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https://www.readbyqxmd.com/read/29351036/crouzon-with-acanthosis-nigricans-and-odontogenic-tumors-a-rare-form-of-syndromic-craniosynostosis
#1
Wen Xu, Donna M McDonald-McGinn, Alexandra J Melchiorre, Elaine H Zackai, Scott P Bartlett, Jesse A Taylor
Crouzon syndrome with acanthosis nigricans (CAN) is caused by a mutation in the fibroblast growth factor receptor ( FGFR) 3 gene that presents clinically as Crouzonoid craniofacial features in association with other anomalies such as acanthosis nigricans and benign odontogenic tumors. Diagnosis through the use of genetic mutational analysis is critical, as it alerts the surgeon to the need for careful screening for jaw tumors so that timely treatment in the form of curettage or segmental resection can be provided...
February 2018: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/29349709/the-host-response-in-critically-ill-sepsis-patients-on-statin-therapy-a-prospective-observational-study
#2
Maryse A Wiewel, Brendon P Scicluna, Lonneke A van Vught, Arie J Hoogendijk, Aeilko H Zwinderman, René Lutter, Janneke Horn, Olaf L Cremer, Marc J Bonten, Marcus J Schultz, Tom van der Poll
BACKGROUND: Statins can exert pleiotropic anti-inflammatory, vascular protective and anticoagulant effects, which in theory could improve the dysregulated host response during sepsis. We aimed to determine the association between prior statin use and host response characteristics in critically ill patients with sepsis. METHODS: We performed a prospective observational study in 1060 patients admitted with sepsis to the mixed intensive care units (ICUs) of two hospitals in the Netherlands between January 2011 and July 2013...
January 18, 2018: Annals of Intensive Care
https://www.readbyqxmd.com/read/29342053/gradual-symmetric-progression-of-dfna34-hearing-loss-caused-by-an-nlrp3-mutation-and-cochlear-autoinflammation
#3
Hiroshi Nakanishi, Yoshiyuki Kawashima, Kiyoto Kurima, Julie A Muskett, H Jeffrey Kim, Carmen C Brewer, Andrew J Griffith
OBJECTIVE: To characterize the audiometric phenotype of autosomal-dominant DFNA34 hearing loss (HL) caused by a missense substitution in the NLRP3 gene. NLRP3 encodes a critical component of the NLRP3 inflammasome that is activated in innate immune responses. STUDY DESIGN: This study was conducted under protocol 01-DC-0229 approved by the NIH Combined Neurosciences IRB. We performed medical and developmental history interviews and physical and audiological examinations of affected individuals with DFNA34 HL caused by the p...
January 16, 2018: Otology & Neurotology
https://www.readbyqxmd.com/read/29331712/genetic-biomarkers-for-differential-diagnosis-of-major-depressive-disorder-and-bipolar-disorder-a-systematic-and-critical-review
#4
REVIEW
Itiana Castro Menezes, Cristiane von Werne Baes, Riccardo Lacchini, Mario Francisco Juruena
Depressive symptoms are present in the depressive mood state of bipolar disorder (BPD) and major depression disorder (MDD). Often, in clinical practice, BPD patients are misdiagnosed with MDD. Therefore, genetic biomarkers could contribute to the improvement of differential diagnosis between BPD and MDD. This systematic and critical review aimed to find in literature reliable genetic biomarkers that may show differences between BPD and MDD. This systematic review followed the PRISMA-P method. The terms used to search PubMed, Scopus, PsycINFO, and Web of Science were depress*, bipolar, diagnos*, genetic*, biomark*...
January 10, 2018: Behavioural Brain Research
https://www.readbyqxmd.com/read/29331482/genetic-basis-of-hearing-loss-in-spanish-hispanic-and-latino-populations
#5
REVIEW
Rahul Mittal, Amit P Patel, Desiree Nguyen, Debbie R Pan, Vasanti M Jhaveri, Jason R Rudman, Arjuna Dharmaraja, Denise Yan, Yong Feng, Prem Chapagain, David J Lee, Susan H Blanton, Xue Zhong Liu
Hearing loss (HL) is the most common neurosensory disorder affecting humans. The screening, prevention and treatment of HL require a better understanding of the underlying molecular mechanisms. Genetic predisposition is one of the most common factors that leads to HL. Most HL studies include few Spanish, Hispanic and Latino participants, leaving a critical gap in our understanding about the prevalence, impact, unmet health care needs, and genetic factors associated with hearing impairment among Spanish, Hispanic and Latino populations...
January 10, 2018: Gene
https://www.readbyqxmd.com/read/29320720/simultaneous-emergence-and-rapid-spread-of-three-oxa-23-producing-acinetobacter-baumannii-st208-strains-in-intensive-care-units-confirmed-by-whole-genome-sequencing
#6
Qiong Chen, Jia-Wei Zhou, Jian-Zhong Fan, Sheng-Hai Wu, Li-Hui Xu, Yan Jiang, Zhi Ruan, Yun-Song Yu, Dao-Jun Yu, Xian-Jun Wang
Carbapenem-resistant Acinetobacter baumannii (CRAB) is a common nosocomial bacterial pathogen with limited treatment options. CRAB outbreaks are disastrous for critically ill patients. This study investigated carbapenemase-produced A. baumannii outbreaks in a tertiary hospital. Although multiple outbreaks were suggested by pulse-field gel electrophoresis, the genetic lineages and evolution between these isolates were not clear. To investigate the genomic epidemiology of these outbreaks and to reveal possible transmission routes, whole genome sequences (WGS) were compared and analyzed...
January 8, 2018: Infection, Genetics and Evolution
https://www.readbyqxmd.com/read/29300372/adaptation-and-validation-of-the-acmg-amp-variant-classification-framework-for-myh7-associated-inherited-cardiomyopathies-recommendations-by-clingen-s-inherited-cardiomyopathy-expert-panel
#7
Melissa A Kelly, Colleen Caleshu, Ana Morales, Jillian Buchan, Zena Wolf, Steven M Harrison, Stuart Cook, Mitchell W Dillon, John Garcia, Eden Haverfield, Jan D H Jongbloed, Daniela Macaya, Arjun Manrai, Kate Orland, Gabriele Richard, Katherine Spoonamore, Matthew Thomas, Kate Thomson, Lisa M Vincent, Roddy Walsh, Hugh Watkins, Nicola Whiffin, Jodie Ingles, J Peter van Tintelen, Christopher Semsarian, James S Ware, Ray Hershberger, Birgit Funke
PurposeIntegrating genomic sequencing in clinical care requires standardization of variant interpretation practices. The Clinical Genome Resource has established expert panels to adapt the American College of Medical Genetics and Genomics/Association for Molecular Pathology classification framework for specific genes and diseases. The Cardiomyopathy Expert Panel selected MYH7, a key contributor to inherited cardiomyopathies, as a pilot gene to develop a broadly applicable approach.MethodsExpert revisions were tested with 60 variants using a structured double review by pairs of clinical and diagnostic laboratory experts...
January 4, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29280295/emerging-roles-of-rna-binding-proteins-in-diabetes-and-their-therapeutic-potential-in-diabetic-complications
#8
REVIEW
Curtis A Nutter, Muge N Kuyumcu-Martinez
Diabetes is a debilitating health care problem affecting 422 million people around the world. Diabetic patients suffer from multisystemic complications that can cause mortality and morbidity. Recent advancements in high-throughput next-generation RNA-sequencing and computational algorithms led to the discovery of aberrant posttranscriptional gene regulatory programs in diabetes. However, very little is known about how these regulatory programs are mis-regulated in diabetes. RNA-binding proteins (RBPs) are important regulators of posttranscriptional RNA networks, which are also dysregulated in diabetes...
December 27, 2017: Wiley Interdisciplinary Reviews. RNA
https://www.readbyqxmd.com/read/29276776/periodontitis-in-ch%C3%A3-diak-higashi-syndrome-an-altered-immunoinflammatory-response
#9
V Thumbigere Math, P Rebouças, P A Giovani, R M Puppin-Rontani, R Casarin, L Martins, L Wang, K Krzewski, W J Introne, M J Somerman, F H Nociti, K R Kantovitz
Chédiak-Higashi syndrome (CHS), a rare autosomal recessive disorder caused by mutations in the lysosomal trafficking regulator gene (LYST), is associated with aggressive periodontitis. It is suggested that LYST mutations affect the toll-like receptor (TLR)-mediated immunoinflammatory response, leading to frequent infections. This study sought to determine the periodontal status of patients with classic (severe) and atypical (milder) forms of CHS and the immunoregulatory functions of gingival fibroblasts in CHS patients...
January 2018: JDR Clinical and Translational Research
https://www.readbyqxmd.com/read/29214566/improved-diagnosis-and-care-for-rare-diseases-through-implementation-of-precision-public-health-framework
#10
Gareth Baynam, Faye Bowman, Karla Lister, Caroline E Walker, Nicholas Pachter, Jack Goldblatt, Kym M Boycott, William A Gahl, Kenjiro Kosaki, Takeya Adachi, Ken Ishii, Trinity Mahede, Fiona McKenzie, Sharron Townshend, Jennie Slee, Cathy Kiraly-Borri, Anand Vasudevan, Anne Hawkins, Stephanie Broley, Lyn Schofield, Hedwig Verhoef, Tudor Groza, Andreas Zankl, Peter N Robinson, Melissa Haendel, Michael Brudno, John S Mattick, Marcel E Dinger, Tony Roscioli, Mark J Cowley, Annie Olry, Marc Hanauer, Fowzan S Alkuraya, Domenica Taruscio, Manuel Posada de la Paz, Hanns Lochmüller, Kate Bushby, Rachel Thompson, Victoria Hedley, Paul Lasko, Kym Mina, John Beilby, Cynthia Tifft, Mark Davis, Nigel G Laing, Daria Julkowska, Yann Le Cam, Sharon F Terry, Petra Kaufmann, Iiro Eerola, Irene Norstedt, Ana Rath, Makoto Suematsu, Stephen C Groft, Christopher P Austin, Ruxandra Draghia-Akli, Tarun S Weeramanthri, Caron Molster, Hugh J S Dawkins
Public health relies on technologies to produce and analyse data, as well as effectively develop and implement policies and practices. An example is the public health practice of epidemiology, which relies on computational technology to monitor the health status of populations, identify disadvantaged or at risk population groups and thereby inform health policy and priority setting. Critical to achieving health improvements for the underserved population of people living with rare diseases is early diagnosis and best care...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29202739/the-lung-microbiome-in-patients-with-pneumocystosis
#11
J Kehrmann, B Veckollari, D Schmidt, O Schildgen, V Schildgen, N Wagner, M Zeschnigk, L Klein-Hitpass, O Witzke, J Buer, J Steinmann
BACKROUND: Pneumocystis jirovecii pneumonia (PCP) is an opportunistic fungal infection that is associated with a high morbidity and mortality in immunocompromised individuals. In this study, we analysed the microbiome of the lower respiratory tract from critically ill intensive care unit patients with and without pneumocystosis. METHODS: Broncho-alveolar fluids from 65 intubated and mechanically ventilated intensive care unit patients (34 PCP+ and 31 PCP- patients) were collected...
December 4, 2017: BMC Pulmonary Medicine
https://www.readbyqxmd.com/read/29201470/a-novel-mutation-of-the-cyp11b2-in-a-saudi-infant-with-primary-hypoaldosteronism
#12
Lama Alfaraidi, Abrar Alfaifi, Rawan Alquaiz, Faten Almijmaj, Horia Mawlawi
Isolated hypoaldosteronism is a rare autosomal recessive disease presenting with severe salt wasting and failure to thrive in infancy. A 6-month-old Saudi girl born to consanguineous parents was referred from primary health care for failure to thrive and developmental delay. Laboratory tests revealed hyponatremia, hyperkalemia, and metabolic acidosis with high renin and low aldosterone. Blood samples were collected for endocrine and genetic studies. Sequence analysis of the CYP11B2 revealed a T to A transition at position 1398 + 2 in exon 8 of the gene in a homozygous state (c...
2017: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/29199462/role-of-genetics-in-peripheral-arterial-disease-outcomes-significance-of-limb-salvage-quantitative-locus-1-genes
#13
Emmanuel Okeke, Ayotunde O Dokun
Peripheral artery disease is a major health care problem with significant morbidity and mortality. Humans with peripheral artery disease exhibit two major and differential clinical manifestations - intermittent claudication and critical limb ischemia. Individuals with intermittent claudication or critical limb ischemia have overlapping risk factors and objective measures of blood flow. Hence, we hypothesized that variation in genetic make-up may be an important determinant in the severity of peripheral artery disease...
January 1, 2017: Experimental Biology and Medicine
https://www.readbyqxmd.com/read/29183778/current-who-guidelines-and-the-critical-role-of-immunohistochemical-markers-in-the-subclassification-of-non-small-cell-lung-carcinoma-nsclc-moving-from-targeted-therapy-to-immunotherapy
#14
REVIEW
Lais Osmani, Frederic Askin, Edward Gabrielson, Qing Kay Li
Recent large scale genomic studies from the Clinical Lung Cancer Genome Project have identified different driver gene mutations in the subtypes of non-small cell lung carcinoma (NSCLC). These findings not only lead to remarkable progress in targeted therapies for lung cancer patients, but also provide fundamental knowledge for the subclassification of NSCLC. More recently, the advancement and clinical application of immunotherapy have reinforced the need for the accurate subclassification of NSCLC. In 2015, the World Health Organization (WHO) and the International Association for the Study of Lung Cancer (IASLC) updated their guidelines for the subclassification of lung cancers...
November 25, 2017: Seminars in Cancer Biology
https://www.readbyqxmd.com/read/29180129/genetic-diagnosis-of-epidermolysis-bullosa-recommendations-from-an-expert-spanish-research-group
#15
C Sánchez-Jimeno, M J Escámez, C Ayuso, M J Trujillo-Tiebas, M Del Río
Epidermolysis bullosa (EB) is a rare genetic disease that causes mucocutaneous fragility. It comprises a clinically and genetically heterogeneous group of disorder characterized by spontaneous or contact/friction-induced blistering. EB is classified into 4 types-simplex, junctional, dystrophic, and Kindler syndrome-and 30 subtypes. The disease is caused by defects in proteins implicated in dermal-epidermal adhesion. At least 19 genes have been characterized and more than 1000 mutations identified, thus rendering diagnosis complex...
November 24, 2017: Actas Dermo-sifiliográficas
https://www.readbyqxmd.com/read/29166296/emergency-intubations-in-a-high-volume-pediatric-emergency-department
#16
Jen Heng Pek, Gene Yong-Kwang Ong
INTRODUCTION: Resuscitation of critically ill children can be chaotic, and emergency airway management is often fraught with difficulties. This study aimed to characterize the Singaporean landscape of tracheal intubation in a pediatric emergency unit, placing emphasis on safety outcomes, procedural process of care, and provider training. METHODS: A retrospective review of all cases presented to the KK Women's and Children's Hospital from January 2009 to December 2013 with intubation carried out within the pediatric emergency unit was done...
November 21, 2017: Pediatric Emergency Care
https://www.readbyqxmd.com/read/29163597/morphology-carbohydrate-distribution-gene-expression-and-enzymatic-activities-related-to-cell-wall-hydrolysis-in-four-barley-varieties-during-simulated-malting
#17
Natalie S Betts, Laura G Wilkinson, Shi F Khor, Neil J Shirley, Finn Lok, Birgitte Skadhauge, Rachel A Burton, Geoffrey B Fincher, Helen M Collins
Many biological processes, such as cell wall hydrolysis and the mobilisation of nutrient reserves from the starchy endosperm, require stringent regulation to successfully malt barley (Hordeum vulgare) grain in an industrial context. Much of the accumulated knowledge defining these events has been collected from individual, unrelated experiments, and data have often been extrapolated from Petri dish germination, rather than malting, experiments. Here, we present comprehensive morphological, biochemical, and transcript data from a simulated malt batch of the three elite malting cultivars Admiral, Navigator, and Flagship, and the feed cultivar Keel...
2017: Frontiers in Plant Science
https://www.readbyqxmd.com/read/29159668/new-pulmonary-hypertension-model-in-conscious-dogs-to-investigate-pulmonary-selectivity-of-acute-pharmacological-interventions
#18
Thomas Mondritzki, Philip Boehme, Lena Schramm, Julia Vogel, Ilka Mathar, Peter Ellinghaus, Peter Kolkhof, Erwin Bischoff, Jörg Hüser, Wilfried Dinh, Peter Sandner, Hubert Truebel
PURPOSE: Testing of investigational drugs in animal models is a critical step in drug development. Current models of pulmonary hypertension (PH) have limitations. The most relevant outcome parameters such as pulmonary artery pressure (PAP) are measured invasively which requires anesthesia of the animal. We developed a new canine PH model in which pulmonary vasodilators can be characterized in conscious dogs and lung selectivity can be assessed non-invasively. METHODS: Telemetry devices were implanted to measure relevant hemodynamic parameters in conscious dogs...
January 2018: European Journal of Applied Physiology
https://www.readbyqxmd.com/read/29158997/presentation-and-treatments-for-mucopolysaccharidosis-type-ii-mps-ii-hunter-syndrome
#19
Molly Stapleton, Francyne Kubaski, Robert W Mason, Hiromasa Yabe, Yasuyuki Suzuki, Kenji E Orii, Tadao Orii, Shunji Tomatsu
Introduction: Mucopolysaccharidosis Type II (MPS II; Hunter syndrome) is an X- linked lysosomal storage disorder caused by a deficiency of iduronate-2-sulfatase (IDS). IDS deficiency leads to primary accumulation of dermatan sulfate (DS) and heparan sulfate (HS). MPS II is both multi-systemic and progressive. Phenotypes are classified as either attenuated or severe (based on absence or presence of central nervous system impairment, respectively). Areas covered: Current treatments available are intravenous enzyme replacement therapy (ERT), hematopoietic stem cell transplantation (HSCT), anti-inflammatory treatment, and palliative care with symptomatic surgeries...
2017: Expert Opinion on Orphan Drugs
https://www.readbyqxmd.com/read/29142068/pharmacologic-inhibition-of-the-menin-mll-interaction-leads-to-transcriptional-repression-of-peg10-and-blocks-hepatocellular-carcinoma
#20
Katarzyna Kempinska, Bhavna Malik, Dmitry Borkin, Szymon Klossowski, Shirish Shukla, Hongzhi Miao, Jingya Wang, Tomasz Cierpicki, Jolanta Grembecka
Hepatocellular carcinoma (HCC) accounts for ~85% of malignant liver tumors and results in 600,000 deaths each year, emphasizing the need for new therapies. Upregulation of menin was reported in HCC patients and high levels of menin correlate with poor patient prognosis. The protein-protein interaction between menin and histone methyltransferase Mixed Lineage Leukemia 1 (MLL1) plays an important role in the development of HCC, implying that pharmacologic inhibition of this interaction could lead to new therapeutic strategy for the HCC patients...
November 15, 2017: Molecular Cancer Therapeutics
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