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https://www.readbyqxmd.com/read/29778086/pelvic-floor-physical-therapy-and-women-s-health-promotion
#1
REVIEW
Samantha Lawson, Ashley Sacks
Pelvic floor dysfunction is defined as abnormal function of the pelvic floor and includes conditions that can have significant adverse impacts on a woman's quality of life, including urinary incontinence (stress, urge, and mixed), fecal incontinence, pelvic organ prolapse, sexual dysfunction, diastasis recti abdominis, pelvic girdle pain, and chronic pain syndromes. Women's health care providers can screen for, identify, and treat pelvic floor dysfunction. This article examines the case of a woman with multiple pelvic-floor-related problems and presents the evidence for the use of pelvic floor physical therapy (PFPT) for pregnancy-related pelvic floor dysfunction...
May 19, 2018: Journal of Midwifery & Women's Health
https://www.readbyqxmd.com/read/29778030/retrospective-genotype-phenotype-analysis-in-a-305-patient-cohort-referred-for-testing-of-a-targeted-epilepsy-panel
#2
Andrew N Hesse, Jennifer Bevilacqua, Kritika Shankar, Honey V Reddi
PURPOSE: Epilepsy is a diverse neurological condition with extreme genetic and phenotypic heterogeneity. The introduction of next-generation sequencing into the clinical laboratory has made it possible to investigate hundreds of associated genes simultaneously for a patient, even in the absence of a clearly defined syndrome. This has resulted in the detection of rare and novel mutations at a rate well beyond our ability to characterize their effects. This retrospective study reviews genotype data in the context of available phenotypic information on 305 patients spanning the epileptic spectrum to identify established and novel patterns of correlation...
May 16, 2018: Epilepsy Research
https://www.readbyqxmd.com/read/29778011/bisphenol-a-exposure-through-receipt-handling-and-its-association-with-insulin-resistance-among-female-cashiers
#3
Inae Lee, Sunmi Kim, Ki-Tae Kim, Sungkyoon Kim, Suhyun Park, Hyojin Lee, Yunsun Jeong, Jae-Eun Lim, Hyo-Bang Moon, Kyungho Choi
Bisphenol A (BPA) is one of the most widely used chemicals in various consumer products. In thermal papers such as receipts and tickets, BPA is used as a heat-activated developer. Cashiers are therefore suspected to be a vulnerable group of exposure to BPA, but neither contribution of receipt handling to the total body burden of BPA among cashiers, nor related health effects are well characterized. Female cashiers (n = 54) were recruited from seven retail shops of a major supermarket chain in Korea, and urinary levels of BPA and metabolic syndrome (MetS) related biomarkers were measured...
May 16, 2018: Environment International
https://www.readbyqxmd.com/read/29777953/ultrasound-guided-application-of-percutaneous-electrolysis-as-an-adjunct-to-exercise-and-manual-therapy-for-subacromial-pain-syndrome-a-randomized-clinical-trial
#4
Lorena de-Miguel-Valtierra, Jaime Salom-Moreno, César Fernández-de-Las-Peñas, Joshua A Cleland, José L Arias-Buría
This randomized clinical trial compared the effects of adding US-guided percutaneous electrolysis into a program consisting of manual therapy and exercise on pain, related-disability, function and pressure sensitivity in subacromial pain syndrome. Fifty patients with subacromial pain syndrome were randomized into manual therapy and exercise or percutaneous electrolysis group. All patients received the same manual therapy and exercise program, one session per week for 5 consecutive weeks. Patients assigned to the electrolysis group also received the application of percutaneous electrolysis at each session...
May 16, 2018: Journal of Pain: Official Journal of the American Pain Society
https://www.readbyqxmd.com/read/29777883/atypical-presentation-of-giant-aneurysm-in-a-pediatric-patient-with-duane-syndrome
#5
Chao-Hung Kuo, Lynn B McGrath, Joseph A Carnevale, Neena I Marupudi, Jeffery G Ojemann, Richard G Ellenbogen, Anthony C Wang
BACKGROUND: Duane syndrome is a congenital eye movement disorder characterized by congenital malformation of the abducens nucleus. Thrombogenic conditions during development may lead to vascular anomalies in Duane syndrome, however, the presence of a giant aneurysm in this patient population is a rarely documented phenomenon. CASE DESCRIPTION: We reported a case of a large cerebral aneurysm in a pediatric patient with Duane syndrome, and performed a review of the literatures to identify other potential cases and associations...
May 16, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29777852/is-may-thurner-syndrome-combined-with-left-iliac-arteriovenous-fistularare-or-neglected-cases-report-and-literature-review
#6
Che Haijie, Li Lubin, Song Fubo, Yang Mu
May-Thurner Syndrome (MTS) is a condition in which the left common iliac vein is compressed by the right common iliac artery, which may cause swelling, pain or deep venous thrombosis of the left lower extremity1 .Post-thrombotic syndrome, non-thrombotic chronic venous insufficiency and recurrence after venous thrombosis are also possible complications. Although MTS combined with left iliac arteriovenous fistula (AVF) is rarely reported, we treated three such cases in the past year.
May 16, 2018: Annals of Vascular Surgery
https://www.readbyqxmd.com/read/29777844/angioplasty-for-budd-chiari-syndrome-in-a-child-with-26-year-follow-up
#7
Xixiang Gao, Zhu Tong, Lianrui Guo, Jianxin Li, Jian Zhang, Yongquan Gu
Budd-Chiari syndrome (BCS) is a rare but life-threatening disease. If not treated promptly, it is almost always lethal of progressive liver failure, severe nutritional depletion, and renal failure at the late stage. We report the successful treatment of a 5-year-old boy with BCS due to a stenosis of the IVC with a 26-year follow-up. We performed percutaneous transluminal angioplasty (PTA), which resulted in a great improvement of BCS, and the disappearance of ascites. Restenosis occurred at 25 years after the initial angioplasty, for which balloon angioplasty was repeatedly performed...
May 16, 2018: Annals of Vascular Surgery
https://www.readbyqxmd.com/read/29777780/pierre-robin-sequence-a-comprehensive-narrative-review-of-the-literature-over-time
#8
Amerigo Giudice, Selene Barone, Kahina Belhous, Anne Morice, Véronique Soupre, Francesco Bennardo, Nathalie Boddaert, Marie-Paule Vazquez, Véronique Abadie, Arnaud Picard
Pierre Robin syndrome (PRS) is characterized of a triad of clinical signs: micrognathia, glossoptosis and obstruction of the upper airways frequently associated with palatal cleft. It is a heterogenic pathological entity and it can be found as isolated disease (nsPRS) or in association with other syndromes (sPRS), with more pronounced symptoms and systemic involvement. This review aims to summarize the principal features of PRS, analysing the different aspects of the disease. Epidemiological data highlight incidence, severity and mortality of PRS; pathophysiological mechanism reports the etiology and pathogenesis of the disease distinguishing between isolated and syndromic form...
May 16, 2018: Journal of Stomatology, Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/29777677/usherin-defects-lead-to-early-onset-retinal-dysfunction-in-zebrafish
#9
Margo Dona, Ralph Slijkerman, Kimberly Lerner, Sanne Broekman, Jeremy Wegner, Taylor Howat, Theo Peters, Lisette Hetterschijt, Nando Boon, Erik de Vrieze, Nasrin Sorusch, Uwe Wolfrum, Hannie Kremer, Stephan Neuhauss, Jingjing Zang, Maarten Kamermans, Monte Westerfield, Jennifer Phillips, Erwin van Wijk
Mutations in USH2A are the most frequent cause of Usher syndrome and autosomal recessive nonsyndromic retinitis pigmentosa. To unravel the pathogenic mechanisms underlying USH2A-associated retinal degeneration and to evaluate future therapeutic strategies that could potentially halt the progression of this devastating disorder, an animal model is needed. The available Ush2a knock-out mouse model does not mimic the human phenotype, because it presents with only a mild and late-onset retinal degeneration. Using CRISPR/Cas9-technology, we introduced protein-truncating germline lesions into the zebrafish ush2a gene (ush2armc1 : c...
May 16, 2018: Experimental Eye Research
https://www.readbyqxmd.com/read/29777631/effect-of-deferasirox-erythropoietin-vs-erythropoietin-on-erythroid-response-in-low-int-1-risk-mds-patients-results-of-the-phase-ii-kallisto-trial
#10
Norbert Gattermann, Rosa Coll, Lutz Jacobasch, Allameddine Allameddine, Amin Azmon, Laurie DeBonnett, Andreas Bruederle, Jie Jin
OBJECTIVES: Erythropoiesis-stimulating agents (ESAs) remain first-choice to treat symptomatic anemia and delay transfusion dependence in most patients with lower-risk myelodysplastic syndromes (MDS) without del(5q). Deferasirox increased erythroid responses in some lower-risk MDS patients in clinical trials, and adding low-dose deferasirox to ESA treatment may further improve erythroid response. METHODS: KALLISTO (NCT01868477) was a randomized, open-label, multicenter, phase II study...
May 19, 2018: European Journal of Haematology
https://www.readbyqxmd.com/read/29777618/guideline-of-guidelines-bladder-pain-syndrome
#11
REVIEW
Sachin Malde, Stefano Palmisani, Adnan Al-Kaisy, Arun Sahai
Bladder pain syndrome (BPS) is a severely debilitating, chronic disorder of unknown aetiology that has a significant negative impact on quality of life. A community-based study of American women has reported a high prevalence of 2.7% - 6.5% [1]. Despite this, there is still a lack of consensus worldwide on how to define the condition, the nomenclature to use, and how to optimally treat patients. This is reflected in the considerable variation in management worldwide, and the divergent recommendations in national and international guidelines...
May 19, 2018: BJU International
https://www.readbyqxmd.com/read/29777603/-communication-of-the-diagnosis-of-down-syndrome-mother-s-stories
#12
Teresa Vargas Aldecoa, José Luis Martin Conty, Rosa María Conty Serrano, Cristina Fernández Pérez
The article studies the way in which health professionals communicate the diagnosis of Down syndrome to parents. For that the personal stories of the mothers collected in the answers given by them to the open questions of a questionnaire on ″communication of the diagnosis″ are analyzed. The results show the mothers' dissatisfaction with the information received during the prenatal and postnatal diagnosis of Down síndrome.
May 2018: Cuadernos de Bioética: Revista Oficial de la Asociación Española de Bioética y Ética Médica
https://www.readbyqxmd.com/read/29777584/neuropsychiatric-expression-and-catatonia-in-22q11-2-deletion-syndrome-an-overview-and-case-series
#13
Nancy J Butcher, Erik Boot, Anthony E Lang, Danielle Andrade, Jacob Vorstman, Donna McDonald-McGinn, Anne S Bassett
Individuals with 22q11.2 deletion syndrome (22q11.2DS) are at elevated risk of developing treatable psychiatric and neurological disorders, including anxiety disorders, schizophrenia, seizures, and movement disorders, often beginning in adolescence or early to mid-adulthood. Here, we provide an overview of neuropsychiatric features associated with 22q11.2DS in adulthood. Results of a new case series of 13 individuals with 22q11.2DS and catatonic features together with 5 previously reported cases support a potential association of this serious psychomotor phenotype with the 22q11...
May 19, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29777577/autologous-bone-marrow-mesenchymal-stem-cells-improve-the-quality-and-stability-of-vascularized-flap-surgery-of-irradiated-skin-in-pigs
#14
Christine Linard, Michel Brachet, Carine Strup-Perrot, Bruno L'homme, Elodie Busson, Claire Squiban, Valerie Holler, Michel Bonneau, Jean-Jacques Lataillade, Eric Bey, Marc Benderitter
Cutaneous radiation syndrome has severe long-term health consequences. Because it causes an unpredictable course of inflammatory waves, conventional surgical treatment is ineffective and often leads to a fibronecrotic process. Data about the long-term stability of healed wounds, with neither inflammation nor resumption of fibrosis, are lacking. In this study, we investigated the effect of injections of local autologous bone marrow-derived mesenchymal stromal cells (BM-MSCs), combined with plastic surgery for skin necrosis, in a large-animal model...
May 18, 2018: Stem Cells Translational Medicine
https://www.readbyqxmd.com/read/29777554/development-and-feasibility-testing-of-an-avatar-based-education-application-for-patients-with-acute-coronary-syndrome
#15
Jintana Tongpeth, Hui Yun Du, Robyn A Clark
AIMS: To develop and evaluate an interactive, avatar-based education application, for improving patients' knowledge of, and response to, ACS symptoms. BACKGROUND: A patient's ability to recognise and respond to the symptoms of acute coronary syndrome (ACS) is imperative for seeking timely medical intervention. Innovative patient education interventions are needed to support patient education and patient self-care. METHODS: Participatory action research methods were used to engage consumers with cardiac and IT experts to develop an avatar-based education application...
May 18, 2018: Journal of Clinical Nursing
https://www.readbyqxmd.com/read/29777510/clopidogrel-pharmacogenetics-in-iranian-patients-undergoing-percutaneous-coronary-intervention
#16
Nejat Mahdieh, Ahmad Rabbani, Ata Firouzi, Ali Zahedmehr, Maryam Hoseinimoghaddam, Sedigheh Saeidi, Hamidreza Sanati, Hosseinali Basiri, Feridoun Noohi, Bahareh Rabbani, Majid Maleki
Clopidogrel is used in patients with coronary syndromes and at risk of thrombotic events or receiving percutaneous coronary intervention (PCI) for reducing heart attack and stroke. Here we present genotype and phenotype study of Iranian patients undergoing PCI treated with clopidogrel during a 6-month period of follow-up; common variants of CYP2C19, CYP3A5, CYP3A4, and ABCB1 genes were determined as well as the patients' cardiovascular outcomes to find out the effect of these variants individually and in combination...
May 18, 2018: Cardiovascular Toxicology
https://www.readbyqxmd.com/read/29777478/the-relationship-with-restless-legs-syndrome-fibromyalgia-and-depressive-symptoms-in-migraine-patients
#17
Zehra Akdag Uzun, Semiha Kurt, Hatice Karaer Unaldi
OBJECTIVE: In this study, we aimed to investigate restless legs syndrome, depression, frequency of fibromyalgia and possible causes of its frequencies, and the relationships among these synergies and migraine's prodrome, aura, pain, and postdrome symptoms in patients with migraine. SUBJECTS AND METHODS: The study group included 200 patients previously or recently diagnosed with definite migraine and according to International Headache Society criteria and 200 healthy volunteers...
May 18, 2018: Neurological Sciences
https://www.readbyqxmd.com/read/29777474/not-quite-type-1-or-type-2-what-now-review-of-monogenic-mitochondrial-and-syndromic-diabetes
#18
REVIEW
Roseanne O Yeung, Fady Hannah-Shmouni, Karen Niederhoffer, Mark A Walker
Diabetes mellitus is a heterogeneous group of conditions defined by resultant chronic hyperglycemia. Given the increasing prevalence of diabetes mellitus and the increasing understanding of genetic etiologies, we present a broad review of rare genetic forms of diabetes that have differing diagnostic and/or treatment implications from type 1 and type 2 diabetes. Advances in understanding the genotype-phenotype associations in these rare forms of diabetes offer clinically available examples of evolving precision medicine where defining the correct genetic etiology can radically alter treatment approaches...
May 18, 2018: Reviews in Endocrine & Metabolic Disorders
https://www.readbyqxmd.com/read/29777468/van-wyk-grumbach-syndrome-a-rare-consequence-of-hypothyroidism
#19
Pavan Reddy, Kritika Tiwari, Abhishek Kulkarni, Ketan Parikh, Raju Khubchandani
Long standing hypothyroidism presenting as an ovarian mass has been well described in literature as the Van Wyk Grumbach syndrome (hypothyroidism, isosexual precocious puberty and ovarian mass). Here, authors report this entity in a 11 y 7 mo old girl child who was referred to a surgeon in view of intestinal obstruction along with a multiloculated ovarian cyst. On evaluation, she was found to have raised serum creatinine, short stature, delayed bone age and pituitary enlargement. She was diagnosed with autoimmune thyroiditis and was started on replacement therapy with thyroxine, after which the ovarian cysts regressed...
May 19, 2018: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/29777447/integra-%C3%A2-dermal-regeneration-template-and-split-thickness-skin-grafting-a-therapy-approach-to-correct-aplasia-cutis-congenita-and-epidermolysis-bullosa-in-carmi-syndrome
#20
Julian Trah, Christina Has, Ingrid Hausser, Heinz Kutzner, Konrad Reinshagen, Ingo Königs
The association of junctional epidermolysis bullosa with pyloric atresia (JEB-PA) and aplasia cutis congenita (ACC) was described by El Shafie et al. (J Pediatr Surg 14(4):446-449, 1979) and Carmi et al. (Am J Med Genet 11:319-328, 1982). Most patients die in the first weeks of life, and no curative treatment options are available so far. We describe a patient with JEB-PA and ACC (OMIM # 226730) who was treated for extensive areas of ACC by Integra® -Dermal Regeneration Template and split-thickness skin grafting (STSG)...
May 18, 2018: Dermatology and Therapy
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