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https://www.readbyqxmd.com/read/28730618/undiagnosed-chronic-temporomandibular-joiny-pain-making-a-case-for-fdg-pet-ct
#1
Dwight D Rice, Kenneth Abramovitch, Susan Roche, Cherie A Cora, Karina D Torralba, Heidi L Christensen, Edwin L Christiansen
No abstract text is available yet for this article.
July 21, 2017: International Journal of Rheumatic Diseases
https://www.readbyqxmd.com/read/28729177/the-iowa-voiding-improvement-partnership-experience-early-observations-with-a-collaborative-pediatric-uro-psychologic-clinic
#2
K M Bonnett, L L Fuller, C S Cooper, A M Arlen, D W Storm
INTRODUCTION: Bladder and bowel dysfunction (BBD) are common problems in children presenting for pediatric urology referral. Psychiatric issues may be present in these children, making their treatment difficult. In 2013, the University of Iowa Voiding Improvement Partnership (VIP) Clinic was established for the treatment of these patients. STUDY OBJECTIVE: This study sought to evaluate early experience with this specialized clinic, to determine the pre-existing urologic and psychologic conditions seen in these clinic patients, and to evaluate the clinical outcomes after VIP treatment...
July 1, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28728758/large-genetic-study-uncovers-14-new-genes-responsible-for-developmental-disorders-in-children
#3
Deborah L McBride
The exomes of 4293 families with individuals with undiagnosed developmental disorders were sequenced to identify de novo mutations. The researchers identified 14 new genetic disorders.
July 2017: Journal of Pediatric Nursing
https://www.readbyqxmd.com/read/28728103/freiberg-s-infraction-a-modified-closing-wedge-osteotomy-for-an-undiagnosed-case
#4
Carlo Biz, Alessandro Zornetta, Ilaria Fantoni, Alberto Crimì, Enrico Bordignon, P Ruggieri
INTRODUCTION: Freiberg's infraction is an osteonecrosis affecting the metatarsal head whose pathogenesis is not fully understood, although stress overloading by multiple microtraumas remains the most widely accepted cause. Operative treatment, by different techniques, is necessary when conservative treatment fails. PRESENTATION OF CASE: A 31-year old woman presented with left foot severe pain, especially at the level of the metatarsophalangeal joint (MTPJ) of the second ray, underestimated upon initial evaluation...
July 10, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28726809/genomic-diagnostics-within-a-medically-underserved-population-efficacy-and-implications
#5
Kevin A Strauss, Claudia Gonzaga-Jauregui, Karlla W Brigatti, Katie B Williams, Alejandra K King, Cristopher Van Hout, Donna L Robinson, Millie Young, Kavita Praveen, Adam D Heaps, Mindy Kuebler, Aris Baras, Jeffrey G Reid, John D Overton, Frederick E Dewey, Robert N Jinks, Ian Finnegan, Scott J Mellis, Alan R Shuldiner, Erik G Puffenberger
PurposeWe integrated whole-exome sequencing (WES) and chromosomal microarray analysis (CMA) into a clinical workflow to serve an endogamous, uninsured, agrarian community.MethodsSeventy-nine probands (newborn to 49.8 years) who presented between 1998 and 2015 remained undiagnosed after biochemical and molecular investigations. We generated WES data for probands and family members and vetted variants through rephenotyping, segregation analyses, and population studies.ResultsThe most common presentation was neurological disease (64%)...
July 20, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28726033/recommendations-for-the-inclusion-of-fabry-disease-as-a-rare-febrile-condition-in-existing-algorithms-for-fever-of-unknown-origin
#6
Raffaele Manna, Roberto Cauda, Sandro Feriozzi, Giovanni Gambaro, Antonio Gasbarrini, Didier Lacombe, Avi Livneh, Alberto Martini, Huri Ozdogan, Antonio Pisani, Eleonora Riccio, Elena Verrecchia, Lorenzo Dagna
Fever of unknown origin (FUO) is a rather rare clinical syndrome representing a major diagnostic challenge. The occurrence of more than three febrile attacks with fever-free intervals of variable duration during 6 months of observation has recently been proposed as a subcategory of FUO, Recurrent FUO (RFUO). A substantial number of patients with RFUO have auto-inflammatory genetic fevers, but many patients remain undiagnosed. We hypothesize that this undiagnosed subgroup may be comprised of, at least in part, a number of rare genetic febrile diseases such as Fabry disease...
July 19, 2017: Internal and Emergency Medicine
https://www.readbyqxmd.com/read/28725996/improvement-of-tricuspid-regurgitation-after-transcatheter-asd-closure-in-older-patients
#7
L Chen, J Shen, X Shan, F Wang, T Kan, X Tang, X Zhao, Y Qin
BACKGROUND: Adult patients with undiagnosed atrial septal defect (ASD) may have right heart cavity enlargement and functional tricuspid valve insufficiency. Moderate or more severe tricuspid regurgitation has been associated with a worse prognosis, and more serious complications are typically seen in older patients. This study aimed to evaluate the improvement in functional tricuspid regurgitation and heart geometry after transcatheter ASD closure in older patients. PATIENTS AND METHODS: The data of 111 patients over 60 years of age with moderate or severe tricuspid regurgitation before ASD closure were analyzed...
July 19, 2017: Herz
https://www.readbyqxmd.com/read/28725327/prevalence-of-undiagnosed-cardiovascular-risk-factors-in-adults-aged-20-40-a-cross-sectional-study-in-2016-in-jeddah-saudi-arabia
#8
Faisal Saed Alharthi, Jamilah Saad Alrahimi, Abdulrahman Ali Alotaibi, Daniah Ahmed Alhamdi, Bashair Mohammed Ibrahim, Yasmina Aymen Badeeb
BACKGROUND: Cardiovascular diseases (CVDs) are the first leading cause of death worldwide. In Saudi Arabia, CVDs are the major killers with a mortality rate of 46%. CVD risk factors are not exclusive to old populations. Thus, the purpose of this study was to approximately find the prevalence of these risk factors, particularly high blood pressure (HBP), high blood glucose (HBG), obesity, and smoking. METHODS: This cross-sectional was conducted in May 2016 and took place in the Ambulatory Care Center of King Abdulaziz Medical City, Jeddah...
June 2017: Cardiology Research
https://www.readbyqxmd.com/read/28724984/ph-and-urea-estimation-in-urine-samples-using-single-fluorophore-and-ratiometric-fluorescent-biosensors
#9
Rashmi Chaudhari, Abhijeet Joshi, Rohit Srivastava
Kidney diseases remain often undiagnosed due to inefficient screening methods available at patient's disposal. Early diagnosis and effective management of kidney problems can best be addressed by the development of biosensors for commonly occurring clinical biomarkers. Here we report the development of single fluorophore and dual fluorophore ratiometric biosensors based on alginate microspheres for pH and urea analysis in urine samples. A facile method of air driven atomization was used for developing these polymeric fluorophore and enzyme based biosensors...
July 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28724826/bilateral-normal-tension-glaucoma-can-this-be-nutritional
#10
Sirisha Senthil, Kiranmaye Turaga
Normal tension glaucoma (NTG) also known as low tension glaucoma, presents with optic nerve head and visual field damage in the absence of high intraocular pressure (<21 mmHg). There are several patients of NTG seen in our clinics who have repeatable visual field defects, which may or may not correlate with the disc appearance, but are labeled as glaucoma. Ruling out ischemic, nutritional, and other causes of one-time damage are important before diagnosing an NTG. We report 3 such cases that were misdiagnosed and referred as NTG...
July 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/28724455/a-seroprevalence-study-to-determine-the-frequency-of-hantavirus-infection-in-people-exposed-to-wild-and-pet-fancy-rats-in-england
#11
J M Duggan, R Close, L McCann, D Wright, M Keys, N McCarthy, T Mannes, A Walsh, A Charlett, T J G Brooks
Recent cases of acute kidney injury due to Seoul hantavirus infection from exposure to wild or pet fancy rats suggest this infection is increasing in prevalence in the UK. We conducted a seroprevalence study in England to estimate cumulative exposure in at-risk groups with contact with domesticated and wild rats to assess risk and inform public health advice. From October 2013 to June 2014, 844 individual blood samples were collected. Hantavirus seroprevalence amongst the pet fancy rat owner group was 34.1% (95% CI 23·9-45·7%) compared with 3·3% (95% CI 1·6-6·0) in a baseline control group, 2·4% in those with occupational exposure to pet fancy rats (95% CI 0·6-5·9) and 1·7% with occupational exposure to wild rats (95% CI 0·2-5·9)...
July 20, 2017: Epidemiology and Infection
https://www.readbyqxmd.com/read/28722608/active-tuberculosis-case-finding-in-haiti
#12
Jack Masur, Serena P Koenig, Pierrot Julma, Oksana Ocheretina, Maria A Durán-Mendicuti, Daniel W Fitzgerald, Jean W Pape
In 2010, Haiti suffered from a devastating earthquake; data on the impact on the tuberculosis (TB) epidemic are limited. From January to June 2013, we conducted active case finding at the household level in a slum in Port-au-Prince. Community health workers identified individuals with cough ≥ 2 weeks, and referred them for evaluation. Contact tracing was conducted for patients with active TB. Of an estimated 7,500 residents screened, 394 (5%) had cough and were tested for TB. One hundred (25%) were diagnosed with active TB; 53 (53%) were smear positive...
May 30, 2017: American Journal of Tropical Medicine and Hygiene
https://www.readbyqxmd.com/read/28722004/oral-gingival-metastasis-a-diagnostic-dilemma
#13
Nalini Aswath, Chandrakanth Balakrishnan, Vidyarani Shyamsundar, Sarumathi Thirrugnanamurthy
Oral cavity is a rare target for metastasis with an incidence of 1% among all oral cancers. In 24% of such cases, oral metastasis is the first indication of an undiagnosed primary. Metastatic oral malignancies have been reported in the mandible, tongue, and gingiva. Although gingival metastasis has been reported from lung, prostate, rectal carcinoma in men and carcinoma of breast, adrenal glands, and genitalia in females, gingival metastasis from carcinoma of the penis has not been reported. Herein, a case of metastatic gingival carcinoma that developed after extraction of teeth from primary carcinoma of the penis is presented...
May 2017: Indian Journal of Dental Research: Official Publication of Indian Society for Dental Research
https://www.readbyqxmd.com/read/28721349/hepatocellular-carcinoma-early-stage-management-challenges
#14
REVIEW
Derek J Erstad, Kenneth K Tanabe
Hepatocellular carcinoma (HCC) is a major cause of cancer death and is increasing in incidence. This review focuses on HCC surveillance and treatment of early-stage disease, which are essential to improving outcomes. Multiple societies have published HCC surveillance guidelines, but screening efforts have been limited by noncompliance and overall lack of testing for patients with undiagnosed chronic liver disease. Treatment of early-stage HCC has become increasingly complex due to expanding therapeutic options and better outcomes with established treatments...
2017: Journal of Hepatocellular Carcinoma
https://www.readbyqxmd.com/read/28719515/anaesthetic-management-of-patients-with-myopathies
#15
Mark Schieren, Jerome Defosse, Andreas Böhmer, Frank Wappler, Mark U Gerbershagen
: The anaesthetic management of patients with myopathies is challenging. Considering the low incidence and heterogeneity of these disorders, most anaesthetists are unfamiliar with key symptoms, associated co-morbidities and implications for anaesthesia. The pre-anaesthetic assessment aims at the detection of potentially undiagnosed myopathic patients and, in case of known or suspected muscular disease, on the quantification of disease progression. Ancillary testing (e.g. echocardiography, ECG, lung function testing etc...
July 15, 2017: European Journal of Anaesthesiology
https://www.readbyqxmd.com/read/28718249/frequency-of-undiagnosed-chronic-obstructive-pulmonary-disease-in-patients-with-coronary-artery-disease
#16
Raza Ullah, Shahid Salam, Tahir Ghaffar, Rahim Muhammad, Imran Khan
BACKGROUND: Chronic obstructive airway disease (COPD) is considered as risk factor for coronary artery disease (CAD) along with other risk factors. This study was conducted to determine the frequency of undiagnosed chronic obstructive pulmonary disease in patients with coronary artery disease. METHODS: This cross-sectional study was conducted in the Pulmonology and Cardiology wards/OPD's of Khyber Teaching Hospital Peshawar. Patients more than 35 years of age, diagnosed with CAD of either gender were included...
April 2017: Journal of Ayub Medical College, Abbottabad: JAMC
https://www.readbyqxmd.com/read/28717906/undiagnosed-liver-fibrosis-in-patients-undergoing-pancreatoduodenectomy-for-pancreatic-adenocarcinoma
#17
Andrew Gdowski, Houssam Osman, Umar Butt, Steve Foster, Dhiresh Rohan Jeyarajah
BACKGROUND: Chronic obstruction of the biliary system may cause hepatic fibrosis and liver failure. The purpose of this study was to define the incidence of unrecognized liver fibrosis in patients undergoing pancreaticoduodenectomy (PD). METHODS: Retrospective data were collected on patients undergoing PD during a 21-month period. Each patient had a core needle biopsy at the time of surgery by a hepatobiliary surgeon. RESULTS: This study identified 36 consecutive patients who were referred to a tertiary center and underwent pancreatoduodenectomy during a period of 21 months...
July 17, 2017: World Journal of Surgery
https://www.readbyqxmd.com/read/28717668/different-renal-phenotypes-in-related-adult-males-with-fabry-disease-with-the-same-classic-genotype
#18
Renzo Mignani, Mariarita Moschella, Giovanna Cenacchi, Ilaria Donati, Marta Flachi, Daniela Grimaldi, Davide Cerretani, Paola De Giovanni, Marcello Montevecchi, Angelo Rigotti, Alessandro Ravasio
BACKGROUND: Fabry disease related patients with classical mutation usually exhibit similar severe phenotype especially concerning renal manifestation. METHODS: A dry blood spot screening (DBS) and the DNA analysis has been performed in a 48-year-old man (Patient 1) because of paresthesia. RESULTS: The DBS revealed absent leukocyte α-Gal A enzyme activity while DNA analysis identified the I354K mutation. Serum creatinine and e-GFR were in normal range and also albuminuria and proteinuria were absent...
July 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28716860/novel-mechanisms-of-piezo1-dysfunction-in-hereditary-xerocytosis
#19
Edyta Glogowska, Eve R Schneider, Yelena Maksimova, Vincent P Schulz, Kimberly Lezon-Geyda, John Wu, Kottayam Radhakrishnan, Siobán B Keel, Donald Mahoney, Alison M Freidmann, Rachel A Altura, Elena O Gracheva, Sviatoslav N Bagriantsev, Theodosia A Kalfa, Patrick G Gallagher
Mutations in PIEZO1 are the primary cause of hereditary xerocytosis, a clinically heterogeneous, dominantly inherited disorder of erythrocyte dehydration. We utilized next generation sequencing-based techniques to identify PIEZO1 mutations in individuals from 9 kindreds referred with suspected HX and/or undiagnosed congenital hemolytic anemia. Mutations were primarily found in the highly conserved, COOH-terminal pore region domain. Several mutations were novel and demonstrated ethnic specificity. We characterized these mutations using genomic, bioinformatic, cell biology, and physiology-based functional assays...
July 17, 2017: Blood
https://www.readbyqxmd.com/read/28715999/factors-affecting-interactome-based-prediction-of-human-genes-associated-with-clinical-signs
#20
Sara González-Pérez, Florencio Pazos, Mónica Chagoyen
BACKGROUND: Clinical signs are a fundamental aspect of human pathologies. While disease diagnosis is problematic or impossible in many cases, signs are easier to perceive and categorize. Clinical signs are increasingly used, together with molecular networks, to prioritize detected variants in clinical genomics pipelines, even if the patient is still undiagnosed. Here we analyze the ability of these network-based methods to predict genes that underlie clinical signs from the human interactome...
July 17, 2017: BMC Bioinformatics
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