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Diagnosis and management

Margret Thorsteinsdottir, Unnur A Thorsteinsdottir, Finnur F Eiriksson, Hrafnhildur L Runolfsdottir, Inger M Sch Agustsdottir, Steinunn Oddsdottir, Baldur B Sigurdsson, Hordur K Hardarson, Nilesh R Kamble, Snorri Th Sigurdsson, Vidar O Edvardsson, Runolfur Palsson
Adenine phosphoribosyltransferase (APRT) deficiency is a hereditary disorder that leads to excessive urinary excretion of 2,8-dihydroxyadenine (DHA), causing nephrolithiasis and chronic kidney disease. Treatment with allopurinol or febuxostat reduces DHA production and attenuates the renal manifestations. Assessment of DHA crystalluria by urine microscopy is used for therapeutic monitoring, but lacks sensitivity. We report a high-throughput assay based on ultra-performance liquid chromatography coupled to tandem mass spectrometry (UPLC-MS/MS) for quantification of urinary DHA...
September 14, 2016: Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences
T Kuchuloria, T Akhvlediani, N Akhvlediani
This root cause analysis concerns the conflict in the Eastern Ukraine and its impact on healthcare delivery in the context of treating internally displaced persons (IDPs). Inadequate treatment of tuberculosis (TB) was selected as a major topic for intervention planning in conflict areas in Ukraine. With respect to treating TB among IDPs, rapid diagnosis and adequate nutrition and shelter are important components of care and disease control. The DOT, supported by trained primary healthcare providers equipped with rapid MDR TB diagnostic capacities, need to provide appropriate shelter and nutrition to IDPs...
September 2016: Georgian Medical News
Sathyaseelan Subramaniam, Jacqueline Bober, Jennifer Chao, Shahriar Zehtabchi
BACKGROUND: Traditionally, emergency department (ED) physicians rely on their clinical examination to differentiate between cellulitis and abscess when evaluating skin and soft tissue infections (SSTI). Management of an abscess requires incision and drainage, whereas cellulitis generally requires a course of antibiotics. Misdiagnosis often results in unnecessary invasive procedures, sedations (for incision and drainage in pediatric patients), or a return ED visit for failed antibiotic therapy...
October 21, 2016: Academic Emergency Medicine: Official Journal of the Society for Academic Emergency Medicine
Baptiste Brossard, Normand Carpentier
Contemporary research into health and mental health treats diagnosis as a central step in understanding illness management and trajectory; consequently, in the last two decades, sociology of diagnosis has attained increasing influence within medical sociology. Deeply embedded in social constructionism, the set of research divides between those who focus on the social and historical construction of diagnoses as categories, and those who see diagnosis as a process. Regarding the latter, this approach explores the constitution of the medical production, highlighting how it constitutes a starting point for entering a 'sick role', for being labelled, for naming one's problem and by extension, for framing one's illness narrative...
October 22, 2016: Sociology of Health & Illness
N Karsan, P Prabhakar, P J Goadsby
BACKGROUND: The premonitory stage of migraine attacks, when symptomatology outside of pain can manifest hours to days before the onset of the headache, is well recognised. Such symptoms have been reported in adults in a number of studies, and have value in predicting an impending headache. These symptoms have not been extensively studied in children. We aimed to characterise which, if any, of these symptoms are reported in children seen within a Specialist Headache Service. METHODS: We reviewed clinic letters from the initial consultation of children and adolescents seen within the Specialist Headache Service at Great Ormond Street Hospital between 1999 and 2015 with migraine in whom we had prospectively assessed clinical phenotype data...
December 2016: Journal of Headache and Pain
Andrea Angelini, Andreas F Mavrogenis, Eugenio Rimondi, Giuseppe Rossi, Pietro Ruggieri
This review summarizes current concepts in the diagnosis and management of the patients with eosinophilic granuloma. Given the benign biology, the clinical course, and the pediatric group of patients that this condition more commonly affects, a treatment approach that carries a lower risk of complications while ensuring a successful cure is desirable. Variable treatment options have been reported with satisfactory results and a recurrence rate of less than 20 %. In this setting, symptomatic lesions that are accessible in the spine or the extremities may be treated with intralesional methylprednisolone injection after tissue biopsy for histological diagnosis...
October 21, 2016: Journal of Orthopaedics and Traumatology: Official Journal of the Italian Society of Orthopaedics and Traumatology
Rosemarie Forstner, Isabelle Thomassin-Naggara, Teresa Margarida Cunha, Karen Kinkel, Gabriele Marselli, Rahel Kubik-Huch, John A Spencer, Andrea Rockall
: An update of the 2010 published ESUR recommendations of MRI of the sonographically indeterminate adnexal mass integrating functional techniques is provided. An algorithmic approach using sagittal T2 and a set of transaxial T1 and T2WI allows categorization of adnexal masses in one of the following three types according to its predominant signal characteristics. T1 'bright' masses due to fat or blood content can be simply and effectively determined using a combination of T1W, T2W and FST1W imaging...
October 21, 2016: European Radiology
Kelsey L Shnaekel, Michael P Wendel, Nader Z Rabie, Everett F Magann
Objective: The aim of this review was to describe the risk factors, clinical and radiographic criteria, and management of this rare complication of pregnancy. Methods: A PubMed, Web of Science, and CINAHL search was undertaken with no limitations on the number of years searched. Results: There were 60 articles identified, with 53 articles being the basis of this review. Multiple risk factors have been suggested in the literature including retroverted uterus in the first trimester, deep sacral concavity with an overlying sacral promontory, endometriosis, previous abdominal or pelvic surgery, pelvic or uterine adhesions, ovarian cysts, leiomyomas, multifetal gestation, uterine anomalies, uterine prolapse, and uterine incarceration in a prior pregnancy...
October 2016: Obstetrical & Gynecological Survey
K P Wolffenbuttel, R Hersmus, H Stoop, K Biermann, P Hoebeke, M Cools, L H J Looijenga
Recent studies on gonadal histology have improved the understanding of germ cell malignancy risk in patients with disorders of sex development (DSD), and evidence-based gonadal management strategies are gradually emerging. Especially in 46,XY DSD and 45,X/46,XY DSD, which are characterized by gonadal dysgenesis, the risk of germ cell malignancy is significantly increased. This paper summarized the progress over the past 10 years in malignancy risk assessment in patients with DSD, and its implications for optimal surgical handling of the involved gonads...
October 8, 2016: Journal of Pediatric Urology
Lucía Cea Soriano, Alex Asiimwe, Luis A García Rodríguez
OBJECTIVE: To investigate prescribing patterns of cyproterone acetate/ethinylestradiol (CPA/EE) in the UK before and after the 2013 prescribing guidance. STUDY DESIGN: We conducted a retrospective descriptive study in UK general practice. The study population included women with a first prescription (index date) for CPA/EE in The Health Improvement Network during 2011 (N=2760), 2012 (N=2923) and 2014 (N=2341). We evaluated the proportion of new CPA/EE users with i) a diagnosis of a hyperandrogenic condition, menstrual problem, consultation for contraception management, other acne treatment, in the year before the index date; ii) proportion of new CPA/EE users with concomitant use of another hormonal contraceptive (HC)...
October 18, 2016: Contraception
Tshifhiwa Magoro, George Gachara, Lufuno Mavhandu, Emmaculate Lum, Helen K Kimbi, Roland N Ndip, Pascal Bessong
BACKGROUND: HBV and HIV share similar transmission routes. Concurrent infection with the two viruses usually results in more severe and progressive liver disease, and a higher incidence of cirrhosis, liver cancer and mortality. Further, this co-infection may lead to cross-resistance between HIV and HBV drugs and increased liver injury, either due to direct hepatotoxicity or drug-related immune-reconstitution hepatitis. These challenges necessitate continuous surveillance for HBV among HIV infected individuals to guide patient management...
October 21, 2016: Virology Journal
Vicky Stergiopoulos, Agnes Gozdzik, Vachan Misir, Anna Skosireva, Aseefa Sarang, Jo Connelly, Adam Whisler, Kwame McKenzie
BACKGROUND: Little is known about the effectiveness of Housing First (HF) among ethnic minority groups, despite its growing popularity for homeless adults experiencing mental illness. This randomized controlled trial tests the effectiveness of a HF program using rent supplements and intensive case management, enhanced by anti-racism and anti-oppression practices for homeless adults with mental illness from diverse ethnic minority backgrounds. METHODS: This unblinded pragmatic field trial was carried out in community settings in Toronto, Canada...
October 21, 2016: BMC Public Health
Lamiaa Mobarak, Dalia Omran, Mohammed M Nabeel, Zeinab Zakaria
BACKGROUND AND STUDY AIM: It is well known that hepatocellular carcinoma (HCC) develops as a consequence of hepatic fibrosis progression. In this study, we aimed to evaluate the inflammatory and fibrosis markers as predictors for HCC development among patients with hepatitis C virus (HCV) related chronic liver disease to help in early diagnosis and management of HCC. METHODS: A total of 280 patients with chronic liver disease were included in this retrospective study, out of them 140 had liver cirrhosis with HCC and 140 had cirrhosis without HCC...
October 21, 2016: Journal of Medical Virology
Miriam da Silva Wanderley, Miriam Monteiro Álvares, Maria de Fátima Brito Vogt, Lizandra Moura Paravidine Sazaki
Objective To evaluate the accuracy of transvaginal ultrasonography, hysteroscopy and uterine curettage in the diagnosis of endometrial polyp, submucous myoma and endometrial hyperplasia, using as gold standard the histopathological analysis of biopsy samples obtained during hysteroscopy or uterine curettage. Methods Cross-sectional study performed at the Hospital Universitário de Brasília (HUB). Data were obtained from the charts of patients submitted to hysteroscopy or uterine curettage in the period from July 2007 to July 2012...
October 21, 2016: Revista Brasileira de Ginecologia e Obstetrícia
Ana Karen Medina Lira, Argenis Jose Mayorga Soto, Pamela Frigerio
BACKGROUND: Choledochal cyst is a congenital dilatation of the biliary tree. It may affect only the extrahepatic bile duct (type I, II and III), intrahepatic (type V) or both (type IVa). Vater first described choledochal cyst in 1723. Open excision was the standard procedure made a great impact in the treatment but since 1995 Farello et al. first reported laparoscopic choledochal cyst excision and this has been used worldwide. CASE REPORT: Female, 17 years old, past medical history two years ago a laparoscopic cholecystectomy for gallbladders...
October 5, 2016: International Journal of Surgery Case Reports
M J Tao, W Al-Jundi, G Roche-Nagle
INTRODUCTION: Popliteal artery aneurysms (PAA) are the most prevalent form of peripheral arterial aneurysms. Greater saphenous vein grafts and endoaneurysmorrhaphy remains the mainstay therapy for open repair of PAA. True aneurysmal degeneration of lower extremity infrainguinal autologous vein grafts are relatively rare and its etiology is not completely understood. CASE PRESENTATION: We present a case of a 57-year-old man with recurrent autologous venous graft aneurysmal dilatations following a surgical popliteal artery aneurysm repair...
October 8, 2016: International Journal of Surgery Case Reports
Mohammad Yaser Kiarudi, Kaveh Fadakar, Ebrahim Mousavi
PURPOSE: To describe a case of bilateral choroidal neovascularization in a patient with beta-thalassemia major and an interventional therapeutic attempt. METHOD: Retrospective case report. RESULT: A known case of beta-thalassemia major presented with gradual vision loss. Fundoscopy revealed bilateral macular edema accompanied by intraretinal hemorrhages. Optical coherence tomography and fluorescein angiography were compatible with the diagnosis of choroidal neovascularization...
October 20, 2016: Retinal Cases & Brief Reports
Nihar Ranjan Dash, Ragini Kilambi, Anand Narayan Singh, Sujoy Pal, Mohammed Adil Asfan
Pseudoaneurysmogastric fistula is a rare consequence of pseudoaneurysms occurring in the vicinity of stomach. They are the result of pseudoaneurysms eroding into the stomach, and represent a life threatening emergency. Urgent surgical intervention is often necessary to salvage the patient. Data regarding the presentation and management of this condition is sparse. Herein, we present our experience with four cases of pseudoaneurysmogastric fistula, their clinical context, presentation, management and outcomes...
October 21, 2016: Journal of Investigative Surgery: the Official Journal of the Academy of Surgical Research
Prativa Pandey, Benu Lohani, Holly Murphy
Pandey, Prativa, Benu Lohani, and Holly Murphy. Pulmonary embolism masquerading as high altitude pulmonary edema at high altitude. High Alt Med Biol. 16:000-000, 2016.-Pulmonary embolism (PE) at high altitude is a rare entity that can masquerade as or occur in conjunction with high altitude pulmonary edema (HAPE) and can complicate the diagnosis and management. When HAPE cases do not improve rapidly with descent, other diagnoses, including PE, ought to be considered. From 2013 to 2015, we identified eight cases of PE among 303 patients with initial diagnosis of HAPE...
October 21, 2016: High Altitude Medicine & Biology
Stacy Loeb, Yasin Folkvaljon, Caitlin Curnyn, David Robinson, Ola Bratt, Pär Stattin
Importance: Active surveillance is an important option to reduce prostate cancer overtreatment, but it remains underutilized in many countries. Models from the United States show that greater use of active surveillance is important for prostate cancer screening to be cost-effective. Objectives: To perform an up-to-date, nationwide, population-based study on use of active surveillance for localized prostate cancer in Sweden. Design, Setting, and Participants: Cross-sectional study in the National Prostate Cancer Register (NPCR) of Sweden from 2009 through 2014...
October 20, 2016: JAMA Oncology
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