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https://www.readbyqxmd.com/read/29909407/familial-forms-of-cushing-syndrome-in-primary-pigmented-nodular-adrenocortical-disease-presenting-with-short-stature-and-insidious-symptoms-a-clinical-series
#1
Constanza Navarro Moreno, Amaury Delestienne, Etienne Marbaix, Selda Aydin, Konstanze Hörtnagel, Sarah Lechner, Yves Sznajer, Véronique Beauloye, Dominique Maiter, Philippe A Lysy
Cushing syndrome (CS) is a rare disease in children, frequently associated with subtle or periodic symptoms that may delay its diagnosis. Weight gain and growth failure, the hallmarks of hypercortisolism in pediatrics, may be inconsistent, especially in ACTH-independent forms of CS. Primary pigmented nodular adrenocortical disease (PPNAD) is the rarest form of ACTH-independent CS, and can be associated with endocrine and nonendocrine tumors, forming the Carney complex (CNC). Recently, phenotype/genotype correlations have been described with particular forms of CNC where PPNAD is isolated or associated only with skin lesions...
June 15, 2018: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29909386/transdermal-rotigotine-patch-in-parkinson-s-disease-with-a-history-of-intestinal-operation
#2
Takashi Ogawa, Genko Oyama, Nobutaka Hattori
A 42-year-old Japanese man with a history of small intestine resection and familial Mediterranean fever was referred to our hospital for a second opinion on parkinsonism. At the age of 35, the patient attended a hospital due to impaired left-hand movement and resting tremor. He was previously diagnosed with multiple system atrophy based on the lack of effectiveness of levodopa treatment. With suspicion of malabsorption due to his history of ileostomy, a levodopa challenge test with levodopa intravenous infusion was conducted, and revealed a 65% improvement in Movement Disorder Society-sponsored revision of the Unified Parkinson's Disease Rating Scale part III...
June 15, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29908982/intracardiac-tumors-with-extracardiac-extension-diagnosed-by-eus-fna-via-ebus
#3
Terunaga Inage, Takahiro Nakajima, Yuki Sata, Taiki Fujiwara, Syunichiro Iwasawa, Yuichi Takiguchi, Yukio Nakatani, Ichiro Yoshino
Obtaining biopsies for pathological diagnosis of primary cardiac tumors is challenging due to their anatomical location and the risk of tumor embolization. Due to the difficulty of histological diagnosis and limited treatment strategies, it is not uncommon to treat patients based on radiological findings alone. However, firm pathological diagnosis may permit more appropriate treatment selection, especially for those with primary cardiac lymphoma. EUS-B-FNA is a minimally invasive modality for sampling mediastinal lymph nodes and mediastinal lesions adjacent to the esophagus...
June 14, 2018: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/29908691/pancreatic-enzyme-replacement-therapy-following-surgery-for-pancreatic-cancer-an-exploration-of-patient-self-management
#4
Lisa Dunleavy, Ahmed Al-Mukhtar, Vanessa Halliday
BACKGROUND: For those diagnosed with pancreatic cancer, ill-addressed pancreatic exocrine insufficiency (PEI) following surgery can result in malnutrition related complications that may impact on predict mortality and morbidity. The use of pancreatic enzyme replacement therapy (PERT) is recommended and often demands a degree of patient self-management. Understanding more about how this treatment is managed is fundamental to optimising care. OBJECTIVE: This study aimed to explore patient self-management of PERT following surgery for pancreatic cancer...
August 2018: Clinical Nutrition ESPEN
https://www.readbyqxmd.com/read/29908517/high-sensitive-cardiac-troponin-hs-tnt-levels-in-sudden-deaths-related-to-atherosclerotic-coronary-artery-disease
#5
Tim Beausire, Mohamed Faouzi, Cristian Palmiere, Tony Fracasso, Katarzyna Michaud
INTRODUCTION: Ischemic heart disease (IHD) related to atherosclerotic coronary artery disease (CAD) is one of the most prevalent causes of death in Europe. Postmortem evaluation of IHD remains a challenge because of possible non-specific autopsy finding in some autopsy cases, especially in early myocardial ischemia. High-sensitive cardiac troponin T (hs-TnT) is used today in clinical practice as the "gold standard" to diagnose the myocardial ischemia, and might also be applied as an ancillary tool for post-mortem evaluation...
June 4, 2018: Forensic Science International
https://www.readbyqxmd.com/read/29908152/reducing-readmissions-in-patients-with-both-heart-failure-and-chronic-obstructive-pulmonary-disease
#6
REVIEW
Ravi Kalhan, R Kannan Mutharasan
Patients with both chronic obstructive pulmonary disease (COPD) and heart failure (HF) pose particularly high costs to the healthcare system. These diseases arise from similar root causes, have overlapping symptoms, and share similar clinical courses. Because of these strong parallels, strategies to reduce readmissions in patients with both conditions share synergies. Here we present 10 practical tips to reduce readmissions in this challenging population. 1: Diagnose the population accurately. 2: Detect admissions for exacerbations early and consider risk-stratification...
June 13, 2018: Chest
https://www.readbyqxmd.com/read/29907939/feasibility-of-quantitative-ultrasonography-for-the-detection-of-metabolic-bone-disease-in-preterm-infants-systematic-review
#7
REVIEW
Liting Tong, Jaya Sujatha Gopal-Kothandapani, Amaka C Offiah
Metabolic bone disease of prematurity is characterised by disordered bone mineralisation and is therefore an increased fracture risk. Preterm infants are especially at risk due to incomplete in utero bone accretion during the last trimester. Currently, diagnosing metabolic bone disease mainly relies on biochemistry and radiographs. Dual-energy x-ray absorptiometry and quantitative ultrasound (US) are used less frequently. However, biochemical measurements correlate poorly with bone mineralisation and although scoring systems exist for metabolic bone disease, radiographs are subjective and do not detect early features of osteopenia...
June 16, 2018: Pediatric Radiology
https://www.readbyqxmd.com/read/29907802/evaluating-the-role-of-public-health-in-implementation-of-genomics-related-recommendations-a-case-study-of-hereditary-cancers-using-the-cdc-science-impact-framework
#8
REVIEW
Ridgely Fisk Green, Mary Ari, Katherine Kolor, W David Dotson, Scott Bowen, Nancy Habarta, Juan L Rodriguez, Lisa C Richardson, Muin J Khoury
Public health plays an important role in ensuring access to interventions that can prevent disease, including the implementation of evidence-based genomic recommendations. We used the Centers for Disease Control and Prevention (CDC) Science Impact Framework to trace the impact of public health activities and partnerships on the implementation of the 2009 Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Lynch Syndrome screening recommendation and the 2005 and 2013 United States Preventive Services Task Force (USPSTF) BRCA1 and BRCA2 testing recommendations...
June 15, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29907799/utility-and-limitations-of-exome-sequencing-as-a-genetic-diagnostic-tool-for-children-with-hearing-loss
#9
Sarah Sheppard, Sawona Biswas, Mindy H Li, Vijayakumar Jayaraman, Ian Slack, Edward J Romasko, Ariella Sasson, Joshua Brunton, Ramakrishnan Rajagopalan, Mahdi Sarmady, Jenica L Abrudan, Sowmya Jairam, Elizabeth T DeChene, Xiahoan Ying, Jiwon Choi, Alisha Wilkens, Sarah E Raible, Maria I Scarano, Avni Santani, Jeffrey W Pennington, Minjie Luo, Laura K Conlin, Batsal Devkota, Matthew C Dulik, Nancy B Spinner, Ian D Krantz
PURPOSE: Hearing loss (HL) is the most common sensory disorder in children. Prompt molecular diagnosis may guide screening and management, especially in syndromic cases when HL is the single presenting feature. Exome sequencing (ES) is an appealing diagnostic tool for HL as the genetic causes are highly heterogeneous. METHODS: ES was performed on a prospective cohort of 43 probands with HL. Sequence data were analyzed for primary and secondary findings. Capture and coverage analysis was performed for genes and variants associated with HL...
June 15, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29907798/congenital-hyperinsulinism-as-the-presenting-feature-of-kabuki-syndrome-clinical-and-molecular-characterization-of-10-affected-individuals
#10
Kai Lee Yap, Amy E Knight Johnson, David Fischer, Priscilla Kandikatla, Jacea Deml, Viswateja Nelakuditi, Sara Halbach, George S Jeha, Lindsay C Burrage, Olaf Bodamer, Valeria C Benavides, Andrea M Lewis, Sian Ellard, Pratik Shah, Declan Cody, Alejandro Diaz, Aishwarya Devarajan, Lisa Truong, Siri Atma W Greeley, Diva D De Leó-Crutchlow, Andrew C Edmondson, Soma Das, Paul Thornton, Darrel Waggoner, Daniela Del Gaudio
PURPOSE: Describe the clinical and molecular findings of patients with Kabuki syndrome (KS) who present with hypoglycemia due to congenital hyperinsulinism (HI), and assess the incidence of KS in patients with HI. METHODS: We documented the clinical features and molecular diagnoses of 10 infants with persistent HI and KS via a combination of sequencing and copy-number profiling methodologies. Subsequently, we retrospectively evaluated 100 infants with HI lacking a genetic diagnosis, for causative variants in KS genes...
June 15, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29907359/three-dimensional-shaping-technique-for-coil-placement-using-the-steam-shaped-microcatheter-for-ruptured-blood-blister-like-aneurysm
#11
N Shinoda, M Mori, S Tamura, K Korosue, S Kose, E Kohmura
Treatment of blood blister-like aneurysm (BBA) is a challenge due to its unfavourable morphology, small size and the friable neck of BBA. In the management of ruptured BBA, coil placement can be achieved by stent-assisted coil embolisation. We propose to incorporate a new technique using a steam-shaped microcatheter to improve safety. A 59-year-old woman was transferred to our hospital and diagnosed with subarachnoid haemorrhage (SAH) due to a ruptured BBA of the left internal carotid artery (ICA) at the C2 portion...
June 12, 2018: Neuro-Chirurgie
https://www.readbyqxmd.com/read/29907150/comparing-the-income-related-inequity-of-tested-prevalence-and-self-reported-prevalence-of-hypertension-in-china
#12
Min Su, Yafei Si, Zhongliang Zhou, Chi Shen, Wanyue Dong, Xiaojing Fan, Xiao Wang, Xiaolin Wei
BACKGROUND: Hypertension has become a global health challenge given its high prevalence and but low awareness and detection. Whether the actual prevalence of hypertension has been estimated is important, especially for the poor. This study aimed to measure tested prevalence and self-reported prevalence of hypertension and compare the inequity between them in China. METHODS: Data were derived from China Health and Nutrition Survey (CHNS) conducted in 2011. By using the multistage, stratified, random sampling method, 12,168 respondents aged 18 or older were identified for analysis...
June 15, 2018: International Journal for Equity in Health
https://www.readbyqxmd.com/read/29907140/undiagnosed-maternal-diaphragmatic-hernia-a-management-dilemma
#13
Maya Reddy, Annie Kroushev, Kirsten Palmer
BACKGROUND: Maternal diaphragmatic hernias identified during pregnancy are rare and pose significant management challenges with regards to timing and mode of both delivery and hernia repair. CASE PRESENTATION: We describe a case of a maternal diaphragmatic hernia diagnosed at 31 weeks gestation in the setting of acute upper abdominal pain. Due to no evidence of visceral compromise and a stable maternal condition, the patient was conservatively managed, allowing for further foetal maturation...
June 15, 2018: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/29906740/diagnostic-challenges-in-clinical-radiological-and-histopathological-tests-regarding-papillomatous-lesions-of-the-breast
#14
Birgitte Bruun Rasmussen, Eva Balslev, Ib Jarle Christensen, Charlotte Lanng, Anne Bak, Hanne Galatius, Maj-Lis Møller Talman, Nahid Sharghi Someh, Ilse Vejborg, Mette Okholm
Papillomas of the female breast is a relatively frequent lesion, and the majority are benign when excised. However, some may host malignant or premalignant areas. Consequently, it is a worldwide accepted principle to excise the lesion whenever diagnosed. However, this leads to a large number of patients having an unnecessary operation. The present study was designed to investigate whether we could find clinical, radiological and pathological factors in the preoperative, diagnostic setting that could identify patients hosting a benign papilloma in order to avoid operation...
May 22, 2018: Breast: Official Journal of the European Society of Mastology
https://www.readbyqxmd.com/read/29906691/intraductal-tubulopapillary-neoplasm-of-the-pancreas-presenting-as-recurrent-acute-pancreatitis-a-case-report
#15
Sodai Sakamoto, Yosuke Tsuruga, Yuki Fujii, Hiroki Shomura, Atsuo Hattori, Keizo Kazui
INTRODUCTION: The 2010 World Health Organization classification of intraductal neoplasms of the pancreas includes intraductal tubulopapillary neoplasms (ITPNs) and intraductal papillary mucinous neoplasms, the latter being a rare and new concept. ITPN sometimes cause acute pancreatitis; therefore, distinguishing ITPN from idiopathic acute pancreatitis is important but challenging. PRESENTATION OF CASE: We present the case of a 72-year-old male who had recurrent pancreatitis for the past 2 years, his diagnosis was idiopathic acute pancreatitis...
June 4, 2018: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/29906503/isolation-and-profiling-of-plasma-micrornas-biomarkers-for-asthma-and-allergic-rhinitis
#16
Ronaldo P Panganiban, Kristin A Lambert, Man-Hsun Hsu, Zoe Laryea, Faoud T Ishmael
Chronic inflammatory diseases can be particularly challenging to diagnose and characterize, as inflammatory changes in tissue may not be present in blood. There is a crucial need to develop non-invasive biomarkers that would be useful in diagnosing disease and selecting medical therapies. For example, there are no blood tests to diagnose asthma, a common inflammatory lung disease. MicroRNA (miRNA) expression profiling in blood is emerging as a potentially sensitive and useful biomarker of many diseases. In particular, we have characterized a cost-effective PCR-based array technology to measure and profile circulating miRNAs in the plasma of patients with allergic rhinitis and asthma...
June 12, 2018: Methods: a Companion to Methods in Enzymology
https://www.readbyqxmd.com/read/29906408/the-potential-for-liquid-biopsies-in-head-and-neck-cancer
#17
Matthew E Spector, Janice L Farlow, Catherine T Haring, J Chad Brenner, Andrew C Birkeland
Head and neck cancers consist of a heterogeneous group of cancers that are difficult to treat successfully. Limited screening options result in patients being diagnosed at advanced stages at presentation, and difficulty with treatment options and post-treatment surveillance can lead to poor outcomes. In this setting, tools for early and precise detection of disease will be highly valuable. Liquid biopsies, or use of analytes in blood, saliva, and other body fluid samples, provide new avenues for cancer screening with the potential for early detection, treatment modification, and surveillance of head and neck cancers...
May 2018: Discovery Medicine
https://www.readbyqxmd.com/read/29906004/teledermatology-leading-to-an-important-diagnosis-in-an-underserved-clinic
#18
Diego M Da Silva, Rudolf R Roth, Cory L Simpson
Cutaneous signs can be the first manifestation of important medical diagnoses, including inherited cancer syndromes, but access to dermatologic evaluation is especially challenging for uninsured patients. Herein, we present a case in which a volunteer academic teledermatology triage program was used by a community health clinic to make a diagnosis of multiple cutaneous leiomyomas, which confer a high likelihood of hereditary leiomyomatosis and renal cell cancer syndrome, also known as Reed syndrome; this prompted malignancy screening for the patient...
April 15, 2018: Dermatology Online Journal
https://www.readbyqxmd.com/read/29905638/the-columbia-thyroid-eye-disease-compressive-optic-neuropathy-formula
#19
Alison B Callahan, Ashley A Campbell, Susel Oropesa, Aryeh Baraban, Michael Kazim
PURPOSE: Diagnosing thyroid eye disease-compressive optic neuropathy (TED-CON) is challenging, particularly in cases lacking a relative afferent pupillary defect. Large case series of TED-CON patients and accessible diagnostic tools are lacking in the current literature. This study aims to create a mathematical formula that accurately predicts the presence or absence of CON based on the most salient clinical measures of optic neuropathy. METHODS: A retrospective case series compares 108 patients (216 orbits) with either unilateral or bilateral TED-CON and 41 age-matched patients (82 orbits) with noncompressive TED...
June 13, 2018: Ophthalmic Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/29905583/contact-lens-solutions-and-contact-lens-discomfort-examining-the-correlations-between-solution-components-keratitis-and-contact-lens-discomfort
#20
Christopher J Kuc, Kenneth A Lebow
OBJECTIVES: This article will examine the current literature, as it relates to contact lens discomfort (CLD) secondary to contact lens solutions. The reader will better understand the characteristics of contact lenses, as they uniquely interact with each type of contact lens solution and also gain a better comprehension of the components of contact lens solution such as preservatives, surfactants, and chelating agents, which may contribute to discomfort. By investigating corneal staining theory and the mechanisms that contribute to its presence, the reader will gain insight into this clinical finding, which relates to selection of contact lens solutions...
June 13, 2018: Eye & Contact Lens
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