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https://www.readbyqxmd.com/read/28088379/outcome-following-use-of-the-achillon-jig-for-the-repair-of-acutely-ruptured-achilles-tendons
#1
Howard Davies, Yuvraj Agrawal, Chris Blundell, Mark B Davies
We report a series of 143 patients who underwent limited open Achilles tendon repair using the Achillon device at a mean follow-up of 25 months. All patients attending our institution with a diagnosis of acute Achilles tendon rupture were considered for operative repair using the Achillon jig unless they declined surgery or met the exclusion criteria. Following surgery patients were contacted and asked to complete an Achilles Tendon Rupture Score (ATRS). The clinical records were reviewed for evidence of complications, demographic information and evidence of re-rupture...
January 9, 2017: Injury
https://www.readbyqxmd.com/read/28087922/urogenital-tuberculosis
#2
André A Figueiredo, Antônio M Lucon, Miguel Srougi
Urogenital tuberculosis is the second most frequent form of extrapulmonary tuberculosis. Starting with a pulmonary focus, 2 to 20% of patients develop urogenital tuberculosis through hematogenous spread to the kidneys, prostate, and epididymis; through the descending collecting system to the ureters, bladder, and urethra; and through the ejaculatory ducts to the genital organs. Urogenital tuberculosis occurs at all age ranges, but it is predominant in males in their fourth and fifth decades. It is a serious, insidious disease, generally developing symptoms only at a late stage, which leads to a diagnostic delay with consequent urogenital organ destruction; there are reports of patients with renal failure as their initial clinical presentation...
January 2017: Microbiology Spectrum
https://www.readbyqxmd.com/read/28087438/dopa-responsive-dystonia-in-chinese-patients-including-a-novel-heterozygous-mutation-in-the-gch1-gene-with-an-intermediate-phenotype-and-one-case-of-prenatal-diagnosis
#3
Wen Zhang, Zhizi Zhou, Xiuzhen Li, Yonglan Huang, Taolin Li, Yunting Lin, Yongxian Shao, Hao Hu, Hongsheng Liu, Li Liu
Dopa-responsive dystonia (DRD) is a rare inherited disorder characterized by childhood-onset dystonia with diurnal fluctuation and dramatic response to levodopa. DRD is caused by the mutations in the genes encoding the enzymes involved in the dopamine and tetrahydrobiopterin (BH4) biosynthesis, including the GTP cyclohydrolase 1 (GCH1) gene and the tyrosine hydroxylase (TH) gene. In order to improve the diagnosis and expand the knowledge of the disease, we collected and analyzed relevant data of clinical diagnosis and molecular mutational analysis in five Chinese patients with DRD...
January 10, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28087089/point-of-care-ultrasound-diagnosis-of-posterior-sternoclavicular-joint-dislocation
#4
Rachel R Bengtzen, Ryan C Petering
BACKGROUND: Posterior sternoclavicular dislocations can be challenging diagnostically, as traumatic force often happens to the lateral shoulder rather than directly to the sternoclavicular joint. Shoulder radiographs do not illustrate the sternoclavicular joint well, and can miss the diagnosis. This injury, however, has the potential for life-threatening complications due to proximity of mediastinal structures that might also be injured. CASE REPORT: The following case illustrates a delayed diagnosis of posterior sternoclavicular dislocation...
January 10, 2017: Journal of Emergency Medicine
https://www.readbyqxmd.com/read/28087054/care-pathway-of-patients-with-metastatic-pancreatic-cancer-in-daily-practice-in-france-results-from-the-repere-national-survey
#5
Pascal Hammel, Romain Coriat, Gérard Lledo, Mariella de Bausset, Marion Selosse, Stéphane Obled, Franck Bonnetain
Data in the literature regarding the care pathway of pancreatic cancer patients are limited. The objective of the REPERE survey was to identify and describe the initial stages of the care pathway of pancreatic patients in the metastatic phase. From May to October 2015, 62 oncologists (ON) or gastroenterologists specialized in digestive oncology (GESDO) and 300 general practitioners (GP) completed an electronic questionnaire on the pathway of 728 patients recently diagnosed with metastatic pancreatic adenocarcinoma...
January 10, 2017: Bulletin du Cancer
https://www.readbyqxmd.com/read/28087048/-characteristics-and-risk-factors-for-recurrence-of-cutaneous-squamous-cell-carcinoma-with-conventional-surgery-and-surgery-with-delayed-intraoperative-margin-assessment
#6
Judith Domínguez-Cherit, Georgina Rodríguez-Gutiérrez, Verónica Narváez Rosales, Sonia Toussaint Caire, Verónica Fonte Avalos
BACKGROUND: Non-melanoma skin cancer includes basal cell carcinoma and squamous cell carcinoma (SCC). Basal cell carcinoma is the most common and least aggressive but in a low percentage of cases, despite appropriate wide surgical margins, it can be aggressive, producing local invasion, recurrences and distance metastasis. SCC has a more aggressive behaviour invading first the skin, the lymph nodes and less frequently produces distance metastasis OBJECTIVE: To identify the characteristics of recurrent SCC and frequency of new SCC after conventional surgical and primary closure or closure delayed until a histological reporting of tumour-free surgical margins, in order to achieve a better surgical option, in our Mexican population...
January 10, 2017: Cirugia y Cirujanos
https://www.readbyqxmd.com/read/28086757/a-combination-of-genetic-and-biochemical-analyses-for-the-diagnosis-of-pi3k-akt-mtor-pathway-associated-megalencephaly
#7
Yutaka Negishi, Fuyuki Miya, Ayako Hattori, Yoshikazu Johmura, Motoo Nakagawa, Naoki Ando, Ikumi Hori, Takao Togawa, Kohei Aoyama, Kei Ohashi, Shinobu Fukumura, Seiji Mizuno, Ayako Umemura, Yoko Kishimoto, Nobuhiko Okamoto, Mitsuhiro Kato, Tatsuhiko Tsunoda, Mami Yamasaki, Yonehiro Kanemura, Kenjiro Kosaki, Makoto Nakanishi, Shinji Saitoh
BACKGROUND: Constitutive activation of the PI3K-AKT-mTOR pathway (mTOR pathway) underlies megalencephaly in many patients. Yet, prevalence of the involvement of the PI3K-AKT-mTOR pathway in patients with megalencephaly remains to be elucidated, and molecular diagnosis is challenging. Here, we have successfully established a combination of genetic and biochemical methods for diagnosis of mTOR pathway-associated megalencephaly, and have attempted to delineate the clinical characteristics of the disorder...
January 13, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28081578/birth-prevalence-of-anorectal-malformations-for-the-western-cape-province-south-africa-2005-to-2012
#8
Andre Theron, Alp Numanoglu
Introduction Anorectal malformations (ARMs) are a major birth anomaly worldwide. South Africa has ethnically and geologically diverse populations. A recent publication indicated an increased birth prevalence of ARMs in the Witwatersrand referral area between 2005 and 2010. The purpose of this study was to determine the birth prevalence of ARM and its various subtypes in the Western Cape referral district over an 8-year period. Methods For an 8-year period from January 1, 2005, to December 31, 2012; retrospective data were collected from the Pediatric Surgical Departments of Red Cross War Memorial Children's Hospital, Tygerberg Children's Hospital, as well as the private sector health registries...
January 12, 2017: European Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28081549/microrna-promoter-methylation-a-new-tool-for-accurate-detection-of-urothelial-carcinoma
#9
Nuno André Padrão, Sara Monteiro-Reis, Jorge Torres-Ferreira, Luís Antunes, Luís Leça, Diana Montezuma, João Ramalho-Carvalho, Paula C Dias, Paula Monteiro, Jorge Oliveira, Rui Henrique, Carmen Jerónimo
BACKGROUND: Urothelial carcinoma (UC) is the most common cancer affecting the urinary system, worldwide. Lack of accurate early detection tools entails delayed diagnosis, precluding more efficient and timely treatment. In a previous study, we found that miR-129-2 and miR-663a were differentially methylated in UC compared with other genitourinary tract malignancies. Here, we evaluated the diagnostic performance of those microRNAs in urine. METHODS: Promoter methylation levels of miR-129-2 and miR-663a were assessed, using real-time quantitative methylation-specific PCR, in UC tissue samples (using normal urothelium as control) and, subsequently, in urine samples from UC and other genitourinary malignancies...
January 12, 2017: British Journal of Cancer
https://www.readbyqxmd.com/read/28081131/-i-wasted-3-years-thinking-it-s-not-a-problem-patient-and-health-system-delays-in-diagnosis-of-leprosy-in-india-a-mixed-methods-study
#10
Thirumugam Muthuvel, Srinivas Govindarajulu, Petros Isaakidis, Hemant Deepak Shewade, Vasudev Rokade, Rajbir Singh, Sanjeev Kamble
BACKGROUND: Worldwide, leprosy is one of the major causes of preventable disability. India contributes to 60% of global leprosy burden. With increasing numbers of leprosy with grade 2 disability (visible disability) at diagnosis, we aimed to determine risk factors associated with grade 2 disability among new cases and explore patients and providers' perspectives into reasons for late presentation. METHODOLOGY/PRINCIPAL FINDINGS: This was an explanatory mixed-methods study where the quantitative component, a matched case-control design, was followed by a qualitative component...
January 2017: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/28081025/transdermal-scopolamine-withdrawal-syndrome-case-report-in-the-pediatric-cerebral-palsy-population
#11
Nasim A Chowdhury, Mary Laura Sewatsky, Heakyung Kim
Sialorrhea in children with cerebral palsy (CP) results in aspiration, decreased social integration, and poor quality of life. Management options include transdermal anticholinergics such as the scopolamine patch. A controlled clinical trial has proven botulinum toxin (BTX) injections into the salivary glands are an effective alternative to transdermal anticholinergics with a safer side effect profile. Multiple studies of the injections in diverse populations demonstrate reduction in saliva production with improvement in quality of life and decrease in hospitalization-associated costs...
January 9, 2017: American Journal of Physical Medicine & Rehabilitation
https://www.readbyqxmd.com/read/28080255/assessing-long-term-prognosis-improvement-as-a-consequence-of-treatment-pattern-changes-in-ms
#12
Ruggero Capra, Cinzia Cordioli, Sarah Rasia, Fabio Gallo, Alessio Signori, Maria Pia Sormani
OBJECTIVE: To assess whether the age at which multiple sclerosis (MS) patients reach Expanded Disability Status Scale (EDSS) milestones changed as long as new drugs for the treatment of MS became available. METHODS: We evaluated the long-term impact of therapies on disability progression assessing whether there is a detectable delay in the age at which patients reached EDSS milestones in more recent years. We used data collected over more than 30 years in the Center of Brescia, Italy...
January 1, 2017: Multiple Sclerosis: Clinical and Laboratory Research
https://www.readbyqxmd.com/read/28079720/%C3%A2-s%C3%A3-lo-se-vive-una-vez-you-only-live-once-a-pilot-evaluation-of-individually-tailored-video-modules-aiming-to-increase-hiv-testing-among-foreign-born-latino-men
#13
Suzanne M Dolwick Grieb, Alejandra Flores-Miller, Kathleen R Page
BACKGROUND: Although Latinos living in the United States are disproportionately affected by HIV, the development, implementation, and evaluation of HIV prevention, testing, and linkage to care interventions lag behind efforts occurring in other communities. To address sociocultural barriers to testing, we developed a multilevel intervention. This study is a pilot evaluation of the individual-level component of the intervention-animated video modules that address specific barriers to HIV testing common among foreign-born Latino men...
February 1, 2017: Journal of Acquired Immune Deficiency Syndromes: JAIDS
https://www.readbyqxmd.com/read/28079591/point-of-care-diagnostics-extending-the-laboratory-network-to-reach-the-last-mile
#14
Paul K Drain, Christine Rousseau
PURPOSE OF REVIEW: More point-of-care (POC) diagnostic tests are becoming available for HIV diagnosis and treatment in resource-limited settings. These novel technologies have the potential to foster decentralized HIV care and treatment for the benefit of clinical laboratories, HIV clinics, and HIV-infected patients. There continue to be many business, technological, and operational challenges that limit product development and regulatory approval, which limits products available for the required operational and cost-effectiveness studies and delays policy adoption and implementation...
January 11, 2017: Current Opinion in HIV and AIDS
https://www.readbyqxmd.com/read/28079113/congenital-hearing-loss
#15
Anna M H Korver, Richard J H Smith, Guy Van Camp, Mark R Schleiss, Maria A K Bitner-Glindzicz, Lawrence R Lustig, Shin-Ichi Usami, An N Boudewyns
Congenital hearing loss (hearing loss that is present at birth) is one of the most prevalent chronic conditions in children. In the majority of developed countries, neonatal hearing screening programmes enable early detection; early intervention will prevent delays in speech and language development and has long-lasting beneficial effects on social and emotional development and quality of life. A diagnosis of hearing loss is usually followed by a search for an underlying aetiology. Congenital hearing loss might be attributed to environmental and prenatal factors, which prevail in low-income settings; congenital infections, particularly cytomegalovirus infection, are also a common risk factor for hearing loss...
January 12, 2017: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/28078861/interleukin-6-and-interleukin-8-in-diagnosing-neonatal-septicemia
#16
Y Q Wu, J Shen, Q L Zhou, H W Zhao, L R Liu, X Liu
Neonatal septicemia (NS) is a common cause of death of newborn infants, hence early diagnosis and treatment are of the utmost importance. However, lack of specific clinical symptoms and late detection delay a correct diagnosis. It is therefore of great importance to establish auxiliary indexes for the early diagnosis of NS. To evaluate the value of interleukin (IL-6 and IL-8) in the diagnosis of NS, a prospective study was carried out. Seventy-five newborns who developed septicemia and received treatment in our hospital from January 2013 to December 2014 were selected as research subjects; also, 50 healthy newborns were set as a control group...
October 2016: Journal of Biological Regulators and Homeostatic Agents
https://www.readbyqxmd.com/read/28077157/clinical-biochemical-and-molecular-characteristics-of-filipino-patients-with-mucopolysaccharidosis-type-ii-hunter-syndrome
#17
Mary Anne D Chiong, Daffodil M Canson, Mary Ann R Abacan, Melissa Mae P Baluyot, Cynthia P Cordero, Catherine Lynn T Silao
BACKGROUND: Mucopolysaccharidosis type II, an X-linked recessive disorder is the most common lysosomal storage disease detected among Filipinos. This is a case series involving 23 male Filipino patients confirmed to have Hunter syndrome. The clinical and biochemical characteristics were obtained and mutation testing of the IDS gene was done on the probands and their female relatives. RESULTS: The mean age of the patients was 11.28 (SD 4.10) years with an average symptom onset at 1...
January 11, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28077135/comorbidity-study-of-borderline-personality-disorder-applying-association-rule-mining-to-the-taiwan-national-health-insurance-research-database
#18
Cheng-Che Shen, Li-Yu Hu, Ya-Han Hu
BACKGROUND: Borderline personality disorder (BPD) is a complex clinical state with highly polymorphic symptoms and signs. Studies have demonstrated that people with a BPD diagnosis are likely to have numerous co-occurring psychiatric disorders and physical comorbidities. The aim of our study was to obtain further insight about the associations among comorbidities of BPD and to demonstrate the practicality of using association rule mining (ARM) technique in clinical databases. METHODS: A retrospective case-control study was conducted on information of 1460 patients (292 BPD patients and 1168 control patients) selected from the Taiwan National Health Insurance Research Database...
January 11, 2017: BMC Medical Informatics and Decision Making
https://www.readbyqxmd.com/read/28077058/imaging-investigations-before-referral-to-a-sarcoma-center-delay-the-final-diagnosis-of-musculoskeletal-sarcoma
#19
Heidi Buvarp Dyrop, Peter Vedsted, Mathias Rædkjær, Akmal Safwat, Johnny Keller
Background and purpose - The use of point-of-care or local investigations before referral to specialist sarcoma centers as part of a fast-track diagnostic pathway varies, and may affect the time to diagnosis. We wanted to investigate differences in time intervals and proportion of malignancy in patients who were referred after initial diagnostic investigations were performed locally and in patients who were referred without these investigations. Patients and methods - We included 545 consecutive patients who were referred to Aarhus Sarcoma Center for suspected musculoskeletal sarcoma...
January 12, 2017: Acta Orthopaedica
https://www.readbyqxmd.com/read/28076752/methotrexate-associated-primary-hepatic-malignant-lymphoma-following-hepatectomy-a-case-report
#20
Daisuke Takei, Tomoyuki Abe, Hironobu Amano, Naomichi Hirano, Tsuyoshi Kobayashi, Hideki Ohdan, Toshinori Kondo, Masahiro Nakahara, Toshio Noriyuki
INTRODUCTION: Recently, immunosuppressant-associated malignant lymphoma (ML) cases have been increasing along with the development of several effective immunosuppressant drugs for rheumatoid arthritis (RA). Among methotrexate (MTX)-associated lymphoproliferative disorders, primary hepatic lymphoma (PHL) in patients with RA following surgical resection has not been reported previously. PRESENTATION OF CASE: A 65-year-old woman who is a hepatitis B virus carrier with a history of RA was admitted...
December 21, 2016: International Journal of Surgery Case Reports
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