Science.gov

Sample records for classical clinical findings

  1. Find a Free Clinic

    MedlinePlus

    ... Dental, Medical, Rx's www.amissionofmercy.org A Storehouse Free. Medical Ministries 675 E Lexington Rd Mocksville , NC ... E-mail: Info@nafcclinics.org National Association of Free & Charitable Clinics © 2016

  2. Ureterolithiasis: classical and atypical findings on unenhanced helical computed tomography.

    PubMed

    Vaswani, Kuldeep K; El-Dieb, Adam; Vitellas, Kenneth M; Bennett, William F; Bova, James G

    2002-03-01

    Evaluation of patients with acute flank pain using helical computed tomography (CT) is a well-accepted, rapid, and safe procedure in the emergency setting. Various primary and secondary signs are described in the literature for evaluation of these patients. Our purpose is to demonstrate both the classical findings associated with ureteral calculi on unenhanced helical CT and atypical findings and potential pitfalls. We also provide readers with a systematic approach to interpreting unenhanced helical CT scans performed for acute flank pain.

  3. Clinical findings in temporomandibular disorders.

    PubMed

    Ozaki, Y; Shigematsu, T; Takahashi, S

    1990-08-01

    71 patients (16 males and 55 females) with temporomandibular (TM) disorders were examined for clinical symptoms of mandibular dysfunction. The frequency of TM disorders in the present study was higher in females (55 females, 77.5%) than in males (16 males, 22.5%); the ratio of females to males was about 3.4:1. The most frequent chief complaint was pain; limitation of opening movement was the next most common. Many patients had several of the major symptoms simultaneously. TM joint sounds were noted in 47 patients, including reciprocal clicking in 35 patients and crepitation in 12 patients. Tenderness with palpation of the TM joint and muscles were found in 46 patients; most of them complaining at two positions or more. Occlusal interferences were noted in various occlusal positions, and occlusal wear was found in 30 patients (42.3%). In recording the frequency of parafunction and bad habits, grinding of the teeth was found in 6 patients (8.5%), clenching of the teeth in 10 (14.1%), and unilateral mastication in 24 (33.8%).

  4. Acute pancreatitis: clinical vs. CT findings

    SciTech Connect

    Hill, M.C.; Barkin, J.; Isikoff, M.B.; Silver stein, W.; Kalser, M.

    1982-08-01

    In a prospective study of 91 patients with acute pancreatitis, computed tomographic (CT) findings were correlated with the clinical type of acute pancreatitis. In acute edematous pancreatitis (63 patients; 16 with repeat CT), CT was normal (28%) or showed inflammation limited to the pancreas (61%). Phlegmonous changes were present in 11%, including one patient with focal pancreatic hemorrhage, indicating that clinically unsuspected hemorrhagic pancreatitis can occur. In acute necrotizing (hemorrhagic, suppurative) pancreatitis (nine patients; eight with repeat CT), no patient had a normal CT scan and 89% had phlegmonous changes. One patient had hemorrhagic pancreatitis and three had abscesses. In acute exacerbation of chronic pancreatitis (10 patients; three with repeat CT), there were pancreatic calcifications (70%), a focal mass (40%), and pancreatic ductal dilation (30%). On follow-up CT, the findings of acute pancreatitis did not always disappear with resolution of the clinical symptons. This was especialy true of phlegmonous pancreatitis, where the CT findings could persist for months.

  5. Clinical findings in temporomandibular joint osteoarthrosis.

    PubMed

    Kopp, S

    1977-09-01

    The clinical findings in 20 patients with TMJ-crepitation (E1-group) and 19 patients with TMJ palpatory tenderness (E2-group) have been compared with the findings in 29 other patients with mandibular dysfunction (R-group). The patients underwent a clinical examination of the masticatory system and of the second distal interphalangeal joints (DIP II joints). No statistically significant differences could be found between groups with respect to clinical signs, occlusal interferences, or dental attrition. Loss of molar support was found to be significantly more frequent in the E1-group than in the R-group. The frequency of tenderness to palpation or pain on movement of DIP II joints was significantly higher in the E2-group than in the R-group. Periarticular bony swelling of DIP II joints was significantly correlated with TMJ-crepitation. The patients with TMJ-crepitation were considered to have TMJ-osteoarthrosis. The results of the present study indicate that patients with TMJ-OZ have a similar clinical picture to other patients with mandibular dysfunction and that molar loss plays a role in the etiology of TMJ-OA. PMID:271341

  6. Putting Research Findings into Clinical Practice

    PubMed Central

    Bhargava, Deepa; Al-Lawatia, Zainab; Al-Abri, Rashid; Bhargava, Kamlesh

    2012-01-01

    Objectives: A perception exists that clinicians in Oman are reluctant to adopt evidence-based practice (EBP). This pilot study was undertaken to study the feasibility of using EBP pathways at the point of care in otorhinolaryngology head and neck surgery. The ultimate aim was to facilitate EBP with the probability of developing a new system for implementing research findings/translational research at the clinical point of care. Methods: A cross-sectional prospective questionnaire pilot survey of clinicians at Sultan Qaboos University Hospital (SQUH), Oman, a tertiary care medical centre, was undertaken. Respondents included 135 physicians and surgeons with between 3 months and 25 years of clinical experience and included personnel ranging from interns to senior consultants, in areas ranging from primary care to specialist care. Results: Of those polled, 90% (95% confidence interval (CI) 85–95%) either strongly agreed or agreed that evidence-based practice protocols (EBPP) could help in decision making. A total of 87.4% of participants (95% CI 81.8–93%) either strongly agreed or agreed that EBPPs can improve clinical outcomes; 91.8% of participants (95% CI 87.2–96.4%) would use and apply EBPP in day-to-day care if they were available at the point of care and embedded in the hospital information system. Conclusions: The perception that clinicians at SQUH are reluctant to adopt EBP is incorrect. The introduction of EBP pathways is very feasible at the primary care level. Institutional support for embedding EBP in hospital information systems is needed as well as further outcome research to assess the improvement in quality of care. PMID:22548137

  7. A Classic Case of Subcutaneous Cysticercosis: A Rare Case with Sonological Findings and Review of Literature

    PubMed Central

    Naren Satya, Srinivas M.; Mayilvaganan, Kamala Retnam; Amogh, V.N.; Balakrishna, B.V.; Gautam, Munnangi Satya; Prathyusha, Ivvala Sai

    2016-01-01

    Summary Background Cysticercosis is a parasitic infection caused by the larval stages of the pork tapeworm, Taenia solium. The subcutaneous form of the disease is a relatively rare clinical entity. Despite its rarity, it is imperative for a radiologist to be aware of this subcutaneous form of the disease and its various radiological patterns while evaluating any subcutaneous swelling. In this paper, we aimed to describe a typical case of ‘subcutaneous cysticercosis involving the left anterior chest wall’ with high resolution ultrasound findings. We also discussed the role of other imaging modalities in a case of subcutaneous cysticercosis. To the best of our knowledge, our case is only the second documented case report of sonological evaluation of subcutaneous cysticercosis involving the left anterior chest wall and the first case with high resolution ultrasound images of the lesion. Case Report An 11-year-old male presented with a painless, subcutaneous swelling over the left anterior chest wall for the last 2 months. High resolution ultrasound showed a well-defined, thin-walled, cystic lesion with an eccentric, echogenic focus in the subcutaneous plane. On change of the posture of the patient, this focus showed mobility. The hypoechoic area surrounding this cyst showed significant exudative fluid collection with diffuse, floating echoes and thin, incomplete internal septations. The adjacent soft tissues were thickened and irregular, suggestive of edema. This was followed by an excision biopsy. Histopathological examination revealed cysticercus cellulose parasite with an extensive mixed inflammatory cell infiltrate in the surrounding tissue. The patient was also administered oral antihelminthic therapy. Repeat ultrasound examination at the end of this management regimen showed complete healing with no e/o any remnant or recurrent cystic lesion, abscess or edema in the subcutaneous plane. Conclusions Subcutaneous cysticercosis is a relatively rare form of

  8. Cytogenetics findings at Turner Syndrome and their correlation with clinical findings.

    PubMed

    Catović, Amra

    2005-08-01

    Turner Syndrome is a genetic condition in females that results from an abnormal chromosome. One of the X chromosomes is missing or misshapen in the most cells of the body. Three classics clinical symptoms of the syndrome are: incomplete sexual maturation, short stature and pterygium colli. Turner Syndrome is diagnosed by karyotyping. In the retrospective study for a twelve years period (1991-2002) correlation between clinical and cytogenetics findings was established in our Center among 47 examinees from all parts of Federation of Bosnia and Herzegovina, who had suspect clinical diagnosis of Turner Syndrome. The syndrome was demonstrated by cytogenetics examinations in 30(63,8%) examinees and excluded in 17 (36,2%) examinees. The most frequent karyotype is monosomy of X chromosome (45,X) found at 63,3%, than isochromosome of Xq (46,XisoXq) found at 16,7%, mosaic form (46,XX/45,X) and deletion of Xp (46,XdelXp) both at 6,7%, than deletion of Xq (46,XdelXq) and ring of Xp (46,XX/46,XringXp) both at 3,3%. Our results suggest that promptly and exactly diagnosis of Turner syndrome is very important due to introducing growth hormone therapy and estrogen therapy at a very young age.

  9. [New findings of clinical anatomy in pelvis].

    PubMed

    Muraoka, Kuniyasu; Takenaka, Atsushi

    2016-01-01

    Surgical anatomy involves clarifying the mutual relationships of each structure in the operative field. Knowledge of new surgical anatomy has arisen via new methods or approaches. Associated with the development and spread of laparoscopic surgery in recent years, adaptation to changes in surgical techniques using knowledge of classical pelvic anatomy has been difficult. Better knowledge of the delicate structures surrounding the prostate is essential in order to provide both cancer control and functional preservation with regard to radical prostatectomy. In this report, we review the progress in knowledge of pelvic anatomy, particularly regarding the endopelvic fascia, prostatic fascia and Denonvilliers' fascia.

  10. Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type.

    PubMed

    Malfait, Fransiska; Wenstrup, Richard J; De Paepe, Anne

    2010-10-01

    Classic Ehlers-Danlos syndrome is a heritable connective tissue disorder characterized by skin hyperextensibility, fragile and soft skin, delayed wound healing with formation of atrophic scars, easy bruising, and generalized joint hypermobility. It comprises Ehlers-Danlos syndrome type I and Ehlers-Danlos syndrome type II, but it is now apparent that these form a continuum of clinical findings and differ only in phenotypic severity. It is currently estimated that approximately 50% of patients with a clinical diagnosis of classic Ehlers-Danlos syndrome harbor mutations in the COL5A1 and the COL5A2 gene, encoding the α1 and the α2-chain of type V collagen, respectively. However, because no prospective molecular studies of COL5A1 and COL5A2 have been performed in a clinically well-defined patient group, this number may underestimate the real proportion of patients with classic Ehlers-Danlos syndrome harboring a mutation in one of these genes. In the majority of patients with molecularly characterized classic Ehlers-Danlos syndrome, the disease is caused by a mutation leading to a nonfunctional COL5A1 allele and resulting in haploinsufficiency of type V collagen. A smaller proportion of patients harbor a structural mutation in COL5A1 or COL5A2, causing the production of a functionally defective type V collagen protein. Most mutations identified so far result in a reduced amount of type V collagen in the connective tissues available for collagen fibrillogenesis. Inter- and intrafamilial phenotypic variability is observed, but no genotype-phenotype correlations have been observed. No treatment for the underlying defect is presently available for Ehlers-Danlos syndrome. However, a series of preventive guidelines are applicable.

  11. Finding a VOICE for UK clinical pharmacology.

    PubMed

    Aronson, Jeffrey K

    2012-06-01

    At a James Black Conference held in Oxford on 20-22 June 2011, a group of senior clinical pharmacologists and their junior colleagues, other medical specialists, and pharmacists discussed an agenda for UK clinical pharmacology for the next 5 years, addressing the following broad questions. How should UK clinical pharmacology be further developed and delivered as a discipline in universities, the NHS, pharmaceutical companies, and regulatory authorities? How should teaching and training in UK clinical pharmacology and therapeutics be delivered and assessed? What topics should be priorities for research in UK academic clinical pharmacology? How should clinical pharmacology contribute to UK drugs policy? How should pharmacology and clinical pharmacology be further integrated, to the benefit of both? Numerous recommendations emerged, under the collective acronym VOICE, standing for Visibility, Outreach, Integration, Coverage and Emissaries. VISIBILITY: The visibility of the discipline needs to be increased. This could be done, for example, by increased activities in acute general medicine/toxicology, through activities of Medicines and Therapeutics Committees, participation in grand rounds, teaching and training, and monitoring therapeutic interventions, and by offering bolt-on training for other specialists (for example, short courses, MSc courses, and training programmes). OUTREACH: Methods of increasing outreach include roadshows in schools/medical schools, national special study modules, public education, press coverage, and social marketing. INTEGRATION: Closer collaborations with pharmacologists, clinical pharmacists, other prescribers, and pharmaceutical companies (e.g. through joint training programmes) are desirable. COVERAGE: Attention to neglected areas, such as general practice, paediatrics, obstetrics, geriatrics, anaesthetics, cancer, and immunology. EMISSARIES: Trainees to spread the word. PMID:22360150

  12. Finding a VOICE for UK clinical pharmacology.

    PubMed

    Aronson, Jeffrey K

    2012-06-01

    At a James Black Conference held in Oxford on 20-22 June 2011, a group of senior clinical pharmacologists and their junior colleagues, other medical specialists, and pharmacists discussed an agenda for UK clinical pharmacology for the next 5 years, addressing the following broad questions. How should UK clinical pharmacology be further developed and delivered as a discipline in universities, the NHS, pharmaceutical companies, and regulatory authorities? How should teaching and training in UK clinical pharmacology and therapeutics be delivered and assessed? What topics should be priorities for research in UK academic clinical pharmacology? How should clinical pharmacology contribute to UK drugs policy? How should pharmacology and clinical pharmacology be further integrated, to the benefit of both? Numerous recommendations emerged, under the collective acronym VOICE, standing for Visibility, Outreach, Integration, Coverage and Emissaries. VISIBILITY: The visibility of the discipline needs to be increased. This could be done, for example, by increased activities in acute general medicine/toxicology, through activities of Medicines and Therapeutics Committees, participation in grand rounds, teaching and training, and monitoring therapeutic interventions, and by offering bolt-on training for other specialists (for example, short courses, MSc courses, and training programmes). OUTREACH: Methods of increasing outreach include roadshows in schools/medical schools, national special study modules, public education, press coverage, and social marketing. INTEGRATION: Closer collaborations with pharmacologists, clinical pharmacists, other prescribers, and pharmaceutical companies (e.g. through joint training programmes) are desirable. COVERAGE: Attention to neglected areas, such as general practice, paediatrics, obstetrics, geriatrics, anaesthetics, cancer, and immunology. EMISSARIES: Trainees to spread the word.

  13. Clinical and molecular findings in IPEX syndrome

    PubMed Central

    Myers, A K; Perroni, L; Costigan, C; Reardon, W

    2006-01-01

    IPEX (immunodysregulation, polyendocrinopathy, enteropathy, X linked syndrome) is a rare disorder which usually results in death in early infancy or childhood. Clinical awareness remains the cornerstone of diagnosis, and provided that the diagnosis is entertained, mutation analysis for FOXP3 gene mutations can be confirmatory. Two new patients in whom IPEX was diagnosed retrospectively are reported. PMID:16371377

  14. Pseudotrisomy 13: clinical findings and genetic implications.

    PubMed

    Schulz, Solveig; Gerloff, Claudia; Kalinski, Thomas; Mawrin, Christian; Kanakis, Dimitrios; Haas, Dorothea; Hahn, Heidi; Wieacker, Peter

    2005-01-01

    The combination of holoprosencephaly, postaxial polydactyly, and normal karyotype has been termed pseudotrisomy 13 syndrome. Here, we report the prenatal diagnosis of pseudotrisomy 13 in three siblings suggesting autosomal recessive inheritance of this syndrome. Clinical overlap with hydrolethalus syndrome, Smith-Lemli-Opitz syndrome, Meckel syndrome, and Pallister-Hall syndrome is discussed.

  15. Using Classic and Contemporary Visual Images in Clinical Teaching.

    ERIC Educational Resources Information Center

    Edwards, Janine C.

    1990-01-01

    The patient's body is an image that medical students and residents use to process information. The classic use of images using the patient is qualitative and personal. The contemporary use of images is quantitative and impersonal. The contemporary use of imaging includes radiographic, nuclear, scintigraphic, and nuclear magnetic resonance…

  16. Prenatal Antidepressant Exposure: Clinical and Preclinical Findings

    PubMed Central

    Bourke, Chase H.; Stowe, Zachary N.

    2014-01-01

    Pharmacological treatment of any maternal illness during pregnancy warrants consideration of the consequences of the illness and/or medication for both the mother and unborn child. In the case of major depressive disorder, which affects up to 10–20% of pregnant women, the deleterious effects of untreated depression on the offspring can be profound and long lasting. Progress has been made in our understanding of the mechanism(s) of action of antidepressants, fetal exposure to these medications, and serotonin’s role in development. New technologies and careful study designs have enabled the accurate sampling of maternal serum, breast milk, umbilical cord serum, and infant serum psychotropic medication concentrations to characterize the magnitude of placental transfer and exposure through human breast milk. Despite this progress, the extant clinical literature is largely composed of case series, population-based patient registry data that are reliant on nonobjective means and retrospective recall to determine both medication and maternal depression exposure, and limited inclusion of suitable control groups for maternal depression. Conclusions drawn from such studies often fail to incorporate embryology/neurotransmitter ontogeny, appropriate gestational windows, or a critical discussion of statistically versus clinically significant. Similarly, preclinical studies have predominantly relied on dosing models, leading to exposures that may not be clinically relevant. The elucidation of a defined teratological effect or mechanism, if any, has yet to be conclusively demonstrated. The extant literature indicates that, in many cases, the benefits of antidepressant use during pregnancy for a depressed pregnant woman may outweigh potential risks. PMID:24567054

  17. Clinical studies of styrene workers: initial findings.

    PubMed Central

    Lorimer, W V; Lilis, R; Nicholson, W J; Anderson, H; Fischbein, A; Daum, S; Rom, W; Rice, C; Selikoff, I J

    1976-01-01

    Styrene monomer is a high volume chemical used chiefly in production of polystyrene. A clinical survey of 493 production workers was undertaken at the oldest and largest monomer production, polymerization, and extrusion facility in the U.S. Relative exposure durations and levels were obtained from occupational histories. Significant differences between the high and low exposure groups were found with regard to history of acute prenarcotic symptoms, acute lower respiratory symptoms, prevalence of FEV 1/FV less than 75 per cent, and elevated GCTP. Other liver function tests, chest x-ray, FVC less than 80 per cent, and hematological parameters showed no distinct pattern. A concomitant mortality study has been mounted and is in progress. PMID:1026403

  18. Clinical and electrodiagnostic findings in cyhalothrine poisoning

    PubMed Central

    Basiri, Keivan; Mohaghegh, Mohammad Reza; Teimouri, Somayyeh Sadat; Okhovat, Ali Asghar

    2016-01-01

    Acute onset bulbar symptoms with respiratory failure and descending paralysis may occur in several neuromuscular disorders including variants of Guillain-Barre syndrome (GBS), diphtheria, botulism and toxins. We present a 51-year-old man who presented with complains of ptosis and dyspnea following pyrethroids spraying in an enclosed area for eradication of flea. Within 5-6 days of admission limb weakness, dysphagia, dysarthria, blurred vision, diplopia, tremor and respiratory distress added to previous symptoms. Temporal profile of events after exposure, development of similar symptoms in patient's son, electrodiagnostic findings and exclusion of other etiologies confirms intoxication etiology. We reviewed the literature and provide an extensive electrodiagnostic overview. PMID:27099845

  19. Clinical and electrodiagnostic findings in cyhalothrine poisoning.

    PubMed

    Basiri, Keivan; Mohaghegh, Mohammad Reza; Teimouri, Somayyeh Sadat; Okhovat, Ali Asghar

    2016-01-01

    Acute onset bulbar symptoms with respiratory failure and descending paralysis may occur in several neuromuscular disorders including variants of Guillain-Barre syndrome (GBS), diphtheria, botulism and toxins. We present a 51-year-old man who presented with complains of ptosis and dyspnea following pyrethroids spraying in an enclosed area for eradication of flea. Within 5-6 days of admission limb weakness, dysphagia, dysarthria, blurred vision, diplopia, tremor and respiratory distress added to previous symptoms. Temporal profile of events after exposure, development of similar symptoms in patient's son, electrodiagnostic findings and exclusion of other etiologies confirms intoxication etiology. We reviewed the literature and provide an extensive electrodiagnostic overview. PMID:27099845

  20. Findings from the Clinical Information Systems Perspective

    PubMed Central

    2015-01-01

    Summary Objective To summarize recent research and to propose a selection of best papers published in 2014 in the field of Clinical Information Systems (CIS). Method A query with search terms from the Medical Subject Headings (MeSH) catalog as well as additional free text search terms was designed to identify relevant publications in the field of clinical information systems from PubMed and Web of Science®. The retrieved articles were then categorized in a multi-pass review carried out separately by the section editors. The final selection of 15 candidate papers was then peer-reviewed by Yearbook editors and external reviewers. Based on the review results the four best papers were then selected at the best papers selection meeting with the IMIA Yearbook editorial board. Results The query was carried out in mid-January 2015, yielding a combined result set of 1525 articles which were published in 722 different journals. Among these articles two main thematic sections were identified: i) Interoperability from a syntactical and semantic point of view as well as from a long-term preservation and organizational/legal point of view and ii) secondary use of existing health data in all its shades. Here, patient safety was a major scope of application. Conclusions CIS have become mature over the last years. The focus has now moved beyond data acquisition for just supporting the local care workflows. Actual research efforts in the CIS domain comprise the breakdown of information silos, the reduction of barriers between different systems of different care providers and secondary use of accumulated health data for multiple purposes. PMID:26293854

  1. Cobalamin Deficiency: Clinical Picture and Radiological Findings

    PubMed Central

    Briani, Chiara; Dalla Torre, Chiara; Citton, Valentina; Manara, Renzo; Pompanin, Sara; Binotto, Gianni; Adami, Fausto

    2013-01-01

    Vitamin B12 deficiency causes a wide range of hematological, gastrointestinal, psychiatric and neurological disorders. Hematological presentation of cobalamin deficiency ranges from the incidental increase of mean corpuscular volume and neutrophil hypersegmentation to symptoms due to severe anemia, such as angor, dyspnea on exertion, fatigue or symptoms related to congestive heart failure, such as ankle edema, orthopnea and nocturia. Neuropsychiatric symptoms may precede hematologic signs and are represented by myelopathy, neuropathy, dementia and, less often, optic nerve atrophy. The spinal cord manifestation, subacute combined degeneration (SCD), is characterized by symmetric dysesthesia, disturbance of position sense and spastic paraparesis or tetraparesis. The most consistent MRI finding is a symmetrical abnormally increased T2 signal intensity confined to posterior or posterior and lateral columns in the cervical and thoracic spinal cord. Isolated peripheral neuropathy is less frequent, but likely overlooked. Vitamin B12 deficiency has been correlated negatively with cognitive functioning in healthy elderly subjects. Symptoms include slow mentation, memory impairment, attention deficits and dementia. Optic neuropathy occurs occasionally in adult patient. It is characterized by symmetric, painless and progressive visual loss. Parenteral replacement therapy should be started soon after the vitamin deficiency has been established. PMID:24248213

  2. Cobalamin deficiency: clinical picture and radiological findings.

    PubMed

    Briani, Chiara; Dalla Torre, Chiara; Citton, Valentina; Manara, Renzo; Pompanin, Sara; Binotto, Gianni; Adami, Fausto

    2013-11-15

    Vitamin B12 deficiency causes a wide range of hematological, gastrointestinal, psychiatric and neurological disorders. Hematological presentation of cobalamin deficiency ranges from the incidental increase of mean corpuscular volume and neutrophil hypersegmentation to symptoms due to severe anemia, such as angor, dyspnea on exertion, fatigue or symptoms related to congestive heart failure, such as ankle edema, orthopnea and nocturia. Neuropsychiatric symptoms may precede hematologic signs and are represented by myelopathy, neuropathy, dementia and, less often, optic nerve atrophy. The spinal cord manifestation, subacute combined degeneration (SCD), is characterized by symmetric dysesthesia, disturbance of position sense and spastic paraparesis or tetraparesis. The most consistent MRI finding is a symmetrical abnormally increased T2 signal intensity confined to posterior or posterior and lateral columns in the cervical and thoracic spinal cord. Isolated peripheral neuropathy is less frequent, but likely overlooked. Vitamin B12 deficiency has been correlated negatively with cognitive functioning in healthy elderly subjects. Symptoms include slow mentation, memory impairment, attention deficits and dementia. Optic neuropathy occurs occasionally in adult patient. It is characterized by symmetric, painless and progressive visual loss. Parenteral replacement therapy should be started soon after the vitamin deficiency has been established.

  3. Finds in Belize document Late Classic Maya salt making and canoe transport

    PubMed Central

    McKillop, Heather

    2005-01-01

    How did people in preIndustrial ancient civilizations produce and distribute bulk items, such as salt, needed for everyday use by their large urban populations? This report focuses on the ancient Maya who obtained quantities of salt at cities in the interior of the Yucatan peninsula of Mexico, Belize, and Guatemala in an area where salt is scarce. I report the discovery of 41 Late Classic Maya saltworks (anno Domini 600–900) in Punta Ycacos Lagoon on the south coast of Belize, including one with the first-known ancient Maya canoe paddle. The discoveries add important empirical information for evaluating the extent of surplus salt production and river transport during the height of Late Classic civilization in the southern Maya lowlands. The discovery of the saltworks indicates that there was extensive production and distribution of goods and resources outside the cities in the interior of the Yucatan. The discovery of a wooden canoe paddle from one of the Punta Ycacos saltworks, Ka'k' Naab', ties the production of salt to its inland transport by rivers and documents the importance of canoe trade between the coast and the interior during the Late Classic. Archaeological discovery of multiple saltworks on the Belizean coast represents surplus production of salt destined largely for the inland Peten Maya during their Late Classic peak, underscoring the importance of non-state-controlled workshop production in preIndustrial societies. PMID:15809426

  4. Hemiplegic cerebral palsy: correlation between CT morphology and clinical findings.

    PubMed

    Wiklund, L M; Uvebrant, P

    1991-06-01

    Morphological findings on CT were compared with clinical features of 111 children with hemiplegic cerebral palsy. Periventricular atrophy, interpreted as periventricular leukomalacia, was the most prevalent CT finding, although this type of lesion did not indicate severity of neurological impairment. Maldevelopments were associated with arm-dominated hemiplegia and with a wider range of clinical impairments than previously described. Cortical/subcortical atrophy, less common than presumed, indicated arm-dominated hemiplegia and was associated with more severe impairment than were other CT findings. A normal CT scan indicated leg-dominated hemiplegia and mild impairment. The morphological information obtained by CT was found to be useful for predicting clinical outcome, and was considered an important adjunct to clinical history and findings in these children. PMID:1864477

  5. Renal findings in rheumatoid arthritis: clinical aspects of 132 necropsies.

    PubMed

    Boers, M; Croonen, A M; Dijkmans, B A; Breedveld, F C; Eulderink, F; Cats, A; Weening, J J

    1987-09-01

    Renal abnormalities in 132 necropsied patients with rheumatoid arthritis were studied. Clinical findings before death included extra-articular manifestations of the disease (86% of patients), systemic vasculitis (6%), and uraemia (23%). Necropsy findings included nephrosclerosis (90%), systemic vasculitis (14%) with kidney involvement in 8%, amyloidosis (11%), membranous glomerulopathy (8%), and focal glomerular disease (8%). Association with clinical data suggests that both rheumatoid and non-rheumatoid disease may play a part in the cause of these abnormalities. PMID:3675007

  6. Modic changes and their associations with clinical findings

    PubMed Central

    Korsholm, Lars; Bendix, Tom; Sorensen, Joan S.; Leboeuf-Yde, Charlotte

    2006-01-01

    It is believed that disc degeneration (DD) is, in general, only mildly associated with low back pain (LBP). MRI-identified Modic changes (MC), probably a late stage of DD, are relatively strongly associated with LBP but it is not known if people with MC also have a specific clinical profile. The purpose of this study was to investigate if the clinical findings differ in people with Modic changes (MC) as compared to those with only degenerative disc findings or none at all. In a population-based sample of 412 40-year-old Danes, information was collected independently with MRI, questionnaires and clinical examination. Three subgroups of people were created: those with both DD and MC, those with only DD, and those with neither DD nor MC. The clinical pattern was investigated for each subgroup in order to test the assumption that the clinical picture differs in the three groups. It was expected that people with both DD and MC would have a more pronounced clinical profile than those with only DD who, in turn, would differ from those with neither of these two MRI findings. Our findings were generally in concordance with our expectations. MC constitutes the crucial element in the degenerative process around the disc in relation to LBP, history, and clinical findings. People with DD and no MC only vaguely differ from those without. People with LBP and MC may deserve to be diagnosed as having specific LBP. PMID:16896838

  7. Unexpected Findings in Magnetic Resonance Enterography and Their Clinical Significance

    PubMed Central

    Ravindran, Srivathsan; Hancox, Sarah Helen; Barlow, Neil; Dunk, Arthur; Howlett, David

    2016-01-01

    Aims. To identify the prevalence of colonic and extraenteric incidental findings in magnetic resonance enterography (MRE) and their clinical significance. Methods. We retrospectively analysed 470 MRE studies carried out between March 2012 and 2014. Incidental findings were defined as those not expected from or made apparent on the referral. MRE reports were reviewed for colonic and extraenteric findings, subcategorised into “clinically significant” and “insignificant.” Follow-up was identified from the electronic patient record. Results. The majority of MRE requests were made for inflammatory bowel disease (97%). In total, 114 incidental findings were noted in 94 (20%) scans performed. There were 29 “colonic” findings (25%) with 55% having a diagnosis of colitis. Out of 85 extraenteric findings, ovarian cysts (25%), renal cysts (10%), and abdominal lymphadenopathy (9%) were the commonest. Cumulatively, 59 cases were clinically significant (52%); of these, 30 findings were not previously diagnosed, amounting to 26% of all incidental findings. This led to intervention in seven patients. Conclusions. Incidental findings are common in MRE and there is a substantial proportion that is clinically significant and requires further investigation. There need to be stratification of risk and employment of local guidelines in order to achieve this. PMID:27446837

  8. Hypertension Case-Finding in a Rural Family Practice Clinic

    PubMed Central

    Lindberg, Alexandra

    1992-01-01

    The effectiveness of the hypertension case-finding program in place at the Port McNeill medical clinic was evaluated by comparing rates of blood pressure notation and case-finding for hypertension with those of a clinic with purely opportunistic screening. The program was very effective at ensuring a blood pressure reading was noted on all charts and showed an increased rate of hypertension case-finding for young men (aged 18 to 49) and women (aged 18 to 34). PMID:21221256

  9. A comparative clinical study on standardization of Vamana Vidhi by classical and traditional methods

    PubMed Central

    Dass, Ranjip Kumar; Bhatt, Nilesh N.; Thakar, Anup B.; Shukla, Vagish Dutt

    2012-01-01

    Vamana Karma (process of emesis) is considered as Pradhana Karma (prime procedure) meant for inducing therapeutic vomiting, indicated for the purification of Urdhwa Bhaga (upper part) of the body. It is the process by which contents of stomach, including Kapha and Pitta are expelled out of the body through oral route. Acharya Charak and Sushruta have advocated various procedures for Vamana Karma known as classical methods, whereas some traditional methods are also being followed. As very little works has been carried out in the direction of Vamana Karma and as not a single work has been carried out on standardization of Vamana Vidhi comparing to both classical and traditional methods, the present study had been selected. The clinical trial was conducted in a randomized sample of 50 individuals (Both patients and volunteers) resolved into two sub-groups, viz. individuals in Group A was performed Vamana with classical methods and Group B with traditional methods. From the observations and results obtained in the present clinical study, it can be concluded that the method mentioned in classics is very much beneficial from every point of view in comparison to the traditional method. It is very easy, safest, less time-consuming and clinically as well as statistically most effective method without producing any type of complications. PMID:23723669

  10. A comparative clinical study on standardization of Vamana Vidhi by classical and traditional methods.

    PubMed

    Dass, Ranjip Kumar; Bhatt, Nilesh N; Thakar, Anup B; Shukla, Vagish Dutt

    2012-10-01

    Vamana Karma (process of emesis) is considered as Pradhana Karma (prime procedure) meant for inducing therapeutic vomiting, indicated for the purification of Urdhwa Bhaga (upper part) of the body. It is the process by which contents of stomach, including Kapha and Pitta are expelled out of the body through oral route. Acharya Charak and Sushruta have advocated various procedures for Vamana Karma known as classical methods, whereas some traditional methods are also being followed. As very little works has been carried out in the direction of Vamana Karma and as not a single work has been carried out on standardization of Vamana Vidhi comparing to both classical and traditional methods, the present study had been selected. The clinical trial was conducted in a randomized sample of 50 individuals (Both patients and volunteers) resolved into two sub-groups, viz. individuals in Group A was performed Vamana with classical methods and Group B with traditional methods. From the observations and results obtained in the present clinical study, it can be concluded that the method mentioned in classics is very much beneficial from every point of view in comparison to the traditional method. It is very easy, safest, less time-consuming and clinically as well as statistically most effective method without producing any type of complications. PMID:23723669

  11. Prader-Willi Syndrome: Clinical and Genetic Findings

    PubMed Central

    Butler, Merlin G.; Thompson, Travis

    2016-01-01

    Since the initial medical description by Prader, Labhart and Willi in 1956 of individuals with overlapping features, the Prader-Willi syndrome has become recognized as a classical but sporadic genetic syndrome. Prader-Willi syndrome is the most common genetic cause of life-threatening obesity in humans. It is estimated that there are 350,000–400,000 people with this syndrome worldwide. Prader-Willi Syndrome Association USA knows of more than 3,400 persons with Prader-Willi syndrome in the USA out of an approximate 17,000–22,000. Prader-Willi syndrome with an incidence of 1 in 10,000 to 25,000 individuals and Angelman syndrome, an entirely different clinical condition, were the first examples in humans of genetic imprinting. Genetic imprinting or the differential expression of genetic information depending on the parent of origin plays a significant role in other conditions including malignancies. PMID:27570435

  12. Neuronopathic Lysosomal Storage Diseases: Clinical and Pathologic Findings

    ERIC Educational Resources Information Center

    Prada, Carlos E.; Grabowski, Gregory A.

    2013-01-01

    Background: The lysosomal--autophagocytic system diseases (LASDs) affect multiple body systems including the central nervous system (CNS). The progressive CNS pathology has its onset at different ages, leading to neurodegeneration and early death. Methods: Literature review provided insight into the current clinical neurological findings,…

  13. Clinical and Imaging Findings of True Hemifacial Hyperplasia

    PubMed Central

    Bhuta, Bansari A.; Desai, Rajiv S.; Bansal, Shivani P.; Chemburkar, Vipul V.; Dev, Prashant V.

    2013-01-01

    Congenital hemifacial hyperplasia is a rare developmental disorder of unknown etiology, characterized by a marked unilateral facial asymmetry. It involves the hard (bones and teeth) and soft tissues of the face. We report an interesting case of true hemifacial hyperplasia in a 25-year-old male highlighting the clinical and computed tomography imaging findings. PMID:24349801

  14. Cardiomyopathy in Friedreich ataxia: clinical findings and research.

    PubMed

    Payne, R Mark; Wagner, Gregory R

    2012-09-01

    Friedreich ataxia is the most common human ataxia and results from inadequate production of the frataxin protein, most often the result of a triplet expansion in the nuclear FXN gene. The gene cannot be transcribed to generate the messenger ribonucleic acid for frataxin. Frataxin is an iron-binding protein targeted to the mitochondrial matrix. In its absence, multiple iron-sulfur-dependent proteins in mitochondria and the cytosol lack proper assembly, destroying mitochondrial and nuclear function. Mitochondrial oxidant stress may also participate in ongoing cellular injury. Although progressive and debilitative ataxia is the most prominent clinical finding, hypertrophic cardiomyopathy with heart failure is the most common cause of early death in this disease. There is no cure. In this review the authors cover recent basic and clinical findings regarding the heart in Friedreich ataxia, offer recommendations for clinical management of the cardiomyopathy in this disease, and point out new research directions to advance the field.

  15. Clinical Needs Finding: Developing the Virtual Experience, A Case Study

    PubMed Central

    Mittal, Vaishali; Thompson, Megan; Altman, Stuart M; Taylor, Peter; Summers, Alexander; Goodwin, Kelsey; Louie, Angelique Y

    2013-01-01

    We describe an innovative program at the University of California, Davis for students to engage in clinical needs finding. Using a team-based approach, students participated in clinical rotations to observe firsthand the needs of clinicians at the university affiliated medical center. The teams were asked to develop documentary-style videos to capture key experiences that would allow future viewers to use the videos as “virtual” clinical rotations. This was conceived as a strategy to allow students in prohibitively large classes, or students in programs at institutions without associated medical or veterinary school programs, to experience clinical rotations and perform needs assessments. The students' perspectives on the experience as well as instructor analysis of best practices for this type of activity are presented and discussed. We found that the internship experience was valuable to the students participating, by not only introducing the practice of needs finding but for increasing the students' confidence in the practice of engineering design and their ability to work independently. The videos produced were of such high quality that instructors from other institutions have requested copies for instructional use. Virtual clinical rotations through video experiences may provide a reasonable substitute for students who do not have the ability to participate in rotations in person. PMID:23483373

  16. Magnetic Resonance Neurographic Findings in Classic Idiopathic Neuralgic Amyotrophy in Subacute Stage: A Report of Four Cases

    PubMed Central

    Park, Myung Seok; Kim, Du Hwan

    2014-01-01

    Neuralgic amyotrophy (NA) is characterized by acute onset of severe pain, followed by muscular weakness and wasting of the shoulder girdle. While the diagnosis of NA mainly relies on the clinical history and examination, some investigations including electrophysiologic study and radiologic study may help to confirm the diagnosis. Magnetic resonance neurography (MRN), a new technique for the evaluation of peripheral nerve disorders, can be helpful in the diagnosis of NA. MRN presents additional benefits in comparison to conventional magnetic resonance imaging in the diagnosis of idiopathic NA (INA). In this report, we present the first four cases of classic INA diagnosed with MRN in subacute stage. MRN imaging modality should be considered in patients clinically suspected of INA. PMID:24855627

  17. Clinical, CSF, and MRI findings in Devic's neuromyelitis optica.

    PubMed Central

    O'Riordan, J I; Gallagher, H L; Thompson, A J; Howard, R S; Kingsley, D P; Thompson, E J; McDonald, W I; Miller, D H

    1996-01-01

    OBJECTIVES: Since Devic's original description of neuromyelitis optica in 1894 there has been much debate regarding its aetiology. A specific cause has been identified in a minority of cases but in most the question has arisen whether or not Devic's neuromyelitis optica is a variant of multiple sclerosis. This study was undertaken to help clarify this issue. METHODS: Neuromyelitis optica was defined as (1) a severe transverse myelitis; (2) an acute unilateral or bilateral optic neuropathy; (3) no clinical involvement beyond the spinal cord or optic nerves, and (4) a monophasic or multiphasic illness. The clinical and autoantibody status was documented. Patients underwent CSF examination and MRI of brain and spinal cord. RESULTS: Twelve patients, with a mean age of presentation of 35.1 years, were seen. Eleven were women; vision was reduced to counting fingers or worse in 10 patients and seven became confined to a wheelchair. Examination of CSF showed local synthesis of oligoclonal bands in only two patients and a neutrophil pleocytosis in two. A possible aetiology was identified in five: a specific connective tissue disorder (two), pulmonary tuberculosis (one), and possible acute disseminated encephalomyelitis (two). Six had non-specific increases in various autoantibodies. Eleven patients underwent MRI of the brain and spinal cord. In 10 there were diffuse abnormalities involving cervical and thoracic cords with extensive swelling in the acute phase. Brain MRI was normal in five; in five there were multiple deep white matter lesions, and one patient had minor age related changes. CONCLUSION: It is proposed that Devic's neuromyelitis optica is a distinctive disorder with some clinical, CSF, and MRI features different from those found in classic multiple sclerosis. In most cases a specific aetiology is not identified, but an immunological mechanism of tissue damage seems likely. Images PMID:8774400

  18. Acute tramadol poisoning and its clinical and laboratory findings

    PubMed Central

    Rahimi, Hamid Reza; Soltaninejad, Kambiz; Shadnia, Shahin

    2014-01-01

    Background: Tramadol is a centrally acting analgesic with opioid and nonopioid properties, which extensively used in the relief of mild to moderate pain. Tramadol poisoning is a common cause of acute pharmaceutical poisoning in Iran. There are a few studies about clinical and laboratory findings related to acute tramadol poisoning. Therefore, the aim of this study was to demonstrate the clinical and laboratory findings in tramadol acute poisoning cases. Materials and Methods: This was a retrospective descriptive study of patients with acute tramadol poisoning who referred to Loghman Hakim Hospital Poison Center during January to April 2012. Data such as patient's age, sex, time of ingestion, ingested dose, cause of poisoning, mean duration of hospitalization, patient's clinical presentations, laboratory findings, therapeutic measures, and patient's outcome have collected in a predesigned checklist. Results: A total of 144 patients including 111 men (77%) and 33 women (23%) with acute tramadol poisoning was included in this study. The mean ingested dose was 1971.2 mg (100-20000 mg). Seizure (47.91%) was the most frequent clinical symptom. Blood gas on admission showed pH (7.3 ± 0.1), PCO2 (49.7 ± 8.6 mmHg) and HCO3− (24.1 ± 3.8 mEq/L), indicating pure acute respiratory acidosis may be occurred in tramadol-intoxicated patients. There were significant differences between tramadol-intoxicated cases with and without a seizure with regard to the time interval between ingestion and admission on hospital, ingested dose and PCO2. Conclusion: Seizure and rise of PCO2 were the most findings in this study. PMID:25535500

  19. Clinical Correlation between Perverted Nystagmus and Brain MRI Abnormal Findings

    PubMed Central

    Han, Won-Gue; Yoon, Hee-Chul; Kim, Tae-Min; Rah, Yoon Chan

    2016-01-01

    Background and Objectives To analyze the clinical correlation between perverted nystagmus and brain magnetic resonance imaging (MRI) abnormal findings and to evaluate whether perverted nystagmus is clinically significant results of brain abnormal lesions or not. Subjects and Methods We performed medical charts review from January 2008 to July 2014, retrospectively. Patients who were suspected central originated vertigo at Frenzel goggles test were included among patients who visited our hospital. To investigate the correlation with nystagmus suspected central originated vertigo and brain MRI abnormal findings, we confirmed whether performing brain MRI or not. Then we exclude that patients not performed brain MRI. Results The number of patients with perverted nystagmus was 15, upbeating was 1 and down-beating was 14. Among these patients, 5 patients have brain MRI abnormal findings. However, 2 patients with MRI abnormal findings were not associated correctly with perverted nystagmus and only 3 patients with perverted nystagmus were considered central originated vertigo and further evaluation and treatment was performed by the department of neurology. Conclusions Perverted nystagmus was considered to the abnormalities at brain lesions, especially cerebellum, but neurologic symptoms and further evaluation were needed for exact diagnosis of central originated vertigo.

  20. Clinical Correlation between Perverted Nystagmus and Brain MRI Abnormal Findings

    PubMed Central

    Han, Won-Gue; Yoon, Hee-Chul; Kim, Tae-Min; Rah, Yoon Chan

    2016-01-01

    Background and Objectives To analyze the clinical correlation between perverted nystagmus and brain magnetic resonance imaging (MRI) abnormal findings and to evaluate whether perverted nystagmus is clinically significant results of brain abnormal lesions or not. Subjects and Methods We performed medical charts review from January 2008 to July 2014, retrospectively. Patients who were suspected central originated vertigo at Frenzel goggles test were included among patients who visited our hospital. To investigate the correlation with nystagmus suspected central originated vertigo and brain MRI abnormal findings, we confirmed whether performing brain MRI or not. Then we exclude that patients not performed brain MRI. Results The number of patients with perverted nystagmus was 15, upbeating was 1 and down-beating was 14. Among these patients, 5 patients have brain MRI abnormal findings. However, 2 patients with MRI abnormal findings were not associated correctly with perverted nystagmus and only 3 patients with perverted nystagmus were considered central originated vertigo and further evaluation and treatment was performed by the department of neurology. Conclusions Perverted nystagmus was considered to the abnormalities at brain lesions, especially cerebellum, but neurologic symptoms and further evaluation were needed for exact diagnosis of central originated vertigo. PMID:27626081

  1. Incidental findings from clinical sequencing in Greece: reporting experts' attitudes.

    PubMed

    Gourna, E G; Armstrong, N; Wallace, S E

    2014-10-01

    Unprecedented progress in sequencing technologies and decreasing cost have brought genomic testing into the clinical setting. At the same time, the debate in the literature concerning the return of incidental findings (IFs) has made this an important issue internationally. These developments reflect a shift in genetics that will also affect smaller countries, such as Greece, that are just starting to implement these technologies and may look to other countries for examples of good practice. Ten in-depth interviews were conducted with Greek experts in clinical sequencing. Previous experiences and attitudes toward IFs and clinical sequencing were investigated as well as views on the existing policy regarding managing genetic information generated through testing. . Interviews were analysed using thematic analysis. All participants reported the lack of any legal or other supportive mechanism. IFs are currently managed at a "local" level, i.e. within the clinic or the laboratory in an ad hoc way. All participants thought that clinically valid and actionable IFs should be returned, but always with caution and in respect to patients' wishes, although several experts reported returning IFs according to their clinical discretion. Experts reported that most patients ask for all tests available but they felt that more counselling is needed to understand and manage genetic information. Due to the lack of any supporting mechanisms, professionals in Greece, even those with established experience in the field of genetic and genomic testing, have difficulties dealing with IFs. All experts agreed that it is now time, before the full integration of genomic testing into everyday clinical practice, for guidance to help Greek physicians work with patients and their families when IFs are discovered. PMID:25048384

  2. Word-finding difficulty: a clinical analysis of the progressive aphasias

    PubMed Central

    Rohrer, Jonathan D.; Knight, William D.; Warren, Jane E.; Fox, Nick C.; Rossor, Martin N.; Warren, Jason D.

    2008-01-01

    The patient with word-finding difficulty presents a common and challenging clinical problem. The complaint of ‘word-finding difficulty’ covers a wide range of clinical phenomena and may signify any of a number of distinct pathophysiological processes. Although it occurs in a variety of clinical contexts, word-finding difficulty generally presents a diagnostic conundrum when it occurs as a leading or apparently isolated symptom, most often as the harbinger of degenerative disease: the progressive aphasias. Recent advances in the neurobiology of the focal, language-based dementias have transformed our understanding of these processes and the ways in which they breakdown in different diseases, but translation of this knowledge to the bedside is far from straightforward. Speech and language disturbances in the dementias present unique diagnostic and conceptual problems that are not fully captured by classical models derived from the study of vascular and other acute focal brain lesions. This has led to a reformulation of our understanding of how language is organized in the brain. In this review we seek to provide the clinical neurologist with a practical and theoretical bridge between the patient presenting with word-finding difficulty in the clinic and the evidence of the brain sciences. We delineate key illustrative speech and language syndromes in the degenerative dementias, compare these syndromes with the syndromes of acute brain damage, and indicate how the clinical syndromes relate to emerging neurolinguistic, neuroanatomical and neurobiological insights. We propose a conceptual framework for the analysis of word-finding difficulty, in order both better to define the patient's complaint and its differential diagnosis for the clinician and to identify unresolved issues as a stimulus to future work. PMID:17947337

  3. A Role for Estrogen in Schizophrenia: Clinical and Preclinical Findings

    PubMed Central

    Gogos, Andrea; Sbisa, Alyssa M.; Sun, Jeehae; Gibbons, Andrew; Udawela, Madhara; Dean, Brian

    2015-01-01

    Gender differences in schizophrenia have been extensively researched and it is being increasingly accepted that gonadal steroids are strongly attributed to this phenomenon. Of the various hormones implicated, the estrogen hypothesis has been the most widely researched one and it postulates that estrogen exerts a protective effect by buffering females against the development and severity of the illness. In this review, we comprehensively analyse studies that have investigated the effects of estrogen, in particular 17β-estradiol, in clinical, animal, and molecular research with relevance to schizophrenia. Specifically, we discuss the current evidence on estrogen dysfunction in schizophrenia patients and review the clinical findings on the use of estradiol as an adjunctive treatment in schizophrenia patients. Preclinical research that has used animal models and molecular probes to investigate estradiol's underlying protective mechanisms is also substantially discussed, with particular focus on estradiol's impact on the major neurotransmitter systems implicated in schizophrenia, namely, the dopamine, serotonin, and glutamate systems. PMID:26491441

  4. A Role for Estrogen in Schizophrenia: Clinical and Preclinical Findings.

    PubMed

    Gogos, Andrea; Sbisa, Alyssa M; Sun, Jeehae; Gibbons, Andrew; Udawela, Madhara; Dean, Brian

    2015-01-01

    Gender differences in schizophrenia have been extensively researched and it is being increasingly accepted that gonadal steroids are strongly attributed to this phenomenon. Of the various hormones implicated, the estrogen hypothesis has been the most widely researched one and it postulates that estrogen exerts a protective effect by buffering females against the development and severity of the illness. In this review, we comprehensively analyse studies that have investigated the effects of estrogen, in particular 17β-estradiol, in clinical, animal, and molecular research with relevance to schizophrenia. Specifically, we discuss the current evidence on estrogen dysfunction in schizophrenia patients and review the clinical findings on the use of estradiol as an adjunctive treatment in schizophrenia patients. Preclinical research that has used animal models and molecular probes to investigate estradiol's underlying protective mechanisms is also substantially discussed, with particular focus on estradiol's impact on the major neurotransmitter systems implicated in schizophrenia, namely, the dopamine, serotonin, and glutamate systems. PMID:26491441

  5. Efficacy and Safety of Saffron Supplementation: Current Clinical Findings.

    PubMed

    Broadhead, G K; Chang, A; Grigg, J; McCluskey, P

    2016-12-01

    Saffron (Crocus savitus) is a Middle-Eastern herb with strong antioxidant properties. Its major constituents, safranal, crocin, and crocetin, are also antioxidants and bear structural similarities to other well-known natural antixodant substances, such as zeaxanthin. Given the role of oxidative stress in many diseases, considerable interest has been shown into the potential role of saffron supplementation as a treatment for a range of diseases. In vitro and animal studies have provided evidence that saffron and its constituents may be potent therapies for a range of pathologies, including Alzheimer's disease, age-related macular degeneration (AMD) and cardiac ischemia. Whether these findings translate into clinical efficacy, however, has as of yet been incompletely assessed. This makes assessing the role of saffron supplementation in these diseases difficult. Here, we review the current human clinical evidence supporting saffron supplementation as a treatment for a range of pathologies and the underlying science supporting its use.

  6. [Clinical and endocrinological findings of bitches with ovarian cyst syndrome].

    PubMed

    Bostedt, H; Jung, C; Wehrend, A; Boryzcko, Z

    2013-10-01

    Aim of this study was to record the clinical findings in bitches with ovarian cyst syndrome (OCS) and to interpret them in connection with the endocrine status in peripheral blood and in cyst liquid. For our investigation 16 bitches of different breeds with an average age of 9.7 years were used. They have been presented to the clinic due to different gynecological symptoms. The leading symptom was in 87.5 % of the cases a chronic vaginal secretion. In addition to a detailed anamnesis a clinical examination was performed including vaginalcytologic, sonographic, hematologic and hormonal findings (progesterone P4, 17β estradiol E2). As basic diagnoses could be made: Cycle aberrations (n = 8), pyometra endometritis complex (n = 4), vaginal tumor (n = 4). In addition 3 patients were presented with alopecia. All patients were ovariohysterectomized without prior conservative treatment and the ovaries histologically examined and classified. Based on sonographic findings before and macroscopic evaluation the ovaries after surgery, the OCS could be divided into an oligocystic and polycystic syndrome. There were predominating (94 %) follicle theca cysts. The formation of cysts on the ovary was in the vast majority (66.7 %) combined with corpora lutea. The endometrium showed mainly (50 %) a glandular cystic hyperplasia (CHE) and the hematologic examination revealed in 31.2 % of the patients a combination of advanced erythropenia and thrombocytopenia. Generally there was no direct relationship between increased P4 and E2 values in the pooled cyst fluid and in the peripheral blood when the oestrous phase was considered. Based on present data the diagnosis of OCS of the bitch by means of peripheral P4 and E2 values is not possible. PMID:24091229

  7. [Clinical findings, pathogenesis and treatment of Bartter's syndrome (author's transl)].

    PubMed

    Ploier, R; Tulzer, W

    1981-01-01

    In three children Bartter's syndrome was diagnosed on the basis of the typical laboratory findings and the characteristic histological changes of the kidney. Apart from the description of three cases especially the latest pathogenic findings are represented because of their important therapeutic consequences. In one of the patients the therapeutic effect of the prostaglandin synthetase inhibitor Indomethazin was statistically proved in a balance study performed under inpatient conditions and so it was indirectly proved that the prostaglandines play an essential role in the pathogenesis of Bartter's syndrome. The patients have now received Indomethazin for a period of 11 months up to two and a half years with the result of an impressive improvement of the clinical symptoms and an unequivocal increase of the serum potassium. The fact that despite of normal renin and aldosterone levels there was no complete normalization of the serum potassium level indicates that in addition of prostaglandines probably a superior mechanism plays a part in the origin Bartter's syndrome.

  8. Clinical correlates of graph theory findings in temporal lobe epilepsy

    PubMed Central

    Haneef, Zulfi; Chiang, Sharon

    2014-01-01

    Purpose Temporal lobe epilepsy (TLE) is considered a brain network disorder, additionally representing the most common form of pharmaco-resistant epilepsy in adults. There is increasing evidence that seizures in TLE arise from abnormal epileptogenic networks, which extend beyond the clinico-radiologically determined epileptogenic zone and may contribute to the failure rate of 30–50% following epilepsy surgery. Graph theory allows for a network-based representation of TLE brain networks using several neuroimaging and electrophysiologic modalities, and has potential to provide clinicians with clinically useful biomarkers for diagnostic and prognostic purposes. Methods We performed a review of the current state of graph theory findings in TLE as they pertain to localization of the epileptogenic zone, prediction of pre- and post-surgical seizure frequency and cognitive performance, and monitoring cognitive decline in TLE. Results Although different neuroimaging and electrophysiologic modalities have yielded occasionally conflicting results, several potential biomarkers have been characterized for identifying the epileptogenic zone, pre-/post-surgical seizure prediction, and assessing cognitive performance. For localization, graph theory measures of centrality have shown the most potential, including betweenness centrality, outdegree, and graph index complexity, whereas for prediction of seizure frequency, measures of synchronizability have shown the most potential. The utility of clustering coefficient and characteristic path length for assessing cognitive performance in TLE is also discussed. Conclusions Future studies integrating data from multiple modalities and testing predictive models are needed to clarify findings and develop graph theory for its clinical utility. PMID:25127370

  9. Clinical findings and treatment in cattle with caecal dilatation

    PubMed Central

    2012-01-01

    Background This retrospective study describes the clinical and laboratory findings, treatment and outcome of 461 cattle with caecal dilatation. Results The general condition and demeanor were abnormal in 93.1% of cases, and 32.1% of the patients had colic. Ruminal motility was reduced or absent in 78.3% of cattle. In 82.6% of cases, swinging and/or percussion auscultation were positive on the right side, and 82.4% had little or no faeces in the rectum. Caecal dilatation could be diagnosed via rectal palpation in 405 (88.0%) cattle. There was caudal displacement of the dilated caecum in 291 patients, torsion around the longitudinal axis in 20 and retroflexion in 94. The most important laboratory finding was hypocalcaemia, which occurred in 85.1% of cases. Of the 461 cattle, 122 (26.5%) initially received conservative therapy (intravenous fluids, neostigmine, calcium borogluconate) and 329 (71.4%) underwent surgical treatment. Ten patients were slaughtered or euthanased after the initial physical examination. Of the 122 cattle that received conservative treatment, 42 did not respond after one to two days of therapy and required surgical treatment. The final number of cattle that were operated was 371 (80.5%). Because of a grave prognosis, 24 cases were euthanased or slaughtered intraoperatively. Another 24 cattle did not respond to one or more operations and were euthanased or slaughtered. Of the 461 patients, 403 (87.4%) responded to either conservative or surgical treatment and were cured, and 58 were euthanased or slaughtered. Conclusions Caecal dilatation can usually be diagnosed based on clinical findings and treated conservatively or surgically. Swinging and percussion auscultation as well as rectal examination are important diagnostic tools. Conservative treatment is not rewarding in cattle considered surgical candidates with suspected caecal torsion or retroflexion and surgery should not be delayed in these patients. PMID:22656369

  10. Clinical findings in unilateral acute idiopathic maculopathy: new findings in acute idiopathic maculopathy.

    PubMed

    Haruta, Hiroshi; Sawa, Miki; Saishin, Yoshitsugu; Ohguro, Nobuyuki; Tano, Yasuo

    2010-04-01

    We report a case of unilateral acute idiopathic maculopathy (UAIM) with new clinical findings. A 34-year-old Japanese man had a neurosensory retinal detachment (approximately 5 disk diameters) with yellowish-white exudates at the macula in the left eye (visual acuity (VA) 0.4). Fluorescein angiography (FA) showed early hypofluorescent spots and late pooling in the subretinal space. Three weeks after onset, indocyanine green angiography (IA) showed numerous hypofluorescent spots at the lesion. Optical coherence tomography (OCT) showed subretinal fluids and an elevated choroidal lesion with low reflectivity, suggesting choroidal edema. The VA and fundus appearance spontaneously resolved without treatment three months after onset. The VA was 1.0 six months after onset. Irregular pigmentation remained at the macular lesion. The main UAIM pathology may be outer retinal layer and retinal pigment epithelial inflammation. FA, IA, and OCT suggested that choroidal inflammation may be involved in the pathogenesis of UAIM.

  11. [Auditory synaptopathy/neuropathy: clinical findings and diagnosis].

    PubMed

    Walger, M; Foerst, A; Beutner, D; Streicher, B; Stürmer, K; Lang-Roth, R

    2011-05-01

    Auditory synaptopathy/neuropathy (AS/AN) is a special subtype of sensorineural hearing disorders with heterogeneous phenotypes and underestimated incidence. AS/AN generally develops in infancy, occasionally in adulthood. Symptoms include fluctuating, mostly bilateral hearing loss and abnormally reduced speech comprehension, especially in noisy environments. Within audiological assessments, patients with AS/AN present otoacoustic emissions (TEOAE; DPOAE) and cochlear microphonics (CM), absence of stapedius reflexes (SR) as well as absent or pathologically altered auditory evoked brainstem potentials (ABR). Children with AS/AN cannot be identified within OAE-based newborn hearing screening programs. Clinical findings, transtympanic electrocochleography (ECoG) and further diagnostic tools permit further identification of individual characteristics. In individual cases conventional amplification and the use of FM systems may improve hearing and communication skills. If these interventions, accompanied by intensive hearing, speech and language therapy are unsuccessful, cochlear implants (CI) or alternative forms of communication may be useful options for rehabilitation. PMID:21505928

  12. Virus load in pigs affected with different clinical forms of classical swine fever.

    PubMed

    Rout, M; Saikumar, G

    2012-04-01

    Classical swine fever (CSF) is an endemic disease in India, but the real magnitude of the problem is not known as only outbreaks of acute CSF are reported and many cases of chronic and clinically inapparent forms of the disease, which manifest a confusing clinical picture, remain undiagnosed. The real status of classical swine fever virus (CSFV) infection can only be known by testing pigs with highly specific and sensitive diagnostic assays. To obtain the baseline prevalence of CSFV infection among pigs in an endemic region where no vaccination was being performed, a real-time PCR assay was used to detect viral genetic material in tissue samples collected from a slaughterhouse in the northern state of Uttar Pradesh in India. In total, 1120 slaughtered pigs were examined for the presence of CSF suggestive pathological lesions and tissues from suspected cases were tested for the presence of CSFV antigen and nucleic acids by indirect immuno-peroxidase test and real-time PCR, respectively. Based on the detection of viral genetic material in the tonsils, the prevalence of CSFV infection among slaughtered pigs was found to be 7.67%. Pigs detected positive for viral genome by quantitative real-time PCR assay when categorized into different forms of CSF, depending upon the pathological lesions observed, the viral load in the tonsils of some of the pigs with chronic or clinically inapparent form of the disease was similar to that detected in pigs with acute CSF. The results of the study suggested that the risk posed by pigs with chronic disease or those infected but showing no clinical disease may be relatively higher as they can transmit the virus to new susceptible hosts over a longer period of time.

  13. Novel Findings into AIRE Genetics and Functioning: Clinical Implications

    PubMed Central

    De Martino, Lucia; Capalbo, Donatella; Improda, Nicola; Lorello, Paola; Ungaro, Carla; Di Mase, Raffaella; Cirillo, Emilia; Pignata, Claudio; Salerno, Mariacarolina

    2016-01-01

    Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED), formerly known as autoimmune polyendocrine syndrome type 1, is a paradigm of a monogenic autoimmune disease caused by mutations of a gene, named autoimmune regulator (AIRE). AIRE acts as a transcription regulator that promotes immunological central tolerance by inducing the ectopic thymic expression of many tissue-specific antigens. Although the syndrome is a monogenic disease, it is characterized by a wide variability of the clinical expression with no significant correlation between genotype and phenotype. Indeed, many aspects regarding the exact role of AIRE and APECED pathogenesis still remain unraveled. In the last decades, several studies in APECED and in its mouse experimental counterpart have revealed new insights on how immune system learns self-tolerance. Moreover, novel interesting findings have extended our understanding of AIRE’s function and regulation thus improving our knowledge on the pathogenesis of APECED. In this review, we will summarize recent novelties on molecular mechanisms underlying the development of APECED and their clinical implications.

  14. Novel Findings into AIRE Genetics and Functioning: Clinical Implications.

    PubMed

    De Martino, Lucia; Capalbo, Donatella; Improda, Nicola; Lorello, Paola; Ungaro, Carla; Di Mase, Raffaella; Cirillo, Emilia; Pignata, Claudio; Salerno, Mariacarolina

    2016-01-01

    Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED), formerly known as autoimmune polyendocrine syndrome type 1, is a paradigm of a monogenic autoimmune disease caused by mutations of a gene, named autoimmune regulator (AIRE). AIRE acts as a transcription regulator that promotes immunological central tolerance by inducing the ectopic thymic expression of many tissue-specific antigens. Although the syndrome is a monogenic disease, it is characterized by a wide variability of the clinical expression with no significant correlation between genotype and phenotype. Indeed, many aspects regarding the exact role of AIRE and APECED pathogenesis still remain unraveled. In the last decades, several studies in APECED and in its mouse experimental counterpart have revealed new insights on how immune system learns self-tolerance. Moreover, novel interesting findings have extended our understanding of AIRE's function and regulation thus improving our knowledge on the pathogenesis of APECED. In this review, we will summarize recent novelties on molecular mechanisms underlying the development of APECED and their clinical implications. PMID:27597936

  15. Novel Findings into AIRE Genetics and Functioning: Clinical Implications.

    PubMed

    De Martino, Lucia; Capalbo, Donatella; Improda, Nicola; Lorello, Paola; Ungaro, Carla; Di Mase, Raffaella; Cirillo, Emilia; Pignata, Claudio; Salerno, Mariacarolina

    2016-01-01

    Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED), formerly known as autoimmune polyendocrine syndrome type 1, is a paradigm of a monogenic autoimmune disease caused by mutations of a gene, named autoimmune regulator (AIRE). AIRE acts as a transcription regulator that promotes immunological central tolerance by inducing the ectopic thymic expression of many tissue-specific antigens. Although the syndrome is a monogenic disease, it is characterized by a wide variability of the clinical expression with no significant correlation between genotype and phenotype. Indeed, many aspects regarding the exact role of AIRE and APECED pathogenesis still remain unraveled. In the last decades, several studies in APECED and in its mouse experimental counterpart have revealed new insights on how immune system learns self-tolerance. Moreover, novel interesting findings have extended our understanding of AIRE's function and regulation thus improving our knowledge on the pathogenesis of APECED. In this review, we will summarize recent novelties on molecular mechanisms underlying the development of APECED and their clinical implications.

  16. Novel Findings into AIRE Genetics and Functioning: Clinical Implications

    PubMed Central

    De Martino, Lucia; Capalbo, Donatella; Improda, Nicola; Lorello, Paola; Ungaro, Carla; Di Mase, Raffaella; Cirillo, Emilia; Pignata, Claudio; Salerno, Mariacarolina

    2016-01-01

    Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED), formerly known as autoimmune polyendocrine syndrome type 1, is a paradigm of a monogenic autoimmune disease caused by mutations of a gene, named autoimmune regulator (AIRE). AIRE acts as a transcription regulator that promotes immunological central tolerance by inducing the ectopic thymic expression of many tissue-specific antigens. Although the syndrome is a monogenic disease, it is characterized by a wide variability of the clinical expression with no significant correlation between genotype and phenotype. Indeed, many aspects regarding the exact role of AIRE and APECED pathogenesis still remain unraveled. In the last decades, several studies in APECED and in its mouse experimental counterpart have revealed new insights on how immune system learns self-tolerance. Moreover, novel interesting findings have extended our understanding of AIRE’s function and regulation thus improving our knowledge on the pathogenesis of APECED. In this review, we will summarize recent novelties on molecular mechanisms underlying the development of APECED and their clinical implications. PMID:27597936

  17. Clinical findings in obligate carriers of type I Usher syndrome

    SciTech Connect

    Wagenaar, M.; Rahe, B. ter; Aarem, A. van; Huygen, P.; Admiraal, R.

    1995-11-20

    Seventeen obligate carriers from nine families with autosomal recessive Usher syndrome type I underwent otological, audiological, vestibular, and ophthalmological examination in order to identify possible manifestations of heterozygosity. Linkage studies were performed and six families showed linkage to chromosome region 11q13.5 while 3 families have so far failed to show linkage to the candidate regions. Eight obligate carriers had an abnormal puretone audiogram. Two different audiometric patterns could be distinguished when hearing loss was corrected for age and sex. Four carriers (24%) had significant sensorineural hearing loss (SNHL) which increased at higher frequencies. The other 13 carriers had SNHL of about 10 dB at 0.25 and 0.5 kHz, but less at higher frequencies. Vestibular findings were generally normal. Electrooculography demonstrated a significant lower mean light peak/dark trough ratio in Usher type I carriers compared to normal control individuals. The methods used in this study were found not to be specific enough to clinically identify carriers of Usher type I syndrome. Nevertheless it is remarkable that a number of obligate carriers showed significant audiological and ophthalmological abnormalities. 29 refs., 1 fig., 3 tabs.

  18. Toxic shock syndrome: clinical and laboratory findings in 30 patients.

    PubMed Central

    Chow, A. W.; Wong, C. K.; MacFarlane, A. M.; Bartlett, K. H.

    1984-01-01

    Thirty patients with toxic shock syndrome (TSS) that developed between May 1980 and March 1983 in Vancouver were studied prospectively. In the 15 cases related to menstruation the illness followed a uniform and predictable clinical course. In the 15 other cases (3 in males) the disease was not related to menstruation, and the sources of the Staphylococcus aureus infections were diverse; 67% were hospital-acquired. Profound but transient lymphocytopenia associated with marked leukocytosis was the most striking laboratory finding and one not previously emphasized in the literature. S. aureus was isolated from sites of soft-tissue infection, the vagina or the endocervix in all except one case. Two patients had bacteremia. Phage types 29 and 29 + predominated among the isolates tested. All the genital S. aureus isolates tested produced the TSS marker protein, while the bacteria from wounds, throat, nose and blood were sometimes positive. Two patients (7%) died from refractory shock and multiple organ failure. All patients with a febrile, exanthematous, multisystem illness, particularly if it is associated with menstruation or a staphylococcal infection, should be evaluated promptly and treated empirically for TSS. Images FIG. 1 FIG. 2 PMID:6692240

  19. Clinical manifestations and oral findings in Fraser syndrome.

    PubMed

    Diniz, Michele Baffi; Lima, Luciana Monti; Sacono, Nancy Tomoko; de Paula, Andréia Bolzan; dos Santos-Pinto, Lourdes

    2007-01-01

    This article is the first known case report of Fraser syndrome in the dental literature. Its purpose was to present the clinical manifestations, oral findings, and dental treatment of a 14-year, 10-month-old female patient. Fraser syndrome is a rare recessive autosomal genetic disorder characterized by multisystemic malformation, usually comprising cryptophthalmos, syndactyly, and renal defects. The child presented with: (1) hydrocephaly; (2) face asymmetry; (3) low-inserted ears; (4) flat nose bridge; (5) cryptophthalmos; (6) bilateral absence of eyeballs; (7) hypertelorism; (8) syndactyly on the left fingers and toes; (9) skeletal defects; and (10) lower limb asymmetry. The intraoral examination revealed: (1) complete primary denture; (2) malocclusion; (3) tooth crowding; (4) ogival palate; (5) normal labial frena; (6) absence of lingual frenum (not compromising the tongue movements); (7) parched lips; (8) supragingival calculus adhered to all tooth surfaces; and (9) moderate gingivitis. The dental treatment consisted of periodic monitoring of the patient's oral health status and supragingival scaling associated with topical applications of 0.12% chlorhexidine digluconate gel at 2-week intervals to reduce gingivitis.

  20. The Neuropathology of Huntington´s disease: classical findings, recent developments and correlation to functional neuroanatomy.

    PubMed

    Rüb, Udo; Vonsattel, Jean Paul V; Heinsen, Helmut; Korf, Horst-Werner

    2015-01-01

    Huntington’s disease (HD) is a severe, autosomal dominantly inherited, gradually worsening neurological disorder, the clinical features of which were first described in 1863 by Irving W. Lyon and with additional details, in 1872, by George Huntington. Progress in molecular biological research has shown that HD is caused by meiotically unstable CAG-repeats in the mutated HD gene (the so-called IT 15 gene) on chromosome 4p16.3, which encodes the mutated protein huntingtin (Htt). This monograph provides a survey of the stepwise progress in neuropathological HD research made during a time period of more than hundred years, the currently known neuropathological hallmarks of HD, as well as their pathogenic and clinical relevance. Starting with the initial descriptions of the progressive degeneration of the neostriatum (i.e., caudate nucleus and putamen) as one of the key events in HD, the worldwide practiced Vonsattel HD grading system of striatal neurodegeneration will be outlined. Correlating qualitative and quantitative neuropathological data with characteristics pertaining to the functional neuroanatomy of the human brain, subsequent chapters will highlight the latest neuropathological HD findings: the area- and layer-specifi c neuronal loss in the cerebral neo- and allocortex, the neurodegeneration of select thalamic nuclei, the affection of the cerebellar cortex and the deep cerebellar nuclei, the involvement of distinct brainstem nuclei, and the pathophysiological relevance of these pathologies for the clinical phenotype of HD. Finally, the potential pathophysiological role of axonal transport deficit

  1. Clinical and Laboratory Findings of Pigmented Purpuric Dermatoses

    PubMed Central

    Külcü Çakmak, Seray; Özcan, Nimet; Oğuz, Işıl Deniz; Gül, Ülker; Bıyıklı, Zeynep

    2014-01-01

    Background Pigmented purpuric dermatoses (PPD) are chronic, recurrent group of disorders characterized by petechial and pigmentary macules usually localized on the lower limbs. Its etiopathogenesis is unknown. There are very few clinical and etiological studies on PPD in the literature. Objective We aim to examine the etiopathogenetic factors of PPD retrospectively. Methods Demographic characteristics, history of co-morbid disorders and drug usage, hepatitis markers, levels of serum lipids, findings of Doppler ultrasonography in lower extremities, and patch test results of the 24 patients of PPD were examined retrospectively. The patch test results, history of drug use, and co-morbid disorders of the patients were compared with those of the control groups. Results The male-to-female ratio was 1 : 2, and 83.3% of the patients had Schamberg disease. Seventeen patients had co-morbid disorders and 16 used various drugs, but there was no statistically significant difference between the controls and patients. One patient was positive for hepatitis B surface antigen and 1, for anti-hepatitis C virus antibody. Nine had elevated total cholesterol levels, and 5 had elevated triglyceride levels. Further, 30% of them were positive for at least 1 allergen, while 16% of the control subjects were positive for at least 1 allergen, but statistically significant difference was not found between the 2 groups. Variable degrees of venous insufficiency were detected in 75% of the patients on Doppler ultrasonography of the lower extremities. Conclusion Venous insufficiency and hypercholesterolemia might be the basic predisposing factors for PPD. Further studies are needed to show if diabetes mellitus and hypertension may cause perivascular inflammation in PPD. PMID:25324654

  2. Correlating Photoreceptor Mosaic Structure to Clinical Findings in Stargardt Disease

    PubMed Central

    Razeen, Moataz M.; Cooper, Robert F.; Langlo, Christopher S.; Goldberg, Mara R.; Wilk, Melissa A.; Han, Dennis P.; Connor, Thomas B.; Fishman, Gerald A.; Collison, Frederick T.; Sulai, Yusufu N.; Dubra, Alfredo; Carroll, Joseph; Stepien, Kimberly E.

    2016-01-01

    Purpose To demonstrate a method for correlating photoreceptor mosaic structure with optical coherence tomography (OCT) and microperimetry findings in patients with Stargardt disease. Methods A total of 14 patients with clinically diagnosed Stargardt disease were imaged using confocal and split-detection adaptive optics scanning light ophthalmoscopy. Cone photoreceptors were identified manually in a band along the temporal meridian. Resulting values were compared to a normative database (n = 9) to generate cone density deviation (CDD) maps. Manual measurement of outer nuclear layer plus Henle fiber layer (ONL+HFL) thickness was performed, in addition to determination of the presence of ellipsoid zone (EZ) and interdigitation zone (IZ) bands on OCT. These results, along with microperimetry data, were overlaid with the CDD maps. Results Wide variation in foveal structure and CDD maps was seen within this small group. Disruption of ONL+HFL and/or IZ band was seen in all patients, with EZ band preservation in regions with low cone density in 38% of locations analyzed. Normality of retinal lamellar structure on OCT corresponded with cone density and visual function at 50/78 locations analyzed. Outer retinal tubulations containing photoreceptor-like structures were observed in 3 patients. Conclusions The use of CDD color-coded maps enables direct comparison of cone mosaic local density with other measures of retinal structure and function. Larger normative datasets and improved tools for automation of image alignment are needed. Translational Relevance The approach described facilitates comparison of complex multimodal data sets from patients with inherited retinal degeneration, and can be expanded to incorporate other structural imaging or functional testing. PMID:26981328

  3. Classical hallucinogens as antidepressants? A review of pharmacodynamics and putative clinical roles.

    PubMed

    Baumeister, David; Barnes, Georgina; Giaroli, Giovanni; Tracy, Derek

    2014-08-01

    Hallucinogens have been part of spiritual practice for millennia, but controversy surrounding their mind-manifesting effects led to their proscription by the mid-20th century, largely without evidence of harm or toxicity and despite nascent data suggesting therapeutic utility in treating depressive illnesses. This review explores their pharmacodynamic actions and the current limited data on their clinic effectiveness. These drugs appear to exert their psychedelic effects through their agonist or partial agonist activity at the serotonergic 5-HT2A receptor, though they also have affinity for other metabotropic serotonin receptors. Hallucinogen binding affects a wide range of intracellular signalling pathways, the precise nature of which remains incompletely understood. They alter the serotonergic tone of brainstem raphe nuclei that project through the brain; they interact with receptors in the prefrontal cortex altering connectivity patterns and intracellular functioning; and they disrupt inhibitory control of sensory input via the thalamus to the cortex. The serotonergic system has long been implicated in anxiety and depressive disorders, and is a major target of most existing antidepressants. Classical hallucinogens alter the functioning of this system, but not in the same way current medications do: whilst there are identified receptors and neurotransmitter pathways through which hallucinogens could therein produce therapeutic effects, the neurobiology of this remains speculative at this time. There is currently an extremely limited but growing literature on hallucinogen safety and clinical application. The drugs appear well tolerated by healthy controls and clinical populations, and the rapid tolerance to repeated administration might reduce the possibility of dependency. Clinical trials reported over the past decade have generally shown positive therapeutic potential, but they are notably few in number. Legislative policy has had a freezing effect on evaluation

  4. Classical hallucinogens as antidepressants? A review of pharmacodynamics and putative clinical roles

    PubMed Central

    Baumeister, David; Barnes, Georgina; Giaroli, Giovanni

    2014-01-01

    Hallucinogens have been part of spiritual practice for millennia, but controversy surrounding their mind-manifesting effects led to their proscription by the mid-20th century, largely without evidence of harm or toxicity and despite nascent data suggesting therapeutic utility in treating depressive illnesses. This review explores their pharmacodynamic actions and the current limited data on their clinic effectiveness. These drugs appear to exert their psychedelic effects through their agonist or partial agonist activity at the serotonergic 5-HT2A receptor, though they also have affinity for other metabotropic serotonin receptors. Hallucinogen binding affects a wide range of intracellular signalling pathways, the precise nature of which remains incompletely understood. They alter the serotonergic tone of brainstem raphe nuclei that project through the brain; they interact with receptors in the prefrontal cortex altering connectivity patterns and intracellular functioning; and they disrupt inhibitory control of sensory input via the thalamus to the cortex. The serotonergic system has long been implicated in anxiety and depressive disorders, and is a major target of most existing antidepressants. Classical hallucinogens alter the functioning of this system, but not in the same way current medications do: whilst there are identified receptors and neurotransmitter pathways through which hallucinogens could therein produce therapeutic effects, the neurobiology of this remains speculative at this time. There is currently an extremely limited but growing literature on hallucinogen safety and clinical application. The drugs appear well tolerated by healthy controls and clinical populations, and the rapid tolerance to repeated administration might reduce the possibility of dependency. Clinical trials reported over the past decade have generally shown positive therapeutic potential, but they are notably few in number. Legislative policy has had a freezing effect on evaluation

  5. [Clinical and MRI Findings in Patients with Congenital Anosmia].

    PubMed

    Ogawa, Takao; Kato, Tomohisa; Ono, Mayu; Shimizu, Takeshi

    2015-08-01

    The clinical characteristics of 16 patients with congenital anosmia were examined retrospectively. MRI (magnetic resonance imaging) was used to assess the morphological changes in the olfactory bulbs and olfactory sulci according to the method of P. Rombaux (2009). Congenital anosmia was divided into two forms: syndromic forms in association with a syndrome, and isolated forms without evidence of other defects. Only three patients (19%) in our series had syndromic forms of congenital anosmia, such as the Kallmann syndrome. Most cases (13 patients, 81%) had isolated congenital anosmia. Psychophysical testing of the olfactory function included T&T olfactometry and the intravenous Alinamin test, which are widely used in Japan. In T&T olfactometry, detection and recognition thresholds for the five odorants are used to assign a diagnostic category representing the level of olfactory function. Most cases (14 patients, 88%) showed off-scale results on T&T olfactometry, and the Alinamin test resulted in no response in all 11 patients who underwent the test. Abnormal MRI findings of the olfactory bulbs and sulci were detected in 15 of 16 patients (94%). Olfactory bulbs were bilaterally absent in nine patients (56%), and two patients (13%) had unilateral olfactory bulbs. Four patients (25%) had bilateral hypoplastic olfactory bulbs, and only one patient had normal olfactory bulbs (6%). The olfactory sulcus was unilaterally absent in one patient (6%), and nine patients (56%) had bilaterally hypoplastic olfactory sulci. Two patients (13%) had a unilateral normal olfactory sulcus and hypoplastic olfactory sulcus. Three patients (19%) had normal olfactory sulci. Quantitative analysis showed that the volume of olfactory bulbs varied from 0 mm3 to 63.5 mm3, with a mean volume of 10.20 ± 18 mm3, and the mean depth of the olfactory sulcus varied from 0 mm to 12.22 mm, with a mean length of 4.85 ± 4.1 mm. Currently, there is no effective treatment for congenital anosmia. However

  6. [Acoustic neuroma: clinical-functional finding, results and surgical complication].

    PubMed

    Quaranta, A; Zini, C; Gandolfi, A; Piazza, F; De Thomasis, G; Frisina, A; Mercante, G; Quaranta, N; Scaringi, A; Uccelli, M

    2001-10-01

    The present work provides clinical-functional findings, results and surgical complications observed in a consecutive series of 100 subjects with acoustic neuroma (AN). Analysis of the data has made it possible to draw some important conclusions. Compromised hearing is found in 90% of the ears affected by AN. Indeed the percentage of normal hearing in such cases does not exceed 5%. There is, however, no clear correlation between degree of hearing and tumor size. The symptoms of AN do not always present unilateral or asymmetrical hearing loss, unilateral tinnitus and/or dizziness. At times AN presents atypical symptoms and can even be asymptomatic. Sudden onset of unilateral hearing loss, acute vertigo, persistent monolateral tinnitus and even isolated symptoms of the V or VI cranial nerve should lead one to suspect AN. Only by applying the diagnosis of suspected AN in a large number of cases is it possible to lower the time gap between the onset of symptoms and the definitive diagnosis of AN, increasing the number of cases diagnosed while the AN is still small. Auditory brainstem responses (ABR) are still the means of choice for screening and following up subjects where AN is suspected. Reduced ABR sensitivity reported in the literature for intracanal ANs must induce further testing with magnetic resonance imaging with gadolinium in all subjects where an AN is suspected, even when the ABR is normal. Recording of transient evoked otoacoustic emissions in the presence and in the absence of contralateral white noise has proved to be a simple, inexpensive, non-invasive test for the diagnosis of suspected retrocochlear pathologies. A deficit in vestibular function is most frequently encountered when the AN is already quite large and an alteration in the smooth pursuit test is only found when the AN involves the brainstem. These data have led us to conclude that vestibular reflex studies do not play any role in early diagnosis of AN. Surgical exeresis is the treatment of

  7. Clinical, biochemical, and genetic features of non-classical 21-hydroxylase deficiency in Japanese children.

    PubMed

    Kashimada, Kenichi; Ishii, Tomohiro; Nagasaki, Keisuke; Ono, Makoto; Tajima, Toshihiro; Yokota, Ichiro; Hasegawa, Yukihiro

    2015-01-01

    Non-classical 21-hydroxylase deficiency (NC21-OHD) is a mild form of 21-hydroxylase deficiency lacking apparent symptoms of androgen excess at birth. Most NC21-OHD cases are diagnosed after the onset of puberty, while a substantial number of patients are not diagnosed during childhood. Previous studies have reported ethnic differences in the prevalence of NC21-OHD. To date, the clinical features of NC21-OHD in Japanese children have not been systemically reported. Thus, we performed 3 independent analyses: retrospective analyses of newborn screening in 2 major Japanese cities (Sapporo and Niigata) and a national surveillance collecting clinical information from pediatric endocrinologists throughout the country. During the last 10 years, one case of NC21-OHD was diagnosed by newborn screening in each city, resulting in incidences of 2.0 (95% confidence interval = 0.0-5.9) and 2.1 (0.0-6.2) per 1,000,000 in Sapporo and Niigata, respectively. We collected information from 85% of the 135 Councilors of Japanese Society of Pediatric Endocrinology. Fifteen NC21-OHD patients were diagnosed during childhood, resulting in the estimated prevalence of 0.58 (0.28-1.1) per 1,000,000. Eleven patients were discovered by newborn screening, 7 patients developed hyperandrogenism symptoms (2-8 years of age, median 7), and 9 patients were treated with hydrocortisone at the time of the survey. Ten out of 13 patients showed compound heterozygosity for the P30L mutation of CYP21A2. Our study suggests that the prevalence/incidence of NC21-OHD is lower than that in Western countries, and that the age for initial onset of androgen excess symptoms varies during the prepubertal period.

  8. [EPIDEMIOLOGICAL, CLINICAL AND MICROBIOLOGICAL FINDINGS IN WOMEN WITH AEROBIC VAGINITIS].

    PubMed

    Dermendjiev, T; Pehlivanov, B; Hadjieva, K; Stanev, S

    2015-01-01

    Aerobic vaginitis (AV) is an alterarion of the normal lactobacillic flora accompanied by signs of inflammation, presence of mainly aerobic microorganisms from intestinal commensals or other aerobic pathogens. Clinical symptoms may vary by type and intensity and are marked by a high tendency for recurrence and chronification. Inflammation and ulcerations in AV could increase the risk of contracting HIV or other sexually transmitted infections. The aim is to study some epidemiological, clinical and microbiological features of the aerobic vaginitis in patients of the specialized Obstetric and Gynecological Clinic in Plovdiv, Bulgaria. In a retrospective research 4687 vaginal smears have been gathered in Microbiological laboratory at "St. George" Hospital - Plovdiv. We used clinical, microbiological and statistical methods. Information processing is performed by variation, alternative, correlation and graphical analysis using specialized package SPSS v13.0. The overall prevalence rate of AV in the studied population is 11.77%. The levels of prevalence of AV in pregnant and non-pregnant women are respectively 13.08% and 4.34%. The highest frequency of AV is in the age group 21-30 years (32.3%). The results show a marked association between Escherichia coli and the cases of AV (p < 0.001). AV is a common cause of vaginal symptoms in patients of specialized ambulatory outpatient. One in ten women with vaginal complaints suffers from AV Streptococcus agalactiae and Escherichia coli are most often isolated aerobic microorganisms. PMID:26863788

  9. Clinical findings in cows after experimental infection with Ehrlichia phagocytophila.

    PubMed

    Pusterla, N; Braun, U

    1997-09-01

    The goal of this study was to determine the clinical signs and course of disease in five lactating cows and in five dry cows after experimental infection with Ehrlichia phagocytophila. Ten clinically healthy Swiss Braunvieh cows, seronegative for E. phagocytophila, were injected with 50 ml of whole blood containing E. phagocytophila. The cows were examined daily for 21 days, and blood samples were collected for microscopic examination of leukocytes for the infective agent. All cows became ill with symptoms of tick-borne fever after an incubation period of 5 to 9 days. The most important clinical signs were pyrexia (40.2-41.7 degrees C), decreased milk production and mildly to moderately disturbed general condition. In addition, there were respiratory symptoms such as polypnea, nasal discharge, cough and abnormal lung sounds. Clinical signs returned to normal in all cows without treatment after an average of 8 days. E. phagocytophila bodies were seen in leukocytes 5-8 days after infection and were present for 6-14 days. The course of disease was more severe in dry cows than in lactating cows. It can be concluded that experimental infection of cows with E. phagocytophila generally has a mild course. However, the associated decrease in milk production may be of economic importance.

  10. The heart in acromegaly: correlation of echocardiographic and clinical findings.

    PubMed

    Luboshitzki, R; Hammerman, H; Barzilai, D; Markiewicz, W

    1980-05-01

    Echocardiography was performed in 14 patients with acromegaly in order to characterize cardiac involvement in this disease. The left ventricle was enlarged or hypertrophic in 10 patients (71%): the fraction of myocardial shortening, an index of left ventricular contractility, was normal in all but one; and 10 patients had a reduced mitral EF slope, suggesting that their left ventricular compliance was reduced. Cardiac disease was not suspected clinically as most patients had normal clinical, ECG and X-ray examinations of the heart. Left ventricular hypertrophy occurred in the absence of hypertension, diabetes or evidence of coronary artery disease. There was a positive correlation between left ventricular wall thickness and duration of acromegaly but not between the former and growth hormone levels after fasting, suggesting that ther must be prolonged hypersecretion of growth hormone, and not simply high levels, before cardiac hypertrophy develops.

  11. Microphthalmos with cyst: clinical presentations and computed tomographic findings.

    PubMed

    Weiss, A; Martinez, C; Greenwald, M

    1985-01-01

    Four patients with microphthalmos with cyst were examined and evaluated by computed tomography (CT). Each patient had a different clinical presentation, which varied according to the appearance of the anterior segment and the size and location of the orbital cyst. All had very poor vision in the involved eye. CT was of great value in the diagnosis and definition of this condition. The differentiation of microphthalmos with cyst from coloboma and from other orbital masses by means of CT is discussed.

  12. Clinical and MRI findings in spinocerebellar ataxia type 5.

    PubMed

    Stevanin, G; Herman, A; Brice, A; Dürr, A

    1999-10-12

    Spinocerebellar ataxia type 5 (SCA5), one of the genetically heterogeneous autosomal dominant cerebellar ataxias, was assigned to chromosome 11 in a single family descending from the grandparents of President Abraham Lincoln. We report a second, apparently unrelated, SCA5 family of French origin. The overall clinical picture was a slowly progressive cerebellar syndrome beginning mostly in the third decade (27+/-10 years, range 14 to 40). MRI showed a marked global cerebellar atrophy similar to SCA6.

  13. Ledderhose Disease: Clinical, Radiological (Ultrasound and MRI), and Anatomopathological Findings

    PubMed Central

    Omor, Y.; Dhaene, B.; Grijseels, S.; Alard, S.

    2015-01-01

    Plantar fibromatosis, or Ledderhose disease, is a rare hyperproliferative disorder of the plantar aponeurosis. It may occur at any age, with the greatest prevalence at middle age and beyond. This disorder is more common in men than woman and it is sometimes associated with other forms of fibromatosis. Diagnosis is based on clinical examination. Ultrasound (US) and magnetic resonance imaging (MRI) can be useful to confirm the diagnosis. A 44-year-old man with Ledderhose disease who underwent ultrasound and MR is described in this paper. PMID:26425380

  14. Research and clinical findings--a wholistic view.

    PubMed

    Hanson, Marvin L

    2012-11-01

    Valuable information is available to clinicians both from research articles, and reports from clinicians. Both sources have limitations. Research, with the exception of longitudinal studies, tends to isolate a variable or two from the whole, limiting its usefulness. Clinical techniques reported are sometimes biased, and perform well for certain therapists in certain settings, and not so well for others. Interrelationships are important among variables such as dentition, anatomy, physiology, oral muscle functions, oral rest postures, eating, and speech. Each affects the others. Equally important are interrelationships among all the specialists who treat patients with orofacial myofunctional disorders. A wholistic approach to the evaluation and treatment of orofacial disorders is advocated.

  15. Cerebro-costo-mandibular syndrome: Clinical, radiological, and genetic findings.

    PubMed

    Tooley, Madeleine; Lynch, Danielle; Bernier, Francois; Parboosingh, Jillian; Bhoj, Elizabeth; Zackai, Elaine; Calder, Alistair; Itasaki, Nobue; Wakeling, Emma; Scott, Richard; Lees, Melissa; Clayton-Smith, Jill; Blyth, Moira; Morton, Jenny; Shears, Debbie; Kini, Usha; Homfray, Tessa; Clarke, Angus; Barnicoat, Angela; Wallis, Colin; Hewitson, Rebecca; Offiah, Amaka; Saunders, Michael; Langton-Hewer, Simon; Hilliard, Tom; Davis, Peter; Smithson, Sarah

    2016-05-01

    Cerebro-Costo-Mandibular syndrome (CCMS) is a rare autosomal dominant condition comprising branchial arch-derivative malformations with striking rib-gaps. Affected patients often have respiratory difficulties, associated with upper airway obstruction, reduced thoracic capacity, and scoliosis. We describe a series of 12 sporadic and 4 familial patients including 13 infants/children and 3 adults. Severe micrognathia and reduced numbers of ribs with gaps are consistent findings. Cleft palate, feeding difficulties, respiratory distress, tracheostomy requirement, and scoliosis are common. Additional malformations such as horseshoe kidney, hypospadias, and septal heart defect may occur. Microcephaly and significant developmental delay are present in a small minority of patients. Key radiological findings are of a narrow thorax, multiple posterior rib gaps and abnormal costo-transverse articulation. A novel finding in 2 patients is bilateral accessory ossicles arising from the hyoid bone. Recently, specific mutations in SNRPB, which encodes components of the major spliceosome, have been found to cause CCMS. These mutations cluster in an alternatively spliced regulatory exon and result in altered SNRPB expression. DNA was available from 14 patients and SNRPB mutations were identified in 12 (4 previously reported). Eleven had recurrent mutations previously described in patients with CCMS and one had a novel mutation in the alternative exon. These results confirm the specificity of SNRPB mutations in CCMS and provide further evidence for the role of spliceosomal proteins in craniofacial and thoracic development.

  16. Transportation to clinic: findings from a pilot clinic-based survey of low-income suburbanites.

    PubMed

    Silver, Diana; Blustein, Jan; Weitzman, Beth C

    2012-04-01

    Health care policymakers have cited transportation barriers as key obstacles to providing health care to low-income suburbanites, particularly because suburbs have become home to a growing number of recent immigrants who are less likely to own cars than their neighbors. In a suburb of New York City, we conducted a pilot survey of low income, largely immigrant clients in four public clinics, to find out how much transportation difficulties limit their access to primary care. Clients were receptive to the opportunity to participate in the survey (response rate = 94%). Nearly one-quarter reported having transportation problems that had caused them to miss or reschedule a clinic appointment in the past. Difficulties included limited and unreliable local bus service, and a tenuous connection to a car. Our pilot work suggests that this population is willing to participate in a survey on this topic. Further, since even among those attending clinic there was significant evidence of past transportation problems, it suggests that a population based survey would yield information about substantial transportation barriers to health care.

  17. Iliac vein compression syndrome: Clinical, imaging and pathologic findings

    PubMed Central

    Brinegar, Katelyn N; Sheth, Rahul A; Khademhosseini, Ali; Bautista, Jemianne; Oklu, Rahmi

    2015-01-01

    May-Thurner syndrome (MTS) is the pathologic compression of the left common iliac vein by the right common iliac artery, resulting in left lower extremity pain, swelling, and deep venous thrombosis. Though this syndrome was first described in 1851, there are currently no standardized criteria to establish the diagnosis of MTS. Since MTS is treated by a wide array of specialties, including interventional radiology, vascular surgery, cardiology, and vascular medicine, the need for an established diagnostic criterion is imperative in order to reduce misdiagnosis and inappropriate treatment. Although MTS has historically been diagnosed by the presence of pathologic features, the use of dynamic imaging techniques has led to a more radiologic based diagnosis. Thus, imaging plays an integral part in screening patients for MTS, and the utility of a wide array of imaging modalities has been evaluated. Here, we summarize the historical aspects of the clinical features of this syndrome. We then provide a comprehensive assessment of the literature on the efficacy of imaging tools available to diagnose MTS. Lastly, we provide clinical pearls and recommendations to aid physicians in diagnosing the syndrome through the use of provocative measures. PMID:26644823

  18. Marrow Fat and Bone: Review of Clinical Findings

    PubMed Central

    Schwartz, Ann V.

    2015-01-01

    With growing interest in the connection between fat and bone, there has been increased investigation of the relationship with marrow fat in particular. Clinical research has been facilitated by the development of non-invasive methods to measure bone marrow fat content and composition. Studies in different populations using different measurement techniques have established that higher marrow fat is associated with lower bone density and prevalent vertebral fracture. The degree of unsaturation in marrow fat may also affect bone health. Although other fat depots tend to be strongly correlated, marrow fat has a distinct pattern, suggesting separate mechanisms of control. Longitudinal studies are limited, but are crucial to understand the direct and indirect roles of marrow fat as an influence on skeletal health. With greater appreciation of the links between bone and energy metabolism, there has been growing interest in understanding the relationship between marrow fat and bone. It is well established that levels of marrow fat are higher in older adults with osteoporosis, defined by either low bone density or vertebral fracture. However, the reasons for and implications of this association are not clear. This review focuses on clinical studies of marrow fat and its relationship to bone. PMID:25870585

  19. Fetal tumors: prenatal ultrasonographic findings and clinical characteristics

    PubMed Central

    2014-01-01

    The incidence of fetal tumors has been increased due to generalization of prenatal evaluation and improvement of imaging techniques. The early detection of a fetal tumor and understanding of its imaging features are very important for fetal, maternal, and neonatal care. Ultrasonography is usually used for the detection and differential diagnosis of fetal tumors, and magnetic resonance imaging is increasingly being used as a complementary study. Many fetal tumors have different clinical and imaging features compared with pediatric tumors. Although several fetal tumors may mimic other common anomalies, some specific imaging features may carry early accurate diagnosis of fetal tumors, which may alter the prenatal management of a pregnancy and the mode of delivery, and facilitate immediate postnatal treatment. PMID:25116458

  20. Lupus enteritis: from clinical findings to therapeutic management

    PubMed Central

    2013-01-01

    Lupus enteritis is a rare and poorly understood cause of abdominal pain in patients with systemic lupus erythematosus (SLE). In this study, we report a series of 7 new patients with this rare condition who were referred to French tertiary care centers and perform a systematic literature review of SLE cases fulfilling the revised ACR criteria, with evidence for small bowel involvement, excluding those with infectious enteritis. We describe the characteristics of 143 previously published and 7 new cases. Clinical symptoms mostly included abdominal pain (97%), vomiting (42%), diarrhea (32%) and fever (20%). Laboratory features mostly reflected lupus activity: low complement levels (88%), anemia (52%), leukocytopenia or lymphocytopenia (40%) and thrombocytopenia (21%). Median CRP level was 2.0 mg/dL (range 0–8.2 mg/dL). Proteinuria was present in 47% of cases. Imaging studies revealed bowel wall edema (95%), ascites (78%), the characteristic target sign (71%), mesenteric abnormalities (71%) and bowel dilatation (24%). Only 9 patients (6%) had histologically confirmed vasculitis. All patients received corticosteroids as a first-line therapy, with additional immunosuppressants administered either from the initial episode or only in case of relapse (recurrence rate: 25%). Seven percent developed intestinal necrosis or perforation, yielding a mortality rate of 2.7%. Altogether, lupus enteritis is a poorly known cause of abdominal pain in SLE patients, with distinct clinical and therapeutic features. The disease may evolve to intestinal necrosis and perforation if untreated. Adding with this an excellent steroid responsiveness, timely diagnosis becomes primordial for the adequate management of this rare entity. PMID:23642042

  1. Lupus enteritis: from clinical findings to therapeutic management.

    PubMed

    Janssens, Peter; Arnaud, Laurent; Galicier, Lionel; Mathian, Alexis; Hie, Miguel; Sene, Damien; Haroche, Julien; Veyssier-Belot, Catherine; Huynh-Charlier, Isabelle; Grenier, Philippe A; Piette, Jean-Charles; Amoura, Zahir

    2013-01-01

    Lupus enteritis is a rare and poorly understood cause of abdominal pain in patients with systemic lupus erythematosus (SLE). In this study, we report a series of 7 new patients with this rare condition who were referred to French tertiary care centers and perform a systematic literature review of SLE cases fulfilling the revised ACR criteria, with evidence for small bowel involvement, excluding those with infectious enteritis. We describe the characteristics of 143 previously published and 7 new cases. Clinical symptoms mostly included abdominal pain (97%), vomiting (42%), diarrhea (32%) and fever (20%). Laboratory features mostly reflected lupus activity: low complement levels (88%), anemia (52%), leukocytopenia or lymphocytopenia (40%) and thrombocytopenia (21%). Median CRP level was 2.0 mg/dL (range 0-8.2 mg/dL). Proteinuria was present in 47% of cases. Imaging studies revealed bowel wall edema (95%), ascites (78%), the characteristic target sign (71%), mesenteric abnormalities (71%) and bowel dilatation (24%). Only 9 patients (6%) had histologically confirmed vasculitis. All patients received corticosteroids as a first-line therapy, with additional immunosuppressants administered either from the initial episode or only in case of relapse (recurrence rate: 25%). Seven percent developed intestinal necrosis or perforation, yielding a mortality rate of 2.7%. Altogether, lupus enteritis is a poorly known cause of abdominal pain in SLE patients, with distinct clinical and therapeutic features. The disease may evolve to intestinal necrosis and perforation if untreated. Adding with this an excellent steroid responsiveness, timely diagnosis becomes primordial for the adequate management of this rare entity. PMID:23642042

  2. Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia.

    PubMed

    Namavar, Yasmin; Barth, Peter G; Kasher, Paul R; van Ruissen, Fred; Brockmann, Knut; Bernert, Günther; Writzl, Karin; Ventura, Karen; Cheng, Edith Y; Ferriero, Donna M; Basel-Vanagaite, Lina; Eggens, Veerle R C; Krägeloh-Mann, Ingeborg; De Meirleir, Linda; King, Mary; Graham, John M; von Moers, Arpad; Knoers, Nine; Sztriha, Laszlo; Korinthenberg, Rudolf; Dobyns, William B; Baas, Frank; Poll-The, Bwee Tien

    2011-01-01

    Pontocerebellar hypoplasia is a group of autosomal recessive neurodegenerative disorders with prenatal onset. The common characteristics are cerebellar hypoplasia with variable atrophy of the cerebellum and the ventral pons. Supratentorial involvement is reflected by variable neocortical atrophy, ventriculomegaly and microcephaly. Mutations in the transfer RNA splicing endonuclease subunit genes (TSEN54, TSEN2, TSEN34) were found to be associated with pontocerebellar hypoplasia types 2 and 4. Mutations in the mitochondrial transfer RNA arginyl synthetase gene (RARS2) were associated with pontocerebellar hypoplasia type 6. We studied a cohort of 169 patients from 141 families for mutations in these genes, of whom 106 patients tested positive for mutations in one of the TSEN genes or the RARS2 gene. In order to delineate the neuroradiological and clinical phenotype of patients with mutations in these genes, we compared this group with 63 patients suspected of pontocerebellar hypoplasia who were negative on mutation analysis. We found a strong correlation (P < 0.0005) between TSEN54 mutations and a dragonfly-like cerebellar pattern on magnetic resonance imaging, in which the cerebellar hemispheres are flat and severely reduced in size and the vermis is relatively spared. Mutations in TSEN54 are clinically associated with dyskinesia and/or dystonia and variable degrees of spasticity, in some cases with pure generalized spasticity. Nonsense or splice site mutations in TSEN54 are associated with a more severe phenotype of more perinatal symptoms, ventilator dependency and early death. In addition, we present ten new mutations in TSEN54, TSEN2 and RARS2. Furthermore, we show that pontocerebellar hypoplasia type 1 together with elevated cerebrospinal fluid lactate may be caused by RARS2 mutations.

  3. Lupus enteritis: from clinical findings to therapeutic management.

    PubMed

    Janssens, Peter; Arnaud, Laurent; Galicier, Lionel; Mathian, Alexis; Hie, Miguel; Sene, Damien; Haroche, Julien; Veyssier-Belot, Catherine; Huynh-Charlier, Isabelle; Grenier, Philippe A; Piette, Jean-Charles; Amoura, Zahir

    2013-05-03

    Lupus enteritis is a rare and poorly understood cause of abdominal pain in patients with systemic lupus erythematosus (SLE). In this study, we report a series of 7 new patients with this rare condition who were referred to French tertiary care centers and perform a systematic literature review of SLE cases fulfilling the revised ACR criteria, with evidence for small bowel involvement, excluding those with infectious enteritis. We describe the characteristics of 143 previously published and 7 new cases. Clinical symptoms mostly included abdominal pain (97%), vomiting (42%), diarrhea (32%) and fever (20%). Laboratory features mostly reflected lupus activity: low complement levels (88%), anemia (52%), leukocytopenia or lymphocytopenia (40%) and thrombocytopenia (21%). Median CRP level was 2.0 mg/dL (range 0-8.2 mg/dL). Proteinuria was present in 47% of cases. Imaging studies revealed bowel wall edema (95%), ascites (78%), the characteristic target sign (71%), mesenteric abnormalities (71%) and bowel dilatation (24%). Only 9 patients (6%) had histologically confirmed vasculitis. All patients received corticosteroids as a first-line therapy, with additional immunosuppressants administered either from the initial episode or only in case of relapse (recurrence rate: 25%). Seven percent developed intestinal necrosis or perforation, yielding a mortality rate of 2.7%. Altogether, lupus enteritis is a poorly known cause of abdominal pain in SLE patients, with distinct clinical and therapeutic features. The disease may evolve to intestinal necrosis and perforation if untreated. Adding with this an excellent steroid responsiveness, timely diagnosis becomes primordial for the adequate management of this rare entity.

  4. Chronic post-traumatic headache: clinical findings and possible mechanisms

    PubMed Central

    Defrin, Ruth

    2014-01-01

    Chronic post-traumatic headache (CPTHA), the most frequent complaint after traumatic brain injury (TBI), dramatically affects quality of life and function. Despite its high prevalence and persistence, the mechanism of CPTHA is poorly understood. This literature review aimed to analyze the results of studies assessing the characteristics and sensory profile of CPTHA in order to shed light on its possible underlying mechanisms. The search for English language articles published between 1960 and 2013 was conducted in MEDLINE, CINAHL, and PubMed. Studies assessing clinical features of headache after TBI as well as studies conducting quantitative somatosensory testing (QST) in individuals with CPTHA and in individuals suffering from other types of pain were included. Studies on animal models of pain following damage to peripheral tissues and to the peripheral and central nervous system were also included. The clinical features of CPTHA resembled those of primary headache, especially tension-type and migraine headache. Positive and negative signs were prevalent among individuals with CPTHA, in both the head and in other body regions, suggesting the presence of local (cranial) mechanical hypersensitivity, together with generalized thermal hypoesthesia and hypoalgesia. Evidence of dysfunctional pain modulation was also observed. Chronic post-traumatic headache can result from damage to intra- and pericranial tissues that caused chronic sensitization of these tissues. Alternatively, although not mutually exclusive, CPTHA might possibly be a form of central pain due to damage to brain structures involved in pain processing. These, other possibilities, as well as risk factors for CPTHA are discussed at length. PMID:24976746

  5. Response to lithium in bipolar disorder: clinical and genetic findings.

    PubMed

    Rybakowski, Janusz K

    2014-06-18

    The use of lithium is a cornerstone for preventing recurrences in bipolar disorder (BD). The response of patients with bipolar disorder to lithium has different levels of magnitude. About one-third of lithium-treated patients are excellent lithium responders (ELR), showing total prevention of the episodes. A number of clinical characteristics were delineated in patients with favorable response to lithium as regards to clinical course, family history of mood disorders, and psychiatric comorbidity. We have also demonstrated that temperamental features of hypomania (a hyperthymic temperament) and a lack of cognitive disorganization predict the best results of lithium prophylaxis. A degree of prevention against manic and depressive episodes has been regarded as an endophenotype for pharmacogenetic studies. The majority of data have been gathered from so-called "candidate" gene studies. The candidates were selected on the basis of neurobiology of bipolar disorder and mechanisms of lithium action including, among others, neurotransmission, intracellular signaling, neuroprotection or circadian rhythms. We demonstrated that response to lithium has been connected with the genotype of BDNF gene and serum BDNF levels and have shown that ELR have normal cognitive functions and serum BDNF levels, even after long-term duration of the illness. A number of genome-wide association studies (GWAS) of BD have been also performed in recent years, some of which also focused on lithium response. The Consortium on Lithium Genetics (ConLiGen) has established the large sample for performing the genome-wide association study (GWAS) of lithium response in BD, and the first results have already been published.

  6. Cerebellar disorders: clinical/radiologic findings and modern imaging tools.

    PubMed

    Manto, Mario; Habas, Christophe

    2016-01-01

    Cerebellar disorders, also called cerebellar ataxias, comprise a large group of sporadic and genetic diseases. Their core clinical features include impaired control of coordination and gait, as well as cognitive/behavioral deficits usually not detectable by a standard neurologic examination and therefore often overlooked. Two forms of cognitive/behavioral syndromes are now well identified: (1) the cerebellar cognitive affective syndrome, which combines an impairment of executive functions, including planning and working memory, deficits in visuospatial skills, linguistic deficiencies such as agrammatism, and inappropriate behavior; and (2) the posterior fossa syndrome, a very acute form of cerebellar cognitive affective syndrome occurring essentially in children. Sporadic ataxias include stroke, toxic causes, immune ataxias, infectious/parainfectious ataxias, traumatic causes, neoplasias and paraneoplastic syndromes, endocrine disorders affecting the cerebellum, and the so-called "degenerative ataxias" (multiple system atrophy, and sporadic adult-onset ataxias). Genetic ataxias include mainly four groups of disorders: autosomal-recessive cerebellar ataxias, autosomal-dominant ataxias (spinocerebellar ataxias and episodic ataxias), mitochondrial disorders, and X-linked ataxias. In addition to biochemical studies and genetic tests, brain imaging techniques are a cornerstone for the diagnosis, clinicoanatomic correlations, and follow-up of cerebellar ataxias. Modern radiologic tools to assess cerebellar ataxias include: functional imaging studies, magnetic resonance spectroscopy, volumetric studies, and tractography. These complementary methods provide a multimodal appreciation of the whole long-range cerebellar network functioning, and allow the extraction of potential biomarkers for prognosis and rating level of recovery after treatment. PMID:27432679

  7. Clinical findings and immunological abnormalities in Yu-Cheng patients

    SciTech Connect

    Lue, Y.C.; Wu, Y.C.

    1985-02-01

    An outbreak of poisoning caused by ingestion of rice bran oil which was accidentally contaminated with polychlorinated biphenyls (PCBs) broke out in Taiwan in February 1979. Diagnosis, management, and follow-up of the patients were performed at special clinics, and subjective symptoms and cutaneous changes such as peculiar acneform eruptions and pigmentation were recorded. The patients were divided into six age groups of both essex, and the body surface of the patients was divided into 12 sections according to the nature of skin. The prevalence of each type of cutaneous change was proved statistically by the chi-square test. The examination of the immune system function in the patients at 1 year revealed: decreased concentration of IgM and IgA but not of IgG; decreased percentage of total T-cells, active T-cells, and helper T-cells, normal percentage of B-cells and suppressor T-cells; suppression of delayed type response to recalling antigens; enhancement of lymphocyte spontaneous proliferation; and enhancement of lymphocyte proliferation with PHA, PWM, and PPD stimulation but not ConA. Follow-up studies 3 years later showed decreased blood PCB levels; some improvement of subjective symptoms and cutaneous changes; recovery of skin testing response to PPD; normal percentage of total T-cells and increased percentage of suppressor T-cells; and enhancement of lymphocyte proliferation spontaneously or under the stimulation of various mitogens.

  8. Findings

    MedlinePlus

    ... Issue All Issues Explore Findings by Topic Cell Biology Cellular Structures, Functions, Processes, Imaging, Stress Response Chemistry ... Glycobiology, Synthesis, Natural Products, Chemical Reactions Computers in Biology Bioinformatics, Modeling, Systems Biology, Data Visualization Diseases Cancer, ...

  9. Lyme disease in Wisconsin: epidemiologic, clinical, serologic, and entomologic findings.

    PubMed

    Davis, J P; Schell, W L; Amundson, T E; Godsey, M S; Spielman, A; Burgdorfer, W; Barbour, A G; LaVenture, M; Kaslow, R A

    1984-01-01

    In 1980-82, 80 individuals (71 Wisconsin residents) had confirmed Lyme disease (LD-c) reported; 39 additional patients had probable or possible LD. All cases of LD-c occurred during May-November; 73 percent occurred during June-July; 54 (68 percent) occurred in males. The mean age was 38.7 years (range, 7-77 years). Among LD-c patients, likely exposure to the presumed vector Ixodes dammini (ID) occurred in 22 different Wisconsin counties. Antibodies to the ID spirochete that causes LD occurred in 33 of 49 LD-c cases versus 0 of 18 in ill controls (p less than .001) and in 13 of 26 LD-c cases treated with penicillin or tetracycline versus 16 of 19 LD-c cases not treated. Early antibiotic therapy appears to blunt the antibody response to the ID spirochete. Regional tick surveys conducted in Wisconsin during each November in 1979-82 have demonstrated regions of greater density of ID. Utilizing comparable tick collection in these surveys, increases were noted in the percentage of deer with ID from 24 percent (31/128) in 1979 to 38 percent (58/152) in 1981, in the standardized mean value of ID/deer from 1.0 in 1979 to 2.2 in 1981, in the percentage of ID of the total ticks collected from 13 percent in 1979 to 71 percent in 1981, or in the ratio of ID to Dermacentor albipictus ticks from 0.14 in 1979 to 2.44 in 1981. However, a reduction in the density of ID/deer was noted generally throughout Wisconsin in 1982 when compared to 1981. LD is widespread in Wisconsin, with ecologic and clinical features similar to those occurring along the eastern seaboard. PMID:6334942

  10. Clinical and electrographic findings in epileptic vertigo and dizziness

    PubMed Central

    Lee, Seung-Han; Robinson, Karen A.; Kaplan, Peter W.; Newman-Toker, David E.

    2015-01-01

    Objective: Seizures can cause vestibular symptoms, even without obvious epileptic features. We sought to characterize epileptic vertigo or dizziness (EVD) to improve differentiation from nonepileptic causes, particularly when vestibular symptoms are the sole manifestation. Methods: We conducted a systematic review with electronic (Medline) and manual search for English-language studies (1955–2014). Two independent reviewers selected studies. Study/patient characteristics were abstracted. We defined 3 study population types: (1) seizures, some experiencing vertigo/dizziness (disease cohort); (2) vertigo/dizziness, some due to seizures (symptom cohort); (3) vertigo/dizziness due to seizures in all patients (EVD-only cohort). Results: We identified 84 studies describing 11,354 patients (disease cohort = 8,129; symptom cohort = 2,965; EVD-only cohort = 260). Among 1,055 EVD patients in whom a distinction could be made, non-isolated EVD was present in 8.5%, isolated EVD in 0.8%. Thorough diagnostic workups (ictal EEG, vestibular testing, and brain MRI to exclude other causes) were rare (<0.1%). Ictal EEG was reported in 487 (4.3%), formal neuro-otologic assessment in 1,107 (9.7%). Localized EEG abnormalities (n = 350) were most frequently temporal (79.8%) and uncommonly parietal (11.8%). Duration of episodic vestibular symptoms varied, but was very brief (<30 seconds) in 69.6% of isolated EVD and 6.9% of non-isolated EVD. Conclusions: Non-isolated EVD is much more prevalent than isolated EVD, which appears to be rare. Diagnostic evaluations for EVD are often incomplete. EVD is primarily associated with temporal lobe seizures; whether this reflects greater epidemiologic prevalence of temporal lobe seizures or a tighter association with dizziness/vertigo presentations than with other brain regions remains unknown. Consistent with clinical wisdom, isolated EVD spells often last just seconds, although many patients experience longer spells. PMID:25795644

  11. Minority recruitment into clinical trials: Experimental findings and practical implications

    PubMed Central

    Brown, Susan D.; Lee, Katherine; Schoffman, Danielle E.; King, Abby C.; Crawley, LaVera M.; Kiernan, Michaela

    2012-01-01

    Racial and ethnic minorities in the US suffer disproportionately from obesity and related comorbidities, yet remain underrepresented in health research. To date, research on practical strategies to improve minority reach and recruitment into clinical trials is primarily descriptive rather than experimental. Within a randomized behavioral weight management trial for obese women, this recruitment experiment examined whether two characteristics of direct mail letters, an ethnically-targeted statement and personalization, increased the response rate among minority women. The ethnically-targeted statement noted ethnic-specific information about health risks of obesity. Personalized letters included recipients’ names/addresses in the salutation and a handwritten signature on high-quality letterhead. Of women sent direct mail letters (N=30,000), those sent letters with the ethnically-targeted statement were more likely to respond than women sent letters with the generic statement, 0.8% (n=121) vs. 0.6% (n=90) respectively, p=.03, a 34.4% increase. Women sent personalized letters were no more likely to respond than women sent non-personalized letters, p=.53. In the weight management trial itself, of 267 women randomized into the trial, 33.7% (n=90) were minorities. Of minority women randomized into the trial, 68.9% (n=62) were recruited by direct mail letters: 75.8% (n=47) of those were sent a letter and 24.2% (n=15) were referred by friends/family who were sent a letter. The results indicate that a simple modification to a standard recruitment letter can have a meaningful impact on minority reach and recruitment rates. Practical implications include using ethnically-targeted, non-personalized direct mail letters and recruiting through friends/family at no additional cost. PMID:22449836

  12. Sporadic fatal insomnia with clinical, laboratory, and genetic findings.

    PubMed

    Luo, Jin Jun; Truant, Allan L; Kong, Qingzhong; Zou, Wen-Quan

    2012-08-01

    A 75-year-old man presented with a three-year history of progressively worsening insomnia and dementia. His mother and older sister had similar disorders. On initial examination, he was awake, apathetic, and disoriented but had no focal neurological deficits. Electroencephalography showed diffuse background slowing with neither periodic discharge nor sleeping activity. A single-photon emission CT scan showed significantly reduced cerebral perfusion in bilateral thalami, basal ganglia, and limbic cortices. In the late stage of his illness, he developed sphincter dysfunction. Laboratory studies showed increased T-lymphocytes and B-lymphocytes and reduced cortisol level. Cerebrospinal fluid 14-3-3 protein was absent. Genetic evaluations failed to show the aspartate to asparagine point mutation at codon 178 but disclosed an asparagine to serine substitution at codon 171 in one allele and a deletion of 24 base pairs in the other allele in the human prion protein gene. These findings led to a diagnosis of sporadic fatal insomnia, which is a recently described prion disease.

  13. Impulsivity: a discussion of clinical and experimental findings.

    PubMed

    Evenden, J

    1999-01-01

    Impulsivity can often be an important clinical problem in psychiatry and neurology. In psychiatry, the manifestation of impulsive behaviour in syndromes such as personality disorders, attention deficit hyperactivity disorder and in substance abuse may be different, and this has led to conflicting definitions. There has also been a tendency to concentrate on the nature of the behavioural manifestation (problems with the law, aggression, drug use, behavioural problems in school) rather than shared psychological processes, and to ignore the fact that impulsivity can also have positive aspects. In a normal population, the personality trait of impulsivity has been analysed using personality inventory questionnaires. Analysis of these data lead to the suggestion that impulsivity as commonly defined and understood may be made up of several independent factors, which may have separate biological bases. These self-rating questionnaires have been complemented by objective tests that are now often computerized, and which have been used in man (e.g. with criminal offenders, children, or patients who have undergone brain surgery). Some of these tests, such as the differential reinforcement of low rates procedure or the delay of reinforcement procedure, have also been used to study impulsivity in animals. Analysis of the behavioural principles of these tests suggests that they too may reflect different aspects of impulsivity. Many different biological systems have been proposed to contribute to the neurobiological basis of impulsivity. The serotonergic neurotransmitter system has recently received the most attention, with evidence of its involvement coming from animal studies as well as from studies in psychiatric patients. The frontal lobes have been proposed to play an important role in regulating impulsivity, although it unclear how specific this is. None of this biological knowledge has yet led to reliable pharmacotherapy for excessive impulsivity and, as yet, there is

  14. Impulsivity: a discussion of clinical and experimental findings.

    PubMed

    Evenden, J

    1999-01-01

    Impulsivity can often be an important clinical problem in psychiatry and neurology. In psychiatry, the manifestation of impulsive behaviour in syndromes such as personality disorders, attention deficit hyperactivity disorder and in substance abuse may be different, and this has led to conflicting definitions. There has also been a tendency to concentrate on the nature of the behavioural manifestation (problems with the law, aggression, drug use, behavioural problems in school) rather than shared psychological processes, and to ignore the fact that impulsivity can also have positive aspects. In a normal population, the personality trait of impulsivity has been analysed using personality inventory questionnaires. Analysis of these data lead to the suggestion that impulsivity as commonly defined and understood may be made up of several independent factors, which may have separate biological bases. These self-rating questionnaires have been complemented by objective tests that are now often computerized, and which have been used in man (e.g. with criminal offenders, children, or patients who have undergone brain surgery). Some of these tests, such as the differential reinforcement of low rates procedure or the delay of reinforcement procedure, have also been used to study impulsivity in animals. Analysis of the behavioural principles of these tests suggests that they too may reflect different aspects of impulsivity. Many different biological systems have been proposed to contribute to the neurobiological basis of impulsivity. The serotonergic neurotransmitter system has recently received the most attention, with evidence of its involvement coming from animal studies as well as from studies in psychiatric patients. The frontal lobes have been proposed to play an important role in regulating impulsivity, although it unclear how specific this is. None of this biological knowledge has yet led to reliable pharmacotherapy for excessive impulsivity and, as yet, there is

  15. Osteoarthritis in the elderly: clinical and radiological findings in 79 and 85 year olds.

    PubMed Central

    Bagge, E; Bjelle, A; Edén, S; Svanborg, A

    1991-01-01

    The prevalence of joint complaints and clinical and radiological findings of osteoarthritis in wrist, hand, and knee joints was studied in representative population subsamples of 79 and 85 year olds. Joint complaints, clinical findings of osteoarthritis, and radiographic osteoarthritis were more common in women. Age related differences in the prevalence of osteoarthritis were not found. Although there was a correlation between clinical signs of osteoarthritis and radiographic osteoarthritis, clinical signs were often present without radiographic evidence and moderate and severe radiographic osteoarthritis was often present without clinical signs. PMID:1888194

  16. Prevalence of clinical findings at examinations of young Swedish warmblood riding horses

    PubMed Central

    2013-01-01

    Background Soundness of an individual horse is important for animal welfare and owner economy. However, knowledge of health status in normal horse populations is limited due to lack of systematic health recordings. The aim of the investigation was to study the prevalence of veterinary clinical findings in 4-5-year-old Swedish warmblood riding horses, and their influence on overall health scores, where associations to future longevity has been indicated. Results The prevalence of clinical findings in 8,281 horses examined during 1983–2005 was studied according to a standardised protocol and related to overall health scores in linear statistical models. Effects of sex, age, examination event and changes over time were included. In total, 49% of the horses had clinical findings of medical health (MED), 42% in hooves (HOOF) and 74% of palpatory orthopaedic health (PALP). However, only 6%, 3% and 24% had moderate or severe findings, of MED, HOOF and PALP, respectively. Flexion test reactions were reported in 21% of the horses (5% moderate/severe), heavily influencing the overall score (H2). One fifth of these horses also had findings of unprovoked lameness while 83% had PALP findings (44% with moderate/severe findings). Acute clinical signs, i.e. heat or soreness, had a large influence on the H2 score but were rare, whereas more common clinical findings had smaller effects on overall health. Large variations in recorded health results were observed among events. A decrease in findings has occurred since 1983, in particular for PALP findings. Conclusions Results of occurrence and relevance of evaluated clinical findings could be used for advice on preventive actions to keep horses sound, and possibly for benchmarking, and genetic evaluation of health traits. The distinct effect of event on recorded clinical findings emphasises that further harmonisation of veterinary examinations are desirable. PMID:23597257

  17. Ellis-van Creveld syndrome with unusual oral and dental findings: A rare clinical entity.

    PubMed

    Shaik, Sameeulla; Raviraj, Jayam; Dirasantchu, Suresh; Venkata, Suman S

    2016-01-01

    Ellis-van Creveld (EVC) syndrome, a form of skeletal and chondroectodermal dysplasia, is an autosomal recessive disorder characterized by a tetrad of disproportionate dwarfism, postaxial polydactyly, ectodermal dysplasia, and heart defects. In the present article, we hereby present a case of a 13-year-old girl of Indian ethnicity with EVC syndrome with a remarkable number of classical oral and dental features, with unusual findings such as taurodontism and talons cusp. Such dental findings were reported in few cases only. Despite the fact that oral manifestations play an important role in the diagnosis of EVC, only a few detailed reports have been published in the dental literature. PMID:27076836

  18. Ellis-van Creveld syndrome with unusual oral and dental findings: A rare clinical entity.

    PubMed

    Shaik, Sameeulla; Raviraj, Jayam; Dirasantchu, Suresh; Venkata, Suman S

    2016-01-01

    Ellis-van Creveld (EVC) syndrome, a form of skeletal and chondroectodermal dysplasia, is an autosomal recessive disorder characterized by a tetrad of disproportionate dwarfism, postaxial polydactyly, ectodermal dysplasia, and heart defects. In the present article, we hereby present a case of a 13-year-old girl of Indian ethnicity with EVC syndrome with a remarkable number of classical oral and dental features, with unusual findings such as taurodontism and talons cusp. Such dental findings were reported in few cases only. Despite the fact that oral manifestations play an important role in the diagnosis of EVC, only a few detailed reports have been published in the dental literature.

  19. Ellis–van Creveld syndrome with unusual oral and dental findings: A rare clinical entity

    PubMed Central

    Shaik, Sameeulla; Raviraj, Jayam; Dirasantchu, Suresh; Venkata, Suman S.

    2016-01-01

    Ellis–van Creveld (EVC) syndrome, a form of skeletal and chondroectodermal dysplasia, is an autosomal recessive disorder characterized by a tetrad of disproportionate dwarfism, postaxial polydactyly, ectodermal dysplasia, and heart defects. In the present article, we hereby present a case of a 13-year-old girl of Indian ethnicity with EVC syndrome with a remarkable number of classical oral and dental features, with unusual findings such as taurodontism and talons cusp. Such dental findings were reported in few cases only. Despite the fact that oral manifestations play an important role in the diagnosis of EVC, only a few detailed reports have been published in the dental literature. PMID:27076836

  20. The classical versus the Cabrera presentation system for resting electrocardiography: Impact on recognition and understanding of clinically important electrocardiographic changes.

    PubMed

    Lam, Anny; Wagner, Galen S; Pahlm, Olle

    2015-01-01

    The classical system for presentation of the 12-lead electrocardiogram (ECG) reflects the electrical activity of the heart as viewed in the transverse plane by 6 leads with a single anatomically ordered sequence, V1-V6; but in the frontal plane by 6 leads with dual sequences, I, II, and III, and aVR, aVL, and aVF. However, there is also a single anatomically ordered sequence of leads, called the Cabrera display that presents the six frontal plane leads in their anatomically ordered sequence of: aVL, I, -aVR, II, aVF, and III. Although it has been recognized that the Cabrera system has clinical diagnostic advantages compared to the classical display, it is currently only used in Sweden. The primary explanation of why the Cabrera system has not been adopted internationally has been that analog ECG recorders had technical limitations. Currently, however, the classical system is most often seen as a historical remnant that prevails because of conservatism within the cardiology community.

  1. Clinically and/or Serologically Misleading Findings Surrounding Immune Haemolytic Anaemias.

    PubMed

    Salama, Abdulgabar

    2015-09-01

    Autoimmune haemolytic anaemias (AIHAs) are well-characterized disorders. They can be differentiated from one another and from other non-immune haemolytic anaemias by clinical, laboratory and serological testing. However, several misleading clinical presentations and/or serological findings may result in misinterpretation, delay and/or misdiagnosis. Such failures are avoidable by adequate clinical and serological experience of the responsible physicians and serologists or, at least, by an optimised bidirectional communication. As long as this has not been achieved, unpleasant failures are to be expected. A true diagnosis of AIHA can neither be verified by clinical nor serological findings alone. Thus, a collective clinical and serological picture remains obligatory for fulfilling the criteria of optimal diagnosis and therapy. Ultimately, the majority of pioneer scientific and practical work in this field stems from scientists who were simultaneously involved in both the clinic and serology.

  2. Pressure ulcer prevention and treatment: transforming research findings into consensus based clinical guidelines.

    PubMed

    Lewis, Matthew; Pearson, Alan; Ward, Cathy

    2003-04-01

    The translation of research findings into practice guidelines is an important aspect in maintaining the currency of practice and adding value to research. While there has been a large amount of published literature regarding the treatment and prevention of pressure ulcers, very few studies have attempted to provide clear clinical guidelines. The present study proposes a model to transform research into clinical guidelines whilst developing a series of guidelines that can be applied to a variety of clinical settings. PMID:12694478

  3. Clinical and oral findings in an Afro-Brazilian family with Gorlin-Goltz syndrome: case series and literature review.

    PubMed

    da Silva Pierro, Viviane Santos; Marins, Marcello Roter; Borges de Oliveira, Renata Cabral; Cortezzi, Wladimir; Janini, Maria Elisa; Maia, Lucianne Cople

    2015-01-01

    Gorlin-Goltz syndrome (GGS) seems to be unusual in black persons. The authors present an Afro-Brazilian family case report of GGS. The main complaint of the index case was a painless swelling of the left mandible, which was diagnosed as an odontogenic keratocyst. Further classical features of the Syndrome were present in this patient. Other two family members were diagnosed as cases of GGS and one of them presented 11 clinical findings characteristic of the syndrome. From the three cases reported, two of them presented five major diagnostic criteria for the GGS, and the diagnosis was only made because of an oral complaint. This case series emphasizes the importance of carefully examining the patient and close relatives for signs of GGS, even if they belong to an ethnic group in which this diagnosis is unusual. PMID:25039802

  4. Evaluation of the modifying effects of unfavourable genotypes on classical clinical risk factors for ischaemic stroke

    PubMed Central

    Szolnoki, Z; Somogyvari, F; Kondacs, A; Szabo, M; Fodor, L; Bene, J; Melegh, B

    2003-01-01

    Objectives: Ischaemic stroke is a frequent heterogeneous multifactorial disease that is affected by a number of genetic mutations and environmental factors. We hypothesised the clinical importance of the interactions between common, unfavourable genetic mutations and clinical risk factors in the development of ischaemic stroke. Methods: The Factor V Leiden G1691A (Leiden V), the prothrombin G20210A, the methylenetetrahydrofolate reductase C677T (MTHFR C677T) mutations, the angiotensin converting enzyme I/D (ACE I/D), and apolipoprotein allele e4 (APO e4) genotypes were examined by the polymerase chain reaction (PCR) technique in 867 ischaemic stroke patients and 743 healthy controls. Logistic regression models were used to estimate the roles of the co-occurrences of the clinical risk factors and common genetic mutations in ischaemic stroke. Results: The Leiden V mutation in combination with hypertension or diabetes mellitus increased the risk of ischaemic stroke. We found synergistic effects between the ACE D/D and MTHFR 677TT genotypes and drinking or smoking. The presence of the APO e4 greatly facilitated the unfavourable effects of hypertension, diabetes mellitus, smoking, or drinking on the incidence of ischaemic stroke. Conclusion: In certain combinations, pairing of common unfavourable genetic factors, which alone confer only minor or non-significant risk, with clinical risk factors can greatly increase the susceptibility to ischaemic stroke. PMID:14638877

  5. Primary extranodal head and neck classical Hodgkin lymphoma: A rare clinical case report

    PubMed Central

    Men, Yongzhi; Sun, Xuemei; Wei, Daolin; Yu, Ziwei

    2016-01-01

    The subcutaneous soft tissue of the forehead is a rare anatomic site for Hodgkin lymphoma (HL), and no such case has previously been reported in the literature, to the best of our knowledge. HLs commonly present in the nodal regions in the majority of patients, rarely occurring in extranodal sites, whereas primary extranodal lymphoma is less common and is more typical in cases of non-HL. The present study reports a novel case of extranodal head and neck classical HL (cHL), initially diagnosed as frontal fibroma. The present study describes an unusual case of subcutaneous soft tissue involvement of HL, aiming to enhance current levels of awareness for patients with extranodal symptoms. A 25-year-old male, who inadvertently detected a hard painless mass above the right superciliary arch 2 months prior to admission in April 2013 was eventually diagnosed with mixed cellularity cHL. Subsequent to six cycles of doxorubicin (Adriamycin), bleomycin, vindesine and dacarbazine chemotherapy, followed by four cycles of ifosfamide, gemcitabine, vinorelbine and prednisone chemotherapy, a satisfactory curative effect was obtained. In conclusion, it is proposed that lymphoma should be considered in the differential diagnosis of a mass involving the subcutaneous soft tissue. PMID:27446312

  6. Clinical experience with the E-Systems Medical STATVIEW Classic and STATVIEW DX image network systems

    NASA Astrophysics Data System (ADS)

    Hefner, Lance V.; Guy, William L.

    1996-05-01

    The first installation of the `STATVIEW Classic' image network system from E-Systems Medical was at William Beaumont Hospital in December 1993. The installation was intended to support a new critical care tower. Three hundred critical care beds are served by this system, with ten display stations. The system uses non-proprietary hardware for image display and the display software runs in Microsoft Windows. The system consists of a Lumisys model 150 laser digitizer with necessary control equipment, a file server consisting of a IBM compatible 486SX computer with 500 Megabytes of storage, and display stations based on IBM compatible 486DX (66 MHz) computers with NEC 6FGp monitors. We decided to expand the system by purchasing the new Statview DX system from EMED. In August 1995, installation of a DICOM 3.0 image network, the `STATVIEW DX' from E-Systems Medical, was completed. Considerations which were important during the installation of the system and the response of the medical staff to the image network will be discussed.

  7. Diagnostic Value of Clinical Findings in Evaluation of Thoracolumbar Blunt Traumas

    PubMed Central

    Shahrami, Ali; Shojaee, Majid; Tabatabaee, Seyed Mohammadreza; Mianehsaz, Elaheh

    2016-01-01

    Introduction: Necessity of imaging for symptom-free conscious patients presented to emergency department (ED) following traumatic thoracolumbar spine injuries has been a matter of debate. The present study was aimed to evaluate the diagnostic value of clinical findings in prediction of traumatic thoracolumbar injuries compared tocomputed tomography (CT) scan. Methods: The present diagnostic value study was carried out using non-random convenience sampling during the time between October 2013 and March 2014. All trauma patients > 15 years old underwent thoracolumbar CT scan were included. Correlation between clinical and CT findings was measured using SPSS 21.0 and screening performance characteristics of clinical findings in prediction of thoracolumbar fracture were calculated. Results: 169 patients with mean age of 37.8 ± 17.3 years (rage: 15-86) were evaluated (69.8% male). All fracture patients had at least 1 positive finding in history and physical examination. The fracture was confirmed in only 24.6% of the patients with positive findings in history or physical examination. In 37.5% of patients the location of fracture, matched the area of positive physical examinations. Sensitivity, specificity, PPV, NPV, PLR, and NLR of clinical findings in comparison to thoracolumbar CT scan were 100 (95% CI: 89 - 100), 1.5 (95% CI: 0.2-6), 24.5 (95% CI: 18.3-31.9), 100 (95% CI: 19.7-100), 32.5 (95% CI: 24.6-43.03), and infinite, respectively. Conclusion: The results of the present study, show the excellent screening performance characteristics of clinical findings in prediction of traumatic thoracolumbar fracture (100% sensitivity). It could be concluded that in conscious patients with stable hemodynamic, who have no distracting pain and are not intoxicated, probability of thoracolumbar fracture is very low and near to zero in case of no positive clinical finding. PMID:27299140

  8. Clinical evaluation and grading practices in schools of nursing: national survey findings part II.

    PubMed

    Oermann, Marilyn H; Yarbrough, Suzanne S; Saewert, Karen J; Ard, Nell; Charasika, Margie E

    2009-01-01

    To better understand how nurse educators evaluate and grade students' clinical practice, the Evaluation of Learning Advisory Council of the National League for Nursing conducted a survey of faculty (N = 1,573) in all types of prelicensure RN programs. This article describes the findings of that survey in relation to clinical evaluation and grading clinical practice. Nearly all faculty used a clinical evaluation tool to rate students' performance in the clinical setting (n = 1,534, 98 percent); most programs had the same basic tool in all courses, but modified to reflect the unique aspects of each course (n = 1,095, 70 percent). Faculty (n = 1,116, 83 percent) reported using pass/fail for grading in clinical courses rather than a letter or numerical grade.

  9. Mining a clinical data warehouse to discover disease-finding associations using co-occurrence statistics.

    PubMed

    Cao, Hui; Markatou, Marianthi; Melton, Genevieve B; Chiang, Michael F; Hripcsak, George

    2005-01-01

    This paper applies co-occurrence statistics to discover disease-finding associations in a clinical data warehouse. We used two methods, chi2 statistics and the proportion confidence interval (PCI) method, to measure the dependence of pairs of diseases and findings, and then used heuristic cutoff values for association selection. An intrinsic evaluation showed that 94 percent of disease-finding associations obtained by chi2 statistics and 76.8 percent obtained by the PCI method were true associations. The selected associations were used to construct knowledge bases of disease-finding relations (KB-chi2, KB-PCI). An extrinsic evaluation showed that both KB-chi2 and KB-PCI could assist in eliminating clinically non-informative and redundant findings from problem lists generated by our automated problem list summarization system.

  10. Mining a clinical data warehouse to discover disease-finding associations using co-occurrence statistics

    PubMed Central

    Cao, Hui; Markatou, Marianthi; Melton, Genevieve B.; Chiang, Michael F.; Hripcsak, George

    2005-01-01

    This paper applies co-occurrence statistics to discover disease-finding associations in a clinical data warehouse. We used two methods, χ2 statistics and the proportion confidence interval (PCI) method, to measure the dependence of pairs of diseases and findings, and then used heuristic cutoff values for association selection. An intrinsic evaluation showed that 94 percent of disease-finding associations obtained by χ2 statistics and 76.8 percent obtained by the PCI method were true associations. The selected associations were used to construct knowledge bases of disease-finding relations (KB-χ2, KB-PCI). An extrinsic evaluation showed that both KB-χ2 and KB-PCI could assist in eliminating clinically non-informative and redundant findings from problem lists generated by our automated problem list summarization system. PMID:16779011

  11. Correlation between clinical presentation and urodynamic findings in women attending urogynecology clinic

    PubMed Central

    Pandey, Deeksha; Anna, Gasser; Hana, Ottenschlaeger; Christian, Fuenfgeld

    2013-01-01

    Introduction: Urodynamic studies objectively observe lower urinary tract function and dysfunction so that an appropriate treatment can be planned. In the present study, we tried to evaluate the role of urodynamic studies in the final diagnosis and management plan in patients attending an urogynecology clinic. Materials and Methods: This observational study was conducted in an urogynecology clinic. 202 women were included. After detailed history, pelvic examination and introital sonography these women were subjected to urodynamic study. During the filling cystometry detrusor activity, first desire to void and bladder capacity was recorded. This was followed by urethral pressure measurements, when functional urethral length, maximum urethral closure pressure and stress urethral pressure profile was recorded. Results: Most prevalent complaint was mixed urinary incontinence (33.17%), followed by stress incontinence (31.68%) and urge incontinence (13.37%). According to the standard urodynamic definition 66.33% were normal in the population studied. None of the urodynamic parameters individually or in combination were found to be very useful for establishing a diagnosis. Conclusion: Establishment of the final diagnosis of urinary incontinence and planning of management should be based on detailed history, physical examination, bladder diaries, and careful interpretation of urodynamic data. Urodynamic study; however, doesn’t seem to be imperative to establish a diagnosis in uncomplicated cases where symptoms and signs are reliable and correlating. PMID:24672187

  12. Incidence, clinical features and para-clinical findings of achalasia in Algeria: Experience of 25 years

    PubMed Central

    Tebaibia, Amar; Boudjella, Mohammed Amine; Boutarene, Djamel; Benmediouni, Farouk; Brahimi, Hakim; Oumnia, Nadia

    2016-01-01

    AIM To investigate the incidence of achalasia in Algeria and to determine its clinical and para-clinical profile. To evaluate the impact of continuing medical education (CME) on the incidence of this disease. METHODS From 1990 to 2014, 1256 patients with achalasia were enrolled in this prospective study. A campaign of CME on diagnosis involving different regions of the country was conducted between 1999 and 2003. Annual incidence and prevalence were calculated by relating the number of diagnosed cases to 105 inhabitants. Each patient completed a standardized questionnaire, and underwent upper endoscopy, barium swallow and esophageal manometry. We systematically looked for Allgrove syndrome and familial achalasia. RESULTS The mean annual incidence raised from 0.04 (95%CI: 0.028-0.052) during the 1990s to 0.27/105 inhabitants/year (95%CI: 0.215-0.321) during the 2000s. The incidence of the disease was two and half times higher in the north and the center compared to the south of the country. One-hundred-and-twenty-nine (10%) were children and 97 (7.7%) had Allgrove syndrome. Familial achalasia was noted in 18 different families. Patients had dysphagia (99%), regurgitation (83%), chest pain (51%), heartburn 24.5% and weight loss (70%). The lower esophageal sphincter was hypertensive in 53% and hypotensive in 0.6%. CONCLUSION The mean incidence of achalasia in Algeria is at least 0.27/105 inhabitants. A good impact on the incidence of CME was noted. A gradient of incidence between different regions of the country was found. This variability is probably related to genetic and environmental factors. The discovery of an infantile achalasia must lead to looking for Allgrove syndrome and similar cases in the family. PMID:27784974

  13. Presumed prepatellar fibrosis in collegiate wrestlers: imaging findings and clinical correlation.

    PubMed

    Northam, Meredith C; Gaskin, Cree M

    2015-02-01

    Knee pain and injury are common complaints of athletes presenting to the orthopedic clinic. Wrestlers are no exception, and may present more commonly with anterior knee pain because of the nature of their sport. Morel-Lavallée lesions and prepatellar bursitis have been described in the prepatellar region of wrestlers. We report a distinctly different prepatellar finding on MRI, focally prominent and discrete fibrosis in three collegiate wrestlers. This characteristic appearance and clinical setting have already been repeated in our clinical practice; thus, other MRI readers are also likely to encounter this finding, which in our experience can be considered a "don't touch" lesion of no clinical significance. PMID:24997159

  14. Peripheral blood absolute lymphocyte/monocyte ratio recovery during ABVD treatment cycles predicts clinical outcomes in classical Hodgkin lymphoma.

    PubMed

    Porrata, L F; Ristow, K M; Habermann, T M; Macon, W R; Witzig, T E; Colgan, J P; Inwards, D J; Ansell, S M; Micallef, I N; Johnston, P B; Nowakowski, G; Thompson, C A; Markovic, S N

    2013-01-01

    The peripheral blood absolute lymphocyte/monocyte count ratio at diagnosis (ALC/AMC-DX) predicts survival in classical Hodgkin lymphoma (cHL). However, a limitation of the ALC/AMC-DX is the inability to assess sequentially the host/tumor interaction during treatment. Therefore, we retrospectively examined the ALC/AMC ratio, as a surrogate marker of host immunity (ALC) and tumor microenvironment (AMC), at each adriamycin, bleomycin, vinblastine and dacarbazine treatment cycle as a predictor for clinical outcomes. From 1990 until 2008, 190 cHL patients were diagnosed, treated and followed at Mayo Clinic Rochester and qualified for the study. The ALC/AMC ratio at each treatment cycle was a predictor for overall survival (OS) and progression-free survival (PFS). An ALC/AMC ratio 1.1 versus ALC/AMC <1.1 during treatment cycles was an independent predictor for OS (hazard ratio (HR)=0.14; 95% confidence interval (CI): 0.04-0.40; P<0.0002) and for PFS (HR=0.19; 95% CI: 0.05-0.82; P<0.03). The ALC/AMC ratio during treatment cycles is a predictor for survival and provides a platform to develop therapeutic modalities to manipulate the ALC/AMC ratio during chemotherapy to improve clinical outcomes in cHL.

  15. Expression of classical HLA class I molecules: regulation and clinical impacts: Julia Bodmer Award Review 2015.

    PubMed

    René, C; Lozano, C; Eliaou, J-F

    2016-05-01

    Human leukocyte antigen (HLA) class I genes are ubiquitously expressed, but in a tissue specific-manner. Their expression is primarily regulated at the transcriptional level and can be modulated both positively and negatively by different stimuli. Advances in sequencing technologies led to the identification of new regulatory variants located in the untranslated regions (UTRs), which could influence the expression. After a brief description of the mechanisms underlying the transcriptional regulation of HLA class I genes expression, we will review how the expression levels of HLA class I genes could affect biological and pathological processes. Then, we will discuss on the differential expression of HLA class I genes according to the locus, allele and UTR polymorphisms and its clinical impact. This interesting field of study led to a new dimension of HLA typing, going beyond a qualitative aspect.

  16. Expression of classical HLA class I molecules: regulation and clinical impacts: Julia Bodmer Award Review 2015.

    PubMed

    René, C; Lozano, C; Eliaou, J-F

    2016-05-01

    Human leukocyte antigen (HLA) class I genes are ubiquitously expressed, but in a tissue specific-manner. Their expression is primarily regulated at the transcriptional level and can be modulated both positively and negatively by different stimuli. Advances in sequencing technologies led to the identification of new regulatory variants located in the untranslated regions (UTRs), which could influence the expression. After a brief description of the mechanisms underlying the transcriptional regulation of HLA class I genes expression, we will review how the expression levels of HLA class I genes could affect biological and pathological processes. Then, we will discuss on the differential expression of HLA class I genes according to the locus, allele and UTR polymorphisms and its clinical impact. This interesting field of study led to a new dimension of HLA typing, going beyond a qualitative aspect. PMID:27060357

  17. A Systematic Review on the Designs of Clinical Technology: Findings and Recommendations for Future Research

    PubMed Central

    PhD, Greg Alexander; Staggers, Nancy

    2010-01-01

    Human factors (HF) studies are increasingly important as technology infuses into clinical settings. No nursing research reviews exist in this area. The authors conducted a systematic review on designs of clinical technology, 34 articles with 50 studies met inclusion criteria. Findings were classified into three categories based on HF research goals. The majority of studies evaluated effectiveness of clinical design; efficiency was fewest. Current research ranges across many interface types examined with no apparent pattern or obvious rationale. Future research should expand types, settings, participants; integrate displays; and expand outcome variables. PMID:19707093

  18. Pedunculated intraventricular subependymoma: Review of the literature and illustration of classical presentation through a clinical case

    PubMed Central

    Hernández-Durán, Silvia; Yeh-Hsieh, Tze-Yu; Salazar-Araya, Carlos

    2014-01-01

    Background: Subependymomas are rare benign, noninvasive tumors, classified by the World Health Organization as low grade neoplasms. International data estimate their frequency between 0.2% and 0.7% of the intracranial tumors, and they usually are an incidental finding in autopsies. Preferably located in the fourth ventricle, these tumors tend to become symptomatic when they cause hydrocephalous by obstructing cerebrospinal fluid circulation. Case Presentation: We present the case of a morbidly obese, hypertense, and diabetic patient, who presented with symptoms of gait ataxia, sphincter incontinence, and dysartria in relation to a pedunculated subependymoma in the left lateral ventricle. He underwent a biparietal craniotomy with a microscopic microsurgical approach, through which gross total resection was achieved. No perioperative complications ensued. Conclusions: Given their benign behavior and their excellent response to surgical treatment, subependymomas should be promptly diagnosed and surgically treated to avoid possible neurological damage when they become symptomatic. PMID:25101212

  19. Clinical holistic medicine: classic art of healing or the therapeutic touch.

    PubMed

    Ventegodt, Søren; Morad, Mohammed; Merrick, Joav

    2004-03-04

    Touching is often a forgotten part of medicine. The manual medicine or therapeutic touch (TT) is much more powerful than many modern, biomedically oriented physicians think. Pain and discomfort can be alleviated just by touching the sick area and in this way help the patient to be in better contact with the tissue and organs of their body. Lack of presence in the body seems to be connected with many symptoms that can be readily reversed simply by sensitive touch. When touch is combined with therapeutic work on mind and feelings, holistic healing seems to be facilitated and many problems can be solved in a direct and easy way in the clinic without drugs. This paper gives examples of the strength of manual medicine or therapeutic touch in its most simple form, and points to the power of physical contact between physician and his patient in the context of the theory and practice of holistic healing. Intimacy seems highly beneficial for the process of healing and it is very important to distinguish clearly between intimacy and sexuality for the physician and his patent to be able to give and receive touch without fear and without holding back emotionally.

  20. G6PD deficiency: a classic example of pharmacogenetics with on-going clinical implications.

    PubMed

    Luzzatto, Lucio; Seneca, Elisa

    2014-02-01

    That primaquine and other drugs can trigger acute haemolytic anaemia in subjects who have an inherited mutation of the glucose 6-phosphate dehydrogenase (G6PD) gene has been known for over half a century: however, these events still occur, because when giving the drug either the G6PD status of a person is not known, or the risk of this potentially life-threatening complication is under-estimated. Here we review briefly the genetic basis of G6PD deficiency, and then the pathophysiology and the clinical features of drug-induced haemolysis; we also update the list of potentially haemolytic drugs (which includes rasburicase). It is now clear that it is not good practice to give one of these drugs before testing a person for his/her G6PD status, especially in populations in whom G6PD deficiency is common. We discuss therefore how G6PD testing can be done reconciling safety with cost; this is once again becoming of public health importance, as more countries are moving along the pathway of malaria elimination, that might require mass administration of primaquine. Finally, we sketch the triangular relationship between malaria, antimalarials such as primaquine, and G6PD deficiency: which is to some extent protective against malaria, but also a genetically determined hazard when taking primaquine.

  1. G6PD deficiency: a classic example of pharmacogenetics with on-going clinical implications

    PubMed Central

    Luzzatto, Lucio; Seneca, Elisa

    2014-01-01

    That primaquine and other drugs can trigger acute haemolytic anaemia in subjects who have an inherited mutation of the glucose 6-phosphate dehydrogenase (G6PD) gene has been known for over half a century: however, these events still occur, because when giving the drug either the G6PD status of a person is not known, or the risk of this potentially life-threatening complication is under-estimated. Here we review briefly the genetic basis of G6PD deficiency, and then the pathophysiology and the clinical features of drug-induced haemolysis; we also update the list of potentially haemolytic drugs (which includes rasburicase). It is now clear that it is not good practice to give one of these drugs before testing a person for his/her G6PD status, especially in populations in whom G6PD deficiency is common. We discuss therefore how G6PD testing can be done reconciling safety with cost; this is once again becoming of public health importance, as more countries are moving along the pathway of malaria elimination, that might require mass administration of primaquine. Finally, we sketch the triangular relationship between malaria, antimalarials such as primaquine, and G6PD deficiency: which is to some extent protective against malaria, but also a genetically determined hazard when taking primaquine. PMID:24372186

  2. Traumatic Reticuloperitonitis in Water Buffalo (Bubalus bubalis): Clinical Findings and the Associated Inflammatory Response.

    PubMed

    El-Ashker, Maged; Salama, Mohamed; El-Boshy, Mohamed

    2013-01-01

    The present study was carried out to describe the clinical picture of traumatic reticuloperitonitis (TRP) in water buffalo (Bubalus bubalis) and to evaluate the inflammatory and immunologic responses for this clinical condition. Twenty-two buffalo with acute local TRP were monitored in our study. Additionally, 10 clinically healthy buffalo were randomly selected and served as controls. Acute local TRP was initially diagnosed by clinical examination and confirmed by ultrasonographic (USG) examination and/or necropsy findings. Blood samples were collected from all examined buffalo to measure the respective levels of tumor necrosis factor alpha (TNF-α), interleukin (IL)-1β, IL-6, IL-10 and interferon gamma (INF)-γ, serum amyloid A (SAA), C-reactive protein (CRP), haptoglobin (Hp), fibrinogen (Fb), and serum sialic acid (SSA). It was found that TNF-α, IL-1β, IL-6, IL-10, SAA, CRP, Hp, Fb, and SSA were significantly higher in buffalo with TRP than the controls. Our findings suggest that the examined immunologic variables were helpful in documenting the inflammatory response in buffalo with TRP. However, their diagnostic usefulness only becomes apparent when considered in tandem with the clinical findings for any given animal, its anamnesis, and a subsequent USG assessment. Due to the frequent complications of TRP, more accurate indicators of its occurrence and severity would be useful.

  3. Lack of political diversity and the framing of findings in personality and clinical psychology.

    PubMed

    Lilienfeld, Scott O

    2015-01-01

    I extend the arguments of Duarte et al. by examining the implications of political uniformity for the framing of findings in personality and clinical psychology. I argue that the one-sided framing of psychological research on political ideology has limited our understanding of the personality correlates of liberalism and conservatism.

  4. Respecting Patient Autonomy in Clinical Genomics: New Recommendations on Incidental Findings Go Astray

    PubMed Central

    Wolf, Susan M.; Annas, George J.; Elias, Sherman

    2013-01-01

    In spite of the centrality of informed consent in clinical genetics and genomics, new recommendations from the American College of Medical Genetics and Genomics (ACMG) call for laboratories and clinicians to test for and report specific genetic incidental findings, even when the patient does not consent to the testing or disclosure and even when the patient is a child. PMID:23686341

  5. Similarities and Differences between Children with and without Disabilities on Identified Clinical Findings

    ERIC Educational Resources Information Center

    Reinke, Diane C.

    2005-01-01

    This study was conducted to examine the types and proportions of identified clinical findings among children with and without disabilities. Using data from the Canadian Incidence Study of Reported Child Abuse and Neglect (CIS), this study compared 7672 children aged 0 to 15 years (n=1067 with disabilities and n=6605 without disabilities) who were…

  6. Transjugular Intrahepatic Portosystemic Shunt Dysfunction: Concordance of Clinical Findings, Doppler Ultrasound Examination, and Shunt Venography

    PubMed Central

    Owen, Joshua M; Gaba, Ron Charles

    2016-01-01

    Objectives: The objective of this study was to evaluate the concordance between clinical symptoms, Doppler ultrasound (US), and shunt venography for the detection of stent-graft transjugular intrahepatic portosystemic shunt (TIPS) dysfunction. Materials and Methods: Forty-one patients (M:F 30:11, median age 55 years) who underwent contemporaneous clinical exam, Doppler US, and TIPS venography between 2003 and 2014 were retrospectively studied. Clinical symptoms (recurrent ascites or variceal bleeding) were dichotomously classified as present/absent, and US and TIPS venograms were categorized in a binary fashion as normal/abnormal. US abnormalities included high/low (>190 or <90 cm/s) TIPS velocity, significant velocity rise/fall (>50 cm/s), absent flow, and return of antegrade intra-hepatic portal flow. Venographic abnormalities included shunt stenosis/occlusion and/or pressure gradient elevation. Clinical and imaging concordance rates were calculated. Results: Fifty-two corresponding US examinations and venograms were assessed. The median time between studies was 3 days. Forty of 52 (77%) patients were symptomatic, 33/52 (64%) US examinations were abnormal, and 20/52 (38%) TIPS venograms were abnormal. Concordance between clinical symptoms and TIPS venography was 48% (25/52), while the agreement between US and shunt venography was 65% (34/52). Clinical symptoms and the US concurred in 60% (31/52) of the patients. The sensitivity of clinical symptoms and US for the detection of venographically abnormal shunts was 80% (16/20) and 85% (17/20), respectively. Both clinical symptoms and the US had low specificity (25%, 8/32 and 50%, 16/32) for venographically abnormal shunts. Conclusion: Clinical findings and the US had low concordance rates with TIPS venography, with acceptable sensitivity but poor specificity. These findings suggest the need for improved noninvasive imaging methods for stent-graft TIPS surveillance. PMID:27563495

  7. A Family with Axenfeld-Rieger Syndrome: Report of the Clinical and Genetic Findings

    PubMed Central

    Yang, Hee Jung; Lee, You Kyung; Joo, Choun-Ki; Moon, Jung Il; Mok, Jee Won

    2015-01-01

    Purpose To describe clinical findings in a Korean family with Axenfeld-Rieger syndrome. Methods A retrospective review of clinical data about patients with diagnosed Axenfeld-Rieger syndrome. Five affected members of the family underwent a complete ophthalmologic examination. We screened the forkhead box C1 gene and the pituitary homeobox 2 gene in patients. Peripheral blood leukocytes and buccal mucosal epithelial cells were obtained from seven members of a family with Axenfeld-Rieger syndrome. DNA was extracted and amplified by polymerase chain reaction, followed by direct sequencing. Results The affected members showed iris hypoplasia, iridocorneal adhesions, posterior embryotoxon, and advanced glaucoma in three generation. None had systemic anomalies. Two mutations including c.1362_1364insCGG and c.1142_1144insGGC were identified in forkhead box C1 in four affected family members. Conclusions This study may help to understand clinical findings and prognosis for patients with Axenfeld-Rieger syndrome. PMID:26240509

  8. A Systematic Approach to Find a Professional Audiology Clinic: Patient-Based Information.

    PubMed

    Kim, Gungu; Kim, Gibbeum; Na, Wondo; Han, Woojae

    2016-09-01

    This brief communication introduced a systematic way to find a professional audiology clinic developed for patients and professionals by the American Academy of Audiology, American Speech-Language-Hearing Association, and Healthy Hearing. Patients can access each organization's website to find professionals and/or clinics based on criteria such as location, hours, special areas, types of service, reviews and rating by previous patients, and kinds of insurance accepted. Such a system may protect the patients from information overload, guarantee accurate information, and help them find themselves professional audiologists who can assist them. We expect professional organizations to adopt this system as soon as possible and link hearing-impaired patients with professional audiologists in Korea. PMID:27626086

  9. C5 and C6 human dermatomes: a clinical, electromyographical, imaging and surgical findings.

    PubMed

    Faleiros, Antonio Tadeu de Souza; Resende, Luiz Antonio de Lima; Zanini, Marco Antonio; Castro, Heloisa Amélia de Lima; Gabarra, Roberto Colichio

    2009-06-01

    There is substantial controversy in literature about human dermatomes. In this work, C5 and C6 superior limb dermatomes were studied. The method consisted of comparing clinical signs and symptoms with conduction studies, electromyographical data, neurosurgical findings, and imaging findings obtained by computerized tomography (CT) or magnetic resonance imaging (MRI), for each patient. Data analysis from superior members in 18 patients suggests that C5 is located in the lateral aspect of the shoulder and arm, and C6 in the lateral aspect of the forearm and 1st, 2nd, and 3rd fingers. To our knowledge this is the first time that C5 and C6 human dermatomes have been studied by all the following methods together: clinical, electromyographical, CT and MR imaging, and surgical findings.

  10. A Systematic Approach to Find a Professional Audiology Clinic: Patient-Based Information

    PubMed Central

    Kim, Gungu; Kim, Gibbeum; Na, Wondo

    2016-01-01

    This brief communication introduced a systematic way to find a professional audiology clinic developed for patients and professionals by the American Academy of Audiology, American Speech-Language-Hearing Association, and Healthy Hearing. Patients can access each organization's website to find professionals and/or clinics based on criteria such as location, hours, special areas, types of service, reviews and rating by previous patients, and kinds of insurance accepted. Such a system may protect the patients from information overload, guarantee accurate information, and help them find themselves professional audiologists who can assist them. We expect professional organizations to adopt this system as soon as possible and link hearing-impaired patients with professional audiologists in Korea.

  11. A Systematic Approach to Find a Professional Audiology Clinic: Patient-Based Information.

    PubMed

    Kim, Gungu; Kim, Gibbeum; Na, Wondo; Han, Woojae

    2016-09-01

    This brief communication introduced a systematic way to find a professional audiology clinic developed for patients and professionals by the American Academy of Audiology, American Speech-Language-Hearing Association, and Healthy Hearing. Patients can access each organization's website to find professionals and/or clinics based on criteria such as location, hours, special areas, types of service, reviews and rating by previous patients, and kinds of insurance accepted. Such a system may protect the patients from information overload, guarantee accurate information, and help them find themselves professional audiologists who can assist them. We expect professional organizations to adopt this system as soon as possible and link hearing-impaired patients with professional audiologists in Korea.

  12. A Systematic Approach to Find a Professional Audiology Clinic: Patient-Based Information

    PubMed Central

    Kim, Gungu; Kim, Gibbeum; Na, Wondo

    2016-01-01

    This brief communication introduced a systematic way to find a professional audiology clinic developed for patients and professionals by the American Academy of Audiology, American Speech-Language-Hearing Association, and Healthy Hearing. Patients can access each organization's website to find professionals and/or clinics based on criteria such as location, hours, special areas, types of service, reviews and rating by previous patients, and kinds of insurance accepted. Such a system may protect the patients from information overload, guarantee accurate information, and help them find themselves professional audiologists who can assist them. We expect professional organizations to adopt this system as soon as possible and link hearing-impaired patients with professional audiologists in Korea. PMID:27626086

  13. Relationship between Dispositional Mindfulness and Substance Use: Findings from a Clinical Sample

    PubMed Central

    Bowen, Sarah; Enkema, Matthew C.

    2014-01-01

    There has been rapidly increasing interest over the past decade in the potential of mindfulness-based approaches to psychological and medical treatment, including a recent growth in the area of substance abuse. Thus, the relationship between trait mindfulness and substance use has been explored in several studies. Results, however, have been mixed. While several studies of college student populations have evinced positive correlations between levels of trait mindfulness and substance use, the opposite seems to be true in clinical samples, with multiple studies showing a negative association. The current study reviews research in both non-treatment seeking college students and in clinical samples, and examines the relationship between trait mindfulness and substance dependence in a clinical sample (N = 281). Further, the study assesses the moderating effect of avoidant coping that might explain the disparate findings in the clinical versus nonclinical samples. PMID:24290208

  14. Predictive value of clinical and laboratory findings in the diagnosis of the enteric fever.

    PubMed

    Kuvandik, Ceren; Karaoglan, Ilkay; Namiduru, Mustafa; Baydar, Ibrahim

    2009-01-01

    Although the definitive diagnosis of enteric fever requires the isolation of Salmonella enterica serotype typhi or paratyphi, the diagnosis is usually made according to clinical and laboratory findings. There is usually a diagnostic dilemma. The aim of this study was to determine the minimum required parameters that could be valuable in the diagnosis of enteric fever. A retrospective study was performed to compare the clinical and laboratory findings in 60 patients who proved to have enteric fever by cultures and 58 patients with non-enteric fever. Features independently predictive of enteric fever were assessed by multivariate logistic regression. Sensitivity, specificity and positive predictive and negative predictive values were estimated. Significant clinical features of enteric fever were hepatomegaly, splenomegaly, relative bradycardia, rose spots, leucopenia, trombocytopenia, eosinopenia and elevated AST level. Five of these features were found to be predictive for the diagnosis of enteric fever; splenomegaly, relative bradycardia, rose spots and trombocytopenia and elevated AST level. In conclusion, clinical and laboratory findings can help the clinician to diagnose enteric fever in the absence of microbiological confirmation. PMID:19382666

  15. Clinical needs finding: developing the virtual experience-a case study.

    PubMed

    Mittal, Vaishali; Thompson, Megan; Altman, Stuart M; Taylor, Peter; Summers, Alexander; Goodwin, Kelsey; Louie, Angelique Y

    2013-09-01

    We describe an innovative program at the University of California, Davis for students to engage in clinical needs finding. Using a team-based approach, students participated in clinical rotations to observe firsthand the needs of clinicians at the university affiliated medical center. The teams were asked to develop documentary-style videos to capture key experiences that would allow future viewers to use the videos as "virtual" clinical rotations. This was conceived as a strategy to allow students in prohibitively large classes, or students in programs at institutions without associated medical or veterinary school programs, to experience clinical rotations and perform needs assessments. The students' perspectives on the experience as well as instructor analysis of best practices for this type of activity are presented and discussed. We found that the internship experience was valuable to the students participating, by not only introducing the practice of needs finding but also increasing the students' confidence in the practice of engineering design and their ability to work independently. The videos produced were of such high quality that instructors from other institutions have requested copies for instructional use. Virtual clinical rotations through video experiences may provide a reasonable substitute for students who do not have the ability to participate in rotations in person. PMID:23483373

  16. Antimicrobial prescribing by dentists in Wales, UK: findings of the first cycle of a clinical audit.

    PubMed

    Cope, A L; Barnes, E; Howells, E P; Rockey, A M; Karki, A J; Wilson, M J; Lewis, M A O; Cowpe, J G

    2016-07-01

    Objective To describe the findings of the first cycle of a clinical audit of antimicrobial use by general dental practitioners (GDPs).Setting General dental practices in Wales, UK.Subjects and methods Between April 2012 and March 2015, 279 GDPs completed the audit. Anonymous information about patients prescribed antimicrobials was recorded. Clinical information about the presentation and management of patients was compared to clinical guidelines published by the Scottish Dental Clinical Effectiveness Programme (SDCEP).Results During the data collection period, 5,782 antimicrobials were prescribed in clinical encounters with 5,460 patients. Of these 95.3% were antibiotic preparations, 2.7% were antifungal agents, and 0.6% were antivirals. Of all patients prescribed antibiotics, only 37.2% had signs of spreading infection or systemic involvement recorded, and 31.2% received no dental treatment. In total, 79.2% of antibiotic, 69.4% of antifungal, and 57.6% of antiviral preparations met audit standards for dose, frequency, and duration. GDPs identified that failure of previous local measures, patient unwillingness or inability to receive treatment, patient demand, time pressures, and patients' medical history may influence their prescribing behaviours.Conclusions The findings of the audit indicate a need for interventions to support GDPs so that they may make sustainable improvements to their antimicrobial prescribing practices. PMID:27388087

  17. Clinical findings in children with congenital anomalies and misoprostol intrauterine exposure: a study of 38 cases

    PubMed Central

    Vendramini-Pittoli, Siulan; Guion-Almeida, Maria L.; Richieri-Costa, Antonio; Santos, Juliana M.; Kokitsu-Nakata, Nancy M.

    2013-01-01

    The authors describe the clinical findings of 38 children with congenital anomalies and misoprostol intrauterine exposure. This study included 38 cases, ascertained from case series of the Hospital of Rehabilitation of Craniofacial Anomalies from University of São Paulo, with evidence of intrauterine exposure to misoprostol in the first trimester of the pregnancy. Information about misoprostol intake and drug administration route was obtained through interviews with mothers. Clinical evaluation showed 18 individuals with facial phenotype compatible with Moebius syndrome; 11 individuals with multiple congenital anomalies; and nine individuals with nonsyndromic cleft lip and/or cleft palate. This study showed a widening of the phenotypic spectrum associated with misoprostol embryotoxicity.

  18. A Probabilistic Reasoning Method for Predicting the Progression of Clinical Findings from Electronic Medical Records

    PubMed Central

    Goodwin, Travis; Harabagiu, Sanda M.

    2015-01-01

    In this paper, we present a probabilistic reasoning method capable of generating predictions of the progression of clinical findings (CFs) reported in the narrative portion of electronic medical records. This method benefits from a probabilistic knowledge representation made possible by a graphical model. The knowledge encoded in the graphical model considers not only the CFs extracted from the clinical narratives, but also their chronological ordering (CO) made possible by a temporal inference technique described in this paper. Our experiments indicate that the predictions about the progression of CFs achieve high performance given the COs induced from patient records. PMID:26306238

  19. Clinical findings in children with congenital anomalies and misoprostol intrauterine exposure: a study of 38 cases.

    PubMed

    Vendramini-Pittoli, Siulan; Guion-Almeida, Maria L; Richieri-Costa, Antonio; Santos, Juliana M; Kokitsu-Nakata, Nancy M

    2013-12-01

    The authors describe the clinical findings of 38 children with congenital anomalies and misoprostol intrauterine exposure. This study included 38 cases, ascertained from case series of the Hospital of Rehabilitation of Craniofacial Anomalies from University of São Paulo, with evidence of intrauterine exposure to misoprostol in the first trimester of the pregnancy. Information about misoprostol intake and drug administration route was obtained through interviews with mothers. Clinical evaluation showed 18 individuals with facial phenotype compatible with Moebius syndrome; 11 individuals with multiple congenital anomalies; and nine individuals with nonsyndromic cleft lip and/or cleft palate. This study showed a widening of the phenotypic spectrum associated with misoprostol embryotoxicity. PMID:27625856

  20. Developing a Prototype System for Integrating Pharmacogenomics Findings into Clinical Practice

    PubMed Central

    Overby, Casey Lynnette; Tarczy-Hornoch, Peter; Kalet, Ira J.; Thummel, Kenneth E.; Smith, Joe W.; Fiol, Guilherme Del; Fenstermacher, David; Devine, Emily Beth

    2012-01-01

    Findings from pharmacogenomics (PGx) studies have the potential to be applied to individualize drug therapy to improve efficacy and reduce adverse drug events. Researchers have identified factors influencing uptake of genomics in medicine, but little is known about the specific technical barriers to incorporating PGx into existing clinical frameworks. We present the design and development of a prototype PGx clinical decision support (CDS) system that builds on existing clinical infrastructure and incorporates semi-active and active CDS. Informing this work, we updated previous evaluations of PGx knowledge characteristics, and of how the CDS capabilities of three local clinical systems align with data and functional requirements for PGx CDS. We summarize characteristics of PGx knowledge and technical needs for implementing PGx CDS within existing clinical frameworks. PGx decision support rules derived from FDA drug labels primarily involve drug metabolizing genes, vary in maturity, and the majority support the post-analytic phase of genetic testing. Computerized provider order entry capabilities are key functional requirements for PGx CDS and were best supported by one of the three systems we evaluated. We identified two technical needs when building on this system, the need for (1) new or existing standards for data exchange to connect clinical data to PGx knowledge, and (2) a method for implementing semi-active CDS. Our analyses enhance our understanding of principles for designing and implementing CDS for drug therapy individualization and our current understanding of PGx characteristics in a clinical context. Characteristics of PGx knowledge and capabilities of current clinical systems can help govern decisions about CDS implementation, and can help guide decisions made by groups that develop and maintain knowledge resources such that delivery of content for clinical care is supported. PMID:23741623

  1. Dose-schedule finding in phase I/II clinical trials using a Bayesian isotonic transformation

    PubMed Central

    Li, Yisheng; Bekele, B. Nebiyou; Ji, Yuan; Cook, John D.

    2015-01-01

    Summary A dose-schedule-finding trial is a new type of oncology trial in which investigators aim to find a combination of dose and treatment schedule that has a large probability of efficacy yet a relatively small probability of toxicity. We demonstrate that a major difference between traditional dose-finding and dose-schedule-finding trials is that while the toxicity probabilities follow a simple nondecreasing order in dose-finding trials, those of dose-schedule-finding trials may adhere to a matrix order. We show that the success of a dose-schedule-finding method requires careful statistical modeling and a sensible dose-schedule allocation scheme. We propose a Bayesian hierarchical model that jointly models the unordered probabilities of toxicity and efficacy, and apply a Bayesian isotonic transformation to the posterior samples of the toxicity probabilities, so that the transformed posterior samples adhere to the matrix order constraints. Based on the joint posterior distribution of the order-constrained toxicity probabilities and the unordered efficacy probabilities, we develop a dose-schedule-finding algorithm that sequentially allocates patients to the best dose-schedule combination under certain criteria. We illustrate our methodology through its application to a clinical trial in leukemia, and compare it to two alternative approaches. PMID:18563789

  2. Chinese Herbal Medicine for Functional Abdominal Pain Syndrome: From Clinical Findings to Basic Understandings.

    PubMed

    Liu, Tao; Wang, Ning; Zhang, Li; Zhong, Linda

    2016-01-01

    Functional abdominal pain syndrome (FAPS) is one of the less common functional gastrointestinal disorders. Conventional therapy has unsatisfactory response to it so people turn to Chinese medicine for help. Currently, we reviewed the whole picture of Chinese herbal medicine (CHM) clinical and basic application in the treatment of FAPS, especially the traditional Chinese medicine (TCM) syndrome, the single herb, and Chinese medicine formulae, thus to provide a solid base to further develop evidence-based study for this common gastrointestinal complaint in the future. We developed the search strategy and set the inclusion and exclusion criteria for article search. From the included articles, we totally retrieved 586 records according to our searching criteria, of which 16 were duplicate records and 291 were excluded for reasons of irrelevance. The full text of 279 articles was retrieved for detailed assessment, of which 123 were excluded for various reasons. The number one used single herb is Radix Ginseng. The most common syndrome was liver qi depression. The most frequently used classic formula was Si-Mo-Tang. This reflected the true situation of clinical practice of Chinese medicine practitioners and could be further systematically synthesized as key points of the therapeutic research for FAPS. PMID:27366194

  3. Chinese Herbal Medicine for Functional Abdominal Pain Syndrome: From Clinical Findings to Basic Understandings

    PubMed Central

    Liu, Tao; Wang, Ning

    2016-01-01

    Functional abdominal pain syndrome (FAPS) is one of the less common functional gastrointestinal disorders. Conventional therapy has unsatisfactory response to it so people turn to Chinese medicine for help. Currently, we reviewed the whole picture of Chinese herbal medicine (CHM) clinical and basic application in the treatment of FAPS, especially the traditional Chinese medicine (TCM) syndrome, the single herb, and Chinese medicine formulae, thus to provide a solid base to further develop evidence-based study for this common gastrointestinal complaint in the future. We developed the search strategy and set the inclusion and exclusion criteria for article search. From the included articles, we totally retrieved 586 records according to our searching criteria, of which 16 were duplicate records and 291 were excluded for reasons of irrelevance. The full text of 279 articles was retrieved for detailed assessment, of which 123 were excluded for various reasons. The number one used single herb is Radix Ginseng. The most common syndrome was liver qi depression. The most frequently used classic formula was Si-Mo-Tang. This reflected the true situation of clinical practice of Chinese medicine practitioners and could be further systematically synthesized as key points of the therapeutic research for FAPS. PMID:27366194

  4. Correlation between Clinical and Arthroscopic Findings in Meniscal Tear of Knee.

    PubMed

    Chowdhury, A Z; Tarik, M M; Kundu, I K; Hannan, M A; Sarwar, M G; Faisal, M A; Arifeen, K N; Debnath, B C

    2016-07-01

    The meniscus is the most commonly injured structure in the knee joint. Carefully performed clinical examination can give better diagnosis of meniscal tear. The aim of this study was to find out the correlation between clinical and arthroscopic findings in meniscal tear of knee. This cross sectional observational study was conducted in the Department of Orthopaedic Surgery, BSMMU, Dhaka from July 2012 to June 2014. Thirty patients of meniscal tear were selected as per inclusion and exclusion criteria. After proper evaluation and clinical examination of these patient arthroscopic examinations was done under spinal anesthesia. A total number of 30 patients were recruited in this study. Twenty seven (90%) patients were male and only 3(10%) were female. Mean±SD of age was 26.00±5.55 and range was 17-34 years. Out of 30 patients 19(63.3%) had right knee affected and the rest 11(36.7%) had left knee affected. It was found from clinical diagnosis that most of the patients had MM injury (73.4%) and LM injury was in 26.6% patients. From arthroscopic diagnosis we found most of the patients had multiple types of injury (40.0%) followed by 26.7% patents had isolated MM injury, 16.6% patients had isolated LM injury, 10.0% patients had other injuries like ACL, PCL or MCL and rest 6.7% patients had no injury at all. Sensitivity, specificity, PPV, NPV and accuracy of clinical diagnosis in diagnosis of MM injury were 94.4%, 58.3%, 77.3%, 87.5% and 80.0% respectively. Sensitivity, specificity, PPV, NPV and accuracy of clinical diagnosis in diagnosis of LM injury were 85.7%, 91.3%, 75.0%, 95.5% and 90.0% respectively. Clinical evaluation may diagnose meniscal tear accurately. PMID:27612898

  5. Clinical imaging findings in a girl with Hutchinson-Gilford progeria syndrome.

    PubMed

    Chen, C P; Lin, S P; Lin, D S; Liu, Y P; Hsu, L J; Wang, W

    2012-01-01

    We report an 82-year-old girl with premature aging, a karyotype of 46,XX and a de novo c.1824C>T mutation encoding p.G608G in the lamin A gene. The clinical features of accelerated aging and the molecular finding were consistent with the diagnosis of Hutchinson-Gilford progeria syndrome (HGPS). In this presentation, we demonstrate the radiological imaging findings of skeletal, oral and craniofacial phenotypes of abnormalities associated with HGPS. The oral and craniofacial abnormalities caused dental caries, severe malocclusion, and swallowing, feeding and speech problems. Dural calcification, and granulation in the ear drum and external ear canal were additionally observed.

  6. Couples Counseling in Alzheimer's Disease: Additional Clinical Findings from a Novel Intervention Study.

    PubMed

    Auclair, Ursula; Epstein, Cynthia; Mittelman, Mary

    2009-04-01

    This article describes the clinical findings of a study designed to assess the benefit of counseling for couples, one of whom is in the early stage of Alzheimer's disease (AD). We previously reported our findings based on the first 12 couples that enrolled in the study. Based on the treatment of 30 additional couples, we have refined our treatment strategy to include concepts of Gestalt Therapy and Transactional Analysis and identified prevalent issues of concern to this cohort. The study design has remained as described in the earlier article (Epstein et al., 2006), and has proven to be appropriate to meet the goals of this intervention as indicated by our clinical experience and feedback from the participating couples. Case vignettes demonstrate how to conduct the sessions so that the experience of each member of the dyad is validated, while acknowledging the differential impact of the disease on them. PMID:19865591

  7. Cardiac findings on non-gated chest computed tomography: A clinical and pictorial review.

    PubMed

    Kanza, Rene Epunza; Allard, Christian; Berube, Michel

    2016-02-01

    The use of chest computed tomography (CT) as an imaging test for the evaluation of thoracic pathology has significantly increased during the last four decades. Although cardiopulmonary diseases often overlap in their clinical manifestation, radiologists tend to overlook the heart while interpreting routine chest CT. Recent advances in CT technology have led to significant reduction of heart motion artefacts and now allow for the identification of several cardiac findings on chest CT even without electrocardiogram (ECG) gating. These observations range from simple curiosity to both benign and malignant discoveries, to life-threatening discoveries. We here present a clinical and radiologic review of common and less common cardiac findings discovered on non-gated chest CT in order to draw the attention of radiologists and referring physicians to these possibilities.

  8. Cardiac findings on non-gated chest computed tomography: A clinical and pictorial review.

    PubMed

    Kanza, Rene Epunza; Allard, Christian; Berube, Michel

    2016-02-01

    The use of chest computed tomography (CT) as an imaging test for the evaluation of thoracic pathology has significantly increased during the last four decades. Although cardiopulmonary diseases often overlap in their clinical manifestation, radiologists tend to overlook the heart while interpreting routine chest CT. Recent advances in CT technology have led to significant reduction of heart motion artefacts and now allow for the identification of several cardiac findings on chest CT even without electrocardiogram (ECG) gating. These observations range from simple curiosity to both benign and malignant discoveries, to life-threatening discoveries. We here present a clinical and radiologic review of common and less common cardiac findings discovered on non-gated chest CT in order to draw the attention of radiologists and referring physicians to these possibilities. PMID:26781150

  9. Comparison of I-gel with Classic Laryngeal Mask Airway Regarding the Ease of Use and Clinical Performance

    PubMed Central

    Arı, Dilek Erdoğan; Ar, Arzu Yıldırım; Karip, Ceren Şanlı; Siyahkoç, İncifer; Arslan, Ahmet Hakan; Akgün, Fatma Nur

    2015-01-01

    Objective I-gel is a new supraglottic airway device without an inflatable cuff. We aimed to compare I-gel and the classic laryngeal mask airway (LMA) regarding the ease of use and clinical performance in Turkish population. Methods Fifty American Society of Anesthesiologists (ASA) I–II patients were randomly allocated into two groups: Group I-gel and Group LMA. Insertion time and success in first attempt were recorded. Peak, plato and mean airway pressures, EtCO2, airway compliance and leak volume were periodically recorded during the operation. The presence of blood on device removal and postoperative sore throat were also assessed. Results The device insertion time in Group I-gel was shorter than that in Group LMA (21.00±4.15 vs. 30.40±12.17 s, p=0.001). The success rate in first attempt, peak, plato and mean airway pressures, EtCO2 and airway compliance did not differ between the groups. The leak volume was lower in Group I-gel 5 and 45 min after insertion (p=0.041 and p=0.027). The presence of blood on device removal and postoperative sore throat were similar in both groups. Conclusion I-gel may be a more advantageous supraglottic airway device compared with LMA. PMID:27366518

  10. Nevoid Basal Cell Carcinoma Syndrome - Clinical and Radiological Findings of Three Cases

    PubMed Central

    Ali, Ibrahim K; Karjodkar, Freny R; Sansare, Kaustubh; Salve, Prashant; Goyal, Shikha

    2016-01-01

    Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder, characterized by skeletal anomalies and multiple keratocystic odontogenic tumors of the jaws. The skeletal anomalies of this syndrome are mandibular prognathism, bossing of frontal and parietal bones, high-arched palate, and bifid rib. We report three cases with NBCCS, emphasizing the clinical and radiographic findings, the importance of the early diagnosis of NBCCS, and a preventive multidisciplinary approach in the management of NBCCS.

  11. Nevoid Basal Cell Carcinoma Syndrome - Clinical and Radiological Findings of Three Cases

    PubMed Central

    Ali, Ibrahim K; Karjodkar, Freny R; Sansare, Kaustubh; Salve, Prashant; Goyal, Shikha

    2016-01-01

    Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder, characterized by skeletal anomalies and multiple keratocystic odontogenic tumors of the jaws. The skeletal anomalies of this syndrome are mandibular prognathism, bossing of frontal and parietal bones, high-arched palate, and bifid rib. We report three cases with NBCCS, emphasizing the clinical and radiographic findings, the importance of the early diagnosis of NBCCS, and a preventive multidisciplinary approach in the management of NBCCS. PMID:27630800

  12. Current strategies and findings in clinically relevant post-translational modification-specific proteomics

    PubMed Central

    Pagel, Oliver; Loroch, Stefan; Sickmann, Albert; Zahedi, René P

    2015-01-01

    Mass spectrometry-based proteomics has considerably extended our knowledge about the occurrence and dynamics of protein post-translational modifications (PTMs). So far, quantitative proteomics has been mainly used to study PTM regulation in cell culture models, providing new insights into the role of aberrant PTM patterns in human disease. However, continuous technological and methodical developments have paved the way for an increasing number of PTM-specific proteomic studies using clinical samples, often limited in sample amount. Thus, quantitative proteomics holds a great potential to discover, validate and accurately quantify biomarkers in body fluids and primary tissues. A major effort will be to improve the complete integration of robust but sensitive proteomics technology to clinical environments. Here, we discuss PTMs that are relevant for clinical research, with a focus on phosphorylation, glycosylation and proteolytic cleavage; furthermore, we give an overview on the current developments and novel findings in mass spectrometry-based PTM research. PMID:25955281

  13. Classical swine fever in 6- and 11-week-old pigs: haematological and immunological parameters are modulated in pigs with mild clinical disease.

    PubMed

    Nielsen, Jens; Lohse, Louise; Rasmussen, Thomas Bruun; Uttenthal, Ase

    2010-12-01

    The severity of classical swine fever virus (CSFV) infection is believed to be determined by different factors, including the virulence of the strain as well as factors related to the host. In the present study, we infected 6- and 11-week-old pigs of unique sanitary status with CSFV strain Eystrup to elucidate the influence of age on virulence. In both age-groups, a mild clinical course correlated well with the gross-pathological findings at necropsy. The minor variations of clinical, pathological, haematological and immunological parameters between the various age-groups demonstrated that a time-span of approximately 1 month of age did not play a significant role for the severity of CSF disease in young, weaned pigs. The detailed analysis of various haematological and cellular immunological parameters proved to provide a valuable set of objective reference values for healthy control pigs and for pigs with mild clinical CSF disease. Despite that only mild disease occurred in the infected pigs, modulations of haematological and immunological parameters were observed. Depletion of B cell and a number of T cell populations in peripheral blood was observed in both age-groups, however, the changes being most pronounced in the 6-week-old pigs. In the infected pigs, but not in any of the controls, a population of large granulocytes (LG) developed in peripheral blood. The LG, which were demonstrated to be identical to low-density granulocytes, appeared before the development of viraemia. Therefore, we suggest detection of LDG to be used as an additional tool in early CSF diagnosis. The observation that pigs with a unique, high sanitary status only developed mild disease after infection with CSFV strain Eystrup emphasizes the important role of the host in the CSFV virulence puzzle.

  14. [Clinical findings and differential diagnosis in ketosis and hypocalcemia in sheep].

    PubMed

    Bickhardt, K; Henze, P; Ganter, M

    1998-11-01

    Clinical and laboratory examinations were carried out in a prospective study from 1978 to 1998 on 454 spontaneously diseased sheep of different breeds aged 2-8 years. Three groups of sheep were defined by plasma concentrations of 3-hydroxybutyrate (3-OHB) and calcium. 214 ewes suffered from ketosis (pregnancy toxaemia, 3-OHB > 1.6 mmol/l), 195 ewes and 5 rams suffered from hypocalcaemia (Ca < 2.0 mmol/l), and 40 ewes were sick with booth diseases simultaneously. Clinical findings differ only slightly in all three groups. In ketosis the time until the onset of clinical signs and the duration of the disease is somewhat longer, while locomotion disturbances are less severe than in hypocalcaemia and in the combination of both. In individual cases a differential diagnosis is not possible on the basis of clinical findings, and also acetonuria is not a reliable criterion. Therefore, a therapy is suggested to treat all three possible forms of disease: daily oral application of Na-propionate, Ca-lactate and K-chloride, and additional subcutanous injection of Ca-borogluconate, vitamin D3, alpha-Tocopherol and selenium at the beginning of the disease. Pathogenesis of both diseases are discussed, recommendations for feeding management are given.

  15. Temporomandibular joint osteoarthritis: cone beam computed tomography findings, clinical features, and correlations.

    PubMed

    Cömert Kiliç, S; Kiliç, N; Sümbüllü, M A

    2015-10-01

    The aim of this study was to determine the prevalence of and associations between clinical signs and symptoms and cone beam computed tomography (CBCT) findings of temporomandibular joint osteoarthritis (TMJ-OA). Seventy-six patients (total 117 TMJ) with osteoarthritis were included in this study. Clinical signs and symptoms and CBCT findings were reviewed retrospectively. A considerable decrease in mandibular motions and mastication efficiency, and considerable increase in joint sounds and general pain complaints were observed. The most frequent condylar bony changes were erosion (110 joints, 94.0%), followed by flattening (108 joints, 92.3%), osteophytes (93 joints, 79.5%), hypoplasia (22 joints, 18.8%), sclerosis (14 joints, 12.0%), and subchondral cyst (four joints, 3.4%). Flattening of the articular eminence and pneumatization were each observed in five joints. Forty-one patients had bilateral degeneration and 35 had unilateral degeneration. Hypermobility was detected in 47 degenerative joints. Masticatory efficiency was negatively correlated with both condylar flattening and sclerosis, and general pain complaints was positively correlated with condylar flattening. Condylar erosion, flattening, osteophytes, pain, joint sounds, reduced jaw movements, and worsened mastication were common findings in TMJ-OA in the present study. Poor correlations were found between osseous changes and clinical signs and symptoms of TMJ-OA. CBCT is a powerful diagnostic tool for the diagnosis of TMJ-OA. PMID:26194774

  16. Retroperitoneal cystic masses: CT, clinical, and pathologic findings and literature review.

    PubMed

    Yang, Dal Mo; Jung, Dong Hae; Kim, Hana; Kang, Jee Hee; Kim, Sun Ho; Kim, Ji Hye; Hwang, Hee Young

    2004-01-01

    Cystic lesions of the retroperitoneum can be classified as either neoplastic or nonneoplastic. Neoplastic lesions include cystic lymphangioma, mucinous cystadenoma, cystic teratoma, cystic mesothelioma, müllerian cyst, epidermoid cyst, tailgut cyst, bronchogenic cyst, cystic change in solid neoplasms, pseudomyxoma retroperitonei, and perianal mucinous carcinoma. Nonneoplastic lesions include pancreatic pseudocyst, nonpancreatic pseudocyst, lymphocele, urinoma, and hematoma. Because the clinical implications of and therapeutic strategies for retroperitoneal cystic masses vary depending on the cause, the ability to noninvasively differentiate between masses is important. Although there is substantial overlap of computed tomographic (CT) findings in various retroperitoneal cysts, some CT features, along with clinical characteristics, may suggest a specific diagnosis. CT may provide important information regarding lesion location, size, and shape; the presence and thickness of a wall; the presence of septa, calcifications, or fat; and involvement of adjacent structures. The most important clinical parameters include patient gender, age, symptoms, and clinical history. Familiarity with the CT and clinical features of various retroperitoneal cystic masses facilitates accurate diagnosis and treatment.

  17. Evaluation of a classical unani pharmacopeial formulation safoof-e-muhazzil in hyperlipidemia: A randomized, standard controlled clinical study

    PubMed Central

    Jahangir, Umar; Khan, Asim Ali; Kapoor, Prem; Jalees, Farhan; Urooj, Shaista

    2014-01-01

    Aim of the Study: The aim of the following study is to evaluate the efficacy and tolerability of a compound Unani formulation in hyperlipidemia on clinical and biochemical parameters. Materials and Methods: A total of 90 patients with total cholesterol level of 220 mg/dl and above were included. In Group ‘A’ thirty patients with total cholesterol 243.5 ± 5.294 mg/dl received Unani formulation safoof-e-muhazzil (SM) in its classical powder form 5 g twice daily orally, in Group ‘B’ thirty patients with total cholesterol 234 ± 3.822 mg/dl received the SM but in compressed tablet form in the same dosage and in Group ‘C’ 30 patients with total cholesterol 242.7 ± 5.563 mg/dl received atorvastatin 10 mg as a standard control. Follow-up was carried out on second, fourth and 6th week and patients were evaluated on clinical as well as biochemical parameters. Results: Group A before treatment had mean total cholesterol of 243.5 ± 5.294 mg/dl which decreased significantly after treatment to 225.6 ± 5.953 mg/dl (P < 0.001) with a percentage change of 7.35%. Group B had mean total cholesterol of 234 ± 3.822 mg/dl which was significantly reduced to 212.67 ± 3.94 mg/dl (P < 0.001) post-treatment with a percentage change of 9.11%. Control Group C having mean total cholesterol of 242.7 ± 5.563 mg/dl before treatment was significantly decreased to 178.73 ± 4.669 mg/dl (P < 0.001) post-treatment with a percentage change of 26.3%. Group A had significant relief 20.72% (P < 0.001) in fatigue, 16.09% (P > 0.5) relief in palpitation and 26.17% (P < 0.001) relief in dyspnea post-treatment. Group B fatigue decreased significantly by 18.14% (P < 0.01), palpitation by 22.91% (P < 0.01) and dyspnea by 20.46% (P < 0.01). In Group C a non-significant increase of 2.2% was observed in fatigue post-treatment, palpitation decreased by 10.22% non-significantly and dyspnea decreased significantly by 17.64% (P < 0.001). Results indicate that the test drug safely and effectively

  18. The BioFIND study: Characteristics of a clinically typical Parkinson's disease biomarker cohort

    PubMed Central

    Goldman, Jennifer G.; Alcalay, Roy N.; Xie, Tao; Tuite, Paul; Henchcliffe, Claire; Hogarth, Penelope; Amara, Amy W.; Frank, Samuel; Rudolph, Alice; Casaceli, Cynthia; Andrews, Howard; Gwinn, Katrina; Sutherland, Margaret; Kopil, Catherine; Vincent, Lona; Frasier, Mark

    2016-01-01

    ABSTRACT Background Identifying PD‐specific biomarkers in biofluids will greatly aid in diagnosis, monitoring progression, and therapeutic interventions. PD biomarkers have been limited by poor discriminatory power, partly driven by heterogeneity of the disease, variability of collection protocols, and focus on de novo, unmedicated patients. Thus, a platform for biomarker discovery and validation in well‐characterized, clinically typical, moderate to advanced PD cohorts is critically needed. Methods BioFIND (Fox Investigation for New Discovery of Biomarkers in Parkinson's Disease) is a cross‐sectional, multicenter biomarker study that established a repository of clinical data, blood, DNA, RNA, CSF, saliva, and urine samples from 118 moderate to advanced PD and 88 healthy control subjects. Inclusion criteria were designed to maximize diagnostic specificity by selecting participants with clinically typical PD symptoms, and clinical data and biospecimen collection utilized standardized procedures to minimize variability across sites. Results We present the study methodology and data on the cohort's clinical characteristics. Motor scores and biospecimen samples including plasma are available for practically defined off and on states and thus enable testing the effects of PD medications on biomarkers. Other biospecimens are available from off state PD assessments and from controls. Conclusion Our cohort provides a valuable resource for biomarker discovery and validation in PD. Clinical data and biospecimens, available through The Michael J. Fox Foundation for Parkinson's Research and the National Institute of Neurological Disorders and Stroke, can serve as a platform for discovering biomarkers in clinically typical PD and comparisons across PD's broad and heterogeneous spectrum. © 2016 The Authors. Movement Disorders published by Wiley Periodicals, Inc. on behalf of International Parkinson and Movement Disorder Society PMID:27113479

  19. Association of nailfold capillary changes with disease activity, clinical and laboratory findings in patients with dermatomyositis

    PubMed Central

    Shenavandeh, Saeedeh; Zarei Nezhad, Maryam

    2015-01-01

    Background: The present study aimed to investigate the Nailfold Capillaroscopy (NC) features of the patients with dermatomyositis (DM) and its correlation with their disease activity indices, physical findings, and laboratory results. Methods: The present cross-sectional study was conducted on 27 DM patients above 16 years old who had referred to an(there are 3 clinics not one) outpatient rheumatology clinics from 2012 to 2013. Nailfold capillaroscopy and calculation of disease activity indices were performed separately for all the patients by two rheumatologists who were blinded to each other's results. Statistical analyses were performed using chi-square and Mann-Whitney U tests. Results: The mean age of the patients was 39.2±14.1 years with the mean disease duration of 13.1±15.2 months (range: 1-72 months). Myopathic electromyography (EMG) findings showed a strong association with scleroderma pattern (p=0.015). However, disease activity in each organ system and global disease activity showed no significant association between scleroderma pattern and other NC findings. (Disease activity in each organ system and also global disease activity were both assessed to see if they are associated with scleroderma pattern and other NC findings so if we use between it means we are looking for an association between scleroderma pattern and other NC findings and this is not what we have done and is wrong.) Conclusion: This study revealed no significant relationship between disease activity indices and NC features. Thus, it may be more precise to interpret the results of NC in conjunction with other physical and laboratory findings. PMID:26793626

  20. Sex, Gender, and Pain: A Review of Recent Clinical and Experimental Findings

    PubMed Central

    Fillingim, Roger B.; King, Christopher D.; Ribeiro-Dasilva, Margarete C.; Rahim-Williams, Bridgett; Riley, Joseph L.

    2009-01-01

    Sex-related influences on pain and analgesia have become a topic of tremendous scientific and clinical interest, especially in the last 10 to 15 years. Members of our research group published reviews of this literature more than a decade ago, and the intervening time period has witnessed robust growth in research regarding sex, gender, and pain. Therefore, it seems timely to revisit this literature. Abundant evidence from recent epidemiologic studies clearly demonstrates that women are at substantially greater risk for many clinical pain conditions, and there is some suggestion that postoperative and procedural pain may be more severe among women than men. Consistent with our previous reviews, current human findings regarding sex differences in experimental pain indicate greater pain sensitivity among females compared with males for most pain modalities, including more recently implemented clinically relevant pain models such as temporal summation of pain and intramuscular injection of algesic substances. The evidence regarding sex differences in laboratory measures of endogenous pain modulation is mixed, as are findings from studies using functional brain imaging to ascertain sex differences in pain-related cerebral activation. Also inconsistent are findings regarding sex differences in responses to pharmacologic and non-pharmacologic pain treatments. The article concludes with a discussion of potential biopsychosocial mechanisms that may underlie sex differences in pain, and considerations for future research are discussed. Perspective This article reviews the recent literature regarding sex, gender, and pain. The growing body of evidence that has accumulated in the past 10 to 15 years continues to indicate substantial sex differences in clinical and experimental pain responses, and some evidence suggests that pain treatment responses may differ for women versus men. PMID:19411059

  1. [Examination of the knee joint. The value of clinical findings in arthroscopic control].

    PubMed

    Steinbrück, K; Wiehmann, J C

    1988-01-01

    Purely clinical examination of the knee joint can, at best, only be regarded as a "screening procedure". Diagnosis with the aid of apparatus (sonography, arthrography, CT, NMR) produces better results. However, arthroscopy performed by an experienced examiner confirms the diagnosis in cases of suspected meniscus injury or isolated lesions of the cruciate ligaments and leads to early and therefore optimal therapy. In a retrospective study 300 arthroscopies performed in 1985 were selected and evaluated. In 1986/87, a further 300 patients were clinically examined prospectively, according to the same criteria, and findings were compared with the arthroscopy performed the following day. Clinically, in 287 patients with multiple diagnoses, internal meniscus lesions were diagnosed in 162 cases (54%), external meniscus lesions in 38 (13%), chondropathia patellae in 54 (18%), and old ruptures of the cruciate ligaments in 46 (15%). In 13 patients no diagnosis could be established. Arthroscopically, pathology of the internal meniscus was found in 98 (33%) of the 300 patients, of the external meniscus in 40 (13%), cartilage damage in 103 (34%), old cruciate ligament ruptures in 51 (17%), and recent anterior cruciate ligament ruptures in 156 (52%); in 40 cases findings were normal. At 78%, the highest positive predictive value (proportion of tentative clinical diagnoses confirmed by arthroscopy) was found in cases of old ruptures of the anterior cruciate ligament, followed by external meniscus lesions (61%) and internal meniscus lesions (55%); i.e., only 55 out of 100 clinically suspected internal meniscus lesions are diagnosed by arthroscopy.(ABSTRACT TRUNCATED AT 250 WORDS)

  2. Clinical characteristics, cytogenetic and molecular findings in patients with disorders of sex development.

    PubMed

    Tian, Li; Chen, Ming; Peng, Jian-hong; Zhang, Jian-wu; Li, Li

    2014-02-01

    The clinical characteristics of patients with disorders of sex development (DSD), and the diagnostic values of classic cytogenetic and molecular genetic assays for DSD were investigated. In the enrolled 56 cases, there were 9 cases of 46,XY DSD, 6 cases of Turner syndrome (TS), one case of Super female syndrome, 25 cases of Klinefelter syndrome, 14 cases of 46,XX DSD, and one case of autosomal balanced rearrangements with hypospadias. The diagnosis of sex was made through physical examination, cytogenetic assay, ultrasonography, gonadal biopsy and hormonal analysis. PCR was used to detect SRY, ZFX, ZFY, DYZ3 and DYZ1 loci on Y and X chromosomes respectively. The DSD patients with the same category had similar clinical characteristics. The karyotypes in peripheral blood lymphocytes of all patients were identified. PCR-based analysis showed presence or absence of the X/Y-linked loci in several cases. Of the 9 cases of 46,XY DSD, 6 were positive for SRY, 9 for ZFX/ZFY, 9 for DYZ3 and 8 for DYZ1 loci. Of the 6 cases of TS, only 1 case with the karyotype of 45,X,/46,XX/46,XY was positive for all 5 loci. Of the 25 cases of Klinefelter syndrome, all were positive for all 5 loci. In one case of rare Klinefelter syndrome variants azoospermia factor (AZF) gene detection revealed the loss of the AZFa+AZFb region. In 14 cases of 46,XX DSD, 7 cases were positive for SRY, 14 for ZFX, 7 for ZFY, 7 for ZYZ3, and 5 for DYZ1. PCR can complement and also confirm cytogenetic studies in the diagnosis of sex in cases of DSD.

  3. Correlation Between Clinical Findings of Temporomandibular Disorders and MRI Characteristics of Disc Displacement

    PubMed Central

    Kumar, Raman; Pallagatti, Shambulingappa; Sheikh, Soheyl; Mittal, Amit; Gupta, Deepak; Gupta, Sonam

    2015-01-01

    Objectives : Temporomandibular joint (TMJ) dysfunction is a common condition that is best evaluated with magnetic resonance (MR) imaging. The first step in MR imaging of the TMJ is to evaluate the articular disk, or meniscus, in terms of its morphologic features and its location relative to the condyle in both closed- and open-mouth positions. Disk location is of prime importance because the presence of a displaced disk is a critical sign of TMJ dysfunction. However, disk displacement is also frequently seen in asymptomatic volunteers. It is important for the maxillofacial radiologist to detect early MR imaging signs of dysfunction, thereby avoiding the evolution of this condition to its advanced and irreversible phase which is characterized by osteoarthritic changes such as condylar flattening or osteophytes. Further the MR imaging techniques will allow a better understanding of the sources of TMJ pain and of any discrepancy between imaging findings and patient symptoms. Henceforth, the aim of the study was to evaluate whether MRI findings of various degrees of disk displacement could be correlated with the presence or absence of clinical signs and symptoms of temporomandibular disorders in symptomatic and asymptomatic subjects. Materials and Methods : In this clinical study, 44 patients (88 TMJs) were examined clinically and divided into two groups. Group 1 consisted of 22 patients with clinical signs and symptoms of TMDs either unilaterally or bilaterally and considered as study group. Group 2 consisted of 22 patients with no signs and symptoms of TMDs and considered as control group. MRI was done for both the TMJs of each patient. Displacement of the posterior band of articular disc in relation to the condyle was quantified as anterior disc displacement with reduction (ADDR), anterior disc displacement without reduction (ADDWR), posterior disc displacement (PDD). Results : Disk displacement was found in 18 (81.8%) patients of 22 symptomatic subjects in Group 1

  4. Ketosis in buffalo (Bubalus bubalis): clinical findings and the associated oxidative stress level.

    PubMed

    Youssef, Mohamed A; El-Khodery, Sabry Ahmed; El-deeb, Wael M; Abou El-Amaiem, Waleed E E

    2010-12-01

    As little is known about the oxidant/antioxidant status in buffalo with ketosis, the present study was delineated to assess the oxidative stress level associated with clinical ketosis in water buffalo. A total of 91 parturient buffalo at smallholder farms were studied (61 suspected to be ketotic and 30 healthy). Clinical and biochemical investigations were carried out for each buffalo. Based on clinical findings and the level of beta-hydroxybutyrate (BHB), buffalo were allocated into ketotic (42), subclinical cases (19). Clinically, there was an association between clinical ketosis and anorexia (p<0.001), constipation (p<0.001), decreased milk yield (p<0.001), ruminal stasis (p<0.001), and loss of body condition (p<0.01). Biochemically, in clinical ketosis compared with subclinical and control cases, there was a significant increase (p<0.05) of BHB, malondialdehyde (MDA), nitric oxide (NO), aspartate aminotransferase (AST), L-alanine aminotransferase (ALT). However, there was a significant decrease of glucose, phosphorus, magnesium,total cholesterol and HDL-cholesterol. There was a positive correlation between BHB and MDA (r=0.433), BHB and NO (r=0.37), MDA and NO (r=0.515), and Glucose and phosphorus(r=0.521). However, there was a negative correlation between BHB and glucose (r= -0.341) and HDL and NO (r= -0.379). The result of the present study indicates that hyperketonemia in buffalo is associated with an increase of oxidative stress levels. Further studies need to be done on the efficacy of antioxidants as an ancillary treatment to relief the oxidative stress caused by ketosis.

  5. A Clinical Service to Support the Return of Secondary Genomic Findings in Human Research.

    PubMed

    Darnell, Andrew J; Austin, Howard; Bluemke, David A; Cannon, Richard O; Fischbeck, Kenneth; Gahl, William; Goldman, David; Grady, Christine; Greene, Mark H; Holland, Steven M; Hull, Sara Chandros; Porter, Forbes D; Resnik, David; Rubinstein, Wendy S; Biesecker, Leslie G

    2016-03-01

    Human genome and exome sequencing are powerful research tools that can generate secondary findings beyond the scope of the research. Most secondary genomic findings are of low importance, but some (for a current estimate of 1%-3% of individuals) confer high risk of a serious disease that could be mitigated by timely medical intervention. The impact and scope of secondary findings in genome and exome sequencing will only increase in the future. There is considerable agreement that high-impact findings should be returned to participants, but many researchers performing genomic research studies do not have the background, skills, or resources to identify, verify, interpret, and return such variants. Here, we introduce a proposal for the formation of a secondary-genomic-findings service (SGFS) that would support researchers by enabling the return of clinically actionable sequencing results to research participants in a standardized manner. We describe a proposed structure for such a centralized service and evaluate the advantages and challenges of the approach. We suggest that such a service would be of greater benefit to all parties involved than present practice, which is highly variable. We encourage research centers to consider the adoption of a centralized SGFS. PMID:26942283

  6. A Clinical Service to Support the Return of Secondary Genomic Findings in Human Research

    PubMed Central

    Darnell, Andrew J.; Austin, Howard; Bluemke, David A.; Cannon, Richard O.; Fischbeck, Kenneth; Gahl, William; Goldman, David; Grady, Christine; Greene, Mark H.; Holland, Steven M.; Hull, Sara Chandros; Porter, Forbes D.; Resnik, David; Rubinstein, Wendy S.; Biesecker, Leslie G.

    2016-01-01

    Human genome and exome sequencing are powerful research tools that can generate secondary findings beyond the scope of the research. Most secondary genomic findings are of low importance, but some (for a current estimate of 1%–3% of individuals) confer high risk of a serious disease that could be mitigated by timely medical intervention. The impact and scope of secondary findings in genome and exome sequencing will only increase in the future. There is considerable agreement that high-impact findings should be returned to participants, but many researchers performing genomic research studies do not have the background, skills, or resources to identify, verify, interpret, and return such variants. Here, we introduce a proposal for the formation of a secondary-genomic-findings service (SGFS) that would support researchers by enabling the return of clinically actionable sequencing results to research participants in a standardized manner. We describe a proposed structure for such a centralized service and evaluate the advantages and challenges of the approach. We suggest that such a service would be of greater benefit to all parties involved than present practice, which is highly variable. We encourage research centers to consider the adoption of a centralized SGFS. PMID:26942283

  7. [Crime scene and criminal findings site of an unknown cadaver in the field: reconstruction based on traces and clinical findings].

    PubMed

    Rittner, C; Ogbuihi, S; Fink, T

    1997-01-01

    The case of a woman with schizophrenia is described who was found dead and nude in a field. To distinguish between a manslaughter, suicide, accident or natural death, details of the scene of death, and the autopsy findings were decisive. In addition, the patient's hospital report was consulted. PMID:9382687

  8. The Evaluation of the Clinical, Laboratory, and Radiological Findings of 16 Cases of Brucellar Spondylitis

    PubMed Central

    Yang, Baohui; Hu, Hongbo; Chen, Jie; He, Xijing

    2016-01-01

    Objective. To evaluate the clinical, laboratory, and radiological presentation of 16 cases of brucellar spondylitis. Methods. The clinical manifestations, laboratory tests, and imaging findings of 16 patients (aged from 24 to 66 years) with brucellar spondylitis treated between September 2012 and September 2014 at the Second Affiliated Hospital of Xi'an Jiaotong University (Xi'an, China) were retrospectively analyzed. Results. Clinical manifestations included high fever, severe pain, sweating, and fatigue. One patient had epididymitis, and two showed clear signs of spinal nerve damage. Laboratory tests showed elevated erythrocyte sedimentation rate (ESR) and C-reactive protein content. Serum brucella agglutination tests were positive, and 11 brucella blood cultures were positive. Imaging manifestations mainly consisted of abnormal signals in the intervertebral space or abnormal signals in the adjacent vertebral bodies (16/16, 100%) in magnetic resonance imaging (MRI), disc space narrowing (14/16, 88%) in X-ray and MRI, or bone destruction and sclerosis around the damaged zone (13/16, 81%) in computed tomography, with rare cases of psoas abscess (2/16, 13%) and sequestrum (1/16, 6%). Conclusion. Since brucellar spondylitis exhibited characteristic clinical and imaging manifestations, it could be diagnosed with specific laboratory tests. Early MRI examination of suspected cases could improve rapid diagnosis. PMID:27672661

  9. Inherited infantile dilated cardiomyopathy in dogs: genetic, clinical, biochemical, and morphologic findings.

    PubMed

    Alroy, J; Rush, J E; Freeman, L; Amarendhra Kumar, M S; Karuri, A; Chase, K; Sarkar, S

    2000-11-01

    Dilated cardiomyopathy, a lethal disease characterized by left ventricular dilation and systolic dysfunction, is relatively common in humans and other mammals. Idiopathic dilated cardiomyopathy (IDCM) is a primary myocardial disease of unknown cause and can be a familial disorder. This report describes autosomal recessive IDCM in dogs. It occurs in Portuguese Water Dog (PWD) pups and is manifested by acute, vague clinical signs and sudden death. Affected pups have progressive reduction of fractional shortening that can be demonstrated by echocardiography prior to the development of clinical signs. Furthermore, these pups have low plasma taurine levels when consuming certain diets. Affected pups had dilation of the left ventricle and alterations in the sarcomere appearance, while immunohistochemical and biochemical studies demonstrate an increase in desmin, a cytoskeleton protein. The clinical and morphologic findings of IDCM in PWDs are distinct from those reported in adult IDCM. Finally, the clinical and echocardiographic manifestations were reversible in some pups following oral taurine supplementation for 2 months. These results suggest that IDCM in PWDs is correlated with low plasma taurine levels.

  10. The Evaluation of the Clinical, Laboratory, and Radiological Findings of 16 Cases of Brucellar Spondylitis

    PubMed Central

    Yang, Baohui; Hu, Hongbo; Chen, Jie; He, Xijing

    2016-01-01

    Objective. To evaluate the clinical, laboratory, and radiological presentation of 16 cases of brucellar spondylitis. Methods. The clinical manifestations, laboratory tests, and imaging findings of 16 patients (aged from 24 to 66 years) with brucellar spondylitis treated between September 2012 and September 2014 at the Second Affiliated Hospital of Xi'an Jiaotong University (Xi'an, China) were retrospectively analyzed. Results. Clinical manifestations included high fever, severe pain, sweating, and fatigue. One patient had epididymitis, and two showed clear signs of spinal nerve damage. Laboratory tests showed elevated erythrocyte sedimentation rate (ESR) and C-reactive protein content. Serum brucella agglutination tests were positive, and 11 brucella blood cultures were positive. Imaging manifestations mainly consisted of abnormal signals in the intervertebral space or abnormal signals in the adjacent vertebral bodies (16/16, 100%) in magnetic resonance imaging (MRI), disc space narrowing (14/16, 88%) in X-ray and MRI, or bone destruction and sclerosis around the damaged zone (13/16, 81%) in computed tomography, with rare cases of psoas abscess (2/16, 13%) and sequestrum (1/16, 6%). Conclusion. Since brucellar spondylitis exhibited characteristic clinical and imaging manifestations, it could be diagnosed with specific laboratory tests. Early MRI examination of suspected cases could improve rapid diagnosis.

  11. Return of individual research results and incidental findings in the clinical trials cooperative group setting.

    PubMed

    Ferriere, Michael; Van Ness, Brian

    2012-04-01

    The National Cancer Institute (NCI)-funded cooperative group cancer clinical trial system develops experimental therapies and often collects samples from patients for correlative research. The cooperative group bank (CGB) system maintains biobanks with a current policy not to return research results to individuals. An online survey was created, and 10 directors of CGBs completed the surveys asking about understanding and attitudes in changing policies to consider return of incidental findings (IFs) and individual research results (IRRs) of health significance. The potential impact of the 10 consensus recommendations of Wolf et al. presented in this issue are examined. Reidentification of samples is often not problematic; however, changes to the current banking and clinical trial systems would require significant effort to fulfill an obligation of recontact of subjects. Additional resources, as well as a national advisory board would be required to standardize implementation.

  12. L4-L5-S1 human dermatomes: a clinical, electromyographical, imaging and surgical findings.

    PubMed

    Faleiros, Antonio Tadeu de Souza; Resende, Luiz Antonio de Lima; Zanini, Marco Antonio; Castro, Heloisa Amélia de Lima; Gabarra, Roberto Colichio

    2009-06-01

    There is substantial controversy in literature about human dermatomes. We studied L4, L5, and S1 inferior limb dermatomes by comparing clinical signs and symptoms with conduction studies, electromyographical data, neurosurgical findings, and imaging data from computerized tomography (CT) or magnetic resonance imaging (MRI). After analyzing 60 patients, we concluded that L4 is probably located in the medial aspect of the leg, L5 in the lateral aspect of the leg and foot dorsus, and S1 in the posterior aspect of the backside, tight, leg and plantar foot skin. This is the first time that these human dermatomes have been evaluated by combined analysis of clinical, electromyographical, neurosurgical, and imaging data.

  13. Maternal Clinical Findings in Malaria in Pregnancy in a Region of Northwestern Colombia

    PubMed Central

    Gabriel Piñeros, Juan; Tobon-Castaño, Alberto; Álvarez, Gonzalo; Portilla, Carmencita; Blair, Silvia

    2013-01-01

    In malaria-endemic regions of Latin America, little is known about malaria in pregnancy. To characterize the clinical and laboratory findings of maternal infection, we evaluated 166 cases of pregnant women infected with Plasmodium spp. in a prospective study conducted in northwestern Colombia during 2005–2006. A total of 89.8% (149 of 166) had fever or a history of fever in the past 48 hours, 9.0% (15 of 166) had severe malaria, of which 66.7% was caused by Plasmodium vivax and 33.3% by P. falciparum. Hepatic dysfunction was the main complication (9 of 15) observed. The proportion of severe cases was similar for both species (P = 0.41). In malaria-endemic areas of Colombia, malaria in pregnancy has a broad clinical spectrum. In pregnant women, P. vivax infection frequently leads to organ-specific complications. PMID:23897991

  14. Tetrasomy 18p: report of the molecular and clinical findings of 43 individuals.

    PubMed

    Sebold, Courtney; Roeder, Elizabeth; Zimmerman, Marsha; Soileau, Bridgette; Heard, Patricia; Carter, Erika; Schatz, Martha; White, W Abraham; Perry, Brian; Reinker, Kent; O'Donnell, Louise; Lancaster, Jack; Li, John; Hasi, Minire; Hill, Annice; Pankratz, Lauren; Hale, Daniel E; Cody, Jannine D

    2010-09-01

    Thus far, the phenotype of tetrasomy 18p has been primarily delineated by published case series and reports. Findings reported in more than 25% of these cases include neonatal feeding problems, growth retardation, microcephaly, strabismus, muscle tone abnormalities, scoliosis/kyphosis, and variants on brain MRI. Developmental delays and cognitive impairment are universally present. The purpose of this study was to more fully describe tetrasomy 18p at both the genotypic and the phenotypic levels. Array CGH was performed on 43 samples from individuals with tetrasomy 18p diagnosed via routine karyotype. The medical records of 42 of these 43 individuals were reviewed. In order to gain additional phenotypic data, 31 individuals with tetrasomy 18p underwent a series of clinical evaluations at the Chromosome 18 Clinical Research Center. Results from the molecular analysis indicated that 42 of 43 samples analyzed had 4 copies of the entire p arm of chromosome 18; one individual was also trisomic for a section of proximal 18q. The results of the medical records review and clinical evaluations expand the phenotypic description of tetrasomy 18p to include neonatal jaundice and respiratory distress; recurrent otitis media; hearing loss; seizures; refractive errors; constipation and gastroesophageal reflux; cryptorchidism; heart defects; and foot anomalies. Additional findings identified in a small number of individuals include hernias, myelomeningocele, kidney defects, short stature, and failure to respond to growth hormone stimulation testing. Additionally, a profile of dysmorphic features is described. Lastly, a series of clinical evaluations to be considered for individuals with tetrasomy 18p is suggested. PMID:20803640

  15. Radiographic superimposition and mandibular peripheral osteoma: the importance of clinical and CT findings.

    PubMed

    Boffano, Paolo; Gallesio, Cesare; Roccia, Fabio; Berrone, Sid

    2013-03-01

    Peripheral osteomas are benign, slow-growing osteogenic tumors that are caused by centrifugal growth of the periosteum and develop as masses attached to the cortical plates.The pathogenesis of osteomas is unclear, and embryologic, traumatic, inflammatory, metaplastic, and genetic causes have been proposed. A solitary peripheral osteoma of the jaws is uncommon.The purpose of this paper is to present a peculiar case of mandibular peripheral osteoma with a particular radiographic superimposition that stress the importance of clinical and CT findings.

  16. Late magnetic resonance imaging and clinical findings in neonates with unilateral lesions on cranial ultrasound.

    PubMed

    Bouza, H; Dubowitz, L M; Rutherford, M; Cowan, F; Pennock, J M

    1994-11-01

    Twenty-two neonates (11 term and 11 preterm) with predominantly unilateral hemispheric lesions on ultrasound were re-examined clinically and by magnetic resonance imaging (MRI) at between two and nine years of age. The aim was to correlate early ultrasound and late MRI findings with the development of hemiplegia. At follow-up, five children were normal and 15 had hemiplegia, which was mild in seven and moderate in 10. The presence or absence of hemiplegia, or its severity, could not be predicted from either early ultrasound or later MRI appearances. PMID:7958513

  17. Finding the common core: evidence-based practices, clinically relevant evidence, and core mechanisms of change.

    PubMed

    Sexton, Thomas L; Kelley, Susan Douglas

    2010-03-01

    Improving the quality of children's mental health care can benefit from the adoption of evidence based and evidence informed treatments. However, the promise of moving science into practice is hampered by three core elements that need to be addressed in the current conversation among key stakeholders: (1) expanding our understanding of the clinical relevance of different types of evidence, (2) emphasizing the identification of core mechanisms of change, and (3) re-conceptualizing what evidence-based practice means. This paper focuses on these elements in an attempt to find a common core among stakeholders that may create opportunities for more inclusive conversation to move the field of children's mental health care forward.

  18. Clinical and pathological findings of a Yorkshire terrier affected with necrotizing encephalitis.

    PubMed

    Sawashima, Y; Sawashima, K; Taura, Y; Shimada, A; Umemura, T

    1996-07-01

    A three-year-old, male Yorkshire terrier was presented with blindness, circling, hind limb weakness, and convulsive seizure for the past 3 months. Characteristic clinical findings were chronic, progressive neurological signs involving cerebrum and brain stem, an elevation of brain-type isoenzyme of serum creatine kinase, appearance of high voltage slow activity in electroencephalogram, and multifocal lesions in the cerebral hemispheres on magnetic resonance imaging. Necrotizing encephalitis of Yorkshire terrier was diagnosed after postmortem pathological examination. This is the first case report of the disease in Japan.

  19. Sarcoidosis in Native and Transplanted Kidneys: Incidence, Pathologic Findings, and Clinical Course

    PubMed Central

    Bagnasco, Serena M.; Gottipati, Srinivas; Kraus, Edward; Alachkar, Nada; Montgomery, Robert A.; Racusen, Lorraine C.; Arend, Lois J.

    2014-01-01

    Renal involvement by sarcoidosis in native and transplanted kidneys classically presents as non caseating granulomatous interstitial nephritis. However, the incidence of sarcoidosis in native and transplant kidney biopsies, its frequency as a cause of end stage renal disease and its recurrence in renal allograft are not well defined, which prompted this study. The electronic medical records and the pathology findings in native and transplant kidney biopsies reviewed at the Johns Hopkins Hospital from 1/1/2000 to 6/30/2011 were searched. A total of 51 patients with a diagnosis of sarcoidosis and renal abnormalities requiring a native kidney biopsy were identified. Granulomatous interstitial nephritis, consistent with renal sarcoidosis was identified in kidney biopsies from 19 of these subjects (37%). This is equivalent to a frequency of 0.18% of this diagnosis in a total of 10,023 biopsies from native kidney reviewed at our institution. Follow-up information was available in 10 patients with biopsy-proven renal sarcoidosis: 6 responded to treatment with prednisone, one progressed to end stage renal disease. Renal sarcoidosis was the primary cause of end stage renal disease in only 2 out of 2,331 transplants performed. Only one biopsy-proven recurrence of sarcoidosis granulomatous interstitial nephritis was identified. Conclusions Renal involvement by sarcoidosis in the form of granulomatous interstitial nephritis was a rare finding in biopsies from native kidneys reviewed at our center, and was found to be a rare cause of end stage renal disease. However, our observations indicate that recurrence of sarcoid granulomatous inflammation may occur in the transplanted kidney of patients with sarcoidosis as the original kidney disease. PMID:25329890

  20. [Biphasic mesothelioma in a Swiss Braunvieh cow: clinical, histological, immunohistochemical and electron microscopical findings].

    PubMed

    Braun, Ueli; Rütten, M; Bleul, U; Previtali, M; Krüger, S; Gerspach, C; Geiger, S; Sydler, T

    2012-01-01

    A 10-year-old Swiss Braunvieh cow near term was referred to our clinic because of severe abdominal distension, which caused loss of demarcation between the udder and ventral abdominal wall. Ultrasonographic examination revealed marked ascites and multiple echogenic nodules in the greater omentum. Based on the findings, non-inflammatory ascites attributable to neoplasia was diagnosed. Rupture of the prepubic tendon from the pubic symphysis was also suspected. Because of a grave prognosis, parturition was induced and a live calf was delivered. The cow was euthanized and a postmortem examination was carried out. The abdominal cavity contained 248.5 litres of clear fluid. The greater omentum was thickened and oedematous and regionally contained fluid-filled cystic structures, which varied in size with a maximum diameter of 10 centimetres. Based on the histological, immunohistochemical and electron microscopical findings, biphasic mesothelioma with cyst formation affecting the entire abdominal cavity was diagnosed.

  1. The Diagnostic Value of MRI in Brucella Spondylitis With Comparison to Clinical and Laboratory Findings

    PubMed Central

    Bagheri, Ali Baradaran; Ahmadi, Koorosh; Chokan, Niaz Mohamad Jafari; Abbasi, Bita; Akhavan, Reza; Bolvardi, Ehsan; Soroureddin, Somayeh

    2016-01-01

    Background: Brucellosis is an endemic zoonotic disease, especially in the Middle East and Mediterranean regions and can involve many organs and tissue. Osteoarticular involvement is the most common complication. Spondylitis is its most prevalent clinical form in adults, and there may be difficult in diagnosis and treatment. In present study, we aimed to assess these diagnostic value of MRI, in patients with spondylitis due to brucella, comparing with clinical and laboratory findings. Method: Patients with low back pain who were admitted to Sheikhol-raees MRI center were included in this study. None of these patients had any documented infectious disease. Diagnosis of brucellosis was made, based on MRI findings, which would be approved by serology. After confirmation with serology, the group with positive serology were compared with the negative group, in sex, age, MRI findings level of vertebral involvements, signal intensity in T1 weighted and T2 weighted. Results: Among 53 patients with diagnosis of brucella spondylitis, 33 underwent serology study, 20 were positive and 13 were negative and the others consider out of study. From these 20, 3 had tuberculosis spondylitis, whose mean age was 56 and the 67% of them were male. Mean age in the positive brucella spondylitis were 46 and 67% of them were male. In negative group mean age was 55, and of whom 57% were male. There was no statistically significant difference in MRI findings such as changes in signal intensity, disk space narrowing, Intracanalicular mass, Abscess formation. Level of invlovment in vertebrae. Conclusion: The results of this study shows that although MRI is Modality of choice in diagnosis of spondylitis, it is not enough specific to diagnosis the reasons of spondylitis. PMID:27147801

  2. Cobalamin (Cbl) C/D deficiency: clinical, neurophysiological and neuroradiologic findings in 14 cases.

    PubMed

    Biancheri, R; Cerone, R; Schiaffino, M C; Caruso, U; Veneselli, E; Perrone, M V; Rossi, A; Gatti, R

    2001-02-01

    The early onset type of cobalamin (Cbl) C/D deficiency is characterised by feeding difficulties, failure to thrive, hypotonia, seizures, microcephaly and developmental delay. It has an unfavourable outcome, often with early death and significant neurological impairment in survivors. While clinical and biochemical features of Cbl C/D deficiency are well known, only a few isolated case reports are available concerning neurophysiological and neuroimaging findings. We carried out clinical, biochemical, neurophysiological and neuroradiologic investigations in 14 cases with early-onset of the Cbl CID defect. Mental retardation was identified in most of the cases. A variable degree of supratentorial white matter atrophy was detected in 11 cases by MR imaging and tetraventricular hydrocephalus was present in the remaining 3 patients. Waking EEG showed a clear prevalence of epileptiform abnormalities, possibly related to the high incidence of seizures in these cases. Increased latency of evoked responses and/or prolongation of central conduction time were the most significant neurophysiological abnormalities. The selective white matter involvement, shown both by neuroradiologic and neurophysiological studies, seems to be the most consistent finding of Cbl C/D deficiency and may be related to a reduced supply of methyl groups, possibly caused by the dysfunction in the methyl-transfer pathway. PMID:11315197

  3. Clinical and ultrasonographic findings of some ocular conditions in sheep and goats

    PubMed Central

    El-Tookhy, O.; Tharwat, M.

    2013-01-01

    This study was carried out to describe the ultrasonographic findings in relation to the clinical symptoms of some common ocular conditions in sheep and goats. Fifty animals (32 goats and 18 sheep) with different ocular problems were examined. Ultrasonographic examination was performed using a B-mode ocular ultrasound unit, and the structure of the globe was evaluated at a depth of 4-6 cm. Early cases (n=35, 70%) showed varying ocular conditions; hypopyon, (n=8, 16%), stromal abscesses, (n=4, 8%), and anterior uveitis (n=23, 46%). Hypopyon appeared clinically as a white or yellowish material in the anterior chamber, and ultrasonographically as a hyperechoic mass in the anterior chamber. Severe iridocyclitis was noticed in acute cases of infectious keratoconjunctivitis (IKC) accompanied by blepharospasm, photophobia, excessive tearing and eyelid margin crust formation. Ultrasonographically, the pupil appeared constricted with increased hyperechoic thickening of the ciliary body. In chronic cases of IKC, corneal pigmentation (n=5, 10%) and cataract (n=10, 20%) were seen. Ultrasonographically the type and degree of cataract were diagnosed. The present study provides an inside view of the inner ocular structures during the course of certain eye diseases where ophthalmoscopic examination is not possible. Our findings, although preliminary, are relevant for the more complete diagnosis of certain external ocular conditions in sheep and goat herds. PMID:26623306

  4. Botulism in Brazil, 2000-2008: epidemiology, clinical findings and laboratorial diagnosis.

    PubMed

    Rowlands, Ruth Estela Gravato; Ristori, Christiane Asturiano; Lopes, Giselle Ibette S Lopez; Paula, Ana Maria Ramalho de; Sakuma, Harumi; Grigaliunas, Raquel; Lopreato Filho, Roberto; Gelli, Dilma Scala; Eduardo, Maria Bernadete de Paula; Jakabi, Miyoko

    2010-01-01

    Botulism is a rare and potentially lethal illness caused by Clostridium botulinum neurotoxin. We describe the findings of a laboratorial investigation of 117 suspected cases of botulism reported to the surveillance system in Brazil from January 2000 to October 2008. Data on the number and type of samples analyzed, type of toxins identified, reporting of the number of botulism cases and transmission sources are discussed. A total of 193 clinical samples and 81 food samples were analyzed for detection and identification of the botulism neurotoxin. Among the clinical samples, 22 (11.4%) presented the toxin (nine type A, five type AB and eight with an unidentified type); in food samples, eight (9.9%) were positive for the toxin (five type A, one type AB and two with an unidentified type). Of the 38 cases of suspected botulism in Brazil, 27 were confirmed by a mouse bioassay. Laboratorial botulism diagnosis is an important procedure to elucidate cases, especially food-borne botulism, to confirm clinical diagnosis and to identify toxins in food, helping sanitary control measures.

  5. Genetic prion disease with codon 196 PRNP mutation: clinical and pathological findings.

    PubMed

    Schelzke, Gabi; Eigenbrod, Sabina; Romero, Carlos; Varges, Daniela; Breithaupt, Maren; Taratuto, Ana L; Kretzschmar, Hans A; Zerr, Inga

    2011-04-01

    Ten percent to 15% of all human transmissible spongiform encephalopathy are characterized by a mutation in prion protein gene (PRNP). They are distinct with respect to clinical signs, disease onset, disease duration, and diagnostic findings. During our surveillance activities in Germany, we identified 7 patients with the rare mutation E196K in PRNP gene, thereof 4 patients belonging to 2 families. The clinical syndromes were characterized by nonspecific and psychiatric symptoms at disease onset and progressed to predominant motor signs. These patients showed a late median disease onset of 71 years and short disease duration of 6.5 months. In absence of family history, they mimicked sporadic Creutzfeldt-Jakob disease (CJD). In clinical tests they were 100% positive for 14-3-3 protein detection in cerebrospinal fluid and less sensitive for magnetic resonance imaging (MRI) and electroencephalogram (EEG) abnormalities. As a secondary magnetic resonance imaging (MRI) abnormality, we have seen conspicuous common involvement of the subcortical white matter in 57%. Four patients underwent autopsy-pathological lesions revealed striking similarity to sporadic Creutzfeldt-Jakob disease but also involvement of the white matter. PMID:21232818

  6. Nutrition modulation of gastrointestinal toxicity related to cancer chemotherapy: from preclinical findings to clinical strategy.

    PubMed

    Xue, Hongyu; Sawyer, Michael B; Wischmeyer, Paul E; Baracos, Vickie E

    2011-01-01

    Chemotherapy-induced gut toxicity is a major dose-limiting toxicity for many anticancer drugs. Gastrointestinal (GI) complications compromise the efficacy of chemotherapy, promote overall malnutrition, aggravate cancer cachexia, and may contribute to worsened prognosis. The GI tract is an attractive target for nutrition modulation, owing to its direct exposure to the diet, participation in uptake and metabolism of nutrients, high rate of cell turnover, and plasticity to nutrition stimuli. Glutamine, ω-3 polyunsaturated fatty acids, and probiotics/prebiotics are therapeutic factors that potentially modulate GI toxicity related to cancer treatments. Preclinical and clinical evidence are reviewed to critically define plausible benefits of these factors and their potential development into adjuncts to cancer chemotherapy. Mechanisms underlying the action of these nutrients are being unraveled in the laboratory. Optimal strategies to translate these findings into clinical care still remain to be elucidated. Key questions that remain to be answered include the following: which nutrient or combination of nutrients is selected for which patient and chemotherapy regimen? What mechanisms are responsible for modulation, and how are nutrient(s) administered in a clinically optimal manner? Research exploring interactions between different nutrients in GI protection is ongoing and demands further understanding. How nutrition preparations given to chemotherapy-treated patients are formulated in terms of component selection and dose optimization should be carefully studied and justified. PMID:21224434

  7. [Cowpox virus infection in an alpaca (Vicugna pacos) - clinical symptoms, laboratory diagnostic findings and pathological changes].

    PubMed

    Goerigk, D; Theuß, T; Pfeffer, M; Konrath, A; Kalthoff, D; Woll, D; Vahlenkamp, T W; Beer, M; Starke, A

    2014-01-01

    Orthopoxvirus infections appear to be rare in South American Camelids, because only a few cases have been reported in the literature. Based on a generalized infection with cowpox virus in an alpaca, the clinical symptoms, laboratory diagnostic findings and the pathological changes are described. The case history showed a long treatment because of chronic skin lesions. The main clinical symptom was miliary papules over the entire skin. Furthermore, a bilateral mucopurulent conjunctivitis occurred as well as excessive salivation due to a severe erosive-ulcerative stomatitis. Although the animal received intensive treatment, it died 8 days after admission to the clinic. During necropsy, an erosive-ulcerative laryngitis as well as a necrotising pneumonia and lymphadenitis were observed. Histopathological examination of representative organ samples led to the diagnosis of a suspected orthopoxvirus infection. Electron microscopy and quantitative polymerase chain reaction (qPCR) of tissue samples confirmed this diagnosis. The virus could be isolated in tissue culture and a PCR with subsequent nucleotide sequencing identified cowpox virus as the causative agent for this generalised infection.

  8. Clinical and Laboratory Findings That Differentiate Herpes Simplex Virus Central Nervous System Disease from Enteroviral Meningitis

    PubMed Central

    Sanaee, Layli; Karnauchow, Tim

    2016-01-01

    Background. It can be difficult for clinicians to distinguish between the relatively benign enteroviral (EnV) meningitis and potentially lethal herpes simplex virus (HSV) central nervous system (CNS) disease. Very limited evidence currently exists to guide them. Objective. This study sought to identify clinical features and cerebrospinal fluid (CSF) findings associated with HSV CNS disease. Methods. Given that PCR testing often is not immediately available, this chart review study sought to identify clinical and cerebrospinal fluid (CSF) findings associated with HSV meningitis over a 6-year period. In cases where PCR was not performed, HSV and EnV were assigned based on clinical criteria. Results. We enrolled 166 consecutive patients: 40 HSV and 126 EnV patients. HSV patients had a mean 40.4 versus 31.3 years for EnV, p = 0.005, seizures 21.1% versus 1.6% for EnV, p < 0.001, altered mental status 46.2% versus 3.2% for EnV, p < 0.001, or neurological deficits 44.7% versus 3.9% for EnV, p < 0.001. CSF neutrophils were lower in HSV (median 3.0% versus 9.5%, p = 0.0002); median lymphocytes (87.0% versus 67.0%, p = 0.0004) and protein (0.9 g/L versus 0.6 g/L, p = 0.0005) were elevated. Conclusion. Our study found that HSV patients were older and more likely to have seizure, altered mental status, or neurological deficits than patients with benign EnV meningitis. HSV cases had lower CSF neutrophils, higher lymphocytes, and higher protein levels. PMID:27563314

  9. Clinical, Electrophysiological Findings in Adult Patients with Non-traumatic Plexopathies

    PubMed Central

    Ko, Kiljun; Kang, Min Jae; Ko, Moon Ju; Do, Jong Gul; Sunwoo, Hyuk; Kwon, Tae Gun; Hwang, Jung Min; Park, Yoonhong

    2011-01-01

    Objective To ascertain the etiology of non-traumatic plexopathy and clarify the clinical, electrophysiological characteristics according to its etiology. Method We performed a retrospective analysis of 63 non-traumatic plexopathy patients that had been diagnosed by nerve conduction studies (NCS) and needle electromyography (EMG). Clinical, electrophysiological, imaging findings were obtained from medical records. Results We identified 36 cases with brachial plexopathy (BP) and 27 cases with lumbosacral plexopathy (LSP). The causes of plexopathy were neoplastic (36.1%), thoracic outlet syndrome (TOS) (25.0%), radiation induced (16.7%), neuralgic amyotrophy (8.3%), perioperative (5.6%), unknown (8.3%) in BP, while neoplastic (59.3%), radiation induced (22.2%), neuralgic amyotrophy (7.4%), psoas muscle abscess (3.7%), and unknown (7.4%) in LSP. In neoplastic plexopathy, pain presented as the first symptom in most patients (82.8%), with the lower trunk of the brachial plexus predominantly involved. In radiation induced plexopathy (RIP), pain was a common initial symptom, but the proportion was smaller (50%), and predominant involvements of bilateral lumbosacral plexus and whole trunk of brachial or lumbosacral plexus were characteristic. Myokymic discharges were noted in 41.7% patients with RIP. Abnormal NCS finding in the medial antebrachial cutaneous nerve was the most sensitive to diagnose TOS. Neuralgic amyotrophy of the brachial plexus showed upper trunk involvement in all cases. Conclusion By integrating anatomic, pathophysiologic knowledge with detailed clinical assessment and the results of ancillary studies, physicians can make an accurate diagnosis and prognosis. PMID:22506209

  10. Clinical and Laboratory Findings That Differentiate Herpes Simplex Virus Central Nervous System Disease from Enteroviral Meningitis.

    PubMed

    Sanaee, Layli; Taljaard, Monica; Karnauchow, Tim; Perry, Jeffrey J

    2016-01-01

    Background. It can be difficult for clinicians to distinguish between the relatively benign enteroviral (EnV) meningitis and potentially lethal herpes simplex virus (HSV) central nervous system (CNS) disease. Very limited evidence currently exists to guide them. Objective. This study sought to identify clinical features and cerebrospinal fluid (CSF) findings associated with HSV CNS disease. Methods. Given that PCR testing often is not immediately available, this chart review study sought to identify clinical and cerebrospinal fluid (CSF) findings associated with HSV meningitis over a 6-year period. In cases where PCR was not performed, HSV and EnV were assigned based on clinical criteria. Results. We enrolled 166 consecutive patients: 40 HSV and 126 EnV patients. HSV patients had a mean 40.4 versus 31.3 years for EnV, p = 0.005, seizures 21.1% versus 1.6% for EnV, p < 0.001, altered mental status 46.2% versus 3.2% for EnV, p < 0.001, or neurological deficits 44.7% versus 3.9% for EnV, p < 0.001. CSF neutrophils were lower in HSV (median 3.0% versus 9.5%, p = 0.0002); median lymphocytes (87.0% versus 67.0%, p = 0.0004) and protein (0.9 g/L versus 0.6 g/L, p = 0.0005) were elevated. Conclusion. Our study found that HSV patients were older and more likely to have seizure, altered mental status, or neurological deficits than patients with benign EnV meningitis. HSV cases had lower CSF neutrophils, higher lymphocytes, and higher protein levels. PMID:27563314

  11. Preliminary findings of cortical thickness abnormalities in blast injured service members and their relationship to clinical findings.

    PubMed

    Tate, D F; York, G E; Reid, M W; Cooper, D B; Jones, L; Robin, D A; Kennedy, J E; Lewis, J

    2014-03-01

    Though cortical abnormalities have been demonstrated in moderate and severe traumatic brain injured (TBI) patients, there have been no studies examining cortical changes following blast related mild TBI (mTBI). The purpose of this study was to determine the effects and functional relevance of blast mTBI on cortical thickness in a small cohort of carefully screened blast injured US Service Members (SM). Twelve SM with mTBI acquired through blast injury were compared to 11 demographically matched control SM without TBI. Both mTBI and control participants were active duty and had completed a combat deployment. Subjects underwent MRI examination and the T1 weighted anatomic images were processed using the FreeSurfer suite of tools. Cortical thickness maps were compared between groups and examined for relationships with time since injury (TSI). Utilizing a large database of functional imaging results (BrainMap), significant regions of interest (ROI) were used to determine the behavioral profiles most consistently associated with the specific ROI. In addition, clinical variables were examined as part of post-hoc analysis of functional relevance. Group comparisons controlling for age demonstrated several significant clusters of cortical thinning for the blast injured SM. After multiple comparisons correction (False Discovery Rate (FDR)), two left hemisphere clusters remained significant (left superior temporal (STG) and frontal (SFG) gyri). No clusters were significantly correlated with TSI after FDR correction. Behavioral analysis for the STG and SFG clusters demonstrated three significant behavioral/cognitive sub-domains, each associated with audition and language. Blast injured SMs demonstrated distinct areas of cortical thinning in the STG and SFG. These areas have been previously shown to be associated with audition and language. Post-hoc analyses of clinical records demonstrated significant abnormal audiology reports for the blast injured SM suggesting that the

  12. Spectrum of anterior cerebral artery territory infarction: clinical and MRI findings.

    PubMed

    Kumral, E; Bayulkem, G; Evyapan, D; Yunten, N

    2002-11-01

    To evaluate and review the clinical spectrum of anterior cerebral artery (ACA) territory infarction, we studied 48 consecutive patients who admitted to our stroke unit over a 6-year period. We performed magnetic resonance imaging (MRI) and magnetic resonance angiography (MRA) in all patients, and diffusion magnetic resonance imaging (DWI) in 21. In our stroke registry, patients with ACA infarction represented 1.3% of 3705 patients with ischemic stroke. The main risk factors of ACA infarcts was hypertension in 58% of patients, diabetes mellitus in 29%, hypercholesterolemia in 25%, cigarette smoking in 19%, atrial fibrillation in 19%, and myocardial infarct in 6%. Presumed causes of ACA infarct were large-artery disease and cardioembolism in 13 patients each, small-artery disease (SAD) in the territory of Heubner's artery in two and atherosclerosis of large-arteries (<50% stenosis) in 16. On clinico-radiologic analysis there were three main clinical patterns depending on lesion side; left-side infarction (30 patients) consisting of mutism, transcortical motor aphasia, and hemiparesis with lower limb predominance; right side infarction (16 patients) accompanied by acute confusional state, motor hemineglect and hemiparesis; bilateral infarction (two patients) presented with akinetic mutism, severe sphincter dysfunction, and dependent functional outcome. Our findings suggest that clinical and etiologic spectrum of ACA infarction may present similar features as that of middle cerebral artery infarction, but frontal dysfunctions and callosal syndromes can help to make a clinical differential diagnosis. Moreover, at the early phase of stroke, DWI is useful imaging method to locate and delineate the boundary of lesion in the territory of ACA.

  13. Innovations for phase I dose-finding designs in pediatric oncology clinical trials.

    PubMed

    Doussau, Adelaide; Geoerger, Birgit; Jiménez, Irene; Paoletti, Xavier

    2016-03-01

    Phase I oncology clinical trials are designed to identify the optimal dose that will be recommended for phase II trials. In pediatric oncology, the conduct of those trials raises specific challenges, as the disease is rare with limited therapeutic options. In addition, the tolerance profile is known from adult trials. This paper provides a review of the major recent developments in the design of these trials, inspired by the need to cope with the specific challenges of dose finding in cancer pediatric oncology. We reviewed simulation studies comparing designs dedicated to address these challenges. We also reviewed the design used in published dose-finding trials in pediatric oncology over the period 2009-2014. Three main fields of innovation were identified. First, designs that were developed in order to relax the rules for more flexible inclusions. Second, methods to incorporate data emerging from adult studies. Third, designs accounting for toxicity evaluation at repeated cycles in pediatric oncology. In addition to this overview, we propose some further directions for designing pediatric dose-finding trials.

  14. Polyneuropathy in neurofibromatosis 2: clinical findings, molecular genetics and neuropathological alterations in sural nerve biopsy specimens.

    PubMed

    Hagel, Christian; Lindenau, Matthias; Lamszus, Katrin; Kluwe, Lan; Stavrou, Dimitrios; Mautner, Victor-Felix

    2002-08-01

    Neurofibromatosis 2 (NF2) is an autosomal dominant disease characterised by development of tumours in the central and peripheral nervous system. Some NF2 patients develop acro-distal sensory motor polyneuropathy that can hardly be explained by the tumour burden alone. In the present study eight sural nerve biopsy specimens from seven NF2 patients suffering from polyneuropathy were investigated, data including clinical course of the disease, electrophysiological findings, teased fibre preparations, histopathological, morphometric, immunohistochemical, electron microscopic and molecular genetic findings. All patients suffered from distal symmetric reflex loss, symmetrical stocking-like hypalgesia and hypesthesia and loss of vibration sense later followed by a slowly progressive distal muscle atrophy and paresis. Sural nerve biopsy specimens revealed a pathological reduction of nerve fibre density correlating with age. In addition, diffuse proliferation of Schwann cells was observed in five of eight biopsies, and small endoneurial tumourlets of schwannomas and perineuriomas were found in two of eight and one of eight samples, respectively. Ki-67 labelling revealed a slight endoneurial proliferative activity in three cases. Schwann cell onion bulbs with or without central myelinated axon were seen in two cases. The findings suggest an axonopathy of multifactorial origin resulting not only from gross tumour growth but, in addition, from small endoneurial tumourlets, diffuse proliferation of Schwann cells and proliferation of perineurial cells. PMID:12111361

  15. Clinical, Microbiological and Pathological Findings of Mycobacterium ulcerans Infection in Three Australian Possum Species

    PubMed Central

    O'Brien, Carolyn R.; Handasyde, Kathrine A.; Hibble, Jennifer; Lavender, Caroline J.; Legione, Alistair R.; McCowan, Christina; Globan, Maria; Mitchell, Anthony T.; McCracken, Helen E.; Johnson, Paul D. R.; Fyfe, Janet A. M.

    2014-01-01

    Background Buruli ulcer (BU) is a skin disease caused by Mycobacterium ulcerans, with endemicity predominantly in sub-Saharan Africa and south-eastern Australia. The mode of transmission and the environmental reservoir(s) of the bacterium and remain elusive. Real-time PCR investigations have detected M. ulcerans DNA in a variety of Australian environmental samples, including the faeces of native possums with and without clinical evidence of infection. This report seeks to expand on previously published findings by the authors' investigative group with regards to clinical and subclinical disease in selected wild possum species in BU-endemic areas of Victoria, Australia. Methodology/Principal Findings Twenty-seven clinical cases of M. ulcerans infection in free-ranging possums from southeastern Australia were identified retrospectively and prospectively between 1998–2011. Common ringtail possums (Pseudocheirus peregrinus), a common brushtail possum (Trichosurus vulpecula) and a mountain brushtail possum (Trichosurus cunninghami) were included in the clinically affected cohort. Most clinically apparent cases were adults with solitary or multiple ulcerative cutaneous lesions, generally confined to the face, limbs and/or tail. The disease was minor and self-limiting in the case of both Trichosurus spp. possums. In contrast, many of the common ringtail possums had cutaneous disease involving disparate anatomical sites, and in four cases there was evidence of systemic disease at post mortem examination. Where tested using real-time PCR targeted at IS2404, animals typically had significant levels of M. ulcerans DNA throughout the gut and/or faeces. A further 12 possums without cutaneous lesions were found to have PCR-positive gut contents and/or faeces (subclinical cases), and in one of these the organism was cultured from liver tissue. Comparisons were made between clinically and subclinically affected possums, and 61 PCR-negative, non-affected individuals, with regards

  16. [Evaluation of clinical and laboratory findings of adult visceral leishmaniasis cases].

    PubMed

    Ural, Serap; Kaptan, Figen; Sezak, Nurbanu; El, Sibel; Örmen, Bahar; Türker, Nesrin; Demirdal, Tuna; Vardar, İlknur; Özkan Çayıröz, Pınar; Çakalağaoğlu, Fulya

    2015-10-01

    Visceral leishmaniasis (VL, kala-azar) is a zoonotic infection caused by Leishmania species which are transmitted to humans by the bites of infected female phlebotomine sandflies. Leishmania infantum is the responsible species of VL in Aegean, Mediterranean, and Central Anatolia regions of Turkey mainly observed sporadically in pediatric age groups. The aim of this study was to evaluate the clinical and laboratory findings of adult patients with VL who were admitted to our hospital. A total of 10 patients (3 female, 7 male; age range: 18-67 years, mean age: 39.3 ± 16.51) followed in the infectious diseases clinic of the hospital between 2000 and 2013 were evaluated retrospectively. The diagnosis of VL was based on the presence of appropriate clinical and physical examination, as well as biochemical findings, positive serological test results (indirect fluorescent antibody test, and rK39 rapid antigen test) and/or detection of amastigote forms of parasite in the bone marrow aspiration samples. Of the cases three were diagnosed with both bone marrow and serology positivity, five with bone marrow positivity and one of each only with liver biopsy and positive serology result. Time interval from onset of the symptoms until the establishment of the specific clinical diagnosis was ranged from 2 to 12 weeks. The most frequent initial symptoms were fever, fatigue and abdominal distension. None of the patients had immunosupressive conditions such as HIV infection, corticosteroid use, immunosupressive treatment, or transplantation. All the patients were from Aegean region and six were living in rural areas. In all cases, hepatosplenomegaly, increased erythrocyte sedimentation rate, albumin/globulin ratio inversion, anemia, leukopenia and among nine cases trombocytopenia were detected. In one case acute renal failure has been developed before treatment and the patient was admitted to dialysis program. Bacterial superinfection occurred in two cases. Patients were treated with

  17. High prevalence of cerebral venous sinus thrombosis (CVST) as presentation of cystathionine beta-synthase deficiency in childhood: molecular and clinical findings of Turkish probands.

    PubMed

    Karaca, Mehmet; Hismi, Burcu; Ozgul, Riza Koksal; Karaca, Sefayet; Yilmaz, Didem Yucel; Coskun, Turgay; Sivri, Hatice Serap; Tokatli, Aysegul; Dursun, Ali

    2014-01-25

    Classical homocystinuria is the most commonly inherited disorder of sulfur metabolism, caused by the genetic alterations in human cystathionine beta-synthase (CBS) gene. In this study, we present comprehensive clinical findings and the genetic basis of homocystinuria in a cohort of Turkish patients. Excluding some CBS mutations, detailed genotype-phenotype correlation for different CBS mutations has not been established in literature. We aimed to make clinical subgroups according to main clinical symptoms and discussed these data together with mutational analysis results from our patients. Totally, 16 different mutations were identified; twelve of which had already been reported, and four are novel (p.N93Y, p.L251P, p.D281V and c.829-2A>T). The probands were classified into three major groups according to the clinical symptoms caused by these mutations. A psychomotor delay was the most common diagnostic symptom (n=12, 46.2% neurological presentation), followed by thromboembolic events (n=6, 23.1% vascular presentation) and lens ectopia, myopia or marfanoid features (n=5, 19.2% connective tissue presentation). Pyridoxine responsiveness was 7.7%; however, with partial responsive probands, the ratio was 53.9%. In addition, five thrombophilic nucleotide changes including MTHFR c.677 C>T and c.1298 A>C, Factor V c.1691 G>A, Factor II c.20210 G>A, and SERPINE1 4G/5G were investigated to assess their contributions to the clinical spectrum. We suggest that the effect of these polymorphisms on clinical phenotype of CBS is not very clear since the distribution of thrombophilic polymorphisms does not differ among specific groups. This study provides molecular findings of 26 Turkish probands with homocystinuria and discusses the clinical presentations and putative effects of the CBS mutations. PMID:24211323

  18. Clinical and molecular characterization of 40 patients with classic Ehlers–Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations

    PubMed Central

    2013-01-01

    Background Classic Ehlers–Danlos syndrome (cEDS) is a rare autosomal dominant connective tissue disorder that is primarily characterized by skin hyperextensibility, abnormal wound healing/atrophic scars, and joint hypermobility. A recent study demonstrated that more than 90% of patients who satisfy all of these major criteria harbor a type V collagen (COLLV) defect. Methods This cohort included 40 patients with cEDS who were clinically diagnosed according to the Villefranche nosology. The flowchart that was adopted for mutation detection consisted of sequencing the COL5A1 gene and, if no mutation was detected, COL5A2 analysis. In the negative patients the presence of large genomic rearrangements in COL5A1 was investigated using MLPA, and positive results were confirmed via SNP-array analysis. Results We report the clinical and molecular characterization of 40 patients from 28 families, consisting of 14 pediatric patients and 26 adults. A family history of cEDS was present in 9 patients. The majority of the patients fulfilled all the major diagnostic criteria for cEDS; atrophic scars were absent in 2 females, skin hyperextensibility was not detected in a male and joint hypermobility was negative in 8 patients (20% of the entire cohort). Wide inter- and intra-familial phenotypic heterogeneity was observed. We identified causal mutations with a detection rate of approximately 93%. In 25/28 probands, COL5A1 or COL5A2 mutations were detected. Twenty-one mutations were in the COL5A1 gene, 18 of which were novel (2 recurrent). Of these, 16 mutations led to nonsense-mediated mRNA decay (NMD) and to COLLV haploinsufficiency and 5 mutations were structural. Two novel COL5A2 splice mutations were detected in patients with the most severe phenotypes. The known p. (Arg312Cys) mutation in the COL1A1 gene was identified in one patient with vascular-like cEDS. Conclusions Our findings highlight that the three major criteria for cEDS are useful and sufficient for cEDS clinical

  19. HLA-E and HLA-G expression in classical HLA class I-negative tumors is of prognostic value for clinical outcome of early breast cancer patients.

    PubMed

    de Kruijf, Esther M; Sajet, Anita; van Nes, Johanna G H; Natanov, Russ; Putter, Hein; Smit, Vincent T H B M; Liefers, Gerrit Jan; van den Elsen, Peter J; van de Velde, Cornelis J H; Kuppen, Peter J K

    2010-12-15

    Nonclassical HLAs, HLA-E and HLA-G, are known to affect clinical outcome in various tumor types. We examined the clinical impact of HLA-E and HLA-G expression in early breast cancer patients, and related the results to tumor expression of classical HLA class I. Our study population (n = 677) consisted of all early breast cancer patients primarily treated with surgery in our center between 1985 and 1995. Tissue microarray sections of arrayed tumor and normal control material were immunohistochemically stained for HLA-E and HLA-G. For evaluation of HLA-E and HLA-G and the combined variable, HLA-EG, a binary score was used. Expression of classical HLA class I molecules was determined previously. HLA-E, HLA-G, and HLA-EG on breast tumors were classified as expression in 50, 60, and 23% of patients, respectively. Remarkably, only in patients with loss of classical HLA class I tumor expression, expression of HLA-E (p = 0.027), HLA-G (p = 0.035), or HLA-EG (p = 0.001) resulted in a worse relapse-free period. An interaction was found between classical and nonclassical HLA class I expression (p = 0.002), suggestive for a biological connection. We have demonstrated that, next to expression of classical HLA class I, expression of HLA-E and HLA-G is an important factor in the prediction of outcome of breast cancer patients. These results provide further evidence that breast cancer is immunogenic, but also capable of evading tumor eradication by the host's immune system, by up- or downregulation of HLA class Ia and class Ib loci.

  20. Clinical and histological findings associated with autoantibodies detected by RNA immunoprecipitation in inflammatory myopathies.

    PubMed

    Suzuki, Shigeaki; Yonekawa, Takahiro; Kuwana, Masataka; Hayashi, Yukiko K; Okazaki, Yuka; Kawaguchi, Yasushi; Suzuki, Norihiro; Nishino, Ichizo

    2014-09-15

    Of 207 adult patients with idiopathic inflammatory myopathies, detection of autoantibodies by RNA immunoprecipitation showed that 99 patients (48%) were antibody-positive. We divided these 99 into five subgroups: anti-signal recognition particle (SRP), anti-aminoacyl transfer RNA synthetase, anti-Ku, anti-U1RNP, and anti-SSA/B. Younger age at onset, severe weakness, muscle atrophy, elevated creatine kinase, and necrosis in muscle fibers without inflammatory cell infiltration were found significantly more frequently among the patients with anti-SRP antibodies (n=41) compared to the antibody-negative patients (n=108). Autoantibody detection by RNA immunoprecipitation can provide useful information associated with clinical and histological findings.

  1. HIV research in Australia: linking basic research findings with clinical and public health outcomes

    PubMed Central

    Lewin, Sharon R; Kaldor, John M; Cooper, David A

    2006-01-01

    Despite a population of only 20 million and sustained low prevalence of HIV infection in Australia, Australian researchers have provided many substantial original findings to the fields of HIV pathogenesis, treatment and prevention. More recently, Australian clinicians and scientists have turned their attention to assisting other countries in developing effective responses, particularly within the Asia-Pacific region. It is therefore fitting that the 4th International AIDS Society (IAS) Conference on HIV Pathogenesis, Treatment and Prevention will be held in Sydney in July 2007. The meeting is expected to attract over 5000 participants and will have a dynamic and innovative programme within the three major themes of HIV basic science, clinical research and biomedical prevention. PMID:17140433

  2. Finding 'Evidence of Absence' in Medical Notes: Using NLP for Clinical Inferencing.

    PubMed

    Carter, Marjorie E; Divita, Guy; Redd, Andrew; Rubin, Michael A; Samore, Matthew H; Gupta, Kalpana; Trautner, Barbara W; Gundlapalli, Adi V

    2016-01-01

    Extracting evidence of the absence of a target of interest from medical text can be useful in clinical inferencing. The purpose of our study was to develop a natural language processing (NLP) pipelineto identify the presence of indwelling urinary catheters from electronic medical notes to aid in detection of catheter-associated urinary tract infections (CAUTI). Finding clear evidence that a patient does not have an indwelling urinary catheter is useful in making a determination regarding CAUTI. We developed a lexicon of seven core concepts to infer the absence of a urinary catheter. Of the 990,391 concepts extractedby NLP from a large corpus of 744,285 electronic medical notes from 5589 hospitalized patients, 63,516 were labeled as evidence of absence.Human review revealed three primary causes for false negatives. The lexicon and NLP pipeline were refined using this information, resulting in outputs with an acceptable false positive rate of 11%.

  3. Finding 'Evidence of Absence' in Medical Notes: Using NLP for Clinical Inferencing.

    PubMed

    Carter, Marjorie E; Divita, Guy; Redd, Andrew; Rubin, Michael A; Samore, Matthew H; Gupta, Kalpana; Trautner, Barbara W; Gundlapalli, Adi V

    2016-01-01

    Extracting evidence of the absence of a target of interest from medical text can be useful in clinical inferencing. The purpose of our study was to develop a natural language processing (NLP) pipelineto identify the presence of indwelling urinary catheters from electronic medical notes to aid in detection of catheter-associated urinary tract infections (CAUTI). Finding clear evidence that a patient does not have an indwelling urinary catheter is useful in making a determination regarding CAUTI. We developed a lexicon of seven core concepts to infer the absence of a urinary catheter. Of the 990,391 concepts extractedby NLP from a large corpus of 744,285 electronic medical notes from 5589 hospitalized patients, 63,516 were labeled as evidence of absence.Human review revealed three primary causes for false negatives. The lexicon and NLP pipeline were refined using this information, resulting in outputs with an acceptable false positive rate of 11%. PMID:27350471

  4. Submaximal delayed-onset muscle soreness: correlations between MR imaging findings and clinical measures

    NASA Technical Reports Server (NTRS)

    Evans, G. F.; Haller, R. G.; Wyrick, P. S.; Parkey, R. W.; Fleckenstein, J. L.; Blomqvist, C. G. (Principal Investigator)

    1998-01-01

    PURPOSE: To assess correlations between muscle edema on magnetic resonance (MR) images and clinical indexes of muscle injury in delayed-onset muscle soreness (DOMS) produced by submaximal exercise protocols. MATERIALS AND METHODS: Sixteen subjects performed 36 elbow flexions ("biceps curls") at one of two submaximal workloads that emphasized eccentric contractions. Changes in MR imaging findings, plasma levels of creatine kinase, and pain scores were correlated. RESULTS: Both exercise protocols produced DOMS in all subjects. The best correlation was between change in creatine kinase level and volume of muscle edema on MR images, regardless of the workload. Correlations tended to be better with the easier exercise protocol. CONCLUSION: Whereas many previous studies of DOMS focused on intense exercise protocols to ensure positive results, the present investigation showed that submaximal workloads are adequate to produce DOMS and that correlations between conventionally measured indexes of injury may be enhanced at lighter exercise intensities.

  5. [Fatal familial insomnia: case presentation and discussion of typical clinical and imaging findings].

    PubMed

    Thomas, A V; Klein, J C; Brockhaus-Dumke, A; Heiss, W D; Jacobs, A H; Petereit, H F

    2006-06-01

    Fatal familial insomnia (FFI) is a hereditary prion disease caused by a mutation in codon 178 of the prion protein gene PRNP on chromosome 20. It is characterized by disturbed night sleep, resulting in daily vigilance perturbations and a variety of other neurological symptoms. We present the case of a 46-year-old woman deteriorating despite immunosuppressive treatment which was initiated suspecting cerebral vasculitis as the cause of her progressive neurological symptoms. The correct diagnosis was established only post mortem. Based on the case presented here, we discuss typical clinical symptoms and imaging findings. In particular, we outline how modern diagnostic methods such as positron emission tomography with [(15)O]H(2)O and [(18)F]FDG and single photon emission computed tomography can add valuable information to results from conventionally performed imaging techniques and genetic testing.

  6. [Clinical and immunohistological findings of juvenile nasopharyngeal angiofibroma experienced in the last six years].

    PubMed

    Kumagami, H; Nakajima, S; Sakihama, N

    1991-02-01

    Five patients with juvenile nasopharyngeal angiofibroma were found between 1984 and 1990 in our department. Clinical findings, treatment, and postoperative follow-up were reported. Two patients belonged to stage III and remnant 3 patients belonged to stage I. In cases of stage I, a surgical approach through the suprahyoid pharyngotomy was a worthy procedure to try, because angiofibroma was observed under direct vision and hemostasis was easy. In therapeutic planning, the authors emphasized the need of a preoperative staging classification based on CT scanning and selective angiography. In immunohistochemical studies, Langerhans cells with S-100 protein positive were found. Fibroblasts revealed estradiol positive but testosterone showed negative in all cases. Thus, juvenile nasopharyngeal angiofibroma was considered to be neoplasm related estradiol.

  7. Prognostic indicators of laparotomy findings in clinical stage I-II supradiaphragmatic Hodgkin's disease.

    PubMed

    Leibenhaut, M H; Hoppe, R T; Efron, B; Halpern, J; Nelsen, T; Rosenberg, S A

    1989-01-01

    Between July 1968 and July 1986, 915 patients with clinical stage (CS) I and II Hodgkin's disease limited to sites above the diaphragm underwent laparotomy and splenectomy at Stanford University. Fifteen percent were CS I, of whom 76% had cervical/supraclavicular disease, 13% axillary disease, and 9% mediastinal presentations. CS I patients were more likely to be male, were significantly older, and were significantly less likely to have nodular sclerosis (NS) histology than CS II patients. Twenty percent of CS I patients and 30% of CS II patients were pathologically upstaged. No CS I patients were upstaged to pathological stage (PS) IV. Univariate and multivariate analyses of presenting clinical characteristics were performed to predict staging laparotomy findings. CS I women, CS I patients with mediastinal-only disease, and CS I men with either lymphocyte predominance or interfollicular histologies were at low risk for having disease below the diaphragm (5%) or requiring chemotherapy (0%). CS II women who were less than 27 years old and had only two or three sites of disease were also at low risk for upstaging (9%) or requiring chemotherapy (2%). Mixed cellularity histology and male gender were associated with increased risk for subdiaphragmatic disease and require laparotomy; the presence of systemic symptoms was not correlated with laparotomy findings. These results confirm the importance of performing staging laparotomy for the majority of patients who present with supradiaphragmatic Hodgkin's disease if treatment programs are based on the presence and extent of subdiaphragmatic disease. Selected subgroups are at low risk for subdiaphragmatic disease and might be spared laparotomy if they are treated with mantle, paraaortic, and splenic irradiation.

  8. Auto-Antibodies and Their Association with Clinical Findings in Women Diagnosed with Microscopic Colitis

    PubMed Central

    Ohlsson, Bodil

    2013-01-01

    Background Microscopic colitis (MC) is a disease manifested by diarrhoea and is divided into collagenous and lymphocytic colitis. The aetiology is unknown, but auto-immunity is suggested. Auto-antibodies have been only rarely examined in this entity. The aim of the study was to examine the prevalence of auto-antibodies, and to examine associations between the presence of antibodies and clinical findings. Methods and Findings Women with MC verified by biopsy and younger than 73 years, at any Department of Gastroenterology, in the district of Skåne, between 2002 and 2010 were invited to participate in this study. The patients were asked to complete both a questionnaire describing their medical history and the Gastrointestinal Symptom Rating Scale (GSRS). Blood samples were collected. Anti-nuclear antibodies (ANA), anti-neutrophil cytoplasmic antibodies (ANCA), anti-Saccharomyces cerevisiae antibodies (ASCA), and antibodies against glutamic acid decarboxylase (anti-GAD), islet antigens-like insulin 2 (anti-IA2), thyroid peroxidase (anti-TPO), and thyrotropin receptor (TRAK) were analysed. Of 240 women identified, 133 were finally included in the study, median age 63 (59–67) years. Apart from the MC diagnosis, 52% also suffered from irritable bowel syndrome, 31% from hypertension and 31% from allergy. The prevalence of ANA (14%), ASCA IgG (13%), and anti-TPO antibodies (14%) for these patients was slightly higher than for the general population, and were found together with other concomitant diseases. Patients had more of all gastrointestinal symptoms compared with norm values, irrespective of antibody expression. Conclusions Women with MC have a slightly increased prevalence of some auto-antibodies. These antibodies are not associated with symptoms, but are expressed in patients with concomitant diseases, obscuring the pathophysiology and clinical picture of MC. PMID:23776613

  9. Clinical Findings, Follow-up and Treatment Results in Patients with Ocular Rosacea

    PubMed Central

    Kılıç Müftüoğlu, İlkay; Aydın Akova, Yonca

    2016-01-01

    Objectives: To report the clinical features, treatment options and complications in patients with ocular rosacea. Materials and Methods: The records of 48 eyes of 24 patients with ocular rosacea were retrospectively reviewed. Patients’ ocular signs and symptoms were scored between 1 and 4 points according to disease severity; tear film break-up time (BUT) and Schirmer’s test results were recorded before and after the treatment. Preservative-free artificial tears, topical antibiotic eye drops/ointments, short-term topical corticosteroids, topical 0.05% cyclosporine and oral doxycycline treatment were applied as a standard therapy to all patients. Additional treatments were given as needed. Complications were recorded. Results: Twenty-four patients with a mean age of 48.5±35.4 (32-54) years were followed for a mean 15±9.4 (8-36) months. Ocular findings included meibomitis in 100% of cases, anterior blepharitis in 83% (40 eyes), punctate keratopathy in 67% (32 eyes), chalazia in 50% (24 eyes), corneal neovascularization in 50% (24 eyes) and subepithelial infiltrates in 16.6% (8 eyes). Significant improvement of symptoms and clinical findings were achieved in all patients with treatment. The increases in Schirmer’s test and BUT were 3.3±1.5 and 4.5±2.8, respectively (p<0.05). Descemetocele and small corneal perforation occurred in 2 eyes; re-epithelialization was achieved in both eyes with tissue adhesive application (1 eye) and additional amniotic membrane transplantation (1 eye). Four eyes of three patients showed significant regression of corneal neovascularization with topical bevacizumab therapy. Conclusion: Ocular rosacea may present with a variety of ophthalmic signs. It is possible to control the ophthalmic disease with appropriate therapeutic modalities including topical corticosteroids, topical cyclosporine and systemic doxycycline. PMID:27800249

  10. Structural brain MRI studies in eye diseases: are they clinically relevant? A review of current findings.

    PubMed

    Prins, Doety; Hanekamp, Sandra; Cornelissen, Frans W

    2016-03-01

    Many eye diseases reduce visual acuity or are associated with visual field defects. Because of the well-defined retinotopic organization of the connections of the visual pathways, this may affect specific parts of the visual pathways and cortex, as a result of either deprivation or transsynaptic degeneration. For this reason, over the past several years, numerous structural magnetic resonance imaging (MRI) studies have examined the association of eye diseases with pathway and brain changes. Here, we review structural MRI studies performed in human patients with the eye diseases albinism, amblyopia, hereditary retinal dystrophies, age-related macular degeneration (AMD) and glaucoma. We focus on two main questions. First, what have these studies revealed? Second, what is the potential clinical relevance of their findings? We find that all the aforementioned eye diseases are indeed associated with structural changes in the visual pathways and brain. As such changes have been described in very different eye diseases, in our view the most parsimonious explanation is that these are caused by the loss of visual input and the subsequent deprivation of the visual pathways and brain regions, rather than by transsynaptic degeneration. Moreover, and of clinical relevance, for some of the diseases - in particular glaucoma and AMD - present results are compatible with the view that the eye disease is part of a more general neurological or neurodegenerative disorder that also affects the brain. Finally, establishing structural changes of the visual pathways has been relevant in the context of new therapeutic strategies to restore retinal function: it implies that restoring retinal function may not suffice to also effectively restore vision. Future structural MRI studies can contribute to (i) further establish relationships between ocular and neurological neurodegenerative disorders, (ii) investigate whether brain degeneration in eye diseases is reversible, (iii) evaluate the use

  11. A Study of Correlation Between Clinical and Histopathological Findings of Erythroderma in North Bengal Population

    PubMed Central

    Banerjee, Sabyasachi; Ghosh, Swarup; Mandal, Rajesh Kumar

    2015-01-01

    Background: Erythroderma is a reaction pattern characterized by erythema and desquamation of 90% or more body surface area along with some metabolic alterations. Materials and Methods: Here we studied 32 patients of erythroderma at of North Bengal Medical College for a period of 1 year to find the etiology, clinical features and histological changes. Detailed history was taken from all the patients followed by relevant biochemical investigations and histological examination. To correlate the clinical and histopathological findings chi square test was used. Results: Male preponderance was present and most of them were in the 4th or 5th decade. Etiologically the patients were divided into secondary erythroderma developing over pre-existing dermatoses, and idiopathic erythroderma. Secondary erythroderma (n = 24) cases outnumbered the idiopathic cases (n = 8). Among the pre-existing dermatoses, psoriasis was found to be the most common etiologic agent. Apart from erythema the other common presenting features were scaling and itching. Histopathological categorization was possible in 59.3% cases, rest of the cases showed non-specific dermatitis. The most common histopathologic diagnosis was psoriasis (21.8% of cases). Conclusions: Our study of clinicopathological correlation of erythroderma patients among north bengal population corroborates with most of the previous studies done in other areas. As ours is a cross-sectional study in a undefined population so we could not determine the true incidence of erythroderma in north bengal population. We might have missed lymphoma as a cause of erythroderma in idiopathic cases due to lack of long follow-up, so we understand that further studies over a defined population with long follow-up is needed to determine the true incidence and causes of idiopathic erythroderma. PMID:26677266

  12. Classical Trajectories and Quantum Spectra

    NASA Technical Reports Server (NTRS)

    Mielnik, Bogdan; Reyes, Marco A.

    1996-01-01

    A classical model of the Schrodinger's wave packet is considered. The problem of finding the energy levels corresponds to a classical manipulation game. It leads to an approximate but non-perturbative method of finding the eigenvalues, exploring the bifurcations of classical trajectories. The role of squeezing turns out decisive in the generation of the discrete spectra.

  13. Clinical findings and treatment in 63 cows with haemorrhagic bowel syndrome.

    PubMed

    Braun, U; Schmid, T; Muggli, E; Steininger, K; Previtali, M; Gerspach, C; Pospischil, A; Nuss, K

    2010-11-01

    The clinical, haematological and biochemical findings, treatment and outcome of 63 cows with haemorrhagic bowel syndrome are described. The general condition and demeanor were moderately to severely abnormal in all the cows. Signs of colic occurred in 27 cows, decreased rectal temperature in 46 and tachycardia in 44. With the exception of one cow, intestinal motility was decreased or absent. Transrectal palpation revealed dilatation of the rumen in 47 cows and dilatation of the small intestine in 18. Faecal output was markedly reduced or absent, and the faeces were dark brown to black and contained blood. Nine cows were euthanized immediately after physical examination. Conservative medical therapy was instituted in two cows; however, both were euthanized a few days later because of deterioration in condition. Exploratory right flank laparotomy was carried out in 52 cows. Of these, 22 were euthanized intraoperatively because of severe lesions. In 27 cows, intestinal massage to reduce the size of blood clots was carried out; 11 were euthanized several days postoperatively because of deterioration in condition. In three other cows, intestinal resection was carried out and all survived. Of the 63 cows, 19 (30.2%) survived and were healthy at the time of discharge from the clinic.

  14. Pyogenic granuloma in relation to dental implants: Clinical and histopathological findings

    PubMed Central

    Pinas, Laura

    2015-01-01

    Background The occurrence of pyogenic granuloma in association to dental implants is rare and only five cases have been reported in the literature. Material and Methods Patients charts were analyzed to select patients who had been diagnosed for pyogenic granuloma and its association with dental implants had been evaluated. The clinical status of the dental implants and the prosthesis had also been assessed. Results Clinical and histopathological diagnosis of pyogenic granuloma had been reached for soft mass growth in association with dental implants in 10 patients. Histological analysis of all samples was performed to obtain a firm diagnosis of finding against pyogenic granuloma lesions. Accumulation of dental plaque due to poor oral hygiene and improper design of the prosthesis had been related to the occurrence of pyogenic granuoloma. This lesion showed no predilection to specific surface type and had no significant association with marginal bone loss. Conclusions Pyogenic granuloma should be included in the differential diagnosis of soft mass growth around dental implants. Key words:Reactive lesion, soft mass, pyogenic granuloma, dental implant, titanium. PMID:26535087

  15. Adrenal Histologic Findings Show No Difference in Clinical Presentation and Outcome in Primary Hyperaldosteronism

    PubMed Central

    Weisbrod, Allison B.; Webb, Richard C.; Mathur, Aarti; Barak, Stephanie; Abraham, Smita Baid; Nilubol, Naris; Quezado, Martha; Stratakis, Constantine A.; Kebebew, Electron

    2012-01-01

    Background Primary hyperaldosteronism is most commonly due to a solitary cortical adenoma. Thus, some surgeons have suggested a subtotal adrenalectomy is a reasonable approach when a mass can be identified. On the other hand, adrenal vein sampling (AVS) is being used more frequently to distinguish patients with unilateral disease for adrenalectomy, even if a discrete mass is not identified on axial imaging. In these cases, surgical pathology may reveal a cortical adenoma, a cortical adenoma with hyperplasia, or cortical hyperplasia. The goal of this study was to compare the presentation and outcome among patients undergoing adrenalectomy and found to have different histologic features. Methods We performed a retrospective analysis of 136 patients with primary hyperaldosteronism. Ninety-five patients had an adrenalectomy for unilateral disease. The preoperative clinical and laboratory, and postoperative outcome of three aforementioned histologic groups were compared. Results Ninety-five patients underwent an adrenalectomy. We found no significant difference in age, gender, body mass index, duration of hypertension, number of antihypertensive medications, serum aldosterone level, serum renin level or adrenal vein sampling ratios among the 3 histologic categories. We also found no significant difference among the three categories in postoperative cure rate. Conclusion The rate of unilateral hyperplasia in patients with primary hyperaldosteronism (16%) is likely higher than previously reported which may be due to the increasing use of AVS. The clinical presentation and outcome of patients regardless of the histologic findings are similar. Our data also suggests that subtotal adrenalectomy would not be appropriate in patients with primary aldosteronism. PMID:23090573

  16. Neutrophilic Bronchial Inflammation Correlates with Clinical and Functional Findings in Patients with Noncystic Fibrosis Bronchiectasis

    PubMed Central

    Dente, Federico L.; Bilotta, Marta; Bartoli, Maria Laura; Bacci, Elena; Cianchetti, Silvana; Latorre, Manuela; Malagrinò, Laura; Nieri, Dario; Roggi, Maria Adelaide; Vagaggini, Barbara; Paggiaro, Pierluigi

    2015-01-01

    Background. Neutrophilic bronchial inflammation is a main feature of bronchiectasis, but not much is known about its relationship with other disease features. Aim. To compare airway inflammatory markers with clinical and functional findings in subjects with stable noncystic fibrosis bronchiectasis (NCFB). Methods. 152 NFCB patients (62.6 years; females: 57.2%) underwent clinical and functional cross-sectional evaluation, including microbiologic and inflammatory cell profile in sputum, and exhaled breath condensate malondialdehyde (EBC-MDA). NFCB severity was assessed using BSI and FACED criteria. Results. Sputum neutrophil percentages inversely correlated with FEV1 (P < 0.0001; rho = −0.428), weakly with Leicester Cough Questionnaire score (P = 0.068; rho = −0.58), and directly with duration of the disease (P = 0.004; rho = 0.3) and BSI severity score (P = 0.005; rho = 0.37), but not with FACED. Sputum neutrophilia was higher in colonized subjects, P. aeruginosa colonized subjects showing greater sputum neutrophilia and lower FEV1. Patients with ≥3 exacerbations in the last year showed a significantly greater EBC-MDA than the remaining patients. Conclusions. Sputum neutrophilic inflammation and biomarkers of oxidative stress in EBC can be considered good biomarkers of disease severity in NCFB patients, as confirmed by pulmonary function, disease duration, bacterial colonization, BSI score, and exacerbation rate. PMID:26819500

  17. Oral self-injuries: Clinical findings in a series of 19 patients

    PubMed Central

    Cannavale, Rosangela; Itro, Angelo; Campisi, Giuseppina; Compilato, Domenico

    2015-01-01

    Objectives: Self-injury (SI) is defined as a behavioral disturbance consisting of a deliberate harm to one’s own body without suicidal intent, it is not uncommon and ranges in severity from simple nail-biting to more extreme forms of self-mutilation. The head neck region may be the target of such lesions. SI is associated with several medical conditions, of which it can represent the first clinical sign. Aim of this paper is to describe a series of oral SI, giving special emphasis to the clinical findings, etiology and the management of lesions. Material and Methods: A total of 19 patients with oral SI were prospectively examined; attention was paid to the occurrence and characterization of oral lesions. The management of the lesion also varied depending on the patient medical history, on the etiology of the psychiatric behavior, and on the severity, frequency, and method of inflicting injury. Periodic examinations were performed (after two weeks, three months and six months) and registered. Results: All the patients healed gradually and healing was conditioned by the disease underlying. The treatment consisted of behavior modification in 11 cases, pharmacological treatment in 11 cases, psychotherapy in 2 cases, mouth guard in 9 cases, surgery in 2 cases, extractions in 1 case. Conclusions: Oral SI are uncommon in the clinical practice. They may be associated with a known disease or may be the consequence of this, but often they may be the first sign of a psychiatric disorder. Key words:Oral self-mutilation, self-inflicted lesions, self-injurious behavior, ulcers, Obsessive-Compulsive Disorder, mental retardation. PMID:25475766

  18. Report of a new case with pentasomy X and novel clinical findings

    PubMed Central

    Demirhan, O; Tanriverdi, N; Yilmaz, MB; Kocaturk-Sel, S; Inandiklioglu, N; Luleyap, U; Akbal, E; Comertpay, G; Tufan, T; Dur, O

    2015-01-01

    Pentasomy X is an extremely rare sex chromosome abnormality, a condition that only affects females, in which three more X chromosomes are added to the normally present two chromosomes in females. We investigated the novel clinical findings in a 1-year-old female baby with pentasomy X, and determined the parental origins of the X chromosomes. Our case had thenar atrophy, postnatal growth deficiency, developmental delay, mongoloid slant, microcephaly, ear anomalies, micrognathia and congenital heart disease. A conventional cytogenetic technique was applied for the diagnosis of the polysomy X, and quantitative fluorescent polymerase chain reaction (QF-PCR) using 11 inherited short tandem repeat (STR) alleles specific to the chromosome X for the determination of parental origin of X chromosomes. A cytogenetic evaluation revealed that the karyotype of the infant was 49,XXXXX. Comparison of the infant’s features with previously reported cases indicated a clinically recognizable specific pattern of malformations referred to as the pentasomy X syndrome. However, to the best of our know-ledge, this is the first report of thenar atrophy in a patient with 49,XXXXX. The molecular analysis suggested that four X chromosomes of the infant originated from the mother as a result of the non disjunction events in meiosis I and meiosis II. We here state that the clinical manifestations seen in our case were consistent with those described previously in patients with pentasomy X. The degree of early hypotonia constitutes an important early prognostic feature in this syndrome. The pathogenesis of pentasomy X is not clear at present, but it is thought to be caused by successive maternal non disjunctions. PMID:26929910

  19. Intraligamentous ganglion cysts of the anterior cruciate Ligament: MR findings with clinical and arthroscopic correlations

    SciTech Connect

    Do-Dai, D.D.; Youngberg, R.A.; Lanchbury, F.D.; Pitcher, J.D. Jr.; Garver, T.H.

    1996-01-01

    Magnetic resonance findings with clinical and arthroscopic correlation of intraligamentous cysts of the anterior cruciate ligament (ACL) are presented. Three cases of intraligamentous cysts of the ACL were identified out of 681 knee MRI examinations over a 2-year period. Arthroscopy and postoperative MRI were performed in all three patients, each of whom experienced knee pain with extreme flexion and extension. In all three cases the intraligamentous cyst was homogeneously hypointense on T1-weighted imaging and hyperintense on T2-weighted imaging relative to the ACL. Two of the three ACL cysts required a 70{degrees} scope for adequate visualization and establishment of posteromedial and posterolateral portals for arthroscopic treatment. One cyst could not be visualized arthroscopically and probing of the ACL from the anterior portal resulted in drainage of the cyst. No patient had presence of ACL cyst on follow-up MRI or recurrence of symptoms at a mean of 24 months. Intraligamentous cyst of ACL is a rare cause of knee pain. It should be suspected in patients having chronic pain with extremes of motion. Magnetic resonance findings are diagnostic and help to guide arthroscopy. 14 refs., 3 figs.

  20. Expanding the basic science debate: the role of physics knowledge in interpreting clinical findings.

    PubMed

    Goldszmidt, Mark; Minda, John Paul; Devantier, Sarah L; Skye, Aimee L; Woods, Nicole N

    2012-10-01

    Current research suggests a role for biomedical knowledge in learning and retaining concepts related to medical diagnosis. However, learning may be influenced by other, non-biomedical knowledge. We explored this idea using an experimental design and examined the effects of causal knowledge on the learning, retention, and interpretation of medical information. Participants studied a handout about several respiratory disorders and how to interpret respiratory exam findings. The control group received the information in standard "textbook" format and the experimental group was presented with the same information as well as a causal explanation about how sound travels through lungs in both the normal and disease states. Comprehension and memory of the information was evaluated with a multiple-choice exam. Several questions that were not related to the causal knowledge served as control items. Questions related to the interpretation of physical exam findings served as the critical test items. The experimental group outperformed the control group on the critical test items, and our study shows that a causal explanation can improve a student's memory for interpreting clinical details. We suggest an expansion of which basic sciences are considered fundamental to medical education.

  1. Ethanol-Associated Changes in Glutamate Reward Neurocircuitry: A Minireview of Clinical and Preclinical Genetic Findings.

    PubMed

    Bell, Richard L; Hauser, Sheketha R; McClintick, Jeanette; Rahman, Shafiqur; Edenberg, Howard J; Szumlinski, Karen K; McBride, William J

    2016-01-01

    Herein, we have reviewed the role of glutamate, the major excitatory neurotransmitter in the brain, in a number of neurochemical, -physiological, and -behavioral processes mediating the development of alcohol dependence. The findings discussed include results from both preclinical as well as neuroimaging and postmortem clinical studies. Expression levels for a number of glutamate-associated genes and/or proteins are modulated by alcohol abuse and dependence. These changes in expression include metabotropic receptors and ionotropic receptor subunits as well as different glutamate transporters. Moreover, these changes in gene expression parallel the pharmacologic manipulation of these same receptors and transporters. Some of these gene expression changes may have predated alcohol abuse and dependence because a number of glutamate-associated polymorphisms are related to a genetic predisposition to develop alcohol dependence. Other glutamate-associated polymorphisms are linked to age at the onset of alcohol-dependence and initial level of response/sensitivity to alcohol. Finally, findings of innate and/or ethanol-induced glutamate-associated gene expression differences/changes observed in a genetic animal model of alcoholism, the P rat, are summarized. Overall, the existing literature indicates that changes in glutamate receptors, transporters, enzymes, and scaffolding proteins are crucial for the development of alcohol dependence and there is a substantial genetic component to these effects. This indicates that continued research into the genetic underpinnings of these glutamate-associated effects will provide important novel molecular targets for treating alcohol abuse and dependence. PMID:26809998

  2. Atypical clinical and pathological findings in a patient with isolated cortical vein thrombosis★

    PubMed Central

    Ding, Yan; Fredrickson, Vance; Lin, Yicong; Piao, Yueshan; Wang, Xiangbo; Lu, Dehong; Li, Cunjiang

    2012-01-01

    Isolated cortical vein thrombosis often produces a focal lesion. Because of the rapid development of collateral circulation, increased intracranial pressure has never been reported in a patient with isolated cortical vein thrombosis. The diagnosis of isolated cortical vein thrombosis is based mainly on MRI, catheter digital subtraction angiography, and histological findings, but may be challenging. We report a patient who presented with intermittent seizures and left-sided limb weakness. Her symptoms gradually progressed, and she eventually developed signs of increased intracranial pressure. Imaging studies showed a space-occupying lesion in the right frontal lobe of the brain. As we could not diagnose isolated cortical vein thrombosis based on the preoperative findings, surgical excision of the lesion was performed under general anesthesia. Histological examination showed destruction of the brain parenchyma with infiltration of macrophages, proliferation of reactive astrocytes and small vessels, and foci of hemorrhage. Further examination found that a number of small vessels in both the subarachnoid space and brain parenchyma were filled with thrombus, some of which was organized. Elastic fiber staining showed that the obstructed vessels were veins. We diagnosed isolated cortical vein thrombosis with atypical clinical features. PMID:25337098

  3. Diffuse metastasis to the thyroid: unique ultrasonographic finding and clinical correlation.

    PubMed

    Kim, Hee Kyung; Kim, Sung Sun; Oak, Chan Young; Kim, Soo Jeong; Yoon, Jee Hee; Kang, Ho-Cheol

    2014-06-01

    Cases of metastases to the thyroid gland seem to be increasing in recent years. The clinical and ultrasonographic findings of diffuse metastases have been sparsely reported. Thirteen cases of diffuse metastases to the thyroid gland were documented by thyroid ultrasonography-guided fine needle aspiration cytology between 2004 and 2013. We retrospectively reviewed the patients with diffuse thyroid metastases. The most common primary site was the lung (n=9), followed by unknown origin cancers (n=2), cholangiocarcinoma (n=1), and penile cancer (n=1). Eleven patients were incidentally found to have thyroid metastases via surveillance or staging FDG-PET. Other 2 patients were diagnosed during work-up for hypothyroidism and palpable cervical lymph nodes. On ultrasonography, the echogenicity of the enlarged thyroid gland was heterogeneously hypoechoic or isoechoic, and reticular pattern internal hypoechoic lines were observed without increased vascularity found by power Doppler ultrasonography (3 right lobe, 2 left lobe, and 8 both lobes). In the 8 patients who had involvement of both lobes, 3 had hypothyroidism. In conclusion, ultrasonographic finding of diffuse metastasis is a diffusely enlarged heterogeneous thyroid with reticular pattern internal hypoechoic lines. Thyroid function testing should be performed in all patients with diffuse thyroid metastases, especially those with bilateral lobe involvement. PMID:24932084

  4. Clinical and pathological findings of concurrent poxvirus lesions and aspergillosis infection in canaries

    PubMed Central

    Reza, Kheirandish; Nasrin, Askari; Mahmoud, Salehi

    2013-01-01

    Objective To investigate clinical, pathological and mycological findings in canaries, in which pox lesions and Aspergillus fumigatus (A. fumigatus) infection were observed simultaneously. Methods This study was performed on a breeding colony (about 100 canaries) affected by fatal wasting disease. Necropsy was undertaken on 10 severely affected canaries, and gross lesions were recorded. Samples from internal organs displaying lesions were obtained for histopathological evaluation. Tracheal swap samples of internal organs of the all infected animals with lesions at necropsy were cultured in Sabouraud Dextrose Agar for mycological examination. Results At necropsy, caseous foci were determined in the lungs, on the air sacs, liver, spleen, heart. Swelling of the eyelids, diffuse hemorrhages in the subcutaneous tissue with small papular lesions of the skin were other typical necropsy findings. Histopathologically, pathognomonic eosinophilic intracytoplasmic inclusion bodies, which called Bollinger bodies, in both skin cells and vacuolated air way epithelial cells confirmed canary pox infection. Moreover, histopathological examination of the white-yellowish caseous foci revealed necrotic granulomatous reaction consisting of macrophages, heterophil leukocytes and giant cells encapsulated with a fibrous tissue. After the culture of the tissue samples, the formation of bluish green colonies confirmed A. fumigatus infection. Conclusions Canary pox has been known as the disease that can result in high losses in a short time, as a re-emerging disease that has not been present during recent years in canary flocks in Iran. So, the current paper provides useful information to prevent misdiagnosed of canary pox disease which can cause secondary mycotic infection. PMID:23620834

  5. Changes in Heart Rate Variability after Coronary Artery Bypass Grafting and Clinical Importance of These Findings

    PubMed Central

    Lakusic, Nenad; Mahovic, Darija; Cerkez Habek, Jasna; Novak, Miroslav; Cerovec, Dusko

    2015-01-01

    Heart rate variability is a physiological feature indicating the influence of the autonomic nervous system on the heart rate. Association of the reduced heart rate variability due to myocardial infarction and the increased postinfarction mortality was first described more than thirty years ago. Many studies have unequivocally demonstrated that coronary artery bypass grafting surgery generally leads to significant reduction in heart rate variability, which is even more pronounced than after myocardial infarction. Pathophysiologically, however, the mechanisms of heart rate variability reduction associated with acute myocardial infarction and coronary artery bypass grafting are different. Generally, heart rate variability gradually recovers to the preoperative values within six months of the procedure. Unlike the reduced heart rate variability in patients having sustained myocardial infarction, a finding of reduced heart rate variability after coronary artery bypass surgery is not considered relevant in predicting mortality. Current knowledge about changes in heart rate variability in coronary patients and clinical relevance of such a finding in patients undergoing coronary artery bypass grafting are presented. PMID:26078960

  6. Clinical and image findings in bisphosphonate-related osteonecrosis of the jaws.

    PubMed

    Farias, Diogo Silva; Zen Filho, Edson Virgilio; de Oliveira, Thais Feitosa Leitão; Tinôco-Araújo, José Endrigo; Sampieri, Marcelo Bonifácio da Silva; Antunes, Heliton Spíndola; Santos, Paulo Sérgio da Silva

    2013-07-01

    Bisphosphonate-related osteonecrosis of the jaws (BRONJ) is characterized as exposed bone in the jaws for more than 8 weeks in patients with current or previous history of therapy with bisphosphonates (BPs) and no history of radiotherapy in the head and neck. We report a case series of 7 patients with BRONJ and analyze the variations of clinical and imaging signs, correlating them with the presence or absence of bone exposure. Among the patients, 6 were women and 1 was a man, aged 42-79 years. Five of the patients were using zoledronic acid and the other 2 alendronate. The use of BPs varied from 3 to 13 years. In 5 patients, tooth extraction was the triggering event of injuries. Panoramic radiographs and computed tomography (CT) were evaluated by a radiologist blinded to the cases. There were persistent unremodeled extraction socket even several months after tooth extraction in 3 of the cases that were consistent wit CT findings that also showed areas of osteosclerosis and osteolysis. Patients were treated according to the recommendations of the AAOMS, with surgical debridement and antibiotic coverage with amoxicillin in the symptomatic patients. The follow-up of these patients ranged from 8 to 34 months, with a good response to treatment. The image findings in this case series were not specific and showed no difference between each stages of BRONJ (AAOMS, 2009). The image features were similar in presence or absence of exposed bone.

  7. Ethanol-Associated Changes in Glutamate Reward Neurocircuitry: A Minireview of Clinical and Preclinical Genetic Findings.

    PubMed

    Bell, Richard L; Hauser, Sheketha R; McClintick, Jeanette; Rahman, Shafiqur; Edenberg, Howard J; Szumlinski, Karen K; McBride, William J

    2016-01-01

    Herein, we have reviewed the role of glutamate, the major excitatory neurotransmitter in the brain, in a number of neurochemical, -physiological, and -behavioral processes mediating the development of alcohol dependence. The findings discussed include results from both preclinical as well as neuroimaging and postmortem clinical studies. Expression levels for a number of glutamate-associated genes and/or proteins are modulated by alcohol abuse and dependence. These changes in expression include metabotropic receptors and ionotropic receptor subunits as well as different glutamate transporters. Moreover, these changes in gene expression parallel the pharmacologic manipulation of these same receptors and transporters. Some of these gene expression changes may have predated alcohol abuse and dependence because a number of glutamate-associated polymorphisms are related to a genetic predisposition to develop alcohol dependence. Other glutamate-associated polymorphisms are linked to age at the onset of alcohol-dependence and initial level of response/sensitivity to alcohol. Finally, findings of innate and/or ethanol-induced glutamate-associated gene expression differences/changes observed in a genetic animal model of alcoholism, the P rat, are summarized. Overall, the existing literature indicates that changes in glutamate receptors, transporters, enzymes, and scaffolding proteins are crucial for the development of alcohol dependence and there is a substantial genetic component to these effects. This indicates that continued research into the genetic underpinnings of these glutamate-associated effects will provide important novel molecular targets for treating alcohol abuse and dependence.

  8. [Case finding in family practice and neuropsychological diagnosis at a memory clinic].

    PubMed

    Monsch, Andreas U

    2015-04-01

    To improve early diagnosis of cognitive impairment in the elderly a case-finding strategy should be adopted: general practitioners should only examine "suspicious" patients with a very efficient tool. The BrainCheck, a new case-finding tool from Switzerland, comprises of three questions for the patient and the clock drawing test. In addition the family member fills out a short questionnaire. In a validation study with 113 patients and 70 cognitively healthy individuals the BrainCheck showed a correct classification rate of 89 % (sensitivity = 97 %; specificity = 82 %). Within the work of a memory clinic the neuropsychological assessment should use appropriately normed cognitive instruments, especially if one is to detect subtle cognitive impairment. DSM-5 proposes to replace the terms mild cognitive impairment and dementia with mild and severe neurocognitive disorder, respectively. A major improvement in DSM-5 is the list of cognitive domains, which need to be examined. However, no standardized or widely accepted tool exists today to assess the domain of social cognition. PMID:25791043

  9. Translation of genetic findings to clinical practice in juvenile myoclonic epilepsy.

    PubMed

    Thomas, Rhys H; Chung, Seo-Kyung; Hamandi, Khalid; Rees, Mark I; Kerr, Michael P

    2013-03-01

    It has been estimated that JME (juvenile myoclonic epilepsy), when compared to other adult epilepsy syndromes, is most likely to have a genetic cause. However, decades of research have not brought us closer to finding a single 'JME gene' that is important on a population basis. Is this due in part to the genetic complexity of the syndrome, the cryptic nature of the genes of effect, or perhaps because JME is not one condition at all but many? Before we can begin to harness the power of next-generation sequencing techniques, we must first reduce JME down to lacunae of homogeneity--using increasingly more sophisticated phenotyping tools. The current technological advances in gene sequencing have been used to dramatic effect to identify single gene causes in rare syndromes and identify risk variants in malignancies. Filtering the variety of the human exome or genome down into a handful of biologically plausible candidates now relies on a pipeline of biostatistics, software, and functional analyses. It is simply unacceptable to return uncertain findings to the clinical domain and, therefore, it is crucial that pathogenicity is fully determined before families receive genetic counseling and test results.

  10. West Nile virus in raptors from Virginia during 2003: clinical, diagnostic, and epidemiologic findings.

    PubMed

    Joyner, Priscilla H; Kelly, Sean; Shreve, Allison A; Snead, Sarah E; Sleeman, Jonathan M; Pettit, Denise A

    2006-04-01

    Sixty-one birds of prey admitted to The Wildlife Center of Virginia (WCV; Waynesboro, Virginia, USA) from June to November 2003 were tested for West Nile virus (WNV) infection. Choanal and/or cloacal swabs were obtained and submitted to Virginia's Division of Consolidated Laboratory Services (Richmond, Virginia, USA) for analysis with real-time reverse transcriptase polymerase chain reaction (RT-PCR). Forty birds of prey were positive for WNV by RT-PCR. Five avian families and nine species of raptors were represented, with great horned owls (Bubo virginianus) and red-tailed hawks (Buteo jamaicensis) most frequently affected. Presenting clinical signs were consistent with previous reports of WNV infection in raptors; however, these differed between species. Of WNV positive birds, nonspecific signs of illness were the most common clinical findings, particularly in red-tailed hawks; signs included dehydration (n = 20), emaciation (n = 18), and depression (n = 15). Neurologic abnormalities were frequently identified, especially in great horned owls, and included head tremors (n = 17), ataxia (n = 13), head incoordination (n = 7), torticollis (n = 3), nystagmus (n = 3), and head tilt (n = 3). Great horned owls exhibited anemia and leukocytosis with heterophilia, eosinophilia, and monocytosis consistent with chronic inflammation. Red-tailed hawks were anemic with a heterophilic leukocytosis and regenerative left shift. The majority of WNV cases occurred during August and September; there was a marked increase in the number of raptors admitted to WCV during these months followed by a marked decrease during October, November, and December. This pattern differed from mean monthly admissions during the previous 10 years and suggests a negative impact on local raptor populations. The effects of WNV on avian populations are largely unknown; however, because of their ecological importance, further investigation of the effects of WNV on raptor populations is warranted. PMID

  11. Association of real-time sonoelastography findings with clinical parameters in lateral epicondylitis.

    PubMed

    Kocyigit, Figen; Kuyucu, Ersin; Kocyigit, Ali; Herek, Duygu Tuncer; Savkin, Raziye; Aslan, Ummuhan Bas; Karabulut, Nevzat

    2016-01-01

    The objective of this study was to investigate the role of real-time sonoelastography (RTSE) in patients with lateral epicondylitis (LE) and whether it is associated with clinical parameters. Seventeen patients with unilateral LE were enrolled in the study. The healthy elbows of the participants constituted the control group. Using B-mode ultrasound, color Doppler ultrasound, and RTSE, we prospectively examined 34 common extensor tendon elbows of 17 patients. Both color scales and strain ratio were used for evaluating RTSE images. Two radiologists evaluated the RTSE images separately. Elbow pain was scored on a 100-mm visual analog scale (VAS). Symptom duration and the presence of nocturnal pain were questioned. Quick disabilities of arm shoulder and hand (DASH) Questionnaire was applied to assess the pain, function, and disability. Nottingham health profile (NHP) was used to determine and quantify perceived health problems. Both color scales and strain ratios of the affected tendon portions were significantly different from that of healthy tendons (p < 0.001). There was no significant association between NHP, VAS, Quick DASH scores, and color scales and strain ratio. Strain ratio of the medial portion of the affected tendon was significantly correlated with symptom duration (rho = -0.61 p = 0.010) and nocturnal pain (rho = 0.522 p = 0.031). Interobserver agreement was substantial for color scales (κ = 0.74, p = 0.001) and strain ratio (ICC = 0.61, p = 0.031). RTSE may facilitate differentiation between healthy and affected elbows as a feasible and practical supplementary method with substantial interobserver agreement. RTSE was superior to B-mode ultrasound and color Doppler ultrasound in discriminating tendons with LE. Strain ratio of the medial portion of the tendon is associated moderately with nocturnal pain and symptom duration. No other associations were present between RTSE findings and clinical or functional parameters.

  12. Clinical, optical coherence tomography, and fundus autofluorescence findings in patients with intraocular tumors

    PubMed Central

    Samuelsson, Daniel; Sznage, Monika; Engelsberg, Karl; Wittström, Elisabeth

    2016-01-01

    Purpose To describe clinical, optical coherence tomography (OCT) and fundus autofluorescence (FAF) findings in patients with intraocular tumors and determine if OCT and FAF could be helpful in the differential diagnosis and management of different choroidal tumors. Methods Forty-nine patients with untreated, macular, midperipheral, and extrapapillary intraocular tumors were included. All patients underwent ophthalmic examination: best-corrected visual acuity, slit-lamp biomicroscopy, funduscopy, and standardized B mode, and if possible A mode, ultrasonography, and OCT and FAF imaging of the surface of the intraocular tumors. Results Of the 49 patients studied, 19 had choroidal nevi, ten had indeterminate choroidal melanocytic lesions (IMLs), ten had malignant melanomas, and ten had other choroidal tumors. The choroidal nevi revealed subretinal fluid (SRF) on OCT in only 11%. FAF detected isoauto-fluorescence in 42%, hypoautofluorescence in 37%, patchy FAF pattern in 16%, and a diffuse FAF pattern in 5%. Seventy percent of patients with IML showed SRF on OCT and 20% showed tumor growth on follow-up, detected only by OCT and FAF imaging. FAF revealed a patchy pattern in 50% and a diffuse pattern in 40% of cases with IML. Ninety percent of the patients with choroidal melanoma had SRF on OCT and FAF revealed a patchy pattern in 60% and a diffuse pattern in 40%. Patients with other choroidal tumors had SRF on OCT in 30% of cases and no characteristic pattern on FAF. Conclusion Both OCT and FAF were helpful in the differential diagnosis of choroidal nevi versus IMLs, choroidal melanomas, and other choroidal tumors. Also, detailed and periodical clinical evaluation of patients with intraocular tumors using OCT and FAF imaging for the detection of both SRF and FAF patterns overlying the tumor can be useful for detection of tumor growth. PMID:27784984

  13. Clinical and Muscle Imaging Findings in 14 Mainland Chinese Patients with Oculopharyngodistal Myopathy

    PubMed Central

    Zhao, Juan; Liu, Jing; Xiao, Jiangxi; Du, Jing; Que, Chengli; Shi, Xin; Liang, Wei; Sun, Weiping; Zhang, Wei; Lv, He; Yuan, Yun; Wang, Zhaoxia

    2015-01-01

    Oculopharyngodistal myopathy (OPDM) is an extremely rare, adult-onset hereditary muscular disease characterized by progressive external ocular, pharyngeal, and distal muscle weakness and myopathological rimmed vacuole changes. The causative gene is currently unknown; therefore, diagnosis of OPDM is based on clinical and histopathological features and genetic exclusion of similar conditions. Moreover, variable manifestations of this disorder are reported in terms of muscle involvement and severity. We present the clinical profile and magnetic resonance imaging (MRI) changes of lower limb muscles in 14 mainland Chinese patients with OPDM, emphasizing the role of muscle MRI in disease identification and differential diagnosis. The patients came from 10 unrelated families and presented with progressive external ocular, laryngopharyngeal, facial, distal limb muscle weakness that had been present since early adulthood. Serum creatine kinase was mildly to moderately elevated. Electromyography revealed myogenic changes with inconsistent myotonic discharge. The respiratory function test revealed subclinical respiratory muscle involvement. Myopathological findings showed rimmed vacuoles with varying degrees of muscular dystrophic changes. All known genes responsible for distal and myofibrillar myopathies, vacuolar myopathies, and muscular dystrophies were excluded by PCR or targeted next-generation sequencing. Muscle MRI revealed that the distal lower legs had more severe fatty replacement than the thigh muscles. Serious involvement of the soleus and long head of the biceps femoris was observed in all patients, whereas the popliteus, gracilis and short head of biceps femoris were almost completely spared, even in advanced stages. Not only does our study widen the spectrum of OPDM in China, but it also demonstrates that OPDM has a specific pattern of muscle involvement that may provide valuable information for its differential diagnosis and show further evidence supporting

  14. Hypnosis in the management of persistent idiopathic orofacial pain--clinical and psychosocial findings.

    PubMed

    Abrahamsen, Randi; Baad-Hansen, Lene; Svensson, Peter

    2008-05-01

    This controlled and patient blinded study tested the effect of hypnosis on persistent idiopathic orofacial pain (PIOP) in terms of clinical and psychosocial findings. Forty-one PIOP were randomized to active hypnotic intervention or simple relaxation as control for five individual 1-h sessions. Primary outcome was average pain intensity scored three times daily in a pain diary using visual analogue scale (VAS). Secondary outcome measures were pain quality assessed by McGill pain questionnaire (MPQ), psychological symptoms assessed by symptom check list (SCL), quality of life assessed by SF36, sleep quality, and consumption of analgesic. Data were compared between groups before and after treatment using ANOVA models and paired t-tests. The change in VAS pain scores from baseline to the last treatment (t4) was (33.1+/-7.4%) in the hypnosis group and (3.2+/-5.4%) in the control group (P<0.03). In the hypnosis group, highly hypnotic susceptible patients had greater decreases in VAS pain scores (55.0+/-12.3%) when compared to less susceptible patients (17.9+/-6.7%) (P<0.02). After the last treatment there were also statistically significant differences between groups in perceived pain area (MPQ) and the use of weak analgesics (P<0.03). There were no statistically significant changes in SCL or SF36 scores from baseline to t4. In conclusion, hypnosis seems to offer clinically relevant pain relief in PIOP, particularly in highly susceptible patients. However, stress coping skills and unresolved psychological problems need to be included in a comprehensive management plan in order also to address psychological symptoms and quality of life. PMID:17689192

  15. Clinical Findings of Asymptomatic Carpal Tunnel Syndrome in Patients With Diabetes Mellitus

    PubMed Central

    2016-01-01

    Objective To evaluate the clinical differences between patients with diabetes mellitus (DM) who have asymptomatic carpal tunnel syndrome (CTS) and those who have symptomatic CTS. Methods Sixty-three patients with DM were assessed using the Boston Carpal Tunnel Questionnaire (BCTQ), nerve conduction studies (NCS), and ultrasonographic evaluation of the cross-sectional area (CSA) of the median nerve. According to the BCTQ responses and NCS results, the patients were divided into the following three groups: group 1 (n=16), in which NCS results did not reveal CTS; group 2 (n=19), in which NCS results revealed CTS but the group scored 0 points on the BCTQ (asymptomatic); and group 3 (n=28), in which NCS results revealed CTS and the group scored >1 point on the BCTQ (symptomatic). The clinical findings, NCS results, and CSA of the median nerve were compared among the three groups. Results There were no significant differences in age, DM duration, glycated hemoglobin levels, and presence of diabetic polyneuropathy among the three groups. The peak latency of the median sensory nerve action potential was significantly shorter in group 1 than in groups 2 and 3 (p<0.001); however, no difference was observed between groups 2 and 3. CSA of the median nerve at the carpal tunnel in group 2 was significantly larger than that in group 1 and smaller than that in group 3 (p<0.05). Conclusion The results of our study suggest that the symptoms of CTS in patients with diabetes are related to CSA of the median nerve, which is consistent with swelling of the nerve. PMID:27446786

  16. Translating Clinical Findings into Knowledge in Drug Safety Evaluation - Drug Induced Liver Injury Prediction System (DILIps)

    PubMed Central

    Liu, Zhichao; Shi, Qiang; Ding, Don; Kelly, Reagan; Fang, Hong; Tong, Weida

    2011-01-01

    Drug-induced liver injury (DILI) is a significant concern in drug development due to the poor concordance between preclinical and clinical findings of liver toxicity. We hypothesized that the DILI types (hepatotoxic side effects) seen in the clinic can be translated into the development of predictive in silico models for use in the drug discovery phase. We identified 13 hepatotoxic side effects with high accuracy for classifying marketed drugs for their DILI potential. We then developed in silico predictive models for each of these 13 side effects, which were further combined to construct a DILI prediction system (DILIps). The DILIps yielded 60–70% prediction accuracy for three independent validation sets. To enhance the confidence for identification of drugs that cause severe DILI in humans, the “Rule of Three” was developed in DILIps by using a consensus strategy based on 13 models. This gave high positive predictive value (91%) when applied to an external dataset containing 206 drugs from three independent literature datasets. Using the DILIps, we screened all the drugs in DrugBank and investigated their DILI potential in terms of protein targets and therapeutic categories through network modeling. We demonstrated that two therapeutic categories, anti-infectives for systemic use and musculoskeletal system drugs, were enriched for DILI, which is consistent with current knowledge. We also identified protein targets and pathways that are related to drugs that cause DILI by using pathway analysis and co-occurrence text mining. While marketed drugs were the focus of this study, the DILIps has a potential as an evaluation tool to screen and prioritize new drug candidates or chemicals, such as environmental chemicals, to avoid those that might cause liver toxicity. We expect that the methodology can be also applied to other drug safety endpoints, such as renal or cardiovascular toxicity. PMID:22194678

  17. Athletic groin pain (part 1): a prospective anatomical diagnosis of 382 patients—clinical findings, MRI findings and patient-reported outcome measures at baseline

    PubMed Central

    Falvey, É C; King, E; Kinsella, S; Franklyn-Miller, A

    2016-01-01

    Background Athletic groin pain remains a common field-based team sports time-loss injury. There are few reports of non-surgically managed cohorts with athletic groin pain. Aim To describe clinical presentation/examination, MRI findings and patient-reported outcome (PRO) scores for an athletic groin pain cohort. Methods All patients had a history including demographics, injury duration, sport played and standardised clinical examination. All patients underwent MRI and PRO score to assess recovery. A clinical diagnosis of the injured anatomical structure was made based on these findings. Statistical assessment of the reliability of accepted standard investigations undertaken in making an anatomical diagnosis was performed. Result 382 consecutive athletic groin pain patients, all male, enrolled. Median time in pain at presentation was (IQR) 36 (16–75) weeks. Most (91%) played field-based ball-sports. Injury to the pubic aponeurosis (PA) 240 (62.8%) was the most common diagnosis. This was followed by injuries to the hip in 81 (21.2%) and adductors in 56 (14.7%) cases. The adductor squeeze test (90° hip flexion) was sensitive (85.4%) but not specific for the pubic aponeurosis and adductor pathology (negative likelihood ratio 1.95). Analysed in series, positive MRI findings and tenderness of the pubic aponeurosis had a 92.8% post-test probability. Conclusions In this largest cohort of patients with athletic groin pain combining clinical and MRI diagnostics there was a 63% prevalence of PA injury. The adductor squeeze test was sensitive for athletic groin pain, but not specific individual pathologies. MRI improved diagnostic post-test probability. No hernia or incipient hernia was diagnosed. Clinical trial registration number NCT02437942. PMID:26626272

  18. Classics Online.

    ERIC Educational Resources Information Center

    Clayman, Dee L.

    1995-01-01

    Appraises several databases devoted to classical literature. Thesaurus Linguae Graecae (TLG) contains the entire extant corpus of ancient Greek literature, including works on lexicography and historiography, extending into the 15th century. Other works awaiting completion are the Database of Classical Bibliography and a CD-ROM pictorial dictionary…

  19. Genetic analysis of clinical findings at health examinations of young Swedish warmblood riding horses

    PubMed Central

    2013-01-01

    Background Soundness is important for welfare and utility of the riding horse. Musculoskeletal disorders are the most common causes of interruption in training and of culling. Despite great importance, heritability of a majority of health traits in horses has previously not been estimated. The objective was to perform genetic analyses of medical and orthopaedic health traits in young riding horses, including estimates of heritability and genetic correlations between health traits, and to reveal possibilities for genetic evaluation of stallions for progeny health. Results The heritability of health traits was estimated using records from 8,238 Swedish warmblood riding horses examined as 4–5 year olds at the Riding Horse Quality Test in 1983–2005. The analyses were performed using multi-trait linear mixed animal models. The heritabilities of palpatory orthopaedic health (PALP), including effusion, swelling, heat, soreness and stiffness/atrophy, and hoof examination results (HOOF), of hoof shape and hoof wall quality, were 0.12 and 0.10, respectively. The genetic variation in these traits resulted in distinct health differences between progeny groups of stallions. The highest heritability among clinical signs of PALP was found for synovial effusions at 0.14. For systemic locations, joint related findings had the highest heritability; 0.13. The heritabilities of medical health and locomotion examination results were low, 0.02 and 0.04, respectively. A genetic improvement of health status has occurred over time but accounts only partly for the decrease in clinical findings of health during the studied period. Conclusions The genetic variation found in PALP and HOOF implies distinct differences between progeny groups. Thus, there are possibilities for improvement of these traits in the population through selection. The weak and non-significant correlation between PALP and HOOF suggests that both traits need to be selected for in practical breeding to improve both

  20. Polysomnographic Findings and Clinical Correlates in Huntington Disease: A Cross-Sectional Cohort Study

    PubMed Central

    Piano, Carla; Losurdo, Anna; Della Marca, Giacomo; Solito, Marcella; Calandra-Buonaura, Giovanna; Provini, Federica; Bentivoglio, Anna Rita; Cortelli, Pietro

    2015-01-01

    , Calandra-Buonaura G, Provini F, Bentivoglio AR, Cortelli P. Polysomnographic findings and clinical correlates in Huntington disease: a cross-sectional cohort study. SLEEP 2015;38(9):1489–1495. PMID:25845698

  1. Classical integrability

    NASA Astrophysics Data System (ADS)

    Torrielli, Alessandro

    2016-08-01

    We review some essential aspects of classically integrable systems. The detailed outline of the sections consists of: 1. Introduction and motivation, with historical remarks; 2. Liouville theorem and action-angle variables, with examples (harmonic oscillator, Kepler problem); 3. Algebraic tools: Lax pairs, monodromy and transfer matrices, classical r-matrices and exchange relations, non-ultralocal Poisson brackets, with examples (non-linear Schrödinger model, principal chiral field); 4. Features of classical r-matrices: Belavin–Drinfeld theorems, analyticity properties, and lift of the classical structures to quantum groups; 5. Classical inverse scattering method to solve integrable differential equations: soliton solutions, spectral properties and the Gel’fand–Levitan–Marchenko equation, with examples (KdV equation, Sine-Gordon model). Prepared for the Durham Young Researchers Integrability School, organised by the GATIS network. This is part of a collection of lecture notes.

  2. Classical integrability

    NASA Astrophysics Data System (ADS)

    Torrielli, Alessandro

    2016-08-01

    We review some essential aspects of classically integrable systems. The detailed outline of the sections consists of: 1. Introduction and motivation, with historical remarks; 2. Liouville theorem and action-angle variables, with examples (harmonic oscillator, Kepler problem); 3. Algebraic tools: Lax pairs, monodromy and transfer matrices, classical r-matrices and exchange relations, non-ultralocal Poisson brackets, with examples (non-linear Schrödinger model, principal chiral field); 4. Features of classical r-matrices: Belavin-Drinfeld theorems, analyticity properties, and lift of the classical structures to quantum groups; 5. Classical inverse scattering method to solve integrable differential equations: soliton solutions, spectral properties and the Gel’fand-Levitan-Marchenko equation, with examples (KdV equation, Sine-Gordon model). Prepared for the Durham Young Researchers Integrability School, organised by the GATIS network. This is part of a collection of lecture notes.

  3. Clinical, functional, and surgical findings in chronic bilateral otitis media with effusion in childhood.

    PubMed

    Diacova, Svetlana; McDonald, Thomas J; Ababii, Ion

    2016-08-01

    We conducted a prospective, observational study over a 3-year period to compare the clinical, functional, and surgical findings in children with chronic bilateral otitis media with effusion who underwent one of three different types of treatment. Our study population was made up of 150 patients-79 boys and 71 girls aged 24 to 84 months-who were randomly assigned to one of the three treatment groups of 50 patients each. One group was treated with myringotomy, tympanostomy tube insertion, and adenoidectomy (T+A group); another with a combination of physical conservative treatment and adenoidectomy (P+A group); and the third with physical conservative treatment alone (P-only group). Hearing levels and tympanogram trends were evaluated during a follow-up of 12 months. In the T+A group, we noted a stable normalization of hearing in 95 of the 100 ears. Treatment with the P+A combination resulted in an improvement of hearing in 79 ears, but the improvement was maintained in only 27 ears during 12 months of follow-up. In the group with the P-only regimen, an amelioration of hearing was registered in 76 ears, but it was unstable in all cases. A type A tympanogram was maintained during the follow-up period for 2 ears in the P+A group and for 4 ears in the P-only group. Myringotomy with a detailed examination of the tympanic cavity in all ears with prolonged abnormal audiologic results revealed that types C and B tympanograms, which were found in most ears in the P+A and P-only groups, corresponded to middle ear chronic inflammatory changes (retraction pockets, granulations, adhesions, etc.) Based on our findings, we conclude that the use of a physical conservative treatment with or without an adenoidectomy does not prevent the development of chronic adhesive and purulent otitis media. PMID:27551851

  4. Primary and secondary central nervous system vasculitis: clinical manifestations, laboratory findings, neuroimaging, and treatment analysis.

    PubMed

    Vera-Lastra, Olga; Sepúlveda-Delgado, Jesús; Cruz-Domínguez, María del Pilar; Medina, Gabriela; Casarrubias-Ramírez, Moisés; Molina-Carrión, Luis E; Pineda-Galindo, Luis F; Olvera-Acevedo, Arturo; Hernández-Gonzalez, Claudia; Jara, Luis J

    2015-04-01

    The objectives of this study are to compare the initial clinical, laboratory, and imaging features in primary central nervous system vasculitis (PCNSV) vs secondary central nervous system vasculitis (SCNSV) and follow up after treatment with intravenous cyclophosphamide (IV-CYC) plus glucocorticosteroids (GCS): methylprednisolone (MP). Neurological, laboratory, and neuroimaging findings were analyzed in PCNSV and SCNSV patients. Cerebral biopsy (CB) was performed in nine patients. Both groups received at onset MP plus IV-CYC for 6 months, followed by bimonthly IV-CYC plus prednisone (PND) for 12 months. All patients were followed during 36 months. Thirty patients were included (12 PCNSV and 18 SCNSV). Focal and non-focal neurological manifestations were similar in both groups, headache being the most frequent manifestation in both groups. Fatigue, myalgias, arthralgias, neuropathy, low leukocytes and platelets, elevated erythrocyte sedimentation rate, positive antinuclear antibodies (ANA), anti-double-stranded DNA (dsDNA), antineutrophil cytoplasmic antibodies (ANCA), low complement, and rheumatoid factor were more frequent in SCNSV (p < 0.05). In cerebrospinal fluid, pleocytosis and proteins were higher in PCNSV (p < 0.05). Periventricular and subcortical hyperintense lesions were observed in cranial magnetic resonance imaging in both vasculitides. Cerebral angiography and angioresonance showed narrowing of vasculature in all patients in both groups. CB showed gliosis and lymphocytic infiltration within and around the walls in four patients and granulomatous infiltration in the other patients. After treatment, the Kaplan-Meier survival curve showed a higher relapse-free survival in PCNSV (p < 0.05). Neurological manifestations and neuroimaging findings were similar in both groups of vasculitides, but general symptoms, joint, musculoskeletal, and peripheral neuropathy were preponderant in SCNSV. After treatment with IV-CYC and GCS, patients with PCNSV

  5. Clinical Strategy for Optimal Traditional Chinese Medicine (TCM) Herbal Dose Selection in Disease Therapeutics: Expert Consensus on Classic TCM Herbal Formula Dose Conversion.

    PubMed

    Zha, Lin-Hua; He, Li-Sha; Lian, Feng-Mei; Zhen, Zhong; Ji, Hang-Yu; Xu, Li-Peng; Tong, Xiao-Lin

    2015-01-01

    The clinical therapeutics of traditional Chinese medicine (TCM) constitutes a complicated process which involves theory, diagnosis, and formula prescription with specific herbal dosage. Zhang Zhong-Jing's classic work, Treatise on Febrile and Miscellaneous Diseases, has been influencing TCM practice for almost 2000 years. However, during this extended period of time in Chinese history, the Chinese weight measurement system experienced noticeable changes. This change in the weight measurement system inevitably, and perhaps even negatively, affected TCM herbal dosage determination and treatment outcome. Thus, in modern society, a full understanding of the accuracy of herbal dose selection has a critical importance in the TCM daily practice of delivering the best treatment to the patients suffering from different illnesses. In the 973 Project of the Chinese National Basic Research Program, expert consensus on classic TCM formula dose conversion has been reached based on extensive literature review and discussion on the dose-effect relationship of classic TCM formulas. One "liang" in classic TCM formulas is equivalent to 13.8 g. However, based on many TCM basic and clinical studies of variable herbal formula prescriptions and herbal drug preparations, the rule of one liang equals 13.8 g should be adjusted according to different disease conditions. Recommended by the committee on TCM formula dose-effect relationship of the China Association of Chinese Medicine and the World Federation of Chinese Medicine Societies, the following expert consensus has been reached: (i) One liang converts to 6-9 g for the severely and critically ill patients. (ii) One liang converts to 3-6 g for the patients suffering from chronic diseases. (iii) One liang converts to 1-3 g in preventive medicine. The above conversions should be used as a future TCM practice guideline. Using this recommended guideline should enhance the effectiveness of daily TCM practice.

  6. Transient 5-oxoprolinuria and high anion gap metabolic acidosis: clinical and biochemical findings in eleven subjects.

    PubMed

    Pitt, J J; Hauser, S

    1998-07-01

    We describe biochemical and clinical features of 11 subjects (ages, 1.2-84 years, nine females and two males) with transient 5-oxoprolinuria (0.6-23.6 mol/mol of creatinine, reference range <0.07). A variety of conditions preceded the onset of acidosis, and all had taken acetaminophen (paracetamol), although in therapeutic amounts in most subjects. Metabolic acidosis was documented in nine subjects, and all had an increased anion gap and abnormal liver functions. 5-Oxoproline was the major urinary organic acid in five subjects, whereas the rest had more complex profiles comprising 5-oxoproline and other organic acids, such as lactate, 3-hydroxybutyrate, and 4-hydroxyphenyl lactate. The 5-oxoproline was predominantly of the L-configuration. One subject died during an acidotic episode, and the rest recovered with no apparent long-term ill effects. Urinary 5-oxoproline was within the reference range in six subjects that were re-tested after the anion gap normalized. These findings suggest that acetaminophen, in association with other unidentified factors, is involved in the development of this condition through a mechanism of depletion of liver glutathione stores.

  7. The Role of Serotonin (5-HT) in Behavioral Control: Findings from Animal Research and Clinical Implications.

    PubMed

    Sanchez, C L; Biskup, C S; Herpertz, S; Gaber, T J; Kuhn, C M; Hood, S H; Zepf, F D

    2015-05-19

    The neurotransmitters serotonin and dopamine both have a critical role in the underlying neurobiology of different behaviors. With focus on the interplay between dopamine and serotonin, it has been proposed that dopamine biases behavior towards habitual responding, and with serotonin offsetting this phenomenon and directing the balance toward more flexible, goal-directed responding. The present focus paper stands in close relationship to the publication by Worbe et al. (2015), which deals with the effects of acute tryptophan depletion, a neurodietary physiological method to decrease central nervous serotonin synthesis in humans for a short period of time, on the balance between hypothetical goal-directed and habitual systems. In that research, acute tryptophan depletion challenge administration and a following short-term reduction in central nervous serotonin synthesis were associated with a shift of behavioral performance towards habitual responding, providing further evidence that central nervous serotonin function modulates the balance between goal-directed and stimulus-response habitual systems of behavioral control. In the present focus paper, we discuss the findings by Worbe and colleagues in light of animal experiments as well as clinical implications and discuss potential future avenues for related research.

  8. Human African trypanosomiasis with 7-year incubation period: clinical, laboratory and neuroimaging findings.

    PubMed

    Wengert, Oliver; Kopp, Marcel; Siebert, Eberhard; Stenzel, Werner; Hegasy, Guido; Suttorp, Norbert; Stich, August; Zoller, Thomas

    2014-06-01

    Human African trypanosomiasis (HAT), also referred to as "sleeping sickness", is caused by the parasite Trypanosoma brucei. Diagnosing imported HAT outside endemic areas is difficult and diagnosis is often delayed. We report a case of imported human African trypanosomiasis caused by Trypanosoma brucei gambiense with an unusually long incubation period of at least 7 years. A 33 year old male African patient, a former resident of Cameroon, presented with a 4-month history of progressive personality changes. A few weeks before presentation the patient had first been admitted to a psychiatric ward and received antidepressant treatment, until a lumbar puncture showed pleocytosis and then antibiotic treatment for suspected neuroborreliosis was initiated. The patient continued to deteriorate during antibiotic treatment and became increasingly lethargic. Under antiparasitic and anti-inflammatory treatment, the condition of the patient gradually improved over the following months and he recovered completely after 24 months of follow-up. This well-documented case illustrates typical difficulties in establishing the correct diagnosis outside endemic areas and provides an overview of typical clinical, neuropathological and neuroimaging findings in T. b. gambiense trypanosomiasis, guiding the clinician in establishing the correct diagnosis in this rare disease.

  9. Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings.

    PubMed

    Woods, C Geoffrey; Bond, Jacquelyn; Enard, Wolfgang

    2005-05-01

    Autosomal recessive primary microcephaly (MCPH) is a neurodevelopmental disorder. It is characterized by two principal features, microcephaly present at birth and nonprogressive mental retardation. The microcephaly is the consequence of a small but architecturally normal brain, and it is the cerebral cortex that shows the greatest size reduction. There are at least seven MCPH loci, and four of the genes have been identified: MCPH1, encoding Microcephalin; MCPH3, encoding CDK5RAP2; MCPH5, encoding ASPM; and MCPH6, encoding CENPJ. These findings are starting to have an impact on the clinical management of families affected with MCPH. Present data suggest that MCPH is the consequence of deficient neurogenesis within the neurogenic epithelium. Evolutionary interest in MCPH has been sparked by the suggestion that changes in the MCPH genes might also be responsible for the increase in brain size during human evolution. Indeed, evolutionary analyses of Microcephalin and ASPM reveal evidence for positive selection during human and great ape evolution. So an understanding of this rare genetic disorder may offer us significant insights into neurogenic mitosis and the evolution of the most striking differences between us and our closest living relatives: brain size and cognitive ability. PMID:15806441

  10. Rhino-orbital Mucormycosis: Clinical Findings and Treatment Outcomes of Four Cases

    PubMed Central

    Karadeniz Uğurlu, Şeyda; Selim, Sedat; Kopar, Aylin; Songu, Murat

    2015-01-01

    In this case report, we present the clinical findings and therapeutic outcomes of four rhino-orbital mucormycosis patients. The four patients (1 female, 3 male; age range, 55-77 years) all had diabetes mellitus and two also had chronic renal failure. All patients exhibited proptosis, sinusitis, and dark-colored lesions on the nasopharynx and/or hard palate; three patients had ipsilateral peripheral facial paralysis. Visual acuity was no light perception in the two patients with severe orbital involvement and 0.8 in two patients with limited orbital involvement. Histopathological examination of the hard palate, nasopharynx or sinus biopsy revealed typical Mucor hyphae. Systemic liposomal amphotericin B was initiated in all patients. The patients with limited ocular involvement received amphotericin B both intravenously and by local irrigation; both patients had complete recovery. The other two patients underwent orbital exenteration; one patient died after declining systemic treatment postoperatively. Rapid diagnosis and treatment are important for the survival of rhino-orbital mucormycosis patients. With orbital involvement, surgical debridement and systemic and local treatment with antifungal agents may help avoid mutilating surgery like exenteration. PMID:27800226

  11. Morbidity following Mexico City's 1985 earthquakes: clinical and epidemiologic findings from hospitals and emergency units.

    PubMed Central

    Sánchez-Carrillo, C I

    1989-01-01

    Medical records of 822 inpatients and outpatients cared for by the Department of the Federal District medical services during the 1985 Mexico City earthquakes were reviewed. Record incompleteness varied between 92.8 percent and 14.0 percent for the various study variables. No gender differences were detected among the groups; more than 70.0 percent of the patients were ages 15 to 64 years. Multiple traumatic injuries were frequent for inpatients across age groups, while simple contusions were more frequent among outpatients. Multiple head traumas, thorax-abdomen multiple traumas, and simple fractures of an arm or leg were more frequently recorded for inpatients than for outpatients. Head wounds with contusions; simple contusion of the thorax-abdomen, arms, and legs; and psychological trauma were more frequently recorded for outpatients. Although a great many records were incomplete, the data may reflect what actually happened to these patients, given the similarity of the findings with other reports of disasters. Improved record keeping during emergencies is needed to standardize the quantity and the reliability of the data so that statistical and medical care requirements are soundly based. The use of standard questionnaires for data collection is stressed to facilitate the management of clinical and epidemiologic activities. Longitudinal studies are needed to determine patterns of physical injuries, psychological trauma, and survival. PMID:2508177

  12. The Role of Serotonin (5-HT) in Behavioral Control: Findings from Animal Research and Clinical Implications

    PubMed Central

    Sanchez, CL; Biskup, CS; Herpertz, S; Gaber, TJ; Kuhn, CM; Hood, SH

    2015-01-01

    The neurotransmitters serotonin and dopamine both have a critical role in the underlying neurobiology of different behaviors. With focus on the interplay between dopamine and serotonin, it has been proposed that dopamine biases behavior towards habitual responding, and with serotonin offsetting this phenomenon and directing the balance toward more flexible, goal-directed responding. The present focus paper stands in close relationship to the publication by Worbe et al. (2015), which deals with the effects of acute tryptophan depletion, a neurodietary physiological method to decrease central nervous serotonin synthesis in humans for a short period of time, on the balance between hypothetical goal-directed and habitual systems. In that research, acute tryptophan depletion challenge administration and a following short-term reduction in central nervous serotonin synthesis were associated with a shift of behavioral performance towards habitual responding, providing further evidence that central nervous serotonin function modulates the balance between goal-directed and stimulus-response habitual systems of behavioral control. In the present focus paper, we discuss the findings by Worbe and colleagues in light of animal experiments as well as clinical implications and discuss potential future avenues for related research. PMID:25991656

  13. Targeting FAK in human cancer: from finding to first clinical trials.

    PubMed

    Golubovskaya, Vita M

    2014-01-01

    It is twenty years since Focal Adhesion Kinase (FAK) was found to be overexpressed in many types of human cancer. FAK plays an important role in adhesion, spreading, motility, invasion, metastasis, survival, angiogenesis, and recently has been found to play an important role as well in epithelial to mesenchymal transition (EMT), cancer stem cells and tumor microenvironment. FAK has kinase-dependent and kinase independent scaffolding, cytoplasmic and nuclear functions. Several years ago FAK was proposed as a potential therapeutic target; the first clinical trials were just reported, and they supported further studies of FAK as a promising therapeutic target. This review discusses the main functions of FAK in cancer, and specifically focuses on recent novel findings on the role of FAK in cancer stem cells, microenvironment, epithelial-to-mesenchymal transition, invasion, metastasis, and also highlight new approaches of targeting FAK and critically discuss challenges that lie ahead for its targeted therapeutics. The review provides a summary of translational approaches of FAK-targeted and combination therapies and outline perspectives and future directions of FAK research. PMID:24389213

  14. Demographic, clinical and laboratory findings among adult and pediatric patients hospitalized with dengue in the Philippines.

    PubMed

    Velasco, John Mark S; Alera, Ma Theresa P; Ypil-Cardenas, Charity Ann; Dimaano, Efren M; Jarman, Richard G; Chinnawirotpisan, Piyawan; Thaisomboonsuk, Butsaya; Yoon, In-Kyu; Cummings, Derek A; Mammen, Mammen P

    2014-03-01

    We evaluated the differences in demographic, clinical, and laboratory findings between adult and pediatric patients hospitalized with dengue fever. Ninety patients with dengue infection admitted at San Lazaro Hospital (SLH), Manila from September 2005 to January 2006 were included in the study. The cases were laboratory-confirmed to have dengue infection. The majority of dengue cases (92%) had secondary dengue infection (median age = 18, age range: 2-37) while the remainder (8%) had a primary dengue infection (median age = 12, age range: 7-22). Nearly all the patients (99%) had dengue hemorrhagic fever (DHF). Sixty-five of the cases (72%) had serotype data: 2 (3%) were dengue virus serotype 1 (DENV-1) (median age = 17), 12 (18%) had DENV-2 (median age = 17.5), 38 (59%) had DENV-3 (median age = 16) and 13 (20%) had DENV-4 (median age = 18). The initial signs, symptoms and laboratory results except hematocrit (p = 0.02) and hemoglobin (p = 0.02) did not differ significantly between adults and children. During the study period, half the cases were adults (218 years; n = 45) and half were children (<18 years; n = 45). The ages of cases ranged from 2 to 37 years (median = 17 years) and the peak incidence was 15-19 years. Dengue is often considered as a pediatric disease. Additional studies are needed to determine if an age shift is occurring and where.

  15. Dengue infections in the Philippines: clinical and virological findings in 517 hospitalized patients.

    PubMed

    Hayes, C G; Manaloto, C R; Gonzales, A; Ranoa, C P

    1988-07-01

    From May 1983 to January 1984, 517 patients with laboratory confirmed dengue were studied at a hospital in Manila. Secondary dengue infections were diagnosed in 78% of these cases. Peak admission (28%) occurred towards the end of the rainy season in November. Most patients (78%) were less than 15 years old but only 3 were infants. Although some type of hemorrhagic finding occurred in 460 cases (89%), only 110 were classified as dengue hemorrhagic fever and the remainder as dengue fever with hemorrhagic manifestations. The clinical course was usually mild. Gastrointestinal bleeding was present in 65 cases, but only 2 patients developed shock. No fatalities occurred. Dengue 2 was the predominant serotype with 53 isolates, followed by dengue 1 with 48 isolates, dengue 3 with 39 isolates, and dengue 4 with only 8 isolates. Dengue 2 was the only serotype with more isolates from sera with a homologous HI antibody titer greater than 1:20 (57%) than from sera with a homologous HI titer less than or equal to 1:20 (43%). In contrast, most of the dengue 1 isolates (63%) were from sera with a homologous HI antibody titer less than 1:10, and this serotype was strongly associated with primary infections. This study shows that dengue infections remain an important cause of pediatric hospitalization in the Philippines; however, the occurrence of life-threatening dengue hemorrhagic fever as has been described in several other large urban areas of Southeast Asia appears to be rare.

  16. Clinical and Radiographic Findings and Usefulness of Computed Tomographic Assessment in Two Children with Regional Odontodysplasia

    PubMed Central

    Matsuyama, Junko; Tanaka, Ray; Iizawa, Futabako; Sano, Tomiko; Kinoshita-Kawano, Shoko; Hayashi-Sakai, Sachiko; Mitomi, Tomoe

    2014-01-01

    Regional odontodysplasia is a rare, severe, and nonhereditary developmental disorder in tooth formation and involves epithelial and mesenchymal-derived dental tissue. On radiographs, affected teeth have an abnormal morphology, a hypoplastic crown, and only a faint outline of hard tissue, a condition termed “ghost teeth.” We report clinical and radiographic findings from two children with regional odontodysplasia. Using computed tomography (CT), we calculated attenuation coefficients (i.e., Hounsfield units) for affected teeth and assessed the condition of dental follicles. To measure density, regions of interest were delimited and CT values were calculated. In our two patients, the CT values for enamel were lower in affected teeth than in sound teeth, while CT values for dentin were similar for affected and sound teeth. The average CT value for dental follicles in affected teeth was about 65 to 120, which suggests that dense fibrous connective tissues or hard tissue-like structures might be present in dental follicles. Analysis of CT values may be quite useful in the diagnosis and treatment of regional odontodysplasia. PMID:25250179

  17. X-linked hypophosphatemic rickets: enamel abnormalities and oral clinical findings.

    PubMed

    Cremonesi, Ilaria; Nucci, Cesare; D'Alessandro, Giovanni; Alkhamis, Nadia; Marchionni, Silvia; Piana, Gabriela

    2014-01-01

    X-linked hypophosphatemia (XLH) is a genetic disorder related to alterations in bones and teeth formation, due to low levels of phosphate in blood. Oral findings in XLH have been enamel and dentine abnormalities, high pulp horns, large pulp chambers, and some cases of periapical abscesses related to teeth without caries or traumatic injuries. The aim of our study was to assess the presence of enamel alterations, such as microclefts and/or structure defects in patients with XLH and give guidelines of prevention of XLH dental complications. History taking, oral clinical and radiological examination in 10 young patients affected by XLH (average age of 9) and in 6 patients without XLH (average age of 8). Impressions were performed on the vestibular surfaces of teeth in order to obtain replicas. The replicas were analyzed using scanning electron microscope (SEM) and compared to replicas of control group. The images of replicas of XLH patients showed deep microclefts and irregular enamel surface structure compared to replicas of control group. The replica of a patient with spontaneous periapical abscesses showed numerous enamel crater-shaped depressions and deep microcleavages penetrating into the enamel thickness. In absence of caries or fractures, the abscesses pathogenesis may be related to microcleavages of the enamel and dentin, which allow bacterial invasion of the pulp. There could be a relationship between XLH disease and enamel abnormalities. PMID:24677288

  18. Clinic Design and Continuity in Internal Medicine Resident Clinics: Findings of the Educational Innovations Project Ambulatory Collaborative

    PubMed Central

    Francis, Maureen D.; Wieland, Mark L.; Drake, Sean; Gwisdalla, Keri Lyn; Julian, Katherine A.; Nabors, Christopher; Pereira, Anne; Rosenblum, Michael; Smith, Amy; Sweet, David; Thomas, Kris; Varney, Andrew; Warm, Eric; Wininger, David; Francis, Mark L.

    2015-01-01

    Background Many internal medicine (IM) programs have reorganized their resident continuity clinics to improve trainees' ambulatory experience. Downstream effects on continuity of care and other clinical and educational metrics are unclear. Methods This multi-institutional, cross-sectional study included 713 IM residents from 12 programs. Continuity was measured using the usual provider of care method (UPC) and the continuity for physician method (PHY). Three clinic models (traditional, block, and combination) were compared using analysis of covariance. Multivariable linear regression analysis was used to analyze the effect of practice metrics and clinic model on continuity. Results UPC, reflecting continuity from the patient perspective, was significantly different, and was highest in the block model, midrange in combination model, and lowest in the traditional model programs. PHY, reflecting continuity from the perspective of the resident provider, was significantly lower in the block model than in combination and traditional programs. Panel size, ambulatory workload, utilization, number of clinics attended in the study period, and clinic model together accounted for 62% of the variation found in UPC and 26% of the variation found in PHY. Conclusions Clinic model appeared to have a significant effect on continuity measured from both the patient and resident perspectives. Continuity requires balance between provider availability and demand for services. Optimizing this balance to maximize resident education, and the health of the population served, will require consideration of relevant local factors and priorities in addition to the clinic model. PMID:26217420

  19. “Information is Information”: A public perspective on incidental findings in clinical and research genome-based testing

    PubMed Central

    Daack-Hirsch, Sandra; Driessnack, Martha; Hanish, Alyson; Johnson, Vanessa A.; Shah, Lisa L.; Simon, Christian M.; Williams, Janet K.

    2015-01-01

    Background The potential for genomic incidental findings is increasing with the use of genome-based testing. At the same time approaches to clinical decision making are shifting to shared decision-making models involving both the healthcare community and the public. The public’s voice has been nearly absent in discussions on managing incidental findings. Methods We conducted 9 focus groups and 9 interviews (N=63) with a broad cross-section of lay public groups to elucidate public viewpoints on incidental findings that could occur as a result of genome-based testing in clinical and research situations. Data were analyzed using qualitative content analysis. Results Participants wanted incidental findings disclosed to them whether or not these were clinical or research findings. Participants used different terms to define and describe incidental findings; they wanted to know that incidental findings are possible and be given a choice to learn about them. Personal utility was an important reason for disclosure, and participants believed that managing information is a shared responsibility between professionals and themselves. Conclusion Broad public input is needed in order to understand and incorporate the public’s perspective on management of incidental findings as disclosure guidelines and policies are developed in clinical and research settings. PMID:23590238

  20. A hospital-wide clinical findings dictionary based on an extension of the International Classification of Diseases (ICD).

    PubMed Central

    Bréant, C.; Borst, F.; Campi, D.; Griesser, V.; Momjian, S.

    1999-01-01

    The use of a controlled vocabulary set in a hospital-wide clinical information system is of crucial importance for many departmental database systems to communicate and exchange information. In the absence of an internationally recognized clinical controlled vocabulary set, a new extension of the International statistical Classification of Diseases (ICD) is proposed. It expands the scope of the standard ICD beyond diagnosis and procedures to clinical terminology. In addition, the common Clinical Findings Dictionary (CFD) further records the definition of clinical entities. The construction of the vocabulary set and the CFD is incremental and manual. Tools have been implemented to facilitate the tasks of defining/maintaining/publishing dictionary versions. The design of database applications in the integrated clinical information system is driven by the CFD which is part of the Medical Questionnaire Designer tool. Several integrated clinical database applications in the field of diabetes and neuro-surgery have been developed at the HUG. Images Figure 1 PMID:10566451

  1. Correlation analyses of clinical and molecular findings identify candidate biological pathways in systemic juvenile idiopathic arthritis

    PubMed Central

    2012-01-01

    Background Clinicians have long appreciated the distinct phenotype of systemic juvenile idiopathic arthritis (SJIA) compared to polyarticular juvenile idiopathic arthritis (POLY). We hypothesized that gene expression profiles of peripheral blood mononuclear cells (PBMC) from children with each disease would reveal distinct biological pathways when analyzed for significant associations with elevations in two markers of JIA activity, erythrocyte sedimentation rate (ESR) and number of affected joints (joint count, JC). Methods PBMC RNA from SJIA and POLY patients was profiled by kinetic PCR to analyze expression of 181 genes, selected for relevance to immune response pathways. Pearson correlation and Student's t-test analyses were performed to identify transcripts significantly associated with clinical parameters (ESR and JC) in SJIA or POLY samples. These transcripts were used to find related biological pathways. Results Combining Pearson and t-test analyses, we found 91 ESR-related and 92 JC-related genes in SJIA. For POLY, 20 ESR-related and 0 JC-related genes were found. Using Ingenuity Systems Pathways Analysis, we identified SJIA ESR-related and JC-related pathways. The two sets of pathways are strongly correlated. In contrast, there is a weaker correlation between SJIA and POLY ESR-related pathways. Notably, distinct biological processes were found to correlate with JC in samples from the earlier systemic plus arthritic phase (SAF) of SJIA compared to samples from the later arthritis-predominant phase (AF). Within the SJIA SAF group, IL-10 expression was related to JC, whereas lack of IL-4 appeared to characterize the chronic arthritis (AF) subgroup. Conclusions The strong correlation between pathways implicated in elevations of both ESR and JC in SJIA argues that the systemic and arthritic components of the disease are related mechanistically. Inflammatory pathways in SJIA are distinct from those in POLY course JIA, consistent with differences in clinically

  2. Comparison of atypical Brachyspira spp. clinical isolates and classic strains in a mouse model of swine dysentery.

    PubMed

    Burrough, Eric; Strait, Erin; Kinyon, Joann; Bower, Leslie; Madson, Darin; Schwartz, Kent; Frana, Timothy; Songer, J Glenn

    2012-12-01

    Multiple Brachyspira spp. can colonize the porcine colon, and the presence of the strongly beta-hemolytic Brachyspira hyodysenteriae is typically associated with clinical swine dysentery. Recently, several Brachyspira spp. have been isolated from the feces of pigs with clinical disease suggestive of swine dysentery, yet these isolates were not identified as B. hyodysenteriae by genotypic or phenotypic methods. This study used a mouse model of swine dysentery to compare the pathogenic potential of seventeen different Brachyspira isolates including eight atypical clinical isolates, six typical clinical isolates, the standard strain of B. hyodysenteriae (B204), and reference strains of Brachyspira intermedia and Brachyspira innocens. Results revealed that strongly beta-hemolytic isolates induced significantly greater cecal inflammation than weakly beta-hemolytic isolates regardless of the genetic identification of the isolate, and that strongly beta-hemolytic isolates identified as 'Brachyspira sp. SASK30446' and B. intermedia by PCR produced lesions indistinguishable from those caused by B. hyodysenteriae in this model.

  3. Examiner Reliability of Fluorosis Scoring: A Comparison of Photographic and Clinical Examination Findings

    PubMed Central

    Cruz-Orcutt, Noemi; Warren, John J.; Broffitt, Barbara; Levy, Steven M.; Weber-Gasparoni, Karin

    2012-01-01

    Objective To assess and compare examiner reliability of clinical and photographic fluorosis examinations using the Fluorosis Risk Index (FRI) among children in the Iowa Fluoride Study (IFS). Methods The IFS examined 538 children for fluorosis and dental caries at age 13 and obtained intra-oral photographs from nearly all of them. To assess examiner reliability, duplicate clinical examinations were conducted for 40 of the subjects. In addition, 200 of the photographs were scored independently for fluorosis by two examiners in a standardized manner. Fluorosis data were compared between examiners for the clinical exams and separately for the photographic exams, and a comparison was made between clinical and photographic exams. For all 3 comparisons, examiner reliability was assessed using kappa statistics at the tooth level. Results Inter-examiner reliability for the duplicate clinical exams on the sample of 40 subjects as measured by kappa was 0.59, while the repeat exams of the 200 photographs yielded a kappa of 0.64. For the comparison of photographic and clinical exams, inter-examiner reliability, as measured by weighted kappa, was 0.46. FRI scores obtained using the photographs were higher on average than those obtained from the clinical exams. Fluorosis prevalence was higher for photographs (33%) than found for clinical exam (18%). Conclusion Results suggest inter-examiner reliability is greater and fluorosis scores higher when using photographic compared to clinical examinations. PMID:22316120

  4. Review of radiologic and clinical findings in the recombinant 8 syndrome.

    PubMed

    Williamson, S L; Clericuzio, C L

    1991-01-01

    The findings, including radiographic findings, in recombinant 8 syndrome, a rare syndrome in patients with an unbalanced partial duplication/partial deletion of chromosome 8, are described. In addition, the carrier status and heritability are discussed.

  5. Female Pathological Gamblers--A Critical Review of the Clinical Findings

    ERIC Educational Resources Information Center

    Wenzel, Hanne Gro; Dahl, Alv A.

    2009-01-01

    Recent evidence indicates that more and more women gamble and develop gambling problems and pathological gambling (PG). Research has further indicated that female and male PGs differ in their clinical characteristics. The aim of this study is to do a critical review of the literature concerning clinical characteristics of female pathological…

  6. [Chronic dizziness in elderly people: its clinical characteristics and magneto-encephalographic findings].

    PubMed

    Naritomi, Hiroaki

    2008-06-01

    Many elderly people complain dizziness which may continue occasionally for months or years. According to epidemiological studies, 25-29% of subjects with more than 60 years of age have the experience of dizziness. Dizziness occurs most commonly during head positional changes or walking. Clinical studies have indicated that causes of dizziness are nonspecific and multi-factorial; cerebrovascular diseases, cervical spondylosis, depressive state, poor vision, orthostatic hypotension, whiplash injury, or low cerebrospinal fluid syndrome may play a role in the development of dizziness. Patients with dizziness commonly have neck/shoulder pain, insomnia, left-right imbalance of visual acuity, scoliosis, white matter lesions on head MRI. Little, however, has yet been known as to how these symptoms and radiological findings are related to mechanisms of dizziness. During the last several years, we performed cerebral functional studies using auditory-evoked magneto-encephalography (MEG) in elderly people with chronic dizziness. Two types of functional abnormalities were found in dizziness patients. One is a rotational abnormality of MEG signals at the temporal cortex (Type A) which can be detected by current arrow mapping analysis. This abnormality is similar to that detected by non-evoked MEG in temporal lobe epilepsy patients. In patients with Type A abnormality, administration of anticonvulsants brought about dramatic improvement of dizziness in association with disappearance of rotational abnormalities. The other is abnormal prolongation of interhemispheric neural conduction time (INCT) between the left and right temporal cortices (Type B) which can be estimated from the difference of left and right N100 m peak latencies. The INCT was found to be prolonged correlating with the grade of white matter lesions on MRI. The INCT also seems to be prolonged by lack of sleep. Patients with Type B abnormality commonly have the asymmetry of body, such as left-right imbalance of

  7. Rock Finding

    ERIC Educational Resources Information Center

    Rommel-Esham, Katie; Constable, Susan D.

    2006-01-01

    In this article, the authors discuss a literature-based activity that helps students discover the importance of making detailed observations. In an inspiring children's classic book, "Everybody Needs a Rock" by Byrd Baylor (1974), the author invites readers to go "rock finding," laying out 10 rules for finding a "perfect" rock. In this way, the…

  8. Finding Cervical Cancer Symptoms in Swedish Clinical Text using a Machine Learning Approach and NegEx

    PubMed Central

    Weegar, Rebecka; Kvist, Maria; Sundström, Karin; Brunak, Søren; Dalianis, Hercules

    2015-01-01

    Detection of early symptoms in cervical cancer is crucial for early treatment and survival. To find symptoms of cervical cancer in clinical text, Named Entity Recognition is needed. In this paper the Clinical Entity Finder, a machine-learning tool trained on annotated clinical text from a Swedish internal medicine emergency unit, is evaluated on cervical cancer records. The Clinical Entity Finder identifies entities of the types body part, finding and disorder and is extended with negation detection using the rule-based tool NegEx, to distinguish between negated and non-negated entities. To measure the performance of the tools on this new domain, two physicians annotated a set of clinical notes from the health records of cervical cancer patients. The inter-annotator agreement for finding, disorder and body part obtained an average F-score of 0.677 and the Clinical Entity Finder extended with NegEx had an average F-score of 0.667. PMID:26958270

  9. Automatic recognition of disorders, findings, pharmaceuticals and body structures from clinical text: an annotation and machine learning study.

    PubMed

    Skeppstedt, Maria; Kvist, Maria; Nilsson, Gunnar H; Dalianis, Hercules

    2014-06-01

    Automatic recognition of clinical entities in the narrative text of health records is useful for constructing applications for documentation of patient care, as well as for secondary usage in the form of medical knowledge extraction. There are a number of named entity recognition studies on English clinical text, but less work has been carried out on clinical text in other languages. This study was performed on Swedish health records, and focused on four entities that are highly relevant for constructing a patient overview and for medical hypothesis generation, namely the entities: Disorder, Finding, Pharmaceutical Drug and Body Structure. The study had two aims: to explore how well named entity recognition methods previously applied to English clinical text perform on similar texts written in Swedish; and to evaluate whether it is meaningful to divide the more general category Medical Problem, which has been used in a number of previous studies, into the two more granular entities, Disorder and Finding. Clinical notes from a Swedish internal medicine emergency unit were annotated for the four selected entity categories, and the inter-annotator agreement between two pairs of annotators was measured, resulting in an average F-score of 0.79 for Disorder, 0.66 for Finding, 0.90 for Pharmaceutical Drug and 0.80 for Body Structure. A subset of the developed corpus was thereafter used for finding suitable features for training a conditional random fields model. Finally, a new model was trained on this subset, using the best features and settings, and its ability to generalise to held-out data was evaluated. This final model obtained an F-score of 0.81 for Disorder, 0.69 for Finding, 0.88 for Pharmaceutical Drug, 0.85 for Body Structure and 0.78 for the combined category Disorder+Finding. The obtained results, which are in line with or slightly lower than those for similar studies on English clinical text, many of them conducted using a larger training data set, show that

  10. Automatic recognition of disorders, findings, pharmaceuticals and body structures from clinical text: an annotation and machine learning study.

    PubMed

    Skeppstedt, Maria; Kvist, Maria; Nilsson, Gunnar H; Dalianis, Hercules

    2014-06-01

    Automatic recognition of clinical entities in the narrative text of health records is useful for constructing applications for documentation of patient care, as well as for secondary usage in the form of medical knowledge extraction. There are a number of named entity recognition studies on English clinical text, but less work has been carried out on clinical text in other languages. This study was performed on Swedish health records, and focused on four entities that are highly relevant for constructing a patient overview and for medical hypothesis generation, namely the entities: Disorder, Finding, Pharmaceutical Drug and Body Structure. The study had two aims: to explore how well named entity recognition methods previously applied to English clinical text perform on similar texts written in Swedish; and to evaluate whether it is meaningful to divide the more general category Medical Problem, which has been used in a number of previous studies, into the two more granular entities, Disorder and Finding. Clinical notes from a Swedish internal medicine emergency unit were annotated for the four selected entity categories, and the inter-annotator agreement between two pairs of annotators was measured, resulting in an average F-score of 0.79 for Disorder, 0.66 for Finding, 0.90 for Pharmaceutical Drug and 0.80 for Body Structure. A subset of the developed corpus was thereafter used for finding suitable features for training a conditional random fields model. Finally, a new model was trained on this subset, using the best features and settings, and its ability to generalise to held-out data was evaluated. This final model obtained an F-score of 0.81 for Disorder, 0.69 for Finding, 0.88 for Pharmaceutical Drug, 0.85 for Body Structure and 0.78 for the combined category Disorder+Finding. The obtained results, which are in line with or slightly lower than those for similar studies on English clinical text, many of them conducted using a larger training data set, show that

  11. Rules of evidence for clinical trials: the science of finding the truth?

    PubMed

    Cutter, Gary; Aban, Inmaculada

    2008-01-01

    Clinical research must address the vagaries of human variation in disease presentation, course, and response. The therapeutic relationship between the physician and patient, along with their role expectations and outcome expectations, also clouds the conduct and evaluation of clinical research. Today's milieu of hyper-vigilance in ethics has an impact on subject selection, subject continuance, and ultimately generalizability of results. With multiple stakeholders looking more and more to so-called evidence-based medicine, the quality of trials and their evaluations is growing in importance. This paper is organized along the lines of how we receive the news-a series of short sound bites on cautions important in clinical trials. Educated readers, consumers of trial information, and practitioners, as well as subjects participating in clinical trials, require thoughtful participation. This is often lacking in our sound-bite approach to science and results.

  12. Developing clinically suitable measures of social cognition for children: initial findings from a normative sample.

    PubMed

    Saltzman-Benaiah, Jennifer; Lalonde, Christopher E

    2007-03-01

    Our understanding of children's social competence has increased tremendously over the past two decades. There is increasing evidence to suggest that social-cognitive impairments are not restricted to children on the autistic spectrum, but rather may be associated with a host of developmental and acquired neurological conditions including learning disabilities, attention deficit disorder, traumatic brain injury, and stroke. Although many investigators have begun to bridge the gap between clinical practice and research by applying experimental tasks to clinical populations, few tools are available for the clinical evaluation of social competence, particularly in children. This study marks a series of first steps in the development of measures suitable for the assessment of children between 6 and 12 years of age. The results of the study provide data for a number of experimental tasks that have been adapted with clinical practice in mind. A discussion of the developmental progressions and the relationships among the measures is also included.

  13. Clinical diagnosis of symptomatic midfoot osteoarthritis: cross-sectional findings from the Clinical Assessment Study of the Foot

    PubMed Central

    Thomas, M.J.; Roddy, E.; Rathod, T.; Marshall, M.; Moore, A.; Menz, H.B.; Peat, G.

    2015-01-01

    Summary Objective To derive a multivariable diagnostic model for symptomatic midfoot osteoarthritis (OA). Methods Information on potential risk factors and clinical manifestations of symptomatic midfoot OA was collected using a health survey and standardised clinical examination of a population-based sample of 274 adults aged ≥50 years with midfoot pain. Following univariable analysis, random intercept multi-level logistic regression modelling that accounted for clustered data was used to identify the presence of midfoot OA independently scored on plain radiographs (dorso-plantar and lateral views), and defined as a score of ≥2 for osteophytes or joint space narrowing in at least one of four joints (first and second cuneometatarsal, navicular-first cuneiform and talonavicular joints). Model performance was summarised using the calibration slope and area under the curve (AUC). Internal validation and sensitivity analyses explored model over-fitting and certain assumptions. Results Compared to persons with midfoot pain only, symptomatic midfoot OA was associated with measures of static foot posture and range-of-motion at subtalar and ankle joints. Arch Index was the only retained clinical variable in a model containing age, gender and body mass index. The final model was poorly calibrated (calibration slope, 0.64, 95% CI: 0.39, 0.89) and discrimination was fair-to-poor (AUC, 0.64, 95% CI: 0.58, 0.70). Final model sensitivity and specificity were 29.9% (95% CI: 22.7, 38.0) and 87.5% (95% CI: 82.9, 91.3), respectively. Bootstrapping revealed the model to be over-optimistic and performance was not improved using continuous predictors. Conclusions Brief clinical assessments provided only marginal information for identifying the presence of radiographic midfoot OA among community-dwelling persons with midfoot pain. PMID:26093213

  14. Frequency and Clinical Significance of Previously Undetected Incidental Findings Detected on Computed Tomography Simulation Scans for Breast Cancer Patients

    SciTech Connect

    Nakamura, Naoki; Tsunoda, Hiroko; Takahashi, Osamu; Kikuchi, Mari; Honda, Satoshi; Shikama, Naoto; Akahane, Keiko; Sekiguchi, Kenji

    2012-11-01

    Purpose: To determine the frequency and clinical significance of previously undetected incidental findings found on computed tomography (CT) simulation images for breast cancer patients. Methods and Materials: All CT simulation images were first interpreted prospectively by radiation oncologists and then double-checked by diagnostic radiologists. The official reports of CT simulation images for 881 consecutive postoperative breast cancer patients from 2009 to 2010 were retrospectively reviewed. Potentially important incidental findings (PIIFs) were defined as any previously undetected benign or malignancy-related findings requiring further medical follow-up or investigation. For all patients in whom a PIIF was detected, we reviewed the clinical records to determine the clinical significance of the PIIF. If the findings from the additional studies prompted by a PIIF required a change in management, the PIIF was also recorded as a clinically important incidental finding (CIIF). Results: There were a total of 57 (6%) PIIFs. The 57 patients in whom a PIIF was detected were followed for a median of 17 months (range, 3-26). Six cases of CIIFs (0.7% of total) were detected. Of the six CIIFs, three (50%) cases had not been noted by the radiation oncologist until the diagnostic radiologist detected the finding. On multivariate analysis, previous CT examination was an independent predictor for PIIF (p = 0.04). Patients who had not previously received chest CT examinations within 1 year had a statistically significantly higher risk of PIIF than those who had received CT examinations within 6 months (odds ratio, 3.54; 95% confidence interval, 1.32-9.50; p = 0.01). Conclusions: The rate of incidental findings prompting a change in management was low. However, radiation oncologists appear to have some difficulty in detecting incidental findings that require a change in management. Considering cost, it may be reasonable that routine interpretations are given to those who have not

  15. Classical Mechanics

    NASA Astrophysics Data System (ADS)

    Chow, Tai L.

    1995-05-01

    Bring Classical Mechanics To Life With a Realistic Software Simulation! You can enhance the thorough coverage of Chow's Classical Mechanics with a hands-on, real-world experience! John Wiley & Sons, Inc. is proud to announce a new computer simulation for classical mechanics. Developed by the Consortium for Upper-Level Physics Software (CUPS), this simulation offers complex, often realistic calculations of models of various physical systems. Classical Mechanics Simulations (54881-2) is the perfect complement to Chow's text. Like all of the CUPS simulations, it is remarkably easy to use, yet sophisticated enough for explorations of new ideas. Other Important Features Include: * Six powerful simulations include: The Motion Generator, Rotation of Three-Dimensional Objects, Coupled Oscillators, Anharmonic Oscillators, Gravitational Orbits, and Collisions * Pascal source code for all programs is supplied and a number of exercises suggest specific ways the programs can be modified. * Simulations usually include graphical (often animated) displays. The entire CUPS simulation series consists of nine book/software simulations which comprise most of the undergraduate physics major's curriculum.

  16. Newcastle disease in captive falcons in the Middle East: a review of clinical and pathologic findings.

    PubMed

    Samour, Jaime

    2014-03-01

    Newcastle disease is an important viral disease of falcons in the Middle East. Two different clinical presentations producing distinct clinical symptoms and pathologic lesions have been identified in affected falcons, denoted as neurotropic velogenic and viscerotropic velogenic forms. Humoral response after vaccination with commercially available oil-emulsion inactivated poultry vaccines has been observed for up to 9 months in vaccinated falcons. Public awareness programs at falcon medical facilities in the region are needed to promote annual vaccinations to prevent Newcastle disease in falcons.

  17. Clinical, pathological and (18)F-FDG PET/CT findings in synchronous primary vaginal and endometrial cancers.

    PubMed

    Gunes, Burcak Yilmaz; Akbayır, Ozgur; Demirci, Emre; Ozaydin, Ipek

    2016-01-01

    Synchronous primary gynecologic malignancies are infrequently seen. In this report, we describe the clinical, pathological and fluorine-18-fluorodeoxyglucose positron emission tomography/computed tomography ((18)F-FDG PET/CT) findings of a patient with synchronous primary vaginal and endometrial cancers. To our knowledge, this is the first such case described in the literature. PMID:27331214

  18. Cutaneous manifestations in neuro-oncology: clinically relevant tumor and treatment associated dermatologic findings.

    PubMed

    Strowd, Roy E; Strowd, Lindsay C; Blakeley, Jaishri O

    2016-06-01

    Skin findings are a rare but important aspect of the evaluation and management of patients with tumors of the nervous system. Skin findings have the highest prevalence in genetic tumor syndromes termed neuro-genodermatoses, which include neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and tuberous sclerosis. Skin changes are observed in patients with non-syndromic nervous system malignancy, often as a result of pharmacotherapy. The skin may also manifest findings in paraneoplastic conditions that affect the nervous system, providing an early indication of underlying neoplasm, including dermatomyosistis, neuropathic itch, and brachioradial pruritus. In this article, we review the major cutaneous findings in patients with tumors of the brain, spine, and peripheral nervous system focusing on (1) cutaneous manifestations of genetic and sporadic primary nervous system tumor syndromes, and (2) paraneoplastic neurological syndromes with prominent cutaneous features. PMID:27178695

  19. Clinical value of concurrent radiochemotherapy in cervical cancer and comparison of ultrasonography findings before and after radiochemotherapy.

    PubMed

    Yan, W M; Li, X Z; Yu, Z L; Zhang, J; Sun, X G

    2015-04-17

    Herein, we investigated the clinical value of concurrent radiochemotherapy for patients with advanced cervical cancer and its effects on adverse clinical symptoms. Forty patients with cervical cancer were recruited from January 2011 to January 2014 for this study. Participants were randomly allocated into a test or control group, with 20 patients in each group. Patients in the test group were treated with concurrent radiochemotherapy, whereas patients in the control group received only traditional radiotherapy. At the end of the observation period, clinical efficacy in the two groups was compared. Patients were followed up for 2 years, and the rates of recurrence, survival, and complications were compared; ultrasonographic findings before and after radiotherapy were also correlated. Patients in the test group who received concurrent radiochemotherapy showed significantly higher clinical efficacy than the control group at the end of treatment cycles. After 2 years of follow-up, the rates of recurrence, mortality, and complications were all significantly lower in the test group than in the control group (P < 0.05). Comparison of ultrasonographic findings before and after radiochemotherapy showed that the size of the tumor was significantly smaller in patients after concurrent radiochemotherapy. Compared with traditional radiotherapy, concurrent radiochemotherapy significantly improved clinical outcomes in patients with advanced cervical cancer. Concurrent radiochemotherapy also enhanced the rate of survival and decreased the rate of relapse, with enhanced clinical safety and no significant side effects. Thus, concurrent radiochemotherapy can be more broadly applied in the treatment of advanced cervical cancer.

  20. Clinical findings in nondemented mutation carriers predisposed to Alzheimer's disease: a model of mild cognitive impairment.

    PubMed

    Almkvist, Ove; Axelman, Karin; Basun, Hans; Jensen, Malene; Viitanen, Matti; Wahlund, Lars-Olof; Lannfelt, Lars

    2003-01-01

    Individuals carrying a mutation associated with Alzheimer's disease (AD) may serve as a model of mild cognitive impairment (MCI). Nondemented individuals from these families can be subdivided into asymptomatic and symptomatic groups. Four families were studied. Two families are associated with APP mutations (KN670/671ML, E693G) and two with PS1 mutation (M146V, H163Y). Clinical symptoms, level of global cognitive functioning as evaluated by Mini-Mental State Examination, neuropsychological test results, neuroradiological examinations (magnetic resonance imaging (MRI) and single-photon emission tomography (SPECT)), as well as cerebrospinal fluid (CSF) measurements of tau and beta-amyloid are reported. Nondemented mutation carriers did not report any symptoms indicating cognitive decline. In addition, no clinical signs of dementia or marked cognitive impairment in neuropsychological tests were found. A reduction of temporal blood flow with SPECT was indicated in 5/13 nondemented mutation carriers. Two of these 13 individuals had moderate hyperintensities in deep white matter as observed on MRI. CSF measurements of A beta 42/43 were inconclusive because of large biological variation. A nonsignificant elevation of tau was detected in mutation carriers. In conclusion, clinical examinations of relatively young individuals carrying an AD mutation did not reveal any marked abnormalities before the clinical onset of dementia. PMID:12603253

  1. The Full Spectrum of Clinical Ethical Issues in Kidney Failure. Findings of a Systematic Qualitative Review

    PubMed Central

    Kahrass, Hannes; Strech, Daniel; Mertz, Marcel

    2016-01-01

    Background When treating patients with kidney failure, unavoidable ethical issues often arise. Current clinical practice guidelines some of them, but lack comprehensive information about the full range of relevant ethical issues in kidney failure. A systematic literature review of such ethical issues supports medical professionalism in nephrology, and offers a solid evidential base for efforts that aim to improve ethical conduct in health care. Aim To identify the full spectrum of clinical ethical issues that can arise for patients with kidney failure in a systematic and transparent manner. Method A systematic review in Medline (publications in English or German between 2000 and 2014) and Google Books (with no restrictions) was conducted. Ethical issues were identified by qualitative text analysis and normative analysis. Results The literature review retrieved 106 references that together mentioned 27 ethical issues in clinical care of kidney failure. This set of ethical issues was structured into a matrix consisting of seven major categories and further first and second-order categories. Conclusions The systematically-derived matrix helps raise awareness and understanding of the complexity of ethical issues in kidney failure. It can be used to identify ethical issues that should be addressed in specific training programs for clinicians, clinical practice guidelines, or other types of policies dealing with kidney failure. PMID:26938863

  2. Dorsal midbrain syndrome associated with persistent neck extension: Clinical and diagnostic imaging findings in 2 dogs

    PubMed Central

    Canal, Sara; Baroni, Massimo; Falzone, Cristian; De Benedictis, Giulia M.; Bernardini, Marco

    2015-01-01

    Two young dogs were evaluated for an acute onset of abnormal head posture and eye movement. Neurological examination was characterized mostly by permanent neck extension, abnormalities of pupils, and eye movement. A mesencephalic mass lesion was detected on magnetic resonance imaging in both cases. Neurophysiological pathways likely responsible for this peculiar clinical presentation are discussed. PMID:26663922

  3. Dorsal midbrain syndrome associated with persistent neck extension: Clinical and diagnostic imaging findings in 2 dogs.

    PubMed

    Canal, Sara; Baroni, Massimo; Falzone, Cristian; De Benedictis, Giulia M; Bernardini, Marco

    2015-12-01

    Two young dogs were evaluated for an acute onset of abnormal head posture and eye movement. Neurological examination was characterized mostly by permanent neck extension, abnormalities of pupils, and eye movement. A mesencephalic mass lesion was detected on magnetic resonance imaging in both cases. Neurophysiological pathways likely responsible for this peculiar clinical presentation are discussed.

  4. Clinical Evidence in Guardianship of Older Adults Is Inadequate: Findings from a Tri-State Study

    ERIC Educational Resources Information Center

    Moye, Jennifer; Wood, Stacey; Edelstein, Barry; Armesto, Jorge C.; Bower, Emily H.; Harrison, Julie A.; Wood, Erica

    2007-01-01

    Purpose: This preliminary study compared clinical evaluations for guardianship in three states with varying levels of statutory reform. Design and Methods: Case files for 298 cases of adult guardianship were reviewed in Massachusetts, Pennsylvania, and Colorado, three states with varying degrees of statutory reform. The quality and content of the…

  5. Diffusion-weighted MRI findings and clinical correlations in sporadic Creutzfeldt-Jakob disease.

    PubMed

    Gao, Ting; Lyu, Jin-Hao; Zhang, Jia-Tang; Lou, Xin; Zhao, Wei; Xing, Xiao-Wei; Yang, Ming; Yao, Yan; Tan, Qing-Che; Tian, Cheng-Lin; Huang, Xu-Sheng; Ma, Lin; Yu, Sheng-Yuan

    2015-06-01

    The objective of this study is to investigate the hyperintense lesions on diffusion-weighted magnetic resonance imaging (DWI) and its clinical correlation in sporadic Creutzfeldt-Jakob disease (sCJD). Patients who suffered from sCJD and followed up at the Department of Neurology at the General Hospital of the People's Liberation Army during the period of June 1, 2007 to July 1, 2014 were reviewed. The location of the hyperintense lesions on DWI, apparent diffusion coefficient (ADC) values of the hyperintense lesions were correlated with symptoms and clinical course. A total of 58 sCJD patients and ten healthy controls were included. Hyperintense lesions on DWI were observed in all the patients. The patients with basal ganglia (BG) hyperintense lesions on DWI had shorter disease duration and higher incidence of myoclonus (92 versus 44 %) than those without BG hyperintense lesions. The patients with occipital cortex hyperintense lesions on DWI had shorter disease duration between symptom onset and akinetic mutism than those without these lesions. The lower of the BG ADC value the faster presence of akinetic mutism and the shorter disease duration the patients will have. The presence of BG and occipital cortex hyperintense lesions on DWI and BG ADC values is correlated with the clinical course and clinical symptoms. PMID:25860342

  6. Histologic, Clinical, and Radiologic Findings of Alveolar Bone Expansion and Osteomyelitis of the Jaws in Cats.

    PubMed

    Bell, C M; Soukup, J W

    2015-09-01

    The objective of this study was to characterize clinical, radiologic, and histologic patterns of alveolar bone expansion and osteomyelitis in cats. Based on case materials submitted as surgical biopsy specimens, alveolar bone pathology was diagnosed in 28 cats. These cats had a total of 37 oral lesions with clinical and radiologic changes that involved bone and/or teeth, including periodontitis, bone expansion, tooth resorption, and/or chronic osteomyelitis; 32 lesions were evaluated by histopathology. Canine teeth were affected in 19 cats (27 affected teeth), with bilateral lesions in 5 (26.3%) cats. The caudal premolar and/or molar regions were affected in 10 cats (10 affected sites). All biopsy sites evaluated by a review of clinical images and/or radiographs had evidence of periodontitis. Clinical photographs showed expansion of alveolar bone in 13 of 16 (81%) biopsy sites evaluated. Radiologically, rarifying osseous proliferation of alveolar bone was seen at 26 of 27 (96%) biopsy sites, and tooth resorption occurred at 15 of 18 (83%) sites. Histologically, the tissue samples from canine sites had compressed trabeculae of mature remodeled bone, loose fibrous stroma with paucicellular inflammation, and mild proliferation of woven bone. Tissue samples from the premolar/molar biopsy sites were often highly cellular with mixed lymphoplasmacytic and chronic suppurative inflammation, ulceration with granulation tissue, and robust proliferation of woven bone. Alveolar bone expansion and osteomyelitis in cats occurs in conjunction with periodontal inflammation and frequently with tooth resorption.

  7. Dissecting the Wilderness Therapy Client: Examining Clinical Trends, Findings, and Patterns

    ERIC Educational Resources Information Center

    Hoag, Matthew J.; Massey, Katie E.; Roberts, Sean D.

    2014-01-01

    Over the last decade, wilderness therapy research has increased substantially in both quality and quantity and has begun to establish a base of evidence and literature. However, there is still much to be learned about the clients served and their clinical profile. The authors examined diagnostic data from discharge summaries of 929 clients (192…

  8. There’s an App for That? Highlighting the Difficulty in Finding Clinically Relevant Smartphone Applications

    PubMed Central

    Wiechmann, Warren; Kwan, Daniel; Bokarius, Andrew; Toohey, Shannon L.

    2016-01-01

    Introduction The use of personal mobile devices in the medical field has grown quickly, and a large proportion of physicians use their mobile devices as an immediate resource for clinical decision-making, prescription information and other medical information. The iTunes App Store (Apple, Inc.) contains approximately 20,000 apps in its “Medical” category, providing a robust repository of resources for clinicians; however, this represents only 2% of the entire App Store. The App Store does not have strict criteria for identifying content specific to practicing physicians, making the identification of clinically relevant content difficult. The objective of this study is to quantify the characteristics of existing medical applications in the iTunes App Store that could be used by emergency physicians, residents, or medical students. Methods We found applications related to emergency medicine (EM) by searching the iTunes App Store for 21 terms representing core content areas of EM, such as “emergency medicine,” “critical care,” “orthopedics,” and “procedures.” Two physicians independently reviewed descriptions of these applications in the App Store and categorized each as the following: Clinically Relevant, Book/Published Source, Non-English, Study Tools, or Not Relevant. A third physician reviewer resolved disagreements about categorization. Descriptive statistics were calculated. Results We found a total of 7,699 apps from the 21 search terms, of which 17.8% were clinical, 9.6% were based on a book or published source, 1.6% were non-English, 0.7% were clinically relevant patient education resources, and 4.8% were study tools. Most significantly, 64.9% were considered not relevant to medical professionals. Clinically relevant apps make up approximately 6.9% of the App Store’s “Medical” Category and 0.1% of the overall App Store. Conclusion Clinically relevant apps represent only a small percentage (6.9%) of the total App volume within the

  9. Clinical and microbiological findings on newly inserted hydroxyapatite-coated and pure titanium human dental implants.

    PubMed

    Rams, T E; Roberts, T W; Feik, D; Molzan, A K; Slots, J

    1991-01-01

    The clinical and microbiologic features of 30 hydroxyapatite-coated root-form endosseous dental implants (Tri-Stage) were compared to 10 similar pure titanium implants without hydroxyapatite coatings. In 7 of 9 partially edentulous patients studied, pure titanium fixtures were placed adjacent to hydroxyapatite-coated implants. Implants in the maxilla were submerged beneath mucosal tissues after implant placement for a minimum of 6 months, and in the mandible for at least 4 months. All patients were prescribed short-term beta-lactam antibiotic therapy after fixture placement, and 8 of 9 used chlorhexidine mouthrinses after fixture exposure. Clinical and microbiological examination was carried out 7-10 months after fixed prosthetic loading of the implants. Clinical measurements included the gingival index, plaque index, bleeding on probing and peri-implant probing depths determined with the Florida Probe system. Subgingival microbial samples were collected with paper points and transported in VMGA III. Specimens were examined by direct phase-contrast microscopy and were plated onto nonselective and selective culture media for anaerobic and aerobic incubation. No significant mean clinical or microbiological differences were found between the implant types, although one hydroxyapatite-coated implant exhibited deep probing depths, bleeding on probing and marked radiographic crestal bone loss. Streptococcus sanguis and Streptococcus mitis were the most predominant organisms recovered from clinically stable implants, whereas high proportions of Fusobacterium species and Peptostreptococcus prevotii were isolated from the ailing hydroxyapatite-coated implant. One or more implants in 8 of the study subjects yielded enteric rods, pseudomonads, enterococci or staphylococci. The prognosis of implants with varying early microbiotas needs to be established in longitudinal studies. PMID:1843465

  10. Vital Pulp Therapies in Clinical Practice: Findings from a Survey with Dentist in Southern Brazil.

    PubMed

    Chisini, Luiz Alexandre; Conde, Marcus Cristian Muniz; Correa, Marcos Britto; Dantas, Raquel Venâncio Fernandes; Silva, Adriana Fernandes; Pappen, Fernanda Geraldes; Demarco, Flávio Fernando

    2015-01-01

    Studies based on dentists' clinical practice possess vital relevance to understand factors leading the clinicians to choose by a specific technique over another. This study investigated which clinical conduct therapies are adopted by dentists in front of deep caries. Was evaluated how the place of work, post-graduate training and years since complete graduation influenced their decisions. A cross-sectional study was performed using a self-applied questionnaire with dentists (n=276) in Southern Brazil. Information regarding post-graduation training (specialization, master's or PhD), clinical experience (years since completing graduation) and place of work were investigated. The information regarding pulp vital therapies (materials for direct pulp capping; techniques for caries removal in deep cavities and strategies for indirect pulp capping) were collected by specific questions. Data were submitted to descriptive analysis and Exact Fischer Test. Response rate was 68% (187). The majority of dentists selected the calcium hydroxide (CH) as first material for direct (86.3%) and indirect (80.3%) pulp protection. Partial caries removal was reported by 61.9% of dentists. Less experienced clinical dentists choose partial caries removal more frequently (p=0.009), if compared with dentists graduated 10 years and up ago. The use of MTA was more common among professionals working at academic environment. Besides, MTA was not mentioned by professionals working exclusively in the public health service (p=0.003). In conclusion, the time since graduation influenced the clinical conduct related to caries removal. The choice of liner materials was influenced by dentists' workplace. PMID:26963197

  11. The Facts About Sexual (Dys)function in Schizophrenia: An Overview of Clinically Relevant Findings

    PubMed Central

    de Boer, Marrit K.; Castelein, Stynke; Wiersma, Durk; Schoevers, Robert A.; Knegtering, Henderikus

    2015-01-01

    A limited number of studies have evaluated sexual functioning in patients with schizophrenia. Most patients show an interest in sex that differs little from the general population. By contrast, psychiatric symptoms, institutionalization, and psychotropic medication contribute to frequently occurring impairments in sexual functioning. Women with schizophrenia have a better social outcome, longer lasting (sexual) relationships, and more offspring than men with schizophrenia. Still, in both sexes social and interpersonal impairments limit the development of stable sexual relationships. Although patients consider sexual problems to be highly relevant, patients and clinicians not easily discuss these spontaneously, leading to an underestimation of their prevalence and contributing to decreased adherence to treatment. Studies using structured interviews or questionnaires result in many more patients reporting sexual dysfunctions. Although sexual functioning can be impaired by different factors, the use of antipsychotic medication seems to be an important factor. A comparison of different antipsychotics showed high frequencies of sexual dysfunction for risperidone and classical antipsychotics, and lower frequencies for clozapine, olanzapine, quetiapine, and aripiprazole. Postsynaptic dopamine antagonism, prolactin elevation, and α1-receptor blockade may be the most relevant factors in the pathogenesis of antipsychotic-induced sexual dysfunction. Psychosocial strategies to treat antipsychotic-induced sexual dysfunction include psychoeducation and relationship counseling. Pharmacological strategies include lowering the dose or switching to a prolactin sparing antipsychotic. Also, the addition of a dopamine agonist, aripiprazole, or a phosphodiesterase-5 inhibitor has shown some promising results, but evidence is currently scarce. PMID:25721311

  12. Towards a European consensus for reporting incidental findings during clinical NGS testing.

    PubMed

    Hehir-Kwa, Jayne Y; Claustres, Mireille; Hastings, Ros J; van Ravenswaaij-Arts, Conny; Christenhusz, Gabrielle; Genuardi, Maurizio; Melegh, Béla; Cambon-Thomsen, Anne; Patsalis, Philippos; Vermeesch, Joris; Cornel, Martina C; Searle, Beverly; Palotie, Aarno; Capoluongo, Ettore; Peterlin, Borut; Estivill, Xavier; Robinson, Peter N

    2015-12-01

    In 2013, the American College of Medical Genetics (ACMG) examined the issue of incidental findings in whole exome and whole genome sequencing, and introduced recommendations to search for, evaluate and report medically actionable variants in a set of 56 genes. At a debate held during the 2014 European Society for Human Genetics Conference (ESHG) in Milan, Italy, the first author of that paper presented this view in a debate session that did not end with a conclusive vote from the mainly European audience for or against reporting back actionable incidental findings. In this meeting report, we elaborate on the discussions held during a special meeting hosted at the ESHG in 2013 from posing the question 'How to reach a (European) consensus on reporting incidental findings and unclassified variants in diagnostic next generation sequencing'. We ask whether an European consensus exists on the reporting of incidental findings in genome diagnostics, and present a series of key issues that require discussion at both a national and European level in order to develop recommendations for handling incidental findings and unclassified variants in line with the legal and cultural particularities of individual European member states.

  13. The IMSI Procedure Improves Laboratory and Clinical Outcomes Without Compromising the Aneuploidy Rate When Compared to the Classical ICSI Procedure

    PubMed Central

    Luna, Daniel; Hilario, Roly; Dueñas-Chacón, Julio; Romero, Rocío; Zavala, Patricia; Villegas, Lucy; García-Ferreyra, Javier

    2015-01-01

    PURPOSE The intracytoplasmic morphologically selected sperm injection (IMSI) procedure has been associated with better laboratory and clinical outcomes in assisted reproduction technologies. Less information is available regarding the relationship between embryo aneuploidy rate and the IMSI procedure. The aim of this study is to compare the clinical outcomes and chromosomal status of IMSI-derived embryos with those obtained from intracytoplasmic sperm injection (ICSI) in order to establish a clearer view of the benefits of IMSI in infertile patients. METHODS We retrospectively analyzed a total of 11 cycles of IMSI and 20 cycles of ICSI with preimplantation genetic diagnosis. The fertilization rate, cleavage rate, embryo quality, blastocyst development, aneuploidy rate, pregnancy rate, implantation rate, and miscarriage rate were compared between the groups. RESULTS Similar rates of fertilization (70% and 73%), cleavage (98% and 100%), and aneuploidy (76.9% and 70.9%) were observed in the IMSI and ICSI groups, respectively. The IMSI group had significantly more good quality embryos at day 3 (95% vs 73%), higher blastocyst development rates (33% vs 19%), and greater number of hatching blastocysts (43% vs 28%), cycles with at least one blastocyst at day 5 (55% vs 35%), and blastocysts with good trophoectoderm morphology (21% vs 6%) compared with the ICSI group (P < 0.001). Significantly higher implantation rates were observed in the IMSI group compared with the ICSI group (57% vs 27%; P < 0.05). Pregnancy and miscarriage rates were similar in both groups (80% vs 50% and 0% vs 33%, respectively). CONCLUSION The IMSI procedure significantly improves the embryo quality/development by increasing the implantation rates without affecting the chromosomal status of embryos. There is a tendency for the IMSI procedure to enhance the pregnancy rates and lower the miscarriage rates when compared with ICSI. PMID:26609251

  14. Isolated Bilateral Mandibular Angle Fractures: An Extensive Literature Review of the Rare Clinical Phenomenon with Presentation of a Classical Clinical Model

    PubMed Central

    Elavenil, P.; Mohanavalli, S.; Sasikala, B.; Prasanna, R. Ashok; Krishnakumar, Raja V. B.

    2014-01-01

    Bilateral angle fractures are a rare clinical phenomenon in contrast to the incidence of unilateral angle fractures. However, the rarity has garnered less attention in spite of the uniqueness of fracture pattern and distinctive biomechanics. This article is a detailed review on the etiology, clinical presentation, and management of bilateral angle fractures with the presentation of an interesting case. The bilateral angle fracture reported is a untreated, malunited fracture representing an ideal clinical model to study its biomechanics. The clinical features were anterior open bite, increased facial height, and temporomandibular joint tenderness. The management included osteotomy at the malunion and miniplate osteosynthesis. Bilateral angle fracture presents mandible in three independent fragments (left angle, right angle, and intermediate corpus), each with strong muscles acting in different vectors. This makes the fracture vulnerable to severe displacing forces and unfavorable to achieve the optimal reduction, stability, and healing. This necessitates comprehension of the biomechanical forces involved to avoid malunion following fixation. The article details the complex biomechanics of mandibular angle and its clinical implications in the rare event of bilateral angle fractures. It describes the necessity for a systematic approach and ideal osteosynthesis principles to achieve maximal treatment outcomes and minimal complications. PMID:26000089

  15. Selection of the treatment effect for sample size determination in a superiority clinical trial using a hybrid classical and Bayesian procedure.

    PubMed

    Ciarleglio, Maria M; Arendt, Christopher D; Makuch, Robert W; Peduzzi, Peter N

    2015-03-01

    Specification of the treatment effect that a clinical trial is designed to detect (θA) plays a critical role in sample size and power calculations. However, no formal method exists for using prior information to guide the choice of θA. This paper presents a hybrid classical and Bayesian procedure for choosing an estimate of the treatment effect to be detected in a clinical trial that formally integrates prior information into this aspect of trial design. The value of θA is found that equates the pre-specified frequentist power and the conditional expected power of the trial. The conditional expected power averages the traditional frequentist power curve using the conditional prior distribution of the true unknown treatment effect θ as the averaging weight. The Bayesian prior distribution summarizes current knowledge of both the magnitude of the treatment effect and the strength of the prior information through the assumed spread of the distribution. By using a hybrid classical and Bayesian approach, we are able to formally integrate prior information on the uncertainty and variability of the treatment effect into the design of the study, mitigating the risk that the power calculation will be overly optimistic while maintaining a frequentist framework for the final analysis. The value of θA found using this method may be written as a function of the prior mean μ0 and standard deviation τ0, with a unique relationship for a given ratio of μ0/τ0. Results are presented for Normal, Uniform, and Gamma priors for θ. PMID:25583273

  16. African Americans with memory loss: findings from a community clinic in Lexington, Kentucky.

    PubMed

    Danner, Deborah D; Smith, Charles D; Jessa, Peace; Hudson, JoAnna

    2008-09-01

    Kentucky's African-American Dementia Outreach Partnership (AADOP) has shown that African-American patients seek dementia care if a clinic is conveniently located and families are educated about the distinction between normal aging and signs of disease. The early identification of dementia allows African Americans access to pharmaceutic treatments that work best early in the course of the disease and provides the opportunity for the patient to plan future care. In the AADOP model, a conveniently located clinic and access to the patient's home were first steps in achieving equality of care. The trust that was built in the community through collaboration with African-American churches has allowed patients and their families to receive help with memory problems and to feel comfortable in seeking help for other medical problems. Maintaining this involvement and responsiveness to the community over the long term is the next challenge for the program.

  17. Pain and placebo in pediatrics: A comprehensive review of laboratory and clinical findings

    PubMed Central

    Kossowsky, Joe; Krummenacher, Peter; Grillon, Christian; Pine, Daniel; Colloca, Luana

    2014-01-01

    Pain modulation by placebo mechanisms is one of the most robust and best-studied phenomena, yet almost all research investigating the mechanisms and implications of the placebo analgesia are based on adult research. After highlighting crucial aspects that need to be considered in studying pain modulation in children, this comprehensive review examines studies related to pain modulation with an emphasis on factors such as age, neural development and pain measures. Psychological mechanisms underlying placebo effects including: 1) verbally-induced expectations; 2) conditioning and learning mechanisms; 3) child-parent-physician interactions are critically discussed. Taken together, research suggests that placebo mechanisms can impact therapeutic outcomes and potentially be exploited clinically to improve clinical outcomes in pediatric population. Recommendations for further investigating the mechanistic bases and harnessing placebo effects for supportive therapeutic applications are given. PMID:25180010

  18. Basic concepts and clinical findings in the treatment of seizure disorders with EEG operant conditioning.

    PubMed

    Sterman, M B

    2000-01-01

    Two issues concerning sensorimotor EEG operant conditioning, or biofeedback, as a therapeutic modality for the treatment of seizure disorders are the focus of this review. The first relates to the question of whether relevant physiological changes are associated with this procedure. This question is addressed through review of an extensive neurophysiological literature that is likely unfamiliar to many clinicians but that documents both immediate and sustained functional changes that are consistent with elevation of seizure thresholds. The second focuses on the clinical efficacy of this method and whether it should carry the designation of "experimental". This designation is challenged through an assessment of over 25 years of peer-reviewed research demonstrating impressive EEG and clinical results achieved with the most difficult subset of seizure patients.

  19. [Ehrlichia infection in a child: clinical findings and review of the literature].

    PubMed

    Halac, Eduardo

    2016-06-01

    A 12 year old child was brought in by his parents due to persistent fever of 3 weeks duration, sore throat, malaise, chills, small joint arthralgia, myalgias, and a pink macular rash. The first clinical impression of the physicians was infectious mononucleosis but serologic testing ruled out the diagnosis. He was then treated with oral ampicillin without a favorable response. He was referred to us for a second evaluation. A detailed clinical history revealed that he had a few days of vacation in a rural area in the northern region of the province of Cordoba, in close contact with horses, dogs and cats. His parents found 2 ticks on his abdomen, and removed them with tweezers. Serology and blood count carried out in a specialized laboratory showed positive titers (> 160) for Ehrlichia chaffeensis. Further confirmation was obtained using genus-specific polymerase chain reaction. After a 3-week course of doxycicline the patient recovered and serological titers decreased.

  20. [Ehrlichia infection in a child: clinical findings and review of the literature].

    PubMed

    Halac, Eduardo

    2016-06-01

    A 12 year old child was brought in by his parents due to persistent fever of 3 weeks duration, sore throat, malaise, chills, small joint arthralgia, myalgias, and a pink macular rash. The first clinical impression of the physicians was infectious mononucleosis but serologic testing ruled out the diagnosis. He was then treated with oral ampicillin without a favorable response. He was referred to us for a second evaluation. A detailed clinical history revealed that he had a few days of vacation in a rural area in the northern region of the province of Cordoba, in close contact with horses, dogs and cats. His parents found 2 ticks on his abdomen, and removed them with tweezers. Serology and blood count carried out in a specialized laboratory showed positive titers (> 160) for Ehrlichia chaffeensis. Further confirmation was obtained using genus-specific polymerase chain reaction. After a 3-week course of doxycicline the patient recovered and serological titers decreased. PMID:27164358

  1. Clinical values dataset processing through cluster analysis to find cardiovascular risk

    NASA Astrophysics Data System (ADS)

    Bucci, C. M.; Legnani, W. E.; Armentano, R. L.

    2016-04-01

    The scope of this work is to show another way to grouping population with clinical variables measured in health centres and to assign a cardiovascular risk indicator. To do this, two different datasets were used, one coming from France and another coming from Uruguay. The well proved Framingham index was used to validate the results. The preliminary results are very auspicious to encourage the research and get deeper knowledge of the cardiovascular risk indicators.

  2. Improvement of clinical and MRI findings in a boy with adrenoleukodystrophy by dietary erucic acid therapy.

    PubMed

    Maeda, K; Suzuki, Y; Yajima, S; Asano, J; Yamaguchi, S; Matsumoto, N; Borel, J; Moser, H W; Orii, T

    1992-11-01

    A 5-year-old boy with adrenoleukodystrophy, with clinical symptoms of visual, mental and motor disturbances which progressed rapidly, was treated with Lorenzo's oil consisting 1 volume of glyceryl trierucate and 4 volumes of glyceryl trioleate. Five months after initiation of this therapy, ability to swallow was enhanced and T2-weighted magnetic resonance imaging of the brain revealed regression of high intensity area of the parieto-occipital white matter.

  3. Clinical findings and long-term managements of patients with amelogenesis imperfecta

    PubMed Central

    Koruyucu, Mine; Bayram, Merve; Tuna, Elif Bahar; Gencay, Koray; Seymen, Figen

    2014-01-01

    The aim of this clinical case series is to present a diagnosis and different treatment methods of patients in different ages with amelogenesis imperfecta (AI) as well as further treatments during a 3-6 years follow-up period. A number of 31 patients (16 female, 15 male with a mean age of 10.77 ± 2.65 years) with AI have been examined for the study group between 2007 and 2010 years. A detailed anamnesis was recorded, followed by a clinical and radiological assessment of oral health. The types of AI classified for each patient according to clinical and radiographic evaluation. The main complaints of patients, presence of dental caries and dental anomalies were noted. Necessary treatments had been planned for the individual cases of AI. A number of 19 patients had hypoplastic (HP) form, and 10 patients showed hypomaturation (HM) form of AI, while one patient showed hypocalcified form of AI and one patient had HM-HP form with taurodontism. Main complaints were chiefly related to dissatisfactory esthetics and dental sensitivity. Caries prevalence index was 93.5%. Mean decayed, missing, filling permanent teeth (DMF) and DMF surface (DMFS) were found as 2.74 ± 1.71 and 6.23 ± 3.99; df (decayed, filling primary teeth) and dfs (decayed, filling primary teeth surface) were found as 3.12 ± 2.85 and 5.24 ± 4.97, respectively. All patients received individual clinical care, including preventive, restorative, and prosthetic treatments. Patients have scheduled for regular follow-up in every 3 months. Composite restorations were used as the most common treatment (25 patients, 80.6%). The treatment plan should be based on patient's age, type of defects and individual needs of the patients. Necessary treatment plan is essential, not only due to functional and aesthetic reasons, but also for the positive psychological impact on young patients. PMID:25512739

  4. Comparison of the clinical diagnosis and subsequent autopsy findings in medical malpractice.

    PubMed

    Pakis, Isil; Polat, Oguz; Yayci, Nesime; Karapirli, Mustafa

    2010-09-01

    The rate of diagnostic error has not declined over the last 30 years despite the improvement in diagnosis methods. Today, the probability to encounter a major diagnostic change in autopsy is still high. The special autopsy that provides clinicians the necessary feedback is performed seldom in our country. This study has been started upon the claim that the malpractice cases in scope of forensic cases could be a very useful database. About 525 cases with faulty medical application that resulted in death have been encountered according to the cases that have been sent to the Forensic Medical Institution, which has been the consultative authority of the Ministry of Justice between the years 2001 and 2005. Among these, 375 cases on which autopsies have been conducted are included in the scope of the study. The cases with and without major diagnostic changes have been compared in aspects of gender, age groups, and period spent in health units. When the concordance between autopsy and clinical diagnosis for the 375 cases that were included in the study is examined, it can be seen that clinical diagnosis is verified with autopsy in 49.1% of the cases whereas neither autopsy nor clinical diagnosis was encountered in 14.7% of them. The diseases where diagnostic faults are mostly encountered are ruptured aortic aneurysm, myocardial infarction and pneumonia. The majority of the cases without a clinical diagnosis comprises of complications that occur after operations. In the study, considerable major diagnostic changes were realized after autopsy, which shows that autopsy has an important place in Turkey in spite of the improved methods of diagnosis. Also, in the cases with major diagnostic changes, the medical malpractice rate was high. This shows that autopsy is influential in revealing medical malpractice failures. In the study, we found out that the number of autopsies was high in the cases with a malpractice claim. We aim to increase this number. We are sure that such

  5. Clinical and Pathological Findings Associated with Aerosol Exposure of Macaques to Ricin Toxin

    PubMed Central

    Pincus, Seth H.; Bhaskaran, Manoj; Brey, Robert N.; Didier, Peter J.; Doyle-Meyers, Lara A.; Roy, Chad J.

    2015-01-01

    Ricin is a potential bioweapon that could be used against civilian and military personnel. Aerosol exposure is the most likely route of contact to ricin toxin that will result in the most severe toxicity. Early recognition of ricin exposure is essential if specific antidotes are to be applied. Initial diagnosis will most likely be syndromic, i.e., fitting clinical and laboratory signs into a pattern which then will guide the choice of more specific diagnostic assays and therapeutic interventions. We have studied the pathology of ricin toxin in rhesus macaques exposed to lethal and sublethal ricin aerosols. Animals exposed to lethal ricin aerosols were followed clinically using telemetry, by clinical laboratory analyses and by post-mortem examination. Animals exposed to lethal aerosolized ricin developed fever associated with thermal instability, tachycardia, and dyspnea. In the peripheral blood a marked neutrophilia (without immature bands) developed at 24 h. This was accompanied by an increase in monocytes, but depletion of lymphocytes. Red cell indices indicated hemoconcentration, as did serum chemistries, with modest increases in sodium and blood urea nitrogen (BUN). Serum albumin was strikingly decreased. These observations are consistent with the pathological observations of fluid shifts to the lungs, in the form of hemorrhages, inflammatory exudates, and tissue edema. In macaques exposed to sublethal aerosols of ricin, late pathologic consequences included chronic pulmonary fibrosis, likely mediated by M2 macrophages. Early administration of supportive therapy, specific antidotes after exposure or vaccines prior to exposure have the potential to favorably alter this outcome. PMID:26067369

  6. Pathophysiology of Corneal Dystrophies: From Cellular Genetic Alteration to Clinical Findings.

    PubMed

    Sacchetti, Marta; Macchi, Ilaria; Tiezzi, Alessandro; La Cava, Maurizio; Massaro-Giordano, Giacomina; Lambiase, Alessandro

    2016-02-01

    Corneal dystrophies are a heterogeneous group of bilateral, inherited, rare diseases characterized by slowly progressive corneal opacities, that lead to visual impairment. Most of them have an autosomal dominant pattern of inheritance with variable expressivity, but new mutations have been described. Many corneal dystrophies have been genetically characterized and the specific gene mutations identified, such as for the epithelial-stromal TGFBI dystrophies. Current classification systems identified four main groups of corneal dystrophies based on clinical, histologic, and genetic information. Diagnosis is performed during a routine ophthalmic examination that shows typical cellular abnormalities of the corneal epithelium, stroma, or endothelium. Disease progression should be carefully monitored to decide the proper clinical management. The treatment of corneal dystrophies is variable, depending on symptoms, clinical course, severity, and type of dystrophy. Management aimed to reduce symptoms and to improve vision, includes different surgical approaches. Novel cellular and genetic therapeutic approaches are under evaluation. J. Cell. Physiol. 231: 261-269, 2016. © 2015 Wiley Periodicals, Inc. PMID:26104822

  7. Cemento-ossifying fibroma of jaws-correlation of clinical and pathological findings.

    PubMed

    Sopta, Jelena; Dražić, Radojica; Tulić, Goran; Mijucić, Vesna; Tepavčević, Zvezdana

    2011-04-01

    Cemento-ossifying fibroma (COF) belongs to the group of bone-related lesions of the oral cavity. The aim of this study was refine its histologic features and to correlate histopathological picture and clinical behavior of the tumor. The quantity of bone spherules, their cellularity, the existence of hemorrhage, inflammation, and endochondral ossification in the stroma of the tumor were analyzed and correlated with patients main symptoms of ten patients with COF. All patients had swelling that lasted between 3 and 20 months (mean 10.4 months). Other clinical symptoms were facial asymmetry, eye bulb protrusion, and teeth displacement. The evolution of the tumor was longer in the mandible (12.3 months) than in maxilla (9.5 months). The main histomorphological diagnostic criterion for COF was psammoma-like structures. In lesions with longer case history, the number of "psammomatoid" bodies was greater. In lesions with shorter course of the disease, their number was lower and stromal hemorrhage and inflammation were presented. One patient had secondary superposition of aneurysmal bone cyst in the prime COF of mandible. Histological appearance of COF may be influenced by the tumor evolution. A siginificant correlation between the clinical course of the disease and histological parameters has been certified.

  8. Applying Cultural Competency in Clinical Practice: Findings from Multicultural Experts' Experience

    ERIC Educational Resources Information Center

    Kwong, Miu Ha

    2009-01-01

    This study employed a qualitative (grounded theory) method to achieve a better understanding, conceptualization, and operationalization of how cultural competency translated into practice could be observed and evaluated in social work students and practitioners. The research findings presented in this study were organized into three overarching…

  9. Finding Your First Job in Professional Psychology: The Process of Getting a Clinical Practice Position.

    ERIC Educational Resources Information Center

    Tentoni, Stuart C.

    Psychologists starting their careers now have a bleaker view of the job market than those who started a decade or more ago. Ways in which new doctoral graduates in psychology can find their first jobs in professional psychology are explored in this paper. The focus is upon what reviewers and interviewers may look for in the curriculum vitae of…

  10. Inhibitory Functioning across ADHD Subtypes: Recent Findings, Clinical Implications, and Future Directions

    ERIC Educational Resources Information Center

    Adams, Zachary W.; Derefinko, Karen J.; Milich, Richard; Fillmore, Mark T.

    2008-01-01

    Although growing consensus supports the role of deficient behavioral inhibition as a central feature of the combined subtype of ADHD (ADHD/C; Barkley 1997 "Psychol Bull" 121:65-94; Nigg 2001 "Psychol Bull" 127:571-598), little research has focused on how this finding generalizes to the primarily inattentive subtype (ADHD/I). This question holds…

  11. Characteristics of Child Victims of Physical Violence: Research Findings and Clinical Implications.

    ERIC Educational Resources Information Center

    Kolko, David J.

    1992-01-01

    Reviews recent empirical studies that examine the short- and long-term sequelae of physical child maltreatment (PCM). Assesses the current status of research examining PCM's impact on children's development and psychosocial functioning. Major findings are discussed in the context of pertinent qualifications of existing evidence. (over 140…

  12. The Empirical Status of Empirically Supported Psychotherapies: Assumptions, Findings, and Reporting in Controlled Clinical Trials

    ERIC Educational Resources Information Center

    Westen, Drew; Novotny, Catherine M.; Thompson-Brenner, Heather

    2004-01-01

    This article provides a critical review of the assumptions and findings of studies used to establish psychotherapies as empirically supported. The attempt to identify empirically supported therapies (ESTs) imposes particular assumptions on the use of randomized controlled trial (RCT) methodology that appear to be valid for some disorders and…

  13. ASSOCIATIONS BETWEEN ULTRASOUND AND CLINICAL FINDINGS IN 87 CATS WITH URETHRAL OBSTRUCTION.

    PubMed

    Nevins, Jonathan R; Mai, Wilfried; Thomas, Emily

    2015-01-01

    Urethral obstruction is a life-threatening form of feline lower urinary tract disease. Ultrasonographic risk factors for reobstruction have not been previously reported. Purposes of this retrospective cross-sectional study were to describe urinary tract ultrasound findings in cats following acute urethral obstruction and determine whether ultrasound findings were associated with reobstruction. Inclusion criteria were a physical examination and history consistent with urethral obstruction, an abdominal ultrasound including a full evaluation of the urinary system within 24 h of hospitalization, and no cystocentesis prior to ultrasound examination. Medical records for included cats were reviewed and presence of azotemia, hyperkalemia, positive urine culture, and duration of hospitalization were recorded. For medically treated cats with available outcome data, presence of reobstruction was also recorded. Ultrasound images were reviewed and urinary tract characteristics were recorded. A total of 87 cats met inclusion criteria. Common ultrasound findings for the bladder included echogenic urine sediment, bladder wall thickening, pericystic effusion, hyperechoic pericystic fat, and increased urinary echoes; and for the kidneys/ureters included pyelectasia, renomegaly, perirenal effusion, hyperechoic perirenal fat, and ureteral dilation. Six-month postdischarge outcomes were available for 61 medically treated cats and 21 of these cats had reobstruction. No findings were associated with an increased risk of reobstruction. Ultrasonographic perirenal effusion was associated with severe hyperkalemia (P = 0.009, relative risk 5.75, 95% confidence interval [1.54-21.51]). Findings supported the use of ultrasound as an adjunct for treatment planning in cats presented with urethral obstruction but not as a method for predicting risk of reobstruction.

  14. Finding falls in ambulatory care clinical documents using statistical text mining

    PubMed Central

    McCart, James A; Berndt, Donald J; Jarman, Jay; Finch, Dezon K; Luther, Stephen L

    2013-01-01

    Objective To determine how well statistical text mining (STM) models can identify falls within clinical text associated with an ambulatory encounter. Materials and Methods 2241 patients were selected with a fall-related ICD-9-CM E-code or matched injury diagnosis code while being treated as an outpatient at one of four sites within the Veterans Health Administration. All clinical documents within a 48-h window of the recorded E-code or injury diagnosis code for each patient were obtained (n=26 010; 611 distinct document titles) and annotated for falls. Logistic regression, support vector machine, and cost-sensitive support vector machine (SVM-cost) models were trained on a stratified sample of 70% of documents from one location (dataset Atrain) and then applied to the remaining unseen documents (datasets Atest–D). Results All three STM models obtained area under the receiver operating characteristic curve (AUC) scores above 0.950 on the four test datasets (Atest–D). The SVM-cost model obtained the highest AUC scores, ranging from 0.953 to 0.978. The SVM-cost model also achieved F-measure values ranging from 0.745 to 0.853, sensitivity from 0.890 to 0.931, and specificity from 0.877 to 0.944. Discussion The STM models performed well across a large heterogeneous collection of document titles. In addition, the models also generalized across other sites, including a traditionally bilingual site that had distinctly different grammatical patterns. Conclusions The results of this study suggest STM-based models have the potential to improve surveillance of falls. Furthermore, the encouraging evidence shown here that STM is a robust technique for mining clinical documents bodes well for other surveillance-related topics. PMID:23242765

  15. A prospective study of the clinical findings, treatment and histopathology of 44 cases of pyotraumatic dermatitis.

    PubMed

    Holm, Birgit R; Rest, Joan R; Seewald, Wolfgang

    2004-12-01

    Pyotraumatic dermatitis (hot spot) is a common clinical syndrome in dogs but there are few prospective scientific studies related to it. The aim of this study was to investigate correlations among clinical pyotraumatic dermatitis, histopathology of the lesions and possible predisposing causes. The relationship of these with breed, age, sex and location of lesion was assessed statistically. A clinical diagnosis of acute pyotraumatic dermatitis was made in 44 privately owned dogs. Males exceeded females (P = 0.0348) and lesions were more common in dogs aged 4 years or less (P < 0.0001). Lesions were most often seen on the cheek, neck and lateral thigh with a significant correlation between breed and site of lesion (P < 0.0001). In 31 cases a possible underlying cause was found or suspected. In contrast to previous studies, no otitis externa was recorded and the study was conducted in an area without endemic fleas. Fourteen breeds were represented of which Rottweiler, German shepherd dog and golden retriever were most common. There was no significant seasonal incidence and no correlation among site of lesion and cause, time of year, age or sex. Histopathologically, the dogs could be separated into four patterns by the presence or absence of eosinophils and/or folliculitis. Eosinophils have not previously been recorded in pyotraumatic dermatitis but were seen in 29 cases. Acute folliculitis was seen in 20 cases. However, no correlation was seen among age, sex, breed, underlying cause or site of lesion and histopathology. Twenty-seven cases were cultured for bacteria of which 25 grew Staphylococcus intermedius and two were negative.

  16. Suspected fusariomycotoxicosis in sandhill cranes (Grus canadensis): clinical and pathological findings.

    USGS Publications Warehouse

    Roffe, Thomas J.; Stroud, Richard K.; Windingstad, Ronald M.

    1989-01-01

    In 1985 and 1986, large-scale natural die-offs of sandhill cranes in Texas were attributed to fusariomycotoxicosis. These birds demonstrated a progressive loss of motor control to the neck, wings, and legs. Based on necropsy and/or histopathology of 31 cranes, the most common lesions involved skeletal muscle and included hemorrhages, granulomatous myositis, thrombosis, and vascular degeneration. Serum chemistry results revealed that levels of creatinine kinase, aspartate aminotransferase, and alanine aminotransferase were above published normals. However, only alanine aminotransferase was higher in clinically affected cranes than in normal cranes collected from the same area.

  17. [Occupational immediate allergy to latex. I. Introduction, epidemiology and clinical findings].

    PubMed

    Pałczyński, C; Walusiak, J

    1997-01-01

    For the 10 recent years the incidence of natural rubber latex (NRL) immediate allergy has dramatically increased. Allergy to latex is observed mostly among persons who regularly use rubber devices (particularly rubber gloves) or their mucous membrane is exposed to frequent contact with rubber products. The health service and the rubber industry workers are at the highest risk of latex allergy (10%). Urticaria, angioedema, bronchial asthma, conjunctivitis, rhinitis and anaphylactic shock are most common symptoms of allergy to latex. Severe systemic reactions are frequently first clinical manifestations of latex hypersensitivity. PMID:9312658

  18. Clinical observations and their relationship to laboratory findings in the haemophilias.

    PubMed

    Rainsford, S G; Hall, A

    1975-12-15

    Continuous observations in shcool terms have been made on the frequency of spontaneous bleeding episodes in a group of adolescent boys suffereing from haemophilia (39 cases), Christmas disease (9 cases), and von Willebrand's disease (2 cases). The observations suggest that in haemophilia other factors, besides the deficient factor VIII, affect the bleeding frequency. In the two boys with von Willebrand's disease, the lower level of factor VIII was associated with the milder symptoms; whereas in boys with Christmas disease clinical severity and laboratory results seemed to be correlated.

  19. A novel frameshift mutation and infrequent clinical findings in two cases with Dyggve-Melchior-Clausen syndrome.

    PubMed

    Seven, Mehmet; Koparir, Erkan; Gezdirici, Alper; Aydin, Hatip; Skladny, Heyko; Fenercioğlu, Elif; Güven, Gülgün; Karataş, Ömer Faruk; Koparir, Asuman; Özen, Mustafa; Ulucan, Hakan

    2014-01-01

    Dyggve-Melchior-Clausen syndrome (DMC) (MIM #223800) is a rare autosomal-recessive type of skeletal dysplasia accompanied by variable degrees of intellectual disability (ID). It is characterized by progressive spondyloepimetaphyseal dysplasia leading to disproportionate short stature, microcephaly, and coarse facies. The radiographic appearance of generalized platyspondyly with double-humped end plates and the lace-like appearance of iliac crests are pathognomonic in this syndrome. The disorder results from mutations in the dymeclin (DYM) mapped to the 18q12-12.1 chromosomal region. Here, we report two cases with DMC: one with disproportionate short stature, developmental delay, and severe ID with a novel frameshift mutation (c.1028_1056del29) leading to a premature stop codon, and the second patient with classical clinical and radiological features of DMC with mild ID and rectal prolapse, which is very rare. The clinical diagnosis was confirmed with molecular analysis of DYM with a known mutation at c.580C>T (p.R194X). The parents and sibling of the second patient were heterozygous carriers with mild skeletal changes and short stature.

  20. The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care

    PubMed Central

    Wilson, Brian T.; Stark, Zornitza; Sutton, Ruth E.; Danda, Sumita; Ekbote, Alka V.; Elsayed, Solaf M.; Gibson, Louise; Goodship, Judith A.; Jackson, Andrew P.; Keng, Wee Teik; King, Mary D.; McCann, Emma; Motojima, Toshino; Murray, Jennifer E.; Omata, Taku; Pilz, Daniela; Pope, Kate; Sugita, Katsuo; White, Susan M.; Wilson, Ian J.

    2016-01-01

    Purpose: Cockayne syndrome (CS) is a rare, autosomal-recessive disorder characterized by microcephaly, impaired postnatal growth, and premature pathological aging. It has historically been considered a DNA repair disorder; fibroblasts from classic patients often exhibit impaired transcription-coupled nucleotide excision repair. Previous studies have largely been restricted to case reports and small series, and no guidelines for care have been established. Genet Med 18 5, 483–493. Methods: One hundred two study participants were identified through a network of collaborating clinicians and the Amy and Friends CS support groups. Families with a diagnosis of CS could also self-recruit. Comprehensive clinical information for analysis was obtained directly from families and their clinicians. Genet Med 18 5, 483–493. Results and Conclusion: We present the most complete evaluation of Cockayne syndrome to date, including detailed information on the prevalence and onset of clinical features, achievement of neurodevelopmental milestones, and patient management. We confirm that the most valuable prognostic factor in CS is the presence of early cataracts. Using this evidence, we have created simple guidelines for the care of individuals with CS. We aim to assist clinicians in the recognition, diagnosis, and management of this condition and to enable families to understand what problems they may encounter as CS progresses. Genet Med 18 5, 483–493. PMID:26204423

  1. High-pressure paint gun injury: clinical presentation and imaging findings.

    PubMed

    Peters, Greg; Learch, Thomas; White, Eric; Forrester, Deborah

    2014-12-01

    High-pressure paint gun injuries are potentially devastating injuries that require emergent surgical incision and drainage. They result from erroneous equipment operation and accidental injection of a variety of substances at pressures high enough to breach the skin. The largely benign superficial appearance masks the extent of the underlying injury. In the absence of an appropriate history, the radiologist must recognize the characteristic radiographic findings and suggest the diagnosis to the clinician. PMID:24570121

  2. High-pressure paint gun injury: clinical presentation and imaging findings.

    PubMed

    Peters, Greg; Learch, Thomas; White, Eric; Forrester, Deborah

    2014-12-01

    High-pressure paint gun injuries are potentially devastating injuries that require emergent surgical incision and drainage. They result from erroneous equipment operation and accidental injection of a variety of substances at pressures high enough to breach the skin. The largely benign superficial appearance masks the extent of the underlying injury. In the absence of an appropriate history, the radiologist must recognize the characteristic radiographic findings and suggest the diagnosis to the clinician.

  3. Case Example of Dose Optimization Using Data From Bortezomib Dose-Finding Clinical Trials

    PubMed Central

    Backenroth, Daniel; Cheung, Ying Kuen Ken; Hershman, Dawn L.; Vulih, Diana; Anderson, Barry; Ivy, Percy; Minasian, Lori

    2016-01-01

    Purpose The current dose-finding methodology for estimating the maximum tolerated dose of investigational anticancer agents is based on the cytotoxic chemotherapy paradigm. Molecularly targeted agents (MTAs) have different toxicity profiles, which may lead to more long-lasting mild or moderate toxicities as well as to late-onset and cumulative toxicities. Several approved MTAs have been poorly tolerated during long-term administration, leading to postmarketing dose optimization studies to re-evaluate the optimal treatment dose. Using data from completed bortezomib dose-finding trials, we explore its toxicity profile, optimize its dose, and examine the appropriateness of current designs for identifying an optimal dose. Patients and Methods We classified the toxicities captured from 481 patients in 14 bortezomib dose-finding studies conducted through the National Cancer Institute Cancer Therapy Evaluation Program, computed the incidence of late-onset toxicities, and compared the incidence of dose-limiting toxicities (DLTs) among groups of patients receiving different doses of bortezomib. Results A total of 13,008 toxicities were captured: 46% of patients’ first DLTs and 88% of dose reductions or discontinuations of treatment because of toxicity were observed after the first cycle. Moreover, for the approved dose of 1.3 mg/m2, the estimated cumulative incidence of DLT was > 50%, and the estimated cumulative incidence of dose reduction or treatment discontinuation because of toxicity was nearly 40%. Conclusions When considering the entire course of treatment, the approved bortezomib dose exceeds the conventional ceiling DLT rate of 20% to 33%. Retrospective analysis of trial data provides an opportunity for dose optimization of MTAs. Future dose-finding studies of MTAs should take into account late-onset toxicities to ensure that a tolerable dose is identified for future efficacy and comparative trials. PMID:26926682

  4. [Long-term HR-Manometry of the Esophagus: first findings in clinical use].

    PubMed

    Jell, A; Wilhelm, D; Ostler, D; Feußner, H; Hüser, N

    2016-09-01

    Diagnosis of oesophageal motility disorders has been well established for many years now, although circadian gastrointestinal motility is still purely understood. So far, high-resolution manometry (HRM) is only available for short-term measurement in clinical practice to evaluate simultaneous pressure conditions throughout the esophagus. Thus, only a very limited period of time can be investigated. There is evidence that disorders in esophageal motility can cause severe discomfort and symptoms even though they only tend to occur spontaneously. When performing short-term-measurements, these often cannot be detected. Therefore, one can assume that long-term analysis of the esophageal function will provide valuable new insights, which will contribute to more effective medicamenteous and operative treatment in esophageal motility disorders. At our gastrointestinal functional diagnostic laboratory, it has been possible to perform high-resolution manometry over the period of 24 hours since June 2014. We used a manometric probe consisting of 36 pressure sensors which are connected to a mobile recording device for ambulatory measurement. This article describes our experiences in clinical use when performing long-term high-resolution manometry and discusses usability and relevance of the results in the context of the underlying esophageal motility disorder. PMID:27612220

  5. Unmet clinical needs in the management of advanced melanoma: findings from a survey of oncologists.

    PubMed

    Jones, C; Clapton, G; Zhao, Z; Barber, B; Saltman, D; Corrie, P

    2015-11-01

    Advanced melanoma is a life-threatening cancer with limited life expectancy. The recent introduction of new targeted systemic therapies has provided clinicians with the means to potentially extend survival for the first time. However, the chance of cure remains very low and treatment-induced toxicity is well described. This qualitative study was undertaken to evaluate clinicians' assessment regarding the key concerns in managing advanced melanoma following the introduction of these new treatments. Three hundred and forty-three oncologists were surveyed online between August and November 2012 (in 11 countries) and March and April 2013 (in an additional country). Analysis of free-text responses identified 23 clinical issues of concern across all countries. Of these, the most common clinical concerns were drug toxicity and tolerability, followed by limited treatment effectiveness and limited treatment options. These results suggest that despite the promise of the two new agents in the field, clinicians are still concerned about the limitations of current treatment options, recognising that there remains a significant unmet need in the treatment of advanced melanoma.

  6. 3D motion and strain estimation of the heart: initial clinical findings

    NASA Astrophysics Data System (ADS)

    Barbosa, Daniel; Hristova, Krassimira; Loeckx, Dirk; Rademakers, Frank; Claus, Piet; D'hooge, Jan

    2010-03-01

    The quantitative assessment of regional myocardial function remains an important goal in clinical cardiology. As such, tissue Doppler imaging and speckle tracking based methods have been introduced to estimate local myocardial strain. Recently, volumetric ultrasound has become more readily available, allowing therefore the 3D estimation of motion and myocardial deformation. Our lab has previously presented a method based on spatio-temporal elastic registration of ultrasound volumes to estimate myocardial motion and deformation in 3D, overcoming the spatial limitations of the existing methods. This method was optimized on simulated data sets in previous work and is currently tested in a clinical setting. In this manuscript, 10 healthy volunteers, 10 patient with myocardial infarction and 10 patients with arterial hypertension were included. The cardiac strain values extracted with the proposed method were compared with the ones estimated with 1D tissue Doppler imaging and 2D speckle tracking in all patient groups. Although the absolute values of the 3D strain components assessed by this new methodology were not identical to the reference methods, the relationship between the different patient groups was similar.

  7. Adult Dental Health Survey 2009: implications of findings for clinical practice and oral health policy.

    PubMed

    Watt, R G; Steele, J G; Treasure, E T; White, D A; Pitts, N B; Murray, J J

    2013-01-01

    This is the final paper in a series reporting on the results of the 2009 Adult Dental Health Survey. Since 1968 national adult surveys have been repeated every decade with broadly similar methods providing a unique overview of trends in oral health over a 40-year period. This paper aims to explore the implications for dentists and oral health policy of the key results from the Adult Dental Health Survey 2009. Although repeat, cross-sectional, epidemiological surveys provide very valuable data on trends in disease patterns, they do not provide answers to test causal relationships and therefore cannot identify the causes for the significant improvements in oral health over the last 40 years. Evidence would indicate, however, that broad societal shifts in population norms and behaviours, combined with changes in clinical diagnostic criteria, treatment planning and clinical procedures are the main reasons for the changes that have taken place. Key implications of the survey results include the need to monitor, support and maintain the good state of oral health of the increasing proportion of younger adults with relatively simple treatment needs. A smaller number of young and middle aged adults but a significant proportion of older adults will have far more complex treatment needs requiring advanced restorative and periodontal care. Future oral health policy will need to address oral health inequalities, encourage skill mix and promote and facilitate the dental profession to deliver appropriate and high quality care relevant to the needs of their local population.

  8. Management approach for recurrent spontaneous pneumothorax in consecutive pregnancies based on clinical and radiographic findings

    PubMed Central

    Sills, Eric Scott; Meinecke, Henry M; Dixson, George R; Johnson, Alan M

    2006-01-01

    Objective To describe management and clinical features observed in a patient's seven spontaneous pneumothoraces that developed during two consecutive pregnancies involving both hemithoraces. Materials and methods A 21 year old former smoker developed three spontaneous left pneumothoraces in the index pregnancy, having already experienced four right pneumothorax events in a prior pregnancy at age 19. Results Chest tubes were required in several (but not all) hospitalizations during these two pregnancies. Following her fourth right pneumothorax, thoracoscopic excision of right apical lung blebs and mechanical pleurodesis was performed. The series of left pneumothoraces culminated in mini-thoracotomy and thoracoscopically directed mechanical pleurodesis. For both pregnancies unassisted vaginal delivery was performed with no adverse perinatal sequelae. With the exception of multiple pneumothoraces, there were no additional pregnancy complications. Conclusion Spontaneous pneumothorax in pregnancy is believed to be a rare phenomenon, yet the exact incidence is unknown. Here we present the first known case of multiple spontaneous pneumothoraces in two consecutive pregnancies involving both hemithoraces. Clinical management coordinated with obstetrics and surgical teams facilitated a satisfactory outcome for both pregnancies. The diagnosis of pneumothorax should be contemplated in any pregnant patient with dyspnea and chest pain, followed by radiographic confirmation. PMID:17052345

  9. Key findings of the US Cystic Fibrosis Foundation's clinical practice benchmarking project.

    PubMed

    Boyle, Michael P; Sabadosa, Kathryn A; Quinton, Hebe B; Marshall, Bruce C; Schechter, Michael S

    2014-04-01

    Benchmarking is the process of using outcome data to identify high-performing centres and determine practices associated with their outstanding performance. The US Cystic Fibrosis Foundation (CFF) Patient Registry contains centre-specific outcomes data for all CFF-certified paediatric and adult cystic fibrosis (CF) care programmes in the USA. The CFF benchmarking project analysed these registry data, adjusting for differences in patient case mix known to influence outcomes, and identified the top-performing US paediatric and adult CF care programmes for pulmonary and nutritional outcomes. Separate multidisciplinary paediatric and adult benchmarking teams each visited 10 CF care programmes, five in the top quintile for pulmonary outcomes and five in the top quintile for nutritional outcomes. Key practice patterns and approaches present in both paediatric and adult programmes with outstanding clinical outcomes were identified and could be summarised as systems, attitudes, practices, patient/family empowerment and projects. These included: (1) the presence of strong leadership and a well-functioning care team working with a systematic approach to providing consistent care; (2) high expectations for outcomes among providers and families; (3) early and aggressive management of clinical declines, avoiding reliance on 'rescues'; and (4) patients/families that were engaged, empowered and well informed on disease management and its rationale. In summary, assessment of practice patterns at CF care centres with top-quintile pulmonary and nutritional outcomes provides insight into characteristic practices that may aid in optimising patient outcomes.

  10. Bovine leukocyte adhesion deficiency--clinical course and laboratory findings in eight affected animals.

    PubMed

    Müller, K E; Bernadina, W E; Kalsbeek, H C; Hoek, A; Rutten, V P; Wentink, G H

    1994-03-01

    The clinical course of Bovine Leukocyte Adhesion Deficiency (BLAD) in eight Holstein Friesian cattle is described. Affected animals were presented with a history of poor thriving and recurrent bacterial infections. Five of these animals had to be killed because of severe respiratory disease shortly after admittance. Three affected animals survived calfhood only as a result of frequent antibacterial treatments. At one year of age, failure to thrive and stunted growth were still evident, but infections requiring antibiotic treatments occurred only sporadically. Clinical manifestations of BLAD were found in the digestive system (gingivitis, periodontitis, alveolar periostitis, diarrhoea), the respiratory system and the skin (impaired wound healing, chronic dermatitis). A leukocytosis based on a mature neutrophilia, which persisted during infection-free periods, was observed in all animals. Granulocytes were substantially deficient of beta 2-integrin expression on their membranes. Anaemia, which was noted in four animals, may be related to the Anaemia of Inflammatory Disease Complex (AID). The serum total protein content increased with time and was associated with elevated gamma-globulin levels. We suggest that, at a certain age, animals affected with BLAD are able to cope with environmental agents due to compensatory mechanisms of the immune system. PMID:8009815

  11. Bovine leukocyte adhesion deficiency--clinical course and laboratory findings in eight affected animals.

    PubMed

    Müller, K E; Bernadina, W E; Kalsbeek, H C; Hoek, A; Rutten, V P; Wentink, G H

    1994-07-01

    The clinical course of Bovine Leukocyte Adhesion Deficiency (BLAD) in eight Holstein Friesian cattle is described. Affected animals were presented with a history of poor thriving and recurrent bacterial infections. Five of these animals had to be killed because of severe respiratory disease shortly after admittance. Three affected animals survived calfhood only as a result of frequent antibacterial treatments. At one year of age, failure to thrive and stunted growth were still evident, but infections requiring antibiotic treatments occurred only sporadically. Clinical manifestations of BLAD were found in the digestive system (gingivitis, periodontitis, alveolar periostitis, diarrhoea), the respiratory system and the skin (impaired wound healing, chronic dermatitis). A leukocytosis based on a mature neutrophilia, which persisted during infection-free periods, was observed in all animals. Granulocytes were substantially deficient of beta 2-integrin expression on their membranes. Anaemia, which was noted in four animals, may be related to the Anaemia of Inflammatory Disease Complex (AID). The serum total protein content increased with time and was associated with elevated gamma-globulin levels. We suggest that, at a certain age, animals affected with BLAD are able to cope with environmental agents due to compensatory mechanisms of the immune system. PMID:7985357

  12. Summary of clinical findings on Engerix-B, a genetically engineered yeast derived hepatitis B vaccine.

    PubMed

    André, F E; Safary, A

    1987-01-01

    Between February 1984 and August 1986 results have been obtained in 58 completed or ongoing clinical studies by 33 investigators in 19 countries on a yeast-derived recombinant DNA hepatitis B vaccine (Engerix-B). Among the 6100 subjects enrolled in these studies, 5664 subjects (150 normal neonates, 178 neonates of hepatitis B carrier mothers, 330 children aged 3-10 years, 3697 young healthy adults, 438 homosexual males, 110 older healthy adults, 139 drug addicts, 262 institutionalized mentally retarded patients, 59 thalassaemics, 25 sicklaemics, 270 patients on chronic haemodialysis and 6 haemophiliacs) received one or more (up to 4) injections of different doses of the yeast-derived vaccine according to either a 0, 1, 2, and 12 month or a 0, 1, and 6 month vaccination schedule. In randomized comparative studies 436 subjects received either one of two commercially available plasma-derived vaccines. The results reviewed in the present summary have shown that Engerix-B is safe, clinically well tolerated, gives an anti-HBs response which is qualitatively and quantitatively similar to that obtained with plasma-derived vaccines and confers protection against infection and disease. Engerix-B can be considered as a valid alternative to existing hepatitis B vaccines. PMID:3317357

  13. Functional piglet model for the clinical syndrome and postmortem findings induced by staphylococcal enterotoxin B.

    PubMed

    van Gessel, Yvonne A; Mani, Sachin; Bi, Shuguang; Hammamieh, Rasha; Shupp, Jeffrey W; Das, Rina; Coleman, Gary D; Jett, Marti

    2004-11-01

    Staphylococcal enterotoxin (SE) B causes serious gastrointestinal illness, and intoxication with this exotoxin can lead to lethal toxic shock syndrome. In order to overcome significant shortcomings of current rodent and nonhuman primate models, we developed a piglet model of lethal SEB intoxication. Fourteen-day-old Yorkshire piglets were given intravenous SEB, observed clinically, and sacrificed at 4, 6, 24, 48, 72, or 96 hrs posttreatment. Clinical signs were biphasic with pyrexia, vomiting, and diarrhea within 4 hrs, followed by terminal hypotension and shock by 96 hrs. Mild lymphoid lesions were identified as early as 24 hrs, with severe lymphadenopathy, splenomegaly, and prominent Peyer's patches found by 72 hrs. Widespread edema-most prominent in the mesentery, between loops of spiral colon, and in retroperitoneal connective tissue-was found in animals at 72 hrs. Additional histologic changes included perivascular aggregates of large lymphocytes variably present in the lung and brain, circulating lymphoblasts, and lymphocytic portal hepatitis. Preliminary molecular investigation using gene array has uncovered several gene profile changes that may have implications in the pathophysiology leading to irreversible shock. Five genes were selected for further study, and all showed increased mRNA levels subsequent to SEB exposure. The use of this piglet model will continue to elucidate the pathogenesis of SEB intoxication and facilitate the testing of new therapeutic regimens that may better correlate with human lesions.

  14. Dengue fever in Brazilian adults and children: assessment of clinical findings and their validity for diagnosis.

    PubMed

    Nunes-Araújo, F R F; Ferreira, M S; Nishioka, S D E A

    2003-06-01

    Although it is well known that the signs and symptoms of dengue fever (DF) may overlap with those of other diseases, few attempts have been made to assess quantitatively their validity in the diagnosis of DF. The clinical data recorded, in the Brazilian town of Uberlândia between 1993 and 1998, on the notification forms from 495 serologically confirmed cases of DF and 650 patients who tested negative for this disease were therefore compared. Fever, headache, myalgia, retro-orbital pain and arthralgia were the most commonly reported symptoms among the confirmed cases (each occurring in at least 92% of the cases), whereas haemorrhagic manifestations (reported in 7% of cases) were uncommon. Although comparisons between the two groups gave risk ratios (RR) very close to 1 for most signs and symptoms, rash [RR=1.86; 95% confidence interval (CI)=1.63-2.13] and petechiae (RR=1.38; CI=1.07-1.79) were more commonly found among the confirmed cases. As the positive and negative predictive values of all of the signs and symptoms investigated were low, diagnosis of DF should not be based solely on clinical grounds.

  15. Examining the effects of interprofessional problem-based clinical ethics: Findings from a mixed methods study.

    PubMed

    Chou, Fremen Chihchen; Kwan, Chiu-Yin; Hsin, Dena Hsin-Chen

    2016-05-01

    Understanding how interprofessional education (IPE) works in learning clinical ethics via problem-based learning (PBL) and how different professions' perspectives influence each other in this setting may inform future IPE. Eighty-nine students participated in a clinical ethics PBL and were assigned into three study groups, i.e., medical, nursing, and interprofessional groups. This study applied an explanatory sequential mixed methods design. The quantitative phase involved observation of the learning process in PBL tutorial with checklists to code students' performance of learning behaviour, ethics discussion skills, learning content explored, and analysis through comparison of accumulative percentage of the coded performance between groups. Content analysis of post-PBL homework self-reflections from interprofessional group was conducted as the following explanatory qualitative phase. Quantitative results indicated that nursing students performed favourably on course engagement, caring, and communication while medical students performed positively on issue identification and the life science aspect. Interprofessional group showed the strength of the both professions and performed best through the learning process. Content analysis revealed that students in the interprofessional group achieved interprofessional learning from recognizing the differences between to appreciating learning from each other and to sense the need of future collaboration. With early exposure to IPE, undergraduate students may learn to balance their socialized viewpoints by seeing ethical dilemmas from each other's standpoint. PMID:27152541

  16. Reporting incidental findings in genomic scale clinical sequencing--a clinical laboratory perspective: a report of the Association for Molecular Pathology.

    PubMed

    Hegde, Madhuri; Bale, Sherri; Bayrak-Toydemir, Pinar; Gibson, Jane; Jeng, Linda Jo Bone; Joseph, Loren; Laser, Jordan; Lubin, Ira M; Miller, Christine E; Ross, Lainie F; Rothberg, Paul G; Tanner, Alice K; Vitazka, Patrik; Mao, Rong

    2015-03-01

    Advances in sequencing technologies have facilitated concurrent testing for many disorders, and the results generated may provide information about a patient's health that is unrelated to the clinical indication, commonly referred to as incidental findings. This is a paradigm shift from traditional genetic testing in which testing and reporting are tailored to a patient's specific clinical condition. Clinical laboratories and physicians are wrestling with this increased complexity in genomic testing and reporting of the incidental findings to patients. An enormous amount of discussion has taken place since the release of a set of recommendations from the American College of Medical Genetics and Genomics. This discussion has largely focused on the content of the incidental findings, but the laboratory perspective and patient autonomy have been overlooked. This report by the Association of Molecular Pathology workgroup discusses the pros and cons of next-generation sequencing technology, potential benefits, and harms for reporting of incidental findings, including the effect on both the laboratory and the patient, and compares those with other areas of medicine. The importance of genetic counseling to preserve patient autonomy is also reviewed. The discussion and recommendations presented by the workgroup underline the need for continued research and discussion among all stakeholders to improve our understanding of the effect of different policies on patients, providers, and laboratories.

  17. Protection and treatment of sensorineural hearing disorders caused by exogenous factors: experimental findings and potential clinical application.

    PubMed

    Duan, Mao Li; Ulfendahl, Mats; Laurell, Göran; Counter, S A; Counter, Allen S; Pyykkö, Ilmari; Borg, Erik; Rosenhall, Ulf

    2002-07-01

    During the last decade, there have been numerous interesting findings regarding the roles of neurotrophins, nitric oxide, reactive oxygen species, glutamate receptors, and shock protein in the auditory system. These findings have provided a scientific basis for the development of techniques to protect the auditory system against trauma as well as for the treatment of peripheral hearing disorders. This review focuses on recent advances in experimental prevention and treatment of hearing impairment which are expected to be of clinical value in the near future. Viral vector and non-viral vector gene therapy and transplantation of stem cells are discussed as potential treatments of irreversible sensorineural inner ear damage.

  18. Dengue 1 epidemic in French Polynesia, 1988-1989: surveillance and clinical, epidemiological, virological and serological findings in 1752 documented clinical cases.

    PubMed

    Chungue, E; Burucoa, C; Boutin, J P; Philippon, G; Laudon, F; Plichart, R; Barbazan, P; Cardines, R; Roux, J

    1992-01-01

    An epidemic of dengue 1 occurred in French Polynesia in December 1988 and June 1989. This paper records (i) the trend of the outbreak and its surveillance and (ii) the clinical, epidemiological and virological data obtained from 1752 documented cases. The epidemic reached its peak in February in Tahiti Island, 7 weeks after its recognition. Among 6034 suspect cases reported by sentinel physicians, 60.3% were < 20 years old. The illness was classical dengue. No fatality or case of dengue haemorrhagic fever/dengue with shock syndrome was reported. Of 4792 patients subjected to laboratory testing, 41% were confirmed as positive. The serological attack rate was c. 40%. The estimated number of dengue infections in the Windward Islands was about 20,000. Transmission was associated with Aedes aegypti. Study of documented cases showed a higher confirmation rate in both the civilian population < 15 years old (46.5%) and the susceptible French military population (47.6%) than in older civilians (31.1%, P < 0.05). Furthermore, primary dengue infections were predominant in both of the first 2 groups. The diagnosis was mostly confirmed (i) by virus isolation on day < 5 of illness and (ii) by detection of immunoglobulin (Ig) M on day > or = 5 of illness. The study showed that adequate surveillance of an epidemic requires both clinically and laboratory-based systems.

  19. Dissociative experiences in obsessive-compulsive disorder and trichotillomania: clinical and genetic findings.

    PubMed

    Lochner, Christine; Seedat, Soraya; Hemmings, Sian M J; Kinnear, Craig J; Corfield, Valerie A; Niehaus, Dana J H; Moolman-Smook, Johanna C; Stein, Dan J

    2004-01-01

    A link between dissociation proneness in adulthood and self-reports of childhood traumatic events (including familial loss in childhood, sexual/physical abuse and neglect) has been documented. Several studies have also provided evidence for an association between dissociative experiences and trauma in patients with various psychiatric disorders, including post-traumatic stress disorder, borderline personality, dissociative identity and eating disorders. Based on the relative paucity of data on dissociation and trauma in obsessive-compulsive disorder (OCD) and trichotillomania (TTM), the primary objective of this study was to examine the relationship between trauma and dissociative experiences (DE) in these two diagnostic groups. Furthermore, the availability of clinical and genetic data on this sample allowed us to explore clinical and genetic factors relevant to this association. A total of 110 OCD and 32 TTM patients were compared with respect to the degree of dissociation (using the Dissociative Experiences Scale [DES]) and childhood trauma (using the Childhood Trauma Questionnaire [CTQ]). Patients were classified on the DES as either "high" (mean DES score >/= 30) or "low" (mean DES score < 30) dissociators. Additional clinical and genetic factors were also explored with chi-square and t tests as appropriate. A total of 15.8% of OCD patients and 18.8% of TTM patients were high dissociators. OCD and TTM groups were comparable on DES and CTQ total scores, and in both OCD and TTM groups, significant positive correlations were found between mean DES scores and mean CTQ subscores of emotional abuse, physical abuse, sexual abuse, and physical neglect. In the OCD group, high dissociators were significantly younger than low dissociators, and significantly more high dissociators than low dissociators reported a lifetime (current and past) history of tics (P <.001), Tourette's syndrome (P =.019), bulimia nervosa (P =.003), and borderline personality disorder (P =.027

  20. Clinical findings, dental treatment, and improvement in quality of life for a child with Rothmund-Thomson syndrome.

    PubMed

    De Oliveira, Katharina Morant Holanda; Silva, Raquel Assed Bezerra; Carvalho, Fabricio Kitazono; Silva, Lea Assed Bezerra; Nelson-Filho, Paulo; Queiroz, Alexandra Mussolino

    2016-01-01

    The purpose of this study was to report the clinical findings, dental treatment, and improvement in quality of life for a child with Rothmund-Thomson syndrome. The patient had alopecia, delayed speech, low weight and height, cholestasis, and iron deficiency anemia. Furthermore, there were carious lesions and darkened spots on all primary molars. Microdontia of a premolar was observed at the radiographic examination. The patient and family had no commitment to her oral health and dental treatment at first appointments. Oral hygiene instructions, composite restorations, endodontic treatments, teeth extractions, and stainless steel crown installations were performed. The patient was followed up for 7 years through the present due to other possible future clinical findings associated with the syndrome. An improvement in social aspects was observed after removal of toothache and improved esthetics. Such patients need continuous periodic services, which contributes to improving the quality of life in both buccal and general aspects.

  1. Clinical findings, dental treatment, and improvement in quality of life for a child with Rothmund-Thomson syndrome.

    PubMed

    De Oliveira, Katharina Morant Holanda; Silva, Raquel Assed Bezerra; Carvalho, Fabricio Kitazono; Silva, Lea Assed Bezerra; Nelson-Filho, Paulo; Queiroz, Alexandra Mussolino

    2016-01-01

    The purpose of this study was to report the clinical findings, dental treatment, and improvement in quality of life for a child with Rothmund-Thomson syndrome. The patient had alopecia, delayed speech, low weight and height, cholestasis, and iron deficiency anemia. Furthermore, there were carious lesions and darkened spots on all primary molars. Microdontia of a premolar was observed at the radiographic examination. The patient and family had no commitment to her oral health and dental treatment at first appointments. Oral hygiene instructions, composite restorations, endodontic treatments, teeth extractions, and stainless steel crown installations were performed. The patient was followed up for 7 years through the present due to other possible future clinical findings associated with the syndrome. An improvement in social aspects was observed after removal of toothache and improved esthetics. Such patients need continuous periodic services, which contributes to improving the quality of life in both buccal and general aspects. PMID:27307676

  2. Clinical findings, dental treatment, and improvement in quality of life for a child with Rothmund-Thomson syndrome

    PubMed Central

    De Oliveira, Katharina Morant Holanda; Silva, Raquel Assed Bezerra; Carvalho, Fabricio Kitazono; Silva, Lea Assed Bezerra; Nelson-Filho, Paulo; Queiroz, Alexandra Mussolino

    2016-01-01

    The purpose of this study was to report the clinical findings, dental treatment, and improvement in quality of life for a child with Rothmund-Thomson syndrome. The patient had alopecia, delayed speech, low weight and height, cholestasis, and iron deficiency anemia. Furthermore, there were carious lesions and darkened spots on all primary molars. Microdontia of a premolar was observed at the radiographic examination. The patient and family had no commitment to her oral health and dental treatment at first appointments. Oral hygiene instructions, composite restorations, endodontic treatments, teeth extractions, and stainless steel crown installations were performed. The patient was followed up for 7 years through the present due to other possible future clinical findings associated with the syndrome. An improvement in social aspects was observed after removal of toothache and improved esthetics. Such patients need continuous periodic services, which contributes to improving the quality of life in both buccal and general aspects. PMID:27307676

  3. [Clinical and laryngoscopic findings in a Swiss Alpine goat with left grade 4 laryngeal hemiplegia].

    PubMed

    Tschuor, A C; Schade, B; Feller, B; Wehrli, M; Braun, U

    2007-12-01

    This case report describes the diagnostic trial of an inspiratory wheeze in a 1.5-year-old Swiss Alpine goat. Left grade 4 laryngeal hemiplegia was diagnosed via laryngoscopy, whereas the severity of the hemiplegia was assessed according to the grading system used in horses. The results of clinical, radiographic, sonographic and endoscopic examinations as well as haematological, biochemical and serological analyses did not reveal the cause of the hemiplegia. Treatment with an antibiotic and vitamin B complex resulted in only slight improvement. A postmortem examination four months later revealed no gross lesions in the left laryngeal nerve, larynx and intrinsic laryngeal musculature. Histological examination of the nerve, arytenoid cartilage and intrinsic laryngeal musculature also showed no lesions. Therefore, the cause of the disease in this goat is suspected to be on the cellular or molecular level of the intrinsic laryngeal musculature.

  4. Mucocele of the gland of Blandin-Nuhn: histological and clinical findings.

    PubMed

    de Camargo Moraes, Paulo; Bönecker, Marcelo; Furuse, Christiane; Thomaz, Luis Alexandre; Teixeira, Rubens Gonçalves; de Araújo, Vera Cavalcanti

    2009-09-01

    The authors examined the clinical and histopathological features of 48 cases of mucocele of the glands of Blandin-Nuhn. Data of all patients with mucocele treated at the Department of Oral and Maxillofacial Surgery totaled 312 cases during the 6-year period of study were analyzed. There was no sex predominance, and most patients were younger than 20 years. All lesions were located on the ventral surface of the tongue, and they were more frequently observed at the tip of the tongue whereas few ones occurred more posteriorly. All lesions presented a polypoid appearance. Histopathologically, the mucoceles were of the extravasation type and trauma might be the most frequent etiological factor. This type of mucocele was the second most frequent one and should not be considered rare.

  5. Clinical and Radiological Findings of Autosomal Dominant Osteopetrosis Type II: A Case Report

    PubMed Central

    Kant, Priyanka; Sharda, Neelkamal; Bhowate, Rahul R.

    2013-01-01

    Osteopetrosis is a rare inherited genetic disease characterized by sclerosis of the skeleton caused by the absence or malfunction of osteoclasts. Three distinct forms of the disease have been recognized, autosomal dominant osteopetrosis being the most common. Autosomal dominant osteopetrosis exhibits a heterogeneous trait with milder symptoms, often at later childhood or adulthood. The aim of this case report is to present the clinical and radiographic features of a 35-year-old female patient with autosomal dominant osteopetrosis type II who exhibited features of chronic generalised periodontitis, and the radiographs revealed generalised osteosclerosis and hallmark radiographic features of ADO type II, that is, “bone-within-bone appearance” and “Erlenmeyer-flask deformity.” PMID:24260721

  6. Clinical and MRI findings of cerebellar agenesis in two living adult patients

    PubMed Central

    Gelal, Fazıl Mustafa; Kalaycı, Tuğçe Özlem; Çelebisoy, Mehmet; Karakaş, Levent; Akkurt, Hülya Erdoğan; Koç, Feray

    2016-01-01

    Cerebellar agenesis (CA) is an extremely rare entity. We present two adult patients with CA. The 61-year-old man had ataxia, dysarthria, abnormalities in cerebellar tests, severe cognitive impairment, and moderate mental retardation. The 26-year-old woman had dysmetria, dysdiadochokinesia, and dysarthria as well as mild cognitive impairment and mild mental retardation. Magnetic resonance imaging (MRI) showed complete absence of the cerebellum with small residual vermis. Brainstem was hypoplastic and structures above tentorium were normal. Supratentorial white matter bundles were unaffected in diffusion tensor tractography. Only few adult patients with CA have so far been published. These cases show that patients with CA present with a variety of developmental, clinical, and mental abnormalities; and emphasize the role of the cerebellum in normal motor, language, and mental development. PMID:27293341

  7. [Epidemiological and clinical findings in congenital heart diseases during the neonatal period. Report on personal cases].

    PubMed

    Distefano, G; Sciacca, P; Parisi, M G; Marletta, M; Mattia, C; Tornambene, G; Romeo, M G

    1997-01-01

    Cardiovascular impairment is frequent in the neonatal period and can be linked to malformative and non malformative pathologies. The Authors performed a retrospective study on the incidence of these two types of pathologies in a population of 3326 newborns who underwent cardiological examination. Malformative cardiopathy was observed in 779 (23.4%) of them, while non malformative cardiopathy was present in 316 (9.5%). Acyanogen forms (86.7%) were more common than cyanogen forms (13.2%) in malformative, while cyanogen forms (64.8%) were more frequent than acyanogen ones (35.1%) in non malformative cardiopathies. The Authors reviewed the incidence of the single cardiac defects and report some clinical and physiopathological considerations that underline the need for prompt differential diagnosis and the validity of echocardiography in achieving this aim.

  8. A Putative Case of Methotrexate-Related Lymphoma: Clinical Course and PET/CT Findings

    PubMed Central

    Jankowitz, Rachel C.; Ganon, James; Blodgett, Todd; Garcia, Christine; Jacobs, Samuel

    2009-01-01

    Patients with autoimmune conditions develop lymphoproliferative disorders (LPDs) at a higher frequency than normal both in association with and independent of Methotrexate (MTX). We describe a case of MTX-associated lymphoma in a patient with psoriasis on long-standing MTX. The case is notable for the initial tumor burden, the dramatic disappearance of the PET-CT findings on discontinuation of MTX, and the subsequent early regrowth of disease. Our case report is illustrative of an MTX-related NHL in an autoimmune patient. Conclusion. Withdrawal of MTX in a patient with lymphoma is reasonable before initiating chemotherapy, but observation for early regrowth of disease is necessary. PMID:20069057

  9. Anterior composite restorations in clinical practice: findings from a survey with general dental practitioners

    PubMed Central

    DEMARCO, Flávio Fernando; BALDISSERA, Rudimar Antonio; MADRUGA, Francine Cardozo; SIMÕES, Roberto Cuchiara; LUND, Rafael Guerra; CORREA, Marcos Britto; CENCI, Maximiliano Sergio

    2013-01-01

    Objectives The aim of this study was to assess technical preferences of general dental practitioners when restoring anterior composite restorations. How the level of clinical experience or post-graduate training infuenced their options was also tested. Material and Methods A cross-sectional study was performed using a questionnaire with general dental practitioners (GDPs) (n=276) in Southern Brazil. Information regarding post graduation training (specialization, master's or PhD degree) and linical experience (years since completing graduation) were gathered. The options regarding anterior composite restorations (type of composite, adhesive system, light curing unit, polishing procedures and rubber dam use) were collected. Data were submitted to descriptive analysis and associations were tested. Results Response rate was 68% (187). GDPs selected microhybrid composite (52%) and 2-step total etch adhesive system (77%). LED was the preferred method of activation for 72.8%. Immediate polishing was preferred by 75%, using a combination of techniques. Most of the respondents (74.3%) did not use rubber dam. More experienced clinicians used more halogen lights (p<0.022), performed more light monitoring (p<0.001) and were resistant to use rubber dam (p<0.012). Dentists with post-graduation training used 3-etch-and-rinse system more frequently (p<0.04), usually monitored light intensity (p<0.014) and placed rubber dam more frequently (p<0.044). Conclusions Hybrid composite, simplifed adhesives, LED units and immediate polishing were preferred by Southern Brazilian dentists for anterior composite restorations. Few dentists used rubber dam to perform composite restorations in anterior teeth. Clinical experience and post-graduation training infuenced the dentists' choices. PMID:24473714

  10. Combined central and peripheral demyelination: Clinical features, diagnostic findings, and treatment.

    PubMed

    Cortese, A; Franciotta, D; Alfonsi, E; Visigalli, N; Zardini, E; Diamanti, L; Prunetti, P; Osera, C; Gastaldi, M; Berzero, G; Pichiecchio, A; Piccolo, G; Lozza, A; Piscosquito, G; Salsano, E; Ceroni, M; Moglia, A; Bono, G; Pareyson, D; Marchioni, E

    2016-04-15

    Combined central and peripheral demyelination (CCPD) is rare, and current knowledge is based on case reports and small case series. The aim of our study was to describe the clinical features, diagnostic results, treatment and outcomes in a large cohort of patients with CCPD. Thirty-one patients entered this retrospective, observational, two-center study. In 20 patients (65%) CCPD presented, after an infection, as myeloradiculoneuropathy, encephalopathy, cranial neuropathy, length-dependent peripheral neuropathy, or pseudo-Guillain-Barré syndrome. Demyelinating features of peripheral nerve damage fulfilling European Federation of Neurological Societies/Peripheral Nerve Society (EFNS/PNS) electrodiagnostic criteria for CIDP were found in 23 patients (74%), and spatial dissemination of demyelinating lesions on brain MRI fulfilling the 2010 McDonald criteria for multiple sclerosis (MS) in 11 (46%). Two thirds of the patients had a relapsing or progressive disease course, usually related to the appearance of new spinal cord lesions or worsening of the peripheral neuropathy, and showed unsatisfactory responses to high-dose corticosteroids and intravenous immunoglobulins. The clinical presentation of CCPD was severe in 22 patients (71%), who were left significantly disabled. Our data suggest that CCPD has heterogeneous features and shows frequent post-infectious onset, primary peripheral nervous system or central nervous system involvement, a monophasic or chronic disease course, inadequate response to treatments, and a generally poor outcome. We therefore conclude that the current diagnostic criteria for MS and CIDP may not fully encompass the spectrum of possible manifestations of CCPD, whose pathogenesis remains largely unknown.

  11. Working Memory and Hearing Aid Processing: Literature Findings, Future Directions, and Clinical Applications

    PubMed Central

    Souza, Pamela; Arehart, Kathryn; Neher, Tobias

    2015-01-01

    Working memory—the ability to process and store information—has been identified as an important aspect of speech perception in difficult listening environments. Working memory can be envisioned as a limited-capacity system which is engaged when an input signal cannot be readily matched to a stored representation or template. This “mismatch” is expected to occur more frequently when the signal is degraded. Because working memory capacity varies among individuals, those with smaller capacity are expected to demonstrate poorer speech understanding when speech is degraded, such as in background noise. However, it is less clear whether (and how) working memory should influence practical decisions, such as hearing treatment. Here, we consider the relationship between working memory capacity and response to specific hearing aid processing strategies. Three types of signal processing are considered, each of which will alter the acoustic signal: fast-acting wide-dynamic range compression, which smooths the amplitude envelope of the input signal; digital noise reduction, which may inadvertently remove speech signal components as it suppresses noise; and frequency compression, which alters the relationship between spectral peaks. For fast-acting wide-dynamic range compression, a growing body of data suggests that individuals with smaller working memory capacity may be more susceptible to such signal alterations, and may receive greater amplification benefit with “low alteration” processing. While the evidence for a relationship between wide-dynamic range compression and working memory appears robust, the effects of working memory on perceptual response to other forms of hearing aid signal processing are less clear cut. We conclude our review with a discussion of the opportunities (and challenges) in translating information on individual working memory into clinical treatment, including clinically feasible measures of working memory. PMID:26733899

  12. Working Memory and Hearing Aid Processing: Literature Findings, Future Directions, and Clinical Applications.

    PubMed

    Souza, Pamela; Arehart, Kathryn; Neher, Tobias

    2015-01-01

    Working memory-the ability to process and store information-has been identified as an important aspect of speech perception in difficult listening environments. Working memory can be envisioned as a limited-capacity system which is engaged when an input signal cannot be readily matched to a stored representation or template. This "mismatch" is expected to occur more frequently when the signal is degraded. Because working memory capacity varies among individuals, those with smaller capacity are expected to demonstrate poorer speech understanding when speech is degraded, such as in background noise. However, it is less clear whether (and how) working memory should influence practical decisions, such as hearing treatment. Here, we consider the relationship between working memory capacity and response to specific hearing aid processing strategies. Three types of signal processing are considered, each of which will alter the acoustic signal: fast-acting wide-dynamic range compression, which smooths the amplitude envelope of the input signal; digital noise reduction, which may inadvertently remove speech signal components as it suppresses noise; and frequency compression, which alters the relationship between spectral peaks. For fast-acting wide-dynamic range compression, a growing body of data suggests that individuals with smaller working memory capacity may be more susceptible to such signal alterations, and may receive greater amplification benefit with "low alteration" processing. While the evidence for a relationship between wide-dynamic range compression and working memory appears robust, the effects of working memory on perceptual response to other forms of hearing aid signal processing are less clear cut. We conclude our review with a discussion of the opportunities (and challenges) in translating information on individual working memory into clinical treatment, including clinically feasible measures of working memory. PMID:26733899

  13. Metabolic Polymorphisms and Clinical Findings Related to Benzene Poisoning Detected in Exposed Brazilian Gas-Station Workers.

    PubMed

    Mitri, Simone; Fonseca, Antônio Sérgio Almeida; Otero, Ubirani Barros; Tabalipa, Marianne Medeiros; Moreira, Josino Costa; Sarcinelli, Paula de Novaes

    2015-07-21

    Benzene is a ubiquitous environmental pollutant and an important industrial chemical present in both gasoline and motor vehicle emissions. Occupational human exposure to benzene occurs in the petrochemical and petroleum refining industries as well as in gas-station workers, where it can lead to benzene poisoning (BP), but the mechanisms of BP are not completely understood. In Brazil, a significant number of gas-station service workers are employed. The aim of the present study was to evaluate alterations related to BP and metabolic polymorphisms in gas-station service workers exposed to benzene in the city of Rio de Janeiro, Brazil. Occupational exposure was based on clinical findings related to BP, and metabolic polymorphisms in 114 Brazilian gas-station attendants. These workers were divided into No Clinical Findings (NCF) and Clinical Findings (CF) groups. Neutrophil and Mean Corpuscular Volume (MCV) showed a significant difference between the two study groups, and neutrophil has the greatest impact on the alterations suggestive of BP. The clinical findings revealed higher frequencies of symptoms in the CF group, although not all members presented statistical significance. The frequencies of alleles related to risk were higher in the CF group for GSTM1, GSTT1, CYP2E1 7632T > A, but lower for NQO1 and CYP2E1 1053C > T genotypes. Moreover, an association was found between GSTM1 null and alterations related to BP, but we did not observe any effects of other polymorphisms. Variations in benzene metabolizing genes may modify benzene toxicity and should be taken into consideration during risk assessment evaluations.

  14. Clinical presentation and laboratory findings for the first autochthonous cases of dengue fever in Madeira island, Portugal, October 2012.

    PubMed

    Alves, M J; Fernandes, P L; Amaro, F; Osório, H; Luz, T; Parreira, P; Andrade, G; Zé-Zé, L; Zeller, H

    2013-01-01

    An outbreak of dengue fever in Madeira island was reported in 2012. Clinical and laboratory findings of the first two laboratory-confirmed autochthonous cases are reported. Both cases had fever (≥38 °C) and petechial rash. Symptoms also included myalgia, asthenia, nausea, vomiting, anorexia, diffuse abdominal pain, and diarrhoea. The two cases were confirmed by serology and one tested positive for a dengue viral sequence. Dengue virus serotype DEN-1 was identified with probable Central or South American origin.

  15. Comparation of clinical and paraclinical findings among patient with Kawasaki disease in Bandar abbas Koodakan Hospital in 2011-14

    NASA Astrophysics Data System (ADS)

    Borjali, Davood

    Title: Comparation of clinical and paraclinical findings among patient with Kawasaki disease in Bandar abbas Koodakan Hospital in 2011-14 Kawasaki disease(KD) is a kind of vasculitis diagnosed by clinical manifestation and it caused acquired heart disease in children because of coronary arteries involvement. Method: patient divided to three group of American Japanese and incomplete and also study in two group according to fever days and then clinical features and laboratory data were checked. Result: A total of 150 patients were enrolled during the study period. number of patients with incomplete Kawasaki disease was 128 american group was 28 and Japanese was 4 patients, the most prevalent symptom was scaling of extremities(61 bladder most seen in group with fever more than five days. Keyword: Kawasaki , epidemiology , criteria

  16. Somatosensory evoked potentials in cervical spondylosis. Correlation of median, ulnar and posterior tibial nerve responses with clinical and radiological findings.

    PubMed

    Yu, Y L; Jones, S J

    1985-06-01

    Somatosensory evoked potentials (SEPs) following median, ulnar and tibial nerve stimulation were recorded from sites over the shoulders, neck and scalp in 34 patients with cervical spondylosis. Twenty control subjects were matched for sex and age. Detailed clinical and radiological data were assembled, with particular attention to the sensory modalities impaired and the locus and severity of cord compression. The patients were divided clinically into 4 groups: combined myelopathy and radiculopathy (6 cases), myelopathy alone (15), radiculopathy (6) and neck pain (7). Four cases are described in detail. SEP abnormalities were strongly correlated with clinical myelopathy, but not with radiculopathy. Median and ulnar nerve responses were less often affected than tibial, even with myelopathy above C6 level. Tibial nerve SEP abnormalities were strongly correlated with posterior column signs on the same side of the body, but not with anterolateral column sensory signs. In myelopathy cases, the SEP examination appeared to be more sensitive to sensory pathway involvement than clinical sensory testing. SEP abnormalities were infrequent in cases of radiculopathy and neck pain, bearing no relation to the clinical locus of root lesions. Abnormal SEPs consistent with subclinical posterior column involvement, however, were recorded in 1 patient with radiculopathy and 2 with neck pain. Follow-up recordings made postoperatively in 7 myelopathy cases reflected the clinical course (improvement, deterioration or no change) in 4, but failed to reflect improvement in 3. The correlation of SEP findings with radiological data was generally poor. SEP abnormalities were detected in 6 out of 8 patients with clinical myelopathy but no radiological evidence of posterior cord compression, suggesting that impairment of the blood supply may be an important factor contributing to cord damage. An application for SEPs in the clinical management of cervical spondylosis may lie in the detection of

  17. A Bayesian Dose-finding Design for Oncology Clinical Trials of Combinational Biological Agents

    PubMed Central

    Cai, Chunyan; Yuan, Ying; Ji, Yuan

    2013-01-01

    Treating patients with novel biological agents is becoming a leading trend in oncology. Unlike cytotoxic agents, for which efficacy and toxicity monotonically increase with dose, biological agents may exhibit non-monotonic patterns in their dose-response relationships. Using a trial with two biological agents as an example, we propose a dose-finding design to identify the biologically optimal dose combination (BODC), which is defined as the dose combination of the two agents with the highest efficacy and tolerable toxicity. A change-point model is used to reflect the fact that the dose-toxicity surface of the combinational agents may plateau at higher dose levels, and a flexible logistic model is proposed to accommodate the possible non-monotonic pattern for the dose-efficacy relationship. During the trial, we continuously update the posterior estimates of toxicity and efficacy and assign patients to the most appropriate dose combination. We propose a novel dose-finding algorithm to encourage sufficient exploration of untried dose combinations in the two-dimensional space. Extensive simulation studies show that the proposed design has desirable operating characteristics in identifying the BODC under various patterns of dose-toxicity and dose-efficacy relationships. PMID:24511160

  18. A Bayesian Dose-finding Design for Oncology Clinical Trials of Combinational Biological Agents.

    PubMed

    Cai, Chunyan; Yuan, Ying; Ji, Yuan

    2014-01-01

    Treating patients with novel biological agents is becoming a leading trend in oncology. Unlike cytotoxic agents, for which efficacy and toxicity monotonically increase with dose, biological agents may exhibit non-monotonic patterns in their dose-response relationships. Using a trial with two biological agents as an example, we propose a dose-finding design to identify the biologically optimal dose combination (BODC), which is defined as the dose combination of the two agents with the highest efficacy and tolerable toxicity. A change-point model is used to reflect the fact that the dose-toxicity surface of the combinational agents may plateau at higher dose levels, and a flexible logistic model is proposed to accommodate the possible non-monotonic pattern for the dose-efficacy relationship. During the trial, we continuously update the posterior estimates of toxicity and efficacy and assign patients to the most appropriate dose combination. We propose a novel dose-finding algorithm to encourage sufficient exploration of untried dose combinations in the two-dimensional space. Extensive simulation studies show that the proposed design has desirable operating characteristics in identifying the BODC under various patterns of dose-toxicity and dose-efficacy relationships. PMID:24511160

  19. Clinical and Pathologic Findings of Spitz Nevi and Atypical Spitz Tumors with ALK Fusions

    PubMed Central

    Busam, Klaus J; Kutzner, Heinz; Cerroni, Lorenzo; Wiesner, Thomas

    2016-01-01

    Spitz tumors represent a group of melanocytic neoplasms that typically affects young individuals. Microscopically the lesions are composed of cytologically distinct spindle and epithelioid melanocytes, with a range in the architectural display or the cells, their nuclear features, and secondary epidermal or stromal changes. Recently, kinase fusions have been documented in a subset of Spitz tumors, but there is limited information on the clinical and pathologic features associated with those lesions. Here, we report a series of 17 patients (9 male, 8 female) with spitzoid neoplasms showing ALK fusions (5 Spitz nevi and 12 atypical Spitz tumors). The patients’ ages ranged from 2 years to 35 years (mean = 17; median = 16). Most lesions were located on the lower extremities and presented clinically as polypoid nodules. All tumors were compound melanocytic proliferations with a predominant intradermal growth. Tumor thickness ranged from 1.1 to 6 mm (mean = 2.9 mm; median = 2.5 mm). The most characteristic histopathologic feature of the tumors (seen in all but two lesions) was a plexiform dermal growth of intersecting fascicles of fusiform melanocytes. All but two tumors were amelanotic. All tumors were strongly immunoreactive for ALK. The ALK rearrangements were confirmed in all cases by fluorescence in situ hybridization (FISH) and the fusion partner was determined by quantitative polymerase chain reaction as TPM3 (tropomyosin 3) in 11 cases and DCTN1 (dynactin 1) in 6 cases. None of the eight tumors, which were analyzed by FISH for copy number changes of 6p, 6q, 9p, or 11q met criteria for melanoma. Two patients underwent a sentinel lymph node biopsy, and in both cases melanocytes nests were found in the subcapsular sinus of the node. Array comparative genomic hybridization of these two tumors revealed no chromosomal gains or losses. In conclusion, our study revealed that Spitz nevi/tumors with ALK rearrangement show a characteristic plexiform morphology and that

  20. Anophthalmia-plus syndrome with unusual findings. A clinical report and review of the literature.

    PubMed

    Cayir, A; Tasdemir, S; Eroz, R; Yuce, I; Orbak, Z; Tatar, A

    2013-01-01

    We present a male child at 3 years old with Anophthalmia-Plus Syndrome (APS). He has asymmetry of the face and head, left choanal atresia, a sunken facial appearance, microphthalmia in the right eye, severe microphthalmia in the left eye, bilateral low-set ears, scarring from cleft palate surgery. Magnetic resonance imaging (MRI) sections revealed decreased right globe volume, an undeveloped left globe, decreased left optical nerve thickness, Chiari type 2 malformation, left choanal atresia and cleft palate. Echocardiography and abdominal ultrasonography were normal. The patient has a 45 dB conductive hearing loss in the left ear. Repeated thyroid function tests were evaluated as compatible with central hypothyroidism. We report a Fryns Anophthalmia-Plus Syndrome in a child with unusual findings including central hypothyroidism, chiari type 2 malformation, conductive hearing loss and developmental regression. Summary of the features reported in the present case and all 14 previous cases that might be defined as APS.

  1. Clinical appearance of orofacial infections of odontogenic origin in relation to microbiological findings.

    PubMed Central

    Heimdahl, A; von Konow, L; Satoh, T; Nord, C E

    1985-01-01

    Fifty-eight patients with acute orofacial infections of odontogenic origin were classified into two groups with respect to the severity of infection. A total of 174 anaerobic and 22 aerobic bacterial strains were isolated. Anaerobic gram-negative rods were isolated more frequently from the patients with severe infections than from the patients with infections judged as mild (P less than 0.05). The occurrence of Fusobacterium nucleatum especially appeared to be associated with the severity of the infections (P less than 0.05). Penicillin resistance among the anaerobes was rarely found, while resistance to erythromycin was a common finding. All aerobic and anaerobic bacteria were susceptible to clindamycin, and all obligate anaerobic bacteria were susceptible to nitroimidazoles. PMID:4031041

  2. Demographic and Clinical Findings in Children Undergoing Bronchoscopy for Foreign Body Aspiration

    PubMed Central

    Safari, Mojgan; Manesh, Mohammad Reza Hashemi

    2016-01-01

    Background: Foreign body aspiration (FBA) is a significant cause of airway distress, mortality, and morbidity in children. Diagnosis of FBA can be challenging and is sometimes delayed for weeks or even months. If not diagnosed and treated promptly, FBA can result in serious consequences. Methods: For this retrospective study, we investigated the medical records of 89 children who underwent bronchoscopy for suspected FBA and recorded relevant demographic, clinical, and treatment data. Results: Of the 89 patients identified for this study, 51 had a definitive diagnosis of FBA. Among these patients, choking, chronic cough and wheezing, cyanosis, and dyspnea were the most frequent symptoms of FBA. The foreign bodies were located in the left bronchus (45.1%), the right bronchus (35.3%), the trachea (15.7%), and in both the right and left bronchi (3.9%). Seeds were the most prevalent foreign body, found in 39.2% of the patients. Conclusion: Lack of complete medical history in patients with suspected FBA is one of the main causes of delayed FBA diagnosis. Bronchoscopy is considered the definitive diagnostic method for FBA and should be conducted in all patients with suspected FBA because of the low risk of complications and reduced probability that FBA diagnosis and treatment will be delayed. PMID:27303219

  3. A FURTHER PATIENT OF PURE 15q DELETION: CLINICAL AND MOLECULAR CYTOGENETIC FINDINGS.

    PubMed

    Solmaz, A Ece; Durmaz, B; Braekeleer, M D; Cogulu, O; Ozkinay, F

    2016-01-01

    A deletion of the distal long arm of chromosome 15 is generally reported with the formation of ring chromosome 15, whereas an isolated 15q deletion is rarely described. Here we report an 11 year-old girl, from non-consanguineous parents, who was referred to the Pediatric Genetics Department with growth retardation and multiple congenital abnormalities. In her medical history, she had a cleft palate, hip dislocation and crossed renal ectopia. Dysmorphological evaluation revealed a triangular face, low-set ears, fissured cleft tongue, micrognathia, proximally placed hypoplastic thumbs, genu valgus, 2-3 toe skin syndactyly, clinodactyly and nail hypoplasia. Speech problems were also noticed. The karyotype was normal. Subtelomeric fluorescent in-situ hybridisation (FISH) analysis showed a de novo terminal deletion about 755 kb. Furthermore, the breakpoint was located within the CHSY1 gene that is responsible for Temtamy preaxial brachydactyly syndrome which shares clinical features with 15qter deletion syndrome. To the best of our knowledge, this deletion is the smallest among reported patients. It is considered that the patient presented here significant contribution to phenotype-genotype correlation in 15q deletion patients. PMID:27192887

  4. Reward circuitry dysfunction in psychiatric and neurodevelopmental disorders and genetic syndromes: animal models and clinical findings

    PubMed Central

    2012-01-01

    This review summarizes evidence of dysregulated reward circuitry function in a range of neurodevelopmental and psychiatric disorders and genetic syndromes. First, the contribution of identifying a core mechanistic process across disparate disorders to disease classification is discussed, followed by a review of the neurobiology of reward circuitry. We next consider preclinical animal models and clinical evidence of reward-pathway dysfunction in a range of disorders, including psychiatric disorders (i.e., substance-use disorders, affective disorders, eating disorders, and obsessive compulsive disorders), neurodevelopmental disorders (i.e., schizophrenia, attention-deficit/hyperactivity disorder, autism spectrum disorders, Tourette’s syndrome, conduct disorder/oppositional defiant disorder), and genetic syndromes (i.e., Fragile X syndrome, Prader–Willi syndrome, Williams syndrome, Angelman syndrome, and Rett syndrome). We also provide brief overviews of effective psychopharmacologic agents that have an effect on the dopamine system in these disorders. This review concludes with methodological considerations for future research designed to more clearly probe reward-circuitry dysfunction, with the ultimate goal of improved intervention strategies. PMID:22958744

  5. The delayed sleep phase syndrome: clinical and investigative findings in 14 subjects.

    PubMed

    Alvarez, B; Dahlitz, M J; Vignau, J; Parkes, J D

    1992-08-01

    Fourteen subjects are described in whom a clinical diagnosis of the delayed sleep phase syndrome was made. The condition is multi-factorial, dependent on lifestyle, mood and personality, as well as on familial factors but no single factor in isolation is sufficient to explain the delay in sleep timing. Refusal to attend school may be important in some instances but will not explain cases with delayed age of onset. In half the subjects the delay in sleep phase started in childhood or adolescence. The syndrome causes severe disruption to education, work and family life. Polysomnography, motor activity monitoring of rest-activity cycles, plasma melatonin profiles and urinary melatonin metabolite excretion are normal. Different patterns of sleep phase delay seen in the syndrome include stable, progressive, irregular and non-24 hour sleep-wake cycles. These patterns may result from different social and other Zeitgebers ("time-markers", for example sunrise, sunset) in the normal environment. Treatment by forced sleep-wake phase advance or with melatonin resulted in a partial sleep-phase advance but this was not maintained on stopping treatment. PMID:1527536

  6. Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes

    PubMed Central

    Edwards, Timothy J.; Sherr, Elliott H.; Barkovich, A. James

    2014-01-01

    The corpus callosum is the largest fibre tract in the brain, connecting the two cerebral hemispheres, and thereby facilitating the integration of motor and sensory information from the two sides of the body as well as influencing higher cognition associated with executive function, social interaction and language. Agenesis of the corpus callosum is a common brain malformation that can occur either in isolation or in association with congenital syndromes. Understanding the causes of this condition will help improve our knowledge of the critical brain developmental mechanisms required for wiring the brain and provide potential avenues for therapies for callosal agenesis or related neurodevelopmental disorders. Improved genetic studies combined with mouse models and neuroimaging have rapidly expanded the diverse collection of copy number variations and single gene mutations associated with callosal agenesis. At the same time, advances in our understanding of the developmental mechanisms involved in corpus callosum formation have provided insights into the possible causes of these disorders. This review provides the first comprehensive classification of the clinical and genetic features of syndromes associated with callosal agenesis, and provides a genetic and developmental framework for the interpretation of future research that will guide the next advances in the field. PMID:24477430

  7. Clinical findings in MuSK-antibody positive myasthenia gravis: a U.S. experience.

    PubMed

    Pasnoor, Mamatha; Wolfe, Gil I; Nations, Sharon; Trivedi, Jaya; Barohn, Richard J; Herbelin, Laura; McVey, April; Dimachkie, Mazen; Kissel, John; Walsh, Ronan; Amato, Anthony; Mozaffar, Tahseen; Hungs, Marcel; Chui, Luis; Goldstein, Jonathan; Novella, Steven; Burns, Ted; Phillips, Lawrence; Claussen, Gwendolyn; Young, Angela; Bertorini, Tulio; Oh, Shin

    2010-03-01

    We performed a retrospective chart review on 53 muscle-specific kinase antibody (MuSK-Ab)-positive myasthenia gravis (MG) patients at nine university-based centers in the U.S. Of these, 66% were Caucasian, 85% were women, and age of onset was 9-79 years. Twenty-seven patients were nonresponsive to anticholinesterase therapy. Myasthenia Gravis Foundation of America improvement status was achieved in 53% patients on corticosteroids, 51% with plasma exchange, and in 20% on intravenous immunoglobulin (IVIG). Thymectomy was beneficial in 7/18 patients at 3 years. Long-term (> or =3 years) outcome was very favorable in 58% of patients who achieved remission and/or minimal manifestation status. Overall, 73% improved. There was one MG-related death. This survey reinforces several cardinal features of MuSK-Ab-positive MG, including prominent bulbar involvement and anticholinesterase nonresponsiveness. Facial or tongue atrophy was rare. Most patients respond favorably to immunotherapy. The best clinical response was to corticosteroids and plasma exchange, and the poorest response was to IVIG. Long-term outcome is favorable in about 60% of cases.

  8. Expanding the Clinical Application of Fractional Radiofrequency Treatment: Findings on Rhytides, Hyperpigmentation, Rosacea, and Acne Redness.

    PubMed

    Hongcharu, Wichai; Gold, Michael

    2015-11-01

    While radiofrequency has been used medically for decades to treat a wide variety of conditions, its use therapeutically to target conditions affecting the skin is relatively new. With the development of fractional radiofrequency, which allows for the heat energy to be delivered in a more targeted manner through the use of needles as electrodes, this technique is now the preferred medical treatment option for many skin conditions given the reduction in recovery time and fewer number of reported side effects. The current study examined the clinical effectiveness of SmartScan(TM) Nano-Fractional RFTM treatment. Participants included 12 healthy female volunteers who reported varying degrees of rhytides, hyperpigmentation, or acne redness. Participants each received one treatment of SmartScan Nano-Fractional RF. The areas receiving treatment were photographed in a standardized way, using high-resolution macrophotography, at baseline (prior to receiving the treatment) and one month after treatment. Baseline and post-treatment photographs were then visually compared for treatment effects and analyzed through software-assisted quantification of variation in pigmentation and skin texture. The results indicated that this SmartScan technique for Nano-Fractional RF is effective in improving skin texture, and pigmentation. PMID:26580880

  9. Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes.

    PubMed

    Edwards, Timothy J; Sherr, Elliott H; Barkovich, A James; Richards, Linda J

    2014-06-01

    The corpus callosum is the largest fibre tract in the brain, connecting the two cerebral hemispheres, and thereby facilitating the integration of motor and sensory information from the two sides of the body as well as influencing higher cognition associated with executive function, social interaction and language. Agenesis of the corpus callosum is a common brain malformation that can occur either in isolation or in association with congenital syndromes. Understanding the causes of this condition will help improve our knowledge of the critical brain developmental mechanisms required for wiring the brain and provide potential avenues for therapies for callosal agenesis or related neurodevelopmental disorders. Improved genetic studies combined with mouse models and neuroimaging have rapidly expanded the diverse collection of copy number variations and single gene mutations associated with callosal agenesis. At the same time, advances in our understanding of the developmental mechanisms involved in corpus callosum formation have provided insights into the possible causes of these disorders. This review provides the first comprehensive classification of the clinical and genetic features of syndromes associated with callosal agenesis, and provides a genetic and developmental framework for the interpretation of future research that will guide the next advances in the field.

  10. Modified Bi-Rads Scoring of Breast Imaging Findings Improves Clinical Judgment.

    PubMed

    Silberman, Howard; Sheth, Pulin A; Parisky, Yuri R; Hovanessian-Larsen, Linda J; Sheth, Sindu; Tripathy, Debasish

    2015-01-01

    In contrast with the reporting requirements currently mandated under the Federal Mammography Quality Standards Act (MQSA), we propose a modification of the Breast Imaging Reporting and Data System (Bi-Rads) in which a concluding assessment category is assigned, not to the examination as a whole, but to every potentially malignant abnormality observed. This modification improves communication between the radiologist and the attending clinician, thereby facilitating clinical judgment leading to appropriate management. In patients with breast cancer eligible for breast conserving therapy, application of this modification brings to attention the necessity for such patients to undergo pretreatment biopsies of all secondary, synchronous ipsilateral lesions scored Bi-Rads 3-5. All contralateral secondary lesions scored Bi-Rads 3-5 also require pretreatment biopsies. The application of this modification of the MSQA demonstrates the necessity to alter current recommendations ("short-interval follow-up") for secondary, synchronous Bi-Rads 3 ("probably benign") image-detected abnormalities prior to treatment of the index malignancy.

  11. The Correlation of Endoscopic Findings and Clinical Features in Korean Patients with Scrub Typhus: A Cohort Study.

    PubMed

    Lee, Jun; Kim, Dong-Min; Yun, Na Ra; Kim, Young Dae; Park, Chan Guk; Kim, Man Woo

    2016-01-01

    Scrub typhus is an infectious disease caused by Orientia tsutsugamushi-induced systemic vasculitis, but the involvement of the gastrointestinal tract and the endoscopic findings associated with scrub typhus are not well understood. We performed a prospective study and recommend performing esophagogastroduodenoscopy (EGD) for all possible scrub typhus patients, regardless of gastrointestinal symptoms. Gastrointestinal symptoms, endoscopic findings and clinical severity based on organ involvement and ICU admission were analyzed. Gastrointestinal symptoms occurred in up to 76.4% of scrub typhus patients. The major endoscopic findings were ulcers (43/127, 33.9%). Interestingly, 7.1% (9/127) of the patients presented with esophageal candidiasis. There was no correlation between the presence or absence of gastrointestinal symptoms and the endoscopic grade (P = 0.995). However, there was a positive correlation between the clinical severity and the endoscopic findings (P = 0.001). Sixty-three percent of the patients presented with erosion or ulcers on prospectively performed endoscopic evaluations, irrespective of gastrointestinal symptoms. Gastrointestinal symptoms did not reflect the need for endoscopy. Scrub typhus patients could have significant endoscopic abnormalities even in the absence of gastrointestinal symptoms. PMID:27195943

  12. Improving gene expression data interpretation by finding latent factors that co-regulate gene modules with clinical factors

    PubMed Central

    2011-01-01

    Background In the analysis of high-throughput data with a clinical outcome, researchers mostly focus on genes/proteins that show first-order relations with the clinical outcome. While this approach yields biomarkers and biological mechanisms that are easily interpretable, it may miss information that is important to the understanding of disease mechanism and/or treatment response. Here we test the hypothesis that unobserved factors can be mobilized by the living system to coordinate the response to the clinical factors. Results We developed a computational method named Guided Latent Factor Discovery (GLFD) to identify hidden factors that act in combination with the observed clinical factors to control gene modules. In simulation studies, the method recovered masked factors effectively. Using real microarray data, we demonstrate that the method identifies latent factors that are biologically relevant, and extracts more information than analyzing only the first-order response to the clinical outcome. Conclusions Finding latent factors using GLFD brings extra insight into the mechanisms of the disease/drug response. The R code of the method is available at http://userwww.service.emory.edu/~tyu8/GLFD. PMID:22087761

  13. Concordance between Clinical Practice and Published Evidence: Findings from The National Dental Practice-Based Research Network

    PubMed Central

    Norton, Wynne E.; Funkhouser, Ellen; Makhija, Sonia K.; Gordan, Valeria V.; Bader, James D.; Rindal, D. Brad; Pihlstrom, Daniel J.; Hilton, Thomas J.; Frantsve-Hawley, Julie; Gilbert, Gregg H.

    2013-01-01

    Background. Documenting the gap between what is occurring in clinical practice and what published research suggests is an important step toward improving care. This study quantified concordance between clinical practice and published evidence across preventive, diagnostic and treatment procedures among a sample of dentists in the National Dental Practice-Based Research Network. Methods. Network dentists completed one questionnaire about their demographic characteristics and another about how they treat patients across 12 scenarios/clinical practice behaviors. Responses to each clinical practice were coded as consistent (i.e., ‘1’) or inconsistent (i.e., ‘0’) with published evidence, summed, and divided by the number of all non-missing to create an overall ‘concordance’ score, calculated as the mean percent of responses that were consistent with published evidence. Results. Analyses were limited to participants in the United States (N = 591). Mean concordance at the practitioner level was 62% (SD = 18); procedure-specific concordance ranged from 8-100%. Affiliation with a large group practice, being a female practitioner, and receiving a dental degree before 1990 were independently associated with high concordance (≥75%). Conclusions. Dentists reported a medium-range concordance between practice and evidence. Clinical Implications. Efforts to bring research findings into routine practice are needed. PMID:24379327

  14. Occupational lead poisoning in the United States: clinical and biochemical findings related to blood lead levels.

    PubMed Central

    Baker, E L; Landrigan, P J; Barbour, A G; Cox, D H; Folland, D S; Ligo, R N; Throckmorton, J

    1979-01-01

    Dose-response relationships between blood lead levels and toxic effects have been evaluated in 160 lead workers in two smelters and a chemicals plant. Blood lead levels ranged from 0.77 to 13.51 mumol/litre (16-280 microgram/dl). Clinical evidence of toxic exposure was found in 70 workers (44%), including colic in 33, wrist or ankle extensor muscle weakness in 12, anaemia (Hgb less than 8.69 mumol/litre (Hb/4) or 14.0 gm/dl) in 27, elevated blood urea nitrogen (greater than or equal to 7.14 mmol/litre or 20 mg/dl) in 28, and possible encephalopathy in two. No toxicity was detected at blood lead levels below 1.93 mumol/litre (40 microgram/dl). However, 13% of workers with blood lead levels of 1.93 to 3.81 mumol/litre (40-79 microgram/dl) had extensor muscle weakness or gastrointestinal symptoms. Anaemia was found in 5% of workers with lead levels of 1.93-2.85 mumol/litre (40-59 microgram/dl), in 14% with levels of 2.90 to 3.81 mumol/litre (60-79 microgram/dl), and in 36% with levels greater than or equal to 3.86 mumol/litre (80 microgram/dl). Elevated blood urea nitrogen occurred in long-term lead workers. All but three workers with increased blood urea nitrogen had at least four years occupational lead exposure, and nine had received oral chelation; eight of this group had reduced creatinine clearance, and eight had decreased renal concentrating ability. These data support the establishment of a permissible biological limit for blood lead at a level between 1.93 and 2.90 mumol/litre (40-60 microgram/dl). PMID:508643

  15. A comprehensive review on experimental and clinical findings in intermediate syndrome caused by organophosphate poisoning

    SciTech Connect

    Abdollahi, Mohammad Karami-Mohajeri, Somayyeh

    2012-02-01

    Acute organophosphate (OP) intoxication is important because of its high morbidity and mortality and occurrence of muscular paralysis associated by inhibition of acetylcholinesterase (AChE) activity at the neuromuscular junction. Cholinergic crisis, intermediate syndrome (IMS), and OP-induced delayed neuropathy (OPIDN) are the evidences that can be observed in OP intoxication. The main cause of morbidity due to OP poisoning is IMS that occurs 24–96 h after poisoning. Mechanisms underlying the IMS are not fully known. Although the electrophysiological aspects of delayed neuropathy are best characterized, the IMS remain very little studied. The aim of this study was to revisit current knowledge related to OP and the IMS. For this purpose, a systematic review without date limitation was performed. A total of 599 relevant articles were found and reviewed. Data were categorized according to experimental and clinical studies. Occurrences of persistent AChE inhibition, electromyography changes, muscle cell injury, and oxidative stress are the most important pieces of evidence for involvement of IMS in OP toxicity. Delayed AChE inhibition, muscle necrosis, down regulation or desensitization of postsynaptic ACh receptors, failure of postsynaptic ACh release, and oxidative stress-related myopathy are involved in IMS. Toxicokinetic factors, such as a high lipid-solubility, duration of AChE inhibition and metabolite excretion, evolution of alterations on repetitive nerve stimulation (RNS), type and frequency of muscle lesions can estimate the probability of the IMS. Plasma AChE of less than 200 units is a predictor and the 30 Hz RNS decremental response could be a useful marker for the IMS.

  16. Clinical characteristics and endoscopic findings associated with Blastocystis hominis in healthy adults.

    PubMed

    Chen, Te-Li; Chan, Che-Chang; Chen, Hsin-Pai; Fung, Chang-Phone; Lin, Chih-Pei; Chan, Wan-Leong; Liu, Cheng-Yi

    2003-08-01

    Ninety-nine individuals with stools positive for Blastocystis hominis but negative for other parasites were identified from medical records of healthy adults who had received a physical examination at Taipei Veterans General Hospital from November 2000 to October 2002. The medical records of these 99 positive cases and 193 randomly selected controls, matched for age, sex, and date of examination, were retrospectively reviewed. The pathogenicity of B. hominis could not be demonstrated due to a lack of association with the development of gastrointestinal symptoms or pathologic findings on endoscopic examination. Multivariate analyses revealed that chronic hepatitis B infection was a predisposing condition to the acquisition of B. hominis (odd ratio = 2.848, 95% confidence interval = 1.299-6.242, P = 0.009), and concentration of urate was significantly lower in B. hominis-positive individuals (mean +/- SD = 361.64 +/- 87.44 versus 392.57 +/- 93.38 micromol/L; P = 0.009). Among the 64 individuals who underwent gastric biopsy, Helicobacter pylori was found more frequently in the individuals harboring B. hominis (19 of 26 versus 15 of 38; P = 0.017). PMID:13677378

  17. A longitudinal study of clinical and immunological findings in 52 patients with relapsing retinal vasculitis.

    PubMed Central

    Stanford, M R; Graham, E; Kasp, E; Sanders, M D; Dumonde, D C

    1988-01-01

    Fifty-two patients with retinal vasculitis--26 with idiopathic disease and 26 with associated systemic inflammatory disease--were followed up for periods ranging from six months to 12 years. The aim of the study was to determine the relationship between relapse of uveitis, visual outcome, and the occurrence of circulating immune complexes (CIC) and antiretinal antibodies. In a total of 69 relapses, CIC were increased in one-third of patients and antiretinal antibodies in one-half. In those 34 patients who expressed antiretinal antibodies 27 (79%) of the relapses were characterised by antiretinal antibodies in the absence of raised CIC levels (p less than 0.01). These findings support our previous hypothesis that CIC may have a protective role in autoimmune retinal vasculitis and that antiretinal autoimmunity is of pathogenetic importance in relapse. In individual patients the visual outcome was not related to the number of relapses or to the CIC-autoantibody pattern, suggesting the operation of additional features which merit identification. PMID:3390420

  18. Myopic Macular Retinoschisis in Teenagers: Clinical Characteristics and Spectral Domain Optical Coherence Tomography Findings

    PubMed Central

    Sun, Chuan-bin; You, Yong-sheng; Liu, Zhe; Zheng, Lin-yan; Chen, Pei-qing; Yao, Ke; Xue, An-quan

    2016-01-01

    To investigate the morphological characteristics of myopic macular retinoschisis (MRS) in teenagers with high myopia, six male (9 eyes) and 3 female (4 eyes) teenagers with typical MRS identified from chart review were evaluated. All cases underwent complete ophthalmic examinations including best corrected visual acuity (BCVA), indirect ophthalmoscopy, colour fundus photography, B-type ultrasonography, axial length measurement, and spectral-domain optical coherence tomography (SD-OCT). The average age was 17.8 ± 1.5 years, average refractive error was −17.04 ± 3.04D, average BCVA was 0.43 ± 0.61, and average axial length was 30.42 ± 1.71 mm. Myopic macular degenerative changes (MDC) by colour fundus photographs revealed Ohno-Matsui Category 1 in 4 eyes, and Category 2 in 9 eyes. Posterior staphyloma was found in 9 eyes. SD-OCT showed outer MRS in all 13 eyes, internal limiting membrane detachment in 7 eyes, vascular microfolds in 2 eyes, and inner MRS in 1 eye. No premacular structures such as macular epiretinal membrane or partially detached posterior hyaloids were found. Our results showed that MRS rarely occurred in highly myopic teenagers, and was not accompanied by premacular structures, severe MDC, or even obvious posterior staphyloma. This finding indicates that posterior scleral expansion is probably the main cause of MRS. PMID:27294332

  19. Myopic Macular Retinoschisis in Teenagers: Clinical Characteristics and Spectral Domain Optical Coherence Tomography Findings.

    PubMed

    Sun, Chuan-Bin; You, Yong-Sheng; Liu, Zhe; Zheng, Lin-Yan; Chen, Pei-Qing; Yao, Ke; Xue, An-Quan

    2016-01-01

    To investigate the morphological characteristics of myopic macular retinoschisis (MRS) in teenagers with high myopia, six male (9 eyes) and 3 female (4 eyes) teenagers with typical MRS identified from chart review were evaluated. All cases underwent complete ophthalmic examinations including best corrected visual acuity (BCVA), indirect ophthalmoscopy, colour fundus photography, B-type ultrasonography, axial length measurement, and spectral-domain optical coherence tomography (SD-OCT). The average age was 17.8 ± 1.5 years, average refractive error was -17.04 ± 3.04D, average BCVA was 0.43 ± 0.61, and average axial length was 30.42 ± 1.71 mm. Myopic macular degenerative changes (MDC) by colour fundus photographs revealed Ohno-Matsui Category 1 in 4 eyes, and Category 2 in 9 eyes. Posterior staphyloma was found in 9 eyes. SD-OCT showed outer MRS in all 13 eyes, internal limiting membrane detachment in 7 eyes, vascular microfolds in 2 eyes, and inner MRS in 1 eye. No premacular structures such as macular epiretinal membrane or partially detached posterior hyaloids were found. Our results showed that MRS rarely occurred in highly myopic teenagers, and was not accompanied by premacular structures, severe MDC, or even obvious posterior staphyloma. This finding indicates that posterior scleral expansion is probably the main cause of MRS. PMID:27294332

  20. Incorporating adverse event relatedness into dose-finding clinical trial designs.

    PubMed

    Darssan, Darsy; Thompson, Mery H; Pettitt, Anthony N

    2014-03-30

    Dose-finding designs estimate the dose level of a drug based on observed adverse events. Relatedness of the adverse event to the drug has been generally ignored in all proposed design methodologies. These designs assume that the adverse events observed during a trial are definitely related to the drug, which can lead to flawed dose-level estimation. We incorporate adverse event relatedness into the so-called continual reassessment method. Adverse events that have 'doubtful' or 'possible' relationships to the drug are modelled using a two-parameter logistic model with an additive probability mass. Adverse events 'probably' or 'definitely' related to the drug are modelled using a cumulative logistic model. To search for the maximum tolerated dose, we use the maximum estimated toxicity probability of these two adverse event relatedness categories. We conduct a simulation study that illustrates the characteristics of the design under various scenarios. This article demonstrates that adverse event relatedness is important for improved dose estimation. It opens up further research pathways into continual reassessment design methodologies. PMID:24122859

  1. Caveat Oncologist: Clinical Findings and Consequences of Distributing Counterfeit Erythropoietin in the United States

    PubMed Central

    Qureshi, Zaina P.; Norris, LeAnn; Sartor, Oliver; McKoy, June M.; Armstrong, John; Raisch, Dennis W.; Garg, Vishvas; Stafkey-Mailey, Dana; Bennett, Charles Lee

    2012-01-01

    Purpose: Counterfeit pharmaceuticals pose risks domestically. Because of their cost, cancer pharmaceuticals are vulnerable. We review findings from a domestic counterfeiting episode involving erythropoietin and outline anticounterfeiting recommendations for policy makers, patients, and health care professionals. Materials and Methods: Information was obtained on patients who received counterfeit erythropoietin, its distribution, and criminal investigations into counterfeiting networks. Interview sources included a physician, an attorney, employees of the Florida Department of Health and Human Services and the US Food and Drug Administration's (FDA) Office of Criminal Investigation, manufacturers, and wholesalers. Other sources included the book “Dangerous Doses,” LexisNexis (search terms “counterfeit” and “erythropoietin”) and the FDA database. Results: Counterfeit product consisted of 2,000 U vials with counterfeit labels denoting 40,000 U. The counterfeiters, in collaboration with a Miami pharmacy, purchased 110,000 erythropoietin 2,000 U vials and affixed counterfeit labels to each vial. Products were then sold via the pharmaceutical “gray market” to wholesalers, then pharmacy chains. Investigations by Florida government officials implicated 17 persons, all of whom were found guilty of trafficking in counterfeit pharmaceuticals. Despite the large size of the operation, the FDA received reports of only 12 patients who had received counterfeit erythropoietin and detailed information for only two individuals. A 17-year-old liver transplant recipient and a 61-year-old patient with breast cancer experienced loss of efficacy after receiving counterfeit erythropoietin. Conclusion: Wider use of FDA anticounterfeit initiatives, limiting pharmaceutical suppliers to reputable distributors, and educating providers and patients about signs of counterfeit drugs can improve the safety of cancer pharmaceuticals. PMID:23077434

  2. The Jordanian Mid Jordan Valley is a classic focus of Leishmania major as revealed by RFLP of 56 isolates and 173 ITS-1-PCR-positive clinical samples.

    PubMed

    Mosleh, Ibrahim M; Shönian, Gabriele; Geith, Eid; Al-Jawabreh, Amer; Natsheh, Lina

    2015-01-01

    The identity of the causative species of cutaneous leishmaniasis (CL) in the endemic Jordanian Mid Jordan Valley (JMidJV) was investigated using the polymerase chain reaction (PCR) amplifying the ribosomal internal transcribed spacer 1 (ITS-1) followed by the restriction fragment length polymorphism (RFLP). The geographical distribution of CL and the usefulness of ITS1 PCR in diagnosis of suspected CL in the study area were also addressed. Over the period from 2004 to 2009, 56 clinical isolates of Leishmania promastigotes and 185 lesion scrapings spotted on filter papers were obtained from suspected CL patients living in the JMidJV, which is divided into northern and southern districts. The majority (67.1%) of patients occurred in the populated eastern part of the southern district. Of the 185 suspected CL patients, 173 (93.5%) were confirmed positive using PCR. Leishmanial DNA was detected in 27 (90%) of 30 patients having clinically atypical lesions of CL and in 60 (92%) of 65 smear- and culture-negative cases having typical lesions of CL. The parasites in all of the 56 isolates and the 173 PCR-positive scrapings were classified as Leishmania major. In conclusion, PCR is useful in diagnosis of CL especially when smear and culture are negative. It is also recommended as a differential diagnostic tool of atypical lesions when CL is endemic. The identification of L. major as the causative species in such a considerable number of CL cases, representative of all mini foci of CL in the study area, shows that the JMidJV is a classic focus of L. major.

  3. Dissociative trance disorder: clinical and Rorschach findings in ten persons reporting demon possession and treated by exorcism.

    PubMed

    Ferracuti, S; Sacco, R; Lazzari, R

    1996-06-01

    Although dissociative trance disorders, especially possession disorder, are probably more common than is usually though, precise clinical data are lacking. Ten persons undergoing exorcisms for devil trance possession state were studied with the Dissociative Disorders Diagnostic Schedule and the Rorschach test. These persons had many traits in common with dissociative identity disorder patients. They were overwhelmed by paranormal experiences. Despite claiming possession by a demon, most of them managed to maintain normal social functioning. Rorschach findings showed that these persons had a complex personality organization: Some of them displayed a tendency to oversimplify stimulus perception whereas others seemed more committed to psychological complexity. Most had severe impairment of reality testing, and 6 of the participants had an extratensive coping stile. In this group of persons reporting demon possession, dissociative trance disorder seems to be a distinct clinical manifestation of a dissociative continuum, sharing some features with dissociative identity disorder.

  4. Age, Predisposing Diseases, and Ultrasonographic Findings in Determining Clinical Outcome of Acute Acalculous Inflammatory Gallbladder Diseases in Children

    PubMed Central

    2016-01-01

    We evaluated clinical factors such as age, gender, predisposing diseases and ultrasonographic findings that determine clinical outcome of acute acalculous inflammatory gallbladder diseases in children. The patients were divided into the four age groups. From March 2004 through February 2014, clinical data from 131 children diagnosed as acute acalculous inflammatory gallbladder disease by ultrasonography were retrospectively reviewed. Systemic infectious diseases were the most common etiology of acute inflammatory gallbladder disease in children and were identified in 50 patients (38.2%). Kawasaki disease was the most common predisposing disease (28 patients, 21.4%). The incidence was highest in infancy and lowest in adolescence. The age groups were associated with different predisposing diseases; noninfectious systemic disease was the most common etiology in infancy and early childhood, whereas systemic infectious disease was the most common in middle childhood and adolescence (P = 0.001). Gallbladder wall thickening was more commonly found in malignancy (100%) and systemic infection (94.0%) (P = 0.002), whereas gallbladder distension was more frequent in noninfectious systemic diseases (60%) (P = 0.000). Ascites seen on ultrasonography was associated with a worse clinical course compared with no ascites (77.9% vs. 37.7%, P = 0.030), and the duration of hospitalization was longer in patients with ascites (11.6 ± 10.7 vs. 8.0 ± 6.6 days, P = 0.020). In conclusion, consideration of age and predisposing disease in addition to ultrasonographic gallbladder findings in children suspected of acute acalculous inflammatory gallbladder disease might result in better outcomes. PMID:27550491

  5. Revisiting the Heidenhain Variant of Creutzfeldt-Jakob Disease: Evidence for Prion Type Variability Influencing Clinical Course and Laboratory Findings.

    PubMed

    Baiardi, Simone; Capellari, Sabina; Ladogana, Anna; Strumia, Silvia; Santangelo, Mario; Pocchiari, Maurizio; Parchi, Piero

    2015-01-01

    The Heidenhain variant defines a peculiar clinical presentation of sporadic Creutzfeldt-Jakob disease (sCJD) characterized by isolated visual disturbances at disease onset and reflecting the early targeting of prions to the occipital cortex. Molecular and histopathological typing, thus far performed in 23 cases, has linked the Heidenhain variant to the MM1 sCJD type. To contribute a comprehensive characterization of cases with the Heidenhain variant, we reviewed a series of 370 definite sCJD cases. Eighteen patients (4.9%) fulfilled the selection criteria. Fourteen of them belonging to sCJD types MM1 or MM1+2C had a short duration of isolated visual symptoms and overall clinical disease, a high prevalence of periodic sharp-wave complexes in EEG, and a marked increase of cerebrospinal fluid proteins t-tau and 14-3-3 levels. In contrast, three cases of the MM 2C or MM 2+1C types showed a longer duration of isolated visual symptoms and overall clinical disease, non-specific EEG findings, and cerebrospinal fluid concentration below threshold for the diagnosis of "probable" CJD of both 14-3-3 and t-tau. However, a brain DWI-MRI disclosed an occipital cortical hyperintensity in the majority of examined cases of both groups. While confirming the strong linkage with the methionine genotype at the polymorphic codon 129 of the prion protein gene, our results definitely establish that the Heidenhain variant can also be associated with the MM 2C sCJD type in addition to the more common MM1 type. Likewise, our results highlight the significant differences in clinical evolution and laboratory findings between cases according to the dominant PrPSc type (type 1 versus type 2). PMID:26682685

  6. A population study on differences in the determinants of a specific shoulder disorder versus nonspecific shoulder pain without clinical findings.

    PubMed

    Miranda, Helena; Viikari-Juntura, Eira; Heistaro, Sami; Heliövaara, Markku; Riihimäki, Hilkka

    2005-05-01

    Musculoskeletal pain frequently occurs without particular clinical findings. Pain per se may be determined by factors other than those indicating a clinical disorder. The authors examined the prevalence and determinants of clinically diagnosed chronic rotator cuff tendinitis and self-reported nonspecific shoulder pain. The Health 2000 survey, carried out in 2000-2001 in Finland, included a nationally representative sample of 8,028 persons aged 30 years or more. In the present study, analyses were restricted to subjects aged 30-64 years who had held a job during the preceding 12 months. The prevalences of chronic rotator cuff tendinitis and nonspecific shoulder pain were 2.0% (78 of 3,909 subjects) and 12% (410 of 3,525 subjects), respectively. Nonspecific pain was related to burnout (adjusted odds ratio (OR) = 1.7, 95% confidence interval (CI): 1.4, 2.2), depression (among women, the adjusted OR was 1.8 (95% CI: 1.1, 2.9) for mild depression and 3.0 (95% CI: 1.6, 5.6) for severe depression), and inability to express one's feelings (alexithymia) (adjusted OR = 1.6, 95% CI: 1.1, 2.5). However, these factors were not associated with chronic rotator cuff tendinitis, determinants of which were work-related cumulative loading on the shoulder, age, and insulin-dependent diabetes mellitus (adjusted OR = 8.8, 95% CI: 1.9, 40.3). The determinants of specific musculoskeletal disorders differ from those of subjective complaints without clinical findings. Such complaints may be indicators of adverse psychological and psychosocial factors rather than the presence of an underlying pathologic condition.

  7. Revisiting the Heidenhain Variant of Creutzfeldt-Jakob Disease: Evidence for Prion Type Variability Influencing Clinical Course and Laboratory Findings

    PubMed Central

    Baiardi, Simone; Capellari, Sabina; Ladogana, Anna; Strumia, Silvia; Santangelo, Mario; Pocchiari, Maurizio; Parchi, Piero

    2015-01-01

    The Heidenhain variant defines a peculiar clinical presentation of sporadic Creutzfeldt-Jakob disease (sCJD) characterized by isolated visual disturbances at disease onset and reflecting the early targeting of prions to the occipital cortex. Molecular and histopathological typing, thus far performed in 23 cases, has linked the Heidenhain variant to the MM1 sCJD type. To contribute a comprehensive characterization of cases with the Heidenhain variant, we reviewed a series of 370 definite sCJD cases. Eighteen patients (4.9%) fulfilled the selection criteria. Fourteen of them belonging to sCJD types MM1 or MM1+2C had a short duration of isolated visual symptoms and overall clinical disease, a high prevalence of periodic sharp-wave complexes in EEG, and a marked increase of cerebrospinal fluid proteins t-tau and 14-3-3 levels. In contrast, three cases of the MM 2C or MM 2+1C types showed a longer duration of isolated visual symptoms and overall clinical disease, non-specific EEG findings, and cerebrospinal fluid concentration below threshold for the diagnosis of “probable” CJD of both 14-3-3 and t-tau. However, a brain DWI-MRI disclosed an occipital cortical hyperintensity in the majority of examined cases of both groups. While confirming the strong linkage with the methionine genotype at the polymorphic codon 129 of the prion protein gene, our results definitely establish that the Heidenhain variant can also be associated with the MM 2C sCJD type in addition to the more common MM1 type. Likewise, our results highlight the significant differences in clinical evolution and laboratory findings between cases according to the dominant PrPSc type (type 1 versus type 2). PMID:26682685

  8. Age, Predisposing Diseases, and Ultrasonographic Findings in Determining Clinical Outcome of Acute Acalculous Inflammatory Gallbladder Diseases in Children.

    PubMed

    Yi, Dae Yong; Chang, Eun Jae; Kim, Ji Young; Lee, Eun Hye; Yang, Hye Ran

    2016-10-01

    We evaluated clinical factors such as age, gender, predisposing diseases and ultrasonographic findings that determine clinical outcome of acute acalculous inflammatory gallbladder diseases in children. The patients were divided into the four age groups. From March 2004 through February 2014, clinical data from 131 children diagnosed as acute acalculous inflammatory gallbladder disease by ultrasonography were retrospectively reviewed. Systemic infectious diseases were the most common etiology of acute inflammatory gallbladder disease in children and were identified in 50 patients (38.2%). Kawasaki disease was the most common predisposing disease (28 patients, 21.4%). The incidence was highest in infancy and lowest in adolescence. The age groups were associated with different predisposing diseases; noninfectious systemic disease was the most common etiology in infancy and early childhood, whereas systemic infectious disease was the most common in middle childhood and adolescence (P = 0.001). Gallbladder wall thickening was more commonly found in malignancy (100%) and systemic infection (94.0%) (P = 0.002), whereas gallbladder distension was more frequent in noninfectious systemic diseases (60%) (P = 0.000). Ascites seen on ultrasonography was associated with a worse clinical course compared with no ascites (77.9% vs. 37.7%, P = 0.030), and the duration of hospitalization was longer in patients with ascites (11.6 ± 10.7 vs. 8.0 ± 6.6 days, P = 0.020). In conclusion, consideration of age and predisposing disease in addition to ultrasonographic gallbladder findings in children suspected of acute acalculous inflammatory gallbladder disease might result in better outcomes. PMID:27550491

  9. [Clinical studies in working populations: value and significance of anamnestic findings, clinical tests and instrumental tests for the diagnosis of musculoskeletal disorders of the upper extremities].

    PubMed

    De Marco, F; Menoni, O; Ricci, M G; Bonaiuti, D; Colombini, D; Occhipinti, E

    1996-01-01

    The authors discuss the value and significance of symptoms in WMSDs, considering that the anamnestic threshold proposed in epidemiological investigations cannot be used as clinical and diagnosing criteria. Some useful clinical procedures are suggested for cases where there is a suspicion of musculo-skeletal disorders of the cervical spine and upper limbs, bearing in mind that they are to be applied within the framework of health surveillance programmes undertaken by health care practitioners who are not specialists in orthopaedics, physiatrics or neurology. The recommendations for instrumental tests and specialist referrals are also discussed for the various disorders. The authors also provide flow charts for the diagnostic procedures pertaining to WMSDs. The Appendix shows a sample patient chart illustrating the proposed procedures; it also permits the findings to be encoded so that they can be stored in a dedicated database. The codes for diagnosing WMSDs are also reported for the same epidemiological purposes.

  10. Comparative clinical implications of admission electrocardiographic findings for patients with non-ST-segment elevation myocardial infarction.

    PubMed

    Jin, Eun-Sun; Park, Chang-Bum; Kim, Dong-Hee; Hwang, Hui-Jeong; Cho, Jin-Man; Sohn, Il Suk; Kim, Chong-Jin

    2016-09-01

    Early risk stratification is crucial for appropriate management using invasive strategies in non-ST elevation myocardial infarction (NSTEMI), and electrocardiography (ECG) has been widely used for risk stratification. However, ECG findings in NSTEMI vary, and there is a need to define the clinical characteristics and outcomes according to ECG.We analyzed the admission ECGs of 345 NSTEMI patients who underwent coronary angiography from 2006 to 2013. Demographics, procedural characteristics, and clinical outcomes were analyzed.The ST-segment depression, T-wave inversion, and no ECG change groups included 114, 90, and 141 patients, respectively. The ST-segment depression group trended toward older, nonsmoking, and female, with a lower body mass index (BMI) and a higher incidence of comorbidities, than the no ECG change group. The ST-segment depression group also had a higher Killip class, a lower left ventricular ejection fraction, a higher regional wall motion score index (RWMSI), and 3-vessel coronary artery disease angiographically, than the no ECG change group. Patients with T-wave inversion trended toward older, female, lower BMI, less smoking, lower creatine kinase MB, and more left anterior descending (LAD) artery involvement, than the no ECG change group. In clinical outcomes, the ST-segment depression group had a higher mortality rate at 30 days and 12 months after the index procedure than the no ECG change group, whereas the T-wave inversion group showed similar clinical outcomes.Patients with ST-segment depression have a greater burden of comorbidities with risk factors and worse clinical outcomes, whereas patients with T-wave inversion have an intermediate number of risk factors but similar outcomes, compared with the no ECG change group. Further study is necessary to evaluate the prognostic impact of the baseline ECG on admission. PMID:27631250

  11. Clinical Features, Image Findings, and Prognosis of Inflammatory Pseudotumor of the Liver: A Multicenter Experience of 45 Cases

    PubMed Central

    Park, Jun Young; Lim, Young-Suk; Park, Jang Won; Kim, Seung Up; Min, Yang Won; Gwak, Geum-Youn; Paik, Yong-Han; Lee, Joon Hyoek; Koh, Kwang Cheol; Paik, Seung Woon; Yoo, Byung Chul

    2014-01-01

    Background/Aims Inflammatory pseudotumor (IPT) of the liver is a rare disease characterized by chronic infiltration of inflammatory cells. However, the clinical characteristics and outcomes of IPT remain uncertain. Methods Clinical features, image findings, and outcomes of 55 patients with histologically proven IPT were evaluated. Results They consisted of 26 men and 19 women with median age of 65 years. Serum carcinoembryonal antigen and carbohydrate antigen 19-9 levels were normal in 42 patients (93.3%). Enhanced CT scans indicated poorly defined peripheral enhancement (82.5%) at the arterial phase and poorly defined hyperattenuating lesions with internal hypoattenuating areas at the equilibrium phase (77.0%). Gadolinium-enhancement MRI revealed poorly defined peripheral rim-like enhancement (77.8%). Ten patients underwent surgical resection and 35 were treated conservatively with or without antibiotics. No recurrence was noted after surgical resection during follow-up (1 to 48 months). In all patients who received conservative treatment, complete resolution or size reduction was noted during follow-up (1 to 192 months). Conclusions CT and MRI provide clues to the diagnosis of IPT in patients with liver masses and normal tumor markers. However, due to the lack of pathognomonic findings, the clinician's suspicion and histological diagnosis are necessary to make an accurate diagnosis of IPT. PMID:24516702

  12. Demographics features, clinical findings and functional status in a group of subjects with cervical myofascial pain syndrome.

    PubMed

    Sahin, Nilay; Karataş, Omer; Ozkaya, Murat; Cakmak, Ayşegül; Berker, Ender

    2008-07-01

    Subjects with myofascial pain of muscles of the neck region may present with various clinical symptoms. The aim of this study was to explore the demographics features, clinical findings and functional status in a group of patients presenting with myofascial pain of the cervical muscles. 94 cervical myofascial pain syndrome patients were recruited from the out-patient clinic. Evaluated of patient short form health survey (SF-36), pain, depression, patient demographics and physical examinations. Outcome measures; SF-36 Health Survey, visual analog scale, Beck Depression Inventory, history, physical examination. A total of 82 patients with a diagnosis of cervical myofascial syndrome were included in the study. All patients were in the young age group 37.4+/-9, and 87.8% were females. 53.1% had trigger points in the trapezius muscle with high percentage of autonomic phenomena like skin reddening, lacrimation, tinnitus and vertigo. 58.5% of the series had suffered from former cervical trauma and 40.2% also had fibromyalgia syndrome and 18.5% had benign Joint hypermobility syndrome. Younger female patients presenting with autonomic phenomena and early onset cervical injury should be examined for cervical myofascial pain syndrome and also for fibromyalgia syndrome since this study demonstrated a high percentage of fibromyalgia syndrome in these patients.

  13. AMERICAN ASSOCIATION OF CLINICAL ENDOCRINOLOGISTS AND AMERICAN COLLEGE OF ENDOCRINOLOGY POSITION STATEMENT ON THYROID DYSFUNCTION CASE FINDING.

    PubMed

    Hennessey, James V; Garber, Jeffrey R; Woeber, Kenneth A; Cobin, Rhoda; Klein, Irwin

    2016-02-01

    Hypothyroidism and hyperthyroidism can be readily diagnosed and can be treated in a safe, cost-effective manner. Professional organizations have given guidance on how and when to employ thyroid-stimulating hormone testing for the detection of thyroid dysfunction. Most recently, the United States Preventive Services Task Force did not endorse screening for thyroid dysfunction based on a lack of proven benefit and potential harm of treating those with thyroid dysfunction, which is mostly subclinical disease. The American Association of Clinical Endocrinologists (AACE) is concerned that this may discourage physicians from testing for thyroid dysfunction when clinically appropriate. Given the lack of specificity of thyroid-associated symptoms, the appropriate diagnosis of thyroid disease requires biochemical confirmation. The Thyroid Scientific Committee of the AACE has produced this White Paper to highlight the important difference between screening and case-based testing in the practice of clinical medicine. We recommend that thyroid dysfunction should be frequently considered as a potential etiology for many of the nonspecific complaints that physicians face daily. The application and success of safe and effective interventions are dependent on an accurate diagnosis. We, therefore, advocate for an aggressive case-finding approach, based on identifying those persons most likely to have thyroid disease that will benefit from its treatment. PMID:26848631

  14. Dynamic MR imaging and stress testing in glenohumeral instability: comparison with normal shoulders and clinical/surgical findings.

    PubMed

    Hodge, D K; Beaulieu, C F; Thabit, G H; Gold, G E; Bergman, A G; Butts, R K; Dillingham, M F; Herfkens, R J

    2001-05-01

    Our objectives were to test the hypotheses that: 1) during shoulder motion, glenohumeral alignment differs between asymptomatic shoulders and those with symptomatic instability; 2) during magnetic resonance (MR)-monitored physical exam or stress testing, glenohumeral alignment differs between asymptomatic shoulders and those with instability; and 3) glenohumeral translation during MR stress testing correlates with findings of shoulder instability by clinical exam and exam under anesthesia (EUA). Using an open-configuration 0.5 T MR imaging (MRI) system, we studied symptomatic shoulders in 11 subjects and compared them to their contralateral asymptomatic shoulders. Each shoulder was studied during abduction/adduction and internal/external rotation to determine the humeral head position on the glenoid. An examiner also performed the MR stress test on each shoulder by applying manual force on the humeral head during imaging. All shoulders were assigned an instability grade from the MR stress test, and this grade was correlated with: 1) clinical exam grade assigned during preoperative assessment by an orthopedic surgeon and 2) intraoperative instability grade by EUA immediately preceding arthroscopy. With dynamic abduction and internal/external rotation, the humeral head remained centered on the glenoid in 9 of 11 shoulders, but in two subjects there were dramatic demonstrations of subluxation. With stress testing, a trend toward more joint laxity was demonstrated in symptomatic than in asymptomatic joints (P = 0.11). MR grading of instability correlated directly with clinical grading in six cases and underestimated the degree of instability relative to clinical exam in the other cases. MR instability grading systematically underestimated instability compared with EUA in 7 of the 10 cases that underwent surgical repair. We concluded that dynamic MR evaluation of glenohumeral alignment did not demonstrate abnormalities in symptomatic shoulders in 8 of 10 patients

  15. The importance of oral-clinical findings for the correct diagnosis of Ellis-van Creveld syndrome.

    PubMed

    Pedro, Rafael Lima; Andrade, Lucia Helena Raymundo; Maia, Lucianne Cople

    2011-01-01

    Ellis-van Creveld syndrome (EVC), also known as chondroectodermal dysplasia, is a rare autosomal recessive disorder. It is characterized by a variable spectrum of clinical findings, and the most common tetrad is chondrodystrophy, polydactyly, ectodermal dysplasia, and cardiac defects. Among the oral findings, number anomalies, peg-shaped teeth, and alterations in soft tissues are noteworthy. The aim of this paper is to report a case in which the diagnosis of EVC was possible only with the oral findings of a dentist and to relate the dental treatment performed. A 2-year-old girl was brought for dental care due to a lack of teeth. Her condition was initially diagnosed as thanatophoric dysplasia by her pediatrician. After evaluation of the oral manifestations, the dentist referred her to a geneticist, with the suggestion of EVC. The dental report, together with the systemic manifestations, allowed the geneticist to confirm the EVC diagnosis. The necessary dental procedures were performed, and the patient, now age 5, is still monitored by a multidisciplinary team.

  16. What classicality? Decoherence and Bohr's classical concepts

    NASA Astrophysics Data System (ADS)

    Schlosshauer, Maximilian; Camilleri, Kristian

    2011-03-01

    Niels Bohr famously insisted on the indispensability of what he termed "classical concepts." In the context of the decoherence program, on the other hand, it has become fashionable to talk about the "dynamical emergence of classicality" from the quantum formalism alone. Does this mean that decoherence challenges Bohr's dictum—for example, that classical concepts do not need to be assumed but can be derived? In this paper we'll try to shed some light down the murky waters where formalism and philosophy cohabitate. To begin, we'll clarify the notion of classicality in the decoherence description. We'll then discuss Bohr's and Heisenberg's take on the quantum—classical problem and reflect on different meanings of the terms "classicality" and "classical concepts" in the writings of Bohr and his followers. This analysis will allow us to put forward some tentative suggestions for how we may better understand the relation between decoherence-induced classicality and Bohr's classical concepts.

  17. Correlation of clinical and angiographic findings in brain ischemia with regional cerebral blood flow measured by the xenon inhalation technique

    SciTech Connect

    Awad, I.; Little, J.R.; Furlan, A.J.; Weinstein, M.

    1982-07-01

    Eighty-eight patients with brain ischemia underwent cerebral angiography and measurement of regional cerebral blood flow (rCBF) after /sup 133/Xe inhalation. A fast compartment flow rate and an initial slope index were computed for each detector and for each hemisphere. The clinical presentation, angiographic findings, and rCBF results were then examined for significant correlations. Patients with hemispheric infarction most frequently showed bilateral diffusely decreased rCBF. In patients with transient ischemic attacks, no specific pattern emerged. Patients with unilateral internal carotid artery occlusion frequently hd bilateral diffusely decreased rCBF. Patients with severe internal carotid artery stenosis were more likely to show decreased rCBF than were patients with mild or moderate stenosis. The initial slope index seemed to be a more sensitive indicator of brain ischemia than the fast compartment flow rate. The possible pathophysiological significance and relationship to patient management of the various rCBF patterns are discussed.

  18. Human granulocytic anaplasmosis in Austria: epidemiological, clinical, and laboratory findings in five consecutive patients from Tyrol, Austria.

    PubMed

    Walder, Gernot; Fuchs, Dietmar; Sarcletti, Mario; Berek, Klaus; Falkensammer, Barbara; Huber, Klaus; Petrovec, Miro; Dierich, Manfred P; Würzner, Reinhard

    2006-05-01

    We report five consecutive cases of Anaplasma (A.) phagocytophilum infection (the causative agent of human granulocytic anaplasmosis (HGA)) from western Austria. All infections were acquired between June and August in 2003 and 2004 in the Inn valley (Tyrol, Austria). Four patients required hospitalisation, one patient was treated as an outpatient. During the acute stage of illness, laboratory findings included thrombocytopenia (5/5), elevated C-reactive protein (5/5), elevated neopterin (5/5), elevated lactate dehydrogenase (4/5), and elevation of liver enzymes (4/5). Leukopenia (3/5) and elevated procalcitonin (2/5) were less frequently observed. All patients were treated with tetracyclines, which led to prompt improvement of the clinical conditions. Anti-platelet antibodies were observed in one of four patients, but remained unchanged after complete covalescence.

  19. Posterosuperior glenoid internal impingement of the shoulder in the overhead athlete: pathogenesis, clinical features and MR imaging findings.

    PubMed

    Fessa, Chris Kon; Peduto, Anthony; Linklater, James; Tirman, Phillip

    2015-04-01

    Posterosuperior glenoid internal impingement (PGII) is an impingement syndrome of the shoulder that is most commonly seen in the throwing or overhead athlete. The supraspinatus can be normally compressed or impinged between the greater tuberosity and the posterosuperior labrum in the abduction and external rotation position. However, repetitive throwing and biomechanical abnormalities may lead to the intensification of this contact and to the clinical and pathological picture of PGII. The injured athlete usually complains of poor throwing performance and pain located in the posterosuperior aspect of the shoulder. Two main theories regarding the aetiology of PGII have been postulated with differing initial mechanisms. The MRI features of PGII have been described and include supraspinatus and anterior infraspinatus partial undersurface tears, bony changes at the humeral head and labral pathology, including a variation of the type II superior labrum from anterior to posterior lesion. This pictorial essay aims to present cases illustrating the pathophysiology, clinical features and recently described MRI findings, and discuss some of the MR protocol considerations. PMID:25586665

  20. Giant Serous Cystadenoma of the Pancreas (⩾10 cm): The Clinical Features and CT Findings

    PubMed Central

    Zhou, Jun; Zeng, Yu-Rong; Lin, Xiao-Feng; Min, Jun

    2016-01-01

    Purpose. To report the clinical features and CT manifestations of giant pancreatic serous cystadenoma (≥10 cm). Methods. We retrospectively reviewed the clinical features and CT findings of 6 cases of this entity. Results. All 6 patients were symptomatic. The tumors were 10.2 cm–16.5 cm (median value, 13.0 cm). CT imaging revealed that all 6 cases showed microcystic appearances (n = 5) or mixed microcystic and macrocystic appearances (n = 1). Five patients with tumors at the distal end of the pancreas received distal pancreatectomy. Among these 5 patients, 2 patients underwent partial transverse colon resection or omentum resection due to close adhesion. One patient whose tumor was located in the pancreatic head underwent pancreaticoduodenectomy; however, due to encasement of the portal and superior mesenteric veins, the tumor was incompletely resected. One patient had abundant draining veins on the tumor surface and suffered large blood loss (700 mL). After 6–49 months of follow-up the 6 patients showed no tumor recurrence or signs of malignant transformation. Conclusions. Giant pancreatic serous cystadenoma necessitates surgical resection due to large size, symptoms, uncertain diagnosis, and adjacent organ compression. The relationship between the tumors and the neighboring organs needs to be carefully assessed before operation on CT image.

  1. Giant Serous Cystadenoma of the Pancreas (⩾10 cm): The Clinical Features and CT Findings

    PubMed Central

    Zhou, Jun; Zeng, Yu-Rong; Lin, Xiao-Feng; Min, Jun

    2016-01-01

    Purpose. To report the clinical features and CT manifestations of giant pancreatic serous cystadenoma (≥10 cm). Methods. We retrospectively reviewed the clinical features and CT findings of 6 cases of this entity. Results. All 6 patients were symptomatic. The tumors were 10.2 cm–16.5 cm (median value, 13.0 cm). CT imaging revealed that all 6 cases showed microcystic appearances (n = 5) or mixed microcystic and macrocystic appearances (n = 1). Five patients with tumors at the distal end of the pancreas received distal pancreatectomy. Among these 5 patients, 2 patients underwent partial transverse colon resection or omentum resection due to close adhesion. One patient whose tumor was located in the pancreatic head underwent pancreaticoduodenectomy; however, due to encasement of the portal and superior mesenteric veins, the tumor was incompletely resected. One patient had abundant draining veins on the tumor surface and suffered large blood loss (700 mL). After 6–49 months of follow-up the 6 patients showed no tumor recurrence or signs of malignant transformation. Conclusions. Giant pancreatic serous cystadenoma necessitates surgical resection due to large size, symptoms, uncertain diagnosis, and adjacent organ compression. The relationship between the tumors and the neighboring organs needs to be carefully assessed before operation on CT image. PMID:27610132

  2. Giant Serous Cystadenoma of the Pancreas (⩾10 cm): The Clinical Features and CT Findings.

    PubMed

    Liu, Qing-Yu; Zhou, Jun; Zeng, Yu-Rong; Lin, Xiao-Feng; Min, Jun

    2016-01-01

    Purpose. To report the clinical features and CT manifestations of giant pancreatic serous cystadenoma (≥10 cm). Methods. We retrospectively reviewed the clinical features and CT findings of 6 cases of this entity. Results. All 6 patients were symptomatic. The tumors were 10.2 cm-16.5 cm (median value, 13.0 cm). CT imaging revealed that all 6 cases showed microcystic appearances (n = 5) or mixed microcystic and macrocystic appearances (n = 1). Five patients with tumors at the distal end of the pancreas received distal pancreatectomy. Among these 5 patients, 2 patients underwent partial transverse colon resection or omentum resection due to close adhesion. One patient whose tumor was located in the pancreatic head underwent pancreaticoduodenectomy; however, due to encasement of the portal and superior mesenteric veins, the tumor was incompletely resected. One patient had abundant draining veins on the tumor surface and suffered large blood loss (700 mL). After 6-49 months of follow-up the 6 patients showed no tumor recurrence or signs of malignant transformation. Conclusions. Giant pancreatic serous cystadenoma necessitates surgical resection due to large size, symptoms, uncertain diagnosis, and adjacent organ compression. The relationship between the tumors and the neighboring organs needs to be carefully assessed before operation on CT image. PMID:27610132

  3. Diagnostic accuracy of pre-operative imaging findings in presumed clinical T1a renal cell carcinomas

    PubMed Central

    NAKASHIMA, KAZUFUMI; KITAGAWA, YASUHIDE; IZUMI, KOUJI; MIZOKAMI, ATSUSHI; GABATA, TOSHIFUMI; NAMIKI, MIKIO

    2016-01-01

    Despite the development of recent imaging modalities, certain pathological misdiagnoses remain for surgical specimens of presumed small renal cell carcinomas (RCCs). In the present study, a retrospective analysis of benign pathological lesions diagnosed as small RCC prior to surgery was performed. In total, the cases of 196 sporadic renal tumors that was surgically treated as clinical T1a RCCs were reviewed, and the accuracy of the pathological diagnoses was calculated. The pre-operative findings for benign pathological lesions was investigated, and the lesions were observed in 13 (6.63%) of the 196 tumors. Pre-operative computed tomography images were obtained in all cases, and magnetic resonance images were available in 10 cases. The diagnostic accuracy of imaging modalities was significantly lower in the tumors with a diameter of ≤20 mm. In all cases, the possible pathological diagnosis of RCC could not be excluded even by retrospective imaging analysis. Several benign pathological lesions were found in small renal masses presumed to be clinical T1a RCC. In conclusion, there may be limitations to the pre-operative imaging for certain types of small renal mass. PMID:27123087

  4. Generalized odontodysplasia in a 5-year-old patient with Hallermann-Streiff syndrome: clinical aspects, cone beam computed tomography findings, and conservative clinical approach.

    PubMed

    Damasceno, Juliana Ximenes; Couto, José Luciano Pimenta; Alves, Karla Shangela da Silva; Chaves, Cauby Maia; Costa, Fábio Wildson Gurgel; Pimenta, Alynne de Menezes Vieira; Fonteles, Cristiane Sá Roriz

    2014-08-01

    This article aims to report the main clinical aspects, cone beam computed tomography (CBCT) findings, and conservative oral rehabilitation in a child born from a consanguineous marriage who presented with Hallermann-Streiff syndrome (HSS) and generalized odontodysplasia. A 5-year-old girl presented with a diagnosis of HSS for oral evaluation. Radiographically, all teeth showed wide pulp chambers and roots with thin dentinal walls and open apices, resembling ghost teeth and indicating a diagnosis of odontodysplasia. Oral rehabilitation consisted of partial dentures that were regularly adjusted to conform the device with the pattern of growth and development of the child. CBCT scan provided great insight into HSS, allowing a detailed view of the morphologic aspects and associated trabecular bone pattern. Treatment of these 2 rare conditions in young children must consider the stage of growth and development. Although extremely rare in HSS, odontodysplasia should be investigated and conservatively managed in young children.

  5. New onset pancytopenia in adults: a review of underlying pathologies and their associated clinical and laboratory findings.

    PubMed

    Devitt, Katherine A; Lunde, John H; Lewis, Michael R

    2014-05-01

    Abstract Pancytopenia is regularly encountered in hematology practice, yet there exist few published assessments of the frequencies of various etiologies, and these frequencies exhibit substantial geographic variation. We reviewed bone marrow specimens from pancytopenic adults to determine the most common etiologies and to identify associations with clinical and laboratory findings. Of 132 patients with no history of hematolymphoid neoplasia, no prior bone marrow study for pancytopenia and no recent cytotoxic chemotherapy, 64% had clonal hematopoietic disorders. Most common were myeloid processes: 26% of patients had acute myeloid leukemia, and 17% had myelodysplasia. Less common were lymphoid neoplasms such as non-Hodgkin lymphoma (6%), hairy cell leukemia (5%) and precursor B acute lymphoblastic leukemia (4%). Among non-clonal cases, the most common specific diagnoses were aplastic anemia (5%), megaloblastic anemia (2%) and human immunodeficiency virus (HIV)-related changes (2%). Clonal diagnoses were associated with more severe cytopenias than non-clonal cases. Circulating nucleated erythroid precursors, immature granulocytes and blasts were seen more frequently in clonal cases. Nearly two-thirds of cases of new onset pancytopenia in adults in our North American practice setting have a clonal etiology, with myeloid neoplasms being most common. Blood counts and peripheral smear findings can provide insights into the likelihood of a clonal etiology. PMID:23829306

  6. Clinical findings and white matter abnormalities seen on diffusion tensor imaging in adolescents with very low birth weight.

    PubMed

    Skranes, J; Vangberg, T R; Kulseng, S; Indredavik, M S; Evensen, K A I; Martinussen, M; Dale, A M; Haraldseth, O; Brubakk, A-M

    2007-03-01

    Very low birth weight (VLBW) children are at high risk of perinatal white matter injury, which, when subtle, may not be seen using conventional magnetic resonance imaging. The relationship between clinical findings and fractional anisotropy (FA) measurements in white matter of adolescents born prematurely with VLBW was studied in 34 subjects (age = 15 years, birth weight clinically and with diffusion tensor imaging (DTI). Perceptual and cognitive functions were evaluated by visual motor integration (VMI) with supplementary tests and sub-tests from WISC-III, motor function by movement ABC and Grooved Pegboard test and psychiatric symptoms by the schedule for affective disorders and schizophrenia for school-age children semistructured interview, the Autism Spectrum Screening Questionnaire and attention deficit hyperactivity disorder (ADHD) rating scale IV. Overall functioning was scored on the children's global assessment scale. DTI scans were performed for calculation of FA maps and areas of significant differences in mean FA values between subjects and controls were compared with their clinical data. The VLBW children had reduced FA values in the internal and external capsule, corpus callosum and superior, middle superior and inferior fasciculus. Within this group of children, visual motor and visual perceptual deficits were associated with low FA values in the external capsule, posterior part of the internal capsule and in the inferior fasciculus. Children with low IQ had low FA values in the external capsule and inferior and middle superior fasciculus. Fine motor impairment was related to low FA values in the internal and external capsule and superior fasciculus. Eight VLBW children with inattention symptoms or a diagnosis of ADHD had significantly lower FA values in several areas. Mild social deficits correlated with reduced FA values in the external capsule and superior fasciculus. We

  7. Clinical findings and white matter abnormalities seen on diffusion tensor imaging in adolescents with very low birth weight.

    PubMed

    Skranes, J; Vangberg, T R; Kulseng, S; Indredavik, M S; Evensen, K A I; Martinussen, M; Dale, A M; Haraldseth, O; Brubakk, A-M

    2007-03-01

    Very low birth weight (VLBW) children are at high risk of perinatal white matter injury, which, when subtle, may not be seen using conventional magnetic resonance imaging. The relationship between clinical findings and fractional anisotropy (FA) measurements in white matter of adolescents born prematurely with VLBW was studied in 34 subjects (age = 15 years, birth weight clinically and with diffusion tensor imaging (DTI). Perceptual and cognitive functions were evaluated by visual motor integration (VMI) with supplementary tests and sub-tests from WISC-III, motor function by movement ABC and Grooved Pegboard test and psychiatric symptoms by the schedule for affective disorders and schizophrenia for school-age children semistructured interview, the Autism Spectrum Screening Questionnaire and attention deficit hyperactivity disorder (ADHD) rating scale IV. Overall functioning was scored on the children's global assessment scale. DTI scans were performed for calculation of FA maps and areas of significant differences in mean FA values between subjects and controls were compared with their clinical data. The VLBW children had reduced FA values in the internal and external capsule, corpus callosum and superior, middle superior and inferior fasciculus. Within this group of children, visual motor and visual perceptual deficits were associated with low FA values in the external capsule, posterior part of the internal capsule and in the inferior fasciculus. Children with low IQ had low FA values in the external capsule and inferior and middle superior fasciculus. Fine motor impairment was related to low FA values in the internal and external capsule and superior fasciculus. Eight VLBW children with inattention symptoms or a diagnosis of ADHD had significantly lower FA values in several areas. Mild social deficits correlated with reduced FA values in the external capsule and superior fasciculus. We

  8. Quantum localization of classical mechanics

    NASA Astrophysics Data System (ADS)

    Batalin, Igor A.; Lavrov, Peter M.

    2016-07-01

    Quantum localization of classical mechanics within the BRST-BFV and BV (or field-antifield) quantization methods are studied. It is shown that a special choice of gauge fixing functions (or BRST-BFV charge) together with the unitary limit leads to Hamiltonian localization in the path integral of the BRST-BFV formalism. In turn, we find that a special choice of gauge fixing functions being proportional to extremals of an initial non-degenerate classical action together with a very special solution of the classical master equation result in Lagrangian localization in the partition function of the BV formalism.

  9. The complex of myxomas, spotty skin pigmentation and endocrine overactivity (Carney complex): imaging findings with clinical and pathological correlation.

    PubMed

    Courcoutsakis, Nikos A; Tatsi, Christina; Patronas, Nicholas J; Lee, Chiy-Chia Richard; Prassopoulos, Panos K; Stratakis, Constantine A

    2013-02-01

    The complex of myxomas, spotty skin pigmentation and endocrine overactivity, or Carney complex (CNC), is a familial multiple endocrine neoplasia and lentiginosis syndrome. CNC is inherited in an autosomal dominant manner and is genetically heterogeneous. Its features overlap those of McCune-Albright syndrome and other multiple endocrine neoplasia (MEN) syndromes. Spotty skin pigmentation is the major clinical manifestation of the syndrome, followed by multicentric heart myxomas, which occur at a young age and are the lethal component of the disease. Myxomas may also occur on the skin (eyelid, external ear canal and nipple) and the breast. Breast myxomas, when present, are multiple and bilateral among female CNC patients, an entity which is also described as "breast-myxomatosis" and is a characteristic feature of the syndrome. Affected CNC patients often have tumours of two or more endocrine glands, including primary pigmented nodular adrenocortical disease (PPNAD), an adrenocorticotropin hormone (ACTH)-independent cause of Cushing's syndrome, growth hormone (GH)-secreting and prolactin (PRL)-secreting pituitary adenomas, thyroid adenomas or carcinomas, testicular neoplasms (large-cell calcifying Sertoli cell tumours [LCCSCT]) and ovarian lesions (cysts and cancinomas). Additional infrequent but characteristic manifestations of CNC are psammomatous melanotic schwannomas (PMS), breast ductal adenomas (DAs) with tubular features, and osteochondromyxomas or "Carney bone tumour". Teaching Points • Almost 60 % of the known CNC kindreds have a germline inactivating mutations in the PRKAR1A gene. • Spotty skin pigmentation is the major clinical manifestation of CNC, followed by heart myxomas. • Indicative imaging signs of PPNAD are contour abnormality and hypodense spots within the gland. • Two breast tumours may present in CNC: myxoid fibroadenomas (breast myxomatosis) and ductal adenomas. • Additional findings of CNC are psammomatous melanotic schwannomas

  10. Dural arteriovenous fistulas of the hypoglossal canal: systematic review on imaging anatomy, clinical findings, and endovascular management.

    PubMed

    Spittau, Björn; Millán, Diego San; El-Sherifi, Saad; Hader, Claudia; Singh, Tejinder Pal; Motschall, Edith; Vach, Werner; Urbach, Horst; Meckel, Stephan

    2015-04-01

    Dural arteriovenous fistulas (DAVFs) of the hypoglossal canal (HCDAVFs) are rare and display a complex angiographic anatomy. Hitherto, they have been referred to as various entities (for example, "marginal sinus DAVFs") solely described in case reports or small series. In this in-depth review of HCDAVF, the authors describe clinical and imaging findings, as well as treatment strategies and subsequent outcomes, based on a systematic literature review supplemented by their own cases (120 cases total). Further, the involved craniocervical venous anatomy with variable venous anastomoses is summarized. Hypoglossal canal DAVFs consist of a fistulous pouch involving the anterior condylar confluence and/or anterior condylar vein with a variable intraosseous component. Three major types of venous drainage are associated with distinct clinical patterns: Type 1, with anterograde drainage (62.5%), mostly presents with pulsatile tinnitus; Type 2, with retrograde drainage to the cavernous sinus and/or orbital veins (23.3%), is associated with ocular symptoms and may mimic cavernous sinus DAVF; and Type 3, with cortical and/or perimedullary drainage (14.2%), presents with either hemorrhage or cervical myelopathy. For Types 1 and 2 HCDAVF, transvenous embolization demonstrates high safety and efficacy (2.9% morbidity, 92.7% total occlusion). Understanding the complex venous anatomy is crucial for planning alternative approaches if standard transjugular access is impossible. Transarterial embolization or surgical disconnection (morbidity 13.3%-16.7%) should be reserved for Type 3 HCDAVFs or lesions with poor venous access. A conservative strategy could be appropriate in Type 1 HCDAVF for which spontaneous regression (5.8%) may be observed. PMID:25415064

  11. Genetic polymorphisms affecting susceptibility to mercury neurotoxicity in children: summary findings from the Casa Pia Children's Amalgam clinical trial.

    PubMed

    Woods, James S; Heyer, Nicholas J; Russo, Joan E; Martin, Michael D; Farin, Federico M

    2014-09-01

    Mercury (Hg) is neurotoxic, and children may be particularly susceptible to this effect. A current major challenge is identification of children who may be uniquely susceptible to Hg toxicity because of genetic predisposition. We examined the possibility that common genetic variants that are known to affect neurologic functions or Hg handling in adults would modify the adverse neurobehavioral effects of Hg exposure in children. Three hundred thirty subjects who participated as children in the recently completed Casa Pia Clinical Trial of Dental Amalgams in Children were genotyped for 27 variants of 13 genes that are reported to affect neurologic functions and/or Hg disposition in adults. Urinary Hg concentrations, reflecting Hg exposure from any source, served as the Hg exposure index. Regression modeling strategies were employed to evaluate potential associations between allelic status for individual genes or combinations of genes, Hg exposure, and neurobehavioral test outcomes assessed at baseline and for 7 subsequent years during the clinical trial. Among boys, significant modification of Hg effects on neurobehavioral outcomes over a broad range of neurologic domains was observed with variant genotypes for 4 of 13 genes evaluated. Modification of Hg effects on a more limited number of neurobehavioral outcomes was also observed for variants of another 8 genes. Cluster analyses suggested some genes interacting in common processes to affect Hg neurotoxicity. In contrast, significant modification of Hg effects on neurobehavioral functions among girls with the same genotypes was substantially more limited. These observations suggest increased susceptibility to the adverse neurobehavioral effects of Hg among children, particularly boys, with genetic variants that are relatively common to the general human population. These findings advance public health goals to identify factors underlying susceptibility to Hg toxicity and may contribute to strategies for preventing

  12. Anti-tumor necrosis factor treatment in cherubism--clinical, radiological and histological findings in two children.

    PubMed

    Hero, M; Suomalainen, A; Hagström, J; Stoor, P; Kontio, R; Alapulli, H; Arte, S; Toiviainen-Salo, S; Lahdenne, P; Mäkitie, O

    2013-01-01

    Cherubism is a rare and disfiguring genetic disorder with excessive bone resorption and multilocular lesions in the mandible and/or maxilla. The disease-causing gain-of-function mutations in the SH3-binding protein 2 (SH3BP2) gene result in increased myeloid cell responses to macrophage colony stimulating factor and RANK ligand, formation of hyperactive osteoclasts (giant cells), and hyper-reactive macrophages that produce excessive amounts of the inflammatory cytokine tumor necrosis factor α (TNF-α). Recent findings in the cherubism mouse model suggest that TNF-α plays a major role in disease pathogenesis and that removal of TNF-α prevents development of the bone phenotype. We treated two children with cherubism with the TNF-α antagonist adalimumab for approximately 2.5 years and collected extensive clinical, radiological and histological follow-up data during the treatment. Histologically the treatment resulted in a significant reduction in the number of multinucleated giant cells and TNF-α staining positivity in both patients. As evaluated by computed tomography and magnetic resonance imaging, the lesions in Patient 1 showed either moderate enlargement (mandibular symphysis) or remained stable (mandibular rami and body, the maxilla). In Patient 2, the lesions in mandibular symphysis showed enlargement during the first 8 months of treatment, and thereafter the lesions remained unchanged. Bone formation and resorption markers remained unaffected. The treatment was well tolerated. Based on our findings, TNF-α antagonist may decrease the formation of pathogenic giant cells, but does not result in lesion regression or prevent lesion expansion in active cherubism. TNF-α modulator treatment thus does not appear to provide sufficient amelioration for patients suffering from cherubism. PMID:23069372

  13. Anti-tumor necrosis factor treatment in cherubism--clinical, radiological and histological findings in two children.

    PubMed

    Hero, M; Suomalainen, A; Hagström, J; Stoor, P; Kontio, R; Alapulli, H; Arte, S; Toiviainen-Salo, S; Lahdenne, P; Mäkitie, O

    2013-01-01

    Cherubism is a rare and disfiguring genetic disorder with excessive bone resorption and multilocular lesions in the mandible and/or maxilla. The disease-causing gain-of-function mutations in the SH3-binding protein 2 (SH3BP2) gene result in increased myeloid cell responses to macrophage colony stimulating factor and RANK ligand, formation of hyperactive osteoclasts (giant cells), and hyper-reactive macrophages that produce excessive amounts of the inflammatory cytokine tumor necrosis factor α (TNF-α). Recent findings in the cherubism mouse model suggest that TNF-α plays a major role in disease pathogenesis and that removal of TNF-α prevents development of the bone phenotype. We treated two children with cherubism with the TNF-α antagonist adalimumab for approximately 2.5 years and collected extensive clinical, radiological and histological follow-up data during the treatment. Histologically the treatment resulted in a significant reduction in the number of multinucleated giant cells and TNF-α staining positivity in both patients. As evaluated by computed tomography and magnetic resonance imaging, the lesions in Patient 1 showed either moderate enlargement (mandibular symphysis) or remained stable (mandibular rami and body, the maxilla). In Patient 2, the lesions in mandibular symphysis showed enlargement during the first 8 months of treatment, and thereafter the lesions remained unchanged. Bone formation and resorption markers remained unaffected. The treatment was well tolerated. Based on our findings, TNF-α antagonist may decrease the formation of pathogenic giant cells, but does not result in lesion regression or prevent lesion expansion in active cherubism. TNF-α modulator treatment thus does not appear to provide sufficient amelioration for patients suffering from cherubism.

  14. Juvenile idiopathic arthritis and rheumatoid arthritis: bacterial diversity in temporomandibular joint synovial fluid in comparison with immunological and clinical findings.

    PubMed

    Olsen-Bergem, H; Kristoffersen, A K; Bjørnland, T; Reseland, J E; Aas, J A

    2016-03-01

    Temporomandibular joint (TMJ) involvement in juvenile idiopathic arthritis (JIA) occurs in up to 80% of affected children. The purpose of this study was to investigate the presence of bacterial DNA in synovial fluid, and to compare this with clinical and immunological findings in children with JIA, adults with persistent JIA, and adults with rheumatoid arthritis, in order to detect whether bacteria contribute to inflammation in TMJ arthritis. Synovial fluid and skin swab samples were collected from 30 patients (54 TMJs). Bacterial detection was performed using 16S rRNA pyrosequencing. Bacterial DNA was detected in 31 TMJs (57%) in 19 patients (63%). A positive statistically significant correlation was registered between bacterial DNA detected in TMJ synovial fluid and the following factors: total protein concentration in synovial fluid, interleukin 1β, tumour necrosis factor alpha, adrenocorticotropic hormone, and adiponectin, as well as the duration of the general medical disease. Fourteen different bacterial species were detected in synovial fluid. Bacterial DNA in TMJ synovial fluid without contamination was detected in more than 50% of the patients. Studies are needed to evaluate the consequences of this bacterial DNA in synovial fluid with regard to TMJ arthritis. PMID:26554824

  15. Visual query tool for finding patient cohorts from a clinical data warehouse of the partners HealthCare system

    PubMed

    Murphy; Barnett; Chueh

    2000-01-01

    The patient base of the Partners HealthCare System in Boston exceeds 1.8 million. Many of these patients are desirable for participation in research studies. To facilitate their discovery, we developed a data warehouse to contain clinical characteristics of these patients. The data warehouse contains diagnosis and procedures from administrative databases. The patients are indexed across institutions and their demographics provided by an Enterprise Master Patient Indexing service. Characteristics of the diagnoses and procedures such as associated providers, dates of service, inpatient/outpatient status, and other visit-related characteristics are also fed from the administrative systems. The targeted users of this system are research clinician s interested in finding patient cohorts for research studies. Their data requirements were analyzed and have been reported elsewhere. We did not expect the clinicians to become expert users of the system. Tools for querying healthcare data have traditionally been text based, although graphical interfaces have been pursued. In order to support the simple drag and drop visual model, as well as the identification and distribution of the patient data, a three-tier software architecture was developed. The user interface was developed in Visual Basic and distributed as an ActiveX object embedded in an HTML page. The middle layer was developed in Java and Microsoft COM. The queries are represented throughout their lifetime as XML objects, and the Microsoft SQL7 database is queried and managed in standard SQL.

  16. Biopsy proven medullary sponge kidney: clinical findings, histopathology, and role of osteogenesis in stone and plaque formation.

    PubMed

    Evan, Andrew P; Worcester, Elaine M; Williams, James C; Sommer, Andre J; Lingeman, James E; Phillips, Carrie L; Coe, Fredric L

    2015-05-01

    Medullary sponge kidney (MSK) is associated with recurrent stone formation, but the clinical phenotype is unclear because patients with other disorders may be incorrectly labeled MSK. We studied 12 patients with histologic findings pathognomonic of MSK. All patients had an endoscopically recognizable pattern of papillary malformation, which may be segmental or diffuse. Affected papillae are enlarged and billowy, due to markedly enlarged inner medullary collecting ducts (IMCD), which contain small, mobile ductal stones. Patients had frequent dilation of Bellini ducts, with occasional mineral plugs. Stones may form over white (Randall's) plaque, but most renal pelvic stones are not attached, and have a similar morphology as ductal stones, which are a mixture of calcium oxalate and apatite. Patients had no abnormalities of urinary acidification or acid excretion; the most frequent metabolic abnormality was idiopathic hypercalciuria. Although both Runx2 and Osterix are expressed in papillae of MSK patients, no mineral deposition was seen at the sites of gene expression, arguing against a role of these genes in this process. Similar studies in idiopathic calcium stone formers showed no expression of these genes at sites of Randall's plaque. The most likely mechanism for stone formation in MSK appears to be crystallization due to urinary stasis in dilated IMCD with subsequent passage of ductal stones into the renal pelvis where they may serve as nuclei for stone formation. PMID:25615853

  17. Phimosis in male dromedary camels: Clinical findings and changes in the hemogram, nitric oxide metabolites, and testosterone concentrations.

    PubMed

    Ali, Ahmed; Derar, Derar; Al-Sobyil, Fahd A; Zeitoun, Moustafa M; Hassanein, Khaled M A; Al-Howas, Abdella

    2016-06-01

    The objectives of this study were to elucidate the clinical findings in male dromedary camels with phimosis (PHI, n = 43) and to investigate the association of this syndrome with the hemogram, nitric oxide metabolites (NOMs), and testosterone concentrations. History and signalment were obtained, and a breeding soundness examination was performed. The penis was exteriorized after administration of a pudendal nerve block. Abnormal masses obtained from the prepuce and penis were prepared for histopathology. Blood samples for hemogram assessment were taken from the diseased animals and from 10 healthy control males. Total nitrates/nitrites were determined in sera using the Griess assay. Testosterone was estimated in sera using ELISA. Phimosis associated with detectable pathologic lesions, mainly including ulcerative posthitis and lacerated glans penis, was present in 34 (79.1%) of the 43 cases (PHI-P), whereas the remaining nine (20.9%) of the 43 cases had no noticeable lesions (PHI-N). The PHI-P group showed higher leukocyte counts (P = 0.001), especially neutrophils (P = 0.0001), and greater NOM concentrations (P = 0.002) than the PHI-N and control groups. However, testosterone concentrations did not differ among groups. In conclusion, PHI in the male dromedary camels was mainly associated with ulcerative posthitis and laceration of the glans penis. The presence of pathologic lesions in cases with PHI was associated with leukocytosis, neutrophilia, and high NOM concentrations. PMID:26879996

  18. Florid cemento-osseous dysplasia: Report of a case documented with clinical, radiographic, biochemical and histological findings.

    PubMed

    Kutluay Köklü, Harika; Cankal, Dilek A; Bozkaya, Süleyman; Ergün, Gülfem; Bar, Emre

    2013-02-01

    Florid cemento-osseous dysplasia (FCOD) has been described as a condition that characteristically affects the jaws of middle-aged black women. This condition has also been classified as gigantiform cementoma, chronic sclerosing osteomyelitis, sclerosing osteitis, multiple estenosis and sclerotic cemental masses. It usually exhibits as multiple radiopaque cementum-like masses distributed throughout the jaws. Radiographically, FCOD appears as dense, lobulated masses, often symmetrically located in various regions of the jaws. Computed tomography, because of its ability to give axial, sagittal, and frontal views, is useful in the evaluation of these lesions. This article reports the case of a 45-year-old white man who was diagnosed with FCOD on the basis of clinical, radiographic, biochemical and histological findings. It is of major importance to realize that all dentists have a unique opportunity as well as ethical obligation to assist in the struggle against wrong dental treatments that might save patients dental health. This case report illustrates the point that periapical radiolucencies may represent benign fibro-osseous lesions that may be overlooked or result in unnecessary endodontic treatment. Key words:Florid cemento-osseous dysplasia, florid osseous dysplasia, fibro-osseous lesions. PMID:24455053

  19. Biopsy proven medullary sponge kidney: clinical findings, histopathology, and role of osteogenesis in stone and plaque formation.

    PubMed

    Evan, Andrew P; Worcester, Elaine M; Williams, James C; Sommer, Andre J; Lingeman, James E; Phillips, Carrie L; Coe, Fredric L

    2015-05-01

    Medullary sponge kidney (MSK) is associated with recurrent stone formation, but the clinical phenotype is unclear because patients with other disorders may be incorrectly labeled MSK. We studied 12 patients with histologic findings pathognomonic of MSK. All patients had an endoscopically recognizable pattern of papillary malformation, which may be segmental or diffuse. Affected papillae are enlarged and billowy, due to markedly enlarged inner medullary collecting ducts (IMCD), which contain small, mobile ductal stones. Patients had frequent dilation of Bellini ducts, with occasional mineral plugs. Stones may form over white (Randall's) plaque, but most renal pelvic stones are not attached, and have a similar morphology as ductal stones, which are a mixture of calcium oxalate and apatite. Patients had no abnormalities of urinary acidification or acid excretion; the most frequent metabolic abnormality was idiopathic hypercalciuria. Although both Runx2 and Osterix are expressed in papillae of MSK patients, no mineral deposition was seen at the sites of gene expression, arguing against a role of these genes in this process. Similar studies in idiopathic calcium stone formers showed no expression of these genes at sites of Randall's plaque. The most likely mechanism for stone formation in MSK appears to be crystallization due to urinary stasis in dilated IMCD with subsequent passage of ductal stones into the renal pelvis where they may serve as nuclei for stone formation.

  20. Florid cemento-osseous dysplasia: Report of a case documented with clinical, radiographic, biochemical and histological findings.

    PubMed

    Kutluay Köklü, Harika; Cankal, Dilek A; Bozkaya, Süleyman; Ergün, Gülfem; Bar, Emre

    2013-02-01

    Florid cemento-osseous dysplasia (FCOD) has been described as a condition that characteristically affects the jaws of middle-aged black women. This condition has also been classified as gigantiform cementoma, chronic sclerosing osteomyelitis, sclerosing osteitis, multiple estenosis and sclerotic cemental masses. It usually exhibits as multiple radiopaque cementum-like masses distributed throughout the jaws. Radiographically, FCOD appears as dense, lobulated masses, often symmetrically located in various regions of the jaws. Computed tomography, because of its ability to give axial, sagittal, and frontal views, is useful in the evaluation of these lesions. This article reports the case of a 45-year-old white man who was diagnosed with FCOD on the basis of clinical, radiographic, biochemical and histological findings. It is of major importance to realize that all dentists have a unique opportunity as well as ethical obligation to assist in the struggle against wrong dental treatments that might save patients dental health. This case report illustrates the point that periapical radiolucencies may represent benign fibro-osseous lesions that may be overlooked or result in unnecessary endodontic treatment. Key words:Florid cemento-osseous dysplasia, florid osseous dysplasia, fibro-osseous lesions.

  1. Overview of Classical Swine Fever (Hog Cholera, Classical Swine fever)

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Classical swine fever is a contagious often fatal disease of pigs clinically characterized by high body temperature, lethargy, yellowish diarrhea, vomits and purple skin discoloration of ears, lower abdomen and legs. It was first described in the early 19th century in the USA. Later, a condition i...

  2. Understanding the Challenges of Integrating Scientists and Clinical Teachers in Psychiatry Education: Findings from an Innovative Faculty Development Program

    ERIC Educational Resources Information Center

    Martimianakis, Maria Athina; Hodges, Brian D.; Wasylenki, Donald

    2009-01-01

    Objective: Medical schools and departments of psychiatry around the world face challenges in integrating science with clinical teaching. This project was designed to identify attitudes toward the integration of science in clinical teaching and address barriers to collaboration between scientists and clinical teachers. Methods: The authors explored…

  3. New Insights into Clinical Characteristics of Gilles de la Tourette Syndrome: Findings in 1032 Patients from a Single German Center

    PubMed Central

    Sambrani, Tanvi; Jakubovski, Ewgeni; Müller-Vahl, Kirsten R.

    2016-01-01

    Background: Gilles de la Tourette syndrome (TS) is a complex neuropsychiatric disorder defined by the presence of motor and phonic tics, but often associated with psychiatric comorbidities. The main objective of this study was to explore the clinical presentation and comorbidities of TS. Method: We analyzed clinical data obtained from a large sample (n = 1032; 529 children and 503 adults) of patients with tic disorders from one single German TS center assessed by one investigator. Data was collected with the help of an expert-reviewed semi-structured interview, designed to assess tic severity and certain comorbidities. Group comparisons were carried out via independent sample t-tests and chi-square tests. Results: The main findings of the study are: (1) tic severity is associated with the presence of premonitory urges (PU), copro-, echo-, and paliphenomena and the number of comorbidities, but not age at tic onset; it is higher in patients with comorbid obsessive-compulsive disorder (OCD) than in patients with comorbid attention deficit/hyperactivity disorder (ADHD). (2) PU were found to be highly associated with “not just right experiences” and to emerge much earlier than previously thought alongside with the ability to suppress tics (PU in >60% and suppressibility in >75% at age 8–10 years). (3) Self-injurious behavior (SIB) is highly associated with complex motor tics and coprophenomena, but not with OCD/obsessive-compulsive behavior (OCB). While comorbid ADHD is associated with a lower ability to suppress tics, comorbid depression is associated with sleeping problems. Discussion: Our results demonstrate that tic severity is not influenced by age at onset. From our data, it is suggested that PU represent a specific type of “not just right experience” that is not a prerequisite for tic suppression. Comorbid ADHD reduces patients' ability of successful tic suppression. Our data suggest that SIB belongs to the coprophenomena spectrum and hence should be

  4. New Insights into Clinical Characteristics of Gilles de la Tourette Syndrome: Findings in 1032 Patients from a Single German Center

    PubMed Central

    Sambrani, Tanvi; Jakubovski, Ewgeni; Müller-Vahl, Kirsten R.

    2016-01-01

    Background: Gilles de la Tourette syndrome (TS) is a complex neuropsychiatric disorder defined by the presence of motor and phonic tics, but often associated with psychiatric comorbidities. The main objective of this study was to explore the clinical presentation and comorbidities of TS. Method: We analyzed clinical data obtained from a large sample (n = 1032; 529 children and 503 adults) of patients with tic disorders from one single German TS center assessed by one investigator. Data was collected with the help of an expert-reviewed semi-structured interview, designed to assess tic severity and certain comorbidities. Group comparisons were carried out via independent sample t-tests and chi-square tests. Results: The main findings of the study are: (1) tic severity is associated with the presence of premonitory urges (PU), copro-, echo-, and paliphenomena and the number of comorbidities, but not age at tic onset; it is higher in patients with comorbid obsessive-compulsive disorder (OCD) than in patients with comorbid attention deficit/hyperactivity disorder (ADHD). (2) PU were found to be highly associated with “not just right experiences” and to emerge much earlier than previously thought alongside with the ability to suppress tics (PU in >60% and suppressibility in >75% at age 8–10 years). (3) Self-injurious behavior (SIB) is highly associated with complex motor tics and coprophenomena, but not with OCD/obsessive-compulsive behavior (OCB). While comorbid ADHD is associated with a lower ability to suppress tics, comorbid depression is associated with sleeping problems. Discussion: Our results demonstrate that tic severity is not influenced by age at onset. From our data, it is suggested that PU represent a specific type of “not just right experience” that is not a prerequisite for tic suppression. Comorbid ADHD reduces patients' ability of successful tic suppression. Our data suggest that SIB belongs to the coprophenomena spectrum and hence should be

  5. Clinical and Laboratory Findings of the First Imported Case of Middle East Respiratory Syndrome Coronavirus to the United States

    PubMed Central

    Kapoor, Minal; Pringle, Kimberly; Kumar, Alan; Dearth, Stephanie; Liu, Lixia; Lovchik, Judith; Perez, Omar; Pontones, Pam; Richards, Shawn; Yeadon-Fagbohun, Jaime; Breakwell, Lucy; Chea, Nora; Cohen, Nicole J.; Schneider, Eileen; Erdman, Dean; Haynes, Lia; Pallansch, Mark; Tao, Ying; Tong, Suxiang; Gerber, Susan; Swerdlow, David; Feikin, Daniel R.

    2014-01-01

    Background. The Middle East respiratory syndrome coronavirus (MERS-CoV) was discovered September 2012 in the Kingdom of Saudi Arabia (KSA). The first US case of MERS-CoV was confirmed on 2 May 2014. Methods. We summarize the clinical symptoms and signs, laboratory and radiologic findings, and MERS-CoV–specific tests. Results. The patient is a 65-year-old physician who worked in a hospital in KSA where MERS-CoV patients were treated. His illness onset included malaise, myalgias, and low-grade fever. He flew to the United States on day of illness (DOI) 7. His first respiratory symptom, a dry cough, developed on DOI 10. On DOI 11, he presented to an Indiana hospital as dyspneic, hypoxic, and with a right lower lobe infiltrate on chest radiography. On DOI 12, his serum tested positive by real-time reverse transcription polymerase chain reaction (rRT-PCR) for MERS-CoV and showed high MERS-CoV antibody titers, whereas his nasopharyngeal swab was rRT-PCR negative. Expectorated sputum was rRT-PCR positive the following day, with a high viral load (5.31 × 106 copies/mL). He was treated with antibiotics, intravenous immunoglobulin, and oxygen by nasal cannula. He was discharged on DOI 22. The genome sequence was similar (>99%) to other known MERS-CoV sequences, clustering with those from KSA from June to July 2013. Conclusions. This patient had a prolonged nonspecific prodromal illness before developing respiratory symptoms. Both sera and sputum were rRT-PCR positive when nasopharyngeal specimens were negative. US clinicians must be vigilant for MERS-CoV in patients with febrile and/or respiratory illness with recent travel to the Arabian Peninsula, especially among healthcare workers. PMID:25100864

  6. Structure of classical affine and classical affine fractional W-algebras

    SciTech Connect

    Suh, Uhi Rinn

    2015-01-15

    We introduce a classical BRST complex (See Definition 3.2.) and show that one can construct a classical affine W-algebra via the complex. This definition clarifies that classical affine W-algebras can be considered as quasi-classical limits of quantum affine W-algebras. We also give a definition of a classical affine fractional W-algebra as a Poisson vertex algebra. As in the classical affine case, a classical affine fractional W-algebra has two compatible λ-brackets and is isomorphic to an algebra of differential polynomials as a differential algebra. When a classical affine fractional W-algebra is associated to a minimal nilpotent, we describe explicit forms of free generators and compute λ-brackets between them. Provided some assumptions on a classical affine fractional W-algebra, we find an infinite sequence of integrable systems related to the algebra, using the generalized Drinfel’d and Sokolov reduction.

  7. Incidental Intracranial Findings and Their Clinical Impact; The HUNT MRI Study in a General Population of 1006 Participants between 50-66 Years

    PubMed Central

    Håberg, Asta Kristine; Hammer, Tommy Arild; Kvistad, Kjell Arne; Rydland, Jana; Müller, Tomm B.; Eikenes, Live; Gårseth, Mari; Stovner, Lars Jacob

    2016-01-01

    Objectives Evaluate types and prevalence of all, incidental, and clinically relevant incidental intracranial findings, i.e. those referred to primary physician or clinical specialist, in a cohort between 50 and 66 years from the Nord-Trøndelag Health (HUNT) study. Types of follow-up, outcome of repeated neuroimaging and neurosurgical treatment were assessed. Material and Methods 1006 participants (530 women) underwent MRI of the head at 1.5T consisting of T1 weighted sagittal IR-FSPGR volume, axial T2 weighted, gradient echo T2* weighted and FLAIR sequences plus time of flight cerebral angiography covering the circle of Willis. The nature of a finding and if it was incidental were determined from previous radiological examinations, patient records, phone interview, and/or additional neuroimaging. Handling and outcome of the clinically relevant incidental findings were prospectively recorded. True and false positives were estimated from the repeated neuroimaging. Results Prevalence of any intracranial finding was 32.7%. Incidental intracranial findings were present in 27.1% and clinically relevant findings in 15.1% of the participants in the HUNT MRI cohort. 185 individuals (18.4%) were contacted by phone about their findings. 40 participants (6.2%) underwent ≥ 1 additional neuroimaging session to establish etiology. Most false positives were linked to an initial diagnosis of suspected glioma, and overall positive predictive value of initial MRI was 0.90 across different diagnoses. 90.8% of the clinically relevant incidental findings were developmental and acquired cerebrovascular pathologies, the remaining 9.2% were intracranial tumors, of which extra-axial tumors predominated. In total, 3.9% of the participants were referred to a clinical specialist, and 11.7% to their primary physician. 1.4% underwent neurosurgery/radiotherapy, and 1 (0.1%) experienced a procedure related postoperative deficit. Conclusions In a general population between 50 and 66 years most

  8. Cocaine Use among the College Age Group: Biological and Psychological Effects--Clinical and Laboratory Research Findings.

    ERIC Educational Resources Information Center

    Nicholi, Armand M., Jr.

    1984-01-01

    Knowledge about cocaine's effect on the human mind and body is limited and not clearly documented. This article discusses various biological and psychological effects of the drug based on clinical and laboratory studies of man. (Author/DF)

  9. The importance of diagnostic test parameters in the interpretation of clinical test findings: The Prone Hip Extension Test as an example

    PubMed Central

    Bruno, Paul

    2011-01-01

    The use of diagnostic tests is a crucial aspect of clinical practice since they assist clinicians in establishing whether a patient has or does not have a particular condition. In order for any clinical test to be used most appropriately, it is essential that several parameters be established regarding the test and that these are made known to clinicians to inform their clinical decision making. These include the test’s sensitivity, specificity, predictive values, and likelihood ratios. This article reviews their importance as well as provides an illustrative example that highlights how knowledge of the parameters for a given test allows clinicians to better interpret their test findings in practice. PMID:21629460

  10. Multimodality imaging in cranial blastomycosis, a great mimicker: Case-based illustration with review of clinical and imaging findings

    PubMed Central

    Kochar, Puneet S; Lath, Chinar O; Klein, Andrew P; Ulmer, John L

    2016-01-01

    We describe the clinical, laboratory, and imaging data of three patients who are proven cases of blastomycosis with cranial involvement. In this review, we discuss the imaging features of cranial blastomycosis with relevant clinical case examples including computed tomography (CT), magnetic resonance imaging (MRI), and advanced MR imaging techniques like magnetic resonance spectroscopy (MRS) and MR perfusion. Literature is reviewed for modern-day diagnosis and treatment of this fatal intracranial infection, if not diagnosed promptly and managed effectively. PMID:27081235

  11. Quantum computing classical physics.

    PubMed

    Meyer, David A

    2002-03-15

    In the past decade, quantum algorithms have been found which outperform the best classical solutions known for certain classical problems as well as the best classical methods known for simulation of certain quantum systems. This suggests that they may also speed up the simulation of some classical systems. I describe one class of discrete quantum algorithms which do so--quantum lattice-gas automata--and show how to implement them efficiently on standard quantum computers.

  12. The Classical Vacuum.

    ERIC Educational Resources Information Center

    Boyer, Timothy H.

    1985-01-01

    The classical vacuum of physics is not empty, but contains a distinctive pattern of electromagnetic fields. Discovery of the vacuum, thermal spectrum, classical electron theory, zero-point spectrum, and effects of acceleration are discussed. Connection between thermal radiation and the classical vacuum reveals unexpected unity in the laws of…

  13. The Classics Revivified.

    ERIC Educational Resources Information Center

    Matthews, Dorothy, Ed.

    1979-01-01

    The eight articles in this bulletin suggest methods of introducing classical literature into the English curriculum. Article titles are: "Ideas for Teaching Classical Mythology"; "What Novels Should High School Students Read?"; "Enlivening the Classics for Live Students"; "Poetry in Performance: The Value of Song and Oral Interpretation in…

  14. Classical Mechanics as Nonlinear Quantum Mechanics

    SciTech Connect

    Nikolic, Hrvoje

    2007-12-03

    All measurable predictions of classical mechanics can be reproduced from a quantum-like interpretation of a nonlinear Schroedinger equation. The key observation leading to classical physics is the fact that a wave function that satisfies a linear equation is real and positive, rather than complex. This has profound implications on the role of the Bohmian classical-like interpretation of linear quantum mechanics, as well as on the possibilities to find a consistent interpretation of arbitrary nonlinear generalizations of quantum mechanics.

  15. Asperger syndrome in India: findings from a case-series with respect to clinical profile and comorbidity.

    PubMed

    Sreedaran, Priya; Ashok, M V

    2015-01-01

    Asperger syndrome (AS) is an autism spectrum disorder with a high rate of psychiatric comorbidity. We describe the clinical profile and psychiatric comorbidity in a series of affected individuals referred to an Indian general hospital psychiatry setting. Gilliam Asperger's disorder scale was used to evaluate the clinical characteristics while Mini-International Neuropsychiatric Interview (MINI)-KID and MINI-PLUS were used to assess psychiatric comorbidity. The profile of subjects with AS in our case-series appears similar to that published elsewhere with high rates of psychiatric comorbidity. Mental health professionals should evaluate for psychiatric comorbidity in individuals with autism spectrum disorders.

  16. Predictive power of individual factors and clinical learning experience on academic success: findings from a longitudinal study.

    PubMed

    Dante, Angelo; Fabris, Stefano; Palese, Alvisa

    2015-01-01

    Academic failure is the inability of a nursing student to graduate or to complete the nursing degree on time. This longitudinal cohort study, involving 2 Italian universities, documents the effects of selected individual variables and the quality of the clinical learning experience as perceived by students on academic success. Factors related to the clinical learning experience were the quality of the supervisory relationship, pedagogical atmosphere, and commitment of the ward related to the level of personalized nursing care delivered and clarity of nursing documentation. PMID:25643319

  17. Asperger syndrome in India: findings from a case-series with respect to clinical profile and comorbidity.

    PubMed

    Sreedaran, Priya; Ashok, M V

    2015-01-01

    Asperger syndrome (AS) is an autism spectrum disorder with a high rate of psychiatric comorbidity. We describe the clinical profile and psychiatric comorbidity in a series of affected individuals referred to an Indian general hospital psychiatry setting. Gilliam Asperger's disorder scale was used to evaluate the clinical characteristics while Mini-International Neuropsychiatric Interview (MINI)-KID and MINI-PLUS were used to assess psychiatric comorbidity. The profile of subjects with AS in our case-series appears similar to that published elsewhere with high rates of psychiatric comorbidity. Mental health professionals should evaluate for psychiatric comorbidity in individuals with autism spectrum disorders. PMID:25969609

  18. Aromatic L-amino acid decarboxylase deficiency with hyperdopaminuria. Clinical and laboratory findings in response to different therapies.

    PubMed

    Fiumara, A; Bräutigam, C; Hyland, K; Sharma, R; Lagae, L; Stoltenborg, B; Hoffmann, G F; Jaeken, J; Wevers, R A

    2002-08-01

    Aromatic L-amino acid decarboxylase (AADC - E.C. 4.1.1.28) converts L-dopa to dopamine and 5-hydroxytryptophan to serotonin. Inherited deficiency of this enzyme leads to decreased brain levels of these neurotransmitters. Clinically this results in the development of a progressive neurometabolic disorder characterized by severe hypotonia, dystonic and choreoathetoid movements, oculogyric crises, and hypothermia from infancy. Here we describe the clinical, biochemical and molecular details of two affected brothers, one of whom, despite the lack of AADC, presented with hyperdopaminuria. In addition, we detail his reactions to treatment with dopaminergic agonists, monoamine oxidase inhibitors and pyridoxine.

  19. Primary hypertrophic osteoarthropathy caused by homozygous deletion in HPGD gene in a family: changing clinical and radiological findings with long-term follow-up.

    PubMed

    Tüysüz, Beyhan; Yılmaz, Saliha; Kasapçopur, Özgür; Erener-Ercan, Tuğba; Ceyhun, Emre; Bilguvar, Kaya; Günel, Murat

    2014-11-01

    Autosomal recessive primary hypertrophic osteoarthropathy1 (PHOAR1) is characterized by delayed closure of the fontanels, digital clubbing, arthropathy and periostosis. Homozygous mutations in hydroxyprostaglandin dehydrogenase (HPGD) gene are the underlying pathology of PHOAR1. The aim of this study was to analyze the HPGD gene and the changing clinical and radiological findings with advancing age of two siblings with the diagnosis of PHOAR1. A novel 2-bp homozygous deletion was found in exon 3 (c.310-311delCT) of HPGD gene in the patients. Clinical and radiological findings of the siblings were evaluated between 4 months and 8 years and 6 months of age. The painful swelling and sweating of the hands and feet, cranial ossification defect and expanded diaphyses were evident at infantile period and gradually showed improvement until 4 years of age. After the age of 4 years, digital clubbing and swelling of knees persisted, palmoplantar hyperkeratosis developed and acro-osteolysis became evident on hand radiographs. In conclusion, we suggest that the clinical findings of the patients with PHOAR1 should be classified in two periods as early and late childhood. We also observed that there was intrafamilial variability of clinical findings. PMID:24816859

  20. Clinical Ethics in Gabon: The Spectrum of Clinical Ethical Issues Based on Findings from In-Depth Interviews at Three Public Hospitals

    PubMed Central

    Sippel, Daniel; Marckmann, Georg; Ndzie Atangana, Etienne; Strech, Daniel

    2015-01-01

    Introduction Unlike issues in biomedical research ethics, ethical challenges arising in daily clinical care in Sub-Saharan African countries have not yet been studied in a systematic manner. However this has to be seen as a distinct entity as we argue in this paper. Our aim was to give an overview of the spectrum of clinical ethical issues and to understand what influences clinical ethics in the Sub-Saharan country of Gabon. Materials and Methods In-depth interviews with 18 health care professionals were conducted at three hospital sites in Gabon. Interview transcripts were analyzed using a grounded theory approach (open and axial coding), giving a qualitative spectrum of categories for clinical ethical issues. Validity was checked at a meeting with study participants and other health care experts in Gabon after analysis of the data. Results Twelve main categories (with 28 further-specified subcategories) for clinical ethical issues were identified and grouped under three core categories: A) micro level: “confidentiality and information”, “interpersonal, relational and behavioral issues”, “psychological strain of individuals”, and “scarce resources”; B) meso level: “structural issues of medical institutions”, “issues with private clinics”, “challenges connected to the family”, and “issues of education, training and competence”; and C) macro level: “influence of society, culture, religion and superstition”, “applicability of western medicine”, “structural issues on the political level”, and “legal issues”. Discussion Interviewees reported a broad spectrum of clinical ethical issues that go beyond challenges related to scarce financial and human resources. Specific socio-cultural, historical and educational backgrounds also played an important role. In fact these influences are central to an understanding of clinical ethics in the studied local context. Further research in the region is necessary to put our study into

  1. Can I be sued for that? Liability risk and the disclosure of clinically significant genetic research findings

    PubMed Central

    McGuire, Amy L.; Knoppers, Bartha Maria; Zawati, Ma’n H.; Clayton, Ellen Wright

    2014-01-01

    Genomic researchers increasingly are faced with difficult decisions about whether, under what circumstances, and how to return research results and significant incidental findings to study participants. Many have argued that there is an ethical—maybe even a legal—obligation to disclose significant findings under some circumstances. At the international level, over the last decade there has begun to emerge a clear legal obligation to return significant findings discovered during the course of research. However, there is no explicit legal duty to disclose in the United States. This creates legal uncertainty that may lead to unmanaged variation in practice and poor quality care. This article discusses liability risks associated with the disclosure of significant research findings for investigators in the United States. PMID:24676095

  2. Clinical, cytogenetic, and molecular findings in a patient with a 46,XX,del(18)(q22)/46,XX,idic(18)(q22) karyotype.

    PubMed

    Rittinger, Olaf; Krabichler, Birgit; Kronberger, Gabriela; Kotzot, Dieter

    2015-11-01

    Pseudoisodicentric or asymmetrical dicentric chromosomes 18 are rare findings in clinical cytogenetics. So far, only 8 patients with breakpoints in 18q have been reported and in none of them breakpoints were narrowed down to the molecular level. Here, we describe a 17 months old girl with a perimembranous ventricular septal defect, cleft palate, and minor dysmorphism including hypertelorism, flat nose, frontal bossing and low set ears as well as mosaicism for a cell line with a pseudoisodicentric chromosome 18q and a second cell line with a terminal deletion of 11 Mb in 18q22.2→qter. SNP-array investigation revealed a symmetric breakpoint in 18q22.2 and most likely postzygotic formation from the maternal chromosome 18. Clinical findings in all patients reported so far as well as in the patient presented here were in part overlapping with the clinical phenotypes of trisomy 18 and partial monosomy 18q.

  3. Posttraumatic Stress Disorder, Exposure to Combat, and Lower Plasma Cortisol among Vietnam Veterans: Findings and Clinical Implications.

    ERIC Educational Resources Information Center

    Boscarino, Joseph A.

    1996-01-01

    Clinical studies suggest individuals with posttraumatic stress disorder (PSD) experience neuroendocrine systems alterations, resulting in significantly lower plasma cortisol. To test this hypothesis, morning serum cortisol was compared among a national sample of Vietnam "theater" veterans (n=2,490) and a sample of Vietnam "era" veterans (n=1,972)…

  4. Determinants of Patient Satisfaction in Internal Medicine Resident Continuity Clinics: Findings of the Educational Innovations Project Ambulatory Collaborative

    PubMed Central

    Francis, Maureen D.; Warm, Eric; Julian, Katherine A.; Rosenblum, Michael; Thomas, Kris; Drake, Sean; Gwisdalla, Keri Lyn; Langan, Michael; Nabors, Christopher; Pereira, Anne; Smith, Amy; Sweet, David; Varney, Andrew; Francis, Mark L.

    2014-01-01

    Background Many internal medicine programs have reorganized their resident continuity clinics to improve the ambulatory care experience for residents. The effect of this redesign on patient satisfaction is largely unknown. Methods Our multi-institutional, cross-sectional study included 569 internal medicine residents from 11 programs participating in the Educational Innovations Project Ambulatory Collaborative. An 11-item patient satisfaction survey from the Consumer Assessment of Healthcare Providers and Systems was used to assess patient satisfaction, comparing patient satisfaction in traditional models of weekly continuity clinic with 2 new clinic models. We then examined the relationship between patient satisfaction and other practice variables. Results Patient satisfaction responses related to resident listening and communication skills, knowledge of medical history, perception of adequate visit time, overall rating, and willingness to refer to family and friends were significantly better in the traditional and block continuity models than the combination model. Higher ambulatory workload was associated with reduced patient perception of respect shown by the physician. The percentage of diabetic patients with glycated hemoglobin < 8% was positively correlated with number of visits, knowledge of medical history, perception of respect, and higher scores for recommending the physician to others. The percentage of diabetic patients with low density lipoprotein < 100 mg/dL was positively correlated with the physician showing respect. Conclusions Patient satisfaction was similar in programs using block design and traditional models for continuity clinic, and both outperformed the combination model programs. There was a delicate balance between workload and patient perception of the physician showing respect. Care outcome measures for diabetic patients were associated with aspects of patient satisfaction. PMID:26279771

  5. Case-control approach application for finding a relationship between candidate genes and clinical mastitis in Holstein dairy cattle.

    PubMed

    Bagheri, Masoumeh; Moradi-Sharhrbabak, M; Miraie-Ashtiani, R; Safdari-Shahroudi, M; Abdollahi-Arpanahi, R

    2016-02-01

    Mastitis is a major source of economic loss in dairy herds. The objective of this research was to evaluate the association between genotypes within SLC11A1 and CXCR1 candidate genes and clinical mastitis in Holstein dairy cattle using the selective genotyping method. The data set contained clinical mastitis records of 3,823 Holstein cows from two Holstein dairy herds located in two different regions in Iran. Data included the number of cases of clinical mastitis per lactation. Selective genotyping was based on extreme values for clinical mastitis residuals (CMR) from mixed model analyses. Two extreme groups consisting of 135 cows were formed (as cases and controls), and genotyped for the two candidate genes, namely, SLC11A1 and CXCR1, using polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) and polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), respectively. Associations between single nucleotide polymorphism (SNP) genotypes with CMR and breeding values for milk and protein yield were carried out by applying logistic regression analyses, i.e. estimating the probability of the heterogeneous genotype in the dependency of values for CMR and breeding values (BVs). The sequencing results revealed a novel mutation in 1139 bp of exon 11 of the SLC11A1 gene and this SNP had a significant association with CMR (P < 0.05). PCR-RFLP analysis leads to three banding patterns for CXCR1c.735C>G and these genotypes had significant relationships with CMR. Overall, the results showed that SLC11A1 and CXCR1 are valuable candidate genes for the improvement of mastitis resistance as well as production traits in dairy cattle populations.

  6. Infections on the rise: Raoultella spp., clinical and microbiological findings from a retrospective study, 2010-2014.

    PubMed

    Boattini, Matteo; Almeida, André; Cardoso, Catarina; Cruz, Cristiano Silva; Machado, Catarina; Vesza, Zsófia; Tosatto, Valentina; Maia, Dionísio; Cardoso, Sara; Pinto, Margarida; Moura, Rita Barata; Garcia, Teresa; Guerreiro, António Sousa

    2016-01-01

    We performed a retrospective analysis of clinical and laboratory data over 5 years in a tertiary centre to assess clinical and microbiological characteristics of patients with Raoultella spp. infection. Raoultella spp. were deemed responsible for clinical infections in 57 patients (R. planticola, n = 32 and R. ornithinolytica, n = 25). The most prevalent diagnoses for R. planticola were cystitis (50%; n = 16) followed by bacteraemia and pneumonia (9.4%; n = 3); for R. ornithinolytica, cystitis (36%; n = 9) followed by pneumonia (24%; n = 6). Immunodeficiency was present in 18 patients (56.3%) with R. planticola and in 16 patients (64%) with R. ornithinolytica infection. Of these, 55.6% and 37.5% had diabetes and 27.8% and 18.% were solid organ transplant recipients, respectively. All isolates were sensitive to third-generation cephalosporins, fluoroquinolones and aminoglycosides. Mortality of infections with R. planticola (n = 5; 15.6%) was higher than for R. ornithinolytica (n = 2; 8.0%), but the difference was not statistically significant.

  7. Infarction of Uterine Fibroids After Embolization: Relationship Between Postprocedural Enhanced MRI Findings and Long-Term Clinical Outcomes

    SciTech Connect

    Katsumori, Tetsuya Kasahara, Toshiyuki; Kin, Yoko; Nozaki, Taiki

    2008-01-15

    Purpose. To retrospectively evaluate the relationship between the degree of infarction of uterine fibroids on enhanced MRI after embolization and long-term clinical outcomes. Methods. During 92 months, 290 consecutive patients with symptomatic uterine fibroids were treated with embolization; 221 who underwent enhanced MRI before embolization and 1 week after embolization were included in this study. The infarction rates of all fibroid tissue were assessed using enhanced MRI after embolization. Patients were divided into three groups according to the infarction rates: group A (100% infarction, n 142), group B (90-99% infarction, n = 74), group C (<90% infarction, n = 5). The cumulative rates of clinical outcomes were compared among groups using the Kaplan-Meier limited method. Results. Group A had a significantly higher rate of symptom control than groups B and C. The cumulative rates of symptom control at 5 years were 93%, 71%, and 60% in groups A, B, and C, respectively. Group A had a significantly lower rate of gynecologic intervention after embolization than groups B and C. The cumulative rates of additional gynecologic intervention at 5 years were 3%, 15%, and 20% in groups A, B, and C, respectively. Conclusions. The degree of infarction of uterine fibroids after embolization on enhanced MRI was related to long-term clinical outcomes. Complete infarction of all fibroid tissue can induce a higher rate of symptom control, with a lower rate of additional gynecologic intervention in the long term compared with incomplete infarction of fibroid tissue.

  8. Bias in dissemination of clinical research findings: structured OPEN framework of what, who and why, based on literature review and expert consensus

    PubMed Central

    Bassler, Dirk; Mueller, Katharina F; Briel, Matthias; Kleijnen, Jos; Marusic, Ana; Antes, Gerd; von Elm, Erik; Altman, Douglas G; Meerpohl, Joerg J

    2016-01-01

    Objective The aim of this study is to review highly cited articles that focus on non-publication of studies, and to develop a consistent and comprehensive approach to defining (non-) dissemination of research findings. Setting We performed a scoping review of definitions of the term ‘publication bias’ in highly cited publications. Participants Ideas and experiences of a core group of authors were collected in a draft document, which was complemented by the findings from our literature search. Interventions The draft document including findings from the literature search was circulated to an international group of experts and revised until no additional ideas emerged and consensus was reached. Primary outcomes We propose a new approach to the comprehensive conceptualisation of (non-) dissemination of research. Secondary outcomes Our ‘What, Who and Why?’ approach includes issues that need to be considered when disseminating research findings (What?), the different players who should assume responsibility during the various stages of conducting a clinical trial and disseminating clinical trial documents (Who?), and motivations that might lead the various players to disseminate findings selectively, thereby introducing bias in the dissemination process (Why?). Conclusions Our comprehensive framework of (non-) dissemination of research findings, based on the results of a scoping literature search and expert consensus will facilitate the development of future policies and guidelines regarding the multifaceted issue of selective publication, historically referred to as ‘publication bias’. PMID:26801469

  9. Reflections on the role of a traveling wave along the basilar membrane in view of clinical and experimental findings.

    PubMed

    Sohmer, Haim

    2015-03-01

    Air conduction (AC) is accompanied by displacements of the two cochlear windows, bulk fluid flow between them, a pressure difference across the basilar membrane, leading to a passive traveling wave along the membrane, which activates the cochlear amplifier and enhances the displacements. AC interacts with bone conduction (BC) stimulation, so that it has been assumed that BC stimulation also involves a passive traveling wave. However, several clinical conditions and experimental manipulations provide evidence that a passive traveling wave may not be involved in BC stimulation at low intensities. Soft tissue conduction (STC) (also called non-osseous bone conduction) involves applying the bone vibrator to soft tissues on the head, neck and thorax, eliciting auditory sensation. STC stimulation probably does not involve a passive traveling wave. This review presents clinical conditions and experimental manipulations which assess the contributions of AC, BC and STC stimulation to the passive traveling wave. Evidence from the clinic (otosclerosis, round window atresia) and from the laboratory (holes in the wall of the inner ear, immobilization of the ossicular chain and the windows, discontinuity of the chain, measurement of basilar membrane displacements in the absence of the cochlear amplifier) lead to the conclusion that a passive basilar membrane traveling wave may not be involved in stimulation at low sound intensities. It is suggested that at low sound levels, the outer hair cell cochlear amplifier may not be activated by a passive traveling wave, but may be directly activated by the fast cochlear fluid pressures induced by AC, BC and STC stimulation. On the other hand, at high intensities, the cochlea is activated by the slow passive traveling wave.

  10. Discrepancy between Clinical and Final Pathological Evaluation Findings in Early Gastric Cancer Patients Treated with Endoscopic Submucosal Dissection

    PubMed Central

    Kim, Young-Il; Kim, Hyoung Sang; Kook, Myeong-Cherl; Cho, Soo-Jeong; Lee, Jong Yeul; Kim, Chan Gyoo; Ryu, Keun Won; Kim, Young-Woo

    2016-01-01

    Purpose Early gastric cancer cases that are estimated to meet indications for treatment before endoscopic submucosal resection are often revealed to be out-of-indication after the treatment. We investigated the short-term treatment outcomes in patients with early gastric cancer according to the pretreatment clinical endoscopic submucosal resection indications. Materials and Methods We retrospectively reviewed the medical records of patients with early gastric cancer that met the pretreatment endoscopic submucosal resection indications, from 2004 to 2011. Curative resection rate and proportion of out-of-indication cases were compared according to the pre-endoscopic submucosal resection indications. Pre-endoscopic submucosal resection factors associated with out-of-indication in the final pathological examination were analyzed. Results Of 756 cases, 660 had absolute and 96 had expanded pre-endoscopic submucosal resection indications. The curative resection rate was significantly lower in the patients with expanded indications (64.6%) than in those with absolute indications (81.7%; P<0.001). The cases with expanded indications (30.2%) were revealed to be out-of-indication more frequently than the cases with absolute indications (13.8%; P<0.001). Age of >65 years, tumor size of >2 cm, tumor location in the upper-third segment of the stomach, and undifferentiated histological type in pre-endoscopic submucosal resection evaluations were significant risk factors for out-of-indication after endoscopic submucosal resection. Conclusions Non-curative resection due to out-of-indication occurred in approximately one-third of the early gastric cancer cases that clinically met the expanded indications before endoscopic submucosal resection. The possibility of additional surgery should be emphasized for patients with early gastric cancers that clinically meet the expanded indications. PMID:27104025

  11. Intravitreal Autologous Bone Marrow CD34+ Cell Therapy for Ischemic and Degenerative Retinal Disorders: Preliminary Phase 1 Clinical Trial Findings

    PubMed Central

    Park, Susanna S.; Bauer, Gerhard; Abedi, Mehrdad; Pontow, Suzanne; Panorgias, Athanasios; Jonnal, Ravi; Zawadzki, Robert J.; Werner, John S.; Nolta, Jan

    2015-01-01

    Purpose. Because human bone marrow (BM) CD34+ stem cells home into damaged tissue and may play an important role in tissue repair, this pilot clinical trial explored the safety and feasibility of intravitreal autologous CD34+ BM cells as potential therapy for ischemic or degenerative retinal conditions. Methods. This prospective study enrolled six subjects (six eyes) with irreversible vision loss from retinal vascular occlusion, hereditary or nonexudative age-related macular degeneration, or retinitis pigmentosa. CD34+ cells were isolated under Good Manufacturing Practice conditions from the mononuclear cellular fraction of the BM aspirate using a CliniMACs magnetic cell sorter. After intravitreal CD34+ cell injection, serial ophthalmic examinations, microperimetry/perimetry, fluorescein angiography, electroretinography (ERG), optical coherence tomography (OCT), and adaptive optics OCT were performed during the 6-month follow-up. Results. A mean of 3.4 million (range, 1–7 million) CD34+ cells were isolated and injected per eye. The therapy was well tolerated with no intraocular inflammation or hyperproliferation. Best-corrected visual acuity and full-field ERG showed no worsening after 6 months. Clinical examination also showed no worsening during follow-up except among age-related macular degeneration subjects in whom mild progression of geographic atrophy was noted in both the study eye and contralateral eye at 6-month follow-up, concurrent with some possible decline on multifocal ERG and microperimetry. Cellular in vivo imaging using adaptive optics OCT showed changes suggestive of new cellular incorporation into the macula of the hereditary macular degeneration study eye. Conclusions. Intravitreal autologous BM CD34+ cell therapy appears feasible and well tolerated in eyes with ischemic or degenerative retinal conditions and merits further exploration. (ClinicalTrials.gov number, NCT01736059.) PMID:25491299

  12. Clinical findings and risk factors to oral squamous cell carcinoma in young patients: A 12-year retrospective analysis

    PubMed Central

    Santos, Hellen-Bandeira-de-Pontes; dos Santos, Thayana-Karla-Guerra; Paz, Alexandre-Rolim; Cavalcanti, Yuri-Wanderley; Nonaka, Cassiano-Francisco-Weege; Godoy, Gustavo-Pina

    2016-01-01

    Background In recent years have been observed an increased incidence of OSCC in young individuals. Based on this, the aim this study was to describe the clinical characteristics of all cases of OSCC in younger patients, diagnosed in two oncology referral hospitals, at the northeast region of Brazil within a 12-year period. Material and Methods Data regarding general characteristics of patients (age, gender and tobacco and/or alcohol habits) and information about the lesions (tumor location, size, regional lymph node metastasis, distant metastasis and clinical stage) were submitted to descriptive and inferential analysis. Statistical analysis included Chi-square and Fisher’s exact tests (P<0.05). Results Out of 2311 registered cases of OSCC, 76 (3.3%) corresponded to OSCC in patients under 45 years old. Most of them were male (n=62, 81.6%) and tobacco and/or alcohol users (n=40, 52.8%). The most frequent site was the tongue (n=31, 40.8%), with predominance of cases classified at advanced clinical stage (III and IV, n = 46, 60.5%). The advanced stage of OSCC (III and IV) was statistically associated with male gender (P=0.035), lower education level (P=0.007), intraoral site(P<0.001), presence of pain symptomatology (P=0.006), and consumption of tobacco and/or alcohol (P=0.001). Conclusions The profile of OSCC in young patients resembles to the commonly characteristics reported for overall population. The late diagnosis in young patients usually results in poor prognosis, associated with gender, harmful habits and tumor location. Although prevalence is low, stimulus to prevention and to early diagnosis should be addressed to young individuals exposed to risk factors. Key words:Squamous cell carcinoma, head and neck neoplasms, risk factors, young patients, prognosis. PMID:26827057

  13. Recurrent Intrathecal Methotrexate Induced Neurotoxicity in an Adolescent with Acute Lymphoblastic Leukemia: Serial Clinical and Radiologic Findings

    PubMed Central

    Brugnoletti, Fulvia; Morris, E. Brannon; Laningham, Fred H.; Patay, Zoltán; Pauley, Jennifer L; Pui, Ching-Hon; Jeha, Sima; Inaba, Hiroto

    2008-01-01

    Systemic and intrathecal methotrexate (MTX) are integral components of acute lymphoblastic leukemia (ALL) therapy, but can be associated with neurotoxicity. We describe here the case of an adolescent male with T-cell ALL who developed recurrent episodes of subacute neurotoxicity characterized by slurred speech, emotional lability, and hemiparesis after intrathecal MTX administration. Serial magnetic resonance imaging with diffusion-weighted imaging showed recurrent areas of restricted diffusion within cerebral hemispheric white matter, which correlated chronologically with the administration of intrathecal therapy and severity of clinical symptoms. Resolution of diffusion abnormalities did not preclude further toxicity and a large lesion could cause persisting symptoms. PMID:18831032

  14. Scuticociliatid ciliate outbreak in Australian potbellied seahorse, Hippocampus abdominalis (Lesson, 1827): clinical signs, histopathologic findings, and treatment with metronidazole.

    PubMed

    Di Cicco, Emiliano; Paradis, Erika; Stephen, Craig; Turba, Maria Elena; Rossi, Giacomo

    2013-06-01

    A severe outbreak of scuticociliatosis occurred in Australian pot-bellied seahorse, Hippocampus abdominalis (Lesson, 1872), kept at the Vancouver Aquarium Marine Science Centre (Vancouver, British Columbia, Canada). Clinical signs included anorexia, lethargy, irregular respiration, and death. Cytology and histopathology revealed a high number of histophagous ciliated protozoa within the tissues. The parasite, identified as Philasterides dicentrarchi, was observed in several internal organs that appeared edematous and hemorrhagic upon postmortem examination. Severe histopathologic lesions were reported in particular in the ovary, the kidney, and the intestine. This infection was successfully treated with metronidazole via bath therapy. No further evidence of this parasite was found in the treated fish.

  15. Clinical Presentation and Outcomes by Sex in Arrhythmogenic Right Ventricular Cardiomyopathy: Findings from the North American ARVC Registry

    PubMed Central

    Choudhary, Naila; Tompkins, Christine; Polonsky, Bronislava; Mcnitt, Scott; Calkins, Hugh; Estes, N. A. Mark; Krahn, Andrew D.; Link, Mark S.; Marcus, Frank I.; Towbin, Jeffrey A.; Zareba, Wojciech

    2016-01-01

    Clinical Presentation and Outcomes Background Sex differences in clinical presentation and outcomes of hereditary arrhythmias are commonly reported. We aimed to compare clinical presentation and outcomes in men and women with arrhythmogenic right ventricular cardiomyopathy (ARVC) enrolled in the North American ARVC Registry. Methods A total of 125 ARVC probands (55 females, mean age 38 ± 12; 70 males, mean age 41 ± 15) diagnosed, as either “affected” or “borderline” were included. Baseline clinical characteristics and time-dependent outcomes including syncope, ventricular tachycardia (VT), fast VT (>240 bpm), ventricular fibrillation (VF), and death were compared between males and females. Results The percentage of ARVC subjects diagnosed as “affected” (84% vs. 89%; P = 0.424) or “borderline” (16% vs. 11%; P = 0.424) was similar between females and males. Among the baseline characteristics, inverted T-waves in V2 trended to be more common in women (P = 0.09), whereas abnormal signal-averaged ECGs (SAECGs; P < 0.001) and inducible VT/VF (P = 0.026) were more frequent in men. During a mean follow-up of 37 ± 20 months, the probability of ICD-recorded VT/VF or death was not significantly different between men and women (P = 0.456). However, there was a trend toward lower risk of fast VT/VF or death in women compared to men (hazard ratio 0.41, 95% CI 0.151–1.113, P = 0.066). Abnormal SAECG and evidence of intramyocardial fat by cardiac MRI was associated with adverse outcomes in men (P = 0.006 and 0.02 respectively). Conclusion In the North American ARVC Registry, we found similar frequency of “affected” and “borderline” subjects between men and women. Sex-related differences were observed in baseline ECG, SAECG, Holter-recorded ventricular arrhythmias, and VT inducibility. Men showed a trend toward greater risk of fast VT than women. PMID:26840461

  16. D2 and 5-HT2 receptor effects of antipsychotics: bridging basic and clinical findings using PET.

    PubMed

    Remington, G; Kapur, S

    1999-01-01

    The advent of a number of new antipsychotics has been paralleled by efforts to better delineate their mechanisms of action and, in doing so, further our understanding of schizophrenia and its pathophysiology. Technological advances, such as positron emission tomography (PET), have proven to be powerful tools in this process, allowing us to evaluate in vivo models based primarily on in vitro evidence. Combined serotonin-2/dopamine-2 (5-HT2/D2) antagonism represents one such model, and we now have PET evidence available that can be extrapolated to our understanding and clinical use of both conventional and novel antipsychotics.

  17. Drug Signature-based Finding of Additional Clinical Use of LC28-0126 for Neutrophilic Bronchial Asthma

    PubMed Central

    Shin, Eunji; Lee, Yong Chul; Kim, So Ri; Kim, Soon Ha; Park, Joonghoon

    2015-01-01

    In recent decades, global pharmaceutical companies have suffered from an R&D innovation gap between the increased cost of a new drug’s development and the decreased number of approvals. Drug repositioning offers another opportunity to fill the gap because the approved drugs have a known safety profile for human use, allowing for a reduction of the overall cost of drug development by eliminating rigorous safety assessment. In this study, we compared the transcriptional profile of LC28-0126, an investigational drug for acute myocardial infarction (MI) at clinical trial, obtained from healthy male subjects with molecular activity profiles in the Connectivity Map. We identified dyphilline, an FDA-approved drug for bronchial asthma, as a top ranked connection with LC28-0126. Subsequently, we demonstrated that LC28-0126 effectively ameliorates the pathophysiology of neutrophilic bronchial asthma in OVALPS-OVA mice accompanied with a reduction of inflammatory cell counts in the bronchoalveolar lavage fluid (BALF), inhibition of the release of proinflammatory cytokines, relief of airway hyperactivity, and improvement of histopathological changes in the lung. Taken together, we suggest that LC28-0126 could be a potential therapeutic for bronchial asthma. In addition, this study demonstrated the potential general utility of computational drug repositioning using clinical profiles of the investigational drug. PMID:26626943

  18. Cervix carcinoma and incidental finding of medullary thyroid carcinoma by 18F-FDG PET/CT--clinical case.

    PubMed

    Chaushev, Borislav; Bochev, Pavel; Klisarova, Anelia; Yordanov, Kaloyan; Encheva, Elitsa; Dancheva, Jivka; Yordanova, Cvetelina; Hristozov, Kiril; Krasnaliev, Ivan; Radev, Radoslav; Nenkov, Rumen

    2014-01-01

    Thyroid nodules are encountered in clinical practice during the diagnostic procedures or patients' follow-up due to other diseases quite far from the thyroid gland with prevalence 4-50% in general population, depending on age, diagnostic method and race. The prevalence of thyroid nodules increases with age and their clarification should be done for their adequate treatment. An 18F-FDG PET/CT was done with a PET/CT scanner (Philips Gemini TF), consisting of dedicated lutetium orthosilicate full ring PET scanner and 16 slice CT. The PET/CT scan of the whole-body revealed on the CT portion a hypodense nodular lesion in the left lobe of the thyroid gland with increased uptake of 18F-FDG on the PET with SUVmax 10.3 and demonstrated a complete response to the induction therapy of the main oncological disease of the patient--squamous cell carcinoma. This clinical case demonstrates that whole-body 18F-FDG-PET/CT has an increasingly important role in the early evaluation of thyroid cancer as a second independent malignant localization. Focal thyroid lesion with high risk of thyroid malignancy was incidentally found on 18F-FDG PET/CT. PMID:25088110

  19. Clinical and Pathological Findings in Green Turtles (Chelonia mydas) from Gladstone, Queensland: Investigations of a Stranding Epidemic.

    PubMed

    Flint, Mark; Eden, Paul A; Limpus, Colin J; Owen, Helen; Gaus, Caroline; Mills, Paul C

    2015-06-01

    An investigation into the health of green turtles was undertaken near Gladstone, Queensland, in response to a dramatic increase in stranding numbers in the first half of 2011. A total of 56 live turtles were subject to clinical examination and blood sampling for routine blood profiles, and 12 deceased turtles underwent a thorough necropsy examination. This population of green turtles was found to be in poor body condition and a range of infectious and non-infectious conditions were identified in the unhealthy turtles, including hepato-renal insufficiency (up to 81%, 27/33 based on clinical pathology), cachexia (92%, 11/12), parasitism (75%, 9/12), cardiopulmonary anomalies (42%, 5/12), gastroenteritis (25%, 3/12), masses (25%, 3/12) and mechanical impediments (17%, 2/12 based on necropsy). Overall, there was no evidence to indicate a unifying disease as a primary cause of the mass mortality. Recent adverse weather events, historic regional contamination and nearby industrial activities are discussed as potential causative factors. PMID:25256011

  20. Clinical and Pathological Findings in Green Turtles (Chelonia mydas) from Gladstone, Queensland: Investigations of a Stranding Epidemic.

    PubMed

    Flint, Mark; Eden, Paul A; Limpus, Colin J; Owen, Helen; Gaus, Caroline; Mills, Paul C

    2015-06-01

    An investigation into the health of green turtles was undertaken near Gladstone, Queensland, in response to a dramatic increase in stranding numbers in the first half of 2011. A total of 56 live turtles were subject to clinical examination and blood sampling for routine blood profiles, and 12 deceased turtles underwent a thorough necropsy examination. This population of green turtles was found to be in poor body condition and a range of infectious and non-infectious conditions were identified in the unhealthy turtles, including hepato-renal insufficiency (up to 81%, 27/33 based on clinical pathology), cachexia (92%, 11/12), parasitism (75%, 9/12), cardiopulmonary anomalies (42%, 5/12), gastroenteritis (25%, 3/12), masses (25%, 3/12) and mechanical impediments (17%, 2/12 based on necropsy). Overall, there was no evidence to indicate a unifying disease as a primary cause of the mass mortality. Recent adverse weather events, historic regional contamination and nearby industrial activities are discussed as potential causative factors.

  1. Consent for Genetics Studies Among Clinical Trial Participants: Findings from Action for Health in Diabetes (Look AHEAD)

    PubMed Central

    Espeland, Mark A.; Dotson, Kathy; Jaramillo, Sarah A.; Kahn, Steven E.; Harrison, Barbara; Montez, Maria; Foreyt, John P.; Montgomery, Brenda; Knowler, William C.

    2008-01-01

    Background Increasingly, genetic specimens are collected to expand the value of clinical trials through study of genetic effects on disease incidence, progression, or response to interventions. Purpose and methods We describe the experience obtaining IRB-approved DNA consent forms across the 19 institutions in the Action for Health in Diabetes (Look AHEAD), a clinical trial examining the effect of a lifestyle intervention for weight loss on the risk of serious cardiovascular events among individuals with type 2 diabetes. We document the rates participants provided consent for DNA research, identify participant characteristics associated with consent, and discuss implications for genetics research. Results IRB approval to participate was obtained from 17 of 19 institutions. The overall rate of consent was 89.6% among the 15 institutions that had completed consenting at the time of our analysis, which was higher than reported for other types of cohort studies. Consent rates were associated with factors expected to be associated with weight loss and cardiovascular disease and to affect the distribution of candidate genes. Non-consent occurred more frequently among participants grouped as African-American, Hispanic, female, more highly educated, or not dyslipidemic. Limitations The generalizabilty of results is limited by the inclusion/exclusion criteria of the trial. Conclusions Barriers to obtaining consent to participate in genetic studies may differ from other recruitment settings. Because of the potentially complex associations between personal characteristics related to adherence, outcomes, and gene distributions, differential rates of consent may introduce biases in estimates of genetic relationships. PMID:17060218

  2. Clinical adjudication in acute kidney injury studies: findings from the pivotal TIMP-2*IGFBP7 biomarker study

    PubMed Central

    Liu, Kathleen D.; Vijayan, Anitha; Rosner, Mitchell H.; Shi, Jing; Chawla, Lakhmir S.; Kellum, John A.

    2016-01-01

    Background The NEPROCHECK test (Astute Medical, San Diego, CA, USA) combines urinary tissue inhibitor of metalloproteinases-2 (TIMP-2) and insulin-like growth factor binding protein 7 (IGFBP7) to identify patients at high risk for acute kidney injury (AKI). In a US Food and Drug Administration registration trial (NCT01573962), AKI was determined by a three-member clinical adjudication committee. The objectives were to examine agreement among adjudicators as well as between adjudicators and consensus criteria for AKI and to determine the relationship of biomarker concentrations and adjudicator agreement. Methods Subjects were classified as AKI 3/3, 2/3, 1/3 or 0/3 according to the proportion of adjudicators classifying the case as AKI. Subjects were classified as Kidney Disease: Improving Global Outcomes (KDIGO) AKI(+) when stage 2 or 3 AKI criteria were met. Results Concordance between adjudicators and between adjudicators and KDIGO criteria were lower for AKI than non-AKI subjects [78.9 versus 97.3% (P < 0.001) and 91.5 versus 97.9% (P = 0.01)]. Subjects who were AKI 3/3 or 2/3 but KDIGO AKI(−) had higher median [TIMP-2]•[IGFBP7] compared with those who were AKI-1/3 or 0/3 but KDIGO AKI(+) {2.78 [interquartile range (IQR) 2.33–3.56] versus 0.52 [IQR 0.26–1.64]; P = 0.008}. [TIMP-2]•[IGFBP7] levels were highest in patients with AKI 3/3 and lowest in AKI 0/3, whereas AKI 2/3 and 1/3 exhibited intermediate values. Conclusions In this analysis, urine [TIMP-2]•[IGFBP7] levels correlated to clinically adjudicated AKI better than to KDIGO criteria. Furthermore, in difficult cases where adjudicators overruled KDIGO criteria, the biomarker test discriminated well. This study highlights the importance of clinical adjudication of AKI for biomarker studies and lends further support for the value of urine [TIMP-2]•[IGFBP7]. PMID:27342580

  3. Clinical, haematological and biochemical findings and the results of treatment in cattle with acute functional pyloric stenosis.

    PubMed

    Braun, U; Steiner, A; Kaegi, B

    1990-02-01

    The clinical features and changes in blood and rumen fluid, and the results of therapy are described in 10 cows suffering from acute functional pyloric stenosis. The general condition of the cows was moderately to severely disturbed. The abdomen of most of them was distended on one or both sides and the rumen was excessively full. Defecation was reduced or absent. In most of them there was moderate or severe abomasal reflux-syndrome. Exploratory laparotomy or slaughter revealed a grossly distended abomasum which was filled with ingesta but not displaced. The omasum, reticulum and rumen of most of the cows were dilated secondarily and filled with ingesta. Six of the cows were treated by the administration of a solution of sodium chloride, glucose and potassium chloride intravenously, and metoclopramide intramuscularly. Five cows recovered within a short time, general condition, appetite and defecation were again normal and the abomasal and ruminal function returned within three days.

  4. Filariasis in sub-Saharan immigrants attended in a health area of southern Spain: clinical and epidemiological findings.

    PubMed

    Cobo, Fernando; Cabezas-Fernández, Ma Teresa; Salas-Coronas, Joaquín; Cabeza-Barrera, Ma Isabel; Vázquez-Villegas, José; Soriano-Pérez, Manuel J

    2015-02-01

    Filariasis is still an endemic disease in several countries worldwide. Patients with mansonellosis result in only relatively mild symptoms, but these infections could produce many visits to health care providers. In Spain, this infection is imported due to the increase of immigrant population reaching our country during last years. The health area of the Hospital of Poniente has a rate of immigrants around to 20%, with a high percentage coming from sub-Saharan countries, being Mansonella perstans the main filarial infection in the majority of cases. In the protocol for the immigrants, it has been included the diagnosis of filarial infections in order to treat them. This manuscript describes epidemiological and clinical aspects of patients with this kind of infection. PMID:23881533

  5. Pregnancy-Related Group A Streptococcal Infections: Temporal Relationships Between Bacterial Acquisition, Infection Onset, Clinical Findings, and Outcome

    PubMed Central

    Hamilton, Stephanie M.; Stevens, Dennis L.; Bryant, Amy E.

    2013-01-01

    Puerperal sepsis caused by group A Streptococcus (GAS) remains an important cause of maternal and infant mortality worldwide, including countries with modern antibiotic regimens, intensive care measures and infection control practices. To provide insights into the genesis of modern GAS puerperal sepsis, we reviewed the published cases and case series from 1974 to 2009, specifically seeking relationships between the likely source of pathogen acquisition, clinical signs, and symptoms at infection onset and patient outcomes that could provide clues for early diagnosis. Results suggest that the pathogenesis of pregnancy-related GAS infections in modern times is complex and not simply the result of exposure to GAS in the hospital setting. Additional research is needed to further explore the source of GAS, the specific M types involved, and the pathogenesis of these pregnancy-related infections to generate novel preventative and therapeutic strategies. PMID:23645851

  6. The association between clinical symptoms, laboratory findings and serum endothelin 1 concentrations, in cirrhotic patients with and without hepatopulmonary syndrome

    PubMed Central

    Khoshbaten, Manouchehr; Ansarin, Khalil; Fatemi, Reza; Dulaimi, David Al; Derakhshan, Faramarz; Jafarinia, Nagmeh; Barford, Sophie; Zali, Mohammad Reza

    2012-01-01

    Aim This study evaluated the association between serum endothelin- 1 level and symptoms, clinical examination, laboratory and cardio-respiratory parameters, in patients with cirrhosis compared to controls. Background Cirrhosis is associated with significant portal, pulmonary and systemic vascular abnormities. Recent studies have suggested that endothelin -1 may have a significant role in the regulation of vascular tone. Patients and methods In this case – control study, subjects that had been evaluated and diagnosed with biopsy-proven cirrhosis and age-matched controls with no evidence of cardio-vascular or liver disease were recruited. Review of medical records, routine laboratory investigations and cardio-respiratory investigations including echocardiography to look for evidence of hepato-pulmonary syndrome were performed. Results 50 patients were subjects were recruited. The most common aetiology of the cirrhosis was chronic hepatitis B viral infection. 7/50 cases had evidence of the hepatopulmonary syndrome. Among the patients with evidence of the hepatopulmonary syndrome, dyspnoea (100%) and cyanosis (90%) were the most common of the symptoms and signs recorded. Pao2 and arterial – alveolar oxygen gradients were the most sensitive tests in the diagnosis of hepatopulmonary syndrome. Orthodoxy specificity was 100%. The median concentration of serum endothelin-1 in cases with hepatopulmonary syndrome was 1.06+/- 0.015 pg/ml (range 0.92 – 1.21), in cases of sub-clinical hepatopulmonary syndrome, 2.49+/- 0.08 (4.05- 0.93) in patients with cirrhosis but no evidence of hepatopulmonary syndrome criteria 0.85+/-0.74(1.06-0.64) in controls. Conclusion There was a significant difference in serum endothelin- 1 levels between patients with cirrhosis and controls, but not between patients with cirrhosis complicated by hepatopulmonary syndrome and controls. PMID:24834232

  7. 5α-Reductase-2 Deficiency: Clinical Findings, Endocrine Pitfalls, and Genetic Features in a Large Italian Cohort.

    PubMed

    Bertelloni, Silvano; Baldinotti, Fulvia; Russo, Gianni; Ghirri, Paolo; Dati, Eleonora; Michelucci, Angela; Moscuzza, Francesca; Meroni, Silvia; Colombo, Ilaria; Sessa, Maria R; Baroncelli, Giampiero I

    2016-01-01

    Clinical records (n = 24) with an established diagnosis of 5α-reductase-2 deficiency were reviewed. A previous misdiagnosis was present in about 70% (period from first observation to definitive diagnosis: 9.1 ± 10.8 years), and in 8 children gonadal removal was performed before certain diagnosis. Initial sex assignment was female in 16/24 (67%) and male in 8/24 (33%) cases. After diagnosis, sex re-assignment was performed in 5 babies (4 girls to male sex; 1 boy to female sex). Baseline testosterone/DHT ratio was diagnostic in 6/12 subjects (first months of life n = 4; puberty n = 2), while post-hCG testosterone/DHT ratio was diagnostic in all tested individuals (choosing both the cut-off value 15 or 10). Eighteen different mutations in the steroid-5α-reductase-2 (SRD5A2) gene were identified, 5 of which have never been reported. In conclusion, a time lag exists before the diagnosis of 5α-reductase-2 deficiency is established; sex assignment and gonadal removal may be performed before certain diagnosis. Sex re-assignment is usually female to male, but the contrary may occur. A large variability in clinical phenotypes and genetic mutations was present in this cohort. Accurate endocrine evaluation is recommended in babies possibly affected by 5α-reductase-2 deficiency, since the use of appropriate cut-off values of testosterone/DHT ratio after hCG stimulation may permit to select individuals for SRD5A2 gene analysis. A genotype-phenotype correlation was not found in this study.

  8. Marek's disease virus isolates with unusual tropism and virulence for ocular tissues: clinical findings, challenge studies and pathological features.

    PubMed

    Ficken, M D; Nasisse, M P; Boggan, G D; Guy, J S; Wages, D P; Witter, R L; Rosenberger, J K; Nordgren, R M

    1991-09-01

    Outbreaks of Marek's disease (MD) were diagnosed in two flocks from the same company. Clinical signs, mainly blindness (>90%), but also depression, mild paralysis, and 11 to 12% mortality by 20 weeks of age were observed. MD virus, serotype 1 was isolated. The isolates were designated NC-1 (flock 1) and NC-2 (flock 2). Challenge experiments were conducted with these isolates and with two reference MD virus strains (JM/102W and Md5) in unvaccinated, turkey herpesvirus- (HVT) vaccinated and bivalent- (HVT and SB-1) vaccinated chickens. Blindness, gross ocular lesions and tumour formation were observed in a high proportion of all groups challenged with NC-1 and NC-2 when compared with chickens challenged with JM/102W and Md5. In chickens challenged with isolates NC-1 and NC-2, corneal changes included oedema, midstromal cellular infiltration consisting of macrophages, lymphocytes, plasma cells and lesser numbers of heterophils, collagen degeneration and keratic precipitates consisting primarily of macrophages covering the central endothelium. Eosinophilic intranuclear inclusion bodies were present in mononuclear cells infiltrating the cornea. Changes in the uveal tract consisted of inflammatory cell infiltrates similar to those present in the cornea. Retinal lesions included disruption of the retinal pigmented epithelium, inflammatory cell infiltration in the subretinal space, photoreceptor degeneration and in severely affected eyes, necrosis of retinal cellular elements. Pecten changes consisted of necrosis and mononuclear cell infiltration. Intranuclear inclusion bodies were abundantly present in cells of the retina's ganglion and inner nuclear cell layers. The unusual clinical manifestation of MD, the unusual tropism and virulence of NC-1 and NC-2 for ocular tissues and the incomplete protection afforded by conventional vaccination suggest that these isolates may be new pathotypes.

  9. Efficacy of a classical antiobesity Unani pharmacopial formulation (Safoof-e-Muhazzil) in systolic and diastolic blood pressure: A randomized, open-labeled, controlled clinical study

    PubMed Central

    Khan, Asim Ali; Jahangir, Umar; Jalees, Farhan; Kapoor, Prem; Urooj, Shaista

    2013-01-01

    The aim of this study is to evaluate the efficacy of a Unani formulation in hypertension. A total of 90 patients with total cholesterol level of more than 220 mg/dl with associated conditions were included in this study. A total of 30 patients having a mean systolic blood pressure (BP) of 133.86 mmHg comprising Group A received Unani formulation Safoof-e-Muhazzil (SM) in its classical powder form in the dose of 5 g twice a day orally. Group B comprising of 30 patients with a mean systolic BP of 133.13 mmHg received same drug, but in compressed tablet form in the same dosage, whereas, 30 patients comprising Group C with a mean systolic BP of 129.45 mmHg, received Atorvastatin 10 mg as a standard control. Patients were evaluated on each follow-up at 2nd, 4th and 6th week. The mean systolic BP in Group A and B before treatment was 133.86 ± 3.028 mmHg and 133.13 ± 2.852 mmHg, which significantly decreased to 119.33 ± 1.922 mmHg (P < 0.001) and 119 ± 1.760 mmHg (P < 0.001) respectively. In the control Group C before treatment BP was 129.45 ± 2.499 mmHg and after treatment it significantly decreased to 124.34 ± 1.794 mmHg (P < 0.01). The percentage change after treatment was 10.85%, 10.61% and 3.94% respectively in each group. Mean diastolic BP in Group A and B before treatment was 85.06 ± 2.11 mmHg and 84.56 ± 1.5 mmHg, which significantly decreased to 79.06 ± 1.56 mmHg (P < 0.001) and 79.96 ± 1.15 mmHg (P < 0.001) respectively, BP before treatment in Group C was 83.23 ± 1.588 mmHg, which was decreased to 124.34 ± 1.794 mmHg (P < 0.01). The study results indicate that the test drug was quite effective in reducing both systolic as well as diastolic BP. PMID:24350049

  10. The role of US in the evaluation of clinically suspected ulnar collateral ligament injuries of the thumb: spectrum of findings and differential diagnosis.

    PubMed

    Arend, Carlos F; da Silva, Tiago R

    2014-09-01

    Injury to the ulnar collateral ligament (UCL) complex of the thumb is a common traumatic lesion that requires prompt imaging evaluation for adequate treatment. In this article, we review the role of ultrasound in diagnosis and illustrate the spectrum of both static and dynamic findings related to the UCL injuries. We also describe a number of alternative diagnoses in the vicinity of the first metacarpophalangeal joint that may present clinically as pseudoligamentous lesions in a trauma setting.

  11. Feline cholecystitis and acute neutrophilic cholangitis: clinical findings, bacterial isolates and response to treatment in six cases.

    PubMed

    Brain, Philip H; Barrs, Vanessa R; Martin, Patricia; Baral, Randolph; White, Joanna D; Beatty, Julia A

    2006-04-01

    Clinicopathological findings from six cats with confirmed cholecystitis or acute neutrophilic cholangitis are presented. Historical findings included lethargy and anorexia or inappetence of up to five days duration. On physical examination all cats were pyrexic and four out of six were jaundiced and had cranial abdominal pain. Bile samples were obtained by cholecystocentesis at exploratory coeliotomy (two cases) or by percutaneous, ultrasound-guided cholecystocentesis (four cases). Gall bladder rupture and bile peritonitis occurred subsequent to ultrasound-guided cholecystocentesis in one case. The most common bacterial isolate was Escherichia coli (four cases); E coli was isolated alone in two cases, in combination with a Streptococcus species (one case) and in combination with a Clostridium species (one case). Streptococcus species alone was isolated from one case, as was Salmonella enterica serovar Typhimurium. The latter is the first reported case of Salmonella-associated cholecystitis in a cat. Concurrent pancreatic or intestinal disease was detected histologically in three cases. All cases were treated with antimicrobials based on in vitro susceptibility results. Treatment was successful in five cases. One cat with concurrent diffuse epitheliotropic intestinal lymphoma was euthanased. Percutaneous ultrasound-guided cholecystocentesis is an effective, minimally-invasive technique enabling identification of bacterial isolates in cats with inflammatory hepatobiliary disease.

  12. JC Virus PCR Detection Is Not Infallible: A Fulminant Case of Progressive Multifocal Leukoencephalopathy with False-Negative Cerebrospinal Fluid Studies despite Progressive Clinical Course and Radiological Findings

    PubMed Central

    Babi, Mohamed-Ali; Pendlebury, William; Braff, Steven; Waheed, Waqar

    2015-01-01

    We describe a case with a false-negative PCR-based analysis for JC virus in cerebrospinal fluid (CSF) in a patient with clinical and radiological findings suggestive of progressive multifocal leukoencephalopathy (PML) who was on chronic immunosuppressive therapy for rheumatoid arthritis. Our patient developed rapidly progressive global decline with clinical and radiographic findings suggestive of PML, but JC virus PCR in CSF was negative. The patient passed away 3 months from the onset of her neurological symptoms. Autopsy confirmed the diagnosis of PML with presence of JC-polyoma virus by immunohistochemical staining. This case highlights the potential of false-negative JC virus PCR in CSF when radiographic and clinical features are suggestive of “possible PML.” We review the plausible causes of potential false-negative CSF results and suggest that when the clinical presentation is suspicious for PML repeat CSF analysis utilizing ultrasensitive PCR assay and subsequent brain biopsy should be considered if CSF remains negative. Additionally, appropriate exclusion of other neurologic conditions is essential. PMID:25861493

  13. The contribution of recent NSABP clinical trials of primary breast cancer therapy to an understanding of tumor biology--an overview of findings.

    PubMed

    Fisher, B; Redmond, C; Fisher, E R

    1980-08-15

    Disagreement about local-regional management of primary breast cancer is related to differences in perception of the biology of the disease. Other factors are secondary and obscure the reality that all treatment must be related to biological considerations; otherwise, the basis for therapy is relegated to speculation and to personal experience. As a result of extensive laboratory and clinical studies during the past two decades, there has arisen an altered concept of cancer biology. The National Surgical Adjuvant Project for Breast and Bowel Cancers (NSABP) has made a major contribution to the change through findings from a series of prospective randomized clinical trials. That group of American and Canadian investigators has implemented a series of trials aimed at answering biological as well as clinical questions. Those studies have not only been concerned with defining proper local-regional treatment but have also pointed out the need for, and value of, systemic therapy when used in conjunction with operation. This report will provide an overview of past and present NSABP contributions and will consider those findings in relation to observations from other clinical trials of pertinence. It will emphasize that controversies concerning breast cancer management are related to biological issues that cannot be resolved by "populism" or appeals to emotion. PMID:6994873

  14. Brain MRI abnormalities and spectrum of neurological and clinical findings in three patients with proximal 16p11.2 microduplication.

    PubMed

    Filges, Isabel; Sparagana, Steven; Sargent, Michael; Selby, Kathryn; Schlade-Bartusiak, Kamilla; Lueder, Gregg T; Robichaux-Viehoever, Amy; Schlaggar, Bradley L; Shimony, Joshua S; Shinawi, Marwan

    2014-08-01

    The phenotype of recurrent ∼600 kb microdeletion and microduplication on proximal 16p11.2 is characterized by a spectrum of neurodevelopmental impairments including developmental delay and intellectual disability, epilepsy, autism and psychiatric disorders which are all subject to incomplete penetrance and variable expressivity. A variety of brain MRI abnormalities were reported in patients with 16p11.2 rearrangements, but no systematic correlation has been studied among patients with similar brain anomalies, their neurodevelopmental and clinical phenotypes. We present three patients with the proximal 16p11.2 microduplication exhibiting significant developmental delay, anxiety disorder and other variable clinical features. Our patients have abnormal brain MRI findings of cerebral T2 hyperintense foci (3/3) and ventriculomegaly (2/3). The neuroradiological or neurological findings in two cases prompted an extensive diagnostic work-up. One patient has exhibited neurological regression and progressive vision impairment and was diagnosed with juvenile neuronal ceroid-lipofuscinosis. We compare the clinical course and phenotype of these patients in regard to the clinical significance of the cerebral lesions and the need for MRI surveillance. We conclude that in all three patients the lesions were not progressive, did not show any sign of malignant transformation and could not be correlated to specific clinical features. We discuss potential etiologic mechanisms that may include overexpression of genes within the duplicated region involved in control of cell proliferation and complex molecular mechanisms such as the MAPK/ERK pathway. Systematic studies in larger cohorts are needed to confirm our observation and to establish the prevalence and clinical significance of these neuroanatomical abnormalities in patients with 16p11.2 duplications. PMID:24891046

  15. Classic-Ada(TM)

    NASA Technical Reports Server (NTRS)

    Valley, Lois

    1989-01-01

    The SPS product, Classic-Ada, is a software tool that supports object-oriented Ada programming with powerful inheritance and dynamic binding. Object Oriented Design (OOD) is an easy, natural development paradigm, but it is not supported by Ada. Following the DOD Ada mandate, SPS developed Classic-Ada to provide a tool which supports OOD and implements code in Ada. It consists of a design language, a code generator and a toolset. As a design language, Classic-Ada supports the object-oriented principles of information hiding, data abstraction, dynamic binding, and inheritance. It also supports natural reuse and incremental development through inheritance, code factoring, and Ada, Classic-Ada, dynamic binding and static binding in the same program. Only nine new constructs were added to Ada to provide object-oriented design capabilities. The Classic-Ada code generator translates user application code into fully compliant, ready-to-run, standard Ada. The Classic-Ada toolset is fully supported by SPS and consists of an object generator, a builder, a dictionary manager, and a reporter. Demonstrations of Classic-Ada and the Classic-Ada Browser were given at the workshop.

  16. The Need for Classics

    ERIC Educational Resources Information Center

    Kilburn, K.

    1975-01-01

    Criticizes traditional reasons for Classics study and states that education is the initiation of a new generation into the skills and knowledge structures of an existing tradition. Aesthetics and philosophy, religion and morals, knowledge of self and others, and mathematics and science may be understood through Classics.

  17. [Pollionosis: I. Findings on the clinical aspects and the pollen spectrum in 1565 pollen-sensitive patients].

    PubMed

    Wüthrich, B; Annen, H

    1979-09-01

    Case histories are analyzed of 1565 hay fever patients first attending an allergy unit. The mean age of the test persons was 19.5 years. 40% were in the age group 5 to 15 years. The sex distribution showed a slight but statistically significant prevalence of males (56.6%). 56.8% had a positive family history of allergies and 44.2% had other allergic conditions such as atopic dermatitis (31.6%), perennial rhinitis and perennial asthma (19% each), urticaria, food allergy and drug allergy (5% each) and insect sting allergy (3%). A clear cut peak both for rhinitis and for asthmatic symptoms %30.5% and 20.2% respectively) was found in the age group 5--9 years. Up to the 14th year the symptoms of pollen allergy were already exhibited by 68.5% of the patients. 97% of the pollen allergics suffered from rhinitis, 95% from conjunctivitis, 40% from bronchial asthma and another 20% from tracheobronchitis or asthmatic bronchitis. As additional symptoms of pollen allergy due to haematogenous spread of the pollen antigens we observed a seasonal form of atopic dermatitis in 3%, a seasonal urticaria or angioedema in 3.5%, migraine in 6.3% and arthralgia, gastro-intestinal troubles and fever in fewer than 1% each. Almost 98% of the patients were sensitized to grass or cereal pollens. However, only 18% suffered from an isolated grass pollinosis (summer hay fever). The other patients were additionally clinically sensitized by other pollens with different blossoming periods, i.e. 35% by three pollens responsible for the so-called spring pollinosis, and 50% by weeds (plantain, nettle, mugwort) the cause of late summer pollinosis. Only 13 patients suffered from an isolated spring pollinosis (hazel, alder, birch, willow). In 14 patients (not quite 1%) with a clear-cut history and clinical symptoms of pollinosis, all the skin tests were negative. In these cases the sensitization was probably restricted to the respiratory tract. Despite the new in-vitro methods such as the RAST, carefully

  18. Minimizing liability risks under the ACMG recommendations for reporting incidental findings in clinical exome and genome sequencing

    PubMed Central

    Evans, Barbara J.

    2014-01-01

    Recent recommendations by the American College of Medical Genetics and Genomics (ACMG) for reporting incidental findings present novel ethical and legal issues. This article expresses no views on the ethical aspects of these recommendations and focuses strictly on liability risks and how to minimize them. The recommendations place labs and clinicians in a new liability environment that exposes them to intentional tort lawsuits as well to traditional suits for negligence. Intentional tort suits are especially troubling because of their potential to inflict ruinous personal financial losses on individual clinicians and laboratory personnel. This article surveys this new liability landscape and describes analytical approaches for minimizing tort liabilities. To a considerable degree, liability risks can be controlled by structuring activities in ways that make future lawsuits nonviable before the suits ever arise. Proactive liability analysis is an effective tool for minimizing tort liabilities in connection with the testing and reporting activities that the ACMG recommends. PMID:24030435

  19. Effects of Stellate Ganglion Block on Vasomotor Symptoms: Findings from a Randomized, Controlled Clinical Trial in Postmenopausal Women

    PubMed Central

    Walega, David R.; Rubin, Leah H.; Banuvar, Suzanne; Shulman, Lee P.; Maki, Pauline M.

    2014-01-01

    Objective Uncontrolled intervention studies, including studies involving breast cancer survivors, have demonstrated improvements in vasomotor symptoms (VMS) following stellate ganglion blockade (SGB) with local anesthetic. This study presents the first randomized, sham-controlled trial of SGB for the treatment of VMS. Methods Participants included 40 postmenopausal women aged 30 to 70 years with moderate-to-severe VMS. The design was a randomized, sham-controlled trial comparing the effect of SGB versus sham injection on the frequency of total and moderate-to-severe VMS as measured by daily diaries. Image-guided SGB was performed with 0.5% bupivacaine 5 mL. Sham injection of saline was performed in the subcutaneous tissue in the neck. VMS were recorded at baseline and for six months thereafter. Objective VMS were recorded using ambulatory sternal skin conductance monitoring over a 24-hour period at baseline and 3-month follow-up. Results There were no significant group differences in overall VMS frequency, but the frequency of moderate-to-very severe VMS was reduced more in the active compared to sham treatment group, RR 0.50, CI 0.35–0.71, p<0.001. The frequency of objective VMS was also reduced to a greater degree in the SGB group compared to the sham group (RR 0.71, CI 0.64–0.99, p<0.05). There were no study-related serious adverse events. Conclusions SGB may provide an effective treatment for VMS in women who seek non-hormonal therapies due to safety concerns and personal preference. The finding that SGB significantly reduces objectively measured VMS provides further evidence of efficacy. A larger trial is warranted to confirm these findings. PMID:24496086

  20. Choledocholithiasis in African American and Hispanic patients: a comparison between painless presentation and classical biliary pain with regards to clinical manifestations and outcomes.

    PubMed

    Akhtar, Abbasi J; Akhtar, Aslam A; Padda, Manmeet S

    2014-06-01

    Choledocholithiasis (CDL) usually presents with biliary pain. Painless CDL is also known to occur, especially in the elderly. The purpose of this study is to determine whether the mode of presentation (painful vs. painless) influences the clinical course and outcomes of CDL in African American and Hispanic patients. Ten years of admission and discharge records (January 1998-December 2007) were reviewed retrospectively, yielding 527 community hospital patients, aged 23-97 years, with the final diagnosis of CDL. Patients with painless presentation had higher odds of having comorbidities compared to patients presenting with pain. However, patients who presented with biliary pain were predominantly younger (mean age 34 years), and 59% were Hispanic females (p = 0.001). In our study painless CDL was associated with higher morbidity and mortality.

  1. Subtelomeric 6p25 deletion/duplication: Report of a patient with new clinical findings and genotype-phenotype correlations.

    PubMed

    Linhares, Natália D; Svartman, Marta; Rodrigues, Tatiane C; Rosenberg, Carla; Valadares, Eugênia R

    2015-05-01

    The 6p terminal deletions are rare and present variability of clinical features, which increases the importance of reporting additional cases in order to better characterize genotype-phenotype correlations. We report a 12-year-old girl with a de novo deletion in 6p25.1-pter characterized by high-resolution karyotyping and FISH. Further analysis using oligonucleotide array-CGH revealed a 5.06 Mb 6p25.1-pter deletion associated with a contiguous 1 Mb 6p25.1 duplication. The patient presented normal growth, developmental delay, frontal bossing, severe hypertelorism, corectopia, wide and depressed nasal bridge, mild learning disability, hearing loss and diffuse leukopathy. Additionaly, she presented peculiar phenotypic features reported herein for the first time in 6p25 deletion syndrome: cerebrospinal fluid fistula and bones resembling those seen in 3-M syndrome. The distinctive phenotype of the 6p25 deletion syndrome has been mainly correlated with the FOXC1 and FOXF2 genes deletions, both related mainly to eye development. We also consider the SERPINB6 as a candidate for sensorineural hearing loss and TUBB2A as a candidate for our patient's skeletal features. In addition, as our patient had a duplication including NRN1, a gene related with neurodevelopment, synaptic plasticity and cognitive dysfunction in schizophrenia, we suggest that this gene could be associated with her white matter abnormalities and neurocognitive phenotype. PMID:25817395

  2. Subtelomeric 6p25 deletion/duplication: Report of a patient with new clinical findings and genotype-phenotype correlations.

    PubMed

    Linhares, Natália D; Svartman, Marta; Rodrigues, Tatiane C; Rosenberg, Carla; Valadares, Eugênia R

    2015-05-01

    The 6p terminal deletions are rare and present variability of clinical features, which increases the importance of reporting additional cases in order to better characterize genotype-phenotype correlations. We report a 12-year-old girl with a de novo deletion in 6p25.1-pter characterized by high-resolution karyotyping and FISH. Further analysis using oligonucleotide array-CGH revealed a 5.06 Mb 6p25.1-pter deletion associated with a contiguous 1 Mb 6p25.1 duplication. The patient presented normal growth, developmental delay, frontal bossing, severe hypertelorism, corectopia, wide and depressed nasal bridge, mild learning disability, hearing loss and diffuse leukopathy. Additionaly, she presented peculiar phenotypic features reported herein for the first time in 6p25 deletion syndrome: cerebrospinal fluid fistula and bones resembling those seen in 3-M syndrome. The distinctive phenotype of the 6p25 deletion syndrome has been mainly correlated with the FOXC1 and FOXF2 genes deletions, both related mainly to eye development. We also consider the SERPINB6 as a candidate for sensorineural hearing loss and TUBB2A as a candidate for our patient's skeletal features. In addition, as our patient had a duplication including NRN1, a gene related with neurodevelopment, synaptic plasticity and cognitive dysfunction in schizophrenia, we suggest that this gene could be associated with her white matter abnormalities and neurocognitive phenotype.

  3. PCR synthesis of double stranded DNA labeled with 5-bromouridine. A step towards finding a bromonucleoside for clinical trials.

    PubMed

    Michalska, Barbara; Sobolewski, Ireneusz; Polska, Katarzyna; Zielonka, Justyna; Zylicz-Stachula, Agnieszka; Skowron, Piotr; Rak, Janusz

    2011-12-01

    Incorporation of 5-bromouridine (5BrdU) into DNA makes it sensitive to UV and ionizing radiation, which opens up a prospective route for the clinical usage of 5-bromouridine and other halonucleosides. In the present work the polymerase chain reaction (PCR) protocol, which enables a long DNA fragment (resembling DNA synthesized in the cell in the presence of halonucleosides) to be completely substituted with 5BrdU, was optimized. Using HPLC coupled to enzymatic digestion, it was demonstrated that the actual amounts of native nucleosides and 5BrdU correspond very well to those calculated from the sequence of PCR products. The synthesized DNA is photosensitive to photons of 300nm. HPLC analysis demonstrated that the photolysis of labeled PCR products leads to a significant decrease in the 5BrdU signal and the simultaneous occurrence of a uridine peak. Agarose and polyacrylamide gel electrophoresis suggest that single strand breaks and cross-links are formed as a result of UV irradiation. The PCR protocol described in the current paper may be employed for labeling DNA not only with BrdU but also with other halonucleosides.

  4. Unique impacts of HBV co-infection on clinical and laboratory findings in a recent dengue outbreak in China.

    PubMed

    Tang, Yangbo; Kou, Zhihua; Tang, Xiaoping; Zhang, Fuchun; Yao, Xian; Liu, Shengyong; Jin, Xia

    2008-08-01

    High prevalence of hepatitis B virus (HBV) infection in China offers a unique setting to examine HBV's influence on the presentation of dengue fever. In 398 patients admitted for suspected dengue fever, 89% (353/398) were positive for dengue IgM antibodies. Among dengue-infected patients, 8% (29/353) had chronic HBV co-infection. Only dengue virus serotype 1 was identified by virus isolation and reverse transcriptase-polymerase chain reaction assays. No case of dengue hemorrhagic fever/dengue shock syndrome was diagnosed. In addition to routine clinical tests, interleukin 2 (IL-2), IL-4, IL-6, IL-10, interferon gamma (IFNgamma), and tumor necrosis factor alpha (TNFalpha) levels were measured in the sera of 95% (334/353) of dengue-infected subjects as well as controls. Surprisingly, HBV/dengue co-infected patients made less IL-6 (P < 0.05) and TNFalpha (P < 0.05) than patients with only dengue infection. Similar levels of IL-4, IL-10, and IFNgamma were found in both groups. Thus, HBV co-infection seems to alter the cytokine production pattern when patients contract dengue infection.

  5. Clinico Hemato Biochemical Findings, Clinical Management, and Production Performance of Bovines with Late Pregnancy Indigestion (Type IV Vagal Indigestion).

    PubMed

    Hussain, Syed Ashaq; Uppal, Sanjeev Kumar; Sood, Naresh Kumar; Mahajan, Shashi Kant

    2014-01-01

    This prospective study was conducted on 15 animals (eight buffaloes and seven cows), diagnosed with late pregnancy indigestion. Ten buffaloes and 10 cows served as the control group. The animals were in advanced pregnancy and had partial or complete anorexia, reduced water intake, loss of defecation or scanty faecal output, and mild to moderate dehydration. Heart and respiration rates were increased and rumen motility was reduced. Five animals had persistent tympany and moderate distension of left abdomen, and two animals each had bilateral abdominal distension and papple shaped abdomen. Neutrophil and lymphocyte counts were significantly higher and lower than the control values. Total bilirubin, AST, total protein, globulin, BUN, glucose, and lactate were significantly higher, and chloride and calcium were significantly lower than the control values. Levels of ALP, GGT, albumin, creatinine, cholesterol, triglyceride, fibrinogen, fibrinogen ratio, sodium, potassium, phosphorus, and magnesium did not differ significantly from the control values. Rumen chloride concentration was higher than the reference range. Majority of animals were managed symptomatically until parturition. There was no effect on fetal survival or milk yield in current and subsequent lactation. So, late pregnancy indigestion causes clinical and hemato biochemical alterations which require special consideration when treating diseased animals.

  6. Effect of early exposure on the integration of dental implants in the baboon: Part 1--Clinical findings at uncovering.

    PubMed

    Severson, S; Vernino, A R; Caudill, R; Holt, R; Church, C; Davis, A

    2000-04-01

    There has been increased discussion on the advantages of a one- versus a two-stage surgical approach in the placement of dental endosseous implants. This study evaluated the influence of early implant exposure on crestal bone height adjacent to the implant surface and Periotest values at uncovering in the baboon. Forty-eight implants (24 commercially pure titanium, 24 titanium alloy) were placed in maxillary and mandibular posterior sites in 6 baboons. Implant exposure was evaluated weekly for 3 weeks after implant placement. The level of bone adjacent to the dental implants was measured at placement from the top of the implant collar to the crest of the bone at the mesial, distal, buccal, and lingual surfaces. The maxillary sites were measured again at a 6-month uncovering, while the mandibular sites were measured at a 3-month uncovering. Periotest readings were also recorded at uncovering. Early implant exposure was more common in the mandible, with the majority occurring by the second week postplacement. There were no significant differences in the crestal bone height changes at uncovering between the pure titanium and alloy implants in either arch. In the maxilla, the changes in crestal bone height were not statistically different between exposed and nonexposed implants at any aspect. In the mandible, the difference in 3-month changes between exposed and nonexposed implants was significant for the distal, buccal, and lingual aspects. The overall percentage of implants with a Periotest reading in the "good" category was greater for the nonexposed sites as compared to exposed sites. The results of this study suggest that the two-stage surgical approach results in a better clinical outcome as compared to the one-stage approach in the baboon model.

  7. Clinical, instrumental, serological and histological findings suggest that hemophilia B may be less severe than hemophilia A

    PubMed Central

    Melchiorre, Daniela; Linari, Silvia; Manetti, Mirko; Romano, Eloisa; Sofi, Francesco; Matucci-Cerinic, Marco; Carulli, Christian; Innocenti, Massimo; Ibba-Manneschi, Lidia; Castaman, Giancarlo

    2016-01-01

    Recent evidence suggests that patients with severe hemophilia B may have a less severe disease compared to severe hemophilia A. To investigate clinical, radiological, laboratory and histological differences in the arthropathy of severe hemophilia A and hemophilia B, 70 patients with hemophilia A and 35 with hemophilia B with at least one joint bleeding were consecutively enrolled. Joint bleedings (<10, 10–50, >50), regimen of treatment (prophylaxis/on demand), World Federation of Hemophilia, Pettersson and ultrasound scores, serum soluble RANK ligand and osteoprotegerin were assessed in all patients. RANK, RANK ligand and osteoprotegerin expression was evaluated in synovial tissue from 18 hemophilia A and 4 hemophilia B patients. The percentage of patients with either 10–50 or more than 50 hemarthrosis was greater in hemophilia A than in hemophilia B (P<0.001 and P=0.03, respectively), while that with less than 10 hemarthrosis was higher in hemophilia B (P<0.0001). World Federation of Hemophilia (36.6 vs. 20.2; P<0.0001) and ultrasound (10.9 vs. 4.3; P<0.0001) score mean values were significantly higher in hemophilia A patients. Serum osteoprotegerin and soluble RANK ligand were decreased in hemophilia A versus hemophilia B (P<0.0001 and P=0.006, respectively). Osteoprotegerin expression was markedly reduced in synovial tissue from hemophilia A patients. In conclusion, the reduced number of hemarthrosis, the lower World Federation of Hemophilia and ultrasound scores, and higher osteoprotegerin expression in serum and synovial tissue in hemophilia B suggest that hemophilia B is a less severe disease than hemophilia A. Osteoprotegerin reduction seems to play a pivotal role in the progression of arthropathy in hemophilia A. PMID:26494839

  8. Clinical, instrumental, serological and histological findings suggest that hemophilia B may be less severe than hemophilia A.

    PubMed

    Melchiorre, Daniela; Linari, Silvia; Manetti, Mirko; Romano, Eloisa; Sofi, Francesco; Matucci-Cerinic, Marco; Carulli, Christian; Innocenti, Massimo; Ibba-Manneschi, Lidia; Castaman, Giancarlo

    2016-02-01

    Recent evidence suggests that patients with severe hemophilia B may have a less severe disease compared to severe hemophilia A. To investigate clinical, radiological, laboratory and histological differences in the arthropathy of severe hemophilia A and hemophilia B, 70 patients with hemophilia A and 35 with hemophilia B with at least one joint bleeding were consecutively enrolled. Joint bleedings (<10, 10-50, >50), regimen of treatment (prophylaxis/on demand), World Federation of Hemophilia, Pettersson and ultrasound scores, serum soluble RANK ligand and osteoprotegerin were assessed in all patients. RANK, RANK ligand and osteoprotegerin expression was evaluated in synovial tissue from 18 hemophilia A and 4 hemophilia B patients. The percentage of patients with either 10-50 or more than 50 hemarthrosis was greater in hemophilia A than in hemophilia B (P<0.001 and P=0.03, respectively), while that with less than 10 hemarthrosis was higher in hemophilia B (P<0.0001). World Federation of Hemophilia (36.6 vs. 20.2; P<0.0001) and ultrasound (10.9 vs. 4.3; P<0.0001) score mean values were significantly higher in hemophilia A patients. Serum osteoprotegerin and soluble RANK ligand were decreased in hemophilia A versus hemophilia B (P<0.0001 and P=0.006, respectively). Osteoprotegerin expression was markedly reduced in synovial tissue from hemophilia A patients. In conclusion, the reduced number of hemarthrosis, the lower World Federation of Hemophilia and ultrasound scores, and higher osteoprotegerin expression in serum and synovial tissue in hemophilia B suggest that hemophilia B is a less severe disease than hemophilia A. Osteoprotegerin reduction seems to play a pivotal role in the progression of arthropathy in hemophilia A.

  9. Clinical and genetic findings in a Chinese family with VDR-associated hereditary vitamin D-resistant rickets

    PubMed Central

    Pang, Qianqian; Qi, Xuan; Jiang, Yan; Wang, Ou; Li, Mei; Xing, Xiaoping; Dong, Jin; Xia, Weibo

    2016-01-01

    Hereditary vitamin D-resistant rickets (HVDRR) is a rare autosomal recessive disorder characterized by severe rickets, hypocalcemia, hypophosphatemia, secondary hyperparathyroidism, and elevated alkaline phosphatase. This disorder is caused by homogeneous or heterogeneous mutations affecting the function of the vitamin D receptor (VDR), which lead to complete or partial target organ resistance to the action of 1,25-dihydroxy vitamin D. A non-consanguineous family of Chinese Han origin with one affected individual demonstrating HVDRR was recruited, with the proband evaluated clinically, biochemically and radiographically. To identify the presence of mutations in the VDR gene, all the exons and exon–intron junctions of the VDR gene from all family members were amplified using PCR and sequenced. The proband showed rickets, progressive alopecia, hypocalcemia, hypophosphatemia, secondary hyperparathyroidism, and elevated alkaline phosphatase. She also suffered from epilepsy, which is rarely seen in patients with HVDRR. Direct sequencing analysis revealed a homozygous missense mutation c.122G>A (p.C41Y) in the VDR gene of the proband, which is located in the first zinc finger of the DNA-binding domain. Both parents had a normal phenotype and were found to be heterozygous for this mutation. We report a Chinese Han family with one individual affected with HVDRR. A homozygous missense mutation c.122G>A (p.C41Y) in the VDR gene was found to be responsible for the patient’s syndrome. In contrast to the results of treatment of HVDRR in other patients, our patient responded well to a supplement of oral calcium and a low dose of calcitriol. PMID:27408766

  10. Clinical and genetic findings in a Chinese family with VDR-associated hereditary vitamin D-resistant rickets.

    PubMed

    Pang, Qianqian; Qi, Xuan; Jiang, Yan; Wang, Ou; Li, Mei; Xing, Xiaoping; Dong, Jin; Xia, Weibo

    2016-01-01

    Hereditary vitamin D-resistant rickets (HVDRR) is a rare autosomal recessive disorder characterized by severe rickets, hypocalcemia, hypophosphatemia, secondary hyperparathyroidism, and elevated alkaline phosphatase. This disorder is caused by homogeneous or heterogeneous mutations affecting the function of the vitamin D receptor (VDR), which lead to complete or partial target organ resistance to the action of 1,25-dihydroxy vitamin D. A non-consanguineous family of Chinese Han origin with one affected individual demonstrating HVDRR was recruited, with the proband evaluated clinically, biochemically and radiographically. To identify the presence of mutations in the VDR gene, all the exons and exon-intron junctions of the VDR gene from all family members were amplified using PCR and sequenced. The proband showed rickets, progressive alopecia, hypocalcemia, hypophosphatemia, secondary hyperparathyroidism, and elevated alkaline phosphatase. She also suffered from epilepsy, which is rarely seen in patients with HVDRR. Direct sequencing analysis revealed a homozygous missense mutation c.122G>A (p.C41Y) in the VDR gene of the proband, which is located in the first zinc finger of the DNA-binding domain. Both parents had a normal phenotype and were found to be heterozygous for this mutation. We report a Chinese Han family with one individual affected with HVDRR. A homozygous missense mutation c.122G>A (p.C41Y) in the VDR gene was found to be responsible for the patient's syndrome. In contrast to the results of treatment of HVDRR in other patients, our patient responded well to a supplement of oral calcium and a low dose of calcitriol.

  11. Clinical and Laboratory Findings in a Trial of Norgestrel, a Low-dose Progestogen-only Contraceptive

    PubMed Central

    Eckstein, P.; Wh