of Pharmaceutical Sciences
https://www.readbyqxmd.com/read/28552099/bacteriology-and-treatment-of-infections-in-the-upper-and-lower-airways-in-patients-with-primary-ciliary-dyskinesia-adressing-the-paranasal-sinuses
#11
Mikkel Christian Alanin
The respiratory tract is lined with motile cilia that transport respiratory mucus. Primary ciliary dyskinesia (PCD) is a chronic genetic disease caused by mutations in genes responsible for ciliary structure and function. Non-functional airway cilia impair the mucociliary clearance (MCC), causing mucostasis, lung infections and destruction, chronic rhinosinusitis (CRS) and hearing impairment. It is of paramount importance to postpone chronic lung infection mainly with Gram-negative bacteria (GNB) in patients with an impaired MCC...
May 2017: Danish Medical Journal
https://www.readbyqxmd.com/read/28551500/psychiatric-side-effects-and-antiepileptic-drugs-observations-from-prospective-audits
#12
Linda J Stephen, Abbie Wishart, Martin J Brodie
Psychiatric comorbidities are common in people with epilepsy. A retrospective study of characteristics associated with withdrawal due to psychiatric side effects was undertaken in patients with treated epilepsy participating in prospective audits with new antiepileptic drugs (AEDs). A total of 1058 treated patients with uncontrolled seizures (942 focal-onset seizures, 116 generalized genetic epilepsies [GGEs]) participated in eight prospective, observational audits from 1996 to 2014. These patients were prescribed adjunctive topiramate (n=170), levetiracetam (n=220), pregabalin (n=135), zonisamide (n=203), lacosamide (n=160), eslicarbazepine acetate (n=52), retigabine (n=64), or perampanel (n=54)...
June 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28543356/pre-fibrotic-early-primary-myelofibrosis-vs-who-defined-essential-thrombocythemia-the-impact-of-minor-clinical-diagnostic-criteria-on-the-outcome-of-the-disease
#13
Georg Jeryczynski, Jürgen Thiele, Bettina Gisslinger, Albert Wölfler, Martin Schalling, Andreas Gleiß, Sonja Burgstaller, Veronika Buxhofer-Ausch, Thamer Sliwa, Ernst Schlögl, Klaus Geissler, Maria-Theresa Krauth, Alexander Nader, Michael Vesely, Ingrid Simonitsch-Klupp, Leonhard Müllauer, Christine Beham-Schmid, Heinz Gisslinger
The 2016 revised WHO criteria for the diagnosis of pre-fibrotic/early primary myelofibrosis (pre-PMF) require at least one of the following four borderline expressed minor clinical criteria: anemia, leukocytosis, elevated lactate dehydrogenase and splenomegaly. In this study, we evaluated the relative frequency of these four criteria in a group of 170 pre-PMF patients and compared them to 225 ET cases. More than 91% of pre-PMF cases showed one or more of these features required for diagnosis, by contrast with only 48% of ET patients...
May 20, 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/28532763/nanomaterial-enabled-cancer-therapy
#14
REVIEW
Sabina Quader, Kazunori Kataoka
While cancer remains the major cause of death worldwide, nanomaterial (NM)-based diagnosis and treatment modalities are showing remarkable potential to better tackle clinical oncology by effectively targeting therapeutic agents to tumors. NMs can selectively accumulate in solid tumors, and they can improve the bioavailability and reduce the toxicity of encapsulated cytotoxic agents. Additional noteworthy functions of NMs in cancer treatment include the delivery of contrast agents to image tumor sites, delivery of genetic materials for gene therapy, and co-delivery of multiple agents to achieve combination therapy or simultaneous diagnostic and therapeutic outcomes...
May 19, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28520890/vcf-filter-interactive-prioritization-of-disease-linked-genetic-variants-from-sequencing-data
#15
Heiko Müller, Raul Jimenez-Heredia, Ana Krolo, Tatjana Hirschmugl, Jasmin Dmytrus, Kaan Boztug, Christoph Bock
Next generation sequencing is widely used to link genetic variants to diseases, and it has massively accelerated the diagnosis and characterization of rare genetic diseases. After initial bioinformatic data processing, the interactive analysis of genome, exome, and panel sequencing data typically starts from lists of genetic variants in VCF format. Medical geneticists filter and annotate these lists to identify variants that may be relevant for the disease under investigation, or to select variants that are reported in a clinical diagnostics setting...
May 17, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28518170/prenatal-exome-sequencing-in-anomalous-fetuses-new-opportunities-and-challenges
#16
Neeta L Vora, Bradford Powell, Alicia Brandt, Natasha Strande, Emily Hardisty, Kelly Gilmore, Ann Katherine M Foreman, Kirk Wilhelmsen, Chris Bizon, Jason Reilly, Phil Owen, Cynthia M Powell, Debra Skinner, Christine Rini, Anne D Lyerly, Kim A Boggess, Karen Weck, Jonathan S Berg, James P Evans
PurposeWe investigated the diagnostic and clinical performance of exome sequencing in fetuses with sonographic abnormalities with normal karyotype and microarray and, in some cases, normal gene-specific sequencing.MethodsExome sequencing was performed on DNA from 15 anomalous fetuses and from the peripheral blood of their parents. Parents provided consent to be informed of diagnostic results in the fetus, medically actionable findings in the parents, and their identification as carrier couples for significant autosomal recessive conditions...
May 18, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28516971/salivary-biomarkers-and-proteomics-future-diagnostic-and-clinical-utilities
#17
M Castagnola, E Scarano, G C Passali, I Messana, T Cabras, F Iavarone, G Di Cintio, A Fiorita, E De Corso, G Paludetti
Saliva testing is a non-invasive and inexpensive test that can serve as a source of information useful for diagnosis of disease. As we enter the era of genomic technologies and -omic research, collection of saliva has increased. Recent proteomic platforms have analysed the human salivary proteome and characterised about 3000 differentially expressed proteins and peptides: in saliva, more than 90% of proteins in weight are derived from the secretion of three couples of "major" glands; all the other components are derived from minor glands, gingival crevicular fluid, mucosal exudates and oral microflora...
April 2017: Acta Otorhinolaryngologica Italica
https://www.readbyqxmd.com/read/28513632/how-to-stomach-an-epigenetic-insult-the-gastric-cancer-epigenome
#18
REVIEW
Nisha Padmanabhan, Toshikazu Ushijima, Patrick Tan
Gastric cancer is a deadly malignancy afflicting close to a million people worldwide. Patient survival is poor and largely due to late diagnosis and suboptimal therapies. Disease heterogeneity is a substantial obstacle, underscoring the need for precision treatment strategies. Studies have identified different subgroups of gastric cancer displaying not just genetic, but also distinct epigenetic hallmarks. Accumulating evidence suggests that epigenetic abnormalities in gastric cancer are not mere bystander events, but rather promote carcinogenesis through active mechanisms...
May 17, 2017: Nature Reviews. Gastroenterology & Hepatology
https://www.readbyqxmd.com/read/28494825/prader-willi-syndrome-background-and-management
#19
Ylenia Abdilla, Maria Andria Barbara, Jean Calleja-Agius
The imprinting disorder, Prader-Willi syndrome, is a condition associated with the gene region 15q11.2-q.13. The phenotype includes multiple characteristics, most of which are endocrine-related. An accurate diagnosis is done mostly through pre- or postnatal genetic testing. Management is mainly aimed at correcting the endocrine dysfunctions present in these patients. Genetic testing is also important to distinguish between the different causes and to calculate the recurrence risk for parents with affected children...
May 1, 2017: Neonatal Network: NN
https://www.readbyqxmd.com/read/28484423/evaluation-of-salivary-cytokines-for-diagnosis-of-both-trauma-induced-and-genetic-heterotopic-ossification
#20
Hsiao Hsin Sung Hsieh, Michael T Chung, Ronald M Allen, Kavitha Ranganathan, Joe Habbouche, David Cholok, Jonathan Butts, Arminder Kaura, Ramkumar Tiruvannamalai-Annamalai, Chris Breuler, Caitlin Priest, Shawn J Loder, John Li, Shuli Li, Jan Stegemann, Steven L Kunkel, Benjamin Levi
PURPOSE: Heterotopic ossification (HO) occurs in the setting of persistent systemic inflammation. The identification of reliable biomarkers can serve as an early diagnostic tool for HO, especially given the current lack of effective treatment strategies. Although serum biomarkers have great utility, they can be inappropriate or ineffective in traumatic acute injuries and in patients with fibrodysplasia ossificans progressiva (FOP). Therefore, the goal of this study is to profile the cytokines associated with HO using a different non-invasive source of biomarkers...
2017: Frontiers in Endocrinology
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