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Christoph Niemietz, Christoph Röcken, Matthias Schilling, Jörg Stypman, Constantin E Uhlig, Hartmut H-J Schmidt
Transthyretin-related Familial Amyloid Polyneuropathy (ATTR Amyloidosis, former FAP, here called TTR-FAP) is a rare, progressive autosomal dominant inherited amyloid disease ending fatal within 5 - 15 years after final diagnosis. TTR-FAP is caused by mutations of transthyretin (TTR), which forms amyloid fibrils affecting peripheral and autonomic nerves, the heart and other organs. Due to the phenotypic heterogeneity and partly not specific enough clinical symptoms, diagnosis of TTR-FAP can be complicated...
March 2018: Deutsche Medizinische Wochenschrift
Viola Andresen, Peter Layer
The irritable bowel syndrome (IBS) counts among the most prevalent chronic diseases. Clinically, the IBS is characterized by abdominal symptoms combined with irregular defecation, which are not explained by routine diagnostic tests. IBS is often triggered by enteric bacterial infections, and its pathogenesis involves disturbed enteric, gut-brain, and cerebral mechanisms. Diagnostic work-up must aim to establish a positive IBS diagnosis, and to exclude serious underlying differential diagnoses (such as neoplasia, inflammatory bowel disease, celiac disease and others)...
March 2018: Deutsche Medizinische Wochenschrift
Gesine Meyer, Klaus Badenhoop
An adrenal crisis (Addisonian crisis) is an acute life-threatening complication of adrenal insufficiency. It occurs when hydrocortisone demand is not met by supplementation in the context of an infection - often gastrointestinal, fever, trauma, acute psychological or physical stress. Symptoms of weakness, nausea, muscle/joint pain and drowsiness may develop out of robust health within few hours. If overlooked, treated too late, with insufficient dose or route of application, there exists a considerable risk of mortality...
March 2018: Deutsche Medizinische Wochenschrift
Christina Schumann, Michael Faust
BACKGROUND:  Diabetic ketoacidosis and the hyperosmolar hyperglycemic state are the most serious diabetic emergencies. Before the discovery of insulin in 1921 by Banting and Best the diagnosis of type 1 diabetes was fatal ending in diabetic ketoacidosis equivalent to a torturous death. Today, mortality from diabetic ketoacidosis is low at approximately 2 %. But each death from these two acute metabolic complications of diabetes is potentially avoidable by improved patient and healthcare professional education...
March 2018: Deutsche Medizinische Wochenschrift
Gerhard Hintze
No abstract text is available yet for this article.
March 2018: Deutsche Medizinische Wochenschrift
Masaru Hiki, Hiroshi Iwata, Yuko Kawaguchi, Kazuhisa Takamura, Makoto Hiki, Tetsuro Miyazaki, Shinichiro Fujimoto, Atsushi Amano, Hiroyuki Daida
A giant right coronary artery aneurysm (60 × 70 mm in size) was incidentally found by chest X-ray as an abnormal right atrial enlargement, and it needed surgical resection. Although the majority of giant coronary artery aneurysms present with symptoms of coronary ischemia, this case presented without any specific symptom. This study indicates that when chest X-ray shows abnormal atrial enlargement, a differential diagnosis of giant coronary artery aneurysm may need to be considered.
March 15, 2018: Cardiology
Ceren D Durmaz, Gareth Evans, Miriam J Smith, Pelin Ertop, Bengü N Akay, Timur Tuncalı
Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is a rare multisystemic autosomal dominant disorder typically presenting with cutaneous basal cell carcinomas, multiple keratocysts, and skeletal anomalies. NBCCS is caused by heterozygous mutations in the PTCH1 gene in chromosome 9q22, in the PTCH2 gene in 1p34, or the SUFU gene in 10q24.32. Here, we report on an 18-month-old boy presenting with medulloblastoma, frontal bossing, and multiple skeletal anomalies and his father who has basal cell carcinomas, palmar pits, macrocephaly, bifid ribs, calcification of falx cerebri, and a history of surgery for odontogenic keratocyst...
March 16, 2018: Cytogenetic and Genome Research
Wei Tse Li, Hao Zheng, Vincent Nguyen, Jessica Wang-Rodriguez, Weg M Ongkeko
Though bladder urothelial carcinoma is the most common form of bladder cancer, advances in its diagnosis and treatment have been modest in the past few decades. To evaluate miRNAs as putative disease markers for bladder urothelial carcinoma, this study develops a process to identify dysregulated miRNAs in cancer patients and potentially stratify patients based on the association of their microRNAome phenotype to genomic alterations. Using RNA sequencing data for 409 patients from the Cancer Genome Atlas, we examined miRNA differential expression between cancer and normal tissues and associated differentially expressed miRNAs with patient survival and clinical variables...
March 12, 2018: Neoplasia: An International Journal for Oncology Research
Fraser Magee, Michael Bailey, David V Pilcher, Johan Mårtensson, Rinaldo Bellomo
PURPOSE: To investigate the relationship between dysglycemia and hospital mortality in patients with and without a preadmission diagnosis of insulin treated diabetes mellitus (ITDM). MATERIALS AND METHODS: An observational multicentre cohort study using the ANZICS-APD database on adult patients admitted to ICU with sepsis between January 1st 2006 and December 31st 2015. Four domains of dysglycemia were investigated (highest, mean and lowest blood glucose levels and glycemic variability: the absolute difference between the highest and lowest level)...
March 3, 2018: Journal of Critical Care
Dian He, Yuan Li, Yunli Yu, Gang Cai, Fu Ouyang, Yuchan Lin, Hongjuan Lu, Lan Chu
Neurofibromatosis type 1 (NF1) is a rare autosomal dominant disorder that primarily affects the skin and the nervous system. This condition is called segmental NF1 (also called neurofibromatosis type V) when clinical features are limited to one area of the body. Segmental NF1 is generally thought to result from somatic mosaicism due to a postzygotic mutation in the NF1 gene, thus a test for NF1 gene abnormalities in peripheral blood is usually negative. Here we report a 31-year-old male presenting with epileptic seizures, who had a history of neurofibromas confirmed by biopsy, but lacked a family history of neurofibromatosis...
March 1, 2018: Clinical Neurology and Neurosurgery
Toby Wise, Matthew J Taylor, Andres Herane-Vives, Antonella Marino Gammazza, Francesco Cappello, David J Lythgoe, Steve Cr Williams, Allan H Young, Anthony J Cleare, Danilo Arnone
BACKGROUND: There is uncertainty as to whether alterations in glutamatergic function in affective disorders differ between unipolar and bipolar disorders and between depressive and euthymic states. Additionally, there are currently no available blood-based markers of central glutamatergic function to support clinical diagnosis and aid brain based investigations. METHODS: In this study, we measured levels of glutamate in the dorsal anterior cingulate cortex in-vivo using 1H-Magnetic Resonance Spectroscopy in medication free unipolar and bipolar patients (n = 29, 20 unipolar and 9 bipolar) experiencing a major depressive episode, in comparison with a group of matched healthy controls (n = 20)...
February 27, 2018: Journal of Affective Disorders
Irene Fondón, Auxiliadora Sarmiento, Ana Isabel García, María Silvestre, Catarina Eloy, António Polónia, Paulo Aguiar
Breast cancer is the second leading cause of cancer death among women. Its early diagnosis is extremely important to prevent avoidable deaths. However, malignancy assessment of tissue biopsies is complex and dependent on observer subjectivity. Moreover, hematoxylin and eosin (H&E)-stained histological images exhibit a highly variable appearance, even within the same malignancy level. In this paper, we propose a computer-aided diagnosis (CAD) tool for automated malignancy assessment of breast tissue samples based on the processing of histological images...
March 8, 2018: Computers in Biology and Medicine
Qingkai Dai, Xiaojuan Liu, Hui Yang, Siqi Guo, Yuefang Wang, Luyun Peng, Lei Ye, Lan Chen, Chunqi Lai, Qi Chen, Ge Zhang, Yongmei Jiang
Detection of aberrant antigen expression in acute lymphoblastic leukemia (ALL) by flow cytometric is proposed for the quantification of minimal residual disease (MRD). There are few studies that investigate the stability of the antigen expression in children with B lineage ALL at the end of remission induction therapy and determine its prognostic impact. Between 2010 and 2015, 691 bone marrow specimens of childhood ALL were sent at diagnosis for immunophenotypic characterization, and follow-up samples for MRD were analyzed on day 33...
March 2, 2018: Leukemia Research
Harshini Manohar, Pooja Patnaik Kuppili, Preeti Kandasamy, Venkatesh Chandrasekaran, Ravi Philip Rajkumar
BACKGROUND: Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder commonly associated with Attention Deficit Hyperactivity Disorder (ADHD), the prevalence ranging from 14-70%. The current study attempted to assess the impact of comorbid ADHD in children with ASD, in terms of challenges in diagnosis, treatment, intervention outcomes and parental stress and coping through a naturalistic design. METHODS: Fifty children aged 2-6 years with ASD were recruited, assessed and followed up for six months...
March 2, 2018: Asian Journal of Psychiatry
Narjeet S Khurmi, Yu-Hui Chang, D Eric Steidley, Andrew L Singer, Winston R Hewitt, Kunam S Reddy, Adyr A Moss, Amit K Mathur
BACKGROUND: Cardiovascular disease (CVD) is a leading cause of post-liver transplant death, and variable care patterns may affect outcomes. We aimed to describe epidemiology and outcomes of inpatient CVD care across U.S. hospitals. METHODS: Using a merged dataset from the 2002-2011 Nationwide Inpatient Sample and the American Hospital Association Annual Survey, we evaluated liver transplant patients admitted primarily with myocardial infarction (MI), stroke (CVA), congestive heart failure (CHF), dysrhythmias, cardiac arrest (CA), or malignant hypertension...
March 15, 2018: Liver Transplantation
Carol Kelly, James D Chalmers, Iain Crossingham, Nicola Relph, Lambert M Felix, David J Evans, Stephen J Milan, Sally Spencer
BACKGROUND: Bronchiectasis is a chronic respiratory disease characterised by abnormal and irreversible dilatation and distortion of the smaller airways. Bacterial colonisation of the damaged airways leads to chronic cough and sputum production, often with breathlessness and further structural damage to the airways. Long-term macrolide antibiotic therapy may suppress bacterial infection and reduce inflammation, leading to fewer exacerbations, fewer symptoms, improved lung function, and improved quality of life...
March 15, 2018: Cochrane Database of Systematic Reviews
Stephanie Elyse Ambrose, Julina Ongkasuwan, Kavita Dedhia, Gillian Ruth Diercks, Samantha Anne, Subhadra Shashidharan, Nikhila Raol
Importance: Vocal fold motion impairment (VFMI) is a known risk factor following congenital heart surgery (CHS). The impact of this diagnosis on utilization and outcomes is unknown. Objective: To evaluate the cost, postprocedure length of stay (PPLOS), and outcomes for neonates with VFMI after CHS. Design, Setting, and Participants: A cross-sectional analysis of the 2012 Kids' Inpatient Database (KID) of neonates who underwent CHS was carried out...
March 15, 2018: JAMA Otolaryngology—Head & Neck Surgery
Sophia Y Wang, Mariam S Hamid, David C Musch, Maria A Woodward
Importance: Nearly 2 million patients visit emergency departments (EDs) because of eye concerns annually in the United States. How hospitals currently assign these patients to treatment is important for designing systems that equitably allocate resources for eye care in urgent settings. Objective: To investigate factors associated with ophthalmology consultation for eye-related adult ED encounters to assess possible disparities by sex, race/ethnicity, language preference, or residential distance from the medical center...
March 15, 2018: JAMA Ophthalmology
Rafał Podgórski, David Aebisher, Monika Stompor, Dominika Podgórska, Artur Mazur
The aim of this paper is a straightforward presentation of the steroidogenesis process and the most common type of congenital adrenal hyperplasia (CAH) - 21-hydroxylase deficiency - as well as the analytical diagnostic methods that are used to recognize this disease. CAH is a family of common autosomal recessive disorders characterized by impaired adrenal cortisol biosynthesis with associated androgen excess due to a deficiency of one or more enzymes in the steroidogenesis process within the adrenal cortex...
March 15, 2018: Acta Biochimica Polonica
Chen-Yi Liao, Chi-Hsiang Chung, Pauling Chu, Kuang-Yu Wei, Tseng-Min Feng, Fu-Huang Lin, Chang-Huei Tsao, Chia-Chao Wu, Wu-Chien Chien
BACKGROUND: We evaluated the risk of osteoporosis in patients with primary biliary cirrhosis (PBC) using a nationwide population-based dataset. METHODS: In a cohort study of 986,713 individuals, we selected 2,493 PBC patients who were aged 18 years or older and had been diagnosed with PBC, based on the International Classification of Disease (ICD-9-CM) codes 571.6, during 20002010. The control cohort comprised 9,972 randomly selected, propensity matched patients (by age, gender, and index date), without PBC...
2018: PloS One
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