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https://www.readbyqxmd.com/read/29783935/identification-of-a-novel-nonsense-mutation-in-the-unc13d-gene-from-a-patient-with-hemophagocytic-lymphohistiocytosis-a-case-report
#1
Xijiang Hu, Dongling Liu, Xiwen Jiang, Bo Gao, Changying Chen
BACKGROUND: Hemophagocytic lymphohistiocytosis (HLH) is a heterogeneous and potentially fatal disease that presents symptoms of persistent fever, splenomegaly and cytopenia. Primary HLH is identified as an autosomal recessive disorder with causative genes including HPLH1, PRF1, UNC13D, STX11 and STXBP2. CASE PRESENTATION: Here, we reported an 8-month-old female patient with compound heterozygosity in the UNC13D gene. The patient, who presented typical symptoms, was diagnosed with HLH based on HLH-2004 guidelines...
May 21, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29778032/primary-lymphoma-of-appendix-presenting-as-acute-appendicitis-a-case-report
#2
Giuseppe Caristo, Guido Griseri, Rosario Fornaro, Antonio Langone, Angelo Franceschi, Veronica Errigo, Cecilia Ferrari, Marco Casaccia, Marco Frascio, Angelo Schirru
INTRODUCTION: Primary lymphomas of appendix are extremely rare tumors. The incidence is 0.015% of all gastrointestinal lymphomas. PRESENTATION OF CASE: We present a case of a 75 year-old male patient who presented with acute abdominal pain in the lower right quadrant and fever. DISCUSSION: The patient received laparotomic appendectomy. The definitive histopathological examination revealed the presence of diffuse large cell B-lymphoma of the appendix...
May 7, 2018: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/29773081/long-term-familial-mediterranean-fever-remission-on-successful-hepatitis-c-virus-treatment-in-a-patient-not-responding-to-colchicine-a-case-report
#3
Manik Gemilyan, Gagik Hakobyan, Susanna Ananyan
BACKGROUND: Familial Mediterranean fever is an autosomal recessive disorder characterized by periodic febrile attacks of aseptic serositis and/or arthritis. The main treatment is colchicine which prevents attacks in the majority of patients except for a group of colchicine-resistant cases. Chronic hepatitis C is a viral infection causing chronic inflammation of liver tissue (hepatitis) which ultimately progresses to fibrosis and liver cirrhosis with a high chance of hepatocellular carcinoma...
May 18, 2018: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/29760843/multicenter-study-of-albuterol-use-among-infants-hospitalized-with-bronchiolitis
#4
Anna Condella, Jonathan M Mansbach, Kohei Hasegawa, Peter S Dayan, Ashley F Sullivan, Janice A Espinola, Carlos A Camargo
Introduction: Although bronchiolitis is a common reason for infant hospitalization, significant heterogeneity persists in its management. The American Academy of Pediatrics currently recommends that inhaled albuterol not be used in routine care of children with bronchiolitis. Our objective was to identify factors associated with pre-admission (e.g., emergency department or primary care) use of albuterol among infants hospitalized for bronchiolitis. Methods: We analyzed data from a 17-center observational study of 1,016 infants (age <1 year) hospitalized with bronchiolitis between 2011-2014...
May 2018: Western Journal of Emergency Medicine
https://www.readbyqxmd.com/read/29744960/tepid-massage-for-febrile-children-a-systematic-review-and-meta-analysis
#5
Junghee Lim, Juyoung Kim, Bora Moon, Gaeun Kim
AIM: This study aimed to examine the effect of tepid massage in febrile children comparing with other fever management. METHODS: Experimental studies published in English were included; quasi-experimental research studies were also included in consideration of rare experimental studies in Korean. The search strategy sought to identify published research reports in the English language and covered all major databases up to 2016. The methodological quality of each study was assessed by 2 independent reviewers using a Scottish Intercollegiate Guidelines Network's Methodology Checklist...
May 10, 2018: International Journal of Nursing Practice
https://www.readbyqxmd.com/read/29735830/changing-trends-of-culture-positive-typhoid-fever-and-antimicrobial-susceptibility-in-a-tertiary-care-north-indian-hospital-over-the-last-decade
#6
Priyanka Sharma, Sushila Dahiya, Neelam Manral, Bhavana Kumari, Sambuddha Kumar, Sangeeta Pandey, Seema Sood, Bimal Kumar Das, Arti Kapil
Purpose: The present study was undertaken to analyse the trend in prevalence of culture-positive typhoid fever during the last decade and to determine antimicrobial susceptibility profile of Salmonella Typhi and Salmonella Paratyphi A isolated from patients of enteric fever presenting to our hospital. Methods: All the culture-positive enteric fever cases during 2005-2016 presenting to our Hospital were included in the study. Antimicrobial susceptibility was done against chloramphenicol, amoxicillin, co-trimoxazole, ciprofloxacin, ofloxacin, levofloxacin, pefloxacin, ceftriaxone and azithromycin as per corresponding CLSI guidelines for each year...
January 2018: Indian Journal of Medical Microbiology
https://www.readbyqxmd.com/read/29726966/pattern-of-dengue-virus-infections-in-adult-patients-from-sri-lanka
#7
Umesh Jayarajah, Pradeep K de Silva, Priyankara Jayawardana, Upul Dissanayake, Aruna Kulatunga, Harshini Fernando, Lakshika Perera, Vibhavee Kannangara, Champika Udayangani, Ranga Peiris, Shuaib Faizer, Pamodh Yasawardene, Ishan de Zoysa, Suranjith L Seneviratne
Background: Sri Lanka experienced its largest dengue epidemic in 2017. This study describes the disease pattern of adult dengue patients from two hospitals in Sri Lanka. Methods: Demographic, clinical and investigation findings of adult dengue patients admitted to the two hospitals from June to August 2017 were collected and analysed. Results: A total of 1167 patients (777 males [66.2%], mean age 32.9 y) were studied. There were 775 (66.4%) patients with dengue fever (DF), 334 (28...
May 2, 2018: Transactions of the Royal Society of Tropical Medicine and Hygiene
https://www.readbyqxmd.com/read/29725799/the-timeliness-of-patients-reporting-the-side-effects-of-chemotherapy
#8
Ian Olver, Mariko Carey, Allison Boyes, Alix Hall, Natasha Noble, Jamie Bryant, Justin Walsh, Rob Sanson-Fisher
PURPOSE: To explore the actions cancer patients reported they would take in response to a range of common side effects of chemotherapy and whether these were considered appropriate based on current guidelines and evidence; and to explore the sociodemographic and cancer-related variables associated with patients selecting the appropriate action (immediate medical attention or reporting) for two potentially life-threatening side effects: fever, and unusual bleeding and bruising. METHODS: Four hundred thirty-six medical oncology and haematology patients receiving chemotherapy completed two surveys to provide demographic, disease and treatment characteristics, and details on how they would respond if they experienced a range of specified side effects of chemotherapy (for example, nausea and vomiting, fatigue, and skin rash or nail changes)...
May 3, 2018: Supportive Care in Cancer: Official Journal of the Multinational Association of Supportive Care in Cancer
https://www.readbyqxmd.com/read/29724618/missed-opportunities-in-the-diagnosis-of-human-immunodeficiency-virus-infection-in-the-region-of-aragon-late-diagnosis-importance
#9
César Gargallo-Bernad, Francisco Javier Sangrós-González, Piedad Arazo-Garcés, Rosa Martínez-Álvarez, Carmen Malo-Aznar, Alicia Gargallo-Bernad, Alba Ballester-Luna, Luis Eduardo Cabrero-Pascual, Pablo Gil-Orna, Víctor José Abadía-Gallego, Isabel Torres-Peña, Héctor Ordiz-Suárez
INTRODUCTION: Late Diagnosis (LD) of Human Immunodeficiency Virus (HIV) infection (CD4 lymphocytes <350/μl at diagnosis of the disease), deteriorates the condition of those affected and increases the probability of transmission. The objective of the present study was to analyse the prevalence of LD, to identify missed diagnostic opportunities (MDO) and to find out which level of the health care delivery system they took place. METHODS: Retrospective, observational and descriptive study of the population diagnosed with infection of HIV/AIDS in the period 2011-2015 in Aragon...
April 30, 2018: Enfermedades Infecciosas y Microbiología Clínica
https://www.readbyqxmd.com/read/29721399/emergency-management-of-spontaneous-bacterial-peritonitis-a-clinical-review
#10
REVIEW
Tracy MacIntosh
Spontaneous bacterial peritonitis (SBP) has a high mortality rate; early antimicrobial therapy is essential for improving patient outcomes. Given that cirrhotic patients are often coagulopathic, the perceived risk of bleeding may prevent providers from performing a paracentesis and ruling out this potentially deadly disease. We examine the pathophysiology and risk factors for SBP, and current guidelines for its diagnosis and treatment. We then review the time-sensitive nature of performing a paracentesis, and the current controversies and contraindications for performing this procedure in patients at risk for SBP...
March 1, 2018: Curēus
https://www.readbyqxmd.com/read/29720163/caregivers-compliance-with-referral-advice-evidence-from-two-studies-introducing-mrdts-into-community-case-management-of-malaria-in-uganda
#11
Sham Lal, Richard Ndyomugenyi, Lucy Paintain, Neal D Alexander, Kristian S Hansen, Pascal Magnussen, Daniel Chandramohan, Siân E Clarke
BACKGROUND: Several malaria endemic countries have implemented community health worker (CHW) programmes to increase access to populations underserved by health care. There is considerable evidence on CHW adherence to case management guidelines, however, there is limited evidence on the compliance to referral advice and the outcomes of children under-5 referred by CHWs. This analysis examined whether caregivers complied with CHWs referral advice. METHODS: Data from two cluster (village) randomised trials, one in a moderate-to-high malaria transmission setting, another in a low-transmission setting conducted between January 2010-July 2011 were analysed...
May 2, 2018: BMC Health Services Research
https://www.readbyqxmd.com/read/29718912/microrna-profiles-and-functions-in-mosquitoes
#12
Xinyu Feng, Shuisen Zhou, Jingwen Wang, Wei Hu
Mosquitoes are incriminated as vectors for many crippling diseases, including malaria, West Nile fever, Dengue fever, and other neglected tropical diseases (NTDs). microRNAs (miRNAs) can interact with multiple target genes to elicit biological functions in the mosquitoes. However, characterization and function of individual miRNAs and their potential targets have not been fully determined to date. We conducted a systematic review of published literature following PRISMA guidelines. We summarize the information about miRNAs in mosquitoes to better understand their metabolism, development, and responses to microorganisms...
May 2, 2018: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/29703015/a-case-report-of-a-very-late-response-to-5-azacytidine-in-a-patient-with-lower-risk-myelodysplastic-syndrome-time-to-update-treatment-guidelines-for-lower-risk-patients
#13
Nikolaos Spetsieris, Panagiotis Diamantopoulos, Konstantinos Zervakis, Nefeli Giannakopoulou, Niki Rougala, Georgios Garefalakis, Vasiliki Skarlatou, Nora-Athina Viniou
RATIONALE: The hypomethylating agent 5-azacytidine has been approved in Europe for patients with intermediate 2 and high (i.e., higher) risk myelodysplastic syndrome according to the International Prognostic Scoring System (IPSS). A total of 91% of all first responses in higher risk patients occur within 6 cycles of treatment; however, data regarding the time to first response in clinical trials with lower risk patients are not available. PATIENT CONCERNS: Our case describes the late response of a lower risk (intermediate 1 according to the IPSS and intermediate according to the IPSS-R) patient to 5-azacytidine treatment...
April 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29702253/infectious-disease-profiles-of-syrian-and-eritrean-migrants-presenting-in-europe-a-systematic-review
#14
Egon Isenring, Jan Fehr, Nejla Gültekin, Patricia Schlagenhauf
BACKGROUND: In the past decade, a large influx of migrants presented in Europe. Their country of origin was mainly either Syria or Eritrea. Public health institutions in host countries in Europe are challenged to screen and care for migrant populations with regard to infectious diseases. METHODS: We performed a systematic literature review (according to PRISMA guidelines) to define the infectious disease profile of migrants originating in Syria and Eritrea. RESULTS: The search resulted in 825 papers of possible relevance for infectious diseases in migrants from Syria, of which, after screening, we included 35 in the systematic review...
April 24, 2018: Travel Medicine and Infectious Disease
https://www.readbyqxmd.com/read/29694307/laparoscopic-cholecystectomy-for-acute-cholecystitis-are-intended-operative-approach-timing-and-outcome-affected-by-bmi-a-multicenter-retrospective-study
#15
A Lauro, S Vaccari, M Cervellera, Giuseppina Casella, V D'Andrea, F M Di Matteo, A Panarese, A Santoro, R Cirocchi, V Tonini
BACKGROUND: Laparoscopy is the gold-standard for cholecystectomy after acute cholecystitis, but the issue is controversial in obese subjects. PATIENTS AND METHODS: We reviewed 464 patients operated for acute cholecystitis (59 open and 405 laparoscopic) over the last five years at St Orsola University Hospital-Bologna and Umberto I University Hospital-Rome, comparing retrospectively: 1) BMI < 30 (397 patients) and BMI =/> 30 (67 patients) and moreover 2) BMI < 25 (207 patients) and BMI =/> 25 (257 patients)...
March 2018: Il Giornale di Chirurgia
https://www.readbyqxmd.com/read/29690971/clinical-spectrum-and-outcome-of-cerebral-venous-sinus-thrombosis-in-children
#16
Iram Javed, Tipu Sultan, Zia Ur Rehman, Muhammad Rizwan Yaseen
OBJECTIVE: To determine clinical spectrum, neuroimaging finding and outcome of cerebral venous sinus thrombosis (CVST) in children. STUDY DESIGN: Descriptive and cross-sectional study. PLACE AND DURATION OF STUDY: Department of Paediatric Neurology, Children's Hospital and Institute of Child Health, Lahore, from 2015 to 2016. METHODOLOGY: Data was collected in a predesigned proforma by non-probability purposive sampling technique from all enrolled 32 patients fulfilling the inclusion criteria...
May 2018: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/29690685/-current-status-of-diagnosis-and-treatment-of-community-acquired-pneumonia-in-shanghai-revealed-by-a-questionnaire-analysis
#17
J Liu, J Zhang, Q J Cheng, J F Xu, Z J Jie, Y Jiao, Y Huang, J M Qu
Objective: To understand the current status of diagnosis and treatment of community-acquired pneumonia (CAP) among doctors in various hospitals across Shanghai, for the purpose of promoting the 2016 clinical practice guidelines for adult CAP of China. Methods: A questionnaire was designed to address the common questions in CAP management. The responses were collected via WeChat and the data were analyzed. Results: A total of 1 254 valid questionnaires were received, 46.1% from tertiary , 26.4% from secondary and 27...
April 12, 2018: Chinese Journal of Tuberculosis and Respiratory Diseases
https://www.readbyqxmd.com/read/29684391/a-randomized-control-trial-of-preoperative-prophylactic-antibiotics-prior-to-percutaneous-nephrolithotomy-in-low-infectious-risk-population-a-report-from-the-edge-consortium
#18
Ben H Chew, Nicole L Miller, Joel E Abbott, Dirk Lange, Mitchell R Humphreys, Vernon M Pais, Manoj Monga, Amy E Krambeck, Roger L Sur
INTRODUCTION: Single institution studies suggest a benefit of a week of preoperative antibiotics prior to percutaneous nephrolithotomy (PCNL). These studies are limited by lower quality methodology such as the inclusion of heterogeneous populations or the use of non-standard definitions of sepsis. The American Urological Association (AUA) Best Practice Statement recommends <24 hours of IV antibiotics, but no other data exist about the duration/benefit of preoperative antibiotics. We sought to perform a rigorous (using CONSORT guidelines), multi-institutional trial to assess preoperative antibiotics in PCNL patients at low risk of developing infections...
April 20, 2018: Journal of Urology
https://www.readbyqxmd.com/read/29678190/neonatal-and-congenital-malaria-a-case-series-in-malaria-endemic-eastern-uganda
#19
Peter Olupot-Olupot, Emma I E Eregu, Ketty Naizuli, Julie Ikiror, Linda Acom, Kathy Burgoine
BACKGROUND: Congenital malaria is the direct infection of an infant with malaria parasites from their mother prior to or during birth. Neonatal malaria is due to an infective mosquito bite after birth. Neonatal and congenital malaria (NCM) are potentially life-threatening conditions that are believed to occur at relatively low rates in malaria endemic regions. However, recent reports suggest that the number of NCM cases is increasing, and its epidemiology remains poorly described. NCM can mimic other neonatal conditions and because it is thought to be rare, blood film examinations for malaria are not always routinely performed...
April 20, 2018: Malaria Journal
https://www.readbyqxmd.com/read/29664951/universal-versus-conditional-day-3-follow-up-for-children-with-non-severe-unclassified-fever-at-the-community-level-in-the-democratic-republic-of-the-congo-a-cluster-randomized-community-based-non-inferiority-trial
#20
Luke C Mullany, Elburg W van Boetzelaer, Julie R Gutman, Laura C Steinhardt, Pascal Ngoy, Yolanda Barbera Lainez, Alison Wittcoff, Steven A Harvey, Lara S Ho
BACKGROUND: The World Health Organization's integrated community case management (iCCM) guidelines recommend that all children presenting with uncomplicated fever and no danger signs return for follow-up on day 3 following the initial consultation on day 1. Such fevers often resolve rapidly, however, and previous studies suggest that expectant home care for uncomplicated fever can be safely recommended. We aimed to determine if a conditional follow-up visit was non-inferior to a universal follow-up visit for these children...
April 2018: PLoS Medicine
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