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https://www.readbyqxmd.com/read/28329640/diagnostic-parameters-of-children-with-basal-cell-carcinoma-nevus-syndrome
#1
Fariha T Siddiqui
Basal Cell Carcinoma Nevus Syndrome (BCCNS) is a multi-system genetic disease characterized by the development of multiple basal cell carcinomas (BCCs), macrocephaly, medulloblastomas, jaw keratocysts, and coarse facial features, amongst other symptoms. The major and minor criteria for adults with BCCNS are often extrapolated for children, however, little is known about the disease presentation of children with BCCNS. Our study focused on bringing the pediatric presentation of BCCNS to light. To the best of our knowledge, we are the first to investigate BCCNS and its medical impact on children...
September 15, 2016: Dermatology Online Journal
https://www.readbyqxmd.com/read/28328947/a-spontaneous-mutation-in-kdsd-a-biosynthesis-gene-for-3-deoxy-d-manno-octulosonic-acid-occurred-in-a-ciprofloxacin-resistant-strain-of-francisella-tularensis-and-caused-a-high-level-of-attenuation-in-murine-models-of-tularemia
#2
Taylor Chance, Jennifer Chua, Ronald G Toothman, Jason T Ladner, Jonathan E Nuss, Jo Lynne Raymond, Fabrice V Biot, Samandra Demons, Lynda Miller, Stephanie Halasohoris, Sherry Mou, Galina Koroleva, Sean Lovett, Gustavo Palacios, Nicholas J Vietri, Patricia L Worsham, Christopher K Cote, Todd M Kijek, Joel A Bozue
Francisella tularensis, a gram-negative facultative intracellular bacterial pathogen, is the causative agent of tularemia and able to infect many mammalian species, including humans. Because of its ability to cause a lethal infection, low infectious dose, and aerosolizable nature, F. tularensis subspecies tularensis is considered a potential biowarfare agent. Due to its in vitro efficacy, ciprofloxacin is one of the antibiotics recommended for post-exposure prophylaxis of tularemia. In order to identify therapeutics that will be efficacious against infections caused by drug resistant select-agents and to better understand the threat, we sought to characterize an existing ciprofloxacin resistant (CipR) mutant in the Schu S4 strain of F...
2017: PloS One
https://www.readbyqxmd.com/read/28328129/the-phenotypic-spectrum-of-congenital-zika-syndrome
#3
Miguel Del Campo, Ian M L Feitosa, Erlane M Ribeiro, Dafne D G Horovitz, André L S Pessoa, Giovanny V A França, Alfredo García-Alix, Maria J R Doriqui, Hector Y C Wanderley, Maria V T Sanseverino, João I C F Neri, João M Pina-Neto, Emerson S Santos, Islane Verçosa, Mirlene C S P Cernach, Paula F V Medeiros, Saile C Kerbage, André A Silva, Vanessa van der Linden, Celina M T Martelli, Marli T Cordeiro, Rafael Dhalia, Fernanda S L Vianna, Cesar G Victora, Denise P Cavalcanti, Lavinia Schuler-Faccini
In October 2015, Zika virus (ZIKV) outbreak the Brazilian Ministry of Health (MoH). In response, the Brazilian Society of Medical Genetics established a task force (SBGM-ZETF) to study the phenotype of infants born with microcephaly due to ZIKV congenital infection and delineate the phenotypic spectrum of this newly recognized teratogen. This study was based on the clinical evaluation and neuroimaging of 83 infants born during the period from July, 2015 to March, 2016 and registered by the SBGM-ZETF. All 83 infants had significant findings on neuroimaging consistent with ZIKV congenital infection and 12 had confirmed ZIKV IgM in CSF...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28328109/a-cohort-study-of-gorlin-syndrome-with-emphasis-on-standardised-phenotyping-and-quality-of-life-assessment
#4
Aamira J Huq, Michael Bogwitz, Alexandra Gorelik, Ingrid M Winship, Susan M White, Alison H Trainer
BACKGROUND: Gorlin syndrome (Nevoid Basal Cell Carcinoma Syndrome) is a rare genetic predisposition to basal cell carcinomas (BCCs), keratocysts of the jaw and calcification of the falx cerebri amongst other clinical features. With the advent of sonic hedgehog inhibitors for the treatment of BCCs, it is timely to establish a cohort of individuals with Gorlin syndrome and collect standardised phenotypic information on these individuals. Moreover, the health-related quality of life (QoL) in individuals with Gorlin syndrome is not well studied...
March 22, 2017: Internal Medicine Journal
https://www.readbyqxmd.com/read/28327894/statistical-controversies-in-clinical-research-overlap-and-errors-in-the-meta-analyses-of-microrna-genetic-association-studies-in-cancers
#5
J H Park, M Eisenhut, H J Vliet, J I Shin
Background: : Various errors in the design, conduct, and analysis of medical and public health research studies can produce false results and waste valuable resources. While systematic reviews and meta-analyses are arguably considered the most dependable source of evidence-based medicine, increasing numbers of studies are indicating that, on the contrary to the public's belief, many of these investigations are redundant, erroneous, and even biased. Methods: 94 meta-analyses on microRNA polymorphism and risk of cancer were extracted from Pubmed database on August 2016...
January 24, 2017: Annals of Oncology: Official Journal of the European Society for Medical Oncology
https://www.readbyqxmd.com/read/28327790/association-of-nr1i2-gene-polymorphisms-and-time-of-progression-to-aids
#6
Rúbia Marília de Medeiros, Carolina Fialho Menti, Jéssica Louise Benelli, Maria Cristina Cotta Matte, Marineide Gonçalves de Melo, Sabrina Esteves de Matos Almeida, Marilu Fiegenbaum
BACKGROUND: The time of progression towards AIDS can vary greatly among seropositive patients, and may be associated with host genetic variation. The NR1I2 (PXR) gene, a ligand-activated transcription factor, regulates the transcription immune pathway genes and can therefore be targets of viral replication mechanisms influencing time of progression to AIDS. OBJECTIVE: To verify the association of single nucleotide polymorphisms (SNPs) rs3814057, rs6785049, rs7643645, and rs2461817 in the NR1I2 (PXR) gene with progression to AIDS in HIV-1 infected patients...
April 2017: Memórias do Instituto Oswaldo Cruz
https://www.readbyqxmd.com/read/28327574/from-older-to-younger-intergenerational-promotion-of-health-behaviours-in-portuguese-families-affected-by-familial-amyloid-polyneuropathy
#7
Carla Roma Oliveira, Alvaro Mendes, Liliana Sousa
The role of older generations in families with hereditary diseases has been recognised and associated to their function as guardians of the family's medical history. However, research is scarce in examining the roles that older generations play in terms of health promotion and risk management towards younger generations, which is particularly evident with incurable genetically inherited disorders such as familial amyloid polyneuropathy (FAP) ATTR Val30Met. This qualitative exploratory study examines the roles that older generations play towards younger generations, in terms of health promotion and risk management, in families with FAP...
March 22, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28326470/targeted-treatment-of-brain-metastases
#8
REVIEW
Nicole Shonka, Vyshak Alva Venur, Manmeet S Ahluwalia
PURPOSE OF REVIEW: Brain metastases are the most common intracranial tumors in adults. Historically, the median survival after the diagnosis of brain metastases has been dismal and medical therapies had a limited role in the management of these patients. RECENT FINDINGS: The advent of targeted therapy has ushered in an era of increased hope for patients with brain metastases. The most common malignancies that result in brain metastases-melanoma, lung cancer, and breast cancer, often have actionable mutations, which make them good candidates for targeted systemic therapy...
April 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28326446/blastocystis-how-do-specific-diets-and-human-gut-microbiota-affect-its-development-and-pathogenicity
#9
REVIEW
M Lepczyńska, J Białkowska, E Dzika, K Piskorz-Ogórek, J Korycińska
Blastocystis is an enteric parasite that inhabits the gastrointestinal tract of humans and many animals. This emerging parasite has a worldwide distribution. It is often identified as the most common eukaryotic organism reported in human fecal samples. This parasite is recognized and diagnosed more often than ever before. Furthermore, some strains develop resistance against currently recommended drugs, such as metronidazole; therefore, the use of natural remedies or special diets has many positive aspects that may address this problem...
March 22, 2017: European Journal of Clinical Microbiology & Infectious Diseases
https://www.readbyqxmd.com/read/28325641/spectrum-of-nondystrophic-skeletal-muscle-channelopathies-in-children
#10
Fouad Al-Ghamdi, Basil T Darras, Partha S Ghosh
BACKGROUND: The nondystrophic skeletal muscle channelopathies are a group of disorders caused by mutations of various voltage-gated ion channel genes, including nondystrophic myotonia and periodic paralysis. METHODS: We identified patients with a diagnosis of muscle channelopathy from our neuromuscular database in a tertiary care pediatric center from 2005 to 2015. We then performed a retrospective review of their medical records for demographic characteristics, clinical features, investigations, treatment, and follow-up...
February 16, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28324302/huntington-s-disease-update-on-treatments
#11
REVIEW
Kara J Wyant, Andrew J Ridder, Praveen Dayalu
Huntington's disease (HD) is an autosomal dominantly inherited neurodegenerative disease characterized by progressive motor, behavioral, and cognitive decline, ending in death. Despite the discovery of the underlying genetic mutation more than 20 years ago, treatment remains focused on symptomatic management. Chorea, the most recognizable symptom, responds to medication that reduces dopaminergic neurotransmission. Psychiatric symptoms such as depression and anxiety may also respond well to symptomatic therapies...
April 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28324015/paternally-inherited-dlk1-deletion-associated-with-familial-central-precocious-puberty
#12
Andrew Dauber, Marina Cunha-Silva, Delanie B Macedo, Vinicius N Brito, Ana Paula Abreu, Stephanie A Roberts, Luciana R Montenegro, Melissa Andrew, Andrew Kirby, Matthew T Weirauch, Guillaume Labilloy, Danielle S Bessa, Rona S Carroll, Dakota C Jacobs, Patrick E Chappell, Berenice B Mendonca, David Haig, Ursula B Kaiser, Ana Claudia Latronico
Context: Central precocious puberty (CPP) results from premature activation of the hypothalamic-pituitary-gonadal axis. Few genetic causes of CPP have been identified with the most common being mutations in the paternally expressed imprinted gene MKRN3. Objective: To identify the genetic etiology of CPP in a large multigenerational family. Design: Linkage analysis followed by whole genome sequencing was performed in a family with 5 female members with nonsyndromic CPP...
January 27, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28323747/supporting-a-youth-with-cerebellar-ataxia-into-adolescence
#13
Veronica Meneses, Zurisadai Gonzalez-Castillo, Veronica B Edgar, Marilyn Augustyn
Zoe, a 13-year-old white girl, presents as a new patient to your pediatric clinic with complaints of frequent emesis, anxiety, and learning problems, and previous diagnosis of cerebellar ataxia. Parents accompany Zoe and state, "it is really hard for her to go out, she gets sick and falls easily." She was born full term by vaginal delivery without complications. Given globally delayed milestones, she received early intervention services. Feeding problems began at infancy, including gastroesophageal reflux and aspiration pneumonia...
March 17, 2017: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/28323373/the-impact-of-mental-illness-on-uptake-of-genetic-counseling-for-hereditary-breast-cancer-and-ovarian-cancer-in-a-multiethnic-cohort-of-breast-cancer-patients
#14
Marra G Ackerman, Peter A Shapiro, Austin Coe, Meghna S Trivedi, Katherine D Crew
We evaluated whether mental illness is a barrier to genetic counseling for hereditary breast and ovarian cancer (HBOC) in multiethnic breast cancer patients. We conducted a retrospective analysis of 308 women with newly diagnosed breast cancer and eligible for HBOC genetic testing seen in the breast clinic of an academic, urban medical center from 2007 to 2015. Uptake of genetic services and history of mental health disorder (MHD), defined as a psychiatric diagnosis or treatment with an antidepressant, mood stabilizer, anxiolytic, or antipsychotic medication, were ascertained by medical chart review...
March 21, 2017: Breast Journal
https://www.readbyqxmd.com/read/28322578/interview-with-amr-h-sawalha-epigenetics-and-autoimmunity
#15
Amr H Sawalha
Amr H Sawalha is Professor of Internal Medicine and Marvin and Betty Danto Research Professor of Connective Tissue Research at the University of Michigan, Department of Internal Medicine, Division of Rheumatology. He also holds faculty appointments at the Center for Computational Medicine and Bioinformatics and the Graduate Program in Immunology at the University of Michigan. He was recently appointed as Guest Professor at Central South University in Changsha, China. He received his medical degree from Jordan University of Science and Technology and completed his residency training in internal medicine at the University of Oklahoma Health Sciences Center, and his fellowship in rheumatology at the University of Michigan...
March 21, 2017: Epigenomics
https://www.readbyqxmd.com/read/28322279/pluripotent-stem-cells-in-neuropsychiatric-disorders
#16
REVIEW
M A Soliman, F Aboharb, N Zeltner, L Studer
Neuropsychiatric disorders place an enormous medical burden on patients across all social and economic ranks. The current understanding of the molecular and cellular causes of neuropsychiatric disease remains limited, which leads to a lack of targeted therapies. Human-induced pluripotent stem cell (iPSC) technology offers a novel platform for modeling the genetic contribution to mental disorders and yields access to patient-specific cells for drug discovery and personalized medicine. Here, we review recent progress in using iPSC technology to model and potentially treat neuropsychiatric disorders by focusing on the most prevalent conditions in psychiatry, including depression, anxiety disorders, bipolar disorder and schizophrenia...
March 21, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28321259/evaluation-of-three-devices-for-the-isolation-of-the-stromal-vascular-fraction-from-adipose-tissue-and-for-asc-culture-a-comparative-study
#17
Jonathan Rodriguez, Anne-Sophie Pratta, Nacira Abbassi, Hugo Fabre, Fanny Rodriguez, Cyrille Debard, Jacqueline Adobati, Fabien Boucher, Frédéric Mallein-Gerin, Céline Auxenfans, Odile Damour, Ali Mojallal
Adipose-derived stem/stromal cells (ASCs) reside in the stromal vascular fraction (SVF) of adipose tissue (AT) and can be easily isolated. However, extraction of the SVF from lipoaspirate is a critical step in generating ASC, and semiautomated devices have been developed to enhance the efficacy and reproducibility of the outcomes and to decrease manipulation and contamination. In this study, we compared the reference method used in our lab for SVF isolation from lipoaspirate, with three medical devices: GID SVF-1™, Puregraft™, and Stem...
2017: Stem Cells International
https://www.readbyqxmd.com/read/28321022/administration-of-ticagrelor-and-double-dose-clopidogrel-based-on-platelet-reactivity-determined-by-verifynow-p2y12-for-chinese-subjects-after-elective-pci
#18
Xi Wu, Gang Liu, Jie Lu, Xin-Xin Zheng, Jin-Gang Cui, Xue-Yan Zhao, Xiao-Hong Huang
Previous studies have identified high on treatment platelet reactivity (HTPR) as a potent factor predicting ischemic events for patients with coronary heart disease. We assessed the efficacy and safety of ticagrelor (90 mg twice-daily) and double-dose of clopidogrel (150 mg once-daily) among Chinese patients for elective percutaneous coronary intervention. We enrolled 40 patients with HTPR from among 317 patients with non-ST-segment elevation acute coronary syndromes after a successful elective percutaneous coronary intervention (PCI)...
March 17, 2017: International Heart Journal
https://www.readbyqxmd.com/read/28320117/use-of-social-media-to-assess-the-effectiveness-of-vagal-nerve-stimulation-in-dravet-syndrome-a-caregiver-s-perspective
#19
Rushna Ali, Mona Elsayed, Manpreet Kaur, Ellen Air, Naznin Mahmood, Jules Constantinou, Jason Schwalb
BACKGROUND: Dravet syndrome (DS) is a rare genetic epilepsy syndrome which is particularly pharmacoresistant. Vagus nerve stimulation (VNS) is commonly used in the treatment of DS as an adjunct to medical therapy. A meaningful assessment of post-surgical outcomes with VNS is difficult given the rarity of the condition. OBJECTIVE: In a novel approach, we used social media to contact patients with DS to gather data on post-surgical seizure reduction and overall satisfaction with VNS...
April 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28319560/rash-diagnostics-an-update-on-the-diagnosis-of-allergic-rashes
#20
Corinne Savides Happel
PURPOSE OF REVIEW: The purpose of this review is to summarize recent research regarding the diagnosis of allergic rashes and to suggest future directions for the promotion of accurate diagnosis and endotype specification. RECENT FINDINGS: Multiple cohort studies demonstrate that with appropriate clinical evaluation, drug allergy labels can be removed in up to 90% of cases. Genetic tests can predict severe adverse cutaneous drug reactions in some cases and in vitro tests are being sought to identify causative drugs in others...
March 17, 2017: Current Opinion in Pediatrics
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