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https://www.readbyqxmd.com/read/28641177/a-30-year-history-of-mpan-case-from-russia
#1
M Selikhova, E Fedotova, S Wiethoff, L V Schottlaender, S Klyushnikov, S N Illarioshkin, H Houlden
We present a patient with progressive spastic ataxia, with dystonia and anarthria undiagnosed until detailed genetic analysis revealed an MPAN mutation. Highlighting the worldwide MPAN distribution, a 30year history of absent diagnosis and the impact and cost saving of an early but detailed genetic analysis in complex progressive movement disorders, particularly the anarthric NBIA group.
June 2, 2017: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/28640938/obstructive-sleep-apnoea-and-polycystic-ovary-syndrome-a-comprehensive-review-of-clinical-interactions-and-underlying-pathophysiology
#2
REVIEW
Hassan Kahal, Ioannis Kyrou, Abd A Tahrani, Harpal S Randeva
Polycystic ovary syndrome (PCOS) is the most prevalent endocrine disorder in women of reproductive age. PCOS is associated with multiple co-morbidities including, obesity, insulin resistance and type 2 diabetes, as well as mood disorders and impaired quality of life (QoL). Obstructive sleep apnoea (OSA) is also a common medical condition that is often undiagnosed, particularly in women. OSA is associated with a similar spectrum of comorbidities to that observed in PCOS, including manifestations of the metabolic syndrome and impaired QoL, whilst obesity frequently constitutes a common denominator in the pathophysiology of both OSA and PCOS...
June 22, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28632524/callosal-motor-impersistence-a-novel-disconnection-syndrome
#3
Hee Jin Kim, Dongyeop Kim, Da-Heen Won, Juhee Chin, Kwang Ho Lee, Sang Won Seo, Kenneth M Heilman, Duk L Na
Motor impersistence, an inability to sustain a certain position or movement, is a motor-intentional disorder, caused more often by right than left hemisphere lesions. Since the right hemisphere is dominant for mediating motor persistence, callosal lesions that disconnect the left hemisphere from the right may induce impersistence of the right upper and lower limbs. After an undiagnosed left callosal infarction, a 65-year-old right-handed man suddenly developed a transient loss of volitional movement of his left leg...
June 2017: Cognitive and Behavioral Neurology: Official Journal of the Society for Behavioral and Cognitive Neurology
https://www.readbyqxmd.com/read/28628475/predictive-autoimmunity-using-autoantibodies-screening-for-anti-nuclear-antibodies
#4
Dolores Pérez, Boris Gilburd, Óscar Cabrera-Marante, Jose A Martínez-Flores, Manuel Serrano, Laura Naranjo, Daniel Pleguezuelo, Luis Morillas, Ora Shovman, Estela Paz-Artal, Yehuda Shoenfeld, Antonio Serrano
BACKGROUND: Early detection of antinuclear antibodies (ANA) in asymptomatic subjects is useful to predict autoimmune diseases years before diagnosis. ANA have been determined by indirect immunofluorescence (IIF) using human epithelial type 2 (HEp-2) cells, which is considered the gold standard technique. Multiplex technology (BioPlex ANA Screen) has been introduced for ANA evaluation in recent years. Nevertheless, concordance between BioPlex and IIF is low and there is no harmonization between both methods for detection of autoantibodies...
June 17, 2017: Clinical Chemistry and Laboratory Medicine: CCLM
https://www.readbyqxmd.com/read/28627059/first-detailed-nutritional-survey-in-a-referral-companion-animal-population
#5
V L Vandendriessche, P Picavet, M Hesta
Optimal nutrition in every life stage and certainly in diseased animals will contribute greatly to improve overall health and quality of life. The 5th VA guidelines have been designed to help veterinarians to implement a nutritional assessment into every patient, every time it comes into their practice. This nutritional survey in referral patients was conducted by one person skilled in acquiring detailed nutritional information and evaluating nutritional status. Two goals were set as follows: first to gain more insight into the nutritional status and management of referred patients and second to gain more insight in the nutritional recommendations given by the treating veterinarian...
June 2017: Journal of Animal Physiology and Animal Nutrition
https://www.readbyqxmd.com/read/28626444/aging-with-cerebral-small-vessel-disease-and-dizziness-the-importance-of-undiagnosed-peripheral-vestibular-disorders
#6
Niccolò Cerchiai, Michelangelo Mancuso, Elena Navari, Nicola Giannini, Augusto Pietro Casani
Recent studies showed a link between cerebral small vessel white matter disease (SVD) and dizziness: patients whose dizziness cannot be explained by vestibular disease show severe SVD and gait abnormalities; however, little is still known about how SVD can cause this symptom. The primary aim of this study is to examine the possible underlying causes of dizziness in neurovascular patients; this is in order to assess whether treatable causes could be routinely disregarded. A secondary aim is to possibly define a central oculomotor pattern induced per se by SVD...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28626404/case-of-ovarian-cancer-in-a-woman-with-undiagnosed-graves-disease-a-case-report-and-review-of-the-literature
#7
Timothy M Markman, Maurie Markman, Bennett W Clark
Epithelial ovarian cancer (OC) is a leading cause of death among females in the United States, due in part to challenges of diagnosis in the early stages of the disease. While efforts are underway to develop a high-quality screening test, it is equally important to consider whether high-risk populations are appropriate to screen. One such population may be females with hyperthyroidism, as epidemiologic studies have shown an association between this condition and OC. In this report, we present a case of a female with OC and Graves' disease to highlight the potential significance of this association...
May 2017: Case Reports in Oncology
https://www.readbyqxmd.com/read/28623950/work-outcome-in-yet-undiagnosed-patients-with-non-radiographic-axial-spondyloarthritis-and-ankylosing-spondylitis-results-of-a-cross-sectional-study-among-patients-with-chronic-low-back-pain
#8
Lonneke van Hoeven, Annelies E R C H Boonen, Johanna M W Hazes, Angelique E A M Weel
BACKGROUND: To understand the impact of yet undiagnosed non-radiographic axial spondyloarthritis (nr-axSpA) and ankylosing spondylitis (AS) on work outcomes in a cohort of patients with long-lasting chronic low back pain (CLBP). METHODS: Data were used from a primary care CLBP cohort that was established to understand the prevalence of nr-axSpA and AS. Clinical characteristics comprised measures of back pain (visual analogue scale), inflammation (C-reactive protein) and physical functioning (Roland Morris Disability Questionnaire (RMDQ))...
June 17, 2017: Arthritis Research & Therapy
https://www.readbyqxmd.com/read/28623408/plexiform-neurofibroma-causing-an-ossifying-subperiosteal-haematoma-a-rare-case-in-the-tibia-of-an-11-year-old-girl
#9
Anton Lavell, Christopher W Jones, Daniel Wong, Peter Counsel, Richard Carey-Smith
Ossifying subperiosteal haematoma is an exceedingly rare manifestation of Neurofibromatosis type 1 (NF-1). We report an interesting case of plexiform neurofibroma causing a rapidly growing tibial mass as a result of subperiosteal haemorrhage, in an 11-year-old girl with previously undiagnosed NF-1. This reflects a precursor of the more mature periosteal ossification seen in cases traditionally termed "subperiosteal cysts". A previously well young girl was referred by her general practitioner with an increasingly large, mildly tender, soft lump on the anterior aspect of her right tibia...
June 16, 2017: Skeletal Radiology
https://www.readbyqxmd.com/read/28623018/spiked-helmet-sign-after-percutaneous-left-stellate-ganglion-ablation-in-a-patient-with-long-qt-syndrome
#10
Farid Aliyev, Vugar Abdulkerimov, Enes Elvin Gul, Fuad Samedov, Elnur Isayev, Elnur Ferecov
"Spiked helmet" is a type of ST elevation, which is generally observed in critically ill patients and associated with very poor prognosis. Here we present a case of previously undiagnosed long QT syndrome admitted with polymorphic ventricular tachycardia (PMVT) unresponsive to pharmacological treatment and developed "spiked helmet" sign after left percutaneous stellate ganglion ablation.
June 9, 2017: Journal of Electrocardiology
https://www.readbyqxmd.com/read/28622969/probability-of-undiagnosed-obstructive-sleep-apnea-does-not-correlate-with-adverse-pulmonary-events-nor-length-of-stay-in-hip-and-knee-arthroplasty-using-intrathecal-opioid
#11
Matthew J Thompson, Bryce N Clinger, Robert M Simonds, Camille J Hochheimer, Laura A Lahaye, Gregory J Golladay
BACKGROUND: Recent emphasis on bundled payments and outcomes tracking has increased the focus on preoperative optimization in patients undergoing elective lower extremity arthroplasty. Since patients with obstructive sleep apnea (OSA) have an increased risk of adverse perioperative pulmonary events, screening for undiagnosed OSA is sometimes included as part of preoperative risk assessment. However, there are limited data regarding quantification of OSA risk in lower extremity arthroplasty patients, and little is known about the utility of quantitative OSA screening and the risk of pulmonary complications in hip and knee arthroplasty patients who receive intrathecal morphine anesthetic...
April 14, 2017: Journal of Arthroplasty
https://www.readbyqxmd.com/read/28622545/diagnosing-psychogenic-nonepileptic-seizures-video-eeg-monitoring-suggestive-seizure-induction-and-diagnostic-certainty
#12
Stoyan Popkirov, Johannes Jungilligens, Wenke Grönheit, Jörg Wellmer
Psychogenic nonepileptic seizures (PNES) can remain undiagnosed for many years, leading to unnecessary medication and delayed treatment. A recent report by the International League Against Epilepsy Nonepileptic Seizures Task Force recommends a staged approach to the diagnosis of PNES (LaFrance, et al., 2013). We aimed to investigate its practical utility, and to apply the proposed classification to evaluate the role of long-term video-EEG monitoring (VEEG) and suggestive seizure induction (SSI) in PNES workup...
June 13, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28622177/postoperative-respiratory-complications-in-patients-at-risk-for-obstructive-sleep-apnea-a-single-institution-cohort-study
#13
Satya Krishna Ramachandran, Jaideep Pandit, Scott Devine, Aleda Thompson, Amy Shanks
BACKGROUND: Obstructive sleep apnea (OSA) is a prevalent condition that is associated with early postoperative respiratory complications (PRCs). As the majority of patients with OSA are undiagnosed, preoperative screening remains the most efficient method to identify suspected OSA. METHODS: This retrospective study was performed on patients undergoing anesthesia in a single academic medical center. We assigned OSA risk class retrospectively to all patients in the study by using the Perioperative Sleep Apnea Prediction (PSAP) score...
July 2017: Anesthesia and Analgesia
https://www.readbyqxmd.com/read/28621003/effect-of-periodontal-therapy-with-systemic-antimicrobials-on-parameters-of-metabolic-syndrome
#14
Sergio Bizzarro, Ubele van der Velden, Wijnand J Teeuw, Victor E A Gerdes, Bruno G Loos
AIM: To investigate the effect of basic periodontal therapy (BPT) with antimicrobials (AM) on the parameters of metabolic syndrome (MetS) (waist circumference, systolic/diastolic blood pressure [BP], HDL-cholesterol, triglycerides, glucose). METHODS: 110 periodontitis patients without known comorbidities and unaware of possible MetS, were randomly assigned to BPT (n=56) or BPT+AM (n=54) and followed for 12 months post-therapy. Number of patients with undiagnosed MetS, was also determined...
June 16, 2017: Journal of Clinical Periodontology
https://www.readbyqxmd.com/read/28620552/refractory-lactic-acidosis-in-small-cell-carcinoma-of-the-lung
#15
Daniel J Oh, Ellen Dinerman, Andrew H Matthews, Abraham W Aron, Katherine M Berg
BACKGROUND: Elevated lactate levels in critically ill patients are most often thought to be indicative of relative tissue hypoxia or type A lactic acidosis. Shock, severe anemia, and thromboembolic events can all cause elevated lactate due to tissue hypoperfusion, as well as the mitochondrial dysfunction thought to occur in sepsis and other critically ill states. Malignancy can also lead to elevation in lactate, a phenomenon described as type B lactic acidosis, which is much less commonly encountered in the critically ill...
2017: Case Reports in Critical Care
https://www.readbyqxmd.com/read/28620094/an-interrupted-time-series-analysis-to-determine-the-effect-of-an-electronic-health-record-based-intervention-on-appropriate-screening-for-type-2-diabetes-in-urban-primary-care-clinics-in-new-york-city
#16
Jeanine B Albu, Nancy Sohler, Rui Li, Xuan Li, Edwin Young, Edward W Gregg, Dennis Ross-Degnan
OBJECTIVE: To determine the impact of a health system-wide primary care diabetes management system, which included targeted guidelines for type 2 diabetes (T2DM) and prediabetes (dysglycemia) screening, on detection of previously undiagnosed dysglycemia cases. RESEARCH DESIGN AND METHODS: Intervention included electronic health record (EHR)-based decision support and standardized providers and staff training for using the American Diabetes Association guidelines for dysglycemia screening...
June 15, 2017: Diabetes Care
https://www.readbyqxmd.com/read/28617941/association-of-igg4-and-free-light-chain-with-idiopathic-pleural-effusion
#17
Yoriyuki Murata, Keisuke Aoe, Yuka Mimura-Kimura, Tomoyuki Murakami, Keiji Oishi, Tsuneo Matsumoto, Hiroshi Ueoka, Kazuto Matsunaga, Masafumi Yano, Yusuke Mimura
The cause of pleural effusion remains uncertain in approximately 15% of patients despite exhaustive evaluation. As recently described IgG4-related disease is a fibroinflammatory disorder that can affect various organs including the lungs, we investigate whether idiopathic pleural effusion includes IgG4-associated etiology. Between 2000 and 2012, we collected 830 pleural fluid samples and reviewed 35 patients with pleural effusions undiagnosed after pleural biopsy at Yamaguchi-Ube Medical Center. Importantly, IgG4 immunostaining revealed infiltration of IgG4-positive plasma cells in the pleura of 12 patients (34%, IgG4+ group)...
June 15, 2017: Clinical and Experimental Immunology
https://www.readbyqxmd.com/read/28617886/major-hereditary-gastrointestinal-cancer-syndromes-a-narrative-review
#18
REVIEW
Lakshmi Manogna Chintalacheruvu, Trudy Shaw, Avanija Buddam, Osama Diab, Thamer Kassim, Sandeep Mukherjee, Henry T Lynch
Gastrointestinal cancer is one of the major causes of death worldwide. Hereditary gastrointestinal cancer syndromes constitute about 5-10% of all cancers. About 20-25% of undiagnosed cases have a possible hereditary component, which is not yet established. In the last few decades, the advance in genomics has led to the discovery of multiple cancer predisposition genes in gastrointestinal cancer. Physicians should be aware of these syndromes to identify high-risk patients and offer genetic testing to prevent cancer death...
June 2017: Journal of Gastrointestinal and Liver Diseases: JGLD
https://www.readbyqxmd.com/read/28616807/skin-deep-enhanced-variable-may-help-explain-racial-disparities-in-type-2-diabetes-and-prediabetes
#19
Celia C Lo, Joanna Lara, Tyrone C Cheng
INTRODUCTION: The study refined definitions of type 2 diabetes and prediabetes (Pre-/T2D) via its four-category outcome variable. Respondents were identified as Pre-/T2D on the basis of (a) doctor's diagnosis only (i.e., managed Pre-/T2D); (b) biomarker only (i.e., undiagnosed Pre-/T2D); or (c) both diagnosis and biomarker (i.e., unmanaged Pre-/T2D). The reference was Pre-/T2D not indicated. We linked the outcome to social structural and social support factors, health care-related factors, mental disorder, and lifestyle variables, for each racial/ethnic group...
June 14, 2017: Diabetes Therapy: Research, Treatment and Education of Diabetes and related Disorders
https://www.readbyqxmd.com/read/28616719/are-partner-race-and-intimate-partner-violence-associated-with-incident-and-newly-diagnosed-hiv-infection-in-african-american-men-who-have-sex-with-men
#20
Matthew R Beymer, Nina T Harawa, Robert E Weiss, Chelsea L Shover, Brian R Toynes, Steven Meanley, Robert K Bolan
Black gay, bisexual, and other men who have sex with men (BMSM) experience a disparate rate of HIV infections among MSM. Previous analyses have determined that STI coinfection and undiagnosed HIV infection partly explain the disparity. However, few studies have analyzed the impact of partner-level variables on HIV incidence among BMSM. Data were analyzed for BMSM who attended the Los Angeles LGBT Center from August 2011 to July 2015 (n = 1974) to identify risk factors for HIV infection. A multivariable logistic regression was used to analyze predictors for HIV prevalence among all individuals at first test (n = 1974; entire sample)...
June 14, 2017: Journal of Urban Health: Bulletin of the New York Academy of Medicine
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