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https://www.readbyqxmd.com/read/27913818/-amyloid-positron-emission-tomography-with-18-%C3%A2-f-florbetaben-in-the-diagnostic-workup-of-dementia-patients
#1
S Schönecker, C Prix, T Raiser, N Ackl, E Wlasich, G Stenglein-Krapf, E Mille, M Brendel, O Sabri, M Patt, H Barthel, P Bartenstein, J Levin, A Rominger, A Danek
BACKGROUND: To this day the definite diagnosis of Alzheimer's disease still relies on post-mortem histopathological detection of neurofibrillary tangles and beta-amyloid deposits. Amyloid positron emission tomography (PET) is a new diagnostic tool that enables the in vivo quantification of pathological beta-amyloid deposits. The aim of the current study was to evaluate to what extent (18)F-florbetaben-PET (FBB-PET) influences the diagnosis of patients with dementia. MATERIAL AND METHODS: Imaging with FBB-PET was performed on 33 patients from our outpatient department for cognitive neurology...
December 2, 2016: Der Nervenarzt
https://www.readbyqxmd.com/read/27913609/ap2s1-and-gna11-mutations-not-a-common-cause-of-familial-hypocalciuric-hypercalcemia
#2
Silje Hovden, Lars Rejnmark, Søren A Ladefoged, Peter H Nissen
OBJECTIVE: Familial hypocalciuric hypercalcemia (FHH) type 1 is caused by mutations in the gene encoding the calcium-sensing receptor (CASR). Recently, mutations affecting codon 15 in the gene AP2S1 have been shown to cause FHH type 3 in up to 26% of CASR-negative FHH patients. Similarly, mutations in the gene GNA11 have been shown to cause FHH type 2. We hypothesized that mutations in AP2S1 and GNA11 are causative in Danish patients with suspected FHH and that these mutations are not found in patients with primary hyperparathyroidism (PHPT), which is the main differential diagnostic disorder...
February 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/27913581/a-proteomic-approach-to-analyse-the-aspirin-mediated-lysine-acetylome
#3
Michael H Tatham, Christian Cole, Paul Scullion, Ross Wilkie, Nicholas J Westwood, Lesley A Stark, Ronald T Hay
Aspirin, or acetylsalicylic acid is widely used to control pain, inflammation and fever. Important to this function is its ability to irreversibly acetylate cyclooxygenases at active site serines. Aspirin has the potential to acetylate other amino-acid side-chains, leading to the possibility that aspirin-mediated lysine acetylation could explain some of its as-yet unexplained drug actions or side-effects. Using isotopically labeled aspirin-d3, in combination with acetylated lysine purification and LC-MS/MS, we identified over 12000 sites of lysine acetylation from cultured human cells...
December 2, 2016: Molecular & Cellular Proteomics: MCP
https://www.readbyqxmd.com/read/27913464/new-challenges-in-evaluating-anemia-in-older-persons-in-the-era-of-molecular-testing
#4
David P Steensma
Anemia is common in older persons, and often remains unexplained despite a thorough clinical history, physical examination, and focused laboratory testing, including marrow aspiration, biopsy, and karyotyping. The advent of molecular genetic testing panels in hematology clinical practice has complicated the evaluation of older patients with unexplained anemia. While the presence of a somatic mutation provides evidence of clonal hematopoiesis and may support a diagnosis of a hematologic neoplasm such as one of the myelodysplastic syndromes (MDS), with rare exceptions, individual mutations are not strongly associated with one specific diagnosis, nor are they by themselves diagnostic of neoplasia...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27913251/unmapped-reads-from-cattle-rnaseq-data-a-source-for-missing-and-misassembled-sequences-in-the-reference-assemblies-and-for-detection-of-pathogens-in-the-host
#5
Tahir Usman, Frieder Hadlich, Wiebke Demasius, Rosemarie Weikard, Christa Kühn
Usually, reads from transcriptome sequencing data unmapped to the target species reference genome are disregarded. A recent RNAseq project on the new fatal disease Bovine Neonatal Pancytopenia had indicated an unexplained immune response signature to a double stranded RNA virus. To unravel its background, contigs were de novo assembled from unmapped RNAseq reads and aligned against the bovine genome assemblies and multispecies NCBI databases. Lack of genuine virus sequence contigs rejected the hypothesis of a live virus being causal for the unexplained immune response...
November 29, 2016: Genomics
https://www.readbyqxmd.com/read/27913068/occult-infratemporal-fossa-neurofibroma-presenting-with-persistent-unilateral-tinnitus-and-middle-ear-effusion-more-than-meets-the-eye
#6
Lucas P Carlstrom, Kathryn M Van Abel, Matthew L Carlson, Eric J Moore, Janalee K Stokken
Herein, we present the case of a previously healthy 54year-old female who developed several weeks of unilateral tinnitus and aural fullness. She subsequently underwent unilateral pressure equalization tube placement at an outside institution after exam demonstrated a middle ear effusion, conductive hearing loss and normal nasopharyngoscopy. Ultimately, an MRI revealed an occult mass in the infratemporal fossa (ITF), which was successfully removed via an endoscopic transnasal ITF approach. Following resection of a histopathologically confirmed benign neurofibroma, she reported complete resolution of her symptoms...
November 23, 2016: American Journal of Otolaryngology
https://www.readbyqxmd.com/read/27911828/evaluating-the-evaluation-of-cancer-driver-genes
#7
Collin J Tokheim, Nickolas Papadopoulos, Kenneth W Kinzler, Bert Vogelstein, Rachel Karchin
Sequencing has identified millions of somatic mutations in human cancers, but distinguishing cancer driver genes remains a major challenge. Numerous methods have been developed to identify driver genes, but evaluation of the performance of these methods is hindered by the lack of a gold standard, that is, bona fide driver gene mutations. Here, we establish an evaluation framework that can be applied to driver gene prediction methods. We used this framework to compare the performance of eight such methods. One of these methods, described here, incorporated a machine-learning-based ratiometric approach...
November 22, 2016: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/27910804/sudden-cardiac-death-a-nationwide-cohort-study-among-the-young
#8
Bjarke Risgaard
Sudden cardiac death (SCD) is a tragic event affecting millions of individuals worldwide. Although several studies have investigated the epidemiology of SCD, these studies may have been affected by reporting and referral biases, which are reflected in the very different incidence rates and causes of deaths that have previously been reported. Among SCD victims aged < 36 years, inherited cardiac diseases are well known to play an important role. However, the extent to which inherited cardiac diseases also play a role in SCD victims aged < 50 years has not been completely described...
December 2016: Danish Medical Journal
https://www.readbyqxmd.com/read/27909952/environment-and-spatial-influences-on-aquatic-insect-communities-in-cerrado-streams-the-relative-importance-of-conductivity-altitude-and-conservation-areas
#9
B S Godoy, L L Queiroz, S Lodi, L G Oliveira
The aquatic insect community is an important element for stream functionality and diversity, but the effects of altitude and conservation areas on the aquatic insect community have been poorly explored in neotropical ecozone. The lack of studies about the relative importance of space and environment on community structure is another obstacle within aquatic insect ecology, which precludes the inclusion of these studies in more current frameworks, like the metacommunity dynamics. We evaluated the relationship between the aquatic insect community structure at 19 streams in the Brazilian Cerrado and spatial and environmental variables, namely geographical distance among sites, stream altitude, chemical variables, and environmental protection areas...
December 1, 2016: Neotropical Entomology
https://www.readbyqxmd.com/read/27909691/6q24-transient-neonatal-diabetes-how-to-manage-while-waiting-for-genetic-results
#10
Julie Fudvoye, Khaldoun Farhat, Virginie De Halleux, Corina Ramona Nicolescu
Diabetes, rare in the neonatal period, should be evoked in every newborn presenting with unexplained intrauterine and early postnatal growth retardation. This case report illustrates the clinical course and therapeutic approach of a newborn diagnosed with transient diabetes. The baby was born at 37 weeks of gestation with a severe intrauterine growth restriction. Except a mild macroglossia and signs of growth restriction, physical examination was normal. On the fifth day of life, hyperglycemia (180 mg/dl) was noted, and the next day, the diagnosis of diabetes was confirmed (high blood sugar, glucosuria, undetectable levels of insulin and C-peptide)...
2016: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/27909532/ajmaline-challenge-to-unmask-infrahisian-disease-in-patients-with-recurrent-and-unexplained-syncope-preserved-ejection-fraction-with-or-without-conduction-abnormalities-on-surface-ecg
#11
Francesco Pentimalli, Luca Bacino, Matteo Ghione, Giambattista Siri, Massimo Gazzarata, Paolo Bellotti
Background: Pharmacological challenge with class I antiarrhythmic drug is a recommended diagnostic test in patients with unexplained syncope only in the presence of bundle branch block, when non-invasive tests have failed to make the diagnosis. Its role in patients with minor or no conduction disturbances on 12-leads ECG has not been evaluated yet. It is also not clear which are the values of His-Ventricular interval to be considered diagnostic. We sought to evaluate the role of ajmaline challenge in unmasking the presence of an infrahisian disease in patients with recurrent and unexplained syncope, regardless of the existence of conduction disturbances on surface ECG...
August 2016: Journal of Atrial Fibrillation
https://www.readbyqxmd.com/read/27908224/serum-substance-p-concentrations-to-predict-oocyte-maturation-index-and-clinical-pregnancy
#12
Yavuz Sahin, Enis Özkaya, Semra Kayatas Eser, Tayfun Kutlu, Ilhan Sanverdi, Gulden Tunali, Ates Karateke
AIM: The aim of this study was to assess the predictive value of serum substance P (SP) concentrations on oocyte maturation and clinical pregnancy. METHODS: Ninety-three women with unexplained infertility underwent intracytoplasmic sperm injection (ICSI) cycles. Antagonist protocol was started for each participant and at the day of oocyte pick up, serum samples were obtained from each participant to assess SP concentrations, and these concentrations were utilized to predict mature/total oocyte ratio and clinical pregnancy...
December 2, 2016: Gynecological Endocrinology
https://www.readbyqxmd.com/read/27905648/-a-new-fetal-death-classification-system
#13
Alfredo Ovalle, Ariel Fuentes, Valentina Chacón, Carolina Espinoza, Rodrigo González, Manuel Ramos, Jorge Geraldo, Letsy Osses, Elena Kakarieka
BACKGROUND: Stillbirth is the mayor contributor to perinatal mortality. AIM: To report a system for classification of fetal deaths. MATERIAL AND METHODS: Retrospective cohort study of 29,916 births with 258 fetal deaths that occurred in a public hospital. Data were obtained from audit reports of stillbirths. The method for classification “obstetric condition relevant to the death” was applied, based on obstetric and placental pathological findings analyzed exclusively by a single obstetrician and a single pathologist...
August 2016: Revista Médica de Chile
https://www.readbyqxmd.com/read/27905341/heidenhain-variant-of-creutzfeldt-jakob-disease-in-a-patient-who-had-bovine-bioprosthetic-valve-implantation
#14
Jehard Hashoul, Waleed Saliba, Irina Bloch, Haneen Jabaly-Habib
Creutzfeldt-Jakob disease (CJD) is a rare neurodegenerative disorder characterized by rapidly progressing dementia, general neurologic deterioration, and death. When the leading symptoms are visual disturbances, it is termed as the Heidenhain variant of CJD (HvCJD). CJD was reported following prion-contaminated pericardium transplants but never after bovine bioprosthetic cardiac valve. In this case report, we describe HvCJD in a patient who had a bovine bioprosthetic cardiac valve implant. An 82-year-old-woman was referred to neuro-ophthalmology clinic for unexplained visual loss that started 1 month previously...
October 2016: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/27905264/biotin-thiamine-responsive-basal-ganglia-disease-catastrophic-consequences-of-delay-in-diagnosis-and-treatment
#15
Hussein Algahtani, Saeed Ghamdi, Bader Shirah, Bader Alharbi, Raghad Algahtani, Abdulrahman Bazaid
BACKGROUND: Biotin-thiamine-responsive basal ganglia disease (BTBGD) is an autosomal recessive neurometabolic disorder caused by mutations in the SLC19A3 gene. The disease is characterized by subacute encephalopathy with confusion, dysphagia, dysarthria, and seizures. METHODS: We diagnosed a family affected by BTBGD and studied them including prognosis of cases when diagnosed and treated early in the disease process. We also review the literature comprehensively and summarize all published data about this disorder...
December 1, 2016: Neurological Research
https://www.readbyqxmd.com/read/27905001/guidelines-for-diagnosis-and-management-of-the-cobalamin-related-remethylation-disorders-cblc-cbld-cble-cblf-cblg-cblj-and-mthfr-deficiency
#16
Martina Huemer, Daria Diodato, Bernd Schwahn, Manuel Schiff, Anabela Bandeira, Jean-Francois Benoist, Alberto Burlina, Roberto Cerone, Maria L Couce, Angeles Garcia-Cazorla, Giancarlo la Marca, Elisabetta Pasquini, Laura Vilarinho, James D Weisfeld-Adams, Viktor Kožich, Henk Blom, Matthias R Baumgartner, Carlo Dionisi-Vici
BACKGROUND: Remethylation defects are rare inherited disorders in which impaired remethylation of homocysteine to methionine leads to accumulation of homocysteine and perturbation of numerous methylation reactions. OBJECTIVE: To summarise clinical and biochemical characteristics of these severe disorders and to provide guidelines on diagnosis and management. DATA SOURCES: Review, evaluation and discussion of the medical literature (Medline, Cochrane databases) by a panel of experts on these rare diseases following the GRADE approach...
November 30, 2016: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/27904815/pneumorrhachis-resulting-in-transient-paresis-after-picc-line-insertion-into-the-ascending-lumbar-vein
#17
Russell Payne, Emily P Sieg, Arabinda Choudhary, Mark Iantosca
Obtaining intravascular access in the neonatal intensive care unit (NICU) is not only critical but also technically challenging. Malposition of the catheter tip is a known and well-documented complication. Specifically, peripherally inserted central venous catheter (PICC) line insertion into the ascending lumbar vein can lead to neurological dysfunction and, in some cases, even death. We present the first reported case of pneumorrhachis (PR) following PICC line insertion into the ascending lumbar vein. Our patient presented with lower extremity weakness and imaging confirmed the presence of air within the spinal canal...
October 17, 2016: Curēus
https://www.readbyqxmd.com/read/27903669/exertional-dyspnoea-in-obesity
#18
Vipa Bernhardt, Tony G Babb
The purpose of cardiopulmonary exercise testing (CPET) in the obese person, as in any cardiopulmonary exercise test, is to determine the patient's exercise tolerance, and to help identify and/or distinguish between the various physiological factors that could contribute to exercise intolerance. Unexplained dyspnoea on exertion is a common reason for CPET, but it is an extremely complex symptom to explain. Sometimes obesity is the simple answer by elimination of other possibilities. Thus, distinguishing among multiple clinical causes for exertional dyspnoea depends on the ability to eliminate possibilities while recognising response patterns that are unique to the obese patient...
December 2016: European Respiratory Review: An Official Journal of the European Respiratory Society
https://www.readbyqxmd.com/read/27902331/the-plasma-virome-of-febrile-adult-kenyans-shows-frequent-parvovirus-b19-infections-and-a-novel-arbovirus-kadipiro-virus
#19
Carolyne Ngoi, Juliana Siqueira, Linlin Li, Xutao Deng, Peter Mugo, Susan Graham, Matt Price, Eduard Sanders, Eric Delwart
Viral nucleic acids present in the plasma of 498 Kenyan adults with unexplained fever were characterized by metagenomics analysis of 51 sample pools. The highest to lowest fraction of plasma pools was positive for parvovirus B19 (75%), pegivirus C (GBV-C) (67%), alpha anellovirus (59%), gamma anellovirus (55%), beta anellovirus (41%), Dengue virus genotype 2 (DENV-2) (16%), HIV-1 (6%), HHV-6 (6%), HBV (4%), rotavirus (4%), norovirus (4%), rhinovirus C (2%), Merkel cell polyomavirus (MCPyV)(2%) and Kadipiro virus (2%)...
October 24, 2016: Journal of General Virology
https://www.readbyqxmd.com/read/27899248/unexplained-increases-in-serum-vancomycin-concentration-in-a-morbidly-obese-patient
#20
REVIEW
Sean P Kane, Scott D Hanes
INTRODUCTION: To report a case of increases in vancomycin concentrations without additional vancomycin doses being given. CASE STUDY: A 64 year-old morbidly obese female received three total doses of vancomycin for surgical prophylaxis and for ventilator-associated pneumonia. Subsequent vancomycin concentrations from the patient's central venous catheter (CVC) demonstrated increasing drug levels from 27.1 to 45.9mcg/mL despite no additional vancomycin being given and proper line flushing prior to sample collection...
November 26, 2016: Intensive & Critical Care Nursing: the Official Journal of the British Association of Critical Care Nurses
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