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https://www.readbyqxmd.com/read/28743157/her2-mutations-in-lung-adenocarcinomas-a-report-from-the-lung-cancer-mutation-consortium
#1
Rathi N Pillai, Madhusmita Behera, Lynne D Berry, Mike R Rossi, Mark G Kris, Bruce E Johnson, Paul A Bunn, Suresh S Ramalingam, Fadlo R Khuri
BACKGROUND: Human epidermal growth factor receptor 2 (HER2) mutations have been reported in lung adenocarcinomas. Herein, the authors describe the prevalence, clinical features, and outcomes associated with HER2 mutations in 1007 patients in the Lung Cancer Mutation Consortium (LCMC). METHODS: Patients with advanced-stage lung adenocarcinomas were enrolled to the LCMC. Tumor specimens were assessed for diagnosis and adequacy; multiplexed genotyping was performed in Clinical Laboratory Improvement Amendments (CLIA)-certified laboratories to examine 10 oncogenic drivers...
July 25, 2017: Cancer
https://www.readbyqxmd.com/read/28743126/frontal-cortex-and-hippocampal-%C3%AE-secretase-activating-protein-levels-in-prodromal-alzheimer-disease
#2
Sylvia E Perez, Muhammad Nadeem, Michael H Malek-Ahmadi, Bin He, Elliott J Mufson
BACKGROUND: β-Amyloid (Aβ) is the product of concerted cleavage of the amyloid precursor protein (APP) by β- and γ-secretases. However, the molecular mechanisms that regulate this process are not well understood. Recently, evidence was reported that γ-secretase activating protein (GSAP, 16 kDa), derived from a larger precursor protein (98 kDa), plays a role in Aβ metabolism through a mechanism involving its interaction with both γ-secretase and APP. However, a detailed evaluation of GSAP protein levels and their association with clinical and neuropathological variables are lacking during the clinical progression of Alzheimer disease (AD)...
July 26, 2017: Neuro-degenerative Diseases
https://www.readbyqxmd.com/read/28743122/utility-of-transbronchial-lung-cryobiopsy-in-non-interstitial-diseases
#3
Olivia Sánchez-Cabral, Dina Martínez-Mendoza, Sebastián Fernandez-Bussy, Berenice López-González, Carolina Perea-Talamantes, Rosa María Rivera-Rosales, César Luna-Rivero, José Arturo Martínez-Orozco, Luis Felipe Flores-Suárez, Patricio Santillán-Doherty, Gustavo Reyes-Terán
BACKGROUND: Transbronchial lung cryobiopsy (TLCB), performed with a flexible cryoprobe, is an interventional pulmonology procedure that has proved its diagnostic value for interstitial pulmonary disease. However, it has not been explored extensively as a diagnostic tool for patients with non-interstitial lung pathology, including infectious and malignant diseases. OBJECTIVE: To evaluate the diagnostic yield and safety of an interventional pulmonology approach that integrates TLCB and bronchoalveolar lavage (BAL) for the diagnosis of non-interstitial pulmonary disease...
July 26, 2017: Respiration; International Review of Thoracic Diseases
https://www.readbyqxmd.com/read/28743115/cerebrospinal-fluid-levels-of-14-3-3-gamma-what-does-it-tell-us-about-sporadic-creutzfeldt-jakob-disease
#4
Christian Humpel, Thomas Benke
Clinical diagnosis of Creutzfeldt-Jakob disease (CJD) can be supported by the analysis of Tau and 14-3-3 in the cerebrospinal fluid (CSF). In this short report, we report about a retrospective analysis performed on 2,296 routinely collected CSF samples, and 44 samples with a ratio of phosphoTau181/Tau <0.075 were selected. Analysis was performed with a novel 14-3-3 gamma CircuLex Elisa. We show that control levels were around 6,000 AU/mL and samples from Alzheimer patients were not different from those collected from healthy controls...
July 26, 2017: Pharmacology
https://www.readbyqxmd.com/read/28743110/clinical-endocrine-and-molecular-genetic-analysis-of-a-large-cohort-of-saudi-arabian-patients-with-laron-syndrome
#5
Abdullah A Al-Ashwal, Afaf Al-Sagheir, Khushnooda Ramzan, Mohammed Al-Owain, Rabab Allam, Alya Qari, Nouf S Al-Numair, Faiqa Imtiaz
BACKGROUND/AIMS: Laron syndrome (LS) is an autosomal recessive disease characterized by marked short stature and very low serum IGF-1 and IGFBP-3 levels. This study assessed the clinical and endocrine features alongside determining the growth hormone receptor gene (GHR) mutation in Saudi Arabian patients with LS in order to establish whether or not a genotype/phenotype correlation is evident in this large cohort. SUBJECTS AND METHODS: A total of 40 Saudi Arabian patients with a suspected diagnosis of LS were recruited and subjected to a full clinical and endocrine investigation together with direct sequencing of the coding regions of the GHR gene...
July 25, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28742994/unusual-case-of-a-massive-macroglossia-secondary-to-myxedema-a-case-report-and-literature-review
#6
James C Melville, Kelsey D Menegotto, Timothy C Woernley, Blake D Maida, Ibrahim Alava
Macroglossia is classified as true macroglossia, which exhibits abnormal histology with clinical findings, and relative macroglossia, in which normal histology does not correlate with pathologic enlargement. This report describes an atypical case of morbidity with massive macroglossia secondary to myxedema; the macroglossia enlarged over a 3-month period before being presented to the Department of Oral and Maxillofacial Surgery, University of Texas Health Sciences Center at Houston (Houston, TX). Substantial enlargement of the tongue (16 cm long × 10 cm wide) was first attributed to angioedema, which was refractory to the discontinuation of lisinopril and a C1 esterase inhibitor...
June 30, 2017: Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28742871/comprehensive-immune-profiling-reveals-substantial-immune-system-alterations-in-a-subset-of-patients-with-amyotrophic-lateral-sclerosis
#7
Michael P Gustafson, Nathan P Staff, Svetlana Bornschlegl, Greg W Butler, Mary L Maas, Mohamed Kazamel, Adeel Zubair, Dennis A Gastineau, Anthony J Windebank, Allan B Dietz
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with a median lifespan of 2-3 years after diagnosis. There are few meaningful treatments that alter progression in this disease. Preclinical and clinical studies have demonstrated that neuroinflammation may play a key role in the progression rate of ALS. Despite this, there are no validated biomarkers of neuroinflammation for use in clinical practice or clinical trials. Biomarkers of neuroinflammation could improve patient management, provide new therapeutic targets, and possibly help stratify clinical trial selection and monitoring...
2017: PloS One
https://www.readbyqxmd.com/read/28742722/attention-deficit-hyperactivity-disorder-and-functional-defecation-disorders-in-children
#8
Sophie Kuizenga-Wessel, Ilan J N Koppen, Mana H Vriesman, Carlo Di Lorenzo, Marieke van Dijk, Maureen L R Beelen, Michael Groeneweg, Reino J Stoffelsen, Marc A Benninga
OBJECTIVES: To assess the prevalence of attention deficit hyperactivity disorder (ADHD) in children presenting with functional defecation disorders (FDDs) and to assess the prevalence of FDDs in children with ADHD. METHODS: A cross-sectional cohort study was carried out between September 2014 and May 2016. Group 1: Parents of children with FDDs according to the Rome III criteria completed the Child Behavior Checklist (CBCL) and the VvGK (Dutch questionnaire based on the American Disruptive Behavior Disorder rating scale)...
July 22, 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/28742712/specialist-physicians-attitudes-and-practice-patterns-regarding-disclosure-of-pre-referral-medical-errors
#9
Lesly A Dossett, Rondi M Kauffmann, Jay S Lee, Harkamal Singh, M Catherine Lee, Arden M Morris, Reshma Jagsi, Gwendolyn P Quinn, Justin B Dimick
OBJECTIVE: Our objective was to determine specialist physicians' attitudes and practices regarding disclosure of pre-referral errors. SUMMARY BACKGROUND DATA: Physicians are encouraged to disclose their own errors to patients. However, no clear professional norms exist regarding disclosure when physicians discover errors in diagnosis or treatment that occurred at other institutions before referral. METHODS: We conducted semistructured interviews of cancer specialists from 2 National Cancer Institute-designated Cancer Centers...
July 24, 2017: Annals of Surgery
https://www.readbyqxmd.com/read/28742702/trends-on-axillary-surgery-in-nondistant-metastatic-breast-cancer-patients-treated-between-2011-and-2015-a-dutch-population-based-study-in-the-acosog-z0011-and-amaros-era
#10
Ingrid G M Poodt, Pauline E R Spronk, Guusje Vugts, Thijs van Dalen, M T F D Vrancken Peeters, Marjolijn L Rots, Anne Kuijer, Grard A P Nieuwenhuijzen, Robert-Jan Schipper
OBJECTIVES: To evaluate patterns of care in axillary surgery for Dutch clinical T1-4N0M0 (cT1-4N0M0) breast cancer patients and to assess the effect of the American College for Surgeons Oncology Group (ACOSOG)-Z0011 and After Mapping of the Axilla: Radiotherapy Or Surgery (AMAROS) trial on axillary surgery patterns in Dutch cT1-2N0M0 sentinel node positive breast cancer patients. BACKGROUND: Since publication of the ACOSOG-Z0011 and AMAROS trial, omitting a completion axillary lymph node dissection (cALND) in sentinel node positive breast cancer patients is proposed in selected patients...
July 24, 2017: Annals of Surgery
https://www.readbyqxmd.com/read/28742698/survival-benefit-of-neoadjuvant-treatment-in-clinical-t3n0m0-esophageal-cancer-results-from-a-retrospective-multicenter-european-study
#11
Styliani Mantziari, Caroline Gronnier, Florence Renaud, Alain Duhamel, Jérémie Théreaux, Cécile Brigand, Nicolas Carrère, Jérémie H Lefevre, Arnaud Pasquer, Nicolas Demartines, Denis Collet, Bernard Meunier, Christophe Mariette
BACKGROUND: Based on current guidelines, clinical T3N0M0 esophageal tumors may or may not receive neoadjuvant treatment, according to their perception as locally advanced (cT3) or early-stage tumors (stage II). The study aim was to assess the impact of neoadjuvant treatment upon survival for cT3N0M0 esophageal cancer patients, with subgroup analyses by histological type (squamous cell carcinoma vs adenocarcinoma) and type of neoadjuvant treatment (chemotherapy vs radiochemotherapy). METHODS: Data from patients operated on for esophageal cancer in 30 European centers were collected...
July 24, 2017: Annals of Surgery
https://www.readbyqxmd.com/read/28742629/noonan-syndrome-an-underestimated-cause-of-severe-to-profound-sensorineural-hearing-impairment-which-clues-to-suspect-the-diagnosis
#12
Alban Ziegler, Natalie Loundon, Laurence Jonard, Hélène Cavé, Geneviève Baujat, Souad Gherbi, Vincent Couloigner, Sandrine Marlin
OBJECTIVE: To highlight Noonan syndrome as a clinically recognizable cause of severe to profound sensorineural hearing impairment. STUDY DESIGN: New clinical cases and review. SETTING: Patients evaluated for etiological diagnosis by a medical geneticist in a reference center for hearing impairment. PATIENTS: Five patients presenting with confirmed Noonan syndrome and profound sensorineural hearing impairment. INTERVENTIONS: Diagnostic and review of the literature...
July 24, 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28742549/readmissions-for-recurrent-sepsis-new-or-relapsed-infection
#13
Kimberley Marie DeMerle, Stephanie C Royer, Mark E Mikkelsen, Hallie C Prescott
OBJECTIVES: Sepsis hospitalizations are frequently followed by hospital readmissions, often for recurrent sepsis. However, it is unclear how often sepsis readmissions are for relapsed/recrudescent versus new infections. The aim of this study was to assess the extent to which 90-day readmissions for recurrent sepsis are due to infection of the same site and same pathogen as the initial episode. DESIGN: Retrospective cohort study. SETTING: University of Michigan Health System...
July 22, 2017: Critical Care Medicine
https://www.readbyqxmd.com/read/28742543/one-hundred-twenty-one-resected-solid-pseudopapillary-tumor-of-the-pancreas-an-8-year-single-institution-experience-at-zhongshan-hospital-shanghai-china
#14
Yadong Xu, Guochao Zhao, Ning Pu, Abulimiti Nuerxiati, Yuan Ji, Lei Zhang, Yefei Rong, Wenhui Lou, Dansong Wang, Tiantao Kuang, Xuefeng Xu, Wenchuan Wu
OBJECTIVES: The aims of this study were to introduce our experience with treating patients with pancreatic solid pseudopapillary tumors (SPTs) and to investigate the clinical risk factors for recurrence of SPTs because no consensus has been established to date. METHODS: One hundred twenty-one patients underwent surgical resection from January 2008 to December 2015 in our institution. Clinical data were collected from the standardized reports. RESULTS: Of the 121 patients, 93 (76...
July 24, 2017: Pancreas
https://www.readbyqxmd.com/read/28742538/anaphylaxis-and-intimate-behaviour
#15
Gennaro Liccardi, Marco Caminati, Gian Enrico Senna, Luigino Calzetta, Paola Rogliani
PURPOSE OF REVIEW: Intimate behaviours may represent an unusual way of exposure to a culprit allergen, or the frame for sex-related allergies due to triggers typically linked to that situation. The present review aims at summarizing the state of the art about the topic, in order to spread the awareness and the basic know-how in the field of sexual-related allergies. RECENT FINDINGS: Kiss-related IgE-mediated reactions are caused in sensitized partners mainly by the passive transport of allergenic molecules through saliva, skin or oral mucosa...
July 22, 2017: Current Opinion in Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28742518/severe-hypertriglyceridemia-at-new-onset-type-1-diabetes-mellitus
#16
Tyler Fick, Julie Jack, Amy L Pyle-Eilola, Rohan K Henry
BACKGROUND: Severe hypertriglyceridemia (HTG) as well as diabetic ketoacidosis (DKA) are complications of type 1 diabetes (T1DM). HTG is an exceedingly rare complication in the pediatric population and herein we report a case of HTG at new-onset T1DM in DKA and discuss management and potential complications. CASE PRESENTATION: An 11-year-old previously well patient with a history of fatigue and weight loss presented with: glucose >600 mg/dL, venous blood gas: pH 7...
July 25, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28742514/the-importance-of-biochemical-and-genetic-findings-in-the-diagnosis-of-atypical-norrie-disease
#17
Ana Rodríguez-Muñoz, Gema García-García, Francisco Menor, José M Millán, Miguel Tomás-Vila, Teresa Jaijo
BACKGROUND: Norrie disease (ND) is a rare X-linked disorder characterized by bilateral congenital blindness. ND is caused by a mutation in the Norrie disease pseudoglioma (NDP) gene, which encodes a 133-amino acid protein called norrin. Intragenic deletions including NDP and adjacent genes have been identified in ND patients with a more severe neurologic phenotype. We report the biochemical, molecular, clinical and radiological features of two unrelated affected males with a deletion including NDP and MAO genes...
July 25, 2017: Clinical Chemistry and Laboratory Medicine: CCLM
https://www.readbyqxmd.com/read/28742507/severe-neurological-abnormalities-in-a-young-boy-with-impaired-thyroid-hormone-sensitivity-due-to-a-novel-mutation-in-the-mct8-gene
#18
Teresa Rego, Carmen Gomez Lado, Paloma Cabanas Rodríguez, Francisco Sousa Santos, Francisco Barros Angueira, Lidia Castro-Feijóo, Jesús Barreiro Conde, Manuel Castro-Gago
Monocarboxylate transporter 8 (MCT8) is an active and specific thyroid hormone transporter into neurons. MCT8 mutations cause an X-linked condition known as Allan-Herndon-Dudley syndrome and are characterized by impaired psychomotor development and typical abnormal thyroid function. We describe a 10-year-old boy with severe cognitive disability, axial hypotonia, spastic quadriplegia and sporadic dyskinetic episodes. He initially presented with thyroid dysfunction (high FT3, low rT3, low FT4 and normal TSH) and generalized retardation of the cerebral and cerebellar myelination in brain magnetic resonance imaging...
April 2017: Hormones: International Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28742467/polycystic-ovary-syndrome-in-adolescents-which-mr-imaging-based-diagnostic-criteria
#19
Maxime Fondin, Antoine Rachas, Van Huynh, Stéphanie Franchi-Abella, Jean-Paul Teglas, Lise Duranteau, Catherine Adamsbaum
Purpose To evaluate the validity and reproducibility of magnetic resonance (MR) imaging-based ovarian morphologic measurements for diagnosis of polycystic ovary syndrome (PCOS) in adolescents. Materials and Methods This case-control study included 110 adolescent girls (age range, 13-17 years) who underwent pelvic MR imaging in 2006-2015. The case group included girls with high (n = 40, hyperandrogenism and oligomenorrhea or amenorrhea), intermediate (n = 8, hyperandrogenism), or low (n = 7, oligomenorrhea or amenorrhea) suspicion of PCOS...
July 25, 2017: Radiology
https://www.readbyqxmd.com/read/28742394/assessment-of-proteomic-measures-across-serious-psychiatric-illness
#20
S Charles Schulz, Shauna Overgaard, David J Bond, Rajesh Kaldate
The diagnoses of serious psychiatric illnesses, such as schizophrenia, schizoaffective disorder, and bipolar disorder, rely on the subjective recall and interpretation of often overlapping symptoms, and are not based on the objective pathophysiology of the illnesses. The subjectivity of symptom reporting and interpretation contributes to the delay of accurate diagnoses and limits effective treatment of these illnesses. Proteomics, the study of the types and quantities of proteins an organism produces, may offer an objective biological approach to psychiatric diagnosis...
2017: Clinical Schizophrenia & related Psychoses
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