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Syndrome surveillance

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https://www.readbyqxmd.com/read/28526761/a-retrospective-chart-review-of-the-features-of-pten-hamartoma-tumour-syndrome-in-children
#1
Emily Hansen-Kiss, Sarah Beinkampen, Brent Adler, Thomas Frazier, Thomas Prior, Steven Erdman, Charis Eng, Gail Herman
OBJECTIVE: It is recognised that 5% - 10 % of children with macrocephaly and autism spectrum disorder (ASD) and/or intellectual disability (ID) have a heterozygous pathogenic mutation in the PTEN tumour suppressor gene that is associated with PTEN hamartoma tumour syndrome. However, the clinical features and course in children with a pathogenic PTEN mutation are unclear and have not been well documented. STUDY OBJECTIVES: We undertook a retrospective chart review of children (< 18  years) with pathogenic PTEN mutations to ascertain clinical findings, clinical course and possible outcomes...
May 19, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28525991/correcting-for-day-of-the-week-and-public-holiday-effects-improving-a-national-daily-syndromic-surveillance-service-for-detecting-public-health-threats
#2
Elizabeth Buckingham-Jeffery, Roger Morbey, Thomas House, Alex J Elliot, Sally Harcourt, Gillian E Smith
BACKGROUND: As service provision and patient behaviour varies by day, healthcare data used for public health surveillance can exhibit large day of the week effects. These regular effects are further complicated by the impact of public holidays. Real-time syndromic surveillance requires the daily analysis of a range of healthcare data sources, including family doctor consultations (called general practitioners, or GPs, in the UK). Failure to adjust for such reporting biases during analysis of syndromic GP surveillance data could lead to misinterpretations including false alarms or delays in the detection of outbreaks...
May 19, 2017: BMC Public Health
https://www.readbyqxmd.com/read/28523199/de-novo-pten-mutation-in-a-young-boy-with-cutaneous-vasculitis
#3
Angela Mauro, Ebun Omoyinmi, Neil James Sebire, Angela Barnicoat, Paul Brogan
Phosphatase and tensin homolog (PTEN) is the protein encoded by the PTEN gene (10q23.3). PTEN mutations are related to a variety of rare diseases referred to collectively as PTEN hamartoma tumor syndromes (PHTS), which include Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus Syndrome, and Proteus-like syndrome. These diseases are associated with an increased risk of malignancy and for this reason an accurate and early diagnosis is essential in order to institute cancer surveillance. PTEN is a regulator of growth and homeostasis in immune system cells, although there are limited data describing immune dysregulation caused by PTEN mutations...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28523196/neoplasia-in-cri-du-chat-syndrome-from-italian-and-german-databases
#4
Andrea Guala, Marianna Spunton, Silvia Kalantari, Ingo Kennerknecht, Cesare Danesino
Cri du Chat syndrome (CdC) is a chromosomal abnormality (deletion of short arm of chromosome 5) associated with intellectual disability and typical anatomical abnormalities. Research up to now focuses on the management of the disease during childhood. The longer lifespan of these patients warrants deeper investigations of how and if aging could be affected by the syndrome. We decided to focus on the association of the disease with proliferative disorders. Data on proliferative disorders in a cohort of 321 patients from Italian and German Cri du Chat databases were collected...
2017: Case Reports in Genetics
https://www.readbyqxmd.com/read/28522975/hypoxia-and-inactivity-related-physiological-changes-constipation-inflammation-are-not-reflected-at-the-level-of-gut-metabolites-and-butyrate-producing-microbial-community-the-planhab-study
#5
Robert Šket, Nicole Treichel, Tadej Debevec, Ola Eiken, Igor Mekjavic, Michael Schloter, Marius Vital, Jenna Chandler, James M Tiedje, Boštjan Murovec, Zala Prevoršek, Blaž Stres
We explored the assembly of intestinal microbiota in healthy male participants during the run-in (5 day) and experimental phases [21-day normoxic bed rest (NBR), hypoxic bedrest (HBR)], and hypoxic ambulation (HAmb) in a strictly controlled laboratory environment, balanced fluid, and dietary intakes, controlled circadian rhythm, microbial ambiental burden, and 24/7 medical surveillance. The fraction of inspired O2 (FiO2) and partial pressure of inspired O2 (PiO2) were 0.209 and 133.1 ± 0.3 mmHg for NBR and 0...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28520997/resistant-pathogens-as-causes-of-traveller-s-diarrhea-globally-and-impact-s-on-treatment-failure-and-recommendations
#6
David R Tribble
Background: : Diarrhea is a frequent clinical syndrome affecting international travellers. Bacterial etiologic agents have a long history of emergent antimicrobial resistance against commonly used antibiotics. Current approaches applying first-line antimicrobial therapy are being challenged by increasingly resistant organisms. This review summarizes recent epidemiological and clinical evidence of antibiotic resistance among enteropathogens causing traveller's diarrhea and the subsequent impact on current treatment recommendations...
April 1, 2017: Journal of Travel Medicine
https://www.readbyqxmd.com/read/28512745/implementation-of-multi-disciplinary-care-reduces-maternal-mortality-in-women-with-sickle-cell-disease-living-in-low-resource-setting
#7
Eugenia Vicky Asare, Edeghonghon Olayemi, Theodore Boafor, Yvonne Dei-Adomakoh, Enoch Mensah, Harriet Ghansah, Yvonne Osei-Bonsu, Selina Crabbe, Latif Musah, Charles Hayfron-Benjamin, Brittany Covert, Adetola A Kassim, Andra James, Mark Rodeghier, Michael R DeBaun, Samuel A Oppong
Sickle cell disease (SCD) is associated with adverse pregnancy outcome. In women with SCD living in low-resource settings, pregnancy is associated with significantly increased maternal and perinatal mortality rates. We tested the hypothesis that implementing a multidisciplinary obstetric and hematology care team in a low-resource setting would significantly reduce maternal and perinatal mortality rates. We conducted a before-and-after study, at the Korle-Bu Teaching Hospital in Accra, Ghana, to evaluate the effect of a multidisciplinary obstetric-hematology care team for women with SCD in a combined SCD-Obstetric Clinic...
May 16, 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/28506782/the-misleading-effect-of-serum-galactomannan-testing-in-high-risk-hematology-patients-receiving-prophylaxis-with-micafungin
#8
A Vena, E Bouza, A Álvarez-Uría, J Gayoso, P Martin-Rabadan, F Cajuste, J Guinea, J Gómez Castellá, R Alonso, P Munoz
OBJECTIVES: To investigate the performance of the routine serum galactomannan (sGM) assay in the diagnosis of invasive aspergillosis (IA) in high-risk hematology patients receiving prophylaxis with micafungin. METHODS: Retrospective study including all hematological patients who received prophylaxis with micafungin during high-risk IA episodes (neutropenic patients after chemotherapy for acute myeloid leukaemia/myelodysplastic syndrome; allogeneic HSCT during early neutropenic phase or graft-versus-host disease requiring high prednisone doses)...
May 12, 2017: Clinical Microbiology and Infection
https://www.readbyqxmd.com/read/28506566/trends-in-racial-ethnic-disparities-of-new-aids-diagnoses-in-the-united-states-1984-2013
#9
Johanna Chapin-Bardales, Eli Samuel Rosenberg, Patrick Sean Sullivan
PURPOSE: In the United States, human immunodeficiency virus (HIV)/acquired immune deficiency syndrome (AIDS) disproportionately impacts racial/ethnic minorities. We describe and evaluate trends in the Black-White and Hispanic-White disparities of new AIDS diagnoses from 1984 to 2013 in the United States. METHODS: AIDS diagnosis rates by race/ethnicity for people ≥13 years were calculated using national HIV surveillance and Census data. Black-White and Hispanic-White disparities were measured as rate ratios...
April 21, 2017: Annals of Epidemiology
https://www.readbyqxmd.com/read/28506507/syndrome-surveillance-of-fentanyl-laced-heroin-outbreaks-utilization-of-ems-medical-examiner-and-poison-center-databases
#10
P Quincy Moore, Joseph Weber, Steven Cina, Steven Aks
OBJECTIVE: Describe surveillance data from three existing surveillance systems during an unexpected fentanyl outbreak in a large metropolitan area. METHODS: We performed a retrospective analysis of three data sets: Chicago Fire Department EMS, Cook County Medical Examiner, and Illinois Poison Center. Each included data from January 1, 2015 through December 31, 2015. EMS data included all EMS responses in Chicago, Illinois, for suspected opioid overdose in which naloxone was administered and EMS personnel documented other criteria indicative of opioid overdose...
May 8, 2017: American Journal of Emergency Medicine
https://www.readbyqxmd.com/read/28501338/risk-factors-for-metabolic-syndrome-after-liver-transplantation-a-systematic-review-and-meta-analysis
#11
REVIEW
Line Buch Thoefner, Andreas Arendtsen Rostved, Hans-Christian Pommergaard, Allan Rasmussen
INTRODUCTION: Metabolic syndrome is associated with increased risk of cardiovascular events, which contributes to the elevated mortality rate among liver transplant recipients. The objective of this systematic review and meta-analysis was to assess the prevalence and risk factors for metabolic syndrome after liver transplantation. METHODS: The databases Medline and Scopus were searched for observational studies evaluating prevalence and risk factors for metabolic syndrome after liver transplantation...
April 23, 2017: Transplantation Reviews
https://www.readbyqxmd.com/read/28501250/hereditary-colorectal-cancer-syndromes
#12
REVIEW
Katerina Wells, Paul E Wise
Awareness of hereditary colorectal cancer syndromes is important to facilitate their identification because affected patients are at increased risk for early onset, synchronous, and metachronous colorectal malignancies, and certain extracolonic malignancies depending on the syndrome. Identification of an affected individual allows for screening and early interventions for patients and their at-risk kindred. Genetic counseling and testing is important to the care of these patients. As knowledge of the genetic basis of these syndromes grows, unique genotype-phenotype profiles allow clinicians to tailor surveillance and treatment strategies based on individual risk...
June 2017: Surgical Clinics of North America
https://www.readbyqxmd.com/read/28500741/mouth-examination-performance-by-children-s-parents-and-by-adolescents-in-fanconi-anemia
#13
Allana Pivovar, Camila Pinheiro Furquim, Carmem Bonfim, Cassius Carvalho Torres-Pereira
BACKGROUND: Fanconi anemia (FA) is a rare genetic syndrome characterized by increased risk of developing malignant neoplasms, particularly oral squamous cell carcinoma. This study aims to ascertain the extent to which adolescents and guardians/parents of children with FA are aware of their oral cancer risks and assess their ability to perform mouth examination (ME). PROCEDURE: A cross-sectional study was conducted among patients with FA (between 6 and 16 years) and their parents...
May 13, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28486640/generalized-metabolic-bone-disease-and-fracture-risk-in-rothmund-thomson-syndrome
#14
Felicia Cao, Linchao Lu, Steven A Abrams, Keli M Hawthorne, Allison Tam, Weidong Jin, Brian Dawson, Roman Shypailo, Hao Liu, Brendan Lee, Sandesh Cs Nagamani, Lisa L Wang
Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder characterized by poikiloderma, small stature, sparse hair, skeletal abnormalities, increased risk of osteosarcoma, and decreased bone mass. To date, there has not been a comprehensive evaluation of the prevalence and extent of metabolic bone disease in RTS. Furthermore, the mechanisms that result in this phenotype are largely unknown. In this report, we provide a detailed evaluation of 29 individuals with RTS with respect to their metabolic bone status including bone mineral density, calcium kinetics studies, and markers of bone remodeling...
May 9, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28482851/checkpoint-inhibitors-in-hematological-malignancies
#15
REVIEW
Chi Young Ok, Ken H Young
Inhibitory molecules such as PD-1, CTLA-4, LAG-3, or TIM-3 play a role to keep a balance in immune function. However, many cancers exploit such molecules to escape immune surveillance. Accumulating data support that their functions are dysregulated in lymphoid neoplasms, including plasma cell myeloma, myelodysplastic syndrome, and acute myeloid leukemia. In lymphoid neoplasms, aberrations in 9p24.1 (PD-L1, PD-L2, and JAK2 locus), latent Epstein-Barr virus infection, PD-L1 3'-untranslated region disruption, and constitutive JAK-STAT pathway are known mechanisms to induce PD-L1 expression in lymphoma cells...
May 8, 2017: Journal of Hematology & Oncology
https://www.readbyqxmd.com/read/28482830/comparing-national-infectious-disease-surveillance-systems-china-and-the-netherlands
#16
Willemijn L Vlieg, Ewout B Fanoy, Liselotte van Asten, Xiaobo Liu, Jun Yang, Eva Pilot, Paul Bijkerk, Wim van der Hoek, Thomas Krafft, Marianne A van der Sande, Qi-Yong Liu
BACKGROUND: Risk assessment and early warning (RAEW) are essential components of any infectious disease surveillance system. In light of the International Health Regulations (IHR)(2005), this study compares the organisation of RAEW in China and the Netherlands. The respective approaches towards surveillance of arboviral disease and unexplained pneumonia were analysed to gain a better understanding of the RAEW mode of operation. This study may be used to explore options for further strengthening of global collaboration and timely detection and surveillance of infectious disease outbreaks...
May 8, 2017: BMC Public Health
https://www.readbyqxmd.com/read/28482042/bap1-mutations-in-high-grade-meningioma-implications-for-patient-care
#17
Ganesh M Shankar, Sandro Santagata
We have recently shown that the BAP1 (BRCA1-associated protein-1) tumor suppressor gene is inactivated in a subset of clinically-aggressive meningiomas that display rhabdoid histomorphology. Immunohistochemistry for BAP1 protein provides a rapid and inexpensive method for screening suspected cases. Notably, some patients with BAP1-mutant meningiomas have germline BAP1 mutations and the BAP1 tumor predisposition syndrome (BAP1-TPDS). It appears that nearly all patients with germline BAP1 mutations develop malignancies by age 55, most frequently uveal melanoma, cutaneous melanoma, pleural or peritoneal malignant mesothelioma or renal cell carcinoma, although other cancers have also been associated with the BAP1-TPDS...
May 8, 2017: Neuro-oncology
https://www.readbyqxmd.com/read/28480255/risk-factors-for-influenza-associated-severe-acute-respiratory-illness-hospitalization-in-south-africa-2012-2015
#18
Stefano Tempia, Sibongile Walaza, Jocelyn Moyes, Adam L Cohen, Claire von Mollendorf, Florette K Treurnicht, Marietjie Venter, Marthi Pretorius, Orienka Hellferscee, Senzo Mtshali, Mpho Seleka, Akhona Tshangela, Athermon Nguweneza, Johanna M McAnerney, Nicole Wolter, Anne von Gottberg, Halima Dawood, Ebrahim Variava, Shabir A Madhi, Cheryl Cohen
BACKGROUND: Data on risk factors for influenza-associated hospitalizations in low- and middle-income countries are limited. METHODS: We conducted active syndromic surveillance for hospitalized severe acute respiratory illness (SARI) and outpatient influenza-like illness (ILI) in 2 provinces of South Africa during 2012-2015. We compared the characteristics of influenza-positive patients with SARI to those with ILI to identify factors associated with severe disease requiring hospitalization, using unconditional logistic regression...
2017: Open Forum Infectious Diseases
https://www.readbyqxmd.com/read/28479639/evaluation-of-the-influenza-sentinel-surveillance-system-in-madagascar-2009-2014
#19
Alain Rakotoarisoa, Laurence Randrianasolo, Stefano Tempia, Julia Guillebaud, Norosoa Razanajatovo, Lea Randriamampionona, Patrice Piola, Ariane Halm, Jean-Michel Heraud
PROBLEM: Evaluation of influenza surveillance systems is poor, especially in Africa. APPROACH: In 2007, the Institut Pasteur de Madagascar and the Malagasy Ministry of Public Health implemented a countrywide system for the prospective syndromic and virological surveillance of influenza-like illnesses. In assessing this system's performance, we identified gaps and ways to promote the best use of resources. We investigated acceptability, data quality, flexibility, representativeness, simplicity, stability, timeliness and usefulness and developed qualitative and/or quantitative indicators for each of these attributes...
May 1, 2017: Bulletin of the World Health Organization
https://www.readbyqxmd.com/read/28476913/prevalence-and-risk-factors-associated-with-stis-among-women-initiating-contraceptive-implants-in-kingston-jamaica
#20
Margaret Christine Snead, Jeffrey Wiener, Sinmisola Ewumi, Christi Phillips, Lisa Flowers, Tina Hylton-Kong, Natalie Medley-Singh, Jennifer Legardy-Williams, Elizabeth Costenbader, John Papp, Lee Warner, Carolyn Black, Athena P Kourtis
BACKGROUND: There is limited information on rates of STIs in Jamaica due to syndromic management and limited aetiological surveillance. We examined the prevalence of Chlamydia trachomatis (CT), Neisseria gonorrhoeae (NG) and Trichomonas vaginalis (TV) and characteristics associated with STIs among sexually active women who participated in a randomised trial of a progestin implant initiation in Jamaica (the Sino-Implant Study (SIS)). METHODS: SIS was a randomised trial conducted in Kingston, Jamaica, from 2012 to 2014 to evaluate whether initiation of the Sino-Implant (II) led to more unprotected sex among women ages 18-44 years...
May 5, 2017: Sexually Transmitted Infections
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