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https://www.readbyqxmd.com/read/28822792/imaging-assessment-of-fibrodysplasia-ossificans-progressiva-qualitative-quantitative-and-questionable
#1
Mona Al Mukaddam, Chamith S Rajapakse, Robert J Pignolo, Frederick S Kaplan, Stacy E Smith
Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare autosomal dominant genetic disorder of heterotopic ossification (HO) characterized by skeletal anomalies and episodic soft tissue swelling (flare-ups) that can transform into heterotopic bone. The progressive development of heterotopic bone and progressive arthropathy leads to significant limitation of mobility. This paper will review various imaging modalities used in evaluating episodic soft tissue swelling (flare-ups), heterotopic bone and skeletal anomalies...
August 16, 2017: Bone
https://www.readbyqxmd.com/read/28822558/wilms-tumor-screening-in-diffuse-capillary-malformation-with-overgrowth-and-macrocephaly-capillary-malformation-a-retrospective-study
#2
Caitlin M Peterman, Sophie Vadeboncoeur, John B Mulliken, Steven J Fishman, Marilyn G Liang
BACKGROUND: CLOVES (congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal anomalies) syndrome is associated with regional bony and/or soft tissue overgrowth, capillary malformation, and an increased risk for Wilms tumor. OBJECTIVE: To evaluate the frequency of Wilms tumor in patients with 2 similar conditions: diffuse capillary malformation with overgrowth (DCMO) and macrocephaly-capillary malformation (M-CM). METHODS: Culling our Vascular Anomalies Center database, we retrospectively reviewed patients in whom DCMO and M-CM had been diagnosed and who were evaluated between 1998 and 2016 for possible development of Wilms tumor...
August 16, 2017: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/28821796/cathepsin-k-knockout-protects-against-cardiac-dysfunction-in-diabetic-mice
#3
Rui Guo, Yinan Hua, Olivia Rogers, Travis E Brown, Jun Ren, Sreejayan Nair
Diabetes is a major risk factor for cardiovascular disease and the lysosomal cysteine protease cathepsin K plays a critical role in cardiac pathophysiology. To expand upon our previous findings, we tested the hypothesis that, knockout of cathepsin K protects against diabetes-associated cardiac anomalies. Wild-type and cathepsin K knockout mice were rendered diabetic by streptozotocin (STZ) injections. Body weight, organ mass, fasting blood glucose, energy expenditure, cardiac geometry and function, cardiac histomorphology, glutathione levels and protein levels of cathepsin K and those associated with Ca(2+) handling, calcineurin/NFAT signaling, insulin signaling, cardiac apoptosis and fibrosis were determined...
August 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28821499/primary-ventricular-tachycardia-in-paediatric-population-in-a-tertiary-centre
#4
Shuenn-Nan Chiu, Wei-Lun Wu, Chun-Wei Lu, Wei-Chieh Tseng, Kun-Lang Wu, Jou-Kou Wang, Mei-Hwan Wu
OBJECTIVE: To delineate the outcome of ventricular tachycardia (VT) in the paediatric population. METHODS: Patients who developed sustained VT between the ages of 0 and 18 years in a referral centre from 1991 to 2015 were enrolled. RESULTS: A total of 116 patients (67 male/49 female) had documented VT, and 53 (46%) had associated heart disease, namely cardiomyopathy in 20 (17%), structural heart disease in 19 (16%) and channelopathy in 14 (12%), and some of them presented with two types of associated heart disease...
August 18, 2017: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/28821388/a-case-control-analysis-investigating-risk-factors-and-outcomes-for-nephrocalcinosis-and-renal-calculi-in-neonates
#5
Melissa Huynh, Roderick Clark, Jenny Li, Guido Filler, Sumit Dave
INTRODUCTION: Studies on outcomes and risk factors for neonatal nephrocalcinosis (NC) and renal calculi (RC) are limited, and often do not include controls for comparison. We conducted a case-control analysis to identify risk factors associated with NC and/or RC in neonates and studied the natural course of these anomalies. STUDY DESIGN: Infants diagnosed with NC/RC on ultrasound within the first year of life and corresponding gestational age- and gender-matched controls were identified from the neonatal intensive care unit database at our institution over a 10-year period...
July 27, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28821323/post-mortem-magnetic-resonance-pmmr-imaging-of-the-brain-in-fetuses-and-children-with-histopathological-correlation
#6
REVIEW
S C Shelmerdine, J C Hutchinson, N J Sebire, T S Jacques, O J Arthurs
Post-mortem magnetic resonance (PMMR) imaging is rapidly emerging as an alternative, "less invasive", and more widely accepted investigative approach for perinatal deaths in the UK. PMMR has a high diagnostic accuracy for congenital and acquired fetal neuropathological anomalies compared to conventional autopsy, and is particularly useful when autopsy is non-diagnostic. The main objectives of this review are to describe and illustrate the range of common normal and abnormal central nervous system (CNS) findings encountered during PMMR investigation...
August 15, 2017: Clinical Radiology
https://www.readbyqxmd.com/read/28820902/from-hospitalization-records-to-surveillance-the-use-of-local-patient-profiles-to-characterize-cholera-in-vellore-india
#7
Melissa S Cruz, Tania M AlarconFalconi, Meghan A Hartwick, Aishwarya Venkat, Hanna Y Ehrlich, Shalini Anandan, Honorine D Ward, Balaji Veeraraghavan, Elena N Naumova
Despite availability of high quality medical records, health care systems often do not have the resources or tools to utilize these data efficiently. Yet, hospital-based, laboratory-confirmed records may pave the way for building reliable surveillance systems capable of monitoring temporal trends of emerging infections. In this communication, we present a new tool to compress and visualize medical records with a local population profile (LPP) approach, which transforms information into statistically comparable patterns...
2017: PloS One
https://www.readbyqxmd.com/read/28820161/ocular-morbidity-patterns-among-children-in-schools-for-the-blind-in-chennai
#8
M Vs Prakash, S Sivakumar, Ashutosh Dayal, A Chitra, Sudharshini Subramaniam
PURPOSE: To identify the morbidity patterns causing blindness in children attending schools for the blind in Chennai and comparing our data with similar studies done previously. METHODS: A cross-sectional prevalence study was carried out in two schools for the blind in Chennai. Blind schools were visited by a team of ophthalmologists and optometrists. Students with best-corrected visual acuity (BCVA) worse than 3/60 in the better eye were included and relevant history was noted...
August 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/28820061/renin-angiotensin-system-and-cytokines-in-chronic-kidney-disease-clinical-and-experimental-evidence
#9
Ariadna Andrade Saldanha Silva, Beranardo Bahia Finotti, Amanda Oliveira Lauar, Thiago Ruiz Rodrigues Prestes, Ana Cristina Simões E Silva
Chronic kidney disease (CKD) has become a major public health problem in Brazil and worldwide. There are many causes of CKD, being the congenital anomalies of the kidney and urinary tract and the glomerular diseases very common in pediatric patients, while diabetic nephropathy, CKD due to chronic arterial hypertension and glomerular diseases are predominant in adult patients. Many endogenous mediators have been related to the pathophysiology of CKD, being relevant the effects of the renin-angiotensin system (RAS) and the immune-inflammatory mediators including cytokines...
August 18, 2017: Protein and Peptide Letters
https://www.readbyqxmd.com/read/28819947/secondary-dysmenorrhea-due-to-a-rudimentary-non-communicating-functional-uterine-horn
#10
Ewa Woźniakowska, Anna Stępniak, Piotr Czuczwar, Paweł Milart, Tomasz Paszkowski
Unicornuate uterus with a rudimentary horn is a rare congenital Müllerian anomaly, which may lead to many obstetrical and gynaecological complications. This pathology occurs in approximately 1/100 000 women. A rudimentary horn forms due to insufficient development of the Müllerian duct. The diagnosis of this anomaly is usually delayed, as it remains asymptomatic until adolescence and its main symptom is dysmenorrhea.
2017: Ginekologia Polska
https://www.readbyqxmd.com/read/28819938/see-and-treat-strategy-by-leep-conization-in-patients-with-abnormal-cervical-cytology
#11
Fuat Demirkiran, Ilker Kahramanoglu, Hasan Turan, Nevin Yilmaz, Aslihan Yurtkal, Elif Meseci, Tugan Bese, Sennur Ilvan, Macit Arvas
OBJECTIVES: To determine the overtreatment and re-LEEP rates of see and treat strategy (S & T) in women who underwent S & T by LEEP and to identify the risk factors for overtreatment and surgical margin and/or endocervical curettage positivity. MATERIAL AND METHODS: A total of 800 patients who underwent S & T in Istanbul University Cerrahpasa Medical Faculty between June 2010 and June 2016 were retrospectively analyzed. RESULTS: Overtreatment rate was found to be 46...
2017: Ginekologia Polska
https://www.readbyqxmd.com/read/28819577/the-role-of-laparoscopy-in-the-management-of-a-diagnostic-dilemma-jejunal-ectopic-pancreas-developing-into-jejunojejunal-intussusception
#12
Alessio Giordano, Giovanni Alemanno, Carlo Bergamini, Paolo Prosperi, Alessandro Bruscino, Andrea Valeri
Ectopic pancreas (EP) is a rare congenital anomaly defined as the presence of pancreatic tissue in topographic anomaly. It is usually silent but it may become clinically evident when complicated by acute conditions. The development of laparoscopic surgery has changed the way to manage such conditions, especially in the setting of emergency surgery, thanks to its diagnostic and therapeutic role with excellent results. We decided to perform an emergency diagnostic exploratory laparoscopy in a 29-year-old man with an acute abdomen and nonspecific radiological images for intestinal occlusion...
2017: Case Reports in Surgery
https://www.readbyqxmd.com/read/28819530/assessment-of-sphenoid-sinus-related-anatomic-variations-with-computed-tomography
#13
Figen Tunalı Turkdogan, Kenan Ahmet Turkdogan, Murat Dogan, Mehmet Haydar Atalar
INTRODUCTION: Frequent and broad application of endoscopic sinus surgery (ESS) in parallel with experience makes it imperative to know the anatomy and the existing pathology very well before surgery. This study examines the association between anomalies in the sphenoid sinus area in paranasal sinuses computed tomography (PNS-CT) and pathological findings and determines variations of sphenoid sinus. METHODS: A total of 200 cases (100 women, 100 men) who had PNS-CT in the emergency and radiology polyclinics within the period of one year were included in this study...
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/28819271/a-magnetoelectric-flux-gate-new-approach-for-weak-dc-magnetic-field-detection
#14
Zhaoqiang Chu, Huaduo Shi, Mohammad Javad PourhosseiniAsl, Jingen Wu, Weiliang Shi, Xiangyu Gao, Xiaoting Yuan, Shuxiang Dong
The magnetic flux gate sensors based on Faraday's Law of Induction are widely used for DC or extremely low frequency magnetic field detection. Recently, as the fast development of multiferroics and magnetoelectric (ME) composite materials, a new technology based on ME coupling effect is emerging for potential devices application. Here, we report a magnetoelectric flux gate sensor (MEFGS) for weak DC magnetic field detection for the first time, which works on a similar magnetic flux gate principle, but based on ME coupling effect...
August 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28818301/in-vitro-fertilization-and-adverse-obstetric-and-perinatal-outcomes
#15
Chantae S Sullivan-Pyke, Suneeta Senapati, Monica A Mainigi, Kurt T Barnhart
Most IVF-conceived children are healthy, but IVF has also been associated with adverse obstetric and perinatal outcomes as well as congenital anomalies. There is also literature suggesting an association between IVF and neurodevelopmental disorders as well as potentially long-term metabolic outcomes. The main driver for adverse outcomes is the higher risk of multiple gestations in IVF, but as the field moves toward single embryo transfer, the rate of multiple gestations is decreasing. Studies have shown that singleton IVF pregnancies still have a higher incidence of adverse outcomes compared to unassisted singleton pregnancies...
August 14, 2017: Seminars in Perinatology
https://www.readbyqxmd.com/read/28818086/mediterranean-diet-folic-acid-and-neural-tube-defects
#16
REVIEW
Maximilian Fischer, Mauro Stronati, Marcello Lanari
The Mediterranean diet has been for a very long time the basis of food habits all over the countries of the Mediterranean basin, originally founded on rural models and low consumption of meat products and high-fat/high-processed foods. However, in the modern era, the traditional Mediterranean diet pattern is now progressively eroding due to the widespread dissemination of the Western-type economy, life-style, technology-driven culture, as well as the globalisation of food production, availability and consumption, with consequent homogenisation of food culture and behaviours...
August 17, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/28817461/risk-factors-and-outcomes-of-thalidomide-induced-peripheral-neuropathy-in-a-pediatric-inflammatory-bowel-disease-cohort
#17
Matteo Bramuzzo, Gabriele Stocco, Marcella Montico, Serena Arrigo, Angela Calvi, Paola Lanteri, Stefano Costa, Salvatore Pellegrino, Giuseppe Magazzù, Jacopo Barp, Silvia Ghione, Paolo Lionetti, Giovanna Zuin, Massimo Fontana, Teresa Di Chio, Giuseppe Maggiore, Marzia Lazzerini, Marianna Lucafò, Chiara Udina, Maria Chiara Pellegrin, Andrea Chicco, Marco Carrozzi, Giuliana Decorti, Alessandro Ventura, Stefano Martelossi
BACKGROUND: Thalidomide is an effective therapy in children with inflammatory bowel disease refractory to standard treatments, but thalidomide-induced peripheral neuropathy (TiPN) limits its long-term use. We aimed to investigate the risk factors and the outcome of TiPN in children with inflammatory bowel disease. METHODS: Within a retrospective multicenter cohort study, we evaluated prevalence and evolution of TiPN. Clinical data and candidate genetic profiles of patients with and without TiPN were compared with detect predisposing factors...
August 16, 2017: Inflammatory Bowel Diseases
https://www.readbyqxmd.com/read/28817389/congenital-anomalies-of-the-optic-disc-insights-from-optical-coherence-tomography-imaging
#18
Karen W Jeng-Miller, Dean M Cestari, Eric D Gaier
PURPOSE OF REVIEW: Congenital anomalies of the optic nerve are rare but significant causes of visual dysfunction in children and adults. Accurate diagnosis is dependent on a thorough funduscopic examination, but can be enhanced by imaging information garnered from optical coherence tomography (OCT). We review common congenital optic nerve anomalies, including optic disc pit, optic nerve coloboma, morning glory disc anomaly, and hypoplasia of the optic nerve, review their systemic associations, and discuss insights from OCT imaging...
August 16, 2017: Current Opinion in Ophthalmology
https://www.readbyqxmd.com/read/28817202/perinatal-mortality-in-japanese-women-diagnosed-with-gestational-diabetes-mellitus-and-diabetes-mellitus
#19
Mamoru Morikawa, Takashi Sugiyama, Norimasa Sagawa, Yuji Hiramatsu, Hiroshi Ishikawa, Hiromi Hamada, Takashi Kameda, Emiko Hara, Shigeru Toda, Hisanori Minakami
AIMS: The objective of this study was to determine how many pregnant Japanese women with diabetes mellitus (DM)/gestational diabetes mellitus (GDM) experience perinatal mortality in the presence of fetal anomalies. METHODS: Our investigation included data from 205 secondary/tertiary obstetric facilities located widely in Japan. The Japan Ministry of Health, Labour and Welfare Vital Statistics of Japan was used for comparison. RESULTS: Of 237 941 women giving birth at 205 hospitals, 1796 (0...
August 17, 2017: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/28816964/the-rare-axenfeld-rieger-syndrome-with-systemic-anomalies-a-case-report-and-brief-review-of-literature
#20
Wei Song, Xiaodan Hu
RATIONALE: Axenfeld-Rieger syndrome (ARS) is a rare autosomal dominant disorder with ocular anterior segment dysgenesis and systemic anomalies. PATIENT CONCERNS: A 28-year-old Chinese Han female was referred to Beijing Tongren Eye Center for progressive decrease of the visual acuity on her right eye in the past month. DIAGNOSES: The patient was diagnosed as ARS with retinal detachment based on series of ophthalmic examinations performed. INTERVENTIONS: A pars plana vitrectomy was performed to manage the retinal detachment...
August 2017: Medicine (Baltimore)
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