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https://www.readbyqxmd.com/read/29350591/clip-ligation-for-ruptured-intracranial-aneurysm-in-a-child-with-loeys-dietz-syndrome-case-report
#1
Steven B Carr, Greg Imbarrato, Robert E Breeze, C Corbett Wilkinson
The authors present the case of a pediatric patient with Loeys-Dietz syndrome (LDS) who underwent craniotomy for clip ligation of a ruptured intracranial aneurysm. To the authors' knowledge, this is the youngest reported patient with LDS who has been treated for a ruptured intracranial aneurysm. The patient presented with aneurysmal subarachnoid hemorrhage even though the results of surveillance screening were negative, and the aneurysm arose from the wall of the parent artery away from an arterial branch point...
January 19, 2018: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/29350541/using-cell-phone-technology-to-investigate-a-deliberate-bacillus-anthracis-release-scenario
#2
Arik Eisenkraft, Amichay Afriat, Yechiel Hubary, Ron Lev, Hayim Shaul, Ran D Balicer
Unusual biological events and outbreaks require rapid epidemiologic investigation and contact tracing procedures, allowing optimal handling of resources. Currently, these are resource intensive, time consuming, and extremely complex, requiring large teams of trained and prepared personnel. The goal of this study was to determine whether a technological alternative to the classic systems, based on the use of mobile phones and a unique algorithm, could perform a complete epidemiologic investigation in a setting of a bioterrorism scenario...
January 19, 2018: Health Security
https://www.readbyqxmd.com/read/29350159/clinical-and-molecular-epidemiology-of-staphylococcal-toxic-shock-syndrome-in-the-united-kingdom
#3
Hema Sharma, Debra Smith, Claire E Turner, Laurence Game, Bruno Pichon, Russell Hope, Robert Hill, Angela Kearns, Shiranee Sriskandan
Staphylococcal toxic shock syndrome (TSS) was originally described in menstruating women and linked to TSS toxin 1 (TSST-1)-producing Staphylococcus aureus. Using UK national surveillance data, we ascertained clinical, molecular and superantigenic characteristics of TSS cases. Average annual TSS incidence was 0.07/100,000 population. Patients with nonmenstrual TSS were younger than those with menstrual TSS but had the same mortality rate. Children <16 years of age accounted for 39% of TSS cases, most caused by burns and skin and soft tissue infections...
February 2018: Emerging Infectious Diseases
https://www.readbyqxmd.com/read/29350137/multiplex-pcr-based-next-generation-sequencing-and-global-diversity-of-seoul-virus-in-humans-and-rats
#4
Won-Keun Kim, Jin Sun No, Seung-Ho Lee, Dong Hyun Song, Daesang Lee, Jeong-Ah Kim, Se Hun Gu, Sunhye Park, Seong Tae Jeong, Heung-Chul Kim, Terry A Klein, Michael R Wiley, Gustavo Palacios, Jin-Won Song
Seoul virus (SEOV) poses a worldwide public health threat. This virus, which is harbored by Rattus norvegicus and R. rattus rats, is the causative agent of hemorrhagic fever with renal syndrome (HFRS) in humans, which has been reported in Asia, Europe, the Americas, and Africa. Defining SEOV genome sequences plays a critical role in development of preventive and therapeutic strategies against the unique worldwide hantavirus. We applied multiplex PCR-based next-generation sequencing to obtain SEOV genome sequences from clinical and reservoir host specimens...
February 2018: Emerging Infectious Diseases
https://www.readbyqxmd.com/read/29345684/msh6-and-pms2-germ-line-pathogenic-variants-implicated-in-lynch-syndrome-are-associated-with-breast-cancer
#5
Maegan E Roberts, Sarah A Jackson, Lisa R Susswein, Nur Zeinomar, Xinran Ma, Megan L Marshall, Amy R Stettner, Becky Milewski, Zhixiong Xu, Benjamin D Solomon, Mary Beth Terry, Kathleen S Hruska, Rachel T Klein, Wendy K Chung
PurposeAn association of Lynch syndrome (LS) with breast cancer has been long suspected; however, there have been insufficient data to address this question for each of the LS genes individually.MethodsWe conducted a retrospective review of personal and family history in 423 women with pathogenic or likely pathogenic germ-line variants in MLH1 (N = 65), MSH2 (N = 94), MSH6 (N = 140), or PMS2 (N = 124) identified via clinical multigene hereditary cancer testing. Standard incidence ratios (SIRs) of breast cancer were calculated by comparing breast cancer frequencies in our study population with those in the general population (Surveillance, Epidemiology, and End Results 18 data)...
January 18, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29343557/dicer1-and-associated-conditions-%C3%A2-identification-of-at-risk-individuals-and-recommended-surveillance-strategies
#6
Kris Ann P Schultz, Gretchen M Williams, Junne Kamihara, Douglas R Stewart, Anne K Harris, Andrew J Bauer, Joyce Turner, Rachana Shah, Katherine Schneider, Kami Wolfe Schneider, Ann Garrity Carr, Laura A Harney, Shari Baldinger, A Lindsay Frazier, Daniel Orbach, Dominik T Schneider, David Malkin, Louis P Dehner, Yoav H Messinger, Ashley Hill
Pathogenic germline DICER1 variants cause a hereditary cancer predisposition syndrome with a variety of manifestations. In addition to conferring increased cancer risks for pleuropulmonary blastoma (PPB) and ovarian sex cord-stromal tumors, particularly Sertoli-Leydig cell tumor, individuals with pathogenic germline DICER1 variants may also develop lung cysts, cystic nephroma, renal sarcoma and Wilms tumor, nodular hyperplasia of the thyroid, nasal chondromesenchymal hamartoma, ciliary body medulloepithelioma, genitourinary embryonal rhabdomyosarcoma and brain tumors including pineoblastoma and pituitary blastoma...
January 17, 2018: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/29341490/containing-influenza-outbreaks-with-antiviral-use-in-long-term-care-facilities-in-taiwan-2008-2014
#7
Hao-Yuan Cheng, Wan-Chin Chen, Yu-Ru Chou, Angela Song-En Huang, Wan-Ting Huang
BACKGROUNDS: Influenza can spread rapidly in long-term care facilities (LTCFs) and residents are usually at higher risk for influenza infections. OBJECTIVE: Our study aimed to evaluate the effectiveness of antiviral interventions on outbreak control. METHODS: Taiwan Centers for Disease Control used a syndromic surveillance system to monitor outbreaks in LTCFs. Local public health authorities verified those outbreaks and logged reports to the Epidemic Investigation Report Files Management System (EIRFMS)...
January 17, 2018: Influenza and Other Respiratory Viruses
https://www.readbyqxmd.com/read/29340460/first-serologic-evidence-of-human-hantavirus-infection-in-alagoas-state-in-northeastern-brazil
#8
José Alfredo Dos Santos-Júnior, Flávio Martins Dos Santos, Patrícia Alves Barros, Nedja Poliane Torres Medeiros, Gilberto Sabino-Santos Júnior, Magliones Carneiro de Lima, Luiz Tadeu Moraes Figueiredo, Alessandra Abel Borges
INTRODUCTION: Hantavirus cardiopulmonary syndrome (HCPS) is rare in Northeastern Brazil. METHODS: Prospective surveillance was conducted over a two-year period in Alagoas State, Northeastern Brazil. The prevalence of anti-hantavirus N-antigen IgM and IgG in human serum samples was determined by enzyme-linked immunosorbent assay testing. RESULTS: High avidity IgG was found in nine of 476 serum samples tested (from 102 patients with clinical manifestations compatible with HCPS, 124 patients with leptospirosis, and 250 healthy rural workers)...
November 2017: Revista da Sociedade Brasileira de Medicina Tropical
https://www.readbyqxmd.com/read/29337997/event-based-surveillance-of-middle-east-respiratory-syndrome-coronavirus-mers-cov-in-bangladesh-among-pilgrims-and-travelers-from-the-middle-east-an-update-for-the-period-2013-2016
#9
A K M Muraduzzaman, Manjur Hossain Khan, Rezina Parveen, Sharmin Sultana, Ahmed Nawsher Alam, Arifa Akram, Mahmudur Rahman, Tahmina Shirin
INTRODUCTION: Every year around 150,000 pilgrims from Bangladesh perform Umrah and Hajj. Emergence and continuous reporting of MERS-CoV infection in Saudi Arabia emphasize the need for surveillance of MERS-CoV in returning pilgrims or travelers from the Middle East and capacity building of health care providers for disease containment. The Institute of Epidemiology, Disease Control & Research (IEDCR) under the Bangladesh Ministry of Health and Family welfare (MoHFW), is responsible for MERS-CoV screening of pilgrims/ travelers returning from the Middle East with respiratory illness as part of its outbreak investigation and surveillance activities...
2018: PloS One
https://www.readbyqxmd.com/read/29336434/acg-clinical-guideline-alcoholic-liver-disease
#10
Ashwani K Singal, Ramon Bataller, Joseph Ahn, Patrick S Kamath, Vijay H Shah
Alcoholic liver disease (ALD) comprises a clinical-histologic spectrum including fatty liver, alcoholic hepatitis (AH), and cirrhosis with its complications. Most patients are diagnosed at advanced stages and data on the prevalence and profile of patients with early disease are limited. Diagnosis of ALD requires documentation of chronic heavy alcohol use and exclusion of other causes of liver disease. Prolonged abstinence is the most effective strategy to prevent disease progression. AH presents with rapid onset or worsening of jaundice, and in severe cases may transition to acute on chronic liver failure when the risk for mortality, depending on the number of extra-hepatic organ failures, may be as high as 20-50% at 1 month...
January 16, 2018: American Journal of Gastroenterology
https://www.readbyqxmd.com/read/29333623/evaluation-of-universal-immunohistochemical-screening-of-sebaceous-neoplasms-in-a-service-setting
#11
K Schon, E Rytina, J Drummond, J Simmonds, S Abbs, R Sandford, M Tischkowitz
BACKGROUND: Muir-Torre syndrome (MTS) is a subtype of Lynch syndrome, which encompasses the combination of sebaceous skin tumours or keratoacanthomas and internal malignancy, due to mutations in DNA mismatch repair genes. Sebaceous neoplasms (SNs) may occur before other malignancies, and may lead to the diagnosis, which allows testing of other family members, cancer surveillance, risk-reducing surgery or prevention therapies. AIM: To evaluate the efficacy of universal immunohistochemistry (IHC) screening of SNs in a service setting...
January 14, 2018: Clinical and Experimental Dermatology
https://www.readbyqxmd.com/read/29333064/colorectal-polyposis-and-inherited-colorectal-cancer-syndromes
#12
REVIEW
Raphael M Byrne, Vassiliki Liana Tsikitis
The majority of colorectal cancer (CRC) cases are sporadic, with hereditary factors contributing to approximately 35% of CRC cases. Less than 5% of CRC is associated with a known genetic syndrome. Although adenomatous polyposis syndromes, hamartomatous polyposis syndromes, and those previously classified as non-polyposis CRC syndromes are quite rare, it is important for clinicians to know the characteristics of each syndrome and to understand the differences in cancer risks between the different conditions...
January 2018: Annals of Gastroenterology: Quarterly Publication of the Hellenic Society of Gastroenterology
https://www.readbyqxmd.com/read/29331670/circulation-of-alphacoronavirus-betacoronavirus-and-paramyxovirus-in-hipposideros-bat-species-in-zimbabwe
#13
Mathieu Bourgarel, Davies M Pfukenyi, Vanina Boué, Loïc Talignani, Ngoni Chiweshe, Fodé Diop, Alexandre Caron, Gift Matope, Dorothée Missé, Florian Liégeois
Bats carry a great diversity of zoonotic viruses with a high-impact on human health and livestock. Since the emergence of new coronaviruses and paramyxoviruses in humans (e.g. Severe Acute Respiratory Syndrome Coronavirus (SARS-CoV) and Nipah virus), numerous studies clearly established that bats can maintain some of these viruses. Improving our understanding on the role of bats in the epidemiology of the pathogens they harbour is necessary to prevent cross-species spill over along the wild/domestic/human gradient...
January 10, 2018: Infection, Genetics and Evolution
https://www.readbyqxmd.com/read/29324903/korean-survey-data-reveals-an-association-of-chronic-laryngitis-with-tinnitus-in-men
#14
Myung Jin Ban, Won Shik Kim, Ki Nam Park, Jae Wook Kim, Seung Won Lee, Kyungdo Han, Jae Won Chang, Hyung Kwon Byeon, Yoon Woo Koh, Jae Hong Park
The association between chronic laryngitis and tinnitus is not a well-studied topic, unlike the association of these two conditions with many other disorders. Cross-sectional data of 11,347 adults (males: 4,934; females: 6,413), who completed the Korea National Health and Nutrition Examination Survey (KNHANES) from 2010 to 2012 were used to investigate this association. Lifestyle patterns, including smoking and alcohol habits, regular exercise, physical and mental health status, socioeconomic status, nutritional status, and other chronic diseases, were analyzed...
2018: PloS One
https://www.readbyqxmd.com/read/29324801/clinical-characteristics-and-registry-validated-extended-pedigrees-of-germline-tp53-mutation-carriers-in-denmark
#15
Ulrik Stoltze, Anne-Bine Skytte, Henriette Roed, Henrik Hasle, Bent Ejlertsen, Thomas van Overeem Hansen, Kjeld Schmiegelow, Anne-Marie Gerdes, Karin Wadt
INTRODUCTION: TP53 mutation carrier (Li-Fraumeni Syndrome, LFS) cohort studies often suffer from lack of extensive pedigree exploration. METHODS: We performed a nation-wide exploration of TP53 mutation carrier families identified through all clinical genetics departments in Denmark. Pedigrees were expanded and verified using unique national person identification, cancer, cause of death, pathology, and church registries. RESULTS: We identified 30 confirmed, six obligate and 14 assumed carriers in 15 families harboring 14 different mutations, including five novel and three de novo germline mutations...
2018: PloS One
https://www.readbyqxmd.com/read/29324375/cancer-in-an-unexpected-site-post-pouch-surgery-for-familial-adenomatous-polyposis-fap
#16
Omar A Alwahbi, Alaa S Abduljabbar, Lucman A Anwer
INTRODUCTION: Familial Adenomatous Polyposis (FAP) is a hereditary condition characterized by multiple colorectal adenomatous polyps. FAP is the most common adenomatous polyposis syndrome. Restorative proctocolectomy is the most commonly performed surgical procedure performed for patients suffering from FAP with different options for anastomosis, namely ileorectal anastomosis (IRA) or ileal pouch anal anastomosis (IPAA). The occurrence of adenomas is a common finding during follow up and surveillance post surgery for these patients...
December 28, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/29316565/transjugular-intrahepatic-portosystemic-shunt-in-patients-with-portal-hypertension-patency-depends-on-coverage-and-interventionalist-s-experience
#17
Matthias Buechter, Paul Manka, Guido Gerken, Ali Canbay, Sandra Blomeyer, Axel Wetter, Jens Altenbernd, Alisan Kahraman, Jens M Theysohn
BACKGROUND AND AIMS: Transjugular intrahepatic portosystemic shunt (TIPS) is the treatment of choice in decompensated portal hypertension. TIPS revision due to thrombosis or stenosis increases morbidity and mortality. Our aim was to investigate patient- and procedure-associated risk factors for TIPS-revision. PATIENTS AND METHODS: We retrospectively evaluated 189 patients who underwent the TIPS procedure. Only patients who required TIPS revision within 1 year (Group I, 34 patients) and patients who did not require re-intervention within the first year (Group II [control group], 54 patients) were included...
January 9, 2018: Digestive Diseases
https://www.readbyqxmd.com/read/29315962/multiple-dicer1-related-tumors-in-a-child-with-a-large-interstitial-14q32-deletion
#18
Leanne de Kock, Dominique Geoffrion, Barbara Rivera, Rabea Wagener, Nelly Sabbaghian, Susanne Bens, Benjamin Ellezam, Dorothée Bouron-Dal Soglio, Jessica Ordóñez, Stephanie Sacharow, Jose Fernando Polo Nieto, R Paul Guillerman, Gordan M Vujanic, John R Priest, Reiner Siebert, William D Foulkes
Germ-line interstitial deletions involving the 14q32 chromosomal region, resulting in 14q32 deletion syndrome, are rare. DICER1 is a recently described cancer-predisposition gene located at 14q32.13. We report the case of a male child with an approximately 5.8 Mbp 14q32.13q32.2 germ-line deletion, which included the full DICER1 locus. We reviewed available clinical and pathological material, and conducted genetic analyses. In addition to having congenital dysmorphic features, the child developed multiple DICER1 syndrome-related tumors before age 5 years: a pediatric cystic nephroma (pCN), a ciliary body medulloepithelioma (CBME), and a small lung cyst (consistent with occult pleuropulmonary blastoma Type I/Ir cysts seen in DICER1 mutation carriers)...
January 9, 2018: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/29315224/the-zika-virus-epidemic-in-brazil-from-discovery-to-future-implications
#19
REVIEW
Rachel Lowe, Christovam Barcellos, Patrícia Brasil, Oswaldo G Cruz, Nildimar Alves Honório, Hannah Kuper, Marilia Sá Carvalho
The first confirmed case of Zika virus infection in the Americas was reported in Northeast Brazil in May 2015, although phylogenetic studies indicate virus introduction as early as 2013. Zika rapidly spread across Brazil and to more than 50 other countries and territories on the American continent. The Aedesaegypti mosquito is thought to be the principal vector responsible for the widespread transmission of the virus. However, sexual transmission has also been reported. The explosively emerging epidemic has had diverse impacts on population health, coinciding with cases of Guillain-Barré Syndrome and an unexpected epidemic of newborns with microcephaly and other neurological impairments...
January 9, 2018: International Journal of Environmental Research and Public Health
https://www.readbyqxmd.com/read/29313943/pediatric-oncologist-willingness-to-offer-germline-tp53-testing-in-osteosarcoma
#20
Eliana Shaul, Michael Roth, Yungtai Lo, David S Geller, Bang Hoang, Rui Yang, David Malkin, Richard Gorlick, Jonathan Gill
BACKGROUND: Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome caused by mutations in the tumor-suppressor gene TP53. Osteosarcoma is a sentinel cancer in LFS. Prior studies using Sanger sequencing platforms have demonstrated that 3% of individuals with osteosarcoma harbor a mutation in TP53. New data from next-generation sequencing have demonstrated that 3.8% of patients with osteosarcoma have a known pathogenic variant, and an additional 5.7% carry exonic variants of unknown significance in TP53...
January 3, 2018: Cancer
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