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https://www.readbyqxmd.com/read/29457578/an-undiagnosed-index-case-leading-to-a-nosocomial-scabies-outbreak-how-mass-single-dose-ivermectin-treatment-can-help-control-a-nosocomial-epidemic
#1
Pierre H Boyer, Stéphanie Deboscker, Céline Hernandez, Morgane Ramsheyi, Pauline Schneider, Jacinthe Foeglé, Thierry Lavigne
No abstract text is available yet for this article.
February 19, 2018: Infection Control and Hospital Epidemiology
https://www.readbyqxmd.com/read/29455403/aseptic-central-nervous-system-infections-in-adults-what-predictor-for-unknown-etiological-diagnosis
#2
Jacopo Monticelli, Nicholas Geremia, Pierlanfranco D'Agaro, Vincenzo Petix, Roberto Luzzati
Despite the availability of nucleic acid amplification tests (NAATs), most of aseptic acute meningitides, encephalitides, and meningoencephalitides (AAMEMs) in adults remain of unknown etiology so far. To shed light on such topic, we aimed to evaluate potential predictors for AAMEMs of unknown origin. We collected retrospectively data from all consecutive cases of AAMEMs in adults discharged from an Italian referral hospital, from January 2004 to December 2016. Laboratory analysis included common immunometric methods and NAATs...
February 17, 2018: Neurological Sciences
https://www.readbyqxmd.com/read/29454869/the-intrapartum-and-perinatal-risks-of-sleep-disordered-breathing-in-pregnancy-a-systematic-review-and-meta-analysis
#3
REVIEW
Nicole T Brown, Jessica M Turner, Sailesh Kumar
BACKGROUND: Sleep-disordered breathing is an increasingly common condition in non-obstetric populations and is associated with significant morbidity. The incidence of sleep-disordered breathing in pregnancy is unknown and it is likely that many cases go undiagnosed. OBJECTIVE: A systematic review and meta-analysis was undertaken to determine if pregnant women diagnosed with sleep-disordered breathing are more likely to have adverse intrapartum and perinatal outcomes compared to controls...
February 15, 2018: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29453831/evaluation-of-a-recombinant-multiepitope-antigen-for-diagnosis-of-hepatitis-c-virus-a-lower-cost-alternative-for-antigen-production
#4
Ronaldo Luis Thomasini, Hortencia Gisele Amaro Souza, Oscar Bruna-Romero, Antonio Helvecio Totola, Neiva Sellan Lopes Gonçales, Cristiano Xavier Lima, Mauro Martins Teixeira
BACKGROUND: The most of the hepatitis C-infected patients remain undiagnosed until they develop severe liver damage or submitted for serological screening. OBJECTIVE: To evaluate a recombinant multiepitope protein for detection of IgG anti-hepatitis C virus. METHOD: A synthetic gene was cloned, expressed in Escherichia coli, and the recombinant protein was purified. Human serum panel consisted of 88 positives (20 HCV genotyped) and 376 negatives for hepatitis C, 6 positives for human acquired immunodeficiency virus, 6 syphilis positives, 6 hepatitis B positives were tested by IgG antihepatitis C virus using the protein by enzyme-linked immunosorbent assay...
February 17, 2018: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/29453420/a-multiplex-serologic-platform-for-diagnosis-of-tick-borne-diseases
#5
Rafal Tokarz, Nischay Mishra, Teresa Tagliafierro, Stephen Sameroff, Adrian Caciula, Lokendrasingh Chauhan, Jigar Patel, Eric Sullivan, Azad Gucwa, Brian Fallon, Marc Golightly, Claudia Molins, Martin Schriefer, Adriana Marques, Thomas Briese, W Ian Lipkin
Tick-borne diseases are the most common vector-borne diseases in the United States, with serology being the primary method of diagnosis. We developed the first multiplex, array-based assay for serodiagnosis of tick-borne diseases called the TBD-Serochip. The TBD-Serochip was designed to discriminate antibody responses to 8 major tick-borne pathogens present in the United States, including Anaplasma phagocytophilum, Babesia microti, Borrelia burgdorferi, Borrelia miyamotoi, Ehrlichia chaffeensis, Rickettsia rickettsii, Heartland virus and Powassan virus...
February 16, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29453418/periodic-reanalysis-of-whole-genome-sequencing-data-enhances-the-diagnostic-advantage-over-standard-clinical-genetic-testing
#6
Gregory Costain, Rebekah Jobling, Susan Walker, Miriam S Reuter, Meaghan Snell, Sarah Bowdin, Ronald D Cohn, Lucie Dupuis, Stacy Hewson, Saadet Mercimek-Andrews, Cheryl Shuman, Neal Sondheimer, Rosanna Weksberg, Grace Yoon, M Stephen Meyn, Dimitri J Stavropoulos, Stephen W Scherer, Roberto Mendoza-Londono, Christian R Marshall
Whole-genome sequencing (WGS) as a first-tier diagnostic test could transform medical genetic assessments, but there are limited data regarding its clinical use. We previously showed that WGS could feasibly be deployed as a single molecular test capable of a higher diagnostic rate than current practices, in a prospectively recruited cohort of 100 children meeting criteria for chromosomal microarray analysis. In this study, we report on the added diagnostic yield with re-annotation and reanalysis of these WGS data ~2 years later...
February 16, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29453417/exome-sequencing-has-higher-diagnostic-yield-compared-to-simulated-disease-specific-panels-in-children-with-suspected-monogenic-disorders
#7
Oliver James Dillon, Sebastian Lunke, Zornitza Stark, Alison Yeung, Natalie Thorne, Clara Gaff, Susan M White, Tiong Yang Tan
As test costs decline, whole-exome sequencing (WES) has become increasingly used for clinical diagnosis, and now represents the primary alternative to gene panel testing for patients with a suspected genetic disorder. We sought to compare the diagnostic yield of singleton-WES with simulated application of commercial gene panels in children suspected of having a genetically heterogeneous condition. Recruitment, singleton-WES and phenotype-driven variant analysis was completed for 145 paediatric patients. At recruitment, clinicians were required to propose commercial gene panel tests as an alternative to WES and nominate a phenotype-driven candidate gene list...
February 16, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29452722/traumatic-lingual-hematoma-resulting-in-bilateral-temporal-mandibular-joint-dislocations
#8
Dhara P Amin, Michael N Cooper, Kim I Newton
BACKGROUND: Lingual hematoma (LH) is a relatively uncommon entity seen after both medical and traumatic etiologies. Regardless of the cause, the feared complication is acute airway obstruction. CASE REPORT: Our case involves a 39-year-old man who presented to the Emergency Department via emergency medical services with an enlarging LH after an unwitnessed fall, suspected to be an alcohol withdrawal seizure. The bleeding was likely exacerbated by previously undiagnosed thrombocytopenia...
February 13, 2018: Journal of Emergency Medicine
https://www.readbyqxmd.com/read/29451364/the-prevalence-of-celiac-disease-in-adult-chinese-patients-with-diarrhea-predominant-irritable-bowel-syndrome-of-china-a-prospective-controlled-cohort-study
#9
Guanjun Kou, Jing Guo, Xiuli Zuo, Changqing Li, Chao Liu, Rui Ji, Han Liu, Xiao Wang, Yanqing Li
BACKGROUND: Celiac disease (CD) is a chronic inflammatory enteropathy with a symptom spectrum similar to that of irritable bowel syndrome (IBS). CD is a common, but largely undiagnosed, condition in Western countries. However, it is extremely rare among Chinese people, and few studies have evaluated its prevalence in China. OBJECTIVE: To determine the prevalence of CD in IBS patients diagnosed using the Rome III criteria in North China. METHODS: This was a single-center, prospective, controlled cohort study performed in Qilu Hospital involving 246 IBS patients and 246 healthy controls...
February 16, 2018: Journal of Digestive Diseases
https://www.readbyqxmd.com/read/29450879/genetic-investigation-of-93-families-with-microphthalmia-or-posterior-microphthalmos
#10
N Patel, A O Khan, S Alsahli, G Abdel-Salam, S R Nowilaty, A M Mansour, A Nabil, M Al-Owain, S Sogati, M A Salih, A M Kamal, H Alsharif, H Alsaif, S S Alzahrani, F Abdulwahab, N Ibrahim, M Hashem, T Faquih, Z A Shah, M Abouelhoda, D Monies, M Dasouki, R Shaheen, S Majid, M A Aldahmesh, F S Alkuraya
Microphthalmia is a developmental eye defect that is highly variable in severity and in its potential for systemic association. Despite the discovery of many disease genes in microphthalmia, at least 50% of patients remain undiagnosed genetically. Here, we describe a cohort of 147 patients (93 families) from our highly consanguineous population with various forms of microphthalmia (including the distinct entity of posterior microphthalmos) that were investigated using a next-generation sequencing multi-gene panel (i-panel) as well as whole exome sequencing (WES) and molecular karyotyping...
February 16, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29449551/mutations-in-cfap43-and-cfap44-cause-male-infertility-and-flagellum-defects-in-trypanosoma-and-human
#11
Charles Coutton, Alexandra S Vargas, Amir Amiri-Yekta, Zine-Eddine Kherraf, Selima Fourati Ben Mustapha, Pauline Le Tanno, Clémentine Wambergue-Legrand, Thomas Karaouzène, Guillaume Martinez, Serge Crouzy, Abbas Daneshipour, Seyedeh Hanieh Hosseini, Valérie Mitchell, Lazhar Halouani, Ouafi Marrakchi, Mounir Makni, Habib Latrous, Mahmoud Kharouf, Jean-François Deleuze, Anne Boland, Sylviane Hennebicq, Véronique Satre, Pierre-Simon Jouk, Nicolas Thierry-Mieg, Beatrice Conne, Denis Dacheux, Nicolas Landrein, Alain Schmitt, Laurence Stouvenel, Patrick Lorès, Elma El Khouri, Serge P Bottari, Julien Fauré, Jean-Philippe Wolf, Karin Pernet-Gallay, Jessica Escoffier, Hamid Gourabi, Derrick R Robinson, Serge Nef, Emmanuel Dulioust, Raoudha Zouari, Mélanie Bonhivers, Aminata Touré, Christophe Arnoult, Pierre F Ray
Spermatogenesis defects concern millions of men worldwide, yet the vast majority remains undiagnosed. Here we report men with primary infertility due to multiple morphological abnormalities of the sperm flagella with severe disorganization of the sperm axoneme, a microtubule-based structure highly conserved throughout evolution. Whole-exome sequencing was performed on 78 patients allowing the identification of 22 men with bi-allelic mutations in DNAH1 (n = 6), CFAP43 (n = 10), and CFAP44 (n = 6). CRISPR/Cas9 created homozygous CFAP43/44 male mice that were infertile and presented severe flagellar defects confirming the human genetic results...
February 15, 2018: Nature Communications
https://www.readbyqxmd.com/read/29448188/genotype-phenotype-and-in-silico-pathogenicity-analysis-of-hexb-mutations-panel-based-sequencing-for-differential-diagnosis-of-gangliosidosis
#12
Nejat Mahdieh, Sahar Mikaeeli, Ali Reza Tavasoli, Zahra Rezaei, Majid Maleki, Bahareh Rabbani
OBJECTIVES: Gangliosidosis is an inherited metabolic disorder causing neurodegeneration and motor regression. Preventive diagnosis is the first choice for the affected families due to lack of straightforward therapy. Genetic studies could confirm the diagnosis and help families for carrier screening and prenatal diagnosis. An update of HEXB gene variants concerning genotype, phenotype and in silico analysis are presented. PATIENTS AND METHODS: Panel based next generation sequencing and direct sequencing of four cases were performed to confirm the clinical diagnosis and for reproductive planning...
February 8, 2018: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/29447372/small-fiber-polyneuropathy-is-prevalent-in-patients-experiencing-complex-chronic-pelvic-pain
#13
Annie Chen, Elise De, Charles Argoff
Objective: To demonstrate the prevalence of small fiber polyneuropathy (SFPN) in patients with refractory chronic pelvic pain (CPP). Design: Retrospective study of prospective database. Subjects: Participants were complex CPP patients recruited from subspecity referral clinics defined as those who were refractory to initial treatment and/or exhibited comorbid pain syndromes at initial presentation. Methods: Comprehensive treatment history for CPP was obtained, and participants referred as above; 3-mm punch biopsies were obtained of the lower extremity and sent to diagnostic reference labs to evaluate for SFPN...
February 13, 2018: Pain Medicine: the Official Journal of the American Academy of Pain Medicine
https://www.readbyqxmd.com/read/29440886/missed-diagnosis-and-overtreatment-of-copd-among-smoking-primary-care-population-in-central-greece-old-problems-persist
#14
Eirini Stafyla, Ourania S Kotsiou, Konstantina Deskata, Konstantinos I Gourgoulianis
Background: The diagnosis of COPD is not always consistent with the Global Initiative for Chronic Obstructive Lung Disease (GOLD) strategy in daily clinical practice, especially in primary care. This study aimed to estimate the overall COPD prevalence and severity, to identify differences between newly and previously diagnosed patients, and to evaluate the potential COPD overtreatment in a smoking population attending a primary care spirometry surveillance program. Methods: A study was conducted in 10 primary health care centers of Central Greece during a 7-month period...
2018: International Journal of Chronic Obstructive Pulmonary Disease
https://www.readbyqxmd.com/read/29439698/a-retrospective-analysis-of-bone-mineral-status-in-patients-requiring-spinal-surgery
#15
Tobias Schmidt, Katharina Ebert, Tim Rolvien, Nicola Oehler, Jens Lohmann, Luca Papavero, Ralph Kothe, Michael Amling, Florian Barvencik, Haider Mussawy
BACKGROUND: Impaired bone quality is associated with poor outcome of spinal surgery. The aim of the study was to assess the bone mineral status of patients scheduled to undergo spinal surgery and to report frequencies of bone mineral disorders. METHODS: We retrospectively analyzed the bone mineral status of 144 patients requiring spinal surgery including bone mineral density by dual-energy X-ray absorptiometry (DXA) as well as laboratory data with serum levels of 25-hydroxyvitamin D (25-OH-D), parathyroid hormone, calcium, bone specific alkaline phosphate, osteocalcin, and gastrin...
February 13, 2018: BMC Musculoskeletal Disorders
https://www.readbyqxmd.com/read/29438472/klinefelter-syndrome-integrating-genetics-neuropsychology-and-endocrinology
#16
Claus H Gravholt, Simon Chang, Mikkel Wallentin, Jens Fedder, Philip Moore, Anne Skakkebæk
Although first identified over 70 years ago, Klinefelter syndrome (KS) continue to pose significant diagnostic challenges, as many patients are still misdiagnosed, or remain undiagnosed. In fact, as few as 25% of KS patients are accurately diagnosed, and most of these diagnoses are not made until adulthood. Classic characteristics of KS include small testes, infertility, hypergonadothropic hypogonadism, and cognitive impairment. However, the pathophysiology behind KS is not well understood, although genetic effects are also thought to play a role...
February 9, 2018: Endocrine Reviews
https://www.readbyqxmd.com/read/29435747/clinical-versus-patient-reported-measures-of-depression-in-bariatric-surgery
#17
Sudarshan Srivatsan, Vinay Guduguntla, Kelly Z Young, Aliasghar Arastu, Cameron R Strong, Ruth Cassidy, Amir A Ghaferi
BACKGROUND: Bariatric surgery patients with mental illness may experience worse surgical outcomes compared to those without. Depression is the most prevalent mental health diagnosis amongst Americans with obesity. Accurate diagnosis and treatment is of paramount importance to mitigate perioperative risk. Unfortunately, there is no standard method to screen patients for depression prior to surgery. Our goal was to understand the relationship between traditional clinical screening tools and a novel patient-reported depression screening survey, Patient Health Questionnaire 8 (PHQ-8), in the setting of the bariatric surgery preoperative assessment...
February 12, 2018: Surgical Endoscopy
https://www.readbyqxmd.com/read/29432708/diagnostic-accuracy-of-the-postexercise-ankle-brachial-index-for-detecting-peripheral-artery-disease-in-suspected-claudicants-with-and-without-diabetes
#18
Peta Ellen Tehan, Alex Louise Barwick, Mathew Sebastian, Vivienne Helaine Chuter
The postexercise ankle-brachial index (ABI) is recommended in patients with normal resting ABI when peripheral artery disease (PAD) is suspected. The aims of this study were to determine the comparative diagnostic accuracy of the resting and postexercise ABI for detecting PAD, and, the effect of the presence of diabetes on these. Three methods of interpretation currently in use were also investigated: a reduction in postexercise ABI by >20% compared to resting ABI, an ABI value of ≤0.90 postexercise, or a reduction in systolic ankle pressure of >30 mmHg postexercise...
February 1, 2018: Vascular Medicine
https://www.readbyqxmd.com/read/29432306/parvovirus-b19-associated-hemophagocytic-lymphohistiocytosis-in-a-patient-with-glucose-6-phosphate-dehydrogenase-deficiency
#19
Aida Zečkanović, Matej Perovnik, Janez Jazbec, Miroslav Petrovec, Marko Pokorn, Marko Kavčič
We report a case of a 12-year-old male with glucose-6-phosphate dehydrogenase deficiency presenting with clinical signs of sepsis and pancytopenia. Investigations revealed parvovirus B19 (PVB19)-associated hemophagocytic lymphohistiocytosis (HLH). The patient recovered fully and quickly with symptomatic treatment. Current evidence suggests that PVB19-associated HLH has a favorable prognosis. Mild undiagnosed cases of HLH may be the cause of pancytopenia in PVB19 infections.
February 9, 2018: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29432031/deferred-diagnosis-in-children-assessed-for-fetal-alcohol-spectrum-disorder
#20
Katherine Flannigan, Kamaldeep Gill, Jacqueline Pei, Gail Andrew, Hasu Rajani, Audrey McFarlane, Teresa O'Riordan, Brent Symes, Carmen Rasmussen
Early intervention for individuals with FASD is paramount, thus exploring factors that affect the diagnostic process is critical. This process can be complicated by challenges gathering background information, accurately evaluating higher-level cognitive skills across ages, and teasing apart the impact of life adversities from the effects of prenatal alcohol exposure. This study is a retrospective file review of 154 children (44% female; mean age 8.4 years, range 1.0 to 16.9) deferred at their first FASD assessment, and 51 (43% female; mean 9...
February 12, 2018: Applied Neuropsychology. Child
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