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https://read.qxmd.com/read/30877692/analysis-of-12-chinese-patients-with-proline-to-leucine-mutation-at-codon-102-associated-gerstmann-str%C3%A3-ussler-scheinker-disease
#1
Jing Wang, Kang Xiao, Wei Zhou, Qi Shi, Xiao Ping Dong
BACKGROUND AND PURPOSE: Gerstmann-Sträussler-Scheinker disease (GSS) with a proline-to-leucine mutation at codon 102 (P102L) in the PRNP gene is the most frequently reported GSS subtype worldwide. This study aimed to determine the epidemiological, clinical, genetic, and laboratory characteristics of 12 Chinese patients with P102L-associated GSS (henceforth P102L GSS). METHODS: The enrolled P102L GSS cases were analyzed according to the diagnostic criteria for Creutzfeldt-Jakob disease (CJD) issued by the China National Health Commission...
March 11, 2019: Journal of Clinical Neurology
https://read.qxmd.com/read/30876746/anti-lrp2-nephropathy-with-abundant-igg4-positive-plasma-cells-a-case-report
#2
Kumar P Dinesh, Dean Raniele, Kendall Michels, Rupali S Avasare, Christopher P Larsen, Robert Kayton, Mazdak A Khalighi, Nicole K Andeen
In older adults, the most common kidney biopsy diagnoses include pauci-immune crescentic glomerulonephritis, membranous nephropathy, and focal segmental glomerulosclerosis. Recently, investigators described a small series of older patients (aged 66-80 years) with acute kidney injury and a kidney biopsy demonstrating tubular basement membrane (TBM) immune deposits of polytypic immunoglobulin G (IgG) and C3, acute tubular injury, and tubulointerstitial inflammation. They identified a circulating antibody against kidney tubular low-density lipoprotein (LDL) receptor-related protein 2 (LRP2; also known as megalin) in patients' sera and colocalization of LRP2 with IgG in TBM deposits...
March 12, 2019: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
https://read.qxmd.com/read/30875321/clinical-impact-of-citrate-containing-tubes-on-the-detection-of-glucose-abnormalities-by-the-oral-glucose-tolerance-test
#3
Graziella Bonetti, Davide Giavarina, Mariarosa Carta
Background Plasma glucose levels provide the cornerstone of diabetes evaluation, and so it is crucial that clinical laboratories provide accurate and reliable plasma glucose results. To prevent in vitro glycolysis, citrate is used. Here, we present the first study on the 75-g oral glucose tolerance test (OGTT) using the currently available new citrate-containing tubes in liquid and granular forms and the previous sodium fluoride (NaF) for the diagnosis of carbohydrate metabolism disorders and gestational diabetes mellitus (GDM) according to the American Diabetes Association (ADA) guidelines...
March 15, 2019: Diagnosis
https://read.qxmd.com/read/30874941/clinical-course-of-hantavirus-induced-nephropathia-epidemica-in-children-compared-to-adults-in-germany-analysis-of-317-patients
#4
Fabian Echterdiek, Daniel Kitterer, M Dominik Alscher, Vedat Schwenger, Bettina Ruckenbrod, Martin Bald, Joerg Latus
BACKGROUND: Hantavirus infections are endemic worldwide, and its incidence in Europe has been steadily increasing. In Western Europe, hantavirus infections are typically caused by Puumala hantavirus and cause nephropathia epidemica (NE), a mild form of haemorrhagic fever with renal syndrome. Up to now, there is only little data about the course of acute NE in children, but it has been suggested that hantavirus infections take a lighter course in children when compared to adults. We performed a retrospective analysis of adults and children diagnosed with acute NE in two counties in South-Western Germany to investigate if there are differences in the course of the disease...
March 14, 2019: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://read.qxmd.com/read/30874515/comparison-of-secondary-prevention-in-coronary-heart-disease-patients-living-in-rural-and-urban-areas
#5
Salih Kılıç, Erhan Saraçoğlu, Yusuf Çekici, Arafat Yıldırım, Zülfiye Kuzu, Dilara Deniz Kılıç, Meral Kayıkçıoglu
OBJECTIVE: The aim of the present study was to assess differences between urban and rural patients with coronary heart disease (CHD) with respect to secondary prevention. METHODS: This cross-sectional study included all consecutive patients diagnosed with CHD at 2 cardiology clinics between January 2016 and January 2017. The demographic characteristics and laboratory parameters were recorded at routine control visits. The patients were divided into 2 groups according to residence based on their statements: urban (n=1752) and rural (n=456)...
March 2019: Türk Kardiyoloji Derneği Arşivi: Türk Kardiyoloji Derneğinin Yayın Organıdır
https://read.qxmd.com/read/30873274/atypical-event-related-potentials-revealed-during-the-passive-parts-of-a-go-nogo-task-in-autism-spectrum-disorder-a-case-control-study
#6
Anne L Høyland, Terje Nærland, Morten Engstrøm, Tonje Torske, Stian Lydersen, Ole A Andreassen
Background: The core features of autism spectrum disorder (ASD) are easily recognizable in non-structured clinical and real-life situations. The features are often difficult to capture in structured laboratory settings, and the results from tests do not necessarily reflect symptom severity. We investigated neurophysiological processing in the passive parts of a cued Go-NoGo task, using the active parts of the test as a comparator. Methods: Forty-nine adolescents diagnosed with ASD and 49 typically developing (TD) adolescents (age 12-21 years) were included...
2019: Molecular Autism
https://read.qxmd.com/read/30872103/implications-of-identifying-the-recently-defined-members-of-the-s-aureus-complex-s-argenteus-and-s-schweitzeri-a-position-paper-of-members-of-the-escmid-study-group-for-staphylococci-and-staphylococcal-diseases-esgs
#7
REVIEW
Karsten Becker, Frieder Schaumburg, Angela Kearns, Anders R Larsen, Jodi A Lindsay, Robert L Skov, Henrik Westh
BACKGROUND: Staphylococcus argenteus and Staphylococcus schweitzeri, previously known as divergent Staphylococcus aureus clonal lineages, have been recently established as novel, difficultly delimitable, coagulase-positive species within the S.aureus complex. Methicillin-resistant S.argenteus are known from Australia and U.K.. Knowledge on their epidemiology, medical significance and transmission risk is limited and partly contradictory, thus, hampering definitive recommendations. There is mounting evidence that S...
March 11, 2019: Clinical Microbiology and Infection
https://read.qxmd.com/read/30871718/pulmonary-embolism-in-very-elderly-patients-a-diagnostic-challenge
#8
L C García Gómez, L Castilla Guerra, M Gandullo Moro, R Cano Alba, M Paniagua García, M Á Colmenero Camacho
BACKGROUND: Diagnosing pulmonary embolisms can be challenging, given that its presentation shares clinical manifestations with other conditions. For patients 80 years of age or older, the healthcare challenge increases due to associated comorbidity when compared with younger patients (<80 years). OBJECTIVE: The aim of our study was to report the incidence of pulmonary embolism in elderly patients in our setting and identify differences in the clinical manifestations, comorbidity and laboratory parameters between these 2 groups of patients...
March 11, 2019: Revista Clínica Española
https://read.qxmd.com/read/30871662/initiation-of-anti-tuberculosis-treatment-in-children-following-gastric-aspirate-testing-botswana-2008-2012
#9
T Q Lo, L Matlhare, K Mugisha, T D Lere, A Ho-Foster, R Boyd, J Cavanaugh, R Ncube, A P Steenhoff, T Arscott-Mills
SETTING: Diagnosing pediatric tuberculosis (TB) is difficult; to improve diagnosis , gastric aspiration (GA) was performed in 121 Botswana health facilities. OBJECTIVE: To describe treatment initiation and outcomes in children with a positive GA result and those treated empirically. METHODS: Children with smear or culture-positive GA or those clinically diagnosed were referred for anti-tuberculosis treatment. Treatment initiation and outcomes were assessed from February 2008 to December 2012 using name-based matching algorithms of the GA database; treatment initiation was captured in the electronic TB registry...
March 1, 2019: International Journal of Tuberculosis and Lung Disease
https://read.qxmd.com/read/30871659/point-of-care-hba-1c-level-for-diabetes-mellitus-management-and-its-accuracy-among-tuberculosis-patients-a-study-in-four-countries
#10
P Huangfu, Y V Laurence, B Alisjahbana, C Ugarte-Gil, A-L Riza, G Walzl, R Ruslami, D A J Moore, M Ioana, S McAllister, K Ronacher, R C Koesoemadinata, D Grint, S Kerry, J Coronel, S T Malherbe, U Griffiths, H M Dockrell, P C Hill, R van Crevel, F Pearson, J A Critchley
BACKGROUND: Diabetes mellitus (DM) is common among tuberculosis (TB) patients and often undiagnosed or poorly controlled. We compared point of care (POC) with laboratory glycated haemoglobin (HbA1c ) testing among newly diagnosed TB patients to assess POC test accuracy, safety and acceptability in settings in which immediate access to DM services may be difficult. METHODS: We measured POC and accredited laboratory HbA1c (using high-performance liquid chromatography) in 1942 TB patients aged 18 years recruited from Peru, Romania, Indonesia and South Africa...
March 1, 2019: International Journal of Tuberculosis and Lung Disease
https://read.qxmd.com/read/30871483/rapid-identification-of-brucella-sepsis-osteomyelitis-in-a-6-year-old-febrile-patient-with-matrix-assisted-laser-desorption-ionization-time-of-flight-mass-spectrometry-directly-from-positive-blood-culture-a-case-report
#11
Junfei Guo, Weiming Lai, Biting Li, Lingling Tang, Yongbing Wu, Yasha Luo, Chengyi Liu, Weiming Lu, Xiaoping Mu
BACKGROUND: Brucella is high-consequence pathogen and one of the most common seen laboratory- acquired infection pathogens. Quick and accurate detection of the pathogen will be of great important to reducing laboratory- acquired infection. Traditional biomedical reaction based method is time consumption, and mass spectrometry based method greatly reduces time consumption in pathogen identification. In the case presented here, we shared our experience in identification of Brucella directly from positive blood culture with mass spectrometry based method...
March 11, 2019: BMC Infectious Diseases
https://read.qxmd.com/read/30870741/preterm-premature-rupture-of-the-membranes-guidelines-for-clinical-practice-from-the-french-college-of-gynaecologists-and-obstetricians-cngof
#12
REVIEW
Thomas Schmitz, Loïc Sentilhes, Elsa Lorthe, Denis Gallot, Hugo Madar, Muriel Doret-Dion, Gaël Beucher, Caroline Charlier, Charles Cazanave, Pierre Delorme, Charles Garabédian, Elie Azria, Véronique Tessier, Marie-Victoire Sénat, Gilles Kayem
In France, the frequency of premature rupture of the membranes (PROM) is 2%-3% before 37 weeks' gestation (level of evidence [LE] 2) and less than 1% before 34 weeks (LE2). Preterm delivery and intrauterine infection are the major complications of preterm PROM (PPROM) (LE2). Prolongation of the latency period is beneficial (LE2). Compared with other causes of preterm delivery, PPROM is associated with a clear excess risk of neonatal morbidity and mortality only in cases of intrauterine infection, which is linked to higher rates of in utero fetal death (LE3), early neonatal infection (LE2), and necrotizing enterocolitis (LE2)...
March 2, 2019: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://read.qxmd.com/read/30870656/post-thrombotic-syndrome-short-and-long-term-incidence-and-risk-factors
#13
Yvonne M Ende-Verhaar, Lidwine W Tick, Frederikus A Klok, Menno V Huisman, Frits R Rosendaal, Saskia le Cessie, Suzanne C Cannegieter
BACKGROUND: The reported incidences of post-thrombotic syndrome (PTS) after deep vein thrombosis (DVT) vary. Further, PTS symptom development over time and its long-term incidence are unknown. METHODS: Patients included in the MEGA study were interviewed at 1 year and completed a questionnaire at 8 years of follow-up regarding symptoms and signs of PTS based on the Villalta score after a first DVT diagnosis. The cumulative incidence of PTS at 0-1 and 1-8 year, changes in PTS classification and the effect of possible clinical and laboratory risk factors were determined...
March 6, 2019: Thrombosis Research
https://read.qxmd.com/read/30870438/increased-uptake-of-early-initiation-of-antiretroviral-therapy-and-baseline-drug-resistance-testing-in-san-francisco-between-2001-and-2015
#14
Hong-Ha M Truong, Sharon Pipkin, Robert M Grant, Teri Liegler, Kara J O'Keefe, Susan Scheer
BACKGROUND: Early initiation of antiretroviral therapy (eiART) can improve clinical outcomes for persons with HIV and reduce onward transmission risk. Baseline drug resistance testing (bDRT) can inform regimen selection upon subsequent treatment initiation. We examined the uptake of eiART and bDRT within 3 months and 30 days of HIV diagnosis. METHODS: We analyzed a population-based sample from the San Francisco Department of Public Health HIV/AIDS Case Registry of newly-diagnosed HIV/non-AIDS individuals between 2001 and 2015 who received care at publicly-funded facilities (N = 3,124)...
2019: PloS One
https://read.qxmd.com/read/30870353/sudden-sensorineural-hearing-loss-in-children-clinical-characteristics-etiology-treatment-outcomes-and-prognostic-factors
#15
Yuqing Lu, Liangqiang Zhou, Tejvansh Shenoy Imrit, Aiguo Liu
OBJECTIVE: To investigate the clinical characteristics, etiology, treatment outcomes, and prognostic factors of sudden sensorineural hearing loss (SSNHL) in children to guide the clinical diagnosis and treatment of SSNHL in the pediatric population. STUDY DESIGN: Retrospective case review. SETTING: Tertiary referral center. PATIENTS: Patients diagnosed with SSNHL from November 2011 to December 2017 with relatively complete clinical data...
April 2019: Otology & Neurotology
https://read.qxmd.com/read/30868117/epilepsy-in-tuberous-sclerosis-complex-findings-from-the-tosca-study
#16
Rima Nabbout, Elena Belousova, Mirjana P Benedik, Tom Carter, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Lisa D Amato, Guillaume Beaure d'Augères, Petrus J de Vries, José C Ferreira, Martha Feucht, Carla Fladrowski, Christoph Hertzberg, Sergiusz Jozwiak, John A Lawson, Alfons Macaya, Ruben Marques, Finbar O'Callaghan, Jiong Qin, Valentin Sander, Matthias Sauter, Seema Shah, Yukitoshi Takahashi, Renaud Touraine, Sotiris Youroukos, Bernard Zonnenberg, Anna Jansen, John C Kingswood
Objective: To present the baseline data of the international TuberOus SClerosis registry to increase disease Awareness (TOSCA) with emphasis on the characteristics of epilepsies associated with tuberous sclerosis complex (TSC). Methods: Retrospective and prospective patients' data on all aspects of TSC were collected from multiple countries worldwide. Epilepsy variables included seizure type, age at onset, type of treatment, and treatment outcomes and association with genotype, seizures control, and intellectual disability...
March 2019: Epilepsia Open
https://read.qxmd.com/read/30868020/unprepared-and-misinformed-parents-of-children-with-sickle-cell-disease-time-to-rethink-awareness-campaigns
#17
Seyi Aderotoye-Oni, Ijeoma N Diaku-Akinwumi, Adeyinka Adeniran, Bode Falase
Worldwide, sickle cell disease (SCD) poses a significant public health concern. It causes recurrent morbidity, and premature death is a distinct possibility, especially in Nigeria, which bears half the world's burden of SCD patients. Nigeria has yet to establish a newborn screening program; consequently, most affected children are diagnosed between one and three years of age when a health problem arises. Parents are unprepared to identify SCD and seek comprehensive management early enough for the best outcome...
December 31, 2018: Curēus
https://read.qxmd.com/read/30867693/effect-of-baicalin-on-renal-function-in-patients-with-diabetic-nephropathy-and-its-therapeutic-mechanism
#18
Mingzheng Yang, Lin Kan, Lianye Wu, Yingchun Zhu, Qing Wang
The present study observed the effect of baicalin on blood glucose and renal function in patients with diabetic nephropathy and explored its mechanism of action. A total of 95 patients diagnosed with diabetic nephropathy by clinical and laboratory examinations were selected and randomly divided into a control and treatment group. The control group included 45 patients who were treated with routine symptomatic treatment. The remaining 50 patients in the treatment group received baicalin, in addition to routine symptomatic treatment...
March 2019: Experimental and Therapeutic Medicine
https://read.qxmd.com/read/30867243/pretreatment-hemoglobin-as-an-independent-prognostic-factor-in-primary-central-nervous-system-lymphomas
#19
My Le, Ytel Garcilazo, Maria-José Ibáñez-Juliá, Nadia Younan, Louis Royer-Perron, Marion Benazra, Karima Mokhtari, Caroline Houillier, Khê Hoang-Xuan, Agusti Alentorn
BACKGROUND: Primary central nervous system lymphoma (PCNSL) is a rare subtype of extranodal lymphoma. Despite established clinical prognostic scoring such as that of the Memorial Sloan Kettering Cancer Center (MSKCC) and the International Extranodal Lymphoma Study Group, outcome prediction needs to be improved. Several studies have indicated an association between changes in hematologic laboratory parameters with patient outcomes in PCNSL. We sought to assess the association between hematological parameters and overall survival (OS) in patients with PCNSL...
March 13, 2019: Oncologist
https://read.qxmd.com/read/30865535/clinical-recognition-and-management-of-patients-with-prediabetes
#20
Jane W Njeru, M Regina Castro, Karina Gonzalez Carta, Gyorgy Simon, Pedro J Caraballo
OBJECTIVE: Early identification and management of prediabetes is critical to prevent progression to diabetes. We aimed to assess whether prediabetes is appropriately recognized and managed among patients with impaired fasting glucose (IFG). METHODS: Observational study of Olmsted County residents evaluated at Mayo Clinic between 1999-2017. We randomly selected 108 subjects with biochemical criteria of IFG and 105 normoglycemic subjects. We reviewed their health records at baseline (1999-2004) and during follow up (2005-2017) collecting demographic and clinical data including vitals, diagnoses, laboratory and medications associated to cardiovascular comorbidities...
March 13, 2019: Endocrine Practice
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