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Gene critical care

Simon B Zeichner, Christine Stanislaw, Jane L Meisel
In recent years, we have learned a great deal about pathogenic mutations that increase the risk of breast and ovarian cancer, particularly mutations in the BRCA1 and BRCA2 genes. Here we review current guidelines on breast and ovarian cancer screening, prophylactic surgery, and other risk-reduction strategies in patients with these mutations, and we detail the data that drive these recommendations. We also discuss guidelines on screening and management for other cancers associated with BRCA1 and BRCA2, such as male breast cancer, pancreatic cancer, and prostate cancer...
October 15, 2016: Oncology (Williston Park, NY)
Zehra Ordulu, Tammy Kammin, Harrison Brand, Vamsee Pillalamarri, Claire E Redin, Ryan L Collins, Ian Blumenthal, Carrie Hanscom, Shahrin Pereira, India Bradley, Barbara F Crandall, Pamela Gerrol, Mark A Hayden, Naveed Hussain, Bibi Kanengisser-Pines, Sibel Kantarci, Brynn Levy, Michael J Macera, Fabiola Quintero-Rivera, Erica Spiegel, Blair Stevens, Janet E Ulm, Dorothy Warburton, Louise E Wilkins-Haug, Naomi Yachelevich, James F Gusella, Michael E Talkowski, Cynthia C Morton
In this exciting era of "next-gen cytogenetics," integrating genomic sequencing into the prenatal diagnostic setting is possible within an actionable time frame and can provide precise delineation of balanced chromosomal rearrangements at the nucleotide level. Given the increased risk of congenital abnormalities in newborns with de novo balanced chromosomal rearrangements, comprehensive interpretation of breakpoints could substantially improve prediction of phenotypic outcomes and support perinatal medical care...
October 5, 2016: American Journal of Human Genetics
Béla Z Schmidt, Jérémy B Haaf, Teresinha Leal, Sabrina Noel
Mutations of the CFTR gene cause cystic fibrosis (CF), the most common recessive monogenic disease worldwide. These mutations alter the synthesis, processing, function, or half-life of CFTR, the main chloride channel expressed in the apical membrane of epithelial cells in the airway, intestine, pancreas, and reproductive tract. Lung disease is the most critical manifestation of CF. It is characterized by airway obstruction, infection, and inflammation that lead to fatal tissue destruction. In spite of great advances in early and multidisciplinary medical care, and in our understanding of the pathophysiology, CF is still considerably reducing the life expectancy of patients...
2016: Clinical Pharmacology: Advances and Applications
Allison J Lopatkin, Tatyana A Sysoeva, Lingchong You
Horizontal gene transfer (HGT) is a major mechanism responsible for the spread of antibiotic resistance. Conversely, it is often assumed that antibiotics promote HGT. Careful dissection of the literature, however, suggests a lack of conclusive evidence supporting this notion in general. This is largely due to the lack of well-defined quantitative experiments to address this question in an unambiguous manner. In this review, we discuss the extent to which HGT is responsible for the spread of antibiotic resistance and examine what is known about the effect of antibiotics on the HGT dynamics...
October 4, 2016: BioEssays: News and Reviews in Molecular, Cellular and Developmental Biology
O M Rashid, D Maurente, K Takabe
The process of developing new agents for therapy against breast cancer is inefficient and relies on animal models to screen for efficacy for preclinical studies. However, there has been limited validation of these models, despite the increasing costs in the rapidly growing era of personalized medicine and targeted therapy. Recently, there have been multiple studies which have critically evaluated animal models for breast cancer drug discovery. We recently reviewed the transgenic, xenograft, and syngeneic murine breast cancer models, the ectopic, orthotopic and intravenous methods of cell implantation, tumor gene expression profiles, as well as the ethics of animal experimentation, and we provide important information for investigators in this challenging field...
September 2016: Chemotherapy
Mona Wassef, Mona Abdelhaleim, Doaa Ghaith, Yasmin El-Mahdy
New Delhi metallo-β-lactamase (NDM) compromises the efficacy of almost all β-lactam antibiotics, including carbapenems. This study aimed to screen for the blaNDM-1-type gene and NDM-1-type carbapenemase production among Gram-negative bacteria in Cairo University Pediatric Hospital (Cairo, Egypt). Among 382 Gram-negative clinical isolates collected over the period October 2013 to May 2014, 100 clinical isolates showing reduced carbapenem (imipenem and meropenem) susceptibility were included in this study. Initial phenotypic screening for NDM enzyme production was performed by Etest for metallo-β-lactamases (EMBL)...
September 19, 2016: Journal of Global Antimicrobial Resistance
Alan J Fox, Matthew C Hiemenz, David B Lieberman, Shrey Sukhadia, Barnett Li, Joseph Grubb, Patrick Candrea, Karthik Ganapathy, Jianhua Zhao, David Roth, Evan Alley, Alison Loren, Jennifer J D Morrissette
As our understanding of the driver mutations necessary for initiation and progression of cancers improves, we gain critical information on how specific molecular profiles of a tumor may predict responsiveness to therapeutic agents or provide knowledge about prognosis. At our institution a tumor genotyping program was established as part of routine clinical care, screening both hematologic and solid tumors for a wide spectrum of mutations using two next-generation sequencing (NGS) panels: a custom, 33 gene hematological malignancies panel for use with peripheral blood and bone marrow, and a commercially produced solid tumor panel for use with formalin-fixed paraffin-embedded tissue that targets 47 genes commonly mutated in cancer...
September 20, 2016: Journal of Visualized Experiments: JoVE
Andrew Rankin, Samuel J Klempner, Rachel Erlich, James X Sun, Axel Grothey, Marwan Fakih, Thomas J George, Jeeyun Lee, Jeffrey S Ross, Philip J Stephens, Vincent A Miller, Siraj M Ali, Alexa B Schrock
INTRODUCTION: A KRAS mutation represented the first genomic biomarker to predict lack of benefit from anti-epidermal growth factor receptor (EGFR) antibody therapy in advanced colorectal cancer (CRC). Expanded RAS testing has further refined the treatment approach, but understanding of genomic alterations underlying primary and acquired resistance is limited and further study is needed. MATERIALS AND METHODS: We prospectively analyzed 4,422 clinical samples from patients with advanced CRC, using hybrid-capture based comprehensive genomic profiling (CGP) at the request of the individual treating physicians...
September 28, 2016: Oncologist
Cynthia Yu-Wai-Man, Peng Tee Khaw
Significance: Fibrosis-related events play a part in the pathogenesis or failure of treatment of virtually all the blinding diseases around the world, and also account for over 40% of all deaths. It is well established that the eye and other tissues of some group of patients, for example Afro-Caribbean people, scar worse than others. However, there is a current lack of reliable biomarkers to stratify the risk of scarring and postsurgical fibrosis in the eye. Recent Advances: Recent studies using genomics, proteomics, metabolomics, clinical phenotyping, and high-resolution in vivo imaging techniques have revealed potential novel biomarkers to identify and stratify patients at risk of scarring in different fibrotic eye diseases...
September 1, 2016: Advances in Wound Care
D Kholod, D Shkurupii, E Sonnik
Newborns in critical conditions, because of the natureof the immune system, have the greatest risk of realization of immune deficiency, especially with gastrointestinal failure. We analyzed 44 cases of diseases in newborns in critical conditions and 20 cases without and studied the clinical and laboratory signs of immunological disorders, organpathology, gene expressionToll-likereceptor type 2. In newborns requiring intensive care, the frequency of gastrointestinal failure registration in 40,9%. Gastrointestinal failure leads to increased amounts of other affected systems, severity of systemic inflammation, gene expressionToll-likereceptor type 2, a marker of apoptosis of lymphocytes-CD95+, inhibition lymphocyte germ of immune system due to fraction of CD4+,the severity of the clinical condition...
July 2016: Georgian Medical News
Francelli Cordeiro Neves, Wanessa T Clemente, Nilton Lincopan, Isabela D Paião, Patrícia R Neves, Roberta M Romanelli, Stella S S Lima, Luciene F Paiva, Paulo Henrique O Mourão, Vandack A Nobre-Junior
BACKGROUND: Carbapenem-resistant Acinetobacter baumannii (CRAb) is an important cause of nosocomial infections especially in intensive care units (ICUs). This study aimed to assess clinical aspects and the genetic background of CRAb among ICU patients at a Brazilian teaching hospital. METHODS: 56 critically ill patients colonized or infected by CRAb, during ICU stay, were prospectively assessed. Based on imipenem MIC≥4μg/mL, 28 CRAB strains were screened for the presence of genes encoding metallo-β-lactamases (MβLs) and OXA-type β-lactamases...
September 9, 2016: Brazilian Journal of Infectious Diseases
Frederick P Ghandchi, Gustavo Caetano-Anolles, Steven J Clough, Donald R Ort
Chlorophyll degradation is an intricate process that is critical in a variety of plant tissues at different times during the plant life cycle. Many of the photoactive chlorophyll degradation intermediates are exceptionally cytotoxic necessitating that the pathway be carefully coordinated and regulated. The primary regulatory step in the chlorophyll degradation pathway involves the enzyme pheophorbide a oxygenase (PAO), which oxidizes the chlorophyll intermediate pheophorbide a, that is eventually converted to non-fluorescent chlorophyll catabolites...
2016: PloS One
Oriella Andresini, Agnese Ciotti, Marianna N Rossi, Cecilia Battistelli, Mariarosaria Carbone, Rossella Maione
The cdk inhibitor p57(kip2), encoded by the Cdkn1c gene, plays a critical role in mammalian development and in the differentiation of several tissues. Cdkn1c protein levels are carefully regulated via imprinting and other epigenetic mechanisms affecting both the promoter and distant regulatory elements, which restrict its expression to particular developmental phases or specific cell types. Inappropriate activation of these regulatory mechanisms leads to Cdkn1c silencing, causing growth disorders and cancer...
September 9, 2016: Epigenetics: Official Journal of the DNA Methylation Society
Rebecca C Ahrens-Nicklas, Shama Khan, Jennifer Garbarini, Stacy Woyciechowski, Lisa D'Alessandro, Elaine H Zackai, Matthew A Deardorff, Elizabeth Goldmuntz
Congenital heart defects (CHDs) are heterogeneous and present with a spectrum of severity, with roughly 25% of patients requiring intervention before age 1. The etiology of disease is unknown in many individuals; however, there is a rapidly expanding understanding of genetic risk factors that may contribute to pathogenesis. Through this work, we sought to evaluate the diagnostic yield of a clinical genetics evaluation and associated genetic testing among infants with critical CHDs. Furthermore, we aimed to both determine the utility of microarray and establish a strong baseline that can be used in future studies of the impact of exome sequencing in this population...
September 8, 2016: American Journal of Medical Genetics. Part A
Shuichi Ozono, Miho Mitsuo, Maiko Noguchi, Shin-Ichiro Nakagawa, Koichiro Ueda, Hiroko Inada, Shouichi Ohga, Etsuro Ito
Diamond-Blackfan anemia (DBA) is a rare congenital disorder characterized by pure erythrocyte aplasia, and approximately 70% of patients carry mutations in the genes encoding ribosomal proteins (RP). Here, we report the case of a male infant with DBA who presented with anemic crisis (hemoglobin [Hb] concentration 1.5 g/dL) at 58 days after birth. On admission, the infant was pale and had tachypnea, but recovered with intensive care, including red blood cell transfusions, and prednisolone. Based on the clinical diagnosis of DBA, the father of the infant had cyclosporine-A-dependent anemia...
September 2016: Pediatrics International: Official Journal of the Japan Pediatric Society
Suk-Kyung Lim, Dong-Chan Moon, Myung Hwa Chae, Hae Ji Kim, Hyang-Mi Nam, Su-Ran Kim, Gum-Chan Jang, Kichan Lee, Suk-Chan Jung, Hee-Soo Lee
Resistance to antimicrobials was measured in 73 isolates of Campylobacter jejuni (C. jejuni) and 121 isolates of Campylobacter coli (C. coli) from chicken and swine feces and carcasses in Korea. Both bacterial species showed the highest resistance to (fluoro) quinolones (ciprofloxacin and nalidixic acid) out of the nine antimicrobials tested. Erythromycin resistance was much higher in C. coli (19.0%, 23/121) than in C. jejuni (6.8%, 5/73). The mutation in the 23S rRNA gene was primarily responsible for macrolide resistance in Campylobacter isolates...
September 2, 2016: Journal of Veterinary Medical Science
Emily Youngblom, Mitzi Leah Murray, Peter H Byers
Genetic testing can be used to determine if unexplained fractures in children could have resulted from a predisposition to bone fractures, e.g., osteogenesis imperfecta. However, uncertainty is introduced if a variant of unknown significance (VUS) is identified. Proper interpretation of VUS in these situations is critical because of its influence on clinical care and in court rulings. This study sought to understand how VUS are interpreted and used by practitioners when there is a differential diagnosis including both osteogenesis imperfecta and non-accidental injury...
September 2016: Journal of Law, Medicine & Ethics: a Journal of the American Society of Law, Medicine & Ethics
Hubert D-J Daniel, Joel David, Sukanya Raghuraman, Manu Gnanamony, George M Chandy, Gopalan Sridharan, Priya Abraham
BACKGROUND: Based on genetic heterogeneity, hepatitis C virus (HCV) is classified into seven major genotypes and 64 subtypes. In spite of the sequence heterogeneity, all genotypes share an identical complement of colinear genes within the large open reading frame. The genetic interrelationships between these genes are consistent among genotypes. Due to this property, complete sequencing of the HCV genome is not required. HCV genotypes along with subtypes are critical for planning antiviral therapy...
September 1, 2016: Journal of Clinical Laboratory Analysis
Jihae Han, Hye Yeon Choi, Ahmed Abdal Dayem, Kyeongseok Kim, Gwangmo Yang, Jihye Won, Sun Hee Do, Jin-Hoi Kim, Kyu-Shik Jeong, Ssang-Goo Cho
Studies on adipogenesis may be important for regulating human and/or animal obesity, which causes several complications such as, type II diabetes, hypertension, and cardiovascular disease, thus giving rise to increased economic burden in many countries. Previous reports revealed that various flavonoids have anti-apoptotic, antioxidant, and cell differentiation-regulating activities with a number of physiological benefits, including protection from cardiovascular disease, cancers, and oxidative stress. As we found that the hydroxylation patterns of the flavonoid B ring are known to play a critical role in their function, we screened several flavonoids containing different numbers and positions of OH substitutions in B ring for their modulatory property on adipogenesis...
August 31, 2016: Journal of Cellular Biochemistry
David M Faleck, Hojjat Salmasian, E Yoko Furuya, Elaine L Larson, Julian A Abrams, Daniel E Freedberg
OBJECTIVES: Patients in the intensive care unit (ICU) frequently receive proton pump inhibitors (PPIs) and have high rates of Clostridium difficile infection (CDI). PPIs have been associated with CDI in hospitalized patients, but ICU patients differ fundamentally from non-ICU patients and few studies have focused on PPI use exclusively in the critical care setting. We performed a retrospective cohort study to determine the associations between PPIs and health-care facility-onset CDI in the ICU...
August 30, 2016: American Journal of Gastroenterology
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