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Sample records for classical clinical findings

  1. Exercise hemorheology: classical data, recent findings and unresolved issues.

    PubMed

    Connes, Philippe; Simmonds, Michael J; Brun, Jean-Frederic; Baskurt, Oguz K

    2013-01-01

    The present review focuses on the past and recent knowledge in the field of exercise hemorheology and presents some unresolved issues for opening discussion. Acute exercise is associated with a rise in hematocrit which results in an increase in blood viscosity. Whereas increased blood viscosity was previously viewed as having negative consequences for cardiovascular function and aerobic performance, recent findings suggest dynamic changes in blood viscosity might be useful for vascular function during exercise by increasing nitric oxide production. Other determinants of blood viscosity are altered by exercise (e.g., decreased red blood cell deformability, increased red blood cell aggregation and plasma viscosity) and may, independent of the associated effect on blood viscosity, directly modulate aerobic capacity. However, the data published on the effects of exercise on the hemorheology are not consistent, with some studies showing decreased, unchanged, or increased red blood cell deformability/aggregation when compared with rest. These discrepancies seem to be related to the exercise protocol investigated, the population tested or the methodogy utilized for hemorheological measurements. Finally, this review focuses on the effects of exercise training (i.e. chronic physical activity) on the hemorheological profile of healthy individuals and patients with cardiovascular and metabolic disorders.

  2. Clinical exuberance of classic Kaposi's sarcoma and response to radiotherapy.

    PubMed

    Trujillo, Jeniffer Muñoz; Alves, Natália Ribeiro de Magalhães; Medeiros, Paula Mota; Azulay-Abulafia, Luna; Alves, Maria de Fátima Guimarães Scotelaro; Gripp, Alexandre Carlos

    2015-01-01

    Kaposi's sarcoma (KS) is a multicentric vascular neoplasm, with cutaneous and extracutaneous involvement. Different clinical and epidemiological variants have been identified. The classic form is manifested mainly in elderly men with indolent and long-term evolution, with lesions localized primarily in the lower extremities. We present two cases of classic Kaposi's sarcoma (CKS) in two female patients with extensive, exuberant skin involvement and rapid evolution, with good response to radiotherapy.

  3. 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

  4. 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

  5. Multifocal Eosinophilic Granuloma of Jaws and Skull with Classical and Unusual Radiographic/Imaging Findings

    PubMed Central

    Venkata, Suman; Shaik, Sameulla; Kodadala, Amrutha; Kakarla, Prashanti

    2017-01-01

    Eosinophilic granuloma is basically a disorder of reticuloendothelial system and is one of the variants of langerhans cell histiocytosis. Multifocal eosinophilic granuloma affecting jaws and skull is relatively a rare disorder. We hereby report a case of multifocal eosinophilic granuloma involving mandible, maxilla and several skull bones. The present case has mixture of classical floating teeth appearance and an unusual radiographic/imaging finding of periosteal remodeling, which is rarely seen in adult patients of eosinophilic granuloma and pseudo-multilocular appearance in anterior mandibular region in coronal sections and moth-eaten appearance of skull was appreciated in axial slices of Computed Tomography (CT). PMID:28274065

  6. Finding a VOICE for UK clinical pharmacology

    PubMed Central

    Aronson, Jeffrey K

    2012-01-01

    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

  7. 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.

  8. 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.

  9. 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

  10. 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

  11. Clinical and radiological findings in chlorfenapyr poisoning.

    PubMed

    Tharaknath, Vemuri Rama; Prabhakar, Y V S; Kumar, K Suseel; Babu, Noorthi Kalyan

    2013-04-01

    This is a case report of suicidal ingestion of chlorfenapyr, presenting with neurological complications after a latent period of more than a week, and rapidly progressing to death within days of symptoms. Chlorfenapyr is a moderately hazardous pesticide according to World Health Organization toxicity classification, and kills target organism by depriving it of energy through interference with oxidative phosphorylation at mitochondrial level. A pro-pesticide, chlorfenapyr takes time to convert to its active form and either this active form or a toxic metabolite causes delayed neurological symptoms. It causes significant neurotoxicity in rat models. This case report provides for the first time from India (second worldwide), clinical and "radiological evidence" (magnetic resonance imaging showing demyelinating/oedematous changes) of "chlorfenapyr neurotoxicity in humans." It also highlights the "latent period" between ingestion and onset of fatal manifestations. Earlier, similar case reports of human deaths with delayed onset neurological symptoms, due to chlorfenapyr poisoning have been reported, from Japan, Columbia, and Korea.

  12. 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

  13. 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…

  14. Clinical and radiological findings in chlorfenapyr poisoning

    PubMed Central

    Tharaknath, Vemuri Rama; Prabhakar, Y. V. S.; Kumar, K. Suseel; Babu, Noorthi Kalyan

    2013-01-01

    This is a case report of suicidal ingestion of chlorfenapyr, presenting with neurological complications after a latent period of more than a week, and rapidly progressing to death within days of symptoms. Chlorfenapyr is a moderately hazardous pesticide according to World Health Organization toxicity classification, and kills target organism by depriving it of energy through interference with oxidative phosphorylation at mitochondrial level. A pro-pesticide, chlorfenapyr takes time to convert to its active form and either this active form or a toxic metabolite causes delayed neurological symptoms. It causes significant neurotoxicity in rat models. This case report provides for the first time from India (second worldwide), clinical and “radiological evidence” (magnetic resonance imaging showing demyelinating/oedematous changes) of “chlorfenapyr neurotoxicity in humans.” It also highlights the “latent period” between ingestion and onset of fatal manifestations. Earlier, similar case reports of human deaths with delayed onset neurological symptoms, due to chlorfenapyr poisoning have been reported, from Japan, Columbia, and Korea. PMID:23956576

  15. 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

  16. [Postictal psychoses: Clinical and neurobiological findings].

    PubMed

    de Toffol, B; Kanemoto, K

    2016-10-01

    antipsychotic treatment in PIP requires further studies. Despite their role in symptomatic relief, there is no clear effect of neuroleptics on duration or prognosis of PIP. Different combinations of pharmaceutical interventions can be tried on a case by case basis: (1) oral administration of benzodiazepine; (2) combined oral administration of benzodiazepine and atypical neuroleptics; (3) intramuscular administration of dopamine-blockers for rapid tranquilization of violent or agitated patients. The notion that neuroleptic drugs lower the seizure threshold has no clinical significance: there is no evidence that antipsychotic drugs increase seizure frequency in epileptic patients treated with antiepileptic drugs.

  17. 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

  18. The classic caries clinical trial: constraints and opportunities.

    PubMed

    Stamm, J W

    2004-01-01

    The history of clinical trials would include events in 1747 on board the Salisbury, a British Navy vessel at sea with 12 seamen critically ill with scurvy. Involving these 12 sailors in a study, an officer on board by the name of Lind evaluated six potential treatments for scurvy, and rapidly reached the conclusion that daily consumption of citrus fruits returned the men fit for duty in approximately six days (Bull, 1959). The concept of experimental randomization was first developed by Sir R.A. Fisher (1925, 1926), and the method was introduced to medical research via a study of tuberculosis treatment by Amberson and co-workers (1931), who randomized 24 TB patients into two groups, one to receive the experimental therapy, the other serving as the control. Amberson et al. also incorporated the concept of blinding into their study. Sir Austin Bradford Hill codified and built on the principles of scientific experimentation developed by Fisher, and introduced the use of random numbers in the allocation of patients in the British Medical Research Council (1948) study of the effect of streptomycin in the treatment of tuberculosis (Daniels and Hill, 1952; Hill, 1952). The first applications of clinical trial methodology for testing interventions on dental, oral, and maxillofacial diseases and conditions are more difficult to determine. For dental caries prevention, however, Chilton and Fertig (1958) and Slack and Martin (1964) were certainly among the early caries clinical trial pioneers. As clinical trials have come into the mainstream of clinical research in medicine and dentistry, a great deal of developmental work has focused on their methodological enhancement. The most successful of these efforts have come from fruitful, ongoing collaborations among clinician investigators, biostatisticians, data management specialists, biomedical ethicists, and others with an academic interest in clinical trial design and utilization. During the past 25 years, the emergence of

  19. Pfeiffer syndrome: clinical and genetic findings in five Brazilian families.

    PubMed

    Júnior, Hercílio-Martelli; de Aquino, Sibele-Nascimento; Machado, Renato-Assis; Leão, Letícia-Lima; Coletta, Ricardo-Della; Burle-Aguiar, Marcos-José

    2015-01-01

    Pfeiffer syndrome (PS) is mainly characterized by craniosysnostosis, midface hypoplasia, great toes with partial syndactyly of the digits, broad and medially deviated thumbs. It is caused by allelic mutations in the fibroblast growth factor receptor 1 and 2 (FGFR1 and 2) genes. This study describes the clinical and genetic features of five Brazilian families affected by PS. All patients exhibited the classical phenotypes related to PS. The genetic analysis was able to detect the mutations Cys278Phe, Cys342Arg, and Val359Leu in three of these families. Two mutations were de novo, with one familial. We identified pathogenic mutations in four PS cases in five Brazilian families by PCR sequencing of FGFR1 exon 5 and FGFR2 exons 5, 8, 10, 11, 15, and 16. The clinical and genetic aspects of these families confirm that this syndrome can be clinically variable, with different mutations in the FGFR2 responsible for PS.

  20. Myocarditis in puppies: clinical, pathological and virological findings.

    PubMed

    Gagnon, A N; Crowe, S P; Allen, D G; Downey, R S

    1980-07-01

    The clinical, pathological and virological findings in puppies affected with myocarditis are reported. A parvo-like virus was isolated from pooled heart specimens, which is similar to the virus isolated from gastroenteritis cases.

  1. Clinical and radiological findings of a bilateral coronoid hyperplasia case

    PubMed Central

    Torenek, Kubra; Duman, Suayip Burak; Bayrakdar, Ibrahim Sevki; Miloglu, Ozkan

    2015-01-01

    Coronoid hyperplasia (CH) is an infrequent condition that can be defined as an abnormal bony elongation of histologically normal bone. Progressive and painless difficulty in opening the mouth is the main clinical finding of CH. In this case report, the clinical and radiological findings for a 23-year-old male patient with bilateral CH are presented. When plain radiographies are not sufficient for diagnosis and evaluation of the CH, cone-beam computed tomography can be used. PMID:25713499

  2. 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

  3. Nerve biopsy findings contribute to diagnosis of multiple mononeuropathy: 78% of findings support clinical diagnosis

    PubMed Central

    Zhang, Ying-shuang; Sun, A-ping; Chen, Lu; Dong, Rong-fang; Zhong, Yan-feng; Zhang, Jun

    2015-01-01

    Multiple mononeuropathy is an unusual form of peripheral neuropathy involving two or more nerve trunks. It is a syndrome with many different causes. We reviewed the clinical, electrophysiological and nerve biopsy findings of 14 patients who suffered from multiple mononeuropathy in our clinic between January 2009 and June 2013. Patients were diagnosed with vasculitic neuropathy (n = 6), perineuritis (n = 2), chronic inflammatory demyelinating polyradiculoneuropathy (n = 2) or Lewis-Sumner syndrome (n = 1) on the basis of clinical features, laboratory data, electrophysiological investigations and nerve biopsies. Two patients who were clinically diagnosed with vasculitic neuropathy and one patient who was clinically diagnosed with chronic inflammatory demyelinating polyradiculoneuropathy were not confirmed by nerve biopsy. Nerve biopsies confirmed clinical diagnosis in 78.6% of the patients (11/14). Nerve biopsy pathological diagnosis is crucial to the etiological diagnosis of multiple mononeuropathy. PMID:25788930

  4. Nerve biopsy findings contribute to diagnosis of multiple mononeuropathy: 78% of findings support clinical diagnosis.

    PubMed

    Zhang, Ying-Shuang; Sun, A-Ping; Chen, Lu; Dong, Rong-Fang; Zhong, Yan-Feng; Zhang, Jun

    2015-01-01

    Multiple mononeuropathy is an unusual form of peripheral neuropathy involving two or more nerve trunks. It is a syndrome with many different causes. We reviewed the clinical, electrophysiological and nerve biopsy findings of 14 patients who suffered from multiple mononeuropathy in our clinic between January 2009 and June 2013. Patients were diagnosed with vasculitic neuropathy (n = 6), perineuritis (n = 2), chronic inflammatory demyelinating polyradiculoneuropathy (n = 2) or Lewis-Sumner syndrome (n = 1) on the basis of clinical features, laboratory data, electrophysiological investigations and nerve biopsies. Two patients who were clinically diagnosed with vasculitic neuropathy and one patient who was clinically diagnosed with chronic inflammatory demyelinating polyradiculoneuropathy were not confirmed by nerve biopsy. Nerve biopsies confirmed clinical diagnosis in 78.6% of the patients (11/14). Nerve biopsy pathological diagnosis is crucial to the etiological diagnosis of multiple mononeuropathy.

  5. Fasciola hepatica infection: clinical and radiological findings in pediatric patients.

    PubMed

    Karadağ-Öncel, Eda; Ozsürekçi, Yasemin; Ozkaya-Parlakay, Aslınur; Celik, Melda; Cengiz, Ali Bülent; Haliloğlu, Mithat; Ceyhan, Mehmet; Kara, Ateş

    2012-01-01

    Fascioliasis, an uncommon liver disease in children, is caused by the trematode Fasciola hepatica. Its clinical and laboratory findings may mimic several disorders of the liver, including malignancies. Diagnosis is usually made by demonstrating the presence of the parasite in liver tissue or the stool, or by serology, but many children are diagnosed incidentally. Described here are the clinical, laboratory and radiological features of five pediatric fascioliasis cases with different clinical pictures presenting over a period of five years, all of whom were successfully cured with oral triclabendazole.

  6. 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

  7. Pfeiffer syndrome: Clinical and genetic findings in five Brazilian families

    PubMed Central

    Júnior, Hercílio-Martelli; Machado, Renato-Assis; Leão, Letícia-Lima; Coletta, Ricardo- Della; Burle-Aguiar, Marcos-José

    2015-01-01

    Pfeiffer syndrome (PS) is mainly characterized by craniosysnostosis, midface hypoplasia, great toes with partial syndactyly of the digits and broad and medially deviated thumbs. It is caused by allelic mutations in the fibroblast growth factor receptor 1 and 2 (FGFR1 and 2) genes. This study describes the clinical and genetic features of five Brazilian families affected by PS. All patients exhibited the classical phenotypes related to PS. The genetic analysis was able to detect the mutations Cys278Phe, Cys342Arg, and Val359Leu in three of these families. Two mutations were de novo, with one familial. We identified pathogenic mutations in four PS cases in five Brazilian families by PCR sequencing of FGFR1 exon 5 and FGFR2 exons 5, 8, 10, 11, 15, and 16. The clinical and genetic aspects of these families confirm that this syndrome can be clinically variable, with different mutations in the FGFR2 responsible for PS. Key words:Craniosynostosis, Pfeiffer syndrome, mutation, FGFR2. PMID:25129254

  8. [Clinical findings in a lamb with congenital multiple abnormalities].

    PubMed

    Chavez Moreno, V J; Henze, P

    1995-01-01

    A case of multiple, congenital malformations, with special emphasis on cardiac malformations (atrial- and ventricle septum defect, Ductus Botalli persistens, bilateral ventricle and atrial dilatation) in a lamb are described. Clinical findings, X-ray, ultrasound examination, electrocardio- and phonocardiogram, as well as pathology are discussed.

  9. 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,…

  10. Large-Bowel Obstruction in the Adult: Classic Radiographic and CT Findings, Etiology, and Mimics.

    PubMed

    Jaffe, Tracy; Thompson, William M

    2015-06-01

    Large-bowel obstruction is an abdominal emergency with high morbidity and mortality rates if left untreated. Although abdominal radiography is usually the initial imaging study performed in patients suspected of having large-bowel obstruction, it may not be sufficient to distinguish obstruction from other causes of colonic dilatation. Computed tomography is the imaging method of choice as it can establish the diagnosis and cause of large-bowel obstruction. A contrast agent enema may be used to confirm or exclude large-bowel obstruction. In this review, the imaging findings in multiple causes of large-bowel obstruction are illustrated and compared with acute colonic pseudo-obstruction.

  11. Bayesian population finding with biomarkers in a randomized clinical trial.

    PubMed

    Morita, Satoshi; Müller, Peter

    2017-03-03

    The identification of good predictive biomarkers allows investigators to optimize the target population for a new treatment. We propose a novel utility-based Bayesian population finding (BaPoFi) method to analyze data from a randomized clinical trial with the aim of finding a sensitive patient population. Our approach is based on casting the population finding process as a formal decision problem together with a flexible probability model, Bayesian additive regression trees (BART), to summarize observed data. The proposed method evaluates enhanced treatment effects in patient subpopulations based on counter-factual modeling of responses to new treatment and control for each patient. In extensive simulation studies, we examine the operating characteristics of the proposed method. We compare with a Bayesian regression-based method that implements shrinkage estimates of subgroup-specific treatment effects. For illustration, we apply the proposed method to data from a randomized clinical trial.

  12. Sleep architecture changes in depression: interesting finding or clinically useful.

    PubMed

    Fleming, J

    1989-01-01

    1. Since the late 1970's, considerable progress in the description and quantification of EEG sleep changes in depression has been made. A consistent finding in the sleep of depressed patients is a shortening of the time from sleep onset to the appearance of the first REM period (short REM latency) suggesting that this finding might be used as a clinical test to differentiate depressed from nondepressed patients. 2. Sleep architecture changes in depression are described and factors influencing REM sleep are identified. The stability of REM sleep abnormalities and the specificity of these changes for depression are discussed. Methodological issues, which have been identified as possible contaminants affecting the reliability of research findings, are described before the author concludes with a summary of current obstacles to using polysomnography in the clinical assessment of depressed patients.

  13. Classical Control System Design: A non-Graphical Method for Finding the Exact System Parameters

    NASA Astrophysics Data System (ADS)

    Hussein, Mohammed Tawfik

    2008-06-01

    The Root Locus method of control system design was developed in the 1940's. It is a set of rules that helps in sketching the path traced by the roots of the closed loop characteristic equation of the system, as a parameter such as a controller gain, k, is varied. The procedure provides approximate sketching guidelines. Designs on control systems using the method are therefore not exact. This paper aims at a non-graphical method for finding the exact system parameters to place a pair of complex conjugate poles on a specified damping ratio line. The overall procedure is based on the exact solution of complex equations on the PC using numerical methods.

  14. 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

  15. Clinical and surgical data of affected members of a classic CFEOM 1 family

    PubMed Central

    Magli, Adriano; de Berardinis, Teresa; D'Esposito, Fabiana; Gagliardi, Vincenzo

    2003-01-01

    Background Congenital fibiosis of the extraocular muscles (CFEOM1) refers to a group of congenital eye movement disorders that are characterized by non-progressive restrictive ophthalmoplegia. We present clinical and surgical data on affected members of a classic CFEOM1 family. Methods Ten members of a fifteen-member, three-generation Italian family affected by classic CFEOM participated in this study. Each affected family member underwent ophthalmologic (corrected visual acuity, pupillary function, anterior segment and fundus examination), orthoptic (cover test, cover-uncover test, prism alternate cover test), and preoperative examinations. Eight of the ten affected members had surgery and underwent postoperative examinations. Surgical procedures are listed. Results All affected members were born with varying degrees of bilateral ptosis and ophthalmoplegia with both eyes fixed in a hypotropic position (classic CFEOM). The affected members clinical data prior to surgery, surgery procedures and postoperative outcomes are presented. On 14 operated eyes to correct ptosis there was an improvement in 12 eyes. In addition, the head position improved in all patients. Conclusions Surgery is effective at improving ptosis in the majority of patients with classic CFEOM. However, the surgical approach should be individualized to each patient, as inherited CFEOM exhibits variable expressivity and the clinical features may differ markedly between affected individuals, even within the same family. PMID:12702216

  16. Imaging and clinical findings in segmental arterial mediolysis (SAM).

    PubMed

    Alhalabi, Kinan; Menias, Christine; Hines, Robert; Mamoun, Ihsan; Naidu, Sailendra

    2017-02-01

    Segmental arterial mediolysis (SAM) is an uncommon, non-atherosclerotic, non-inflammatory arteriopathy that tends to affect the medium-sized splanchnic branches of the aorta along with renal, carotid, cerebral, and coronary arteries. The clinical presentation ranges from asymptomatic to severe, life-threatening intra-abdominal hemorrhage and shock. SAM overlaps clinically and radiologically with other inflammatory vasculitides. This article describes the pathologic-radiologic correlation, imaging findings, and the management of the disease. Radiologists should be familiar with this disease entity as imaging plays a crucial role in the diagnosis.

  17. Long-term clinical outcome of neonatal EEG findings.

    PubMed

    Almubarak, Salah; Wong, Peter K H

    2011-04-01

    The aim of the study is to determine how specific EEG findings during neonatal period correlate with clinical outcome on follow-up. This is a retrospective study of 118 term newborns who had EEG in the first month of life and subsequent clinical assessment between 4 and 16 years. Clinical neurologic outcome was classified into "favorable" when patients had no or only mild limitation in assessment, "unfavorable" when patients had moderate to severe abnormalities in assessment, and "epilepsy" when patients had seizures. Of the 118 neonates, 36 (30.5%) had favorable and 82 (69.5%) had unfavorable outcome; 89 (75.4%) had epilepsy and 28 (23.7%) had not. Sixty-seven (57%) had abnormal EEG background of which 56 had both unfavorable outcome and epilepsy; 102 (86%) had sharp transient discharges of which 75 had unfavorable outcome; 20 (17%) had ictal epileptiform discharges of which 18 had unfavorable outcome; 98 (83%) had abnormal overall EEG impression of which 77 had unfavorable outcome and 80 had epilepsy. Abnormal EEG background (particularly suppression) during neonatal period may be predictive of Unfavorable outcome. Overall impression of EEG may be predictive of clinical outcome, even when individual parameters were not predictive. Other findings did not appear to be predictive.

  18. 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

  19. Clinical diagnosis versus autopsy findings in polytrauma fatalities

    PubMed Central

    2010-01-01

    Objectives The aim of the study was to determine if differences in clinical diagnosis versus autopsy findings concerning the cause of death in polytrauma fatalities would be detected in 19 cases of fatal polytrauma from a Level 1 trauma centre. Methods Clinical diagnoses determining the cause of death in 19 cases of fatal polytrauma (2007 - 2008) from a Level 1 trauma centre were correlated with autopsy findings. Results In 13 cases (68%), the clinical cause of death and the cause of death as determined by autopsy were congruent. Marginal differences occurred in three (16%) patients while obvious differences in interpreting the cause of death were found in another three (16%) cases. Five fatalities (three with obvious differences and two with marginal differences) were remarked as early death (1-4 h after trauma) and one fatality with marginal differences as late death (>1 week after trauma). Obvious and marginal discrepancies mostly occurred in the early phase of treatment, especially when severely injured patients were admitted to the emergency room undergoing continued cardiopulmonary resuscitation, i. e. limiting diagnostic procedures, and thus the clinical cause of death was essentially determined by basic emergency diagnostics. Conclusions Autopsy as golden standard to define the cause of death in fatal polytrauma varies from the clinical point of view, depending on the patient's pre-existing condition, mechanism of polytrauma, necessity of traumatic cardiopulmonary resuscitation, survival time, and thus the possibility to perform emergency diagnostics. An autopsy should be performed at least in cases of early fatal polytrauma to help establishing the definite cause of death. Moreover, autopsy data should be included in trauma registries as a quality assessment tool. PMID:20977732

  20. 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

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

    PubMed

    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.

  2. Clinical forensic radiology in strangulation victims: forensic expertise based on magnetic resonance imaging (MRI) findings.

    PubMed

    Yen, Kathrin; Vock, Peter; Christe, Andreas; Scheurer, Eva; Plattner, Thomas; Schön, Corinna; Aghayev, Emin; Jackowski, Christian; Beutler, Verena; Thali, Michael J; Dirnhofer, Richard

    2007-03-01

    Based on only one objective and several subjective signs, the forensic classification of strangulation incidents concerning their life-threatening quality can be problematic. Reflecting that it is almost impossible to detect internal injuries of the neck with the standard forensic external examination, we examined 14 persons who have survived manual and ligature strangulation or forearm choke holds using MRI technique (1.5-T scanner). Two clinical radiologists evaluated the neck findings independently. The danger to life was evaluated based on the "classical" external findings alone and in addition to the radiological data. We observed hemorrhaging in the subcutaneous fatty tissue of the neck in ten cases. Other frequent findings were hemorrhages of the neck and larynx muscles, the lymph nodes, the pharynx, and larynx soft tissues. Based on the classical forensic strangulation findings with MRI, eight of the cases were declared as life-endangering incidents, four of them without the presence of petechial hemorrhage but with further signs of impaired brain function due to hypoxia. The accuracy of future forensic classification of the danger to life will probably be increased when it is based not only on one objective and several subjective signs but also on the evidence of inner neck injuries. However, further prospective studies including larger cohorts are necessary to clarify the value of the inner neck injuries in the forensic classification of surviving strangulation victims.

  3. Clinical relevance of abnormal scintigraphic findings of adult equine ribs.

    PubMed

    Dahlberg, Jessica A; Ross, Michael W; Martin, Benson B; Davidson, Elizabeth J; Leitch, Midge

    2011-01-01

    Horses with cranial rib abnormalities may exhibit severe acute lameness and may have unusual gait deficits characterized by forelimb abduction during protraction at the walk. Horses with caudal rib abnormalities may resent being saddled and ridden. In a retrospective evaluation of 20 horses with a documented rib lesion, 25 sites of increased radiopharmaceutical uptake were found in one or more ribs. Thirteen (52%) scintigraphic lesions involved the first rib; four were located immediately dorsal to the sternal articulation, eight were near the costochondral junction and one was at the costovertebral junction. Six (24%) scintigraphic rib lesions involved ribs 2-8; one was located immediately dorsal to the sternal articulation, three were at the costovertebral junction and two were near the costochondral junction. Six (24%) scintigraphic rib lesions involved the mid-portion (five) or costovertebral junction (one) of ribs 9-18. The 20 horses were divided into three groups based on the clinical relevance of the scintigraphic findings. Group 1 (n=3) horses had clinical signs attributed to a rib abnormality; Group 2 (n=6) horses had a rib abnormality that was a plausible explanation for clinical signs; Group 3 (n=11) horses had clinical signs that could not be attributed to a rib abnormality. For horses with cranial rib abnormalities, a modified lateral scintigraphic image with the ipsilateral limb pulled caudally and a left (right) 45° caudal-right (left) radiograph facilitated the diagnosis.

  4. Primary lateral sclerosis: clinical, neurophysiological, and magnetic resonance findings

    PubMed Central

    Kuipers-Upmeijer, J; de Jager, A E J; Hew, J; Snoek, J; van Weerden, T W

    2001-01-01

    OBJECTIVE—To describe the clinical, neurophysiological, and MRI findings in 10 patients with primary lateral sclerosis (PLS).
RESULTS—The course of the disease was very slowly progressive. Spasticity due to upper motor neuron dysfunction was the most prominent sign, but EMG showed slight lower motor neuron signs, such as a mixed pattern on maximal voluntary contraction and enlarged motor unit potentials. One patient had clinically mild lower motor neuron involvement. Central motor conduction times (CMCT) were more prolonged in PLS than is the case in ALS. Minor sensory signs were found on neurophysiological examination, comparable with those in ALS. In four patients serum creatine kinase activity was raised. On MRI cortical atrophy was seen, most pronounced in the precentral gyrus and expanding into the parietal-occipital region.
CONCLUSIONS—PLS is a distinct clinical syndrome, part of the range of motor neuron diseases. Besides pronounced upper motor neuron symptoms, mild lower motor neuron symptoms can also be found, as well as (subclinical) sensory symptoms. PLS can be distinguished from ALS by its slow clinical course, a severely prolonged MEP, and a more extensive focal cortical atrophy.

 PMID:11606672

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

    PubMed

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

    2016-12-09

    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. 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

  7. Breast abscess after nipple piercing: sonographic findings with clinical correlation.

    PubMed

    Leibman, A Jill; Misra, Monika; Castaldi, Maria

    2011-09-01

    The purpose of this series was to review the spectrum of clinical and sonographic features associated with infection after nipple piercing. Between 2002 and 2010, 6 patients presented to our breast center with a breast abscess after nipple piercing. A retrospective analysis of the imaging findings was performed with clinical and pathologic correlation. Patients with breast infections after nipple piercing tend to be young, and the timing since piercing varies from 2 weeks to 17 months. Sonography showed a complex or hypoechoic mass in 5 of 6 patients. Treatment of breast abscesses included surgical incision and drainage, percutaneous drainage, and antibiotic therapy. Surgical evacuation is commonly performed; however, sonographically guided aspiration may be an appropriate management strategy.

  8. [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.

  9. [Clinical features of NMO according to brain MRI findings].

    PubMed

    Shimizu, Yuko

    2010-09-01

    Neuromyelitis optica (NMO) is a severe inflammatory, demyelinating disease, and its clinical characteristics include recurrent optic neuritis and longitudinally extensive transverse myelitis. The NMO-immunoglobulin (Ig) G auto-antibody (Ab), which binds to the aquaporin-4 (AQP4) water channel protein, is a marker for NMO. These clinical and immunological features have been used to distinguish NMO from multiple sclerosis (MS). In 1999, Wingerchuk et al. broadened the clinical criteria for diagnosing NMO to include "negative brain magnetic resonance imaging (MRI) at onset." However, after NMO-IgG/AQP4-Ab became a supportive criterion for diagnosing NMO, patients with NMO were frequently found to have symptomatic or asymptomatic brain lesions. In 2006, Pittock et al. reported that asymptomatic brain lesions were common in NMO, and that NMO brain lesions characteristically occurred in the hypothalamus and periventricular areas, which correspond to brain regions with high levels of AQP4 expression. Furthermore, Nakashima et al. detected abnormalities on brain MRI in 71% of NMO-IgG-positive Japanese patients. Patients with NMO have unique brain lesions that are clearly different from the lesions of patients with MS. In patients with NMO, involvement of the dorsal portion of the medulla oblongata causes intractable hiccups and nausea. Some studies described a hypothalamic lesion, and hypothalamic dysfunction could cause symptomatic hypersomnia, narcolepsy, and endocrinopathies. In some patients with NMO and NMO spectrum disorder who experience blood pressure fluctuations, vasogenic edema, manifesting as posterior reversible encephalopathy syndrome, may occur. In a recent report highlighting brain MRI with contrast enhancement, the most prominent feature that appeared to be a specific finding in NMO was "cloud-like enhancement" with multiple patchy enhancing lesions with a blurred margin. Another report showed that acute, large, edematous callosal lesions with

  10. Primary hyperoxaluria: spectrum of clinical and imaging findings.

    PubMed

    Strauss, Sara B; Waltuch, Temima; Bivin, William; Kaskel, Frederick; Levin, Terry L

    2017-01-01

    Primary hyperoxaluria is a rare autosomal recessive inborn error of metabolism with three known subtypes. In primary hyperoxaluria type 1, the most common of the subtypes, a deficiency in the hepatic enzymes responsible for the metabolism of glycoxylate to glycine, leads to excessive levels of glyoxylate, which is converted to oxalate. The resultant elevation in serum and urinary oxalate that characterizes primary hyperoxaluria leads to calcium oxalate crystal deposition in multiple organ systems (oxalosis). We review the genetics, pathogenesis, variable clinical presentation and course of this disease as well as its treatment. Emphasis is placed on the characteristic imaging findings before and after definitive treatment with combined liver and renal transplantation.

  11. Reliability of Japanese clinical trials estimated from GCP audit findings.

    PubMed

    Saito, K; Kodama, Y; Ono, S; Maida, C; Fujimura, A; Miyamoto, E

    2008-08-01

    To describe the reliability of Japanese clinical trials, we compared the results of a Good Clinical Practice (GCP) audit conducted between April 1997 and March 2000 (fiscal year (FY) 1997 - 1999) with those from April 2004 - March 2005 (FY2004). The number and proportion of various types of deficiencies described in GCP audit reports were compared between the 2 periods. The audit findings in the former period were based on official audits that covered 331 hospitals and 775 trials. The audits in the latter period targeted 114 hospitals and 189 trials. The inspection of former period was undertaken by the Organization for Pharmaceuticals Safety and Research (OPSR). On the other hand, the latter period was undertaken by the Pharmaceuticals and Medical Devices Agency (PMDA). The total number of deficiencies detected in GCP audits was 1,529 in the former 3-year period (FY1997 - 1999) and 819 in the latter period (FY2004). The total number of deficiencies detected and reported was more than 1.5-fold on an annual basis in the latter period. By category of deficiencies, the proportion of protocol deviations increased from 14.7 (225/1,529) to 45.7% (374/819), while the proportion of errors in case report forms (CRFs) decreased from 43.6 (666/ 1,529) to 27.1% (222/819). There were two remarkable changes in audit findings between FY1997 - 1999 and FY2004; the increase in the proportion of protocol deviations and the decrease in the proportion of CRF-related deficiencies. We think that in Japan the improvement of research environments is needed to provide reliable clinical data responsible for the regulatory standard of GCP.

  12. Clinical and multimodal biomarker correlates of ADNI neuropathological findings

    PubMed Central

    2013-01-01

    Background Autopsy series commonly report a high percentage of coincident pathologies in demented patients, including patients with a clinical diagnosis of dementia of the Alzheimer type (DAT). However many clinical and biomarker studies report cases with a single neurodegenerative disease. We examined multimodal biomarker correlates of the consecutive series of the first 22 Alzheimer’s Disease Neuroimaging Initiative autopsies. Clinical data, neuropsychological measures, cerebrospinal fluid Aβ, total and phosphorylated tau and α-synuclein and MRI and FDG-PET scans. Results Clinical diagnosis was either probable DAT or Alzheimer’s disease (AD)-type mild cognitive impairment (MCI) at last evaluation prior to death. All patients had a pathological diagnosis of AD, but only four had pure AD. A coincident pathological diagnosis of dementia with Lewy bodies (DLB), medial temporal lobe pathology (TDP-43 proteinopathy, argyrophilic grain disease and hippocampal sclerosis), referred to collectively here as MTL, and vascular pathology were present in 45.5%, 40.0% and 22.7% of these patients, respectively. Hallucinations were a strong predictor of coincident DLB (100% specificity) and a more severe dysexecutive profile was also a useful predictor of coincident DLB (80.0% sensitivity and 83.3% specificity). Occipital FDG-PET hypometabolism accurately classified coincident DLB (80% sensitivity and 100% specificity). Subjects with coincident MTL showed lower hippocampal volume. Conclusions Biomarkers can be used to independently predict coincident AD and DLB pathology, a common finding in amnestic MCI and DAT patients. Cohorts with comprehensive neuropathological assessments and multimodal biomarkers are needed to characterize independent predictors for the different neuropathological substrates of cognitive impairment. PMID:24252435

  13. Dentomaxillofacial manifestations of Gaucher's disease: preliminary clinical and radiographic findings

    PubMed Central

    Nobre, RM; Ribeiro, ALR; Alves-Junior, SM; Tuji, FM; Rodrigues Pinheiro, M das G; Pinheiro, LR; Pinheiro, JJV

    2012-01-01

    Objectives A wide variety of manifestations is presented in patients with Gaucher's disease (GD), including bone, haematology and visceral disturbances. This study was conducted to ascertain the main maxillofacial abnormalities by means of clinical survey, panoramic and cone beam CT (CBCT); to compare the patient's group with an age–sex matched control group; and to correlate clinical and radiological data. Methods Ten patients previously diagnosed with GD were submitted to clinical and radiological surveys (CBCT and panoramic radiographs). The examination consisted of anamnesis, extra- and intraoral examinations and analyses of each patient's records. Imaging data were collected from the point of view of 3 observers, and the results compared with a healthy group (20 individuals) by means of statistical analysis (Fisher's exact test). Results Gaucher patients had significantly more manifestations than otherwise healthy carriers. The most prevalent findings were enlarged marrow spaces, generalized osteopenia and effacement of jaw structures (mandibular canal, lamina dura and mental foramen). Here we describe a case in which thickening of the maxillary sinus mucosa was observed on CBCT rather than opacification of the sinus as seen on panoramic radiographs. Pathological fractures, root resorption and delay on tooth eruption were not observed. Conclusions A poor relationship could be observed between clinical and radiological data. Patients showed important bone manifestations, which require careful diagnostic and surgical planning whenever necessary. Although panoramic radiographs have shown significant differences, CBCT is more effective in pointing out differences between patients and a control group, thus showing it as an important tool for evaluation of Gaucher patients. PMID:22988312

  14. Fluorescein angiographic findings and clinical features in Fuchs' uveitis.

    PubMed

    Bouchenaki, Nadia; Herbort, Carl P

    2010-10-01

    Fuchs' uveitis is very often diagnosed with substantial delay, which is at the origin of deleterious effects such as unnecessary treatment and its consequences. The aim of this study was to analyse the type and frequency of posterior inflammatory and fluorescein angiographic signs in Fuchs' uveitis in conjunction with other clinical signs. Patients seen at the Centre for Ophthalmic Specialised Care (COS) in Lausanne and the Memorial A. de Rothschild, Clinique Générale-Beaulieu in Geneva between 1995 and 2008 with the diagnosis of Fuchs' uveitis and who had undergone a fundus fluorescein angiography (FFA) were analysed. In addition to FFA signs, the data collected included age, gender, initial and final visual acuities, clinical findings at presentation, mean diagnostic delay and ocular complications. Between 1995 and 2008, 105 patients seen in our centres in Lausanne and Geneva were diagnosed with Fuchs' uveitis. Forty of them (38.1%) had undergone at least one FFA. One patient was excluded because of a concomittant diagnosis of multiple sclerosis. In 28 of 39 patients (71.2%) diagnosis was not reached at presentation with a mean diagnosis delay of 3.67 ± 4.86 years (range: 1 month-24 years). The original erroneous diagnosis was intermediate uveitis in 16 patients (57.1%), posterior uveitis in two patients (7.1%), panuveitis in four patients (14.3%) and anterior granulomatous uveitis in six patients (21.4%). Fluorescein angiography demonstrated the presence of disc hyperfluorescence in 43/44 eyes (97.7%), sectorial peripheral retinal vascular leaking in 6/44 eyes (13.6%) and cystoid macular oedema in 4/44 eyes (9.1%), all of which were seen in eyes having undergone cataract surgery. Fuchs' uveitis was bilateral in 5/39 patients (12.8%). The most frequent clinical signs were vitritis in 42/44 eyes (95.5%), stellate keratic precipitates in 41 eyes (93.2%), posterior subcapsular opacities or cataract in 19 eyes (43.2%), and heterochromia in 19 eyes (43.2%). Fuchs

  15. A variant of the classical superficial brachioulnoradial artery: morphology and clinical significances.

    PubMed

    Ariyo, Olutayo; Fenderson, Bruce

    2016-08-01

    We report a superficial brachioulnoradial artery (SBURA) presenting as a variant of the normal, originating from the proximal third of the right brachial artery of a 75-year-old female cadaver which bifurcated yielding a brachiointerosseous artery laterally and a SBURA medially, and the latter bifurcating 5 cm proximal to the elbow yielding a brachioradial artery laterally and the superficial brachioulnar artery medially, resulting in the formation of three instead of two brachial arteries as in the classical SBURA said to bifurcate at the elbow into the radial and ulnar arteries. Clinical implications of this variant are discussed.

  16. [Heterotopic gray matter: MR findings and clinical aspects].

    PubMed

    Schuierer, G; Stefan, H; Wenzel, D; Kurlemann, G

    1995-01-01

    Heterotopias are conglomerates of neurons and glial cells in an abnormal location and belong to a group of malformations, which are the result of a disturbed migration of neurons during the embryonic development of the brain. The MRI-appearance and clinical symptoms of 14 patients with nodular or lamellar heterotopias are presented. Seizures were the leading symptom (12 of 14 patients), in children also a developmental deficit (4/10) with or without seizures. Most of the children (9/10) had further brain malformations especially of the corpus callosum or the cerebellar vermis. Nodular heterotopias without further malformations were found in 4 patients, two of them developing grand-mal seizures after childhood. On MRI heterotopias are characterized by a signal isointense to gray matter in all sequences. MRI-scans in at least 2 orientations are necessary to detect these anomalies reliably. MRI is the optimum method for the demonstration of these anomalies and should always be performed if seizures develop during childhood. At least in nodular heterotopias there is no definite correlation between the extent of the anomalies, the EEG-findings and the clinical symptoms. However there is a frequent combination of heterotopias with further cerebral malformations.

  17. Deficiency of interleukin-1-receptor antagonist syndrome: a rare auto-inflammatory condition that mimics multiple classic radiographic findings.

    PubMed

    Thacker, Paul G; Binkovitz, Larry A; Thomas, Kristen B

    2012-04-01

    Deficiency of interleukin-1-receptor antagonist (DIRA) syndrome is a newly identified inflammatory disease of the skeleton and appendicular soft tissues presenting in early infancy that has yet to be reported in the radiology literature. The radiological manifestations of DIRA syndrome include multifocal osteitis of the ribs and long bones, heterotopic ossification and periarticular soft-tissue swelling. Thus, the pediatric radiologist should be made aware of this novel disease because its radiographic findings can mimic multiple other disease entities. With knowledge of the unique clinical presentation of DIRA syndrome and its multiple radiographic manifestations, the pediatric radiologist may be the first to suggest the correct diagnosis.

  18. Myelodysplastic Syndrome Clinically Presenting with the “Classic TTP Pentad”

    PubMed Central

    Polanco Jácome, Evelyn Carolina; Guevara, Elizabeth; Mattoo, Vijay

    2017-01-01

    The clinical presentation of myelodysplastic syndrome (MDS) is not specific. Many patients can be asymptomatic and can be detected only due to an abnormal complete blood cell count (CBC) on routine exam or for other reasons while others can be symptomatic as a consequence of underlying cytopenias. Thrombotic thrombocytopenic purpura (TTP) usually is suspected under the evidence of microangiopathic hemolytic anemia (MAHA) and thrombocytopenia and because it is a life-threatening condition (medical emergency) immediate initiation of plasmapheresis could be life-saving. The following case illustrates an unusual presentation of MDS in a patient who came in to the emergency room with the classic TTP “pentad” of fever, renal involvement, MAHA, mental status changes, and thrombocytopenia. We will focus our discussion in the clinical presentation of this case. PMID:28255478

  19. Refractory Lesional Parietal Lobe Epilepsy: Clinical, Electroencephalographic and Neurodiagnostic Findings

    PubMed Central

    KURŞUN, Oğuzhan; KARATAŞ, Hülya; DERİCİOĞLU, Neşe; SAYGI, Serap

    2016-01-01

    Introduction Specialized centers, in the management and surgical treatment of medically refractory epilepsy, emphasize the importance of differentiating the varieties of localization related epilepsies. There has been considerable recent interest in temporal and frontal lobe epileptic syndromes and less attention has been paid to parietal and occipital lobe epilepsies. Methods Here we report the clinical, electroencephalographic and neuroimaging characteristics of 46 patients with medically refractory lesional parietal lobe epilepsy who have been followed up for 1–10 years. Results In this study auras were reported in 78.3% of the patients and included sensory symptoms (72.2%), headache (36.1%), nausea and vomiting (36.1%), psychic symptoms (36.1%) and visual symptoms (16.6%). The most common ictal behavioral changes were paresthesia (69.6%) and focal clonic activity (39.1%). Tonic posture, various automatisms, head deviation, staring, sensation of pain and speech disturbances occurred to a lesser extent. Simple partial seizures were present in 69.6%. Complex partial seizures occurred in 43.5% and secondary generalized tonic clonic seizures were reported in 58.7% of the patients. Interictal routine EEG disclosed abnormal background activity in 1/3 of the patients. Nonlocalising epileptiform abnormalities were found in 34.8% of the patients. EEG findings were normal in 34.8% of the patients. The most common presumed etiologic factors were as follows: posttraumatic encephalomalacia, stroke, tumor, malformation of cortical development, atrophy, and arteriovenous malformation. Conclusion Clinical, electrophysiological and neuroimaging features of the lesional symptomatic partial epilepsy patients may help us to localize the seizure focus in some patients with cryptogenic partial epilepsy. So that, the timing decision of the parietal lobe sampling with more invasive techniques like intracranial electrodes prior to epilepsy surgery would be easier. PMID:28373797

  20. Clinical and magnetic resonance imaging findings in 92 cats with clinical signs of spinal cord disease.

    PubMed

    Gonçalves, Rita; Platt, Simon R; Llabrés-Díaz, Francisco J; Rogers, Katherine H; de Stefani, Alberta; Matiasek, Lara A; Adams, Vicki J

    2009-02-01

    Medical records of 92 cats presented with clinical signs of spinal cord disease, which had undergone magnetic resonance imaging (MRI), were reviewed. The cats were grouped into seven categories based upon the diagnosis suggested by results of MRI, cerebrospinal fluid analysis and other diagnostic procedures: neoplastic (n=25), inflammatory or infectious (n=13), traumatic (n=8), vascular (n=6), degenerative (n=5), anomalous (n=3) and those with an unremarkable MRI (n=32). There were two independent predictors of abnormal MRI findings: severity of clinical signs and presence of spinal pain. Abnormal MRI findings and speed of onset of disease were significantly associated with survival. For the 32 cats with unremarkable MRI findings, only nine died due to spinal disease and, therefore, the median survival time (MST) was not reached (lower 95% confidence interval (CI)=970 days). For the 60 cats with abnormal MRI findings, 37 died due to their disease and the MST was 138 days (95% CI: 7-807).

  1. 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.

  2. 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.

  3. Presence of an acute phase response in sheep with clinical classical scrapie

    PubMed Central

    2012-01-01

    Background Work with experimental scrapie in sheep has been performed on-site for many years including studies on PrPSc dissemination and histopathology of organs and tissues both at preclinical and clinical stages. In this work serum was sampled at regular intervals from lambs which were infected immediately after birth and from parallel healthy controls, and examined for acute phase proteins. In contrast to earlier experiments, which extensively studied PrPSc dissemination and histopathology in peripheral tissues and brain, this experiment is focusing on examination of serum for non-PrPSc markers that discriminates the two groups, and give insight into other on-going processes detectable in serum samples. Results There was clear evidence of an acute phase response in sheep with clinical scrapie, both experimental and natural. All the three proteins, ceruloplasmin, haptoglobin and serum amyloid A, were increased at the clinical stage of scrapie. Conclusion There was evidence of a systemic measurable acute phase response at the clinical terminal end-stage of classical scrapie. PMID:22805457

  4. Traumatic pericarditis in cattle: clinical, radiographic and ultrasonographic findings.

    PubMed

    Braun, U

    2009-11-01

    Pericarditis is an inflammation of the pericardium with accumulation of serous or fibrinous inflammatory products. In cattle, it is almost always attributable to a reticular foreign body that has penetrated the reticular wall, diaphragm and pericardial sac. The lead signs of pericarditis are tachycardia, muffled heart sounds, asynchronous abnormal heart sounds, distension of the jugular veins and submandibular, brisket and ventral abdominal oedema. The glutaraldehyde test is an important diagnostic tool because it is positive in >90% of affected cattle. Other common laboratory findings are leukocytosis and hyperfibrinogenaemia (indicating inflammation), and elevation of liver enzyme activity (reflecting hepatic congestion). Radiographs of the thorax and reticulum often show a foreign body cranial to the reticulum. In the majority of cases, massive fibrinopurulent adhesions obscure the cardiophrenic angle, cardiac silhouette and ventral diaphragm. Ultrasonography is the method of choice for diagnosis and characterisation of pericardial effusion. Echogenic deposits and strands of fibrin are seen on the epicardium, and the ventricles are compressed by the effusion. Severe pleural effusion is usually evident. In cattle with distension of the jugular veins and tachycardia, the differential diagnosis includes right-sided cardiac insufficiency attributable to other causes. Distension of the jugular veins without signs of right-sided cardiac insufficiency may occur with obstruction or compression of the cranial vena cava. The prognosis is poor, and pericardiocentesis or pericardiotomy are inadequate methods of treatment. Thus, prompt and humane euthanasia is indicated for cattle with traumatic reticuloperitonitis. Because a definitive diagnosis of traumatic reticuloperitonitis is not always possible based on clinical signs alone, radiography and ultrasonography of the thorax and reticulum are indicated in doubtful cases.

  5. 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

  6. Exome Sequencing and Unrelated Findings in the Context of Complex Disease Research: Ethical and Clinical Implications

    PubMed Central

    Lyon, Gholson J.; Jiang, Tao; Van Wijk, Richard; Wang, Wei; Bodily, Paul Mark; Xing, Jinchuan; Tian, Lifeng; Robison, Reid J.; Clement, Mark; Lin, Yang; Zhang, Peng; Liu, Ying; Moore, Barry; Glessner, Joseph T.; Elia, Josephine; Reimherr, Fred; van Solinge, Wouter W.; Yandell, Mark; Hakonarson, Hakon; Wang, Jun; Johnson, William Evan; Wei, Zhi; Wang, Kai

    2012-01-01

    Exome sequencing has identified the causes of several Mendelian diseases, although it has rarely been used in a clinical setting to diagnose the genetic cause of an idiopathic disorder in a single patient. We performed exome sequencing on a pedigree with several members affected with attention deficit/hyperactivity disorder (ADHD), in an effort to identify candidate variants predisposing to this complex disease. While we did identify some rare variants that might predispose to ADHD, we have not yet proven the causality for any of them. However, over the course of the study, one subject was discovered to have idiopathic hemolytic anemia (IHA), which was suspected to be genetic in origin. Analysis of this subject’s exome readily identified two rare non-synonymous mutations in PKLR gene as the most likely cause of the IHA, although these two mutations had not been documented before in a single individual. We further confirmed the deficiency by functional biochemical testing, consistent with a diagnosis of red blood cell pyruvate kinase deficiency. Our study implies that exome and genome sequencing will certainly reveal additional rare variation causative for even well-studied classical Mendelian diseases, while also revealing variants that might play a role in complex diseases. Furthermore, our study has clinical and ethical implications for exome and genome sequencing in a research setting; how to handle unrelated findings of clinical significance, in the context of originally planned complex disease research, remains a largely uncharted area for clinicians and researchers. PMID:21794208

  7. 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

  8. Ethics consultation and empathy : finding the balance in clinical settings.

    PubMed

    Bruns, Florian; Frewer, Andreas

    2011-12-01

    There is no doubt that emotions have an important effect on practices of moral reasoning such as clinical ethics consultation. Empathy is not only a basic human emotion but also an important and learnable skill for health care professionals. A basic amount of empathy is essential both in patient care and in clinical ethics consultation. This article debates the "adequate dose" of empathy in ethics consultations in clinical settings and tries to identify possible situations within the process of consultation in which this crucial feeling is at risk.

  9. Finding the best scientific evidence to support clinical practice.

    PubMed

    Carneiro, António Vaz

    2004-06-01

    The role of science in clinical practice is nowadays fundamental. The constant publication of studies and clinical trials provides evidence of good quality that can be used by the clinician as a basis for medical decision-making, even in a context of uncertainty and risk. Valid and relevant information can help solve the problems of clinical knowledge in practice. The main question is then how practicing clinicians can learn about the innovations and acquire the recent information that can help them to change their practice for the better. The volume of medical literature is enormous and constantly growing, and it is difficult to manage. The increasing availability of secondary data sources for daily patient care provides practical and rapid access to all this information, enabling improvements in the quality of care. In this paper we present and discuss a set of modern and high-quality instruments to obtain useful information for clinical practice.

  10. Spectrum of MRI findings in clinical athletic pubalgia.

    PubMed

    Zajick, Donald C; Zoga, Adam C; Omar, Imran M; Meyers, William C

    2008-03-01

    Athletic pubalgia is a frequently encountered syndrome for clinicians who treat active patients participating in a wide variety of athletic endeavors worldwide. Pathologies associated with this clinical scenario span anatomically from the pubic symphysis to the hip and include a myriad of poorly understood and incompletely described musculoskeletal entities, many of which are centered about the pubic symphysis and its tendinous attachments. In this article, we discuss the relevant anatomy and pathophysiology for the most frequently encountered of these disorders, using magnetic resonance (MR) images as a guide. We describe an MR imaging protocol tailored to clinical athletic pubalgia. We then review reproducible MRI patterns of pathology about the pubic symphysis, the rectus abdominis/adductor aponeurosis and the inguinal ring, as well as a group of clinically confounding entities remote from the symphysis but visible by MRI.

  11. Clinical Presentation and Magnetic Resonance Findings in Sellar Tuberculomas

    PubMed Central

    Bonifacio-Delgadillo, Dulce; Aburto-Murrieta, Yolanda; Salinas-Lara, Citlaltepetl; Sotelo, Julio; Montes-Mojarro, Ivonne; Garcia-Marquez, Arturo

    2014-01-01

    Background and Importance. Sellar tuberculomas are extremely rare lesions with nonspecific clinical manifestations. The tuberculous infection of the pituitary gland and sellar region is characterized by the presence of an acute or chronic inflammatory reaction and may occur in the absence of systemic tuberculosis. The diagnosis is difficult prior to the surgery. An adequate diagnostic and antituberculous drugs usually result in a good outcome. Clinical Presentation. We report four cases of sellar tuberculoma, 3/1 female/male, age range: 50–57 years. All patients had visual disturbances and low levels of cortisol. Conclusion. The clinical diagnosis of sellar tuberculoma is a challenge and should be suspected when a sellar lesion shows abnormal enhancement pattern and stalk involvement, and absence of signal suppression in FLAIR. PMID:25114688

  12. [Epileptic attacks in cerebral arterial pathology. Clinical findings].

    PubMed

    Rohmer, F; Collard, M; Kurtz, D; Warter, J M; Coquillat, G

    1975-09-01

    The authors analyse, with reference to 107 cases, the incidence of epileptic attacks in different types of non-traumatic arterial pathology of the brain. They describe their various clinical and evolutive aspects and attempt to isolate those peculiar to critical manifestations of this type occurring in the course of cerebral vascular accidents.

  13. Cardiac involvement in Sydenham's chorea: clinical and Doppler echocardiographic findings.

    PubMed

    Elevli, M; Celebi, A; Tombul, T; Gökalp, A S

    1999-10-01

    Sydenham's chorea is often encountered in pure form, but it may also occur in association with carditis. Recently, it has been reported that silent, mild valvular regurgitation has been encountered in patients with rheumatic fever manifested by isolated polyarthritis and pure chorea. We studied 22 children with Sydenham's chorea to determine clinical and subclinical heart involvement at the time of the initial diagnosis. Ages of the patients ranged from 6-19 y (mean 13.14+/-3.0), and the female/male ratio was 3.4:1. All patients were evaluated by clinical and echocardiographic examination with respect to heart involvement. Carditis was detected in only 5 of 22 patients (23%) by auscultation. Clinical valvular involvement was determined: mitral regurgitation in three and combined mitral and aortic regurgitation in two. The frequency of valvular involvement increased significantly to 63% 2(14/22) after adding silent mitral regurgitation detected by colour Doppler echocardiography (chi2=7.50, p=0.0062). We found that clinically inaudible, but echocardiographically significant, mild valvular regurgitation was frequent in patients with pure chorea. It is concluded that colour Doppler echocardiography may be useful in detecting silent valvular regurgitation and in deciding the duration of prophylaxis.

  14. Clinical findings and diagnosis in genetic prion diseases in Germany.

    PubMed

    Krasnianski, Anna; Heinemann, Uta; Ponto, Claudia; Kortt, Jasmine; Kallenberg, Kai; Varges, Daniela; Schulz-Schaeffer, Walter J; Kretzschmar, Hans A; Zerr, Inga

    2016-02-01

    To describe the clinical syndrome and diagnostic tests in patients with genetic prion diseases (gPD) in Germany. Clinical features, MRI, EEG, and CSF markers were studied in 91 patients (28 D178N, 20 E200K, 17 inserts, 13 V210I, 8 P102L, 5 E196K). Dementia (35 %) and ataxia (29 %) were the most common initial symptoms and signs. A wide variety and high frequency of neurological/psychiatric symptoms and signs was found during disease course in all patients independently of the type of the mutation. Psychiatric manifestations were frequent (87 %). Neuropsychological abnormalities were observed in 67 %, and aphasia was the most common disturbance (45 %). In E200K, V210I and D178N patients, visual/oculomotor deficits were followed by ataxia early in the disease. Dementia followed by ataxia at onset was common in patients with insert and E196K mutation. P102L patients had isolated ataxia over a longer time period followed by pyramidal signs. Dementia was present only late in the disease course. All clinical routine tests such as MRI, EEG and CSF tests were less sensitive than in sporadic CJD. We provide the first detailed analysis of clinical signs and symptoms in a large group of patients with gPD. Frequency of clinical symptoms and signs was similar in different mutations in a later disease course, but the sequence of occurrence may be of great diagnostic importance. CSF markers were shown to be more sensitive than MRI and EEG.

  15. 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, ...

  16. Subcutaneous lymphoid follicular hyperplasia secondary to vaccination: correlation of ultrasound findings with clinical and histological findings.

    PubMed

    Castro Copete, M C; Crespo Martínez, C; Martínez García, C; Calbo Maiques, J

    2016-10-19

    In recent years, the use of vaccines has been standardized within vaccination programs. Adverse effects at the puncture site are usually mild and transient. Nevertheless, in some cases, persistence subcutaneous nodules can develop; these are often underdiagnosed because they are so rare and because of the long time that can transpire between the vaccination and their appearance. Histologically, they consist of a lymphoid follicular hyperplasia that occurs as a reaction to the aluminum particles usually used as an adjuvant in some vaccines. We were unable to find any reference in the radiological literature to these soft-tissue nodules secondary to vaccination. We report the characteristic ultrasound findings that will enable radiologists to identify or strongly suspect these lesions and thereby avoid unnecessary imaging tests that might lead to confusion and inadequate management of these patients.

  17. Presumed Perinatal Stroke: Risk Factors, Clinical and Radiological Findings.

    PubMed

    Ilves, Pilvi; Laugesaar, Rael; Loorits, Dagmar; Kolk, Anneli; Tomberg, Tiiu; Lõo, Silva; Talvik, Inga; Kahre, Tiina; Talvik, Tiina

    2016-04-01

    It is unknown why some infants with perinatal stroke present clinical symptoms late during infancy and will be identified as infants with presumed perinatal stroke. The risk factors and clinical and radiological data of 42 infants with presumed perinatal stroke (69% with periventricular venous infarction and 31% with arterial ischemic stroke) from the Estonian Pediatric Stroke Database were reviewed. Children with presumed perinatal stroke were born at term in 95% of the cases and had had no risk factors during pregnancy in 43% of the cases. Children with periventricular venous infarction were born significantly more often (82%) vaginally (P = .0213) compared to children with arterial stroke (42%); nor did they require resuscitation (P = .0212) or had any neurological symptoms after birth (P = .0249). Periventricular venous infarction is the most common type of lesion among infants with the presumed perinatal stroke. Data suggest that the disease is of prenatal origin.

  18. CADASIL: pathogenesis, clinical and radiological findings and treatment.

    PubMed

    André, Charles

    2010-04-01

    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common genetic cause of ischemic strokes and a most important model for the study of subcortical vascular dementia. This unrelentlessly progressive disease affects many hundreds of families all over the world but is not well studied in Brazil. This manuscript reviews pathogenetic, clinical, radiological and therapeutic features of CADASIL. The causal mutations are now very well known, but the same can not be said about its intimate pathogenetic mechanisms. The variable clinical presentation should lead physicians to actively pursue the diagnosis in many settings and to more thoroughly investigate family history in first degree relatives. A rational approach to genetic testing is however needed. Treatment of CADASIL is still largely empiric. High-quality therapeutic studies involving medications and cognitive interventions are strongly needed in CADASIL.

  19. Sleepwalking and night terrors in adulthood clinical EEG findings.

    PubMed

    Soldatos, C R; Vela-Bueno, A; Bixler, E O; Schweitzer, P K; Kales, A

    1980-07-01

    This is the first controlled study to show a lack of relation between a positive history of sleepwalking or night terrors in adults and daytime EEG abnormalities. We recorded a standard clinical EEG on 35 adult sleepwalkers (SW), 35 adult night terror patients (NT), and 35 control subjects (CS). Three subjects in the SW group showed abnormalities: one during both the resting record (RR) and hyperventilation (HV), and two only during HV. None in the NT group showed any EEG abnormality. Two control subjects showed abnormalities of both RR and HV, and a third only during HV. The number of abnormal EEGs within each group was limited, and the three groups did not significantly differ from one another. Our results suggest that the daytime clinical EEG is of limited value in evaluating adults with the primary complaint of sleepwalking or night terrors. However, further all-night sleep EEG studies utilizing clinical montage are needed to investigate the temporal relationship of sleepwalking and night terror events to possible EEG abnormalities.

  20. International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up.

    PubMed

    Welling, Lindsey; Bernstein, Laurie E; Berry, Gerard T; Burlina, Alberto B; Eyskens, François; Gautschi, Matthias; Grünewald, Stephanie; Gubbels, Cynthia S; Knerr, Ina; Labrune, Philippe; van der Lee, Johanna H; MacDonald, Anita; Murphy, Elaine; Portnoi, Pat A; Õunap, Katrin; Potter, Nancy L; Rubio-Gozalbo, M Estela; Spencer, Jessica B; Timmers, Inge; Treacy, Eileen P; Van Calcar, Sandra C; Waisbren, Susan E; Bosch, Annet M

    2017-03-01

    Classical galactosemia (CG) is an inborn error of galactose metabolism. Evidence-based guidelines for the treatment and follow-up of CG are currently lacking, and treatment and follow-up have been demonstrated to vary worldwide. To provide patients around the world the same state-of-the-art in care, members of The Galactosemia Network (GalNet) developed an evidence-based and internationally applicable guideline for the diagnosis, treatment, and follow-up of CG. The guideline was developed using the Grading of Recommendations Assessment, Development, and Evaluation (GRADE) system. A systematic review of the literature was performed, after key questions were formulated during an initial GalNet meeting. The first author and one of the working group experts conducted data-extraction. All experts were involved in data-extraction. Quality of the body of evidence was evaluated and recommendations were formulated. Whenever possible recommendations were evidence-based, if not they were based on expert opinion. Consensus was reached by multiple conference calls, consensus rounds via e-mail and a final consensus meeting. Recommendations addressing diagnosis, dietary treatment, biochemical monitoring, and follow-up of clinical complications were formulated. For all recommendations but one, full consensus was reached. A 93 % consensus was reached on the recommendation addressing age at start of bone density screening. During the development of this guideline, gaps of knowledge were identified in most fields of interest, foremost in the fields of treatment and follow-up.

  1. Atypical Fryns syndrome: clinical, radiological and pathological findings.

    PubMed

    Aygün, Murat Serhat; Sekmenli, Tamer; Çiftçi, İlhan; Gökmen, Zeynel; Tolu, İsmet; Mutlu-Aygün, Fuldem

    2014-01-01

    Fryns syndrome is an autosomal recessive hereditary disease, including abnormal facies, small thorax with widely spaced hypoplastic nipples, distal limb and nail hypoplasia, and diaphragmatic hernia with pulmonary hypoplasia. The aim of the present report is to increase awareness of Fryns syndrome and its association with rare abnormalities such as cecal duplication cyst, horseshoe kidney and butterfly vertebra. We report a male 20-day-old baby with congenital diaphragmatic hernia (CDH), horseshoe kidney, butterfly vertebra, cleft palate, distal finger hypoplasia, left inguinal hernia, typical facial appearance for Fryns syndrome, and cecal duplication cyst. Fryns syndrome is the one of the most common syndromes associated with congenital diaphragmatic defect (CDH), reported in up to 10% of patients with CDH. Although no eye abnormality was seen in our patient, other findings were similar to the other typical diagnostic findings, with the exception of cecal duplication cyst and some other defects not defined before.

  2. Clinical findings and treatment of 30 cattle with botulism.

    PubMed

    Braun, U; Feige, K; Schweizer, G; Pospischil, A

    2005-04-02

    The clinical signs, the results of haematological and biochemical analyses and the treatment of 30 cattle with botulism are described, and the signs of the 13 cattle that survived are compared with those of the 17 that were euthanased owing to the disease. The cattle originated from 11 farms that had experienced an outbreak of botulism. The most important clinical sign in all the cattle was a reduction in the strength of the tongue; excessive salivation and difficulty in swallowing were observed in 20 of the animals, and the ears of 15 of them drooped. In 21 of the cattle, reaction to pricking of the head and body with a hypodermic needle was either absent or slight. Twelve of the animals had an unsteady, slow, difficult gait, and nine were unable to stand. A significantly higher proportion of the cattle which were euthanased had marked changes in behaviour and condition, anorexia, severely reduced skin turgor, weak tongues, a low rectal temperature, a high heart rate and a low blood pH; 11 were euthanased immediately after a clinical examination and six were euthanased one to five days after the initiation of treatment because their condition had deteriorated. Thirteen of the animals were treated for three to 23 days and were healthy when they were discharged. The treatment consisted of an intravenous infusion of 10 to 20 litres of glucose saline per day and the daily administration of fresh ruminal juice. Follow-up by telephone several months later revealed that all 13 animals had recovered completely.

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

    PubMed

    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.

  4. 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

  5. [The significance of mammographic symptoms in clinically occult findings].

    PubMed

    de Waal, J C; Steil, B; Baltzer, J; Vaillant, W; Zander, J

    1987-10-01

    The significance of various radiographic signs in 183 patients with clinically occult breast disease is described. 30.6% had a carcinoma of the breast or a carcinoma in situ. The radiological features have varying predictive values and there is variation in the incidence of lymph node metastases. It is considered useful to classify the radiological appearances under the headings of round foci, star-shaped opacities, diffuse opacities, opacities with calcification and groups of micro-calcification. Despite the early diagnosis, 24% of patients already had lymph node metastases.

  6. 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.

  7. 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

  8. [Impingement syndrome of the shoulder. Clinical data and radiologic findings].

    PubMed

    Masala, S; Fanucci, E; Maiotti, M; Nardocci, M; Gaudioso, C; Apruzzese, A; Di Mario, M; Simonetti, G

    1995-01-01

    Subcoracoid impingement syndrome pain is elicited by some positions of the upper limbs, i.e., adduction and inward rotation, whenever coracohumeral space reduces. Although acquired or congenital malformations of the humeral head and/or coracoid apophysis are the most common causes of painful syndromes, repeated flections and inward rotations of the upper limbs, typical of some sports, such as swimming and tennis, and of some sports, such as swimming and tennis, and of some kinds of work, are predisposing factors. The subcoracoid impingement syndrome exhibits on pathogenomonic signs at clinics and the specificity of diagnostic methods is low, which calls for reliable radiologic assessment of this condition. Fifteen patients with subcoracoid impingement syndrome underwent X-ray, US, CT and MR studies. Plain radiography detected no specific signs of this syndrome, but yielded useful information regarding other painful syndromes of the shoulder, such as anatomical variants of the acromion and degenerative changes. US yield was poor because of the acoustic window of the coracoid apophysis, but supraspinatus tendon changes were demonstrated in 2 cases. CT and MRI proved to be the most reliable and accurate diagnostic methods, the former thanks to its sensitivity to even slight bone changes and to its capabilities in measuring coracohumeral distance and acquiring dynamic scans and the latter because it detects tendon, bursa and rotator cuff changes. To conclude, in our opinion, when the subcoracoid impingement syndrome is clinically suspected, plain X-ray films should be performed first and followed by MR scans.

  9. Iniencephaly Clausus: A New Case With Clinical and Imaging Findings

    PubMed Central

    Khatami, Alireza; Hasanzadeh, Mohsen; Norouzi, Hedayat; Esfandiari, Ehasn; Mehrafarin, Mastooreh

    2015-01-01

    Iniencephaly is a rare kind of neural tube defect that is classified into two types of iniencephaly apertus and iniencephaly clausus. This anomaly could be diagnosed prenatally by obstetric ultrasonography and terminated by therapeutic abortion; however, it could be undiagnosed until birth similar to our case due to the abnormal position of the fetus or lack of experience of the sonographer. Due to abnormality of the neural tube, which causes abnormal head and neck position, all these cases will die shortly after birth. We hereby introduce the photos and imaging findings of a case of an alive neonate with iniencephaly clausus. PMID:26528385

  10. Iniencephaly Clausus: A New Case With Clinical and Imaging Findings.

    PubMed

    Khatami, Alireza; Hasanzadeh, Mohsen; Norouzi, Hedayat; Esfandiari, Ehasn; Mehrafarin, Mastooreh

    2015-07-01

    Iniencephaly is a rare kind of neural tube defect that is classified into two types of iniencephaly apertus and iniencephaly clausus. This anomaly could be diagnosed prenatally by obstetric ultrasonography and terminated by therapeutic abortion; however, it could be undiagnosed until birth similar to our case due to the abnormal position of the fetus or lack of experience of the sonographer. Due to abnormality of the neural tube, which causes abnormal head and neck position, all these cases will die shortly after birth. We hereby introduce the photos and imaging findings of a case of an alive neonate with iniencephaly clausus.

  11. Pituitary Stalk Interruption Syndrome: From Clinical Findings to Pathogenesis.

    PubMed

    Wang, C-Z; Guo, L-L; Han, B-Y; Su, X; Guo, Q-H; Mu, Y-M

    2017-01-01

    Pituitary stalk interruption syndrome (PSIS) is a rare congenital defect manifesting with varying degrees of pituitary hormone deficiency. The signs and symptoms of PSIS during the neonatal period and infancy are often overlooked and therefore diagnosis is delayed. The typical manifestations of PSIS can be detected by magnetic resonance imaging. Several genes in the Wnt, Notch and Shh signalling pathways related to hypothalamic-pituitary development, such as PIT1, PROP1, LHX3/LHX4, PROKR2, OTX2, TGIF and HESX1, have been found to be associated with PSIS. Nevertheless, the aetiology in the majority of cases still remains unknown. In the present review, we provide an overview of clinical features of PSIS and summarise our current understanding of the underlying pathogenic mechanisms for this rare syndrome. Furthermore, we propose future research directions that may help our understanding of the aetiology of PSIS.

  12. Hypertension in women: latest findings and clinical implications

    PubMed Central

    Gudmundsdottir, Helga; Høieggen, Aud; Stenehjem, Aud; Waldum, Bård

    2012-01-01

    Cardiovascular disease claims more women’s lives than any other disease. Hypertension is an important risk factor for cardiovascular disease in women but is often underestimated and undiagnosed and there is an ongoing misperception that women are at a lower risk of cardiovascular disease than men. The attainment of clinical blood pressure goals can markedly reduce cardiovascular morbidity and mortality, yet approximately two-thirds of treated hypertensive women have uncontrolled blood pressure. Furthermore, there are special risk factors that are unique for women that needs acknowledgement in order to help prevent the great number of hypertension-related events in women. Guidelines for treatment of hypertension are similar for men and women. More studies on the interaction between gender and response to antihypertensive drugs would be of interest. PMID:23251774

  13. 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

  14. 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.

  15. Clinical and radiological findings in Pallister-Killian syndrome.

    PubMed

    Jamuar, Saumya; Lai, Angeline; Unger, Sheila; Nishimura, Gen

    2012-03-01

    Pallister-Killian syndrome (PKS) is a potentially lethal disorder with facial dysmorphism, pigmentary skin anomalies, developmental delay and major visceral anomalies, such as diaphragmatic hernia, anorectal malformation, and congenital heart disease. PKS is causally associated with mosaic tetrasomy of chromosome 12p. A routine chromosome analysis in peripheral lymphocytes usually fails to detect the mosaic state. A prompt diagnosis rests on clinical awareness and a subsequent chromosome or molecular analysis in fibroblasts, buccal mucosal cells, or bone marrow cells. We report here on three infants with PKS. One infant had aortic dilatation, a previously unreported association in PKS. More importantly, all infants showed a recognizable, though mild, pattern of skeletal changes mainly affecting axial bones, including delayed ossification of the vertebral bodies and pubic bones, flared anterior ribs, and broad metaphyses of the long bones, particularly of the femora. These skeletal changes should be considered as a useful diagnostic sign in PKS. Awareness of the axial skeletal alterations can be helpful in prompting clinicians to search for mosaic tetrasomy 12p and perform chromosomal analysis in appropriate tissue types.

  16. Clinical dental findings in 203 working donkeys in Mexico.

    PubMed

    du Toit, Nicole; Burden, Faith A; Dixon, Padraic M

    2008-12-01

    Clinical dental examinations of 203 unsedated working donkeys in tropical and temperate climatic areas in Mexico revealed a high prevalence (62%) of dental disease with sharp enamel points present in 98% of the animals. More significant dental disorders (diastemata, 4%; overgrown teeth, 18%; worn teeth, 16%; missing teeth, 0.5%; displaced teeth, 1.5%; fractured teeth, 2%) with welfare implications that required immediate treatment were also present in 18% of donkeys. The high prevalence of buccal ulcers (14.3%) and calluses (13.3%) present in this population was believed to be due to the high prevalence of sharp enamel points in conjunction with the use of tight nose bands and head collars. Dental disease was significantly associated with age groups, but not with body condition score or to the climatic area where the donkeys lived. As part of more general examinations, 81% of donkeys that had faecal egg counts performed, had parasite burdens which mainly showed a moderate level of infection. This study concluded that dental disease is a welfare concern in working donkeys in Mexico.

  17. Spontaneous vertebral dissection: Clinical, conventional angiographic, CT, and MR findings

    SciTech Connect

    Provenzale, J.M.; Morgenlander, J.C.; Gress, D.

    1996-03-01

    The purpose of this study was to determine if typical clinical and neuroradiologic patterns exist in patients with spontaneous vertebral artery (VA) dissection. The medical records and neuroradiologic examinations of 14 patients with spontaneous VA dissection were reviewed. The medical records were examined to exclude patients with a history of trauma and to record evidence of a nontratimatic precipitating event ({open_quotes}trivial trauma{close_quotes}) and presence of possible risk factors such as hypertension. All patients under-went conventional angiography, 13 either CT or MRI (II both CT and MRI), and 3 MRA. Conventional arteriograrris were evaluated for dissection site, evidence of fibromuscular dysplasia, luminal stenosis or occlusion, and pseudoaneurysm formation, CT examinations for the presence of infarction or subarachnoid hemorrhage, MR examinations for the presence of infarction or arterial signal abnormality, and MR angiograms for abnormality of the arterial signal column. Seven patients had precipitating events within 24 h of onset of symptoms that may have been causative of dissection and five had hypertension. At catheter angiography, two patients had dissections in two arteries (both VAs in one patient, VA and internal carotid artery in one patient), giving a total of 15 VAs with dissection. Dissection sites included V1 in four patients, V2 in one patient, V3 in three patients, V4 in six patients, and both V3 and V4 in one patient. Luminal stenosis was present in 13 VAs, occlusion in 2, pseudoaneurysm in 1, and evidence of fibromuscular dysplasia in 1. Posterior circulation infarcts were found on CT or MR in five patients. Subarachnoid hemorrhage was found on CT in two patients and by lumbar puncture alone in two patients. Abnormal periarterial signal on MRI was seen in three patients. MRA demonstrated absent VA signal in one patient, pseudoaneurysm in one, and a false-negative examination in one.

  18. [Supravalvular aortic stenosis. Report of clinical findings in 5 patients].

    PubMed

    Dumont, C R; Gil, M; Mispireta, J; Attié, F

    1975-01-01

    Five cases of supravalvular aortic stenosis (SAS) diagnosed by heart catheterization were studied in the Instituto Nacional de Cardiologia of Mexico. The clinic and laboratory data of interest of the differential diagnosis with other forms of obstruction of the left ventricle as follows: 1. Three cases had mental retardation and "elfin" face (SAS with specific psychophysical syndrome), the rest had a normal psyco-physical state without family antecedents (sporadic SAS). 2. The aortic focus was the epicenter of the expulsion murmur. In the phoncarodiographic study, two patients had protosistolic click and another had, in addition, a descending protodiastolic murmur (Int. I-IV). In the radial sphigmograms, one case had an amplitude difference in favor of the right side. 3. All had serum calcium figures within normal limits. 4. A chromosomatic analysis of preperipheral blood was performed on two patients, with normal results. 5. In the electrocardiogram, one case had right ventricular enlargement secondary to pulmonary arterial hypertension, due to stenosis of the main pulmonary arteries. 6. The radiologic study did not show dilatation of the ascending aorta and aortic bud in any case. 7. The angiocardiography showed: stenosis directly above the Valsalva sinuses; absence of dilatation or hypoplasia of the aorta above the stenosis; and the coronary network, indirectly opaqued, showed no abnormalities. One case had aortic coarctation and abnormal implantation of the right sublaviar artery, and another, stenosis of the right and left branch of its origen of the truncus of the pulmonary artery. The literature up to the present is reviewed and an anatomo-functional classification is proposed with the objective of including new varieties.

  19. In situ mantle cell lymphoma: clinical implications of an incidental finding with indolent clinical behavior

    PubMed Central

    Carvajal-Cuenca, Alejandra; Sua, Luz F.; Silva, Nhora M.; Pittaluga, Stefania; Royo, Cristina; Song, Joo Y.; Sargent, Rachel L.; Espinet, Blanca; Climent, Fina; Jacobs, Samuel A.; Delabie, Jan; Naresh, Kikkeri N.; Bagg, Adam; Brousset, Pierre; Warnke, Roger A.; Serrano, Sergi; Lee Harris, Nancy; Swerdlow, Steven H.; Jaffe, Elaine S.; Campo, Elías

    2012-01-01

    Background Cyclin D1-positive B cells are occasionally found in the mantle zones of reactive lymphoid follicles, a condition that has been called “in situ mantle cell lymphoma”. The clinical significance of this lesion remains uncertain. Design and Methods The clinical and pathological characteristics, including SOX11 expression, of 23 cases initially diagnosed as in situ mantle cell lymphoma were studied. Results Seventeen of the 23 cases fulfilled the criteria for in situ mantle cell lymphoma. In most cases, the lesions were incidental findings in reactive lymph nodes. The t(11;14) was detected in all eight cases examined. SOX11 was positive in seven of 16 cases (44%). Five cases were associated with other small B-cell lymphomas. In two cases, both SOX11-positive, the in situ mantle cell lymphoma lesions were discovered after the diagnosis of overt lymphoma; one 4 years earlier, and one 3 years later. Twelve of the remaining 15 patients had a follow-up of at least 1 year (median 2 years; range, 1–19.5), of whom 11 showed no evidence of progression, including seven who were not treated. Only one of 12 patients with an in situ mantle cell lymphoma lesion and no diagnosis of mantle cell lymphoma at the time developed an overt lymphoma, 4 years later; this case was also SOX11-positive. The six remaining cases were diagnosed as mantle cell lymphoma with a mantle zone pattern. Five were SOX11-positive and four of them were associated with lymphoma without a mantle zone pattern. Conclusions In situ mantle cell lymphoma lesions are usually an incidental finding with a very indolent behavior. These cases must be distinguished from mantle cell lymphoma with a mantle zone pattern and overt mantle cell lymphoma because they may not require therapeutic intervention. PMID:22058203

  20. Mood regulation in youth: research findings and clinical approaches to irritability and short-lived episodes of mania like symptoms

    PubMed Central

    Leigh, Eleanor; Smith, Patrick; Milavic, Gordana; Stringaris, Argyris

    2013-01-01

    Purpose of review Mood regulation problems, such as severe chronic irritability or short episodes of mania like symptoms are common, impairing and a topic of intense recent interest to clinicians, researchers and the DSM-5 process. Here we review the most recent findings about these two presentations and discuss approaches to their treatment. Recent findings Longitudinal and genetic findings suggest that chronic irritability should be regarded as a mood problem that is distinct from bipolar disorder. A proportion of children with short (less than 4 days) episodes of mania like symptoms seem to progress to classical (Type I or II) bipolar disorder over time in US clinic samples. In a UK sample, such episodes were independently associated with psychosocial impairment. The evidence base for the treatment of either irritability or short-lived episodes to mania-like symptoms is still small. Clinicians should be cautious with extrapolating treatments from classical bipolar disorder to these mood regulation problems. CBT-based approaches targeting general mood regulation processes may be effective for cases with severe irritability or short episodes of mania like symptoms. Summary There is increasing research evidence for the importance of mood regulation problems in the form of either irritability or short episodes of mania like symptoms in youth. The evidence base for their drug treatment has yet to be developed. CBT-based interventions to modify processes of mood regulation may be a useful and safe intervention for patients with these presentations. PMID:22569307

  1. Exploring classical conditioning for strengthening the links between semantic and lexical representations in pure anomia: Preliminary findings from a single case study.

    PubMed

    Zannino, Gian Daniele; Barban, Francesco; Caltagirone, Carlo; Carlesimo, Giovanni A

    2017-03-01

    The same language symptom might arise at different functional loci in people with aphasia. Therefore, it is plausible that different therapeutic interventions should be adopted to approach the same difficulties in different patients. Although this point of view is still widely accepted, recently the focus has shifted from the functional locus of a rehabilitative intervention to the mechanisms of action underlying the relearning process. We maintain that both aspects should be taken into account when programming a rehabilitative intervention; furthermore, investigating relearning mechanisms might shed new light on the functional architecture of the disrupted processes. Here, we investigated, in a single case study, whether classical conditioning was a suitable relearning paradigm for targeting word-finding difficulties in pure anomia, that is in a patient with an impairment in accessing intact output lexical representations from a spared semantic system. Using a word-repetition task on picture presentation, we contrasted a condition in which the stimulus onset asynchrony between word and picture stimuli was well suited to produce classical conditioning with a condition in which repetition training could not benefit from this learning mechanism. Only classical conditioning training exerted a significant, long-lasting effect on our patient's naming skill. Tentative implications of our results for the functional architecture of single-word processing are discussed.

  2. Perspectives of clinical genetics professionals toward genome sequencing and incidental findings: A survey study

    PubMed Central

    Lemke, AA; Bick, D; Dimmock, D; Simpson, P; Veith, R

    2013-01-01

    The introduction of clinical genome-wide sequencing raises complex issues regarding the management of incidental findings. However, there is a lack of empirical studies assessing views of providers involved in potential disclosure of such findings. In an anonymous survey of 279 clinical genetics professionals, we found that the vast majority agreed they were interested in knowing about clinically actionable incidental findings in themselves (96%) and their child (99%), and they reported that these types of findings should be disclosed in adult (96%) and minor (98%) patients. Approximately three-fourths agreed they were personally interested in knowing about an adult-onset clinically actionable disease (78%), and a childhood-onset non-clinically actionable disease (75%) in their child. A similar percentage of participants (70%) felt these two types of findings should be disclosed to patients. Forty-four percent wanted to know about an incidental finding that indicates an adult-onset non-clinically actionable condition in themselves and 31% wanted to know about this type of information in their child. Findings from this study revealed participant views highly dependent on clinical actionability. Further research is needed with a broader population of geneticists to increase generalizability, and with diverse patients to assess their perspectives about results disclosure from clinical sequencing. PMID:23163796

  3. 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

  4. 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.

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

    PubMed Central

    Salama, Abdulgabar

    2015-01-01

    Summary 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. PMID:26696799

  6. 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.

  7. Pulmonary surfactant dysfunction in congenital diaphragmatic hernia: experimental and clinical findings.

    PubMed

    Valls-i-Soler, A; Alfonso, L F; Arnaiz, A; Alvarez, F J; Tovar, J A

    1996-01-01

    Experimental and clinical findings indicate immaturity of pulmonary surfactant in congenital diaphragmatic hernia (CDH). Lung histology has shown a decreased amount of lamellar bodies. A low lecithin/sphingomyelin ratio in the amniotic fluid, and decreased concentrations of surfactant protein A and disaturated phosphatidylcholine in the pulmonary tissue and the amniotic fluid have been reported. Furthermore, low compliance and high surface tension have also been found. Evidence of clinical and experimental findings of structural, biochemical and functional pulmonary immaturity in CDH is reviewed. Prenatal administration of corticosteroids to accelerate fetal pulmonary maturation, and the use of early surfactant therapy, should be further evaluated in the clinical management of CDH.

  8. Bruxism, oral parafunctions, anamnestic and clinical findings of temporomandibular disorders in children.

    PubMed

    Emodi-Perlman, A; Eli, I; Friedman-Rubin, P; Goldsmith, C; Reiter, S; Winocur, E

    2012-02-01

    The reported prevalence of temporomandibular disorders (TMD) present during childhood and adolescence ranges between 7% and 68%. The range of the reported prevalence of sleep bruxism in children is also wide. The purpose of the current study was threefold: (i) determine the prevalence of oral parafunctions, sleep bruxism and of anamnestic and clinical findings of TMD among Israeli children with primary or mixed dentition; (ii) to establish whether the parafunctional activities are associated with anamnestic and clinical findings of TMD in this population and (iii) to examine the possible impact of stressful life events on the prevalence of bruxism, oral parafunctions, and anamnestic and clinical findings of TMD in children. A total of 244 children (183 girls and 61 boys) aged 5-12 years were included in the study. Each participant underwent a full TMD examination. Parents, in collaboration with their children, completed a questionnaire on TMD symptoms, oral parafunctions and stressful life events in their children's life. Most participants (78·8%) reported at least one oral habit. Of these, only 'jaw play' was associated with TMD anamnestic and clinical findings. Stressful life events were associated only with the performance of multiple oral habits. These findings indicate that the performance of oral parafunctions is commonplace during childhood, with younger children exhibiting fewer oral parafunctions than adolescents. Stressful life events are related with an increase in the performance of multiple oral parafunctions in children but the later are not necessarily associated with anamnestic and clinical findings of TMD in the paediatric population.

  9. Clinical examination protocol to detect atypical and classical scrapie in sheep.

    PubMed

    Konold, Timm; Phelan, Laura

    2014-01-19

    The diagnosis of scrapie, a transmissible spongiform encephalopathy (TSEs) of sheep and goats, is currently based on the detection of disease-associated prion protein by post mortem tests. Unless a random sample of the sheep or goat population is actively monitored for scrapie, identification of scrapie cases relies on the reporting of clinical suspects, which is dependent on the individual's familiarization with the disease and ability to recognize clinical signs associated with scrapie. Scrapie may not be considered in the differential diagnosis of neurological diseases in small ruminants, particularly in countries with low scrapie prevalence, or not recognized if it presents as nonpruritic form like atypical scrapie. To aid in the identification of clinical suspects, a short examination protocol is presented to assess the display of specific clinical signs associated with pruritic and nonpruritic forms of TSEs in sheep, which could also be applied to goats. This includes assessment of behavior, vision (by testing of the menace response), pruritus (by testing the response to scratching), and movement (with and without blindfolding). This may lead to a more detailed neurologic examination of reporting animals as scrapie suspects. It could also be used in experimental TSE studies of sheep or goats to evaluate disease progression or to identify clinical end-point.

  10. 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

  11. 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.

  12. 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

  13. 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.

  14. 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

  15. 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

  16. Familial Adult-onset Alexander Disease: Clinical and Neuroradiological Findings of Three Cases

    PubMed Central

    ELMALI, Ayşe Deniz; ÇETİNÇELİK, Ümran; IŞLAK, Civan; UZUN ADATEPE, Nurten; KARAALİ SAVRUN, Feray; YALÇINKAYA, Cengiz

    2016-01-01

    The adult-onset Alexander disease (AOAD) dramatically differs from the early onset AD with respect to clinical and neuroradiological findings. Herein we report the detailed clinical and neuroradiological findings of a Turkish family with AOAD. In all three cases, magnetic resonance imaging revealed marked atrophy of the mesencephalon, bulbus, and cervical spinal cord accompanied with signal abnormalities in the same regions along with supratentorial white matter. Basal ganglia were affected in two cases. Molecular genetic analysis revealed heterozygous mutation in the 8th exon of the glial fibrillary acidic protein gene M451I (c.1245G>A), leading to the diagnosis of AOAD in all cases. PMID:28360791

  17. Rabies: the clinical features, management and prevention of the classic zoonosis.

    PubMed

    Warrell, Mary J; Warrell, David A

    2015-02-01

    The diagnosis of rabies encephalitis relies on awareness of the varied clinical features and eliciting a history of unusual contact with a mammal throughout the endemic area. The diagnosis is easily missed. Laboratory tests are not routine and only confirm clinical suspicion. Rabies infection carries a case fatality exceeding 99.9%. Palliation is appropriate, except for previously-vaccinated patients or those infected by American bats, for whom intensive care is probably indicated. However, as rabies vaccines are outstandingly effective, no one should die of dog-transmitted infection. Vaccines and rabies immunoglobulin are expensive and usually scarce in Asia and Africa. All travellers to dog rabies enzootic areas should be strongly encouraged to have pre-exposure immunisation before departure. There is no contraindication to vaccination but the cost can be prohibitive. Intradermal immunisation, using 0.1 ml and sharing vials of vaccine, is cheaper and is now permitted by UK regulations. Returning travellers may need post-exposure prophylaxis. Economical intradermal post-exposure vaccination is practicable and should be introduced into rural areas of Africa and Asia immediately. Eliminating rabies in dogs is now feasible and would dramatically reduce human mortality, if funds were made available. The high current economic burden of human prophylaxis would then be largely relieved.

  18. Pathophysiology, diagnosis and clinical management of hepatorenal syndrome: from classic to new drugs.

    PubMed

    Barbano, Biagio; Sardo, Liborio; Gigante, Antonietta; Gasperini, Maria Ludovica; Liberatori, Marta; Giraldi, Gianluca Di Lazzaro; Lacanna, Antonio; Amoroso, Antonio; Cianci, Rosario

    2014-01-01

    Advanced cirrhosis is frequently associated with renal dysfunction. Hepatorenal syndrome (HRS) is characterized by the occurrence of kidney injury in cirrhotic patients in the absence of other identifiable causes. HRS is classified in 2 different types. Type 1 is characterized by acute renal failure and rapid functional deterioration of other organs, usually related to a precipitating event. Type 2 is characterized by slowly progressive renal failure and refractory ascites. Advanced liver disease induces the progression of hemodynamic alterations such as arterial vasodilation of splanchnic circulation and impairment of cardiac function. The resulting ineffective circulating blood volume promotes the activation of both the renin-angiotensin-aldosterone and sympathetic nervous system, by an increase of antidiuretic hormone activity, in an attempt to restore volemia. Despite fluid retention, ascites and dilutional hyponatremia, renal function is often initially preserved by renal production of vasodilators. However, further insults can lead to an imbalance between systemic vasoconstriction and local renal vasodilation, resulting in progressive renal failure. Over the last decade, clinical strategies to prevent HRS have been improved by a better understanding of the natural history of renal failure in cirrhosis, resulting in a reduction of HRS prevalence in cirrhotic patients. Vasoconstrictor drugs may improve renal function, but the effect on mortality has not yet been established. Vaptans, nonpeptide vasopressin receptor antagonists, may also reduce hyponatraemia and ascites, even if the clinical effects in HRS remain unknown. This review updates the pathophysiology, diagnosis and management of HRS.

  19. 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

  20. Correlation between the Condyle Position and Intra-Extraarticular Clinical Findings of Temporomandibular Dysfunction

    PubMed Central

    Sener, Sevgi; Akgunlu, Faruk

    2011-01-01

    Objectives: To investigate the relationship between different clinical findings and condyle position. Methods: Tenderness on masseter (MM), temporal (TM), lateral pyterigoid (LPM), medial pyterigoid (MPM) and posterior cervical (PSM) muscles, limitation, deviation and deflection in opening of mouth, clicking, crepitating, tenderness on lateral palpation of temporomandibular joint (TMJ) area for each side of 85 patients were evaluated. Each side of patients was categorized into the clinical findings: no sign and/or symptom of temporomandibular dysfunctions (TMDs), only extraarticular findings and only intraarticular findings, extra and intraarticular findings. Condyle positions of 170 TMJs were determined the narrowest anterior (a) and posterior interarticular distance (p) on mid-sagittal MRIs of condyles and expressed as p/a ratio and these ratio were transformed into logarithmic base e. Spearman’s Correlation was used to investigate the relationship between the condyle position and the clinical findings. The difference between the condyle positions of different groups was tested by T test. Reliability statistic was used to determine intra-observer concordance of two measurements of condylar position. Results: A significant relationship was found between the condyle position and tenderness of PSM. There was no significant difference between the groups in aspect of the condyle position. Occlusion and condyle position correlated with significantly. Conclusions: The inclination of the upper cervical spine and craniocervical angulations can cause the signs and symptoms of TMD and condyle position is not main cause of TMDs alone but it may be effective together with other possible etiological factors synergistically. PMID:21769281

  1. Diagnostic Accuracy of Clinical Examination and Imaging Findings for Identifying Subacromial Pain

    PubMed Central

    2016-01-01

    Background The diagnosis of subacromial pathology is limited by the poor accuracy of clinical tests for specific pathologies. The aim of this study was to estimate the diagnostic accuracy of clinical examination and imaging features for identifying subacromial pain (SAP) defined by a positive response to diagnostic injection, and to evaluate the influence of imaging findings on the clinical diagnosis of SAP. Methods and Findings In a prospective, diagnostic accuracy design, 208 consecutive patients presenting to their primary healthcare practitioner for the first time with a new episode of shoulder pain were recruited. All participants underwent a standardized clinical examination, shoulder x-ray series and diagnostic ultrasound scan. Results were compared with the response to a diagnostic block of xylocaineTM injected into the SAB under ultrasound guidance using ≥80% post-injection reduction in pain intensity as the positive anaesthetic response (PAR) criterion. Diagnostic accuracy statistics were calculated for combinations of clinical and imaging variables demonstrating the highest likelihood of a PAR. A PAR was reported by 34% of participants. In participants with no loss of passive external rotation, combinations of three clinical variables (anterior shoulder pain, strain injury, absence of symptoms at end-range external rotation (in abduction)) demonstrated 100% specificity for a PAR when all three were positive (LR+ infinity; 95%CI 2.9, infinity). A full-thickness supraspinatus tear on ultrasound increased the likelihood of a PAR irrespective of age (specificity 98% (95%CI 94, 100); LR+ 6.2; 95% CI 1.5, 25.7)). Imaging did not improve the ability to rule-out a PAR. Conclusion Combinations of clinical examination findings and a full-thickness supraspinatus tear on ultrasound scan can help confirm, but not exclude, the presence of subacromial pain. Other imaging findings were of limited value for diagnosing SAP. PMID:27936246

  2. 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

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

    PubMed Central

    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. PMID:26464911

  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. 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.

  7. 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

  8. 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

  9. Diagnosis of Sanfilippo disease correlating clinical, radiological and biochemical findings-a case report.

    PubMed

    Agrawal, Udit; Meshram, Ajay; Vagha, Jayant; Swarnkar, Kirti; Palandurkar, Kamlesh

    2012-10-01

    Mucopolysaccharidoses (MPS) are a group of genetic diseases and its diagnosis is a challenging task due to multiple differential diagnosis. We had combined clinical findings, radiological and ophthalmological features. Biochemical test for urine glycosaminoglycans (GAG) was done for confirmation of diagnosis in the patient. The case of Sanfilippo disease was characterized by slowly progressive, severe CNS involvement with mild somatic disease. Radiological features were suggestive of Sanfilippo disease and urine GAG test for MPS was positive in the case. With the clinical features we had multiple differential diagnoses. The radiological investigations minimized the list and the biochemical test confirmed GAG in urine. In this case the combination of clinical, radiological and biochemical findings confirmed the diagnosis of Sanfilippo disease.

  10. Equine phacoclastic uveitis: the clinical manifestations, light microscopic findings, and therapy of 7 cases.

    PubMed Central

    Grahn, B H; Cullen, C L

    2000-01-01

    This retrospective clinical study describes the clinical manifestations, light microscopic findings, and diagnosis and treatment of acute and chronic lens rupture in the horse. Rupture of the lens capsule in the horse usually results in a chronic, blinding inflammation (phacoclastic uveitis) unless prompt surgical and medical therapies are implemented. The clinical manifestations of acute lens capsule rupture included: cataract; intralenticular displacement of iridal pigment; lens cortical fragments attached to the perforated lens capsule, iris, and corneal endothelium; miosis; aqueous flare; and usually a corneal or scleral perforation with ulceration or focal full thickness corneal edema and scarring. The clinical signs of chronic phacoclastic uveitis include blindness, phthisis bulbi, and generalized corneal opacification related to scarring, vascularization, pigmentation, and edema. In one horse, acute phacoclastic uveitis was successfully treated with phacoemulsification to remove the ruptured lens and medical therapy to control the accompanying inflammation. The affected eyes of the horses with chronic phacoclastic uveitis were enucleated because of persistent clinical signs of nonulcerative keratitis and uveitis, despite long-term medical management. The clinical manifestations and lack of improvement with medical therapy are similar in the horse, dog, cat, and rabbit. However, the histologic findings in equine phacoclastic uveitis differ significantly from those in the dog, and rabbit. Images Figure 1. Figure 2. Figure 3. Figure 4. Figure 5. Figure 6. Figure 7. Figure 8. PMID:10816830

  11. Translating research findings of chronic kidney disease management to clinical practice: Challenges and opportunities.

    PubMed

    Stevens, Lesley Ann; Levin, Adeera

    2004-01-01

    Chronic Kidney disease (CKD) has been identified as a public health epidemic, fueled in part by improved outcomes of both diabetic and cardiac patient populations, as well as by the increasing recognition that it is possible to identify CKD at earlier stages. The estimated 8 to 10 million Americans that have CKD, with its concomitant morbidity and mortality, have the potential to overwhelm the current system of specialty practice medicine and health care resources. How can clinicians, clinician scientists, and health care administrators translate research findings into clinical practice in an effective manner to improve the care of this burgeoning patient group? The challenge of translating research into clinical care requires identification of that which we do and do not know, communication of knowledge between those who do and do not know, and efficient collection of information for systematic evaluation. This article will describe the challenges of translating current research findings into clinical practice. There is a need to identify the complexity of CKD disease processes and issues associated with delivery of care and to describe the difficulties in the dissemination of new knowledge to physicians. Because of the propensity of CKD to affect identifiable groups of patients, we will discuss the potential challenges of these strategies given the racial, ethnic, and cultural diversity in North America. A potential solution to these challenges is a new paradigm of "process-based medicine" that integrates clinical and basic science research findings with multidisciplinary and shared care models of health care delivery. In this context, attention to advances in information technology, the cognitive processes that underlie physician learning, and the findings of outcome research may ensure true integration of clinical research and clinical practice.

  12. Traumatic hypovolemic shock revisited: the spectrum of contrast-enhanced abdominal computed tomography findings and clinical implications for its management.

    PubMed

    Higashi, Hiroki; Kanki, Akihiko; Watanabe, Shigeru; Yamamoto, Akira; Noda, Yasufumi; Yasokawa, Kazuya; Higaki, Atsushi; Tamada, Tsutomu; Ito, Katsuyoshi

    2014-10-01

    Hypovolemic shock is often seen in patients with severe blunt trauma who have suffered from blood circulation inadequate to maintain oxygen delivery to multiple organs. The early recognition and prompt management of hypovolemic shock in patients with multiple injuries are mandatory to improving prognosis and patient conditions. The diagnostic accuracy of computed tomography (CT) as a primary diagnostic tool is well established. The abdominal organs show several common and classic appearances on contrast-enhanced CT in patients with trauma. The hypovolemic shock complex is reported in the previous literature as decreased enhancement of the viscera, increased mucosal enhancement and luminal dilation of the small bowel, mural thickening and fluid-filled loops of the small bowel, the halo sign and flattening of the inferior vena cava, reduced aortic diameter, and peripancreatic edema. However, there have been controversial CT reports with contradictory appearances. Physicians understanding these findings could prompt alternative approaches to the early assessment and management of hypovolemic shock. The aim of this article is to illustrate common and well-known abdominal CT features in patients with traumatic hypovolemic shock, to discuss controversial CT signs in the pancreas and adrenal gland, and to describe CT findings' clinical implications when managing hypovolemic shock.

  13. Clinical and imaging findings in five dogs with intracranial blastomycosis (Blastomyces dermatiditis).

    PubMed

    Hecht, Silke; Adams, William H; Smith, Joanne R; Thomas, William B

    2011-01-01

    Fungal infections affecting the central nervous system are rare. The purpose of this study was to describe clinical and imaging findings in dogs with intracranial blastomycosis (Blastomyces dermatiditis). The radiology database was searched retrospectively for patients with a diagnosis of intracranial blastomycosis which had computed tomography performed as part of their diagnostic work-up. Medical records and imaging studies were reviewed. Five dogs met the inclusion criteria. Major presenting complaints were stertor/nasal discharge (n=2), exophthalmos (n=1), and seizures (n=2). Clinical and laboratory findings were variable. Computed tomographic examination revealed a single contrast-enhancing intra-axial mass (n=1), a nasal mass disrupting the cribriform plate (n=3), and an intracranial mass extending into the orbit and nasal cavity (n=1). Findings in intracranial blastomycosis in dogs are variable, and the disease may mimic other inflammatory disorders or neoplasia.

  14. 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

  15. 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

  16. 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

  17. 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.

  18. 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

  19. 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.

  20. Radiographic findings in the jaws of clinically edentulous old people living at home in Helsinki, Finland.

    PubMed

    Soikkonen, K; Ainamo, A; Wolf, J; Xie, Q; Tilvis, R; Valvanne, J; Erkinjuntti, T

    1994-08-01

    In the present survey the radiographic findings in the jaws of 124 clinically edentulous old people living at home in Helsinki, Finland, were studied, using panoramic radiography supplemented by intraoral radiographs. Only 9% of the subjects had root remains. Impacted teeth were found in 4%, radiolucent lesions in 3%, and radiopaque findings in 13%. Deviations from normal condylar structure were found in 17% and mucosal thickenings in the maxillary sinuses in 7%. The mental foramen was situated at the top of the residual ridge in 42% of the subjects. Topically situated mental foramen and condylar changes were commoner in women. The radiographic oral health status of the population studied was good.

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

    PubMed Central

    AUCLAIR, URSULA; EPSTEIN, CYNTHIA; MITTELMAN, MARY

    2009-01-01

    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

  2. Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome.

    PubMed

    Koczkowska, Magdalena; Wierzba, Jolanta; Śmigiel, Robert; Sąsiadek, Maria; Cabała, Magdalena; Ślężak, Ryszard; Iliszko, Mariola; Kardaś, Iwona; Limon, Janusz; Lipska-Ziętkiewicz, Beata S

    2017-02-01

    Chromosome 22q11.2 deletion syndrome, one of the most common human genomic syndromes, has highly heterogeneous clinical presentation. Patients usually harbor a 1.5 to 3 Mb hemizygous deletion at chromosome 22q11.2, resulting in pathognomic TBX1, CRKL and/or MAPK1 haploinsufficiency. However, there are some individuals with clinical features resembling the syndrome who are eventually diagnosed with genomic disorders affecting other chromosomal regions. The objective of this study was to evaluate the additive value of high-resolution array-CGH testing in the cohort of 41 patients with clinical features of 22q11.2 deletion syndrome and negative results of standard cytogenetic diagnostic testing (karyotype and FISH for 22q11.2 locus). Array-CGH analysis revealed no aberrations at chromosomes 22 or 10 allegedly related to the syndrome. Five (12.2 %) patients were found to have other genomic imbalances, namely 17q21.31 microdeletion syndrome (MIM#610443), 1p36 deletion syndrome (MIM#607872), NF1 microduplication syndrome (MIM#613675), chromosome 6pter-p24 deletion syndrome (MIM#612582) and a novel interstitial deletion at 3q26.31 of 0.65 Mb encompassing a dosage-dependent gene NAALADL2. Our study demonstrates that the implementation of array-CGH into the panel of classic diagnostic procedures adds significantly to their efficacy. It allows for detection of constitutional genomic imbalances in 12 % of subjects with negative result of karyotype and FISH targeted for 22q11.2 region. Moreover, if used as first-tier genetic test, the method would provide immediate diagnosis in ∼40 % phenotypic 22q11.2 deletion subjects.

  3. 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

  4. A study of 60 patients with percutaneous trigger finger releases: clinical and ultrasonographic findings.

    PubMed

    Gulabi, D; Cecen, G S; Bekler, H I; Saglam, F; Tanju, N

    2014-09-01

    We present the clinical results and ultrasonographic findings of 61 trigger digits treated with percutaneous A1 pulley release. An endoscopic carpal tunnel knife was used for the release in the outpatient department. The mean follow-up period was 3.5 months. A total of 55 digits (90%) had complete relief of their triggering postoperatively. Six digits (10%) had Grade 2 triggering clinically in the early postoperative period.The complications included six cases of insufficient release (10%), scar sensitivity in one patient, short-term hypoaesthesia in three digits (5%), and flexor tendon laceration noted on postoperative ultrasonography in eight digits (13%). No neurovascular damage was noted on the postoperative ultrasonography. Ultrasonograpy provides information about tendon laceration and changes in thickness of the pulleys and confirm A1 pulley release after surgery, but it does not alter clinical decision-making. We believe that pre- and postoperative ultrasonograpy does not need to be included as a routine examination.

  5. 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

  6. Medical complications, clinical findings, and educational outcomes in adults with Noonan syndrome.

    PubMed

    Smpokou, Patroula; Tworog-Dube, Erica; Kucherlapati, Raju S; Roberts, Amy E

    2012-12-01

    Noonan syndrome (NS) is a heterogeneous developmental disorder caused by missense mutations in genes involved in the Ras/MAPK signaling pathway, a major mediator of early and late developmental processes. The diagnosis of NS is made on clinical grounds with molecular confirmation of a mutation found in 63% of cases. Key clinical features include short stature, cardiac defects, developmental delay, lymphatic dysplasias, bleeding tendency, and a constellation of distinctive facial features and physical exam findings. The prevalence of medical issues or the development of new ones in adults with NS is not well-studied. This cross-sectional study reports on the prevalence of clinical conditions and their ages of onset in a cohort of 35 adolescents and adults with NS aged 16-68 years old (mean age 28 years). In this cohort, 34 of 35 subjects (97%) had had full PTPN11 sequencing; 37% were PTPN11 positive, 23% were SOS1 positive, and 3% were BRAF positive. Mean adult height in both men and women was at the 3rd-10th centile. The most prevalent clinical findings in this cohort included pulmonary valve stenosis (71%), easy bruising (63%), GERD (60%), constipation (51%), scoliosis (54%), chronic joint pain (54%), lymphedema (49%), depression (49%), anxiety (49%), Chiari malformation (20%), and osteopenia/osteoporosis (14%). In summary, adults with NS are affected by multi-organ morbidity and require special medical management aimed towards the most prevalent and serious known medical complications. Larger studies characterizing the clinical conditions found in NS adults are needed to provide potential genotype-phenotype correlations that may aid in clinical management.

  7. Nasal symptoms and clinical findings in adult patients treated for unilateral cleft lip and palate.

    PubMed

    Morén, Staffan; Mani, Maria; Lundberg, Kristina; Holmström, Mats

    2013-10-01

    The aim of the study was to investigate self-experienced nasal symptoms among adults treated for UCLP and the association to clinical findings, and to evaluate whether palate closure in one-stage or two-stages affected the symptoms or clinical findings. All people with UCLP born between 1960-1987, treated at Uppsala University Hospital, were considered for participation in this cross-sectional population study with long-term follow-up. Eighty-three patients (76% participation rate) participated, a mean of 37 years after the first operation. Fifty-two patients were treated with one-stage palate closure and 31 with two-stage palate closure. An age-matched group of 67 non-cleft controls completed the same study protocol, which included a questionnaire regarding nasal symptoms, nasal inspection, anterior rhinoscopy, and nasal endoscopy. Patients reported a higher frequency of nasal symptoms compared with the control group, e.g., nasal obstruction (81% compared with 60%) and mouth breathing (20% compared with 5%). Patients also rated their nasal symptoms as having a more negative impact on their daily life and physical activities than controls. Nasal examination revealed higher frequencies of nasal deformities among patients. No positive correlation was found between nasal symptoms and severity of findings at nasal examination. No differences were identified between patients treated with one-stage and two-stage palate closure regarding symptoms or nasal findings. Adult patients treated for UCLP suffer from more nasal symptoms than controls. However, symptoms are not associated with findings at clinical nasal examination or method of palate closure.

  8. Managing clinically significant findings in research: the UK10K example.

    PubMed

    Kaye, Jane; Hurles, Matthew; Griffin, Heather; Grewal, Jasote; Bobrow, Martin; Timpson, Nic; Smee, Carol; Bolton, Patrick; Durbin, Richard; Dyke, Stephanie; Fitzpatrick, David; Kennedy, Karen; Kent, Alastair; Muddyman, Dawn; Muntoni, Francesco; Raymond, Lucy F; Semple, Robert; Spector, Tim

    2014-09-01

    Recent advances in sequencing technology allow data on the human genome to be generated more quickly and in greater detail than ever before. Such detail includes findings that may be of significance to the health of the research participant involved. Although research studies generally do not feed back information on clinically significant findings (CSFs) to participants, this stance is increasingly being questioned. There may be difficulties and risks in feeding clinically significant information back to research participants, however, the UK10K consortium sought to address these by creating a detailed management pathway. This was not intended to create any obligation upon the researchers to feed back any CSFs they discovered. Instead, it provides a mechanism to ensure that any such findings can be passed on to the participant where appropriate. This paper describes this mechanism and the specific criteria, which must be fulfilled in order for a finding and participant to qualify for feedback. This mechanism could be used by future research consortia, and may also assist in the development of sound principles for dealing with CSFs.

  9. Managing clinically significant findings in research: the UK10K example

    PubMed Central

    Kaye, Jane; Hurles, Matthew; Griffin, Heather; Grewal, Jasote; Bobrow, Martin; Timpson, Nic; Smee, Carol; Bolton, Patrick; Durbin, Richard; Dyke, Stephanie; Fitzpatrick, David; Kennedy, Karen; Kent, Alastair; Muddyman, Dawn; Muntoni, Francesco; Raymond, Lucy F; Semple, Robert; Spector, Tim

    2014-01-01

    Recent advances in sequencing technology allow data on the human genome to be generated more quickly and in greater detail than ever before. Such detail includes findings that may be of significance to the health of the research participant involved. Although research studies generally do not feed back information on clinically significant findings (CSFs) to participants, this stance is increasingly being questioned. There may be difficulties and risks in feeding clinically significant information back to research participants, however, the UK10K consortium sought to address these by creating a detailed management pathway. This was not intended to create any obligation upon the researchers to feed back any CSFs they discovered. Instead, it provides a mechanism to ensure that any such findings can be passed on to the participant where appropriate. This paper describes this mechanism and the specific criteria, which must be fulfilled in order for a finding and participant to qualify for feedback. This mechanism could be used by future research consortia, and may also assist in the development of sound principles for dealing with CSFs. PMID:24424120

  10. Effect Sizes for Growth-Modeling Analysis for Controlled Clinical Trials in the Same Metric as for Classical Analysis

    PubMed Central

    Feingold, Alan

    2009-01-01

    The use of growth-modeling analysis (GMA)--including Hierarchical Linear Models, Latent Growth Models, and General Estimating Equations--to evaluate interventions in psychology, psychiatry, and prevention science has grown rapidly over the last decade. However, an effect size associated with the difference between the trajectories of the intervention and control groups that captures the treatment effect is rarely reported. This article first reviews two classes of formulas for effect sizes associated with classical repeated-measures designs that use the standard deviation of either change scores or raw scores for the denominator. It then broadens the scope to subsume GMA, and demonstrates that the independent groups, within-subjects, pretest-posttest control-group, and GMA designs all estimate the same effect size when the standard deviation of raw scores is uniformly used. Finally, it is shown that the correct effect size for treatment efficacy in GMA--the difference between the estimated means of the two groups at end of study (determined from the coefficient for the slope difference and length of study) divided by the baseline standard deviation--is not reported in clinical trials. PMID:19271847

  11. Chronic pancreatitis in dogs: a retrospective study of clinical, clinicopathological, and histopathological findings in 61 cases.

    PubMed

    Bostrom, Brier M; Xenoulis, Panagiotis G; Newman, Shelley J; Pool, Roy R; Fosgate, Geoffrey T; Steiner, Jörg M

    2013-01-01

    The objective of this study was to characterize the clinical, clinicopathological, and histopathological findings of dogs with chronic pancreatitis. The necropsy database at Texas A&M University was searched for reports of dogs with histological evidence of chronic pancreatitis defined as irreversible histologic changes of the pancreas (i.e. fibrosis or atrophy). A reference necropsy population of 100 randomly selected dogs was used for signalment and concurrent disease comparisons. Cases were categorized as clinical or incidental chronic pancreatitis based on the presence of vomiting, decreased appetite, or both vs. neither of these signs. All archived pancreas samples were scored histologically using a published scoring system. Sixty-one dogs with chronic pancreatitis were included. The most frequent clinical signs were lethargy, decreased appetite, vomiting, and diarrhea. Compared to the reference necropsy population, chronic pancreatitis cases were more likely to be older, neutered, of the non-sporting/toy breed group, and to have concurrent endocrine, hepatobiliary, or neurological disease. Clinical cases had significantly higher histological scores for pancreatic necrosis and peripancreatic fat necrosis, and were significantly more likely to have hepatobiliary or endocrine disease as well as increased liver enzyme activities, or elevated cholesterol and bilirubin concentrations. In conclusion, clinical disease resulting from chronic pancreatitis might be related to the presence of pancreatic necrosis and pancreatic fat necrosis. The signalment, presentation, and concurrent diseases of dogs with chronic pancreatitis are similar to those previously reported for dogs with acute pancreatitis.

  12. Correlation between clinical presentation, peroperative finding and histopathological report in acute appendicitis.

    PubMed

    Khan, S A; Gafur, M A; Islam, A; Rahman, M S

    2011-10-01

    Acute appendicitis is usually encountered clinically as acute abdomen. Typical cases are easy to diagnose, but sometimes it is very difficult to make a diagnosis in atypical cases. The objective of the study was to determine the diagnostic accuracy in patient of clinically diagnosed acute appendicitis. This prospective study conducted in Mymensingh medical college hospital on 1136 patients presented with acute abdomen and clinically diagnosed as acute appendicitis from July 2004 to June 2010. Emergency appendicectomy was done in all consecutive patients after relevant investigation. Intraoperative findings along with histopathological reports were compared with clinical diagnosis. On the basis of histopathological report, 85.65% were found to have acute appendicitis with misdiagnosis in rest of the subjects requiring unnecessary explorations. Negative exploration was more in emergency than office hour. This may be due to diagnostic inaccuracy and decision-making in the management of the acute appendicitis. Management errors can be significantly reduced by accurate preoperative diagnosis of acute appendicitis by improving clinical skill and appropriate investigations.

  13. 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

  14. Clinical utility of the informant AD8 as a dementia case finding instrument in primary healthcare.

    PubMed

    Chan, Qun Lin; Xu, Xin; Shaik, Muhammad Amin; Chong, Steven Shih Tsze; Hui, Richard Jor Yeong; Chen, Christopher Li-Hsian; Dong, YanHong

    2016-01-01

    The informant AD8 has excellent discriminant ability for dementia case finding in tertiary healthcare settings. However, its clinical utility for dementia case finding at the forefront of dementia management, primary healthcare, is unknown. Therefore, we recruited participants from two primary healthcare centers in Singapore and measured their performance on the Mini-Mental State Examination (MMSE), Montreal Cognitive Assessment (MoCA), Clinical Dementia Rating (CDR), and a local formal neuropsychological battery, in addition to the AD8. Logistic regression was conducted to examine the associations between demographic factors and dementia. Area under the receiver operating characteristics (ROC) curve analysis was used to establish the optimal cut-off points for dementia case finding. Of the 309 participants recruited, 243 (78.7%) had CDR = 0, 22 (7.1%) CDR = 0.5, and 44 (14.2%) CDR ≥1. Age was strongly associated with dementia, and the optimal age for dementia case finding in primary healthcare settings was ≥75 years. In this age group, the AD8 has excellent dementia case finding capability and was superior to the MMSE and equivalent to the MoCA [AD8 AUC (95% CI): 0.95 (0.91-0.99), cut-off: ≥3, sensitivity: 0.90, specificity: 0.88, PPV: 0.79 and NPV: 0.94; MMSE AUC (95% CI): 0.87 (0.79-0.94), p = 0.04; MoCA AUC (95% CI): 0.88 (0.82-0.95), p = 0.06]. In conclusion, the AD8 is well suited for dementia case finding in primary healthcare settings.

  15. 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

  16. Clinical evolution and radiographic findings of feline heartworm infection in asymptomatic cats.

    PubMed

    Venco, L; Genchi, C; Genchi, M; Grandi, G; Kramer, L H

    2008-12-10

    Clinical manifestations of heartworm disease in cats are variable; most cats seem to tolerate the infection well for extended periods. Heartworm-infected cats may undergo spontaneous self-cure due to the natural death of parasites without any symptomatology, or they may suddenly show dramatic and acute symptoms. Sudden death in apparently healthy cats is not a rare event. Thoracic radiographs are important tool for the diagnosis of cardiopulmonary disease. However, thoracic abnormalities are often absent or transient and highly variable in heartworm-infected cats. Findings, such as enlargement of the peripheral branches of the pulmonary arteries, with a varying degree of pulmonary parenchymal disease and hyperinflation, are the most typical features consistent with infection. A field study was performed for cats referred to the Veterinary Hospital Città di Pavia from January 1998 to December 2001 for routine health examinations and procedures to evaluate the clinical evolution and radiographic findings of feline heartworm infection. Thirty-four asymptomatic cats diagnosed with feline heartworm infection by antibody and antigen tests together with an echocardiogram that allowed worm visualization were included in the follow-up study. Cats were routinely examined every 3 months from the time of heartworm diagnosis until the outcome (self-cure or death). Self-cure was defined as no positive serology for heartworm antigens and no visualization of worms by echocardiography. A final examination for antibodies was carried after 12 months as a final confirmation of self-cure. Twenty-eight cats (82.4%) self-cured; including 21 that showed no clinical signs of infection throughout the study. Six cats died. The most common clinical features observed were acute respiratory symptoms and sudden death. Infection lasted over 3 years in the majority of the cats enrolled in the study. Thoracic radiograph appearance was variable, and the most commonly observed findings were focal

  17. 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

  18. 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.

  19. 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

  20. Histological evaluation of pulp tissue from second primary molars correlated with clinical and radiographic caries findings

    PubMed Central

    Gopinath, Vellore Kannan; Anwar, Khurshid

    2014-01-01

    Background: Managing dental caries in young children is demanding due to the elusions present on the right diagnostic criteria for treatment. The present study evaluated the histological status of pulp tissues extracted from primary second molar with caries involvement. Histological findings are correlated with clinical and radiographic assessment. Materials and Methods: Simple experimental study was conducted on upper or lower second primary molars with occlusal (22 teeth) or proximal (22 teeth) dental caries. Selected children were below 6 years of age. Percentage of caries involvement, residual dentin thickness (RDT), radiographic assessment of interradicular and periapical areas, clinical caries depth and signs and symptoms are the parameters considered for comparing with the histological findings. The specimens were grouped based on the nature of the inflammatory process as acute or chronic. The data were analyzed by Student t-test to compare histological types of inflammation with clinical parameters. P value < 0.05 was considered as significant. Results: Four cases revealed severe acute inflammation in coronal and relatively mild acute inflammation in radicular pulp. In the rest of the specimen coronal and radicular pulp had similar acute or chronic inflammatory changes. Histological evidence of pulpitis correlated with dental caries depth of ≥80%, RDT of ≤1 mm, radiographic rarefactions in the interradicular regions and symptoms of pain. Conclusion: Primary second molars with more than two-third caries involvement with symptoms of pain histologically showed inflammation of both coronal and radicular pulp tissues in all cases. PMID:24932190

  1. 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

  2. Clinical and pulmonary thin-section CT findings in acute Klebsiella pneumoniae pneumonia.

    PubMed

    Okada, Fumito; Ando, Yumiko; Honda, Koichi; Nakayama, Tomoko; Kiyonaga, Maki; Ono, Asami; Tanoue, Shuichi; Maeda, Toru; Mori, Hiromu

    2009-04-01

    The aim of this study was to assess the clinical and pulmonary thin-section CT findings in patients with acute Klebsiella pneumoniae pneumonia. We retrospectively evaluated thin-section CT examinations performed between January 1991 and December 2007 from 962 patients with acute Klebsiella pneumoniae pneumonia. Seven hundred and sixty-four cases with concurrent infectious diseases were excluded. Thus, our study group comprised 198 patients (118 male, 80 female; age range 18-97 years, mean age 61.5). Underlying diseases and clinical findings were assessed. Parenchymal abnormalities were evaluated along with the presence of enlarged lymph nodes and pleural effusion. CT findings in patients with acute Klebsiella pneumoniae pneumonia consisted mainly of ground-glass attenuation (100%), consolidation (91.4%), and intralobular reticular opacity (85.9%), which were found in the periphery (96%) of both sides of the lungs (72.2%) and were often associated with pleural effusion (53%). The underlying conditions in patients with Klebsiella pneumoniae pneumonia were alcoholism or smoking habit.

  3. Spontaneous intracranial hypotension: clinical and neuroimaging findings in six cases with literature review.

    PubMed

    Haritanti, A; Karacostas, D; Drevelengas, A; Kanellopoulos, V; Paraskevopoulou, E; Lefkopoulos, A; Economou, I; Dimitriadis, A S

    2009-02-01

    Spontaneous intracranial hypotension (SIH) is an uncommon but increasingly recognized syndrome. Orthostatic headache with typical findings on magnetic resonance imaging (MRI) are the key to diagnosis. Delayed diagnosis of this condition may subject patients to unnecessary procedures and prolong morbidity. We describe six patients with SIH and outline the important clinical and neuroimaging findings. They were all relatively young, 20-54 years old, with clearly orthostatic headache, minimal neurological signs (only abducent nerve paresis in two) and diffuse pachymeningeal gadolinium enhancement on brain MRI, while two of them presented subdural hygromas. Spinal MRI was helpful in detecting a cervical cerebrospinal fluid leak in three patients and dilatation of the vertebral venous plexus with extradural fluid collection in another. Conservative management resulted in rapid resolution of symptoms in five patients (10 days-3 weeks) and in one who developed cerebral venous sinus thrombosis, the condition resolved in 2 months. However, this rapid clinical improvement was not accompanied by an analogous regression of the brain MR findings that persisted on a longer follow-up. Along with recent literature data, our patients further point out that SIH, to be correctly diagnosed, necessitates increased alertness by the attending physician, in the evaluation of headaches.

  4. Clinical knee findings in floor layers with focus on meniscal status

    PubMed Central

    Rytter, Søren; Jensen, Lilli Kirkeskov; Bonde, Jens Peter

    2008-01-01

    Background The aim of this study was to examine the prevalence of self-reported and clinical knee morbidity among floor layers compared to a group of graphic designers, with special attention to meniscal status. Methods We obtained information about knee complaints by questionnaire and conducted a bilateral clinical and radiographic knee examination in 134 male floor layers and 120 male graphic designers. After the exclusion of subjects with reports of earlier knee injuries the odds ratio (OR) with 95% confidence intervals (CI) of knee complaints and clinical findings were computed among floor layers compared to graphic designers, using logistic regression. Estimates were adjusted for effects of body mass index, age and knee straining sports. Using radiographic evaluations, we conducted side-specific sensitivity analyses regarding clinical signs of meniscal lesions after the exclusion of participants with tibiofemoral (TF) osteoarthritis (OA). Results Reports of knee pain (OR = 2.7, 95% CI = 1.5–4.6), pain during stair walking (OR = 2.2, 95% CI = 1.3–3.9) and symptoms of catching of the knee joint (OR = 2.9, 95% CI = 1.4–5.7) were more prevalent among floor layers compared to graphic designers. Additionally, significant more floor layers than graphic designers had clinical signs suggesting possible meniscal lesions: a positive McMurray test (OR = 2.4, 95% CI = 1.1–5.0) and TF joint line tenderness (OR = 5.4, 95% CI = 2.4–12.0). Excluding floor layers (n = 22) and graphic designers (n = 15) with radiographic TF OA did not alter this trend between the two study groups: a positive McMurray test (OR = 2.2, 95% CI = 1.0–4.9), TF joint line tenderness (OR = 5.0, 95% CI = 2.0–12.5). Conclusion Results indicate that floor layers have a high prevalence of both self-reported and clinical knee morbidity. Clinical knee findings suggesting possible meniscal lesions were significant more prevalent among floor layers compared to a group of low-level exposed graphic

  5. 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

  6. 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.

  7. Implementing research findings into mental health nursing practice: exploring the clinical research fellowship approach.

    PubMed

    Happell, Brenda; Johnston, Linda; Hill, Christine

    2003-12-01

    The lack of research utilization within nursing practice has been extensively discussed in the literature. The Clinical Research Fellowship (CRF) program was developed to assist nurses to change practice on the basis of high-quality research evidence. This paper presents the results of a qualitative study examining the experiences of four CRF participants and three of their unit managers in completing the program and implementing changes within the clinical setting. The major themes to emerge from the data were: experience of the program, outcomes, implementation, assistance from the Centre for Psychiatric Nursing Research and Practice, Victoria, Australia, benefits and drawbacks to the program and whether it would be recommended to others. The findings indicate a positive view of the program itself although problems with the implementation stage were clearly evident. Further support following completion of the program is required to achieve maximum benefit from the program.

  8. 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

  9. Clinical symptoms and laboratory findings supporting early diagnosis of Crimean-Congo hemorrhagic fever in Iran.

    PubMed

    Mostafavi, Ehsan; Pourhossein, Behzad; Chinikar, Sadegh

    2014-07-01

    Crimean-Congo hemorrhagic fever (CCHF) is a zoonotic disease, which is usually transmitted to humans by tick bites or contact with blood or other infected tissues of livestock. Patients suffering from CCHF demonstrate an extensive spectrum of clinical symptoms. As it can take considerable time from suspecting the disease in hospital until reaching a definitive diagnosis in the laboratory, understanding the clinical symptoms and laboratory findings of CCHF patients is of paramount importance for clinicians. The data were collected from patients who were referred to the Laboratory of Arboviruses and Viral Hemorrhagic Fevers at the Pasteur institute of Iran with a primary diagnosis of CCHF between 1999 and 2012 and were assessed by molecular and serologic tests. Referred patients were divided into two groups: patients with a CCHF positive result and patients with a CCHF negative result. The laboratory and clinical findings of these two groups were then compared. Two-thousand five hundred thirty-six probable cases of CCHF were referred to the laboratory, of which 871 cases (34.3%) were confirmed to be CCHF. Contact with infected humans and animals increased the CCHF infection risk (P < 0.001). A tick bite was not a risk factor. Fever; bleeding, vomiting, leucopoenia, thrombocytopenia, and increases in alanine transaminase (ALT) and aspartate transaminase (AST) levels were also indicative of CCHF infection. Accurate and speedy diagnosis of CCHF and appropriate treatment play an important role in patient survival and the application of the findings of this study can prove helpful as a key for early diagnosis.

  10. Physical examination signs, clinical symptoms, and their relationship to electrodiagnostic findings and the presence of radiculopathy.

    PubMed

    Lauder, Tamara D

    2002-08-01

    The validity of the history and physical examination varies with study method and the gold standard used. In general, symptoms are more sensitive than specific, and most patients with radiculopathy do present with some characteristic complaints. With the exception of the ipsilateral SLR, most physical examination findings are more specific than sensitive. In patients with suspected radiculopathy, having at least one abnormal physical examination finding makes the probability of having an abnormal electrodiagnostic study more likely than if the results of the physical examination are normal. Having a normal physical examination, however, does not rule out the possibility of having a radiculopathy that is revealed either electrodiagnostically or surgically. Although the history and physical examination may not be perfect tools for the diagnosis of radiculopathy or predicting electrodiagnostic outcome, they are an essential part of the clinical evaluation to assist in formulating a differential diagnosis and guiding the electrodiagnostic study.

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

    PubMed Central

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

    2014-01-01

    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. Neutropenic enterocolitis in children and young adults with cancer: prognostic value of clinical and image findings.

    PubMed

    Rizzatti, Marcelo; Brandalise, Silvia Regina; de Azevedo, Amilcar Cardoso; Pinheiro, Vitória Régia Pereira; Aguiar, Simone dos Santos

    2010-09-01

    Intensive chemotherapy regimens can result in severe toxicities, particularly those that involve the digestive systems, leading to morbidity and mortality in this group of patients. Acute enterocolitis can be a frequent complication. The authors performed a retrospective review or patients treated at their institution to ascertain the prognostic value of the clinical symptoms and signs of acute enterocolitis, the corresponding abdominal ultrasonographic findings, and the impact of previous chemotherapy. Amongst 1159 patients with cancer treated at the Centro Infantil Boldrini from 2003 to 2007, 188 (16.2%) patients had 1 or more episode of enterocolitis. An intestinal wall thickness of >or=3 mm on ultrasound was considered diagnostic of enterocolitis. There were 231 episodes of enterocolitis with a death rate of 11.7%. Previous therapy with cytarabine and the presence of abdominal distention affected survival. An intestinal wall thickness of >or=10 mm in the ultrasonographic examination was associated with greater mortality. In multivariate analysis, age, gender, tumor type, degree of neutropenia, intestinal wall thickness, and number of intestinal segments were not statistically significant difference. In children and young adults with cancer and enterocolitis, the clinical findings of 4 or more symptoms and presence of abdominal distention were associated with higher risk of death. Use of cytarabine and an intestinal wall thickness of >or=10 mm were associated with a higher death rate.

  13. Clinical and pathologic findings of the liver in the acquired immune deficiency syndrome (AIDS).

    PubMed

    Glasgow, B J; Anders, K; Layfield, L J; Steinsapir, K D; Gitnick, G L; Lewin, K J

    1985-05-01

    Clinical data and histologic sections of the liver, including immunohistochemical studies for hepatitis B surface and core antigens, were reviewed in 42 autopsy cases of the acquired immune deficiency syndrome (AIDS). Hepatomegaly, elevation of serum transaminases, and mild elevation of alkaline phosphatase were commonly observed clinical and biochemical abnormalities. Mildly elevated alkaline phosphatase and normal bilirubin levels were present in patients with Mycobacterium avium-intracellulare (MAI) infection, cytomegalovirus (CMV) infection, and Kaposi's sarcoma (KS). Histologic sections demonstrated liver involvement by MAI in eight cases; KS in six cases; cryptococcus in three cases; and CMV in two cases. One case of MAI infection was associated with marked central vein sclerosis, a finding previously unreported. Thirty-two (76%) of 42 cases had serologic or pathologic evidence of hepatitis exposure. Two patients had histologic evidence of chronic active hepatitis. The pathologic processes involving the liver appeared to be secondary to the infections and neoplasms for which this population is susceptible and did not significantly contribute to morbidity or mortality. No findings specific or pathognomic for AIDS were identified in the liver.

  14. Clinical Signs and Symptoms and Laboratory Findings of Methadone Poisoning in Children

    PubMed Central

    Sharif, Mohammad Reza; Nouri, Saeed

    2015-01-01

    Background: Poisoning accounts for about 7% of all accidents in children under 5 years and is implicated in over 5% of all childhood deaths in developing countries. Objectives: Due to the potential risks of methadone poisoning in children and increased cases of methadone poisoning among Iranian children, this study was conducted to investigate the clinical signs and symptoms and laboratory findings of methadone toxicity in children. Patients and Methods: The present retrospective, descriptive, cross-sectional study describes the clinical symptoms and signs and laboratory findings of methadone poisoning in children under 12 years old in Shahid Beheshti Hospital, Kashan, during the years 2009 to 2013. Results: Of 58 patients, 33 (56.9%) were male and 25 (43.1%) female (P = 0.294). The mean age of patients was 5.2 ± 1.0 years. All the cases of poisoning happened with methadone syrup, due to unsafe keeping of methadone in mineral water bottles and containers of other drugs. Signs and symptoms included drowsiness (91.4 %), miosis (75.9%), vomiting (69.0%), ineffective breathing (any kind of breathing problem except apnea) (62.1%), apnea (53.4%), cyanosis (43.1%), seizure (8.6%), ataxia (6.9%) and delirium (3.4%). Conclusions: Keeping methadone in appropriate containers and warning methadone consumers about the dangerous side effects of its consumption and the symptoms of methadone poisoning in children may minimize the occurrence of this form of poisoning and its complications in children. PMID:26199683

  15. Automatically correlating clinical findings and body locations in radiology reports using MedLEE.

    PubMed

    Sevenster, Merlijn; van Ommering, Rob; Qian, Yuechen

    2012-04-01

    In this paper, we describe and evaluate a system that extracts clinical findings and body locations from radiology reports and correlates them. The system uses Medical Language Extraction and Encoding System (MedLEE) to map the reports' free text to structured semantic representations of their content. A lightweight reasoning engine extracts the clinical findings and body locations from MedLEE's semantic representation and correlates them. Our study is illustrative for research in which existing natural language processing software is embedded in a larger system. We manually created a standard reference based on a corpus of neuro and breast radiology reports. The standard reference was used to evaluate the precision and recall of the proposed system and its modules. Our results indicate that the precision of our system is considerably better than its recall (82.32-91.37% vs. 35.67-45.91%). We conducted an error analysis and discuss here the practical usability of the system given its recall and precision performance.

  16. Corpus Callosum and Neglect Syndrome: Clinical Findings After Meningioma Removal and Anatomical Review

    PubMed Central

    Gomes, David; Fonseca, Madalena; Garrotes, Maria; Lima, Maria Rita; Mendonça, Marta; Pereira, Mariana; Lourenço, Miguel; Oliveira, Edson; Lavrador, José Pedro

    2017-01-01

    Two types of neglect are described: hemispatial and motivational neglect syndromes. Neglect syndrome is a neurophysiologic condition characterized by a malfunction in one hemisphere of the brain, resulting in contralateral hemispatial neglect in the absence of sensory loss and the right parietal lobe lesion being the most common anatomical site leading to it. In motivational neglect, the less emotional input is considered from the neglected side where anterior cingulate cortex harbors the most frequent lesions. Nevertheless, there are reports of injuries in the corpus callosum (CC) causing hemispatial neglect syndrome, particularly located in the splenium. It is essential for a neurosurgeon to recognize this clinical syndrome as it can be either a primary manifestation of neurosurgical pathology (tumor, vascular lesion) or as a postoperative iatrogenic clinical finding. The authors report a postoperative hemispatial neglect syndrome after a falcotentorial meningioma removal that recovered 10 months after surgery and performs a clinical, anatomical, and histological review centered in CC as key agent in neglect syndrome. PMID:28149091

  17. 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.

  18. Radiologic and clinical findings of Behçet disease: comprehensive review of multisystemic involvement.

    PubMed

    Chae, Eun Jin; Do, Kyung-Hyun; Seo, Joon Beom; Park, Seong Hoon; Kang, Joon-Won; Jang, Yu Mi; Lee, Jin Seong; Song, Jae-Woo; Song, Koun-Sik; Lee, Jeong Hyun; Kim, Ah Young; Lim, Tae-Hwan

    2008-01-01

    Behçet disease is a chronic, relapsing, systemic disorder of unknown etiology, characterized by recurrent oral and genital ulcers, uveitis, and other clinical manifestations in multiple organ systems. Although the diagnosis is made on the basis of the combination of typical clinical symptoms, radiologic findings of Behçet disease show characteristic features of its involvement in the gastrointestinal, neurologic, cardiovascular, and thoracic organ systems. In the gastrointestinal tract, Behçet disease may produce various types of ulcers in the esophagus, stomach, and small and large intestines, as well as deeply penetrating ulcerations in the ileocecal region, with frequently accompanying enteric fistulas. Neurologic involvement includes typical and atypical parenchymal neurobehcet disease, dural sinus thrombosis, cerebral arterial aneurysm, occlusion, dissection, and meningitis. Vascular involvement is divided into three subsets including venous occlusion, arterial occlusion, and arterial aneurysm. Cardiac manifestations include intracardiac thrombus, endomyocardial fibrosis, periaortic pseudoaneurysm, and rupture of the sinus of Valsalva. Manifestations of Behçet disease in the thorax include pulmonary arterial aneurysm, pulmonary arterial thromboembolism, thrombosis in the superior vena cava, pulmonary infarction, hemorrhage, and vasculitis of the pleura and pericardium. These various manifestations of Behçet disease respond to steroid treatment; however, one of the characteristics of Behçet disease is the high rate of complications and recurrence after surgery. Familiarity with its various radiologic and clinical characteristics is essential in making an accurate early diagnosis and for prompt treatment of patients with Behçet disease.

  19. Clinical and Endocrinological findings in ectopic pinealoma and spongioblastoma of the hypothalamus.

    PubMed

    Grote, E; Lorenz, R; Vuia, O

    1980-01-01

    Cystic spongioblastoma and ectopic pinealoma occurring simultaneously were found in a 16-year-old male patient, and produced destruction of the hypothalamus. The clinical course extended for over four years. The clinical picture was characterized by a defect of osmo- and thermoregulation and by defective function of diencephalic nuclei and the sympathetic nervous system. The releasing factors for ACTH, TSH, LH, and FSH were lacking and produced corresponding disturbances of pituitary function. Because of the lack of hypothalamic inhibiting factors the prolactin level was increased, and the HGH level was stimulated by arginine loading and inhibited in the glucose test. The intact neurones in the ventromedial nucleus of the hypothalamus could be seen on microscopical examination. Clinical and endrocrinological findings were more suggestive of the diagnosis than the radiological ones. Computerized tomography showed multiple "tumour" localizations without any displacement signs. The occurrence of ectopic pinealoma and spongioblastoma in the same case would suggest, from the pathological point of view, a common dysontogenetic origin developing from the local elements of the nervous tissue.

  20. [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.

  1. Melanocytic nevi with an atypical epithelioid cell component: clinical, histopathologic, and fluorescence in situ hybridization findings.

    PubMed

    Pouryazdanparast, Pedram; Haghighat, Zahra; Beilfuss, Beth Ann; Guitart, Joan; Gerami, Pedram

    2011-09-01

    Combined melanocytic nevi can contain a phenotypically distinct population of large atypical epithelioid cells in a background of smaller banal-appearing melanocytes. On the basis of the pattern of proliferation and degree of pigmentation, nevi with this pattern have been referred to as nevi with an atypical epithelioid cell component (N-AECC). When N-AECC display sheet-like or an expansile nodular growth pattern, notable cytologic atypia, and any level of mitotic activity, they can be difficult to distinguish from melanoma. The clinical history and appearance of these lesions may similarly raise concern for melanoma. In view of this diagnostic problem, we present 28 cases of N-AECC from our dermatopathology consultation and in-house practice. All 28 cases were found to be negative on the basis of fluorescence in situ hybridization (FISH) for imbalanced chromosomal aberrations commonly found in melanoma. The clinical outcomes showed a benign clinical course for all cases for which the outcome information was available. FISH analysis also revealed that, in 4 of 28 cases (14%), the AECC of the lesion demonstrated polyploidy localized to the large epithelioid cell component. This is likely more common among cases of N-AECC that have an atypical spitzoid epithelioid cell component, particularly those with obvious senescent nuclear changes. Care must be taken to avoid the pitfall of misinterpreting these FISH findings as changes consistent with melanoma. The use of ancillary testing methods including FISH may be beneficial in improving the diagnostic accuracy involved in making the distinction of N-AECC from melanoma. Further, we report a novel finding of polyploidy seen in certain cases of benign N-AECC.

  2. Ability of clinicopathologic variables and clinical examination findings to predict race elimination in endurance horses.

    PubMed

    Fielding, C Langdon; Meier, Chloe A; Fellers, Greg K; Magdesian, K Gary

    2017-01-01

    OBJECTIVE To compare results of point-of-care laboratory testing with standard veterinary clinical examination findings at a single time point during endurance competition to identify horses at risk for elimination. ANIMALS 101 endurance horses participating in the 2013 Western States 160-km (100-mile) endurance ride. PROCEDURES At the 58-km checkpoint, blood samples were collected from all horses. Samples were analyzed for pH, Pco2, base excess, anion gap, PCV, and whole blood concentrations of sodium, potassium, chloride, total carbon dioxide, BUN, glucose, and bicarbonate. Corrected electrolyte and PCV values were calculated on the basis of plasma total protein concentration. Immediately following the blood sample collection, each horse underwent a clinical examination. In addition to standard examination variables, an adjusted heart rate was calculated on the basis of the variable interval between entry into the checkpoint and heart rate recording. A combination of stepwise logistic regression, classification and regression tree analysis, and generalized additive models was used to identify variables that were associated with overall elimination or each of 3 other elimination categories (metabolic elimination, lameness elimination, and elimination for other reasons). RESULTS Corrected whole blood potassium concentration and adjusted heart rate were predictive for overall elimination. Breed, plasma total protein concentration, and attitude were predictive for elimination due to metabolic causes. Whole blood chloride concentration and corrected PCV were predictive for elimination due to lameness. Corrected PCV was predictive for elimination due to other causes. CONCLUSIONS AND CLINICAL RELEVANCE Results indicated that for horses in endurance competition, a combination of breed and clinical examination and laboratory variables provided the best prediction of overall elimination.

  3. 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.

  4. CT and clinical findings of peripheral primitive neuroectodermal tumour in children

    PubMed Central

    Xiao, Huijuan; Bao, Fengchang; Tan, Hongna; Wang, Bo; Liu, Wei

    2016-01-01

    Objective: To describe the clinical, CT and pathological findings of paediatric peripheral primitive neuroectodermal tumours (pPNETs) to enhance the recognition of these rare tumours. Methods: The clinical, CT and pathological findings of 18 paediatric patients with pPNETs confirmed by biopsy or surgical pathology were retrospectively reviewed. Results: The age of these 18 paediatric patients with pPNETs ranged from 4 months to 15 years, with a mean age of 7.7 years. The lesions of these 18 paediatric patients with pPNETs were located in the head and neck (n = 4), chest (n = 2), abdomen and pelvic cavity (n = 6), spine (n = 3), ilium (n = 2) and femur (n = 1). Immunohistochemical examination revealed Homer–Wright rosettes in seven lesions, and 94.4% of lesions showed consistent positive staining for CD99. On plain CT images, the majority of pPNETs showed lesions that were ill-defined (72.2%), irregularly shaped (83.3%), heterogeneous (66.7%) or hypodense masses (94.4%), and together with osteolytic bone destruction when the lesion originated in the bone. Calcifications were found in three lesions. After contrast administration, all soft-tissue masses were persistently enhanced heterogeneously with various cystic or necrotic regions, and 71.4% of them had linear enhancement. 94.4% of soft-tissue masses showed a moderate degree of enhancement. Seven cases had lymph node metastasis at diagnosis. Conclusion: Paediatric pPNET can involve any part of the body, and a large, ill-defined, aggressive soft-tissue mass and moderate heterogeneous enhancement with varying cystic regions and linear enhancement, with or without osteolytic bone destruction, on CT images could suggest the diagnosis. Advances in knowledge: Primitive neuroectodermal tumours constitute a rare type of malignant neuroectodermal tumours that have chromosomal translocations identical to Ewing's sarcoma, and reports about radiological characteristics of this disease in children are

  5. 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

  6. Diagnosis and neurosurgical treatment of glossopharyngeal neuralgia: clinical findings and 3-D visualization of neurovascular compression in 19 consecutive patients.

    PubMed

    Gaul, C; Hastreiter, P; Duncker, A; Naraghi, R

    2011-10-01

    Glossopharyngeal neuralgia is a rare condition with neuralgic sharp pain in the pharyngeal and auricular region. Classical glossopharyngeal neuralgia is caused by neurovascular compression at the root entry zone of the nerve. Regarding the rare occurrence of glossopharyngeal neuralgia, we report clinical data and magnetic resonance imaging (MRI) findings in a case series of 19 patients, of whom 18 underwent surgery. Two patients additionally suffered from trigeminal neuralgia and three from additional symptomatic vagal nerve compression. In all patients, ipsilateral neurovascular compression syndrome of the IX cranial nerve could be shown by high-resolution MRI and image processing, which was confirmed intraoperatively. Additional neurovascular compression of the V cranial nerve was shown in patients suffering from trigeminal neuralgia. Vagal nerve neurovascular compression could be seen in all patients during surgery. Sixteen patients were completely pain free after surgery without need of anticonvulsant treatment. As a consequence of the operation, two patients suffered from transient cerebrospinal fluid hypersecretion as a reaction to Teflon implants. One patient suffered postoperatively from deep vein thrombosis and pulmonary embolism. Six patients showed transient cranial nerve dysfunctions (difficulties in swallowing, vocal cord paresis), but all recovered within 1 week. One patient complained of a gnawing and burning pain in the cervical area. Microvascular decompression is a second-line treatment after failure of standard medical treatment with high success in glossopharyngeal neuralgia. High-resolution MRI and 3D visualization of the brainstem and accompanying vessels as well as the cranial nerves is helpful in identifying neurovascular compression before microvascular decompression procedure.

  7. [Sialadenosis of the parotid gland. Ultrastructural, clinical and experimental findings in disturbances of secretion (author's transl)].

    PubMed

    Donath, K

    1976-01-01

    Among the secretory disturbances ("Dyschylien") of salivary glands the sialadenosis of the parotid gland is a clinic and a morphologic definited entity. The typical clinical symptom is a bilateral, often recurrent, and painless swelling of the parotid gland. The characteristic pathological findings consist in an acinar cell hypertrophy without any inflammatory signs. According to this definition, sialadenosis has to be separated from those diseases of salivary glands, which are primarily altered by inflammation of the salivary tissue with secondary secretory disturbances. From flinical point of view it is possible to distinguish the following kinds of sialadenosis according to the syntropy with various diseases: Endocrine sialadenosis (in diabetes mellitus, dysfunction of gonads, pituitary gland, thyroid gland etc.); dystrophic-metabolic sialadenosis (malnutrition, avitaminosis, alcohilsm, chronic liver diseases etc.), and neurogenic sialadenosis (dysfunction of the vegetative nervous system, drug damages e.g. antihypertensive agents). The question arises, whether all forms of sialadenosis have a common etiology and a coincidental pathogenic factor. The following studies were carried out with the aim to find further details concerning the etiology and pathogenesis of sialadenosis. The study is based on the following material: a) 126 Biopsies of parotid glands from patients with sialadenosis (Register of salivary gland diseases at the Institute of Pathology, University of Hamburg, supported by Deutsche Forschungsgemeinschaft). This material was collected from 1965 to 1973. b) 80 Biopsies of parotid glands from patients with other diseases (parotitis [4]; acinic cell carcinoma [4]; other parotid and oral tumors [72]; for comparison. c) Experimental studies on the parotid salivary glands of Wistar-rats. The biopsies of the parotid glands were studied histologically, morphometrically, and ultrastructurally. The investigations centered on the ultrastruct of sialadenosis

  8. 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.

  9. Assessment and treatment of PTSD after a motor vehicle collision: Empirical findings and clinical observations

    PubMed Central

    Beck, J. Gayle; Coffey, Scott F.

    2007-01-01

    Individuals who experience a serious motor vehicle accident (MVA) are at increased risk for psychological problems, particularly Posttraumatic Stress Disorder (PTSD). In this article, we review the literature on PTSD among MVA survivors, with particular attention to available instruments to screen for and assess symptomatology of the disorder. Approaches to the treatment of PTSD in this population are reviewed, separated into interventions designed to prevent PTSD in unselected samples, treatment targeting individuals with Acute Stress Disorder that are designed to prevent subsequent development of PTSD, and therapy for individuals with chronic PTSD. Treatment process issues are discussed, in an effort to integrate empirical findings with clinical observations. The empirical literature suggests several approaches to treatment that have good potential outcomes, although continued work is needed to identify factors that predict treatment response, as well as augment individual-based treatment formats. PMID:18509507

  10. 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.

  11. Spontaneous rupture of the distal iliopsoas tendon: clinical and imaging findings, with anatomic correlations.

    PubMed

    Lecouvet, Frederic E; Demondion, Xavier; Leemrijse, Thibaut; Vande Berg, Bruno C; Devogelaer, Jean-Pierre; Malghem, Jacques

    2005-11-01

    We report the clinical and imaging findings in two elderly female patients with spontaneous rupture of the distal iliopsoas tendon from the lesser trochanter of the femur. We emphasize the key contribution of magnetic resonance (MR) imaging to this diagnosis and provide an anatomic correlation. Spontaneous rupture of the distal iliopsoas tendon should be kept in mind in the differential diagnosis of acute groin pain in the elderly. MR imaging enables positive diagnosis, by showing mass effect on the anterior aspect of the hip joint, proximal muscle thickening, and abnormal signal intensity, and by demonstrating interruption of the psoas tendon, whereas the distal insertion of the lateral portion of the iliacus muscle remains muscular and is preserved.

  12. Wharton's Jelly Derived Mesenchymal Stem Cells: Future of Regenerative Medicine? Recent Findings and Clinical Significance

    PubMed Central

    Kalaszczynska, Ilona; Ferdyn, Katarzyna

    2015-01-01

    Around 5 million annual births in EU and 131 million worldwide give a unique opportunity to collect lifesaving Wharton's jelly derived mesenchymal stem cells (WJ-MSC). Evidences that these cells possess therapeutic properties are constantly accumulating. Collection of WJ-MSC is done at the time of delivery and it is easy and devoid of side effects associated with collection of adult stem cells from bone marrow or adipose tissue. Likewise, their rate of proliferation, immune privileged status, lack of ethical concerns, nontumorigenic properties make them ideal for both autologous and allogeneic use in regenerative medicine applications. This review provides an outline of the recent findings related to WJ-MSC therapeutic effects and possible advantage they possess over MSC from other sources. Results of first clinical trials conducted to treat immune disorders are highlighted. PMID:25861624

  13. Acrodermatitis chronica atrophicans: histopathologic findings and clinical correlations in 111 cases.

    PubMed

    Brehmer-Andersson, E; Hovmark, A; Asbrink, E

    1998-05-01

    We studied 111 consecutive, untreated and serologically confirmed patients with acrodermatitis chronica atrophicans. Emphasis was on the histopathologic patterns of erythematous and fibrous lesions, and on an assay used to correlate histopathologic findings with such clinical features as fibrous nodules, ulnar bands and the pain reaction allodynia. There was a significant correlation between allodynia and signs of marked inflammation, but not between allodynia and neural and perineural cell infiltrates or fibrosis. Moreover, there was no significant correlation between serum IgG titers to Borrelia and the density of inflammatory cell infiltrates or the proportion of plasma cells in tissue. Histopathologic examination did not reveal any important differences between fibrous nodules, ulnar bands and sclerodermatous lesions. The histopathologic pattern is not diagnostic per se, but characteristic enough to alert the experienced pathologist.

  14. Use of Clinical Data to Predict Appendicitis in Patients with Equivocal US Findings.

    PubMed

    Athans, Brett S; Depinet, Holly E; Towbin, Alexander J; Zhang, Yue; Zhang, Bin; Trout, Andrew T

    2016-08-01

    Purpose To determine the incremental value of clinical data in patients with ultrasonographic (US) examinations that were interpreted as being equivocal for acute appendicitis. Materials and Methods Institutional review board approval, with a waiver of informed consent, was obtained for this analysis of clinical and imaging data in patients younger than 18 years old who were evaluated for acute appendicitis. Findings from US examinations were reported in a structured fashion, including two possible equivocal impressions. Clinical data were captured as Pediatric Appendicitis (PAS) or Alvarado scores and considered as categoric (high, intermediate, or low likelihood) and continuous variables to simulate stratification of equivocal US examinations to predict appendicitis. Receiver operating characteristic curves were used to define score cutoffs, and logistic regression was used to assess individual clinical variables as predictors of appendicitis. Results The study population was made up of 776 patients (mean age, 11.7 years ± 3.7), with 429 (55.2%) girls. A total of 203 (26%) patients had appendicitis. US had a negative predictive value of 96.2% and a positive predictive value of 93.3% for depicting appendicitis, with 89 of 782 (11.4%) equivocal examinations. Categoric PAS and Alvarado scores were equivocal for 59.5% (53 of 89) and 50.6% (45 of 89) of equivocal US examinations, respectively. Categoric low- and high-likelihood PAS and Alvarado scores correctly predicted the presence of appendicitis in 61.1% (22 of 36) and 77.3% (34 of 44) of equivocal US examinations, respectively. As continuous variables, a PAS or Alvarado score of 5 or lower could be used to exclude appendicitis, with a 80.8% (21 of 26) and 90% (18 of 20) negative predictive value, respectively. Conclusion The study confirms the excellent performance of US for depicting pediatric appendicitis. In the subset of equivocal US examinations, a low clinical score (≤5) may be used to identify patients

  15. Circulating Epithelial Cells in Patients with Pancreatic Lesions: Clinical and Pathologic Findings

    PubMed Central

    Cauley, Christy E; Pitman, Martha B; Zhou, Jiahua; Perkins, James; Kuleman, Birte; Liss, Andrew S; Castillo, Carlos Fernandez-del; Warshaw, Andrew L; Lillemoe, Keith D; Thayer, Sarah P

    2015-01-01

    Background Circulating epithelial cell (CEC) isolation has provided diagnostic and prognostic information for a variety of cancers, previously supporting their identity as circulating tumor cells in the literature. However, we report CEC findings in patients with benign, pre-malignant, and malignant pancreatic lesions using a size-selective filtration device. Study Design Peripheral blood samples were drawn from patients found to have pancreatic lesions on preoperative imaging at a surgical clinic. Blood was filtered using ScreenCell® devices, which were evaluated microscopically by a pancreatic cytopathologist. Pathological data and clinical outcomes of these patients were obtained from medical records over a one year follow-up period. Results Nine healthy volunteers formed the control group and were found to be negative for CECs. There were 179 patients with pancreatic lesions that formed the study cohort. CECs were morphologically similar in patients with a variety of pancreatic lesions. Specifically, CECs were identified in 51 of 105 pancreatic ductal adenocarcinomas (PDAC) (49%), 7 of 11 neuroendocrine tumors (64%), 13 of 21 intraductal papillary mucinous neoplasms (62%), and 6 of 13 patients with chronic pancreatitis. Rates of CEC identification were similar in patients with benign, premalignant, and malignant lesions (p=0.41). In addition, CECs findings in PDAC patients were not associated with poor prognosis. Conclusions While CECs were not identified in healthy volunteers, they were identified in patients with benign, premalignant, and malignant pancreatic lesions. The presence of CECs in patients presenting with pancreatic lesions is not diagnostic of malignancy, nor is it prognostic for patients with PDAC. PMID:26209458

  16. Integrating clinical trial findings into practice through risk stratification: the case of heart failure management.

    PubMed

    Smith, David H; Johnson, Eric S; Thorp, Micah L; Crispell, Kathy A; Yang, Xiuhai; Petrik, Amanda F

    2010-06-01

    Heart failure case management programs have been shown in clinical trials to be highly effective at preventing future hospitalizations. But the absolute benefits of these programs depend on the baseline risk of outcome in the treated population. Because baseline risks of hospitalization in trials are often higher than community-based samples, translating trial results to the community setting may be misleading. One solution is to identify subgroups for intervention that have sufficiently high baseline risk. Using estimates of hospitalizations averted from a previously published systematic review of heart failure management, we estimated a program's efficiency based on level of predicted risk. Medical history and demographic data on heart failure patients from a large integrated US health plan were used to build a logistic regression-based prognostic risk score for cardiovascular-related hospitalization over 1 year. We calculated the crude rate of hospitalizations for comparison with trial data. We also calculated the program's potential dollar savings from averting hospitalizations. The average risk of hospitalization in the systematic review's trials was 45%; our population's average observed risk was 18% and the risk among the highest risk patients was 33%. After accounting for the assumed annual intervention cost of $700, the base-case analysis (at $6000 per hospitalization) shows a savings of $122/patient at highest risk; failing to intervene according to predicted risk (no targeting) would actually cost $211/patient. Our findings illustrate how clinical trial findings can be efficiently integrated into community settings by using a prognostic risk score to focus attention on high-risk subgroups.

  17. Clinical and laboratory findings of childhood buckwheat allergy in a single tertiary hospital

    PubMed Central

    Park, Kyujung; Jeong, Kyunguk

    2016-01-01

    Purpose Buckwheat allergy is one of the most severe types of food allergy in some countries, especially among children. However, few studies have investigated this condition. The aim of this study was to report the clinical and laboratory findings in Korean children with buckwheat allergy. Methods Thirty-seven subjects, aged 1 to 14 years, were enrolled by retrospective medical record review from January 2000 through May 2015 at the Department of Pediatrics in Ajou University Hospital. The demographic profile, previous exposure to buckwheat pillows, clinical symptoms, and laboratory findings of each subject were recorded. Results Twenty-six of the 37 children had immediate-type allergic symptoms to buckwheat, while 11 subjects were tolerant to buckwheat. Seventeen out of 26 buckwheat allergic children (65.4%) had anaphylaxis. The median buckwheat specific IgE level in the buckwheat allergic group (7.71 kUA/L) was significantly higher (P<0.001) than in the buckwheat tolerant group (0.08 kUA/L) with an optimal cutoff value of 1.27 kUA/L (sensitivity 84.6%, specificity 100%). When adjusted for age, the difference between the 2 groups showed no statistical significance (P=0.063). In subjects who had anaphylaxis, buckwheat-specific IgE levels ranged from 0.37 to 100 kUA/L. Conclusion Almost two-thirds of buckwheat-allergic children had anaphylaxis, and a wide-range of buckwheat specific IgE levels were observed in these children. Anaphylaxis occurred in a subject with a remarkably low IgE level (0.37 kUA/L). PMID:27826326

  18. 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

  19. 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

  20. Roberts syndrome: study of 4 new Rgyptian cases with comparison of clinical and cytogenetic findings.

    PubMed

    Temtamy, S A; Ismail, S; Helmy, N A

    2006-01-01

    Roberts syndrome is a rare autosomal recessive genetic disorder (MIM 268300). It is characterized by pre and postnatal growth retardation, severe shortening of limbs with radial defects, oligodactyly and characteristic facial features. The present study reports 4 new cases of Roberts syndrome from 3 families presenting variable phenotypes. Patients were thoroughly investigated clinically and cytogenetically. By reviewing literature, we compared our cases to those previously reported. The rating severity system proposed by Van den Berg and Francke (30) was applied to correlate the phenotypic and cytogenetics changes. We observed more severe reduction defects in the upper limbs than in the lower limbs. While the main reduction defects in the upper limbs involved the thumb and radius ranging to phocomelia, absent or severely hypoplastic fibula was the main lower limb involvement. We emphasize this finding in the present investigation. Heterochromatin repulsion of chromosomes derived from Roberts syndrome patients is a characteristic cytogenetic abnormality. It was a constant finding in our studied patients demonstrated by DABI stain which supports the possibility that mutations in Roberts syndrome lie in centromere related proteins which may also play a role in body patterning. This was proved recently by Vega et al. (31). Application of the clinical rating score and its correlation with cytogenetic changes showed negative results. Cytogenetic studies in normal obligatory heterozygotes parents showed no changes. Phenotypic variability within the same family as well as between different families was observed. The ascertainment of 4 cases with Roberts syndrome from 3 Egyptian consanguineous families during one year in our department may indicate a high frequency of the Roberts syndrome allele among Egyptians. This confirms the need for molecular studies for early and accurate prenatal diagnosis to prevent such dramatic malformation syndrome.

  1. An evaluation of clinical, radiological and three-dimensional dental tomography findings in ectodermal dysplasia cases

    PubMed Central

    Doğan, Mehmet-Sinan; Callea, Michele; Aksoy, Orhan; Clarich, Gabriella; Günay, Ayşe; Günay, Ahmet; Güven, Sedat; Maglione, Michele; Akkuş, Zeki

    2015-01-01

    Background This study aimed to review the results related to head and jaw disorders in cases of ectodermal dysplasia. The evaluation of ectodermal dysplasia cases was made by clincal examination and examination of the jaw and facial areas radiologically and on cone-beam 3-dimensional dental tomography (CBCT) images. Material and Methods In the 36 cases evaluated in the study, typical clinical findings of pure hypohidrotic ectodermal displasia (HED) were seen, such as missing teeth, dry skin, hair and nail disorders. CBCT images were obtained from 12 of the 36 cases, aged 1.5- 45 years, and orthodontic analyses were made on these images. Results The clinical and radiological evaluations determined, hypodontia or oligodontia, breathing problems, sweating problems, a history of fever, sparse hair, saddle nose, skin peeling, hypopigmentation, hyperpigmentation, finger and nail deformities, conical teeth anomalies, abnormal tooth root formation, tooth resorption in the root, gingivitis, history of epilepsy, absent lachrymal canals and vision problems in the cases which included to the study. Conclusions Ectodermal dysplasia cases have a particular place in dentistry and require a professional, multi-disciplinary approach in respect of the chewing function, orthognathic problems, growth, oral and dental health. It has been understood that with data obtained from modern technologies such as three-dimensional dental tomography and the treatments applied, the quality of life of these cases can be improved. Key words: Ectodermal dysplasia, three-dimensional dental tomography. PMID:25662550

  2. Curcumin in depressive disorders: An overview of potential mechanisms, preclinical and clinical findings.

    PubMed

    Kaufmann, Fernanda Neutzling; Gazal, Marta; Bastos, Clarissa Ribeiro; Kaster, Manuella Pinto; Ghisleni, Gabriele

    2016-08-05

    Considering the high prevalence of psychiatric disorders, its social burden and the limitations of currently available treatments, alternative therapeutic approaches targeting different biological pathways have been investigated. Curcumin is a natural compound with multi-faceted pharmacological properties, interacting with several neurotransmitter systems and intracellular signaling pathways involved in mood regulation. Also, curcumin has anti-inflammatory, antioxidant and neurotrophic effects, suggesting a strong potential to manage conditions associated with neurodegeneration, such as psychiatric disorders. Most literature data focused on the potential of curcumin to counteract behavioral and neurochemical alterations in preclinical models of depression. The findings still need to be further explored and clinical reports share some controversial results that might be associated with its low systemic bioavailability following oral administration. Other psychiatric disorders also have neurochemical alterations similar to those found in depression, including neurotoxicity, oxidative stress and neuroinflammation. Despite the limited number of reports, preclinical models investigated the potential role for curcumin in anxiety, bipolar disorder, post-traumatic stress disorder and autism spectrum disorders. Here, we will summarize the cellular targets of curcumin relevant to psychiatric disorders and its effects in preclinical and clinical studies with depression, anxiety disorders and other psychiatric related conditions.

  3. Epidemiological, clinical and laboratory findings of infectious keratitis at Mansoura Ophthalmic Center, Egypt

    PubMed Central

    Badawi, Amani E; Moemen, Dalia; El-Tantawy, Nora L

    2017-01-01

    AIM To analyze the epidemiological, clinical and laboratory findings of infectious keratitis. METHODS A retrospective study on cases of infective keratitis, attended our institution from Mar. 2013 to Feb. 2015, was done at Mansoura Ophthalmic Center, Egypt. Corneal scrapings were performed and processed for direct microscopy and culture in appropriate media using standard laboratory protocols. RESULTS Out of 245 patients enrolled for study, 247 corneal scrapings were obtained. Ocular trauma was the most common predisposing factor (51.4%), followed by diabetes mellitus (15.1%). Cultures were positive in 110 scraping samples (44.5%): 45.5% samples had pure fungal infection, 40% had pure bacterial infections and 10% had mixed fungal and bacterial growths. Acanthamoeba was detected in 5 (4.5%) samples. The most common fungal pathogen was Aspergillus spp. (41%). The most common bacterial isolates were Staphylococcus aureus (38.2%) and Pseudomonas aeruginosa (21.8%). CONCLUSION Incidence of fungal keratitis is high in our region. Therapeutic approach can initially be based on clinical features and sensitivity/resistance patterns. Microbiological research should direct the antimicrobial treatment. Antibiotic resistance to fluoroquinolones and aminoglycosides is an important consideration. PMID:28149778

  4. Characterization of Change and Significance for Clinical Findings in Radiology Reports Through Natural Language Processing.

    PubMed

    Hassanpour, Saeed; Bay, Graham; Langlotz, Curtis P

    2017-01-03

    We built a natural language processing (NLP) method to automatically extract clinical findings in radiology reports and characterize their level of change and significance according to a radiology-specific information model. We utilized a combination of machine learning and rule-based approaches for this purpose. Our method is unique in capturing different features and levels of abstractions at surface, entity, and discourse levels in text analysis. This combination has enabled us to recognize the underlying semantics of radiology report narratives for this task. We evaluated our method on radiology reports from four major healthcare organizations. Our evaluation showed the efficacy of our method in highlighting important changes (accuracy 99.2%, precision 96.3%, recall 93.5%, and F1 score 94.7%) and identifying significant observations (accuracy 75.8%, precision 75.2%, recall 75.7%, and F1 score 75.3%) to characterize radiology reports. This method can help clinicians quickly understand the key observations in radiology reports and facilitate clinical decision support, review prioritization, and disease surveillance.

  5. Desirable attributes of the ambulance technician, paramedic, and clinical supervisor: findings from a Delphi study

    PubMed Central

    Kilner, T

    2004-01-01

    Methods: The Delphi technique was used to gain a consensus view from a panel of experts. The first round of the study asked the experts to list the attributes they believed were desirable for the ambulance technician, the ambulance paramedic, and the clinical supervisor. The first round of the study generated 3403 individual statements that were collapsed into 25 broad categories, which were returned to the experts, who were required to rate each of the attributes along a visual analogue scale in respect of each of the identified occupational groups. Results: On completion of the second round the data were analysed to demonstrate rank ordering of desirable attributes by occupational group. The level of agreement within each group was determined by analysis using the Kendall coefficient of concordance. This showed high levels of agreement within the technician group but less agreement within the paramedic and clinical supervisor group. All were highly significant p<0.0001. Conclusions: There was significant agreement among the experts as to the desirable attributes of ambulance staff, many of which do not feature in existing ambulance training curriculums. The findings of this study may therefore be of value in informing future curriculum development and in providing guidance for the selection of staff for each of the occupational groups. PMID:15107388

  6. Findings among 100 type 2 diabetics in a clinic in Penang, Malaysia, 1983-84.

    PubMed

    Merriman, A; Ross, I

    1985-04-01

    A Specialist Clinic was commenced in August 1983, from the Medical School at Universiti Sains Malaysia, Penang, Malaysia to assess: 1) the present control and 2) the incidence of complications in a diabetic population already receiving primary health care at Penang General Hospital. The ethnic groups among the diabetics were Chinese (39%), Malays (26%) and Indian (35%). There was a greater percentage of Indians than would be expected from the ethnic distribution of the population of Penang. The results of the first 100 (43 males and 57 females) non-insulin dependent diabetic patients are reviewed. The mean age was 54 years, 41% had relatives with diabetes, and all were taking oral agents. The diet comprehension and compliance were poor. 65% of the group, 54% of males and 75% of females were obese. The mean blood glucose was 11 m.mols/l (fasting) and 12.8 m.mols/1 (2 hours post prandial). The complications seen in the 100 diabetics were: albuminurea 41, skin infection 37, cataracts 35, hypertension 32, peripheral sensory neuropathy 32, retinopathy 22, ischaemic heart disease 19, autonomic neuropathy 10, impaired renal function 4 (urea or creatinine elevated), foot ulcer 2 and gangrene 1. Urinalysis for glucose at the Clinic showed very little correlation with blood glucose at the same time. Nine out of 43 males admitted to impotence on questioning. Comparisons of findings in Penang were made with recent studies in Singapore and Hong Kong.

  7. 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

  8. 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

  9. Spontaneous Renal Artery Dissection as a Cause of Acute Renal Infarction: Clinical and MDCT Findings.

    PubMed

    Yoon, Kibo; Song, Soon Young; Lee, Chang Hwa; Ko, Byung Hee; Lee, Seunghun; Kang, Bo Kyeong; Kim, Mi Mi

    2017-04-01

    The purpose of this study was to assess the incidence of spontaneous renal artery dissection (SRAD) as a cause of acute renal infarction, and to evaluate the clinical and multidetector computed tomography (MDCT) findings of SRAD. From November 2011 to January 2014, 35 patients who were diagnosed with acute renal infarction by MDCT were included. We analyzed the 35 MDCT data sets and medical records retrospectively, and compared clinical and imaging features of SRAD with an embolism, using Fisher's exact test and the Mann-Whitney test. The most common cause of acute renal infarction was an embolism, and SRAD was the second most common cause. SRAD patients had new-onset hypertension more frequently than embolic patients. Embolic patients were found to have increased C-reactive protein (CRP) more often than SRAD patients. Laboratory results, including tests for lactate dehydrogenase (LDH) and blood urea nitrogen (BUN), and the BUN/creatinine ratio (BCR) were significantly higher in embolic patients than SRAD patients. Bilateral renal involvement was detected in embolic patients more often than in SRAD patients. MDCT images of SRAD patients showed the stenosis of the true lumen, due to compression by a thrombosed false lumen. None of SRAD patients progressed to an estimated glomerular filtration rate < 60 mL/min/1.73 m² or to end-stage renal disease during the follow-up period. SRAD is not a rare cause of acute renal infarction, and it has a benign clinical course. It should be considered in a differential diagnosis of acute renal infarction, particularly in patients with new-onset hypertension, unilateral renal involvement, and normal ranges of CRP, LDH, BUN, and BCR.

  10. Malabsorption syndrome with cow's milk intolerance. Clinical findings and course in 54 cases.

    PubMed Central

    Kuitunen, P; Visakorpi, J K; Savilahti, E; Pelkonen, P

    1975-01-01

    Fifty-four infants with the malabsorption syndrome and cow's milk intolerence seen during 1962-1971 were investigated. All had diarrhoea and failed to thrive. Most had vomiting and about 20% had atopic eczema and recurrent respiratory infections. Laboratory investigations revealed malabsorption, raised serum IgA, and precipitins to cow's milk. Biopsies showed that the jejunal mucosa was damaged, and in about half the cases was flat. The patient did well on human milk but reacted clinically to cow's milk challenge, either in a few hours or gradually during 3-4 weeks. Some patients showed first a quick, but later a slow, reaction. Clinical symptoms of cow's milk intolerance disappeared at the age of about one year. At that time 81% had normal faecal fat, but only 29% had a normal proximal jejunal mucosa. Many of the patients developed intolerances to other food proteins, such as soya and wheat, if these were given during the sensitive period. Forty-two patients have been followed up for 2 years on a normal gluten-containing diet. Of these, 37 have a normal or nearly normal jejunal mucosa and 5 (12%) have subtotal villous atrophy indicative of coeliac disease. It is concluded that the malabsorption syndrome with cow's milk intolerance is a clear-cut clinical entity. However, the symptomatology, results of laboratory tests, and jejunal biopsy findings closely resemble those of other entities where damage to the intestinal mucosa causes a malabsorption snydrome. Follow-up studies showed that the disease is transient, but about 10% of the patients have coeliac disease, regarded in such cases as the primary disorder. PMID:1242623

  11. 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

  12. Demographic and Clinical Findings in Pediatric Patients Affected by Organic Acidemia

    PubMed Central

    NAJAFI, Reza; HASHEMIPOUR, Mahin; MOSTOFIZADEH, Neda; GHAZAVI, Mohammadreza; NASIRI, Jafar; SHAHSANAI, Armindokht; FAMORI, Fatemeh; NAJAFI, Fatemeh; MOAFI, Mohammad

    2016-01-01

    Objective Metabolic disorders, which involve many different organs, can be ascribed to enzyme deficiency or dysfunction and manifest with a wide range of clinical symptoms. This study evaluated some of the demographic and clinical findings in pediatric patients affected by organic acidemia. Materials & Methods This cross-sectional study was part of a larger study conducted in patients with metabolic disorders during a period of 7 years from 2007 to 2014 in Isfahan Province, Iran. Our study covered a wide range of cases from newborn infants (one-week old) to adolescents (children up to the age of 17 years). This study evaluated patients’ demographic information, history of disease, developmental and educational status, clinical and general conditions. Phone and in-person interviews were used to gather information. Results Out of 5100 patients screened in this study, 392 patients were affected by one of the different metabolic disorders and 167 individuals were diagnosed as organic acidemia. Propionic acidemia/methyl malonic acidemia (PA/MMA) was the most prevalent form of this metabolic disorder. The frequency of consanguinity was 84.7% in the group of patients. The mortality rate was 18.8% in patients with organic academia. Conclusion Each of the metabolic diseases, as a separate entity, is rare; nevertheless, in aggregate they have a somewhat high overall prevalence. These diseases result in mental and developmental disorders in the absence of quick diagnosis and initiation of treatment. Furthermore, more mutations should be identified in societies affected by consanguinity. Further research should also be conducted to determine worthwhile and more-efficient screening methods as well as long term neurological prognosis. PMID:27247587

  13. 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

  14. Spontaneous Renal Artery Dissection as a Cause of Acute Renal Infarction: Clinical and MDCT Findings

    PubMed Central

    2017-01-01

    The purpose of this study was to assess the incidence of spontaneous renal artery dissection (SRAD) as a cause of acute renal infarction, and to evaluate the clinical and multidetector computed tomography (MDCT) findings of SRAD. From November 2011 to January 2014, 35 patients who were diagnosed with acute renal infarction by MDCT were included. We analyzed the 35 MDCT data sets and medical records retrospectively, and compared clinical and imaging features of SRAD with an embolism, using Fisher's exact test and the Mann-Whitney test. The most common cause of acute renal infarction was an embolism, and SRAD was the second most common cause. SRAD patients had new-onset hypertension more frequently than embolic patients. Embolic patients were found to have increased C-reactive protein (CRP) more often than SRAD patients. Laboratory results, including tests for lactate dehydrogenase (LDH) and blood urea nitrogen (BUN), and the BUN/creatinine ratio (BCR) were significantly higher in embolic patients than SRAD patients. Bilateral renal involvement was detected in embolic patients more often than in SRAD patients. MDCT images of SRAD patients showed the stenosis of the true lumen, due to compression by a thrombosed false lumen. None of SRAD patients progressed to an estimated glomerular filtration rate < 60 mL/min/1.73 m2 or to end-stage renal disease during the follow-up period. SRAD is not a rare cause of acute renal infarction, and it has a benign clinical course. It should be considered in a differential diagnosis of acute renal infarction, particularly in patients with new-onset hypertension, unilateral renal involvement, and normal ranges of CRP, LDH, BUN, and BCR. PMID:28244286

  15. Vestibular Migraine in Children and Adolescents: Clinical Findings and Laboratory Tests

    PubMed Central

    Langhagen, Thyra; Lehrer, Nicole; Borggraefe, Ingo; Heinen, Florian; Jahn, Klaus

    2015-01-01

    Introduction: Vestibular migraine (VM) is the most common cause of episodic vertigo in children. We summarize the clinical findings and laboratory test results in a cohort of children and adolescents with VM. We discuss the limitations of current classification criteria for dizzy children. Methods: A retrospective chart analysis was performed on 118 children with migraine related vertigo at a tertiary care center. Patients were grouped in the following categories: (1) definite vestibular migraine (dVM); (2) probable vestibular migraine (pVM); (3) suspected vestibular migraine (sVM); (4) benign paroxysmal vertigo (BPV); and (5) migraine with/without aura (oM) plus vertigo/dizziness according to the International Classification of Headache Disorders, 3rd edition (beta version). Results: The mean age of all patients was 12 ± 3 years (range 3–18 years, 70 females). 36 patients (30%) fulfilled criteria for dVM, 33 (28%) for pVM, 34 (29%) for sVM, 7 (6%) for BPV, and 8 (7%) for oM. Somatoform vertigo (SV) co-occurred in 27% of patients. Episodic syndromes were reported in 8%; the family history of migraine was positive in 65%. Mild central ocular motor signs were found in 24% (most frequently horizontal saccadic pursuit). Laboratory tests showed that about 20% had pathological function of the horizontal vestibulo-ocular reflex, and almost 50% had abnormal postural sway patterns. Conclusion: Patients with definite, probable, and suspected VM do not differ in the frequency of ocular motor, vestibular, or postural abnormalities. VM is the best explanation for their symptoms. It is essential to establish diagnostic criteria in clinical studies. In clinical practice, however, the most reasonable diagnosis should be made in order to begin treatment. Such a procedure also minimizes the fear of the parents and children, reduces the need to interrupt leisure time and school activities, and prevents the development of SV. PMID:25674076

  16. Malabsorption syndrome with cow's milk intolerance. Clinical findings and course in 54 cases.

    PubMed

    Kuitunen, P; Visakorpi, J K; Savilahti, E; Pelkonen, P

    1975-05-01

    Fifty-four infants with the malabsorption syndrome and cow's milk intolerence seen during 1962-1971 were investigated. All had diarrhoea and failed to thrive. Most had vomiting and about 20% had atopic eczema and recurrent respiratory infections. Laboratory investigations revealed malabsorption, raised serum IgA, and precipitins to cow's milk. Biopsies showed that the jejunal mucosa was damaged, and in about half the cases was flat. The patient did well on human milk but reacted clinically to cow's milk challenge, either in a few hours or gradually during 3-4 weeks. Some patients showed first a quick, but later a slow, reaction. Clinical symptoms of cow's milk intolerance disappeared at the age of about one year. At that time 81% had normal faecal fat, but only 29% had a normal proximal jejunal mucosa. Many of the patients developed intolerances to other food proteins, such as soya and wheat, if these were given during the sensitive period. Forty-two patients have been followed up for 2 years on a normal gluten-containing diet. Of these, 37 have a normal or nearly normal jejunal mucosa and 5 (12%) have subtotal villous atrophy indicative of coeliac disease. It is concluded that the malabsorption syndrome with cow's milk intolerance is a clear-cut clinical entity. However, the symptomatology, results of laboratory tests, and jejunal biopsy findings closely resemble those of other entities where damage to the intestinal mucosa causes a malabsorption snydrome. Follow-up studies showed that the disease is transient, but about 10% of the patients have coeliac disease, regarded in such cases as the primary disorder.

  17. 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

  18. 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.

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

    PubMed Central

    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

  20. 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.

  1. 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.

  2. An image feature-based approach to automatically find images for application to clinical decision support.

    PubMed

    Stanley, R Joe; De, Soumya; Demner-Fushman, Dina; Antani, Sameer; Thoma, George R

    2011-07-01

    The illustrations in biomedical publications often provide useful information in aiding clinicians' decisions when full text searching is performed to find evidence in support of a clinical decision. In this research, image analysis and classification techniques are explored to automatically extract information for differentiating specific modalities to characterize illustrations in biomedical publications, which may assist in the evidence finding process. Global, histogram-based, and texture image illustration features were compared to basis function luminance histogram correlation features for modality-based discrimination over a set of 742 manually annotated images by modality (radiological, photo, etc.) selected from the 2004-2005 issues of the British Journal of Oral and Maxillofacial Surgery. Using a mean shifting supervised clustering technique, automatic modality-based discrimination results as high as 95.57% were obtained using the basis function features. These results compared favorably to other feature categories examined. The experimental results show that image-based features, particularly correlation-based features, can provide useful modality discrimination information.

  3. 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

  4. Prognostic significance of COX-2 expression and correlation with Bcl-2 and VEGF expression, microvessel density, and clinical variables in classical Hodgkin lymphoma.

    PubMed

    Koh, Young Wha; Park, Chansik; Yoon, Dok Hyun; Suh, Cheolwon; Huh, Jooryung

    2013-08-01

    Vascular endothelial growth factor (VEGF) and cyclooxygenase-2 (COX-2) play important roles in tumor angiogenesis. Recent reports found that COX-2 expression had prognostic value in classical Hodgkin lymphoma (cHL). The purpose of this study was to measure the expression of COX-2, B-cell lymphoma-2 (Bcl-2), VEGF, and CD31 and assess their prognostic significance and potential correlation with clinical variables in cHL. A total of 167 cHL specimens were evaluated retrospectively by immunohistochemical methods for COX-2, Bcl-2, and VEGF expression and for CD31 to measure the microvessel density (MVD). Correlations between COX-2, Bcl-2, VEGF, MVD, and clinicopathologic factors were assessed, and prognostic significance was determined. COX-2, Bcl-2, and VEGF were expressed in 27.5%, 8.3%, and 33.5% of the specimens, respectively. A positive correlation was found between COX-2 and VEGF expression (P<0.001). The MVD was significantly higher in tumors positive for both COX-2 and VEGF compared with that in tumors negative for both markers (P=0.047). COX-2 expression was associated with a lower overall survival rate (P=0.015). High MVD was associated with a lower event-free survival rate (P=0.014). COX-2 was an independent prognostic factor for overall survival on multivariate analysis (P=0.013). COX-2 and VEGF correlated with angiogenesis and tumor progression in cHL. The findings support targeting COX-2 as a potential new therapeutic approach in cHL.

  5. 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

  6. 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…

  7. Non-Classical Congenital Adrenal Hyperplasia in Childhood

    PubMed Central

    Kurtoğlu, Selim; Hatipoğlu, Nihal

    2017-01-01

    Congenital adrenal hyperplasia (CAH) is classified as classical CAH and non-classical CAH (NCCAH). In the classical type, the most severe form comprises both salt-wasting and simple virilizing forms. In the non-classical form, diagnosis can be more confusing because the patient may remain asymptomatic or the condition may be associated with signs of androgen excess in the postnatal period or in the later stages of life. This review paper will include information on clinical findings, symptoms, diagnostic approaches, and treatment modules of NCCAH. PMID:27354284

  8. 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.

  9. 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.

  10. 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

  11. Could Psoriatic Arthritis Be Easily Diagnosed from Current Suspicious Physical Findings in the Dermatology Clinic?

    PubMed Central

    Choi, Jee Woong; Kim, Bo Ri; Seo, Eunmi

    2017-01-01

    Background The prevalence and clinical characteristics of psoriatic arthritis (PsA) in patients with psoriasis are not well described in Asian populations, including Koreans. Objective The purpose of this study was to investigate the prevalence of PsA by using the classification of psoriatic arthritis (CASPAR) criteria on the basis of physical examination only, as well as its correlation with psoriasis severity and other medical conditions including nail psoriasis. Methods A single-center, cross-sectional observational cohort study was conducted, and the included patients were evaluated for PsA according to the CASPAR criteria. The psoriasis area severity index (PASI) and the nail psoriasis severity index (NAPSI) were calculated. Results The prevalence of PsA in patients with psoriasis in Korea was 13.5%. When performing logistic regression, hyperlipidemia and localized pustular psoriasis were found to be significant predictors of PsA. The PASI score was significantly higher in PsA patients than in those with psoriasis alone (p=0.014). Psoriatic nail involvement was found in 85.5% of the study population, and all PsA patients had nail psoriasis. The mean NAPSI score was higher in patients with PsA; however, the difference was not statistically significant. Conclusion There was a close relation between psoriasis severity and PsA, although nail psoriasis severity was not related to PsA status. Dermatologists can diagnose PsA from current physical findings by using the CASPAR criteria. To validate the CASPAR criteria for PsA diagnosis, the definition of nail psoriasis clinical types and severity in the CASPAR criteria should be reviewed again. PMID:28223746

  12. Lyme disease-related intracranial hypertension in children: clinical and imaging findings.

    PubMed

    Ramgopal, Sriram; Obeid, Rawad; Zuccoli, Giulio; Cleves-Bayon, Catalina; Nowalk, Andrew

    2016-03-01

    Lyme disease (LD) is a tick-borne infection that is endemic to multiple areas of the United States. Patients with LD may present with sign and symptoms of intracranial hypertension (IH). The objective of this study is to evaluate the history, clinical findings, CSF analysis, and brain imaging results in pediatric patients with increased intracranial pressure secondary to LD. A retrospective database search was performed using the International Classification of Diseases (ICD) 9/10 codes to identify patients diagnosed with LD and IH between 2004 and 2014 at a tertiary referral pediatric hospital. Clinical, laboratory and neuroimaging data for each patient were reviewed. Seven patients met inclusion criteria; mean age was 9.6 years (standard deviation 4.0 years); 4/7 patients were male. Average body mass index was 18.8 kg/m(2) (standard deviation 3.0 kg/m(2)). Fever was present in four patients. Four had a history of LD related erythema migrans. All had elevated CSF opening pressure with leukocytosis and lymphocytic predominance. MRI obtained in six patients showed contrast enhancement of various cranial nerves. Tentorial enhancement was noted in all patients. In addition, patients had widening of the optic nerve sheath (ONS), optic nerve protrusion, and flattening of the posterior globe consistent with increased intracranial pressure. All patients had resolution of their symptoms after initiation of antibiotic therapy. In endemic areas, LD should be included in the differential of IH. MRI can help distinguish IH due to LD from its idiopathic form due to the presence of tentorial and cranial nerve enhancement in the former in addition to abnormal CSF showing leukocytosis with lymphocyte predominance.

  13. Clinical and laboratory findings in chronic conjunctivitis in cats: 91 cases (1983-1991).

    PubMed

    Nasisse, M P; Guy, J S; Stevens, J B; English, R V; Davidson, M G

    1993-09-15

    Clinical findings and laboratory test results from 91 cats with chronic conjunctivitis were studied to determine the causes of the disease and the sensitivity of diagnostic procedures used, and to identify correlations between results of various diagnostic procedures and clinical or signalment variations. Mean age of affected cats was 2.9 +/- 2.7 years (+/- SD), with a range from 1 month to 11 years. Conjunctivitis was more likely to be bilateral (56 cats) than unilateral (35 cats). In cats tested for FeLV or feline immunodeficiency virus infection, 15 and 8.5%, respectively, of the results were positive, compared with 4 and 2.6% for the general hospital population. Culturing or immunofluorescent assay (IFA) for feline herpesvirus 1 (FHV-1) and Chlamydia psittaci IFA resulted in identification of pathogens (positive test results) in 19% (FHV-1) and 18% (C psittaci) of tested cats. For FHV-1, culturing was more sensitive than was IFA, yielding positive results in 19 vs 8.8% of cases. In only 1 cat were FHV-1 and chlamydiae recovered. The probability of positive test results for FHV-1 or chlamydiae was unrelated to concurrent corneal disease, unilateral vs bilateral involvement, or age. Cause of conjunctivitis could not be definitively determined in the remaining 35 cases tested for both agents. Bacterial species considered to be potentially pathogenic were isolated from conjunctival sac specimens in only 1 of 38 attempts. Cytologic changes considered compatible with chlamydial or FHV-1 infection (intracytoplasmic inclusions or multinucleated epithelial cells, respectively) were found in 8 and 5 cases, respectively.(ABSTRACT TRUNCATED AT 250 WORDS)

  14. Post-concussion symptoms in mild traumatic brain injury: findings from a paediatric outpatient clinic.

    PubMed

    Dillard, Charles; Ditchman, Nicole; Nersessova, Karine; Foster, Nicola; Wehman, Paul; West, Michael; Riedlinger, Brendalin; Monasterio, Eugenio; Shaw, Bill; Neblett, Julie

    2017-03-01

    Purpose Mild traumatic brain injury (mTBI) is common among children and is associated with a range of symptomatology and clinical presentations. This study uses data from a paediatric outpatient TBI clinic to (1) investigate characteristics associated with more severe post-concussive symptoms and (2) examine differences in the proportion of individuals endorsing specific post-concussion symptoms based on group (e.g., sex, type of injury, and psychiatric history). Methods Data from the Children's Hospital of Richmond's TBI outpatient programme were analysed (N = 157). Results Gender and sports injury were associated with severity of symptoms. In addition, females endorsed a greater number of overall symptoms than males. A number of specific symptoms were found to be endorsed to a greater extent based on psychiatric history and type of injury; however, overall total number of symptoms endorsed did not differ based on these characteristics. Conclusions Findings from this study provide further evidence that mTBI affects a wide range of youth and that associated symptomatology can indeed be varied. Moreover, results revealed differences in endorsement of specific symptoms and symptom severity based on patient and injury characteristics which have implications for concussion assessment and treatment. Implications for Rehabilitation Symptoms following mild traumatic brain injury (mTBI) in children and adolescents can have varied presentation, ranging from minimal to severe. Females and those with non-sports-related injuries are more likely to endorse greater symptoms following concussion. Symptom evaluation is an essential component of the concussion assessment and treatment of paediatric patients following mTBI, and clinicians should be aware of patient characteristics associated with increased symptoms, especially when baseline symptom data are not available.

  15. 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.

  16. Nuclear medicine in the acute clinical setting: indications, imaging findings, and potential pitfalls.

    PubMed

    Uliel, Livnat; Mellnick, Vincent M; Menias, Christine O; Holz, Andrew L; McConathy, Jonathan

    2013-01-01

    Nuclear medicine imaging provides valuable functional information that complements information obtained with anatomic imaging techniques in the evaluation of patients with specific acute clinical manifestations. Nuclear medicine studies are most often used in conjunction with other imaging modalities and as a problem-solving tool. Under certain circumstances a nuclear medicine study may be indicated as the first-line imaging modality, as in the case of renal scintigraphy for transplant dysfunction in the early postoperative period. Nuclear imaging may be preferred when a conventional first-line study is contraindicated or when it is important to minimize radiation exposure. The portability of nuclear imaging offers particular advantages for the evaluation of critically ill patients whose clinical condition is unstable and who cannot be safely transported out of the intensive care unit. The ability to visualize physiologic and pathophysiologic processes over relatively long time periods without adding to the patient's radiation exposure contributes to the high diagnostic sensitivity of several types of nuclear medicine studies. Viewing the acquired images in the cine mode adds to the value of these studies for diagnosing and characterizing dynamic abnormalities such as intermittent internal bleeding and bile or urine leakage. In this pictorial review, the spectrum of nuclear medicine studies commonly performed in the acute care setting is reviewed according to body systems and organs, with detailed descriptions of the indications, technical considerations, findings, and potential pitfalls of each type of study. Supplemental material available at http://radiographics.rsna.org/lookup/suppl/doi:10.1148/rg.332125098/-/DC1.

  17. 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

  18. Spinal cord infarction: clinical and magnetic resonance imaging findings and short term outcome

    PubMed Central

    Masson, C; Pruvo, J; Meder, J; Cordonnier, C; Touze, E; de la Sayette, V; Giroud, M; Mas, J; Leys, D

    2004-01-01

    Background: Most studies on spinal cord infarction have been conducted in single centres; they usually consisted of case reports, or of larger series of patients recruited over a large period of time, with heterogeneous diagnostic procedures. Therefore, the clinical and radiological presentation of spinal cord infarcts and their short term outcome remain poorly understood. Objective: To define clinical and magnetic resonance imaging (MRI) findings, and short term outcome in patients with spinal cord infarcts. Methods: The authors prospectively included patients within 10 days of onset. An MRI scan was required and repeated when initially normal. Results: Twenty eight consecutive patients were included over a 24 month period in 16 neurological centres. The infarct was cervical in seven patients, thoracic in three, thoracolumbar in 15, and restricted to the conus in three. On axial MRI scans the infarct was located in the central territory of the anterior spinal artery in 21 patients, and in the peripheral arterial territory in three. At month two, 15 patients had a good outcome and 13 had a poor outcome, including three deaths. Patients who, at onset, could not walk, had bladder dysfunction, or proprioceptive deficits were more likely to have a poor outcome. At month two, pain had occurred in 10 of the 25 survivors and was associated neither with the initial severity, nor the extent of the infarct on MRI. Conclusion: The two month outcome mainly depends on the initial severity of the neurological deficit; however, a few patients with a severe impairment at onset had a good outcome, especially when proprioception remained normal at onset. The study does not support the hypothesis that pain occurs more frequently in small spinal infarcts. PMID:15377691

  19. Clinical, laboratory and pathological findings in dogs experimentally infected with Angiostrongylus vasorum.

    PubMed

    Schnyder, Manuela; Fahrion, Anna; Riond, Barbara; Ossent, Pete; Webster, Pia; Kranjc, Asja; Glaus, Tony; Deplazes, Peter

    2010-11-01

    The aim of this comparative study was to investigate the development of clinical signs and accompanying haematological, coproscopic and pathological findings as a basis for the monitoring of health condition of Angiostrongylus vasorum infected dogs. Six beagles were orally inoculated with 50 (n=3) or 500 (n=3) A. vasorum third stage larvae (L3) obtained from experimentally infected Biomphalaria glabrata snails. Two dogs were treated with moxidectin/imidacloprid spot-on solution and two further dogs with an oral experimental compound 92 days post infection (dpi), and were necropsied 166 dpi. Two untreated control dogs were necropsied 97 dpi. Prepatency was 47-49 days. Dogs inoculated with 500 L3 exhibited earlier (from 42 dpi) and more severe respiratory signs. Clinical signs resolved 12 days after treatment and larval excretion stopped within 20 days in all four treated dogs. Upon necropsy, 10 and 170 adult worms were recovered from the untreated dogs inoculated with 50 and 500 L3, respectively. Adult worms were also found in two treated dogs, in the absence of L1 or eggs. Despite heavy A. vasorum infection load and severe pulmonary changes including vascular thrombosis, only mild haematological changes were observed. Eosinophilia was absent but the presence of plasma cells was observed. Neutrophilic leucocytes showed a transient increase but only after treatment. Signs for coagulopathies were slight; nevertheless coagulation parameters were inoculation dose dependent. Ten weeks after treatment pulmonary fibrosis was still present. Infections starting from 50 L3 of A. vasorum had a massive impact on lung tissues and therefore on the health of affected dogs, particularly after prepatency, although only mild haematological abnormalities were evident.

  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. Bipolar II disorder family history using the family history screen: findings and clinical implications.

    PubMed

    Benazzi, Franco

    2004-01-01

    Psychiatric family history of bipolar II disorder is understudied. The aims of the current study were to find the psychiatric family history of bipolar II patients using a new structured interview, the Family History Screen by Weissman et al (2000), and to find bipolar disorders family history predicting power for the diagnosis of bipolar II. One hundred sixty-four consecutive unipolar major depressive disorder (MDD) and 241 consecutive bipolar II major depressive episode (MDE) outpatients were interviewed with the Structured Clinical Interview for DSM-IV (SCID). The Family History Screen was used. Sensitivity and specificity of predictors of the diagnosis of bipolar II (bipolar [type I and II] family history, bipolar II family history, atypical depression, depressive mixed state, many MDE recurrences, early onset) were studied. Bipolar II subjects had significantly more bipolar I, more bipolar II (50.7%), more MDE, and more social phobia in first-degree relatives than did unipolar subjects. Bipolar II subjects had many more first-degree relatives with bipolar II than with bipolar I. Among the predictors of the diagnosis of bipolar II, bipolar II family history had the highest specificity (82.8%), while early onset had the highest sensitivity. Discriminant analysis of predictor variables found that bipolar II family history and early onset were highly significant predictors. In conclusion, bipolar II family history was common in bipolar II patients, and it had high specificity for predicting bipolar II. If detected, it could reduce bipolar II misdiagnosis by inducing careful probing for a history of hypomania.

  2. Electroencephalographic coherence analysis in multiple sclerosis: correlation with clinical, neuropsychological, and MRI findings

    PubMed Central

    Leocani, L.; Locatelli, T.; Martinelli, V.; Rovaris, M.; Falautano, M.; Filippi, M.; Magnani, G.; Comi, G.

    2000-01-01

    OBJECTIVE—To explore functional corticocortical connections in multiple sclerosis by means of coherence of the EEG, and to evaluate their correlations with the degree of cognitive impairment and with brain lesion load assessed by MRI.
METHODS—EEG coherence was studied from 28 patients with clinically definite multiple sclerosis. Ten minutes of resting EEG were recorded with 20 scalp electrodes, with binaural reference. FFT power and coherence were calculated in artifact free epochs of 1 second and compared with values from 22 control subjects of comparable age and sex distribution. Patients also underwent MRI (n=27) and neuropsychological examination (n=21).
RESULTS—Compared with controls, patients with multiple sclerosis showed increased θ power in the frontotemporal-central regions (p<0.005). θ Band coherence was decreased between homologous areas (p<0.02). α Band coherence was decreased both in the local and long distance connections (p<0.0005). These findings were most striking both in patients with high MRI subcortical lesion load and in patients with cognitive involvement. A significant correlation was found between interhemispheric θ (p=0.02) and α (p=0.017) and anteroposterior α (p=0.013) coherence and subcortical MRI lesion load, but not with exclusively periventricular lesion load.
CONCLUSIONS—These findings support the hypothesis that cognitive impairment in multiple sclerosis is mostly dependent on involvement of corticocortical connections related to demyelination and/or axonal loss within the white matter immediately underlying the cortex.

 PMID:10896692

  3. Adult xanthogranulomatous disease of the orbit and ocular adnexa: new immunohistochemical findings and clinical review

    PubMed Central

    Sivak‐Callcott, J A; Rootman, J; Rasmussen, S L; Nugent, R A; White, V A; Paridaens, D; Currie, Z; Rose, G; Clark, B; McNab, A A; Buffam, F V; Neigel, J M; Kazim, M

    2006-01-01

    Background/aims Adult xanthogranulomatous disease involving the ocular tissues is rare and poorly understood. Adult onset xanthogranuloma (AOX), adult onset asthma and periocular xanthogranuloma (AAPOX), necrobiotic xanthogranuloma (NBX), and Erdheim‐Chester disease (ECD) are the four syndromes within this disorder, which is diagnosed by characteristic histopathology. Experience with eight cases prompted a multi‐institutional effort to study the histopathology, immunohistochemistry, clinical findings, and systemic associations in this disorder. Methods 22 cases, including histopathological slides, were compiled. Published reports were identified by an English language Medline search (1966–2005) and review of reference citations. Each case in this series and the literature was classified as one of four syndromes and then analysed for age onset, sex, skin xanthoma, orbital location, immune dysfunction, internal organ and bone lesions, treatment, and outcome. The histopathology in each of these cases was reviewed by two pathologists. Immunhistochemical stains (CD3, CD4, CD8, L26) were performed in 14 cases where unstained slides were available. Results 137 cases were compiled. There was no sex or age difference between syndromes. AOX, AAPOX, NBX affect the anterior orbit, ECD tends to be diffuse and intraconal. Skin lesions are found in all the syndromes. Immune dysfunction was noted in all cases of AAPOX and NBX; 11% of NBX and all ECD patients had internal organ disease. Treatment included surgery, corticosteroids, other chemotherapeutic agents, radiotherapy, and combinations of these. No AOX or AAPOX deaths occurred; 66% of ECD patients died. All 22 cases had xanthoma cells; most had Touton giant cells. Lymphocytes were present in all cases and occurred as aggregates (mostly in AAPOX) or diffuse populations mixed with fibroblasts (mostly in ECD). Immunohistochemistry revealed the majority of these to be CD8+. Necrosis was most marked in NBX. Conclusion Adult

  4. Clinical Findings and Results of Surgical Resection in 19 Cases of Spinal Osteoid Osteoma

    PubMed Central

    Etemadifar, Mohammad Reza

    2015-01-01

    Study Design Descriptive cases series. Purpose To evaluate clinical findings and results of conventional surgery in patients with spinal osteoid osteoma (OO). Overview of Literature OO is a rare benign tumor with spinal involvement rate of about 10%-20%. Methods This descriptive study was conducted on 19 patients (11 males and 8 females with an average age of 19.8 years) with documented histopathological and imaging findings of OO referred to a university hospital. Neurologic symptoms and pain were scored before and after the open surgical excision. Data were analyzed by SPSS ver. 16 software using chi-square and significance level of 0.05. Results The most common complaint was back or neck pain (84.2%) and in 68.4% spinal deformity (mostly scoliosis) shown with an average cobb angle of 21° at presentation. The sites of involvement were 35% in the lumbar, 35% in the thoracic, 25% in the cervical, and 5% in the sacrum. Lamina was the most common site (50%) of involvement with predilection for the right side (p=0.001). All patients were treated by conventional surgical excision with a complete recovery of pain and deformity. No recurrence occurred after a mean follow up of 44.5 months, but 4 of 19 cases instrumented because of induced instability. In one case there were two levels of involvement (C7-T1) simultaneously. Interestingly, 10 out of 19 of our cases belonged to a specific race (Bakhtiari). Conclusions Surgical intra-lesional curettage is potentially an effective method without any recurrence, which can lead to spontaneous scoliosis recovery and pain relief. Race may be a potential risk factor for spinal (OO). PMID:26097653

  5. [Celiac disease. Recent findings on its pathogenesis, diagnosis and clinical presentation].

    PubMed

    Volta, U

    1999-01-01

    Coeliac disease is a gluten-sensitive enteropathy which results in a permanent malabsorption of nutrients in that portion of the small intestine (the jejunum) that is damaged. A genetic, inheritable disease, it is directly related to ingestion of certain wheat proteins especially found in rye secalins, barley hordeins and, in a much lower amount, oat avenins. A fundamental role in the pathological response is played by grain prolamins (gliadins). The actual damage to intestinal mucosa is almost certainly mediated by the immune system but its mechanism has not been so far clarified. Coeliac disease incidence rate is ever increasing among children and adolescents and it is rather frequently reported as relapsing in the third and fourth decade. The most distressing problems of malabsorption syndrome are diarrhea, weight loss, meteorism, abdominal pain, vomiting and asthenia; nonetheless, not all patients report symptoms. Both diagnosis and differential diagnosis--intestinal lymphoma, refractory sprue--prove difficult: a diagnosis of gluten intolerance can be made through careful consideration of a series of laboratory findings which are being improved by researchers in order to avoid delays for patients with probable gluten-sensitive enteropathy with non-specific symptoms. Although there may be many clinical signs and laboratory tests indicating probable malabsorption, the likely gold standard of diagnosing coeliac disease remains to be the jejunal biopsy.

  6. Liver transplantation for progressive familial intrahepatic cholestasis: clinical and histopathological findings, outcome and impact on growth.

    PubMed

    Aydogdu, Sema; Cakir, Murat; Arikan, C; Tumgor, Gokhan; Yuksekkaya, Hasan Ali; Yilmaz, Funda; Kilic, Murat

    2007-09-01

    In this study, we analyze the demographic features, clinical and histopathological findings in patients who underwent liver transplantation for progressive familial intrahepatic cholestasis. We also analyze outcome and impact of liver transplantation on growth and bone mineral content. Most of the patients were presented with jaundice mainly beginning within the first six months. At the time of initial admission; eight patients had short stature (height SD score<2), and four patients had weight SD score<2. Liver transplantation were performed at the age of 43.2+/-27 months (range 9 to 96 months), 6.5+/-3.5 months later after the first admission. Infection, surgical complications and osmotic diarrhea associated with severe metabolic acidosis were noted in 41.4%, 16.6% and 33.3%, respectively. One patient developed posttransplant lymphoproliferative disorder. Overall; 1 year graft and patient survival was 69.2% and 75%, respectively. At the end of the 1st year only 2 patients had height SD score<2. Linear regression of height gain against increase in total body BMD measured at the time of transplantation and 1 year after liver transplantation gave a coefficient r=0.588 (p=0.074). No correlation was found between the height gain and age and PELD score at time of transplantation, and no difference was noted between the sexes and donor type. Liver transplantation is effective treatment modality with good outcome and little morbidity, and increases the growth acceleration in patients with PFIC associated with cirrhosis.

  7. Broncholithiasis in a cat: clinical findings, long-term evolution and histopathological features.

    PubMed

    Talavera, Jesus; del Palacio, María Josefa Fernandez; Bayon, Alejandro; Buendia, Antonio J; Sanchez, Joaquin

    2008-02-01

    A 14-year-old neutered male Persian cat was evaluated because of an acute exacerbation of a chronic cough of 2-3 years of duration. Physical examination was normal except for the auscultation of accentuated breath sounds and wheezes cranially on both sides of the chest. Complete blood count, biochemical parameters and urinalysis were normal. Thoracic radiographs showed a generalised nodular pattern with multiple mineral opacities. Oral prednisone and doxycycline were prescribed. Two weeks later, the frequency of the cough was significantly reduced. Terbutaline was recommended for relief of acute exacerbations. Three years later the cat was evaluated again due to a non-related disease that led to the euthanasia of the cat. Concerning its respiratory disease, the cat had experienced nearly asymptomatic periods of 3-6 weeks of duration punctuated by acute exacerbation periods of 7-10 days, during which terbutaline was useful to relieve the cough. Thoracic radiographs showed a mild increase in the size and extent of the pulmonary mineralisation. Histopathologically, mild bronchitis and bronchiectasis were evident, accompanied by calcified bronchial plugs and marked hyperplasia and hypertrophy of the seromucinous glands. Based on clinical and pathoanatomical findings, a final diagnosis of miliary broncholithiasis and bronchiectasis was made. Broncholithiasis should be considered in differential diagnosis of pulmonary mineralisation in cats. When no concomitant diseases are present, this rare disease appears to have a slowly progressive evolution that does not appear to carry a bad prognosis and may be satisfactorily managed with combinations of bronchodilators and corticosteroids.

  8. Methamphetamine use: a comprehensive review of molecular, preclinical and clinical findings.

    PubMed

    Panenka, William J; Procyshyn, Ric M; Lecomte, Tania; MacEwan, G William; Flynn, Sean W; Honer, William G; Barr, Alasdair M

    2013-05-01

    Methamphetamine (MA) is a highly addictive psychostimulant drug that principally affects the monoamine neurotransmitter systems of the brain and results in feelings of alertness, increased energy and euphoria. The drug is particularly popular with young adults, due to its wide availability, relatively low cost, and long duration of psychoactive effects. Extended use of MA is associated with many health problems that are not limited to the central nervous system, and contribute to increased morbidity and mortality in drug users. Numerous studies, using complementary techniques, have provided evidence that chronic MA use is associated with substantial neurotoxicity and cognitive impairment. These pathological effects of the drug, combined with the addictive properties of MA, contribute to a spectrum of psychosocial issues that include medical and legal problems, at-risk behaviors and high societal costs, such as public health consequences, loss of family support and housing instability. Treatment options include pharmacological, psychological or combination therapies. The present review summarizes the key findings in the literature spanning from molecular through to clinical effects.

  9. Clinical features and imaging findings in a case of Capgras syndrome

    PubMed Central

    Luca, Maria; Bordone, Andrea; Luca, Antonina; Patti, Andrea; Sortino, Giuseppe; Calandra, Carmela

    2013-01-01

    Capgras syndrome consists of the delusional belief that a person or persons have been replaced by doubles or impostors. It can occur in the context of both psychiatric and organic illness, and seems to be related to lesions of the bifrontal and right limbic and temporal regions. Indeed, magnetic resonance imaging has revealed brain lesions in patients suffering from Capgras syndrome. This case study reports the findings of a thorough diagnostic evaluation in a woman suffering from Capgras syndrome and presenting with the following clinical peculiarities: obsessive modality of presentation of the delusional ideation, intrusiveness of such ideation (that even disturbed her sleep), as well as a sense of alienation and utter disgust towards the double. These characteristics bring to mind the typical aspects of obsessive-compulsive disorder. Neuroanatomic investigation, through magnetic resonance imaging, performed on this patient showed alteration of the bilateral semioval centers, which are brain regions associated with the emotion of disgust and often show alterations in subjects suffering from obsessive-compulsive disorder. Hence, neuroimaging allows researchers to put forward the hypothesis of a common neuroanatomic basis for Capgras syndrome and obsessive-compulsive disorder, at least for cases in which the delusional ideation is associated with deep feelings of disgust and presents with a certain pervasiveness. PMID:23950650

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

    PubMed

    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.

  11. 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.

  12. Comparison between clinical, ultrasound, CT, MRI, and pathology findings in dogs presented for suspected thyroid carcinoma.

    PubMed

    Taeymans, Olivier; Penninck, Dominique G; Peters, Rachel M

    2013-01-01

    This study compares clinical, ultrasound, computed tomography (CT), magnetic resonance imaging (MRI), and pathology findings in 16 prospectively, and seven retrospectively recruited dogs presented for suspected thyroid carcinoma. Of these, 17 were confirmed thyroid carcinoma, while six were initially misdiagnosed. These included four carotid body tumors, one para-esophageal abscess, and one undifferentiated squamous cell carcinoma. Thyroid carcinomas occurred in older dogs without evidence of sex predilection, and were more often unilateral. All were large, heterogeneous, moderately to strongly vascularized, and most commonly contained areas of dystrophic mineralization and/or fluid accumulations. On MRI, thyroid carcinomas appeared hyperintense compared to surrounding musculature in all imaging sequences used, while on CT they had a lower attenuation value than normal thyroid gland tissue. Histologically confirmed tumor capsule disruption with invasion of the surrounding structures was most commonly detected with MRI. Palpation was not an accurate predictor of locally invasive vs. well-encapsulated masses. Computed tomography had the highest specificity (100%) and MRI had the highest sensitivity (93%) in diagnosing thyroid carcinoma, while ultrasound had considerably lower results. We conclude that ultrasound is adequate for use as a screening tool for dogs with suspected thyroid carcinoma, but recommend either CT or MRI for preoperative diagnosis and staging.

  13. 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.

  14. 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

  15. Are magnetic resonance imaging or radiographic findings correlated with clinical prognosis in spinal cord neuropathy?

    PubMed Central

    Neshat Halati, Fatemeh; Vajhi, Alireza; Molazem, Mohammad; Dehghan, Mohammad Mehdi; Ansari, Fereshteh

    2016-01-01

    Dogs presented to the Small Animal Hospital of Veterinary Medicine, University of Tehran were included in the present study if spinal or intervertebral disc involvement was suspected. Clinical signs were recorded as well as general information of the patient such as age, breed and sex. Sixty dogs were examined radiographically and two standard orthogonal lateral and ventrodorsal projections were taken from the suspected region. Then magnetic resonance imaging (MRI) was performed for all patients. Agreement between MRI and radiographic findings, comparison of sex and breed with diagnostic imaging grades, comparison between diagnostic imaging grades and mean age, recovery rate after surgery or medical treatment, effects of diagnostic imaging severity grades on surgical or medical referrals were evaluated statistically. There were no significant association between age, sex and breed and frequency of the intervertebral disk disease. Intervertebral disc involvements between L2-L3 and T13-L1 were estimated as the most frequent sites of involvements. Sensitivity and specificity of radiography were evaluated 90.0% and 46.0%, respectively, by considering the MRI as a gold standard modality. There was a significant association between severity of disease in the MRI with referral to surgery and medical treatment. The recovery rate after surgery was significantly higher than medical treatment. These results can be used as a foundation for other studies with more focuses on details of injury and larger group of patients. PMID:27872724

  16. The Genetics of Autism: Key Issues, Recent Findings and Clinical Implications

    PubMed Central

    El-Fishawy, Paul; State, Matthew W.

    2010-01-01

    Autism spectrum disorders (ASD’S) are highly heritable. Consequently, gene discovery promises to help illuminate the pathophysiology of these syndromes, yielding important opportunities for the development of novel treatments and a more nuanced understanding of the natural history of these disorders. Although the underlying genetic architecture of ASD’s is not yet known, the literature demonstrates that it is not, writ large, a monogenic disorder with Mendelian inheritance, but rather a group of complex genetic syndromes with risk deriving from genetic variations in multiple genes. The widely accepted “Common Disease-Common Variant” hypothesis predicts that the risk alleles in ASD’s and other complex disorders will be common in the general population. However, recent evidence from gene discovery efforts in a wide range of diseases raises important questions regarding the overall applicability of the theory and the extent of its usefulness in explaining individual genetic liability. In contrast, considerable evidence points to the importance of rare alleles both with regard to their value in providing a foothold into the molecular mechanisms of ASD and their overall contribution to the population-wide risk. This chapter reviews the origins of the common versus rare variant debate, highlights recent findings in the field, and addresses the clinical implications of both common and rare variant discoveries. PMID:20159341

  17. Integrating Chemotherapy into the Management of Oligometastatic Colorectal Cancer: Evidence based Approach Using Clinical Trial Findings

    PubMed Central

    Semrad, Thomas J.; Fahrni, Ana Rodriguez; Gong, I-Yeh; Khatri, Vijay P.

    2015-01-01

    Purpose With the use of case presentations, we present a review of the role of systemic chemotherapy in oligometastatic colorectal cancer and suggest ways to integrate clinical research findings into the interdisciplinary management of this potentially curable subset of patients. Methods This educational review discusses the role of chemotherapy in the management of oligometastatic metastatic colorectal cancer. Results In initially resectable oligometastatic colorectal cancer, the goal of chemotherapy is to eradicate micrometastatic disease. Perioperative 5-fluorouracil and oxaliplatin along with surgical resection can result in 5-year survival rates as high as 57%. With the development of increasingly successful chemotherapy regimens, attention is being paid to the use of chemotherapy to convert patients with initially unresectable metastasis into patients with a chance of surgical cure. The choice of chemotherapy regimen requires consideration of the goals of therapy and assessment of both tumor and patient-specific factors. Discussion Herein we discuss the choice and timing of chemotherapy in patients with initially resectable and borderline resectable metastatic colorectal cancer. Coordinated multidisciplinary care of such patients can optimize survival outcomes and result in the cure of patients with this otherwise lethal disease. PMID:26100816

  18. 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

  19. 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.

  20. 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…

  1. 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

  2. Correlation of 1.5 Tesla Magnetic Resonance Imaging with Clinical and Intraoperative Findings for Lumbar Disc Herniation

    PubMed Central

    Bhave, Arvind; Patil, Sanjay

    2016-01-01

    Study Design A single-center prospective study. Purpose A magnetic resonance imaging (MRI) scan is undeniably the gold standard for the diagnosis of a lumbar disc prolapse. Unfortunately it shares a strong association with incidental findings. In this study, we aimed to determine the extent to which a 1.5 Tesla MRI correlates with the clinical features and intraoperative findings in cases of lumbar disc prolapse. Overview of Literature Few studies have correlated MRI with clinical findings, and none have extended this correlation to intraoperative findings. Methods Over a 2-year period, 50 consecutive patients with lumbar disc herniation requiring discectomy were studied. The MRI findings we observed consisted of the prolapse level, type, position, migration, high-intensity zones (HIZ), lateral recess, and foraminal stenosis. A logistic regression analysis was performed to determine the significance for the various MRI findings. Finally, the MRI observations were confirmed with intraoperative findings and inferences were drawn. Results MRI scan sensitivity and specificity for determining surgically significant levels was 100% and 94.94%, respectively. Straight leg raising test was positive in 74% of patients, with 85%, 43%, and 75% for paracentral, central, and foraminal levels, respectively. A foraminal compromise was the only MRI parameter to share a significant association with neurological deficits. Patients with a HIZ on the MRI had a significant increase in back pain and 63% exhibited identifiable annular tears intraoperatively. The intraoperative anatomical findings correlated extensively with the MRI findings. Conclusions MRI findings strongly correlate with intraoperative features and can serve as a useful tool when planning surgery due to the accurate depiction of the morphometric features. However, the decision for surgery should be made only when detailed clinical findings in conjunction with MRI findings allow for an accurate identification of the

  3. 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…

  4. Moving toward earlier treatment of multiple sclerosis: Findings from a decade of clinical trials and implications for clinical practice.

    PubMed

    Freedman, Mark S; Comi, Giancarlo; De Stefano, Nicola; Barkhof, Frederik; Polman, Chris H; Uitdehaag, Bernard M J; Lehr, Lorenz; Stubinski, Bettina; Kappos, Ludwig

    2014-03-01

    The first clinical presentation of multiple sclerosis (MS) is usually a single episode of typical symptoms and signs and is designated a "first clinical demyelinating event" (FCDE) or a "clinically isolated syndrome". Patients with an FCDE who show 'silent' magnetic resonance imaging lesions are at high risk of further clinical events and therefore of meeting the criteria for the diagnosis of clinically definite MS (CDMS). Here we review five Phase III trials, in which treatment with the following disease-modifying drugs (DMDs) was initiated at this early stage: interferon beta (ETOMS, CHAMPS, BENEFIT, and REFLEX) and glatiramer acetate (PreCISe). Differences in the design of the trials and their patient inclusion criteria limit comparisons. However, the proportion of placebo-treated patients who developed CDMS within 2 years was 38-45% across studies, and this rate was significantly reduced by DMD treatment. Conversion to McDonald MS was reported by only two of the trials: BENEFIT (2001 criteria) and REFLEX (2005 criteria). Around 85% of placebo-treated patients developed McDonald MS by 2 years in each, and again a beneficial effect of DMD treatment was seen. Overall, these studies support early use of DMDs to treat patients with an FCDE who are at high risk of conversion to CDMS.

  5. Classical Novae

    NASA Astrophysics Data System (ADS)

    Bode, Michael F.; Evans, Aneurin

    2012-07-01

    Preface; 1. Novae - a historical perspective Hilmar W. Duerbeck; 2. Properties of novae: an overview Brian Warner; 3. The evolution of nova-producing binary stars Icko Iben, Jr and Masayuki Y. Fujimoto; 4. Thermonuclear processes S. Starrfield, C. Iliadis and W. R. Hix; 5. Nova atmospheres and winds P. H. Hauschildt; 6. Observational mysteries and theoretical challenges Jordi Jose and Steven N. Shore; 7. Radio emission from novae E. R. Seaquist and M. F. Bode; 8. Infrared studies of classical novae Robert D. Gehrz; 9. Optical and ultraviolet evolution Steven N. Shore; 10. X-ray emission from classical novae in outburst Joachim Krautter; 11. Gamma-rays from classical novae Margarita Hernanz; 12. Resolved nova remnants T. J. O'Brien and M. F. Bode; 13. Dust and molecules in nova environments A. Evans and J. M. C. Rawlings; 14. Extragalactic novae Allen Shafter; Index.

  6. 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

    2012-12-07

    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.

  7. Radiological clinical trials: Proposal of a problem-finding questionnaire to improve study success

    PubMed Central

    Valdora, Francesca; Bignotti, Bianca; Calabrese, Massimo; Houssami, Nehmat; Tagliafico, Alberto

    2016-01-01

    AIM To develop a survey to help define the main problems in radiological clinical trials. METHODS Since 2006, we have managed seven different radiological clinical trials recruiting patients in academic and non-academic centres. We developed a preliminary questionnaire using a four-round Delphi approach to identify problems occurring in radiological clinical trials run at our centre. We investigated the recruitment experience, involvement of all multi-disciplinary team members and main obstacles to completing the projects. A final round of Delphi processes elucidated solutions to the identified problems. RESULTS Among 19/20 (95%) respondents, 10 (53%) were young physicians (under 35 years old), and the respondents included non-faculty members, fellows, residents, and undergraduate students. Ninety-four percent (18/19) of respondents showed interest in conducting clinical trials. On a scale of 1 to 10, the problems with higher/worse scores (8-9) were related to technical or communication problems. The most frequent problems across all studies were technical problems related to clinical trial equipment, insufficient willingness to participate, obstacles to understanding the design of electronic-case report form and extra work. CONCLUSION The developed questionnaire identified the main recurring problems in radiological clinical trials as perceived by end-users and helped define possible solutions that are mostly related to having dedicated clinical trial research staff. PMID:28074173

  8. Basilar impression complicating osteogenesis imperfecta type IV: the clinical and neuroradiological findings in four cases

    PubMed Central

    Hayes, M; Parker, G; Ell, J; Sillence, D

    1999-01-01

    OBJECTIVES—To describe the clinical and neuroradiological features of basilar impression in patients with osteogenesis imperfecta type IV.
METHODS—Four patients with basilar impression were ascertained in a population study of osteogenesis imperfecta. All four had detailed clinical and neuroradiological examination with both CT and MRI of the craniocervical junction andposterior fossa structures.
RESULTS—All four showed significant compression of the posterior fossa structures and surgical decompression was performed with relief of symptoms.
CONCLUSION—Symptoms of cough headache and trigeminal neuralgia occurring in patients with osteogenesis imperfecta are indications for detailed clinical and neuroradiological investigation to document basilar impression.

 PMID:10084535

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

    PubMed

    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.

  11. 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

  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 Evidence in Guardianship of Older Adults Is Inadequate: Findings From a Tri-State Study

    PubMed Central

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

    2014-01-01

    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 written clinical evidence for guardianship and the hearing outcome were recorded. Results The quality of the written clinical evidence for guardianship was best in Colorado, the state with the most progressive statutory reform, earning a grade of B in our ratings, and worst in Massachusetts, a state with minimal reform, earning a grade of D – with nearly two thirds of the written evidence illegible. Information on specific functional deficits was frequently missing and conclusory statements were common. Information about the individual’s key values and preferences was almost never provided, and individuals were rarely present at the hearing. Limited orders were used for 34% of the cases in Colorado, associated with more complete clinical testimony, but such orders were used in only 1 case in either Massachusetts or Pennsylvania. Implications In this study, states with progressive statutes that promote functional assessment are associated with increased quality of clinical testimony and use of limited orders. A continuing dialogue between clinical and legal professionals is needed to advance reform in guardianship, and thereby provide for the needs and protect the rights of adults who face guardianship proceedings. PMID:17989402

  14. 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.

  15. "There has never been anything like a classical child analysis". Clinical discussions with Anna Freud, 1970-1971.

    PubMed

    Penman, Ava Bry

    2013-01-01

    This paper reports on a series of clinical discussions with Anna Freud, faculty and trainees at the Hampstead Clinic in 1970-1971. Anna Freud's comments are published here for the first time. The meetings concerned the nature and use of relationships in work with children who do not have a well-defined neurosis. If parochial borders are erased among the domains of upbringing, education, and psychoanalysis, potential therapeutic fertility and strength can increase. The clinical material in the paper makes it possible to explore the old and new aspects of the treatment relationship, such as the transferential, the externalization of the self-representational, the developmental, and so forth. This is a personal account of a formative experience during training.

  16. [Verrucous pastern dermatitis syndrome in heavy draught horses. Part II: Clinical findings].

    PubMed

    Geburek, F; Deegen, E; Hewicker-Trautwein, M; Ohnesorge, B

    2005-07-01

    In the present field study the skin of the feet of 37 heavy draught horses of different breeds showing verrucous pastern dermatitis was examined clinically. Included were the degree of severity of the disease and the prevalence of anatomically normal structures associated with the skin: fetlock tufts of hair ("feathering"), ergots, chestnuts, bulges in the pastern region, cannon circumference. Each horse was examined for Chorioptes sp. skin mites. Information was also collected on the development of the skin alterations and housing conditions and feeding. These individual data were correlated with the clinical degree of severity of verrucous pastern dermatitis, which was evaluated using a numerical code (scoring system). In addition, punch biopsies were taken from the diseased skin of the feet and from healthy skin of the neck for comparative patho-histological examination (see Part III). Verrucous pastern dermatitis is a chronic disease which can be divided into four groups: scaling (group I), hyperkeratotic and hyperplastic plaque-like lesions (group II), tuberous skin masses (group III), and verrucous skin lesions with rugged surfaces (group IV). No correlation was found between the clinical degree of severity of the skin lesions and sex, breed, amount of work, use of stallions for breeding, grooming condition of the hair, white markings in the foot region, or Chorioptes sp. infestation. In regard to feeding it was found that the amount of maize and oats fed had some influence on the clinical degree of severity. Statistical analysis revealed a significant correlation between the clinical degree of severity and the age, the grooming condition of the hooves, and the mean cannon circumference. The prevalence of fetlock tufts of hair, chestnuts, ergots, and anatomically normal bulges in the pastern region also increased significantly with the clinical degree of severity. Furthermore the study revealed that the clinical degree of severity depended on the hygienic

  17. 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

  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.

  19. [Clinical and molecular findings of pachyonychia congenita type 2 (PC-2)].

    PubMed

    Cammarata-Scalisi, Francisco; Natsuga, Ken; Toyonaga, Ellen; Nishie, Wataru; Shimizu, Hiroshi; Stock, Frances; Milano, Melisse; Petrosino, Pierina; Arenas de Sotolongo, Asmiria; Medina, Yoel

    2015-01-01

    Pachyonychia congenita is a group of autosomal dominant inheritance pattern disorders characterized by hypertrophic nail dystrophy There are two main clinical subtypes: type 1 and 2. Pachyonychia congenita type 2 is readily differentiated from type 1 by multiple steatocysts and/or presence of natal teeth and can be confirmed by mutations of KRT6B and KRT17. We report the case of a 33-year-o/d female patient with the missense mutation in KRT17 gene (c.280C> T, p.Arg94Cys) and discuss the several clinical features found with this mutation in the literature.

  20. A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing

    PubMed Central

    Berg, Jonathan S.; Foreman, Ann Katherine M.; O'Daniel, Julianne M.; Booker, Jessica K.; Boshe, Lacey; Carey, Timothy; Crooks, Kristy R.; Jensen, Brian C.; Juengst, Eric T.; Lee, Kristy; Nelson, Daniel K.; Powell, Bradford C.; Powell, Cynthia M.; Roche, Myra I.; Skrzynia, Cecile; Strande, Natasha T.; Weck, Karen E.; Wilhelmsen, Kirk C.; Evans, James P.

    2016-01-01

    Purpose: As genome-scale sequencing is increasingly applied in clinical scenarios, a wide variety of genomic findings will be discovered as secondary or incidental findings, and there is debate about how they should be handled. The clinical actionability of such findings varies, necessitating standardized frameworks for a priori decision making about their analysis. Genet Med 18 5, 467–475. Methods: We established a semiquantitative metric to assess five elements of actionability: severity and likelihood of the disease outcome, efficacy and burden of intervention, and knowledge base, with a total score from 0 to 15. Genet Med 18 5, 467–475. Results: The semiquantitative metric was applied to a list of putative actionable conditions, the list of genes recommended by the American College of Medical Genetics and Genomics (ACMG) for return when deleterious variants are discovered as secondary/incidental findings, and a random sample of 1,000 genes. Scores from the list of putative actionable conditions (median = 12) and the ACMG list (median = 11) were both statistically different than the randomly selected genes (median = 7) (P < 0.0001, two-tailed Mann-Whitney test). Genet Med 18 5, 467–475. Conclusion: Gene–disease pairs having a score of 11 or higher represent the top quintile of actionability. The semiquantitative metric effectively assesses clinical actionability, promotes transparency, and may facilitate assessments of clinical actionability by various groups and in diverse contexts. Genet Med 18 5, 467–475. PMID:26270767

  1. 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.

  2. 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…

  3. 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

  4. 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

  5. Diagnostic subgroups of craniomandibular disorders. Part I: Self-report data and clinical findings.

    PubMed

    Lobbezoo-Scholte, A M; De Leeuw, J R; Steenks, M H; Bosman, F; Buchner, R; Olthoff, L W

    1995-01-01

    An overview is given of the most commonly investigated signs and symptoms associated with craniomandibular disorders as detected in a population of patients with craniomandibular disorders and in four defined diagnostic subgroups. The information was collected with a questionnaire and during an extensive clinical examination. Comparison of self-report and clinical data indicated that these two methods reveal different aspects of the patient's complaints and should be interpreted in their own way. The results showed that no statistically significant differences could be found between the four diagnostic subgroups with respect to occlusal factors, trauma, and clinically assessed parafunctional habits. The groups differed considerably with respect to general characteristics, pain variables, signs of craniomandibular disorders, self-reported para-functional habits, psychosocial factors, and general health factors. However, despite the reduction in clinical characteristics of the four subgroups, there was little reduction in the diversity of factors associated with craniomandibular disorders. This implicates that almost all factors associated with craniomandibular disorders may influence the initiation and perpetuation of the different disorders in the individual patient, and therefore, remain of interest in future research.

  6. 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

  7. 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

  8. 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.

  9. Reliability of Assessing Hand Osteoarthritis on Digital Photographs and Associations With Radiographic and Clinical Findings

    PubMed Central

    Marshall, Michelle; Jonsson, Helgi; Helgadottir, Gudrun P; Nicholls, Elaine; van der Windt, Danielle; Myers, Helen; Dziedzic, Krysia

    2014-01-01

    Objective To investigate the reliability and construct validity of an atlas for grading hand osteoarthritis (OA) on photographs in a separate younger community-dwelling population than the development cohort. Methods Participants were community-dwelling adults (ages ≥50 years) in North Staffordshire, UK with hand pain or hand problems in the last year who attended a research clinic. High-quality photographs were taken in a standardized position. A photographic atlas was used to score hand joints (second and third distal interphalangeal [DIP], second and third proximal interphalangeal [PIP], and first carpometacarpal [CMC] joints) and joint groups (DIP, PIP, and CMC joints) for OA on a 0–3 scale. Hand radiographs were graded for OA using the Kellgren/Lawrence (K/L) grading system. Clinical features (nodes, bony enlargement, and deformity) were determined by physical examination. Associations of photographic hand OA grades with radiographic OA and clinical features were determined to assess construct validity. Results In total, 558 participants (mean age 64 years, 62% women) were included in the analyses. Reliability for scoring OA on the photographs was good (mean intrarater intraclass correlation coefficient [ICC] 0.77 and mean interrater ICC 0.71). At the joint level, photographic hand OA grade was positively associated with radiographic OA grade (Spearman's ρ = 0.19–0.57, P < 0.001) and the number of clinical features (Spearman's ρ = 0.36–0.59, P < 0.001). At the person level, individuals with higher global photographic OA scores had higher summed K/L scores and higher percentages meeting the American College of Rheumatology clinical hand OA criteria. Conclusion This photographic scoring system was reliable and a good indicator of hand OA in a separate younger community-dwelling population than the development cohort. This method of data collection offers researchers a feasible alternative to physical examination and radiography. PMID:26259552

  10. A clinical approach to determine false positive findings of clinical endometritis by vaginoscopy by the use of uterine bacteriology and cytology in dairy cows.

    PubMed

    Westermann, S; Drillich, M; Kaufmann, T B; Madoz, L V; Heuwieser, W

    2010-10-15

    Clinical endometritis in dairy cows is defined as mucopurulent or purulent vulvar discharge 21 days or more after parturition. The diagnosis of clinical endometritis is commonly based on vaginal examination. Techniques to reduce the proportions of false negative findings have been described. This paper discusses a clinical approach to determine the proportion of false positive findings that might occur by vaginal inspection. The consequences of false positive findings in dairy practice are unnecessary or inadequate treatments. In research, incorrect diagnoses have an impact on the interpretation of studies on the diagnosis and treatment of clinical endometritis. The objective of the present study was to compare intrauterine bacteriology and endometrial cytology in cows diagnosed with clinical endometritis with findings obtained by vaginoscopy. Clinical endometritis was defined as mucopurulent or purulent vulvar discharge. On two commercial dairy farms, cows were examined 21 to 28 d postpartum. Uterine samples (n = 230) were collected from cows with clinical endometritis with the cytobrush technique to determine the proportion of polymorphonuclear neutrophils (PMN) and to culture smears for aerobic bacteria. Two threshold values for the proportion of PMN (5 and 18%) were chosen as possible indicators for an inflamed endometrium. Common uterine pathogens A. pyogenes and E. coli were found in 33.5 and 10.4% of the samples, respectively. With increasing vaginal discharge score, proportion of samples positive for A. pyogenes increased significantly. The proportion of cows exceeding the thresholds for PMN increased with vaginal discharge score and the presence of A. pyogenes. Considering only the presence of aerobic uterine pathogens and a proportion of PMN above the threshold values of 5 and 18% as indicative for endometritis, a proportion of 17.3 and 28.5%, respectively, of diagnoses by vaginoscopy were false positive.

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

    PubMed Central

    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

    2015-01-01

    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. PMID:26036857

  12. Clinically Significant Incidental Findings among HIV-Infected Men during Computed Tomography for Determination of Coronary Artery Calcium

    PubMed Central

    Crum-Cianflone, Nancy; Stepenosky, James; Medina, Sheila; Wessman, Dylan; Krause, David; Boswell, Gilbert

    2010-01-01

    HIV-infected persons are at higher risk for cardiovascular disease and may undergo computed tomographic (CT) scans for early detection. Incidental findings on cardiac CT imaging are important components of the benefits and costs of testing. We determined the prevalence and factors associated with incidental findings on CT scans performed for screening for coronary artery calcium (CAC) among HIV-infected men. A clinically significant finding was defined as requiring further work-up or medical referral. A total of 215 HIV-infected men were evaluated with a median age of 43 years, 17% were current tobacco users, median CD4 count was 580 cells/mm3, and 83% were receiving antiretroviral medications. Thirty-four percent had a positive CAC score of >0. An incidental finding was noted among 93 (43%) of participants, with 36 (17%) having at least 1 clinically significant finding. A total of 139 findings were noted, most commonly pulmonary nodules, followed by granulomas, scarring, and hilar adenopathy. The majority of incidental findings were stable on follow-up, and no malignancies were detected. Factors associated with having an incidental finding in the multivariate model included increasing age (OR 1.6 per 10 years, p<0.01), positive CAC score (OR 2.3, p<0.01), and current tobacco use (OR 2.5, p=0.02). In conclusion, incidental findings are common among HIV-infected persons undergoing screening CT imaging for CAC determination. Incidental findings were more common among older patients and those with detectable CAC. PMID:21195379

  13. A socio-psychological investigation into limitations and incentives concerning reporting a clinically suspect situation aimed at improving early detection of classical swine fever outbreaks.

    PubMed

    Elbers, A R W; Gorgievski-Duijvesteijn, M J; van der Velden, P G; Loeffen, W L A; Zarafshani, K

    2010-04-21

    The aim of this study was to identify limitations and incentives in reporting clinically suspect situations, possibly caused by classical swine fever (CSF), to veterinary authorities with the ultimate aim to facilitate early detection of CSF outbreaks. Focus group sessions were held with policy makers from the veterinary authorities, and representatives of veterinary practitioners and pig farmer unions. Personal interviews with a small group of pig farmers and practitioners were held to check limitations raised and solutions proposed during the focus group sessions. An electronic questionnaire was mailed to pig farmers and practitioners to investigate perceptions and attitudes with respect to clinically suspect situations possibly caused by CSF. After triangulating the responses of veterinary authorities, veterinary practitioners and farmers, six themes emerged across all groups: (1) lack of knowledge on the early signs of CSF; (2) guilt, shame and prejudice; (3) negative opinion on control measures; (4) dissatisfaction with post-reporting procedures; (5) lack of trust in government bodies; (6) uncertainty and lack of transparency of reporting procedures. The following solutions to facilitate early detection of CSF were put forward: (a) development of a clinical decision-support system for vets and farmers, in order to get faster diagnosis and detection of CSF; (b) possibility to submit blood samples directly to the reference laboratory to exclude CSF in a clinical situation with non-specific clinical signs, without isolation of the farm and free of charge for the individual farmer; (c) decrease social and economic consequences of reporting CSF, for example by improving the public opinion on first reports; (d) better schooling of veterinary officers to deal with emotions and insecurity of farmers in the process after reporting; (e) better communication of rules and regulations, where to report, what will happen next; (f) up-to-date website with information and

  14. 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

  15. Intervention research: Appraising study designs, interpreting findings and creating research in clinical practice.

    PubMed

    Ebbels, Susan H

    2017-01-13

    Speech-language pathologists (SLPs) are increasingly required to read, interpret and create evidence regarding the effectiveness of interventions. This requires a good understanding of the strengths and weaknesses of different intervention study designs. This paper aims to take readers through a range of designs commonly used in speech-language pathology, working from those with the least to most experimental control, with a particular focus on how the more robust designs avoid some of the limitations of weaker designs. It then discusses the factors other than research design which need to be considered when deciding whether or not to implement an intervention in clinical practice. The final section offers some tips and advice on carrying out research in clinical practice, with the hope that more SLPs will become actively involved in creating intervention research.

  16. [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.

  17. Preliminary findings from a clinical demonstration project for veterans returning from Iraq or Afghanistan.

    PubMed

    Beckham, Jean C; Becker, Mary E; Hamlett-Berry, Kim W; Drury, Pamela D; Kang, Han K; Wiley, Matthew T; Calhoun, Patrick S; Moore, Scott D; Bright, Mary Anne; McFall, Miles E

    2008-05-01

    Military veterans are at high risk for nicotine dependence. This clinical demonstration project used invitational letters, referral to the National Cancer Institute's Smoking Quitline, and local Veteran Affairs prescriptions for tobacco cessation to evaluate whether this low-cost method would potentially reduce smoking in separated veterans who served in Afghanistan and Iraq. Three cohorts (500 each) of recently separated veterans from Afghanistan and Iraq were contacted by survey letters. Interested veterans received follow-up telephone calls using standardized scripts. They were referred to the National Cancer Institute's Smoking Quitline (1-877-44U-QUIT) and offered local Veteran Affairs pharmacologic treatment for smoking cessation. Forty-three percent of respondents who were smokers were interested in the clinical program; of these, 77% participated. At 2 months follow-up, 38% of participants self-reported maintained smoking abstinence. Results suggested that the intervention was feasible and assisted the small number of veterans who participated.

  18. 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.

  19. 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

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

    PubMed

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

    2014-10-01

    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.

  1. Clinical and necropsy findings associated with increased mortality among American alligators of Lake Griffin, Florida.

    PubMed

    Schoeb, Trenton R; Heaton-Jones, Terrell G; Clemmons, Roger M; Carbonneau, Dwayne A; Woodward, Allan R; Shelton, Diane; Poppenga, Robert H

    2002-04-01

    From December, 1997, through November, 2000, 306 deaths were documented among adult and subadult American alligators (Alligator mississippiensis) of Lake Griffin, Florida (USA). Some live alligators were lethargic and unresponsive to approach. To determine the cause, we examined ten alligators captured from Lake Griffin between December 1997 and June 1999. Initially, four alligators, three of which were clinically unresponsive, were sacrificed for routine diagnostic necropsy. The other six Lake Griffin alligators, and five control alligators captured from Lake Woodruff National Wildlife Refuge, Florida, where mortality was negligible, were studied extensively by clinical neurologic examination, electromyography, hematology, serum chemical analyses, and blood culture, then sacrificed and necropsied. Samples of brain, spinal cord, peripheral nerves, skeletal muscle, and major internal organs were examined by light microscopy for abnormalities. Samples of nervous tissue also were examined by electron microscopy, and samples of various tissues were collected for toxicologic analyses. Clinical signs included swimming in circles, inability to submerge, lethargy, weakness, unresponsiveness, slow reflexes, dragging the dorsal surfaces of the hind feet, head tilt, and anisocoria. Lake Griffin alligators had significantly lower distal sciatic nerve conduction velocities than Lake Woodruff alligators, and the most severely affected alligators had the lowest velocities; but morphologic abnormalities in peripheral nerves were not evident in most cases. Three severely affected alligators had acute focal necrosis of the torus semicircularis in the midbrain, two had skeletal myofiber atrophy, another had diffuse nonsuppurative encephalomyelitis, and one mildly affected alligator had skeletal myodegeneration. The cause or causes have not yet been identified.

  2. Peripheral neuropathy in chronic liver disease: clinical, electrodiagnostic, and nerve biopsy findings

    PubMed Central

    Knill-Jones, R. P.; Goodwill, C. J.; Dayan, A. D.; Williams, Roger

    1972-01-01

    In a prospective study of 70 unselected patients with chronic liver disease, clinical signs of a peripheral neuropathy were observed in 13 patients. Abnormal nerve conduction was demonstrated in nine of these and in one further patient who had no abnormal neurological signs. The occurrence of a neuropathy (in patients with cryptogenic cirrhosis, haemochromatosis, active chronic hepatitis as well as in alcoholic cirrhosis) could not be related to liver function, although it was associated with higher IgA and IgM values. Clinical diabetes was present in six of the 14 patients with neuropathy but there was no relation in the non-diabetic patients between neuropathy and minor impairment of carbohydrate tolerance. Those with neuropathy had a significantly higher incidence of oesophageal varices and there was also a relationship to a history of previous encephalopathy. Sural nerve biopsy was carried out on 14 patients, eight of whom had clinical or electrodiagnostic evidence of neuropathy. Single nerve fibres were examined by teasing and in all nerves histological evidence was found of an indolent process which had damaged whole Schwann cells and which resulted in demyelination and remyelination. Diabetic angiopathy was not seen and axonal degeneration, which was never severe, was found in all disease groups equally. Images PMID:4337271

  3. [Biochemical and clinical findings in congenital abnormalities of galactose metabolism (author's transl)].

    PubMed

    Sitzmann, F C; Kaloud, H; Istvan, L

    1975-01-10

    Current knowledge of the biochemical basis of abnormalities in galactose metabolism are discussed. The clinical picture, analysis of frequency and therapy are described. Although the galactokinase defect hat been described only rarely, abundant literature has been published on the Gal-1-PUT defect. Five variations of this defect are known (Duarte, Los Angeles, Rennes, Indiana and Negro variants), but these simulate only partially the clinical picture of galactosaemia. The UDP-Gal-4-epimerase defect has only once been described. Defects in galactose metabolism which show autosomal recessive inheritance are demonstrated in milk-fed infants by means of the Guthrie test. If the clinical picture arouses the suspicion of a defect in Gal-1-PUT or galactokinase, then a milk-free diet should be given until the diagnosis has been verified by enzyme analysis. Children who have been fed on a lactose-free diet show normal physical and mental development. If possible the entire family of the proband should undergo enzyme analysis in order to detect and to counsel all the heterozygotes in the family. Genetic counselling is considered to be absolutely indicated in this case. Termination of pregnancy is not indicated under any circumstances.

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

    PubMed

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

    2015-06-09

    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.

  5. 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…

  6. 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…

  7. [Clinical course and serial brain MRI findings in a patient with Lissauer form of general paresis].

    PubMed

    Ishihara, Tomohiko; Ishihara, Ayako; Ozawa, Tetutaro; Sanpei, Kazuhiro; Shimohata, Takayoshi; Nishizawa, Masatoyo

    2015-01-01

    A 60-year-old man presented with progressive dementia and generalized convulsions. An initial MRI revealed a widespread high-intensity area with a mass effect in the right frontal and temporal lobes on T2-weighted images. Findings on digital subtraction angiography were normal. Serum and CSF tests showed high titers of antibodies to Treponema pallidum, which helped to distinguish neurosyphilis from glioma. He was initially treated with penicillin injection; however, it caused liver dysfunction and penicillin was switched to erythromycin. Even after antibiotic therapy for 2 months, his dementia did not improve. He underwent brain MRI four times during the treatment course, and they showed steady progression of brain atrophy in the right hemisphere. Taking these findings together, we diagnosed Lissauer form of general paresis. To the best of our knowledge, this is the first case of Lissauer form of paretic neurosyphilis, in which the progression of brain atrophy was clearly demonstrated on MRI.

  8. Clinical findings of intracranial vertebral artery disease using magnetic resonance angiography.

    PubMed

    Liu, Lu-Han; Chen, Clayton Chi-Chang; Chang, Ming-Hong

    2004-09-01

    The vertebral artery lesion has a variety of clinical characteristics. We sought to clarify the clinical patterns and the location of the intracranial vertebral artery (ICVA) diseases according to analyses of images obtained using magnetic resonance angiography (MRA). We studied vascular lesions, risk factors, symptoms, signs, and outcomes in 35 patients with ICVA disease (3 had bilateral occlusion; 9, unilateral occlusion; 6, bilateral stenosis; and 17, unilateral stenosis). The most common site of unilateral and bilateral lesions was the distal ICVA after the origin of posterior inferior cerebellar artery (PICA). We found accompanying basilar artery disease in 28.6% of patients with unilateral and bilateral ICVA disease. The majority of the ICVA lesions were associated with internal carotid arteries disease (48.8%). The common vascular risk factors were hypertension (71%), diabetes mellitus (34%), hyperlipidemia (31%), smoking (29%), and coronary artery disease (23%). Eighteen patients (51.4%) had transient ischemic attacks (TIAs) only, 10 patients (28.6%) had TIAs before stroke, and 5 patients (14.3%) had strokes without TIAs. Most patients (80%) with TIAs, with or without stroke, had multiple episodes. Vertigo or dizziness, ataxia, limbs weakness and abnormal gait were the common symptoms and signs. At 6 months follow-up, 66.7% patients had no symptoms or only slight symptoms that caused no disability. Our data showed (1) the usual location of ICVA disease (occlusion or severe stenosis) was distal to PICA, especially near the vertebrobasilar junction; (2) the risk factors were hypertension, diabetes mellitus, hyperlipidemia, smoking, and coronary artery disease; (3) patients with ICVA disease had a high frequency of accompanying internal carotid, middle cerebral, or basilar artery disease; (4) vertigo or dizziness, and ataxia were the common symptoms and signs; (5) TIA was the most common clinical pattern; (6) the outcome was favorable, except in cases with

  9. 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

  10. Parent-Adolescent Cross-Informant Agreement in Clinically Referred Samples: Findings From Seven Societies.

    PubMed

    Rescorla, Leslie A; Ewing, Grace; Ivanova, Masha Y; Aebi, Marcel; Bilenberg, Niels; Dieleman, Gwen C; Döpfner, Manfred; Kajokiene, Ilona; Leung, Patrick W L; Plück, Julia; Steinhausen, Hans-Christoph; Winkler Metzke, Christa; Zukauskiene, Rita; Verhulst, Frank C

    2017-01-01

    To conduct international comparisons of parent-adolescent cross-informant agreement in clinical samples, we analyzed ratings on the Child Behavior Checklist (CBCL) and Youth Self-Report (YSR) for 6,762 clinically referred adolescents ages 11-18 from 7 societies (M = 14.5 years, SD = 2.0 years; 51% boys). Using CBCL and YSR data, we asked the following questions: (a) Do parents report more problems for their adolescent children than the adolescents report about themselves? (b) How do cross-informant correlations (rs) for scale scores differ by problem type and by society? (c) How well do parents and adolescents, on average, agree regarding which problems they rate as low, medium, or high? (d) How does within-dyad item agreement vary within and between societies? (e) How do societies vary in dichotomous cross-informant agreement with respect to the deviance status of the adolescents? CBCL and YSR scores were quite similar, with small and inconsistent informant effects across societies. Cross-informant rs averaged .47 across scales and societies. On average, parents and adolescents agreed well regarding which problem items received low, medium, or high ratings (M r = .87). Mean within-dyad item agreement was moderate across all societies, but dyadic agreement varied widely within every society. In most societies, adolescent noncorroboration of parent-reported deviance was more common than parental noncorroboration of adolescent-reported deviance. Overall, somewhat better parent-adolescent agreement and more consistency in agreement patterns across diverse societies were found in these seven clinical samples than in population samples studied using the same methods.

  11. Congenital nasal pyriform aperture stenosis: clinical and radiologic findings and treatment.

    PubMed

    Sanal, Bekir; Demirhan, Nevzat; Koplay, Mustafa; Sadikoğlu, Mustafa Yurtkuran; Gürpinar, Arif

    2009-11-01

    Congenital nasal pyriform aperture stenosis (CNPAS) is an unusual cause of airway obstruction in the newborn and infants. Immediate recognition and therapy are essential for this potentially life-threatening circumstance. CNPAS should be considered in the differential diagnosis of any infant with episodic apnea, cyclical cyanosis, and feeding difficulty. Computerized tomographic (CT) measurements and imaging features enable accurate diagnosis of this abnormality. In this report we demonstrated CT examination findings of CNPAS in a neonate.

  12. 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

  13. Dermoscopic findings in different clinical variants of lichen planus. Is dermoscopy useful?

    PubMed

    Friedman, Paula; Sabban, Emilia Cohen; Marcucci, Carolina; Peralta, Rosario; Cabo, Horacio

    2015-10-01

    Lichen planus (LP) is a papulosquamous dermatosis that involves the skin, scalp, nails and mucous membranes. Although its pathogenesis is still unknown, there is evidence that an imbalance of immunologic cellular reactivity plays an important role. Histopathologic examination reveals characteristic interface dermatitis. Dermoscopy is a non-invasive tool, useful in the assessment of inflammatory dermatoses, such as lichen planus. In this paper we describe the dermoscopic findings of different variants of LP (ungual, cutaneous, planopilaris, pigmentosus).

  14. Dermoscopic findings in different clinical variants of lichen planus. Is dermoscopy useful?

    PubMed Central

    Friedman, Paula; Sabban, Emilia Cohen; Marcucci, Carolina; Peralta, Rosario; Cabo, Horacio

    2015-01-01

    Lichen planus (LP) is a papulosquamous dermatosis that involves the skin, scalp, nails and mucous membranes. Although its pathogenesis is still unknown, there is evidence that an imbalance of immunologic cellular reactivity plays an important role. Histopathologic examination reveals characteristic interface dermatitis. Dermoscopy is a non-invasive tool, useful in the assessment of inflammatory dermatoses, such as lichen planus. In this paper we describe the dermoscopic findings of different variants of LP (ungual, cutaneous, planopilaris, pigmentosus). PMID:26693092

  15. Alpha-mannosidosis - a review of genetic, clinical findings and options of treatment.

    PubMed

    Borgwardt, Line; Lund, Allan Meldgaard; Dali, Christine I

    2014-09-01

    Alpha-mannosidosis (OMIM 248500) is a rare, autosomal recessive, multisystemic, progressive lysosomal storage disorder caused by a deficiency of alpha-mannosidase. It has been described in humans, cattle, domestic cats, mice and guinea pigs. In humans, alpha-mannosidosis results in progressive facial- and skeletal abnormalities, motor impairment, hearing impairment, intellectual disability, recurrent infections and immune deficiency. This review provides detailed information regarding the variability of manifestations and a description of current treatment and treatment under investigation for alpha-mannosidosis. The pathology, genetics and clinical pictures, including impairments in the activity of daily living are discussed.

  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. [Chromium exposure biological indices and clinical findings in chromium plating industry (author's transl)].

    PubMed

    Franchini, I; Cavatorta, A; Mutti, A; Marcato, M; Bottazzi, D; Cigala, F

    1977-09-01

    According to the investigations carried out on workers of two chromium plating plants, the authors believe that chromium urinary excretion allows to determine the degree of its acute absorption. Moreover, the renal clearance of diffusible chromium allows the evaluation of chromium body burden and is related to the duration as well as to the severity of exposure. This interpretation is supported by the relation between the exposure biological indexes and the clinical and instrumental investigations which make possible the evaluation of lesions caused by chromium exposure, mostly concerning the respiratory system.

  18. Clinical and intraoral findings of a patient with tricho-rhino-phalangeal syndrome type I.

    PubMed

    Karacay, S; Saygun, I; Tunca, Y; Imirzalioglu, N; Guvenc, G

    2007-03-01

    Tricho-rhino-phalangeal syndrome (TRPS) is a rare and an autosomal dominant disorder having the following characteristics: slowly growing sparse hair, medially thick and laterally thin eyebrows, bulbous tip of the nose, long flat philtrum and thin upper lip with vermilion border, protruding ears, cone-shaped epiphyses and swelling. Our report intends to introduce TRPS to the dental literature and to present oral, clinical and radiological data of a patient with TRPS. A rare association of supernumerary teeth was also diagnosed and one of them was extracted as it impeded on the eruption path of left premolar tooth.

  19. Low Prevalence of Clinically Significant Endoscopic Findings in Outpatients with Dyspepsia

    PubMed Central

    Abdeljawad, Khaled; Wehbeh, Antonios

    2017-01-01

    Background. The value of endoscopy in dyspeptic patients is questionable. Aims. To examine the prevalence of significant endoscopic findings (SEFs) and the utility of alarm features and age in predicting SEFs in outpatients with dyspepsia. Methods. A retrospective analysis of outpatient adults who had endoscopy for dyspepsia. Demographic variables, alarm features, and endoscopic findings were recorded. We defined SEFs as peptic ulcer disease, erosive esophagitis, malignancy, stricture, or findings requiring specific therapy. Results. Of 650 patients included in the analysis, 51% had a normal endoscopy. The most common endoscopic abnormality was nonerosive gastritis (29.7%) followed by nonerosive duodenitis (7.2%) and LA-class A esophagitis (5.4%). Only 10.2% had a SEF. Five patients (0.8%) had malignancy. SEFs were more likely present in patients with alarm features (12.6% versus 5.4%, p = 0.004). Age ≥ 55 and presence of any alarm feature were associated with SEFs (aOR 1.8 and 2.3, resp.). Conclusion. Dyspeptic patients have low prevalence of SEF. The presence of any alarm feature and age ≥ 55 are associated with higher risk of SEF. Endoscopy in young patients with no alarm features has a low yield; these patients can be considered for nonendoscopic approach for diagnosis and management. PMID:28210269

  20. Clinical characteristics and computed tomography findings of pulmonary toxoplasmosis after hematopoietic stem cell transplantation.

    PubMed

    Sumi, Masahiko; Norose, Kazumi; Hikosaka, Kenji; Kaiume, Hiroko; Takeda, Wataru; Kirihara, Takehiko; Kurihara, Taro; Sato, Keijiro; Ueki, Toshimitsu; Hiroshima, Yuki; Kuraishi, Hiroshi; Watanabe, Masahide; Kobayashi, Hikaru

    2016-12-01

    The prognosis of pulmonary toxoplasmosis, including disseminated toxoplasmosis involving the lungs, following hematopoietic stem cell transplantation (HSCT) is extremely poor due to the difficulties associated with early diagnosis and the rapidly progressive deterioration of multiorgan function. In our institution, we identified nine cases of toxoplasmosis, representing incidences of 2.2 and 19.6 % among all HSCT recipients and seropositive HSCT recipients, respectively. Of the patients with toxoplasmosis, six had pulmonary toxoplasmosis. Chest computed tomography (CT) findings revealed centrilobular, patchy ground-glass opacities (n = 3), diffuse ground-glass opacities (n = 2), ground-glass opacities with septal thickening (n = 1), and marked pleural effusion (n = 1). All cases died, except for one with suspected pulmonary toxoplasmosis who was diagnosed by a polymerase chain reaction assay 2 days after the onset of symptoms. In pulmonary toxoplasmosis, CT findings are non-specific and may mimic pulmonary congestion, atypical pneumonia, viral pneumonitis, and bronchopneumonia. Early diagnosis and treatment is crucial for overcoming this serious infectious complication. Pulmonary toxoplasmosis should be considered during differential diagnosis in a recipient with otherwise unexplained signs of infection and CT findings with ground-glass opacities, regardless of the distribution.

  1. 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.

  2. 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

  3. 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.

  4. 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.

  5. Experimental gingivitis and frequency of tooth brushing in the beagle dog model. Clinical findings.

    PubMed

    Tromp, J A; van Rijn, L J; Jansen, J

    1986-03-01

    The aim of this experiment was to study clinical parameters when 3 different frequencies of tooth brushing were applied to sites of experimental gingivitis in beagle dogs. 12 beagle dogs, at the start of the experiment 2 years of age, were used. After a thorough cleaning, the maxillary left and right first, second and third premolars were brushed daily for a period of 8 weeks. Subsequently, for 4 weeks, all brushing was omitted in order to establish an experimental gingivitis. After this pre-experimental period, the dogs were distributed into 3 groups of 4 dogs each: one group was brushed 7 times a week, a second was brushed 3 times a week and the third group was brushed only once a week. Brushing was carried out for 24 weeks, only on the right sides of the upper jaws, the left upper jaws serving as controls. At regular intervals, plaque index, gingival index and probing depths were assessed. A brushing effect was calculated for each dog, to include information on all within-dog and between-dog variations. The present study demonstrated that only by brushing every day can clinically healthy gingivae be obtained in the beagle dog model with experimental gingivitis at baseline. The state of gingival health at baseline may be used to determined the frequency of brushing necessary to create or maintain healthy gingivae.

  6. Hip joint pathology: relationship between patient history, physical tests, and arthroscopy findings in clinical practice.

    PubMed

    Tijssen, M; van Cingel, R E H; de Visser, E; Hölmich, P; Nijhuis-van der Sanden, M W G

    2017-03-01

    The purpose of this retrospective cohort study was to (a) describe the clinical presentation of femoroacetabular impingement (FAI) and hip labral pathology; (b) describe the accuracy of patient history and physical tests for FAI and labral pathology as confirmed by hip arthroscopy. Patients (18-65 years) were included if they were referred to a physical therapist to gather pre-operative data and were then diagnosed during arthroscopy. Results of pre-operative patient history and physical tests were collected and compared to arthroscopy. Data of 77 active patients (mean age: 37 years) were included. Groin as main location of pain, the Anterior Impingement test (AIT), Flexion-Abduction-External Rotation (FABER) test, and Fitzgerald test had a high sensitivity (range 0.72-0.91). Sensitivity increased when combining these tests (0.97) as either groin as main location of pain and a positive FABER test or a positive AIT and a positive FABER test were the shortest most sensitive combinations. The results of this study point out that in clinical practice absence of groin as main location of pain combined with a negative FABER test or the combination of a negative AIT and a negative FABER test are suggested to rule out the diagnosis of symptomatic FAI and/or labral pathology.

  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. Role of MIF in myocardial ischaemia and infarction: insight from recent clinical and experimental findings.

    PubMed

    Dayawansa, Nalin H; Gao, Xiao-Ming; White, David A; Dart, Anthony M; Du, Xiao-Jun

    2014-08-01

    First discovered in 1966 as an inflammatory cytokine, MIF (macrophage migration inhibitory factor) has been extensively studied for its pivotal role in a variety of inflammatory diseases, including rheumatoid arthritis and atherosclerosis. Although initial studies over a decade ago reported increases in circulating MIF levels following acute MI (myocardial infarction), the dynamic changes in MIF and its pathophysiological significance following MI have been unknown until recently. In the present review, we summarize recent experimental and clinical studies examining the diverse functions of MIF across the spectrum of acute MI from brief ischaemia to post-infarct healing. Following an acute ischaemic insult, MIF is rapidly released from jeopardized cardiomyocytes, followed by a persistent MIF production and release from activated immune cells, resulting in a sustained increase in circulating levels of MIF. Recent studies have documented two distinct actions of MIF following acute MI. In the supra-acute phase of ischaemia, MIF mediates cardioprotection via several distinct mechanisms, including metabolic activation, apoptosis suppression and antioxidative stress. In prolonged myocardial ischaemia, however, MIF promotes inflammatory responses with largely detrimental effects on cardiac function and remodelling. The pro-inflammatory properties of MIF are complex and involve MIF derived from cardiac and immune cells contributing sequentially to the innate immune response evoked by MI. Emerging evidence on the role of MIF in myocardial ischaemia and infarction highlights a significant potential for the clinical use of MIF agonists or antagonists and as a unique cardiac biomarker.

  9. Sex differences in pain: a brief review of clinical and experimental findings

    PubMed Central

    Bartley, E. J.; Fillingim, R. B.

    2013-01-01

    Summary Recent years have witnessed substantially increased research regarding sex differences in pain. The expansive body of literature in this area clearly suggests that men and women differ in their responses to pain, with increased pain sensitivity and risk for clinical pain commonly being observed among women. Also, differences in responsivity to pharmacological and non-pharmacological pain interventions have been observed; however, these effects are not always consistent and appear dependent on treatment type and characteristics of both the pain and the provider. Although the specific aetiological basis underlying these sex differences is unknown, it seems inevitable that multiple biological and psychosocial processes are contributing factors. For instance, emerging evidence suggests that genotype and endogenous opioid functioning play a causal role in these disparities, and considerable literature implicates sex hormones as factors influencing pain sensitivity. However, the specific modulatory effect of sex hormones on pain among men and women requires further exploration. Psychosocial processes such as pain coping and early-life exposure to stress may also explain sex differences in pain, in addition to stereotypical gender roles that may contribute to differences in pain expression. Therefore, this review will provide a brief overview of the extant literature examining sex-related differences in clinical and experimental pain, and highlights several biopsychosocial mechanisms implicated in these male–female differences. The future directions of this field of research are discussed with an emphasis aimed towards further elucidation of mechanisms which may inform future efforts to develop sex-specific treatments. PMID:23794645

  10. Clinical and laboratory findings in primary generalized and multiple-myeloma-related amyloidosis.

    PubMed Central

    Pruzanski, W.; Katz, A.

    1976-01-01

    Thirty-four patients with primary generalized amyloidosis (PGA) and 14 with multiple-myeloma-related amyloidosis (MRA) were studied. The commonest clinical manifestations in PGA were nephrotic syndrome, hepatomegaly and congestive heart failure, and in MRA, low back pain, plasmacytoma and rheumatoid-arthritis-like syndrome. Eight patients with PGA had limited clinical expression of the disease, such as involvement of only kidneys, joints, parotid glands or gastrointestinal tract; in one patient amyloidosis was limited to lymph nodes. Low serum concentrations of total protein and albumin were common. M components were detected in the serum of 91% of patients with PGA and 92% of patients with MRA: 70% of the M components in PGA and 25% of those in MRA had lambda light chains. Bence Jones proteinemia was detected in 56% of the patients with PGA and in 77% of those with MRA. The serum concentration of immunoglobulins was decreased substantially in more than two thirds of the patients with PGA. Proteinuria (greater than 250 mg/24 h) was observed in 78% of patients with PGA and in 93% of patients with MRA. Bence Jones proteinuria was noted in 75 and 77% of patients, respectively. Plasmacytic infiltration of the bone marrow was found in 90% of the patients with PGA. The mean survival time of the patients with PGA was 28 months and of those with MRA, 29 months from the time of diagnosis. PMID:1268776

  11. 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.

  12. Improving Hawaiian and Filipino Involvement in Clinical Research Opportunities: Qualitative Findings from Hawai'i

    PubMed Central

    Gollin, Lisa X.; Harrigan, Rosanne C.; Perez, John; Easa, David; Calderón, José L.

    2006-01-01

    Objective Investigate the barriers to participation in medical research that involves Asian and Pacific Islander (API) populations in Hawai'i. Participants Fifty people (27 Filipinos, 23 Hawaiian/Pacific Islanders) in five different communities on Oahu. Design Nine focus groups with an ethnically matched moderator were held to explore people's feelings, problems, and recommendations regarding medical research. Sessions were audiotaped, transcribed, and qualitatively analyzed with the constant comparison method. Results Only 12% of study participants said that they absolutely would not participate in a clinical study. Most agreed that research is vital. Filipino participants were more optimistic about the safety and value of joining in medical research. Hawaiian groups were more hesitant and fearful. Reasons for nonparticipation included negative feelings about the purpose and intent of clinical trials and language and cultural barriers. Suggestions on how to encourage API populations to participate in research investigations included improving peoples' understanding of the benefits to family and community. Hawaiian and Filipino groups differed only slightly in their assessments of the type of research needed in their communities. Conclusions Recruitment campaigns must improve people's awareness of the process of informed consent, research safeguards, and benefits to family and community. Attention should focus on K-12 health education to use members of the younger generations to access and educate elders, involving persons with medical research experience as a recruitment resource, returning results to study participants, and increasing the number of healthcare professionals and researchers that are culturally and linguistically matched to the community. PMID:16312944

  13. New clinical findings in the fragile X-associated tremor ataxia syndrome (FXTAS)

    PubMed Central

    Lazarus, Joash T.; Graves-Allen, Emily; Shubeck, Lisa; Rusin, Michelle; Novak, Gloria; Hamilton, Deborah; Rohr, Julia; Sherman, Stephanie L.

    2013-01-01

    The objective of this paper was to assess the phenotypic variance in patients with the Fragile X-associated Tremor Ataxia Syndrome (FXTAS) and to further elucidate genotype–phenotype correlations in the illness. A second goal was to generate hypotheses regarding symptom progression based on careful histories in our sample that can now be tested in ongoing longitudinal studies. The variability of clinical signs and symptom progression in FXTAS complicates our understanding of its phenotype and presents a series of problems in clinical trial design. Similarly, pre-motor and non-motor symptoms have not been adequately explored to answer outstanding questions regarding genotype–phenotype associations in FXTAS. This was a cross-sectional study of FMR1 premutation carriers from known fragile X syndrome pedigrees. We report on the first 50 subjects who have completed a full neurologic evaluation and a brain MRI. Subjects were selected on the basis of motor symptoms or abnormal results (>1 SD) on a quantitative instrument designed to detect mild tremor and ataxia (CATSYS 1994). A neuropsychological battery included the WAIS-III, COWA, and WCST. Statistical analysis used ANOVA and Fisher's exact test with p<0.05. All FMR1 premutation carriers were men of mean age 65±7 years. According to the diagnostic criteria of Jacquemont et al. (Am J Hum Genet 72(4):869–878, 2003), 21 subjects met criteria for definite FXTAS, 10 for probable, 9 for possible, and 10 were indeterminate. Duration of motor symptoms was significantly longer in the definitive group (8.6±6) compared to the other groups (p<0.01). The presentations in 40 subjects, excluding the indeterminate group, included: tremor 24, ataxia 5, memory symptoms 3, parkinsonism 2, and torticollis 1. The data suggest at least two dominant phenotypic presentations: (a) a tremor-dominant subtype in which the onset of ataxia is delayed; (b) a second in which ataxia is the dominant presentation from the outset. In both

  14. [Clinical findings and trace metals (zinc & copper) in Leber's congenital amaurosis].

    PubMed

    Zeng, L H

    1990-01-01

    Sixteen (16) patients of Leber's congenital amaurosis diagnosed with ERG all had nystagmus since infancy; 9 cases showed the digito-ocular sign and 15 had axial hyperopia on cycloplegic refraction and/or A-scan ultrasonography. The common ophthalmoscopic findings were narrow vessels, grayish coloration and pigmentation in the retina. The average serum zinc level of 12 cases was significantly lower than that of the controls, while the copper level differed not much. The results suggest that it is advisable for the child patients to receive cycloplegic refraction and proper spectacle correction as early as possible, and zinc therapy.

  15. Joubert syndrome with bilateral polymicrogyria: clinical and neuropathological findings in two brothers.

    PubMed

    Giordano, L; Vignoli, A; Pinelli, L; Brancati, F; Accorsi, P; Faravelli, F; Gasparotti, R; Granata, T; Giaccone, G; Inverardi, F; Frassoni, C; Dallapiccola, B; Valente, E M; Spreafico, R

    2009-07-01

    Joubert syndrome (JS) is characterized by hypotonia, ataxia, developmental delay, and a typical neuroimaging finding, the so-called "molar tooth sign" (MTS). The association of MTS and polymicrogyria (PMG) has been reported as a distinct JS-related disorder (JSRD). So far, five patients have been reported with this phenotype, only two of them being siblings. We report on one additional family, describing a living child with JS and PMG, and the corresponding neuropathological picture in the aborted brother. No mutations were detected in the AHI1 gene, the only so far associated with the JS + PMG phenotype. Moreover, linkage analysis allowed excluding all known gene loci, suggesting further genetic heterogeneity.

  16. Clinical and neuroimaging findings in neonatal herpes simplex virus infection.

    PubMed

    Bajaj, Monika; Mody, Swati; Natarajan, Girija

    2014-08-01

    In a retrospective review of infants with neonatal herpes simplex virus disease (n=29), we found bilateral multilobar (n=8), pontine (n=3), thalamic (n=6), and internal capsule and corticospinal tract (n=5) involvement on magnetic resonance imaging (MRI). Diffusion-weighted imaging (n=6) performed early revealed additional involvement than detected by conventional MRI. Neurodevelopmental sequelae were correlated with MRI abnormalities. Our findings demonstrate that MRI, including diffusion-weighted imaging, is a valuable prognostic adjunct in neonatal herpes simplex virus disease.

  17. Trigeminal nerve block with alcohol for medically intractable classic trigeminal neuralgia: long-term clinical effectiveness on pain

    PubMed Central

    Han, Kyung Ream; Chae, Yun Jeong; Lee, Jung Dong; Kim, Chan

    2017-01-01

    Background: Trigeminal nerve block (Tnb) with alcohol for trigeminal neuralgia (TN) may not be used widely as a percutaneous procedure for medically intractable TN in recent clinical work, because it has been considered having a limited duration of pain relief, a decrease in success rate and increase in complications on repeated blocks. Objectives: To evaluate the clinical outcome of the Tnb with alcohol in the treatment of medically intractable TN. Methods: Six hundred thirty-two patients were diagnosed with TN between March 2000 and February 2010. Four hundred sixty-five out of 632 underwent Tnb with alcohol under a fluoroscope. Pain relief duration were analyzed and compared in the individual branch blocks. Outcomes were compared between patients with and without a previous Tnb with alcohol. Results: Tnb with alcohol were performed in a total 710 (1st-465, 2nd-155, 3rd-55, 4th-23, 5th-8, 6th-4) cases for a series of consecutive 465 patients during the study period. Forty hundred sixty two out of the 465 patients experienced immediate complete pain relief (99%) at the first Tnb. Of the 465 patients, 218 patients (46.9%) did not require any further treatment after the first Tnb with alcohol during an entire study period. One hundred fifty nine (34.2 %) out of the 465 patients experienced recurring pain after the first block, among whom 155 patients received subsequent blocks, and the remaining 4 patients decided to take medication. According to the Kaplan-Meier analysis, the probabilities of remaining pain relief for 1, 2, 3, and 5 years after the procedures were 86.2%, 65.5%, 52.5%, and 33.4%, respectively. There was no significant difference in the probability of pain relief duration between patients with and without previous Tnb with alcohol. Median (95% CI) pain relief durations of the first and repeated blocks were 39 (36-51) and 37 (28-54) months, respectively. There was no significant difference in occurrence of complications between patients with and

  18. [A case of lichenoid sarcoidosis with characteristic clinical and histopathological findings].

    PubMed

    Sanchez-Lopez, Josefa; Porriño-Bustamante, Ma Librada; Aneiros-Fernández, Jose; Naranjo-Sintes, Ramon; Fernández-Pugnaire, Ma Antonia

    2014-04-16

    Sarcoidosis is a multisystem inflammatory disease characterized by the formation of noncaseating granulomas in various organs and tissues. The majority of patients with systemic sarcoidosis will present with lung and lymph node involvement. In addition, 20% have skin involvement that may be the only manifestation of the disease or may be an important prognostic marker for involvement of other organs. There are multiple forms of presentation of cutaneous sarcoidosis, which may be a true challenge.We report a patient with a one month history of an eruption of skin colored papules. Some were grouped in a symmetrical distribution on the trunk, inner arms, and lumbar region. Pathologic examination revealed an infiltrate in the papillary dermis showing a band of noncaseating granulomas along with disruption of the basal lamina and lichenoid changes. The clinicopathological correlation confirmed the diagnosis of lichenoid sarcoidosis. We consider our case interesting owing to the clinical presentation and the lichenoid distribution of granulomas.

  19. Combination Pharmacotherapies for Stimulant Use Disorder: A Review of Clinical Findings and Recommendations for Future Research

    PubMed Central

    Stoops, William W.; Rush, Craig R.

    2014-01-01

    Despite concerted efforts to identify a pharmacotherapy for managing stimulant use disorders, no widely effective medications have been approved. Innovative strategies are necessary to develop successful pharmacotherapies for stimulant use disorders. This manuscript reviews human laboratory studies and clinical trials to determine whether one such strategy, use of combination pharmacotherapies, holds promise. The extant literature shows that combination pharmacotherapy produced results that were better than placebo treatment, especially with medications shown to have efficacy as monotherapies. However, many studies did not compare individual constituents to the combination treatment, making it impossible to determine whether combination treatment is more effective than monotherapy. Future research should systematically compare combined treatments with individual agents using medications showing some efficacy when tested alone. PMID:24716825

  20. Finding the evidence: resources and skills for locating information on clinical effectiveness.

    PubMed

    Bidwell, S R

    2004-12-01

    Limited time and lack of knowledge about where and how to search for information often present barriers to practitioners who want to locate current best evidence for treating their patients. There is as yet no single place they can go to get an answer to all their questions. High quality clinical studies are difficult to filter out from the mass of information on large databases, and secondary resources of evaluated information are dispersed over hundreds of Internet sites worldwide. This overview presents a practical guide for the busy practitioner who searches only occasionally and needs to maximise the time spent. Major collections of secondary resources are identified and their individual features described briefly. Following this, several services using PubMed are outlined that automatically apply filters for studies with high quality research design. Further sources of information and assistance are listed for those who wish to learn more.

  1. Finding value in nursing care: a framework for quality improvement and clinical evaluation.

    PubMed

    Irvine, D; Sidani, S; Hall, L M

    1998-01-01

    Fiscal constraints have heightened attention to health care costs and patient outcomes as measures of health care system effectiveness. Determining which patient and costs outcomes nurses may be held accountable for requires differentiating the impact of dependent, independent and interdependent nursing activities. A nursing role effectiveness model that includes a number of structural variables is offered to help track quality improvement and research activities. Some of the nurse-sensitive patient outcomes that have been identified include: freedom from complications, clinical outcomes, functional health outcomes, knowledge outcomes, perceived health benefit (or satisfaction), and costs outcomes. This model can be used to evaluate the effectiveness of current as well as evolving nurse roles, processes, and structural changes.

  2. Granulomatous slack skin-like clinical findings in Sézary syndrome.

    PubMed

    Echeverria, Begoña; Vitiello, Magalys; Milikowski, Clara; Kerdel, Francisco

    2015-08-12

    Granulomatous slack skin (GSS) is a very rare condition that has been described as a variant of mycosis fungoides. It is characterized by the development of bulky and pendulous skin folds in flexural areas that are histologically formed by atypical T lymphocytes, histiocytes and giant cells. We report the case of a 37-year-old African-American female with history of Sézary syndrome (SS) that while on treatment for the disease and in a space of 1 month developed exorbitant slack folds in the axillae and cervical area mimicking GSS. The absence of giant cells and epithelioid granulomas in the biopsy ruled out this diagnosis. We report this peculiar SS presentation that clinically resembles GSS, but with histopathology that does not show the typical features of this condition. We also review the literature in regard to SS, GSS and granulomatous mycosis fungoides (GMF), particularly the existing criteria to differentiate these various entities.

  3. [Clinical findings and diagnosis of a severs parapoxvirus epidemic in Finnish reindeer].

    PubMed

    Büttner, M; von Einem, C; McInnes, C; Oksanen, A

    1995-12-01

    During the winter of 1992/93 a parapox epidemic in reindeer occurred in the southern and central areas of Finland which killed 400 animals and 2750 animals showed clinical symptoms. At least ten cases of human infections and disease were reported. In addition to the uncertain epidemiology, the diagnosis using conventional methods was difficult and time consuming. Based upon published sequence data of the parapoxvirus (PPV) ovis prototype strain NZ-2, two different polymerase chain reaction (PCR) protocols were performed. The detection of a PPV specific nucleotide sequence encoding a region of the 42 kD major envelope protein proved to be reproducible. DNA extraction from scab samples was not absolutely necessary prior to the PCR procedure. PCR for the detection of PPV infection can be recommended as a flanking diagnostic method, especially when electron microscopy shows negative results. PCR may be a useful method to differentiate sheep-poxvirus and to reveal epidemiology and identity of new PPV isolates.

  4. Do preclinical findings of methamphetamine-induced motor abnormalities translate to an observable clinical phenotype?

    PubMed

    Caligiuri, Michael P; Buitenhuys, Casey

    2005-12-01

    This review summarizes the preclinical literature of the effects of methamphetamine (MA) on subcortical dopaminergic and GABAergic mechanisms underlying motor behavior with the goal of elucidating the clinical presentation of human MA-induced movement disorders. Acute and chronic MA exposure in laboratory animal can lead to a variety of motor dysfunctions including increased locomotor activity, stereotypies, diminished or enhanced response times, and parkinsonian-like features. With the exception of psychomotor impairment and hyperkinesia, MA-induced movement disorders are not well documented in humans. This review attempts to draw parallels between the animal and human changes in basal ganglia neurochemistry associated with MA exposure and offers explanations for why a parkinsonian phenotype is not apparent among individuals who use and abuse MA. Significant differences in the expression of neurotoxicity and presence of multiple environmental and pharmacologic confounds may account for the lack of a parkinsonian phenotype in humans despite evidence of altered dopamine function.

  5. Subcortical laminar heterotopia in two sisters and their mother: MRI, clinical findings and pathogenesis.

    PubMed

    van der Valk, P H; Snoeck, I; Meiners, L C; des Portes, V; Chelly, J; Pinard, J M; Ippel, P F; van Nieuwenhuizen, O; Peters, A C

    1999-06-01

    MR imaging, clinical data and underlying pathogenesis of subcortical laminar heterotopia (SCLH), also known as band heterotopia, in two sisters and their mother are presented. On MR imaging a different degree of SCLH was found in all three affected family-members. The inversion recovery sequence was considered most useful in the demonstration of the heterotopic band of gray matter and the assessment of cortical thickness. The younger sister presented with epileptic seizures at the age of five months and a delayed achievement of developmental milestones. The older sister of seven years had epileptic seizures since the age of one year, and developmental delay. Their mother has only had one seizure-like episode at the age of 39. Her psychomotor development had been normal. Investigation of DNA samples of the three female family-members revealed a mutation in the X-linked doublecortin gene. Within families with band heterotopia, this gene has also been related to male family members with lissencephaly.

  6. [Importance of diabetic nephropathy in childhood. Clinical findings and basic research in recent decades].

    PubMed

    Fekete, Andrea; Vannay, Ádám

    2014-01-26

    Over the past decades diabetes mellitus is becoming a global pandemic affecting more than 371 million people worldwide. Parallel with the increasing prevalence of type 1 diabetes, there is a growing number of type 2 diabetes cases among children and adolescents that poses new challenges to pediatricians. Diabetic nephropathy is one of the major causes of end stage renal disease, developing in approximately 30% of diabetic patients. However, overt nephropathy is rare in childhood; screening and ongoing assessment for the earliest manifestation of renal injury is extremely important in this young population, as well. Although in the past decades intensive research activity focused on understanding of the pathomechanism of diabetic nephropathy and invention of new therapeutic approaches, prevention and definitive care are still urgently needed. The clinical section of the article summarizes the present state of epidemiology, diagnosis and current therapies of childhood diabetic nephropathy. Then, the authors discuss the state of basic research and show a few promising targets for drug development.

  7. UPDATE ON NEUROPHARMACOLOGICAL TREATMENTS FOR ALCOHOLISM: SCIENTIFIC BASIS AND CLINICAL FINDINGS

    PubMed Central

    JOHNSON, BANKOLE A.

    2008-01-01

    The past decade has seen an expansion of research and knowledge on pharmacotherapy for the treatment of alcohol dependence. The Food and Drug Administration (FDA)–approved medications naltrexone and acamprosate have shown mixed results in clinical trials. Oral naltrexone and naltrexone depot formulations have generally demonstrated efficacy at treating alcohol dependence, but their treatment effect size is small, and more research is needed to compare the effects of different doses on drinking outcome. Acamprosate has demonstrated efficacy for treating alcohol dependence in European trials, but with a small effect size. In U.S. trials, acamprosate has not proved to be efficacious. Research continues to explore which types of alcohol-dependent individual would benefit the most from treatment with naltrexone or acamprosate. The combination of the two medications demonstrated efficacy for treating alcohol dependence in one European study but not in a multi-site U.S. study. Another FDA-approved medication, disulfiram, is an aversive agent that does not diminish craving for alcohol. Disulfiram is most effective when given to those who are highly compliant or who are receiving their medication under supervision. Of the non-approved medications, topiramate is among the most promising, with a medium effect size in clinical trials. Another promising medication, baclofen, has shown efficacy in small trials. Serotonergic agents such as selective serotonin reuptake inhibitors and the serotonin-3 receptor antagonist, ondansetron, appear to be efficacious only among certain genetic subtypes of alcoholic. As neuroscientific research progresses, other promising medications, as well as medication combinations, for treating alcohol dependence continue to be explored. PMID:17880925

  8. Factors facilitating a national quality registry to aid clinical quality improvement: findings of a national survey

    PubMed Central

    Eldh, Ann Catrine; Wallin, Lars; Fredriksson, Mio; Vengberg, Sofie; Winblad, Ulrika; Halford, Christina; Dahlström, Tobias

    2016-01-01

    Objectives While national quality registries (NQRs) are suggested to provide opportunities for systematic follow-up and learning opportunities, and thus clinical improvements, features in registries and contexts triggering such processes are not fully known. This study focuses on one of the world's largest stroke registries, the Swedish NQR Riksstroke, investigating what aspects of the registry and healthcare organisations facilitate or hinder the use of registry data in clinical quality improvement. Methods Following particular qualitative studies, we performed a quantitative survey in an exploratory sequential design. The survey, including 50 items on context, processes and the registry, was sent to managers, physicians and nurses engaged in Riksstroke in all 72 Swedish stroke units. Altogether, 242 individuals were presented with the survey; 163 responded, representing all but two units. Data were analysed descriptively and through multiple linear regression. Results A majority (88%) considered Riksstroke data to facilitate detection of stroke care improvement needs and acknowledged that their data motivated quality improvements (78%). The use of Riksstroke for quality improvement initiatives was associated (R2=0.76) with ‘Colleagues’ call for local results’ (p=<0.001), ‘Management Request of Registry data’ (p=<0.001), and it was said to be ‘Simple to explain the results to colleagues’ (p=0.02). Using stepwise regression, ‘Colleagues’ call for local results’ was identified as the most influential factor. Yet, while 73% reported that managers request registry data, only 39% reported that their colleagues call for the unit's Riksstroke results. Conclusions While an NQR like Riksstroke demonstrates improvement needs and motivates stakeholders to make progress, local stroke care staff and managers need to engage to keep the momentum going in terms of applying registry data when planning, performing and evaluating quality initiatives. PMID

  9. 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.

  10. Experimental infection of dogs with a Brazilian strain of Rickettsia rickettsii: clinical and laboratory findings.

    PubMed

    Piranda, Eliane M; Faccini, João Luis H; Pinter, Adriano; Saito, Tais B; Pacheco, Richard C; Hagiwara, Mitika K; Labruna, Marcelo B

    2008-11-01

    The bacterium Rickettsia rickettsii is the etiological agent of an acute, severe disease called Rocky Mountain spotted fever in the United States or Brazilian spotted fever (BSF) in Brazil. In addition to these two countries, the disease has also been reported to affect humans in Mexico, Costa Rica, Panama, Colombia and Argentina. Like humans, dogs are also susceptible to R. rickettsii infection. However, despite the wide distribution of R. rickettsii in the Western Hemisphere, reports of R. rickettsii-induced illness in dogs has been restricted to the United States. The present study evaluated the pathogenicity for dogs of a South American strain of R. rickettsii. Three groups of dogs were evaluated: group 1 (G1) was inoculated ip with R. rickettsii; group 2 (G2) was infested by R. rickettsii-infected ticks; and the control group (G3) was infested by uninfected ticks. During the study, no clinical abnormalities, Rickettsia DNA or R. rickettsii-reactive antibodies were detected in G3. In contrast, all G1 and G2 dogs developed signs of rickettsial infection, i.e., fever, lethargy, anorexia, ocular lesions, thrombocytopenia, anemia and detectable levels of Rickettsia DNA and R. rickettsii-reactive antibodies in their blood. Rickettsemia started 3-8 days after inoculation or tick infestation and lasted for 3-13 days. Our results indicate that a Brazilian strain of R. rickettsii is pathogenic for dogs, suggesting that canine clinical illness due to R. rickettsii has been unreported in Brazil and possibly in the other South American countries where BSF has been reported among humans.

  11. GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings

    PubMed Central

    Caciotti, Anna; Garman, Scott C; Rivera-Colón, Yadilette; Procopio, Elena; Catarzi, Serena; Ferri, Lorenzo; Guido, Carmen; Martelli, Paola; Parini, Rossella; Antuzzi, Daniela; Battini, Roberta; Sibilio, Michela; Simonati, Alessandro; Fontana, Elena; Salviati, Alessandro; Akinci, Gulcin; Cereda, Cristina; Dionisi-Vici, Carlo; Deodato, Francesca; d’Amico, Adele; d’Azzo, Alessandra; Bertini, Enrico; Filocamo, Mirella; Scarpa, Maurizio; di Rocco, Maja; Tifft, Cynthia J; Ciani, Federica; Gasperini, Serena; Pasquini, Elisabetta; Guerrini, Renzo; Donati, Maria Alice; Morrone, Amelia

    2011-01-01

    GM1 gangliosidosis and Morquio B syndrome, both arising from beta-galactosidase (GLB1) deficiency, are very rare lysosomal storage diseases with an incidence of about 1:100,000– 1:200,000 live births worldwide. Here we report the beta-galactosidase gene (GLB1) mutation analysis of 21 unrelated GM1 gangliosidosis patients, and of 4 Morquio B patients, of whom two are brothers. Clinical features of the patients were collected and compared with those in literature. In silico analyses were performed by standard alignments tools and by an improved version of GLB1 three-dimensional models. The analysed cohort includes remarkable cases. One patient with GM1 gangliosidosis had a triple X syndrome. One patient with juvenile GM1 gangliosidosis was homozygous for a mutation previously identified in Morquio type B. A patient with infantile GM1 gangliosidosis carried a complex GLB1 allele harbouring two genetic variants leading to p.R68W and p.R109W amino acid changes, in trans with the known p.R148C mutation. Molecular analysis showed 27 mutations, 9 of which are new: 5 missense, 3 microdeletions and a nonsense mutation. We also identified four new genetic variants with a predicted polymorphic nature that was further investigated by in silico analyses. Three-dimensional structural analysis of GLB1 homology models including the new missense mutations and the p.R68W and p.R109W amino acid changes, showed that all the amino acids replacements affected the resulting protein structures in different ways, from changes in polarity to folding alterations. Genetic and clinical associations led us to undertake a critical review of the classifications of late-onset GM1 gangliosidosis and Morquio B disease. PMID:21497194

  12. 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

  13. Magnetic resonance elastography (MRE) of the human brain: technique, findings and clinical applications

    NASA Astrophysics Data System (ADS)

    Hiscox, Lucy V.; Johnson, Curtis L.; Barnhill, Eric; McGarry, Matt D. J.; Huston 3rd, John; van Beek, Edwin J. R.; Starr, John M.; Roberts, Neil

    2016-12-01

    Neurological disorders are one of the most important public health concerns in developed countries. Established brain imaging techniques such as magnetic resonance imaging (MRI) and x-ray computerised tomography (CT) have been essential in the identification and diagnosis of a wide range of disorders, although usually are insufficient in sensitivity for detecting subtle pathological alterations to the brain prior to the onset of clinical symptoms—at a time when prognosis for treatment is more favourable. The mechanical properties of biological tissue provide information related to the strength and integrity of the cellular microstructure. In recent years, mechanical properties of the brain have been visualised and measured non-invasively with magnetic resonance elastography (MRE), a particularly sensitive medical imaging technique that may increase the potential for early diagnosis. This review begins with an introduction to the various methods used for the acquisition and analysis of MRE data. A systematic literature search is then conducted to identify studies that have specifically utilised MRE to investigate the human brain. Through the conversion of MRE-derived measurements to shear stiffness (kPa) and, where possible, the loss tangent (rad), a summary of results for global brain tissue and grey and white matter across studies is provided for healthy participants, as potential baseline values to be used in future clinical investigations. In addition, the extent to which MRE has revealed significant alterations to the brain in patients with neurological disorders is assessed and discussed in terms of known pathophysiology. The review concludes by predicting the trends for future MRE research and applications in neuroscience.

  14. Incidental Lewy Body Disease: Electrophysiological Findings Suggesting Pre-clinical Lewy Body Disorders

    PubMed Central

    Caviness, John N.; Adler, Charles H.; Hentz, Joseph G.; Shill, Holly A.; Evidente, Virgilio G.H.; Driver-Dunckley, Erika D.; Sabbagh, Marwan N.; Sue, Lucia; Beach, Thomas G.

    2011-01-01

    Objective Evaluate electrophysiologic findings in incidental Lewy Body disease (ILBD). Methods ILBD, Control, and Parkinson's disease (PD) subjects had electrophysiological evaluation within two years prior to autopsy. Data analyzed included surface electromyography (EMG) of upper extremity muscles during rest and muscle activation, and electroencephalography (EEG) recording at rest. For EMG, gross tracings and spectral peaks were analyzed. EEG measures analyzed were background frequency and power in delta, theta, alpha, and beta bands. Results Three of ten ILBD subjects (30%) showed unilateral rhythmic EMG discharges at rest without a visually apparent rest tremor. The ILBD resting EMG frequency was lower than in the Control group with no overlap (P=0.03) and close to that of the PD group. The ILBD group had significantly lower background rhythm frequency than the Control group (P=0.001) but was greater than the PD group (P=0.01). Conclusions The electrophysiologic changes in ILBD cases are between those of Control and PD, suggesting that these findings may reflect changes correlating with ILBD as a possible precursor to PD. Significance Electrophysiologic changes in ILBD may assist with the identification of a preclinical stage for Lewy body disorders and help the development of a therapeutic agent for modifying Lewy body disease progression. PMID:21616709

  15. A case of bilateral patellar osteochondrosis and fracture in a cat. Clinical and histological findings.

    PubMed

    Palierne, S; Palissier, F; Raymond-Letron, I; Autefage, A

    2010-01-01

    Fracture of the patella associated with bilateral osteochondrosis of the superior pole of the patella in a 14-week-old cat is reported with histological findings. Patellar osteochondrosis has been described in humans, horses, pigs, and dogs and is characterised by incomplete union of the ossification centres related to an abnormal process of endochondral ossification. However this disease has not yet been described in cats. Macroscopically, two main fragments separated by interposed tissue were identified on the left patella. In contrast, no fracture but only a fissuration of the articular cartilage was observed on the right patella. Bilateral partial patellectomy was performed. Histological examination of the excised fragments from the left patella revealed two main areas of trabecular bone separated by a wide irregular band of hyaline cartilage. The microscopic aspect of the right patella was similar to that of the left. Serial sections showed the initial appearance of an area of necrosis in the central band of hyaline cartilage, and that this hyaline cartilage was subsequently replaced by fibrovascular connective tissue. These findings indicate that some patellar fractures may be due to patellar osteochondrosis.

  16. Adolescent Outpatient Treatment and Continuing Care: Main Findings from a Randomized Clinical Trial*

    PubMed Central

    Godley, Susan H.; Garner, Bryan R.; Passetti, Lora L.; Funk, Rodney R.; Dennis, Michael L.; Godley, Mark D.

    2010-01-01

    This study evaluated the effectiveness and cost-effectiveness of two types of outpatient treatment with and without Assertive Continuing Care (ACC) for 320 adolescents with substance use disorders. Study participants were randomly assigned to one of four conditions: (a) Chestnut’s Bloomington Outpatient Treatment (CBOP) without ACC; (b) CBOP with ACC; (c) Motivational Enhancement Therapy/Cognitive Behavior Therapy-7 session model (MET/CBT7) without ACC; and (d) MET/CBT7 with ACC. All study conditions attained high rates of participant engagement and retention. Follow-up interviews were completed with over 90% of the adolescents at three, six, nine, and twelve months after treatment admission. There was a significant time by condition effect over 12 months, with CBOP having a slight advantage for average percentage of days abstinent. Unlike previous findings that ACC provided incremental effectiveness following residential treatment, there were no statistically significant findings with regard to the incremental effectiveness of ACC following outpatient treatment. Analysis of the costs of each intervention combined with its outcomes revealed that the most cost-effective condition was MET/CBT7 without ACC. PMID:20219293

  17. 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; Bone Jeng, Linda Jo; Joseph, Loren; Laser, Jordan; Lubin, Ira M; Miller, Christine E; Ross, Lainie F; Rothberg, Paul G; Tanner, Alice K; Vitazka, Patrik; Mao, Rong

    2015-02-11

    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.

  18. 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.

  19. 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

  20. 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.

  1. Metabolic Polymorphisms and Clinical Findings Related to Benzene Poisoning Detected in Exposed Brazilian Gas-Station Workers

    PubMed Central

    Mitri, Simone; Fonseca, Antônio Sérgio Almeida; Otero, Ubirani Barros; Tabalipa, Marianne Medeiros; Moreira, Josino Costa; Sarcinelli, Paula de Novaes

    2015-01-01

    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. PMID:26197327

  2. Bone morphogenetic proteins in orthopaedic trauma: recent clinical findings with human bone morphogenetic protein-2 (rhBMP-2).

    PubMed

    Patel, A D

    2006-01-01

    This article introduces papers based on presentations from a symposium entitled "Bone Morphogenic Protein Advisory Meeting in Orthopaedic Trauma", where recent clinical findings with human bone morphogenetic protein-2 (rhBMP-2) were reviewed. It also presents two case studies which illustrate the clinical problems with the potential morbidity of tibial fractures and the potential benefits of the use of rhBMP-2 at surgery. The article concludes with a summary of the symposium. Tibial shaft fracture repair is associated with a significant financial burden on the patient, the health care providers and the medical insurance companies. It is anticipated that the clinical advantages of rhBMP-2 could lead to cost savings both inside and outside the hospital setting.

  3. 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

  4. Clinical findings, rhinoscopy and histological evaluation of 54 dogs with chronic nasal disease

    PubMed Central

    Pietra, Marco; Pasquali, Flavio; Romagnoli, Noemi; Bettini, Giuliano; Spadari, Alessandro

    2010-01-01

    Nasal diseases are very common in dogs and rhinoscopy is often required for a definitive diagnosis. Rhinoscopy, while superficial in nature, can guide the clinician to the final diagnosis. In this study, rhinoscopy was performed on 54 dogs with symptoms of chronic nasopharyngeal disease. The endoscopic diagnosis of neoplasia or chronic nasal inflammation was validated with histological examination of pathological samples, in order to evaluate the degree of concordance between endoscopic findings and histological diagnosis. The agreement between endoscopy and histology was tested by application of Cohen's kappa coefficient. We conclude that correlation between endoscopic results and histological diagnosis, expressed by a Cohen's kappa coefficient of 0.73, is only possible with a constant cooperation between the clinician and the pathologist. PMID:20706033

  5. 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

  6. Recurrent ptosis in a patient with blepharochalasis: clinical and histopathologic findings.

    PubMed

    Takahashi, Yasuhiro; Zheng, Xiaodong; Mito, Hidenori; Noma, Kazunami; Kakizaki, Hirohiko

    2015-01-01

    A 37-year-old woman presented with right upper eyelid blepharochalasis with ptosis. Right upper eyelid edema had occurred 2 to 3 times per year by 30 years old, although the frequency decreased with age. The edema occurred spontaneously and resolved within 1 to 2 days. She underwent a right levator tucking surgery at 22 years old, and the ptosis recurred 2 years postoperatively. She again underwent ptosis surgery with skin excision at 37 years old. The intraoperative findings showed a thin levator aponeurosis. The white line was therefore advanced to the upper tarsal edge, resulting in an appropriate height and curvature. Three months later, the patient's eyelid height was 1.5 mm higher with a little temporal peaking. The levator aponeurosis was histopathologically shown to contain many capillaries. The increased vascularity of the levator aponeurosis may contribute to recurrent bouts of edema resulting in stretching and disinsertion of the aponeurosis.

  7. Clinical and pathologic findings of myocarditis in two families with dilated cardiomyopathy

    SciTech Connect

    O'Connell, J.B.; Fowles, R.E.; Robinson, J.A.; Subramanian, R.; Henkin, R.E.; Gunnar, R.M.

    1984-01-01

    The use of endomyocardial biopsy and gallium-67 scans in patients with dilated cardiomyopathy (DCM) has demonstrated the presence of myocardial inflammation in a subset of patients. A family with DCM was studied with endomyocardial biopsy and gallium-67 scanning; both identified the presence of myocarditis in the proband. Evaluation of histologic sections from deceased family members revealed myocarditis as the principal pathologic finding. This patient identified during life demonstrated a defect in suppressor lymphocytic function and improved with immunosuppressive therapy. A second family with DCM was discovered when postmortem examination of the proband and his father's heart showed myocarditis. A living sibling was identified with asymptomatic myocardial dysfunction. Longitudinal follow-up of surviving members of both families are in progress. This study indicates that thorough diagnostic evaluation of all patients with familial DCM should be pursued to identify subgroups with potentially treatable inflammation.

  8. [Etiology of pediatric inpatients with pneumonia--analysis of clinical symptoms, physical examination and simple laboratory findings].

    PubMed

    Ishiwada, N; Kurosaki, T; Toba, T; Niimi, H

    1995-03-01

    In pediatric patients with community-acquired pneumonia, most of the patients have received antibiotics before admission. In this study, we tried to determine whether we could identify the etiology of pneumonia by clinical and laboratory findings on admission. The etiology of acute pneumonia was studied in 596 pediatric inpatients. A pathogen was identified in 384 (64.4%) episodes of pneumonia. These 384 episodes were divided into six groups as follows; I: pneumonia with blood culture positive or pneumonia with bacterial antigen positive in urine, II: pneumonia with dominant bacterial pathogens in washed sputum. III: Mycoplasma pneumonia, IV: viral pneumonia, V: bacterial (I, II) + viral pneumonia, VI: bacterial (I, II) + Mycoplasma pneumonia. These groups were analyzed by clinical symptoms, physical examination and simple laboratory findings on admission. Patients with Mycoplasma pneumonia have increased blood sedimentation rate, high value of positive C-reactive protein and normal white blood cell count. It was difficult to distinguish bacterial pneumonia from viral pneumonia only based upon clinical symptoms, physical examination and simple laboratory findings.

  9. Clinical implication of computed tomography findings in patients with locally advanced squamous cell carcinoma of the larynx and hypopharynx.

    PubMed

    Ryu, In Sun; Lee, Jeong Hyun; Roh, Jong-Lyel; Choi, Seung-Ho; Nam, Soon Yuhl; Kim, Sang Yoon; Cho, Kyung-Ja

    2015-10-01

    Accurate tumor staging including involvement of laryngeal cartilage is important to treatment planning. Clinicians rely on imaging findings and determine initial laryngectomy for T4-stage cancer with functionless larynx or extralaryngeal spread (ELS). We examined the accuracy and prognostic value of preoperative CT findings for tumor staging in patients with locally advanced laryngeal and hypopharyngeal cancer. Ninety-four consecutive patients with clinically T3-T4-stage squamous cell carcinoma of the larynx or hypopharynx who underwent curative resection of primary tumor were reviewed. Preoperative CT findings were interpreted by a radiologist without pathologic information. Pathologic findings were used as the gold standard for correlating radiographic findings. CT imaging identified 23 (72%) of 32 cases of pathologically documented thyroid cartilage penetration and 24 (73%) of 33 cases of pathologically documented ELS. The positive predictive values for thyroid cartilage penetration and ELS were 70 and 80%, respectively. Pretreatment CT imaging up-staged 6 of 46 pT3 cases and all of 8 pT2 cases, while it down-staged 7 of 40 pT4 cases. The accuracy for clinical staging by CT imaging was 78%. Subglottic extension of the CT image was an independent variable for predicting thyroid cartilage penetration and ELS (P = 0.014). Thyroid cartilage penetration with or without ELS on CT scans is significantly associated with unfavorable DFS outcome of patients (P = 0.020). CT imaging is suboptimal in diagnosing TCP or ELS of advanced laryngeal cancer, but may be useful to predict patient survival by identifying clinically TCP.

  10. 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

  11. Clinical and Laboratory Findings in Patients with δ-Storage Pool Disease: A Case Series.

    PubMed

    Selle, Fabien; James, Chloé; Tuffigo, Marie; Pillois, Xavier; Viallard, Jean-François; Alessi, Marie-Christine; Fiore, Mathieu

    2017-02-01

    Platelet δ-storage pool disease (δ-SPD) is a platelet function disorder characterized by a reduction in the number or content of dense granules. Reports on δ-SPD are mostly limited to case presentations. We aimed to retrospectively describe a series of patients with δ-SPD to better characterize the disease. We studied 16 patients with congenital or acquired δ-SPD. Lumiaggregometry, α- and δ-granules content, platelet ultrastructure, αIIbβ3 integrin, and glycoprotein Ib (GPIb) activation were assessed. Most of the patients generally demonstrate mild to moderate bleeding diathesis. Platelet aggregation studies showed moderate abnormalities with variable profiles, while all the individuals had almost complete absence of adenosine triphosphate release. Mepacrine capture, CD63 expression, and study of dense granules by electron microscopy enabled to distinguish different subtypes of δ-SPD with quantitative or qualitative defect. Surprisingly, significantly decreased GPIb expression levels after platelet activation with thrombin receptor activating peptide 50 μM were found, suggesting that GPIb-impaired mobilization may represent an additional feature of the disorder. In conclusion, δ-SPD represents a complex disorder with various clinical and biological aspects, requiring a great deal of expertise to be properly diagnosed.

  12. Clinical, cytogenetic, environmental and inheritance findings in Mexican neonates with VACTERL association.

    PubMed

    Salinas-Torres, Victor M; Pérez-García, Nicolás; Pérez-García, Guillermo

    2015-01-01

    In this series the authors evaluate clinical, cytogenetic, environmental and inheritance characteristics of neonates with VACTERL association. Twenty-six patients were diagnosed with VACTERL association and had a normal somatometric profile. Fifty-eight percent cases were males. The frequency of each component was: vertebral defects (V), 77 %; anal atresia (A), 62 %; tracheo-esophageal fistula/esophageal atresia (TEF/EA), 58 %; renal anomalies (R), 58 %; limb abnormalities (L), 50 %, and cardiac malformations (C), 42 %. The most frequent combination was VAR (n = 3). Sixteen patients had non-VACTERL anomalies such as bilateral cryptorchidism (n = 4). Two probands (8 %) had first or second-degree relatives with two components. Five patients (19 %) had environmental factors that interacted with occurrence of VACTERL association. All patients had a normal karyotype. This study contributes to a better characterization of VACTERL phenotype in neonatal period. In spite of predominant sporadic occurrence, underlying genetic susceptibility and environmental influences point to a complex interplay between genes and environmental factors in VACTERL association.

  13. Additional diverse findings expand the clinical presentation of DOCK8 deficiency.

    PubMed

    Sanal, Ozden; Jing, Huie; Ozgur, Tuba; Ayvaz, Deniz; Strauss-Albee, Dara M; Ersoy-Evans, Sibel; Tezcan, Ilhan; Turkkani, Gulten; Matthews, Helen F; Haliloglu, Goknur; Yuce, Aysel; Yalcin, Bilgehan; Gokoz, Ozay; Oguz, Kader K; Su, Helen C

    2012-08-01

    We describe seven Turkish children with DOCK8 deficiency who have not been previously reported. Three patients presented with typical features of recurrent or severe cutaneous viral infections, atopic dermatitis, and recurrent respiratory or gastrointestinal tract infections. However, four patients presented with other features. Patient 1-1 featured sclerosing cholangitis and colitis; patient 2-1, granulomatous soft tissue lesion and central nervous system involvement, with primary central nervous system lymphoma found on follow-up; patient 3-1, a fatal metastatic leiomyosarcoma; and patient 4-2 showed no other symptoms initially besides atopic dermatitis. Similar to other previously reported Turkish patients, but in contrast to patients of non-Turkish ethnicity, the patients' lymphopenia was primarily restricted to CD4(+) T cells. Patients had homozygous mutations in DOCK8 that altered splicing, introduced premature terminations, destabilized protein, or involved large deletions within the gene. Genotyping of remaining family members showed that DOCK8 deficiency is a fully penetrant, autosomal recessive disease. In our patients, bone marrow transplantation resulted in rapid improvement followed by disappearance of viral skin lesions, including lesions resembling epidermodysplasia verruciformis, atopic dermatitis, and recurrent infections. Particularly for patients who feature unusual clinical manifestations, immunological testing, in conjunction with genetic testing, can prove invaluable in diagnosing DOCK8 deficiency and providing potentially curative treatment.

  14. Gingival health and frequency of tooth brushing in the beagle dog model. Clinical findings.

    PubMed

    Tromp, J A; Jansen, J; Pilot, T

    1986-02-01

    The aim of this experiment was to study clinical parameters when 3 different frequencies of plaque removal were applied to healthy gingivae in the beagle dog model. The maxillary first, second and third premolars of 12 beagle dogs, at the start of the experiment 2 years of age, were, after a thorough cleaning, submitted to daily plaque removal during a pre-experimental period of 8 weeks. At the start of the experiment, the dogs were distributed into 3 groups of 4 dogs each: one group was brushed 7 times a week, a second group was brushed 3 times a week and another group was brushed only once a week. Brushing was executed over a period of 24 weeks, on the right sides of the upper jaws. The left upper jaws served as controls. At regular intervals, the plaque index, the gingival index and probing depths were assessed. A "brushing effect" was calculated for each dog, to include information on all within-dog and between dog variations. Comparison of brushing effects revealed that in this experimental model, plaque removal with a frequency of 3 times a week was sufficient to preserve gingival health, whereas tooth brushing once a week resulted in gingival inflammation. Therefore it can be concluded that 3 times a week is the critical brushing frequency in the beagle dog model with healthy gingiva at baseline.

  15. 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

  16. Clinical findings, diagnostic approach, and outcome of Brucella melitensis epididymo-orchitis.

    PubMed

    Colmenero, Juan D; Muñoz-Roca, Nuria L; Bermudez, Pilar; Plata, Antonio; Villalobos, Aurora; Reguera, Jose M

    2007-04-01

    We have studied 912 patients with brucellosis. Of these, 631 (69.2%) were male and 48 had epididymo-orchitis, giving an incidence of epididymo-orchitis of 7.6%. The duration of symptoms before diagnosis was 52.5 +/- 70 days. All the patients had fever, swelling, and scrotal pain, but only 2 (4.2%) reported urinary symptoms. Seven patients (14.5%) had leukocyte figures above 11 x 10(9)/L, and urine analysis was normal in 69% of the patients. Blood cultures were positive in 65.8% of cases. A total of 33 patients (68.8%) received a combination of doxycycline plus streptomycin and 13 (27.1%) doxycycline plus rifampin. The overall percentage of failure or relapse was 8.8%: 7.1% in the doxycycline plus streptomycin group and 20% in the doxycycline plus rifampin group. None of the patients required surgery. Pending clinical trials to confirm the results, conservative management with a combination of doxycycline for 2 months and streptomycin for 14 to 21 days appears to be adequate and could avoid unnecessary orchiectomy.

  17. Preventative and therapeutic probiotic use in allergic skin conditions: experimental and clinical findings.

    PubMed

    Özdemir, Öner; Erol, Azize Yasemin Göksu

    2013-01-01

    Probiotics are ingested live microbes that can modify intestinal microbial populations in a way that benefits the host. The interest in probiotic preventative/therapeutic potential in allergic diseases stemmed from the fact that probiotics have been shown to improve intestinal dysbiosis and permeability and to reduce inflammatory cytokines in human and murine experimental models. Enhanced presence of probiotic bacteria in the intestinal microbiota is found to correlate with protection against allergy. Therefore, many studies have been recently designed to examine the efficacy of probiotics, but the literature on the allergic skin disorders is still very scarce. Here, our objective is to summarize and evaluate the available knowledge from randomized or nonrandomized controlled trials of probiotic use in allergic skin conditions. Clinical improvement especially in IgE-sensitized eczema and experimental models such as atopic dermatitis-like lesions (trinitrochlorobenzene and picryl chloride sensitizations) and allergic contact dermatitis (dinitrofluorobenzene sensitization) has been reported. Although there is a very promising evidence to recommend the addition of probiotics into foods, probiotics do not have a proven role in the prevention or the therapy of allergic skin disorders. Thus, being aware of possible measures, such as probiotics use, to prevent/heal atopic diseases is essential for the practicing allergy specialist.

  18. 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.

  19. 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.

  20. Do clinical and immunohistochemical findings of pure mucinous breast carcinoma differ from mixed mucinous breast carcinoma?

    PubMed

    Erhan, Y; Ciris, M; Zekioglu, O; Erhan, Y; Kapkac, M; Makay, O; Ozdemir, N

    2009-01-01

    Mucinous carcinoma of the breast is a relatively rare histologic type with two subtypes: pure and mixed. It has a favourable prognosis with a low risk of axillary metastases. The prognosis for pure mucinous carcinoma (PMC) was much better than for the mixed mucinous carcinoma (MMC). The aim of the study is to determine suitable candidates for breast or axillary conservation in mucinous carcinoma subtypes. The slides of 26 pure and 23 mixed mucinous carcinomas of the breast were evaluated. The clinical, pathological and immunohistochemical features between PMCs and MMCs were compared. MMC displayed greater metastatic potential (p < 0.05), p53 positivity (p < 0.05) and c-erbB-2 positivity (p <0.001) than PMCs. PMCs smaller than 2 cm had less metastatic capacity and extranodal invasion compared to MMCs smaller than 2 cm (p < 0.001 and p < 0.01, respectively). MMCs smaller than 2 cm displayed weaker ER positivity but greater c-erbB-2 positivity than PMCs smaller than 2 cm (p < 0.01). In conclusion, MMC had worse prognostic factors than PMC with both types of mucinous carcinoma showing similar ER and PR positive status. Even if PMCs and especially smaller PMCs display more favourable prognostic features, including less axillary lymph node involvement, it is appropriate to use sentinel lymph node biopsy to make better axillary assessment.

  1. Preventative and Therapeutic Probiotic Use in Allergic Skin Conditions: Experimental and Clinical Findings

    PubMed Central

    Özdemir, Öner; Göksu Erol, Azize Yasemin

    2013-01-01

    Probiotics are ingested live microbes that can modify intestinal microbial populations in a way that benefits the host. The interest in probiotic preventative/therapeutic potential in allergic diseases stemmed from the fact that probiotics have been shown to improve intestinal dysbiosis and permeability and to reduce inflammatory cytokines in human and murine experimental models. Enhanced presence of probiotic bacteria in the intestinal microbiota is found to correlate with protection against allergy. Therefore, many studies have been recently designed to examine the efficacy of probiotics, but the literature on the allergic skin disorders is still very scarce. Here, our objective is to summarize and evaluate the available knowledge from randomized or nonrandomized controlled trials of probiotic use in allergic skin conditions. Clinical improvement especially in IgE-sensitized eczema and experimental models such as atopic dermatitis-like lesions (trinitrochlorobenzene and picryl chloride sensitizations) and allergic contact dermatitis (dinitrofluorobenzene sensitization) has been reported. Although there is a very promising evidence to recommend the addition of probiotics into foods, probiotics do not have a proven role in the prevention or the therapy of allergic skin disorders. Thus, being aware of possible measures, such as probiotics use, to prevent/heal atopic diseases is essential for the practicing allergy specialist. PMID:24078929

  2. 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.

  3. The Correlation of Endoscopic Findings and Clinical Features in Korean Patients with Scrub Typhus: A Cohort Study

    PubMed Central

    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

  4. 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.

  5. Clinical and Pathological Findings of a Fatal Systemic Capillary Leak Syndrome (Clarkson Disease)

    PubMed Central

    Zancanaro, Andrea; Serafini, Francesco; Fantin, Giuseppe; Murer, Bruno; Cicardi, Marco; Bonanni, Luca; Dalla Vestra, Michele; Scanferlato, Mauro; Mazzanti, Giovanni; Presotto, Fabio

    2015-01-01

    Abstract Systemic capillary leak syndrome (SCLS) is a rare disorder with episodes of hypotension, hypoalbuminemia, and hemoconcentration. During attacks endothelial hyperpermeability results in leakage of plasma proteins into the interstitial space. Attacks vary in severity and may be lethal. A 49-year-old previously healthy man was admitted to hospital for hypovolemic shock, anasarca with pleuropericardial effusion, muscle fatigue, and oliguria occurring after a flu-like syndrome. Laboratory data showed an increase in hematocrit (65%), leucocytes (24.590 μ/L), creatinine (2.5 mg/dL), creatine phosphokinase (10.000 U/L), and a decrease in serum albumin (17 g/L) without proteinuria. Immunoglobulins of class G/λ monoclonal gammopathy were detected (1.3 g/L). The initial suspicions addressed to a protein-loosing syndrome or to an effort-related rhabdomyolysis. Initial therapy was based on steroids, albumin, and high molecular weight plasma expanders (hydroxyethyl starch). Because of high hematocrit, phlebotomy was also performed. The patient had complete clinical remission and a diagnosis of SCLS was finally made. He received prophylactic therapy with verapamil and theophylline that was self-stopped for intolerance (hypotension and tachycardia). He had a new crisis 2 days after a physical effort, and was admitted in intensive care unit. The patient died for severe hypovolemic shock with multiorgan failure and sudden cardiac arrest 15 hours after hospital admission. Postmortem investigation revealed massive interstitial edema of main organs with myocardial hyperacute ischemia. Studies on SCLS are limited for the rarity of the disease and its unpredictable course. Both prophylactic and acute crisis treatments are empirical and optimal management of severe attacks is still lacking. PMID:25738482

  6. 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

  7. Mutations, Clinical Findings and Survival Estimates in South American Patients with X-Linked Adrenoleukodystrophy

    PubMed Central

    Pereira, Fernanda dos Santos; Matte, Ursula; Habekost, Clarissa Troller; de Castilhos, Raphael Machado; El Husny, Antonette Souto; Lourenço, Charles Marques; Vianna-Morgante, Angela M.; Giuliani, Liane; Galera, Marcial Francis; Honjo, Rachel; Kim, Chong Ae; Politei, Juan; Vargas, Carmen Regla; Jardim, Laura Bannach

    2012-01-01

    In this study, we analyzed the ABCD1 gene in X-linked adrenoleukodystrophy (X-ALD) patients and relatives from 38 unrelated families from South America, as well as phenotypic proportions, survival estimates, and the potential effect of geographical origin in clinical characteristics. Methods X- ALD patients from Brazil, Argentina and Uruguay were invited to participate in molecular studies to determine their genetic status, characterize the mutations and improve the genetic counseling of their families. All samples were screened by SSCP analysis of PCR fragments, followed by automated DNA sequencing to establish the specific mutation in each family. Age at onset and at death, male phenotypes, genetic status of women, and the effect of family and of latitude of origin were also studied. Results We identified thirty-six different mutations (twelve novel). This population had an important allelic heterogeneity, as only p.Arg518Gln was repeatedly found (three families). Four cases carried de novo mutations. Intra-familiar phenotype variability was observed in all families. Out of 87 affected males identified, 65% had the cerebral phenotype (CALD). The mean (95% CI) ages at onset and at death of the CALD were 10.9 (9.1–12.7) and 24.7 (19.8–29.6) years. No association was found between phenotypic manifestations and latitude of origin. One index-case was a girl with CALD who carried an ABCD1 mutation, and had completely skewed X inactivation. Conclusions This study extends the spectrum of mutations in X-ALD, confirms the high rates of de novo mutations and the absence of common mutations, and suggests a possible high frequency of cerebral forms in our population. PMID:22479560

  8. Clinical and pathological findings of a fatal systemic capillary leak syndrome (Clarkson disease): a case report.

    PubMed

    Zancanaro, Andrea; Serafini, Francesco; Fantin, Giuseppe; Murer, Bruno; Cicardi, Marco; Bonanni, Luca; Dalla Vestra, Michele; Scanferlato, Mauro; Mazzanti, Giovanni; Presotto, Fabio

    2015-03-01

    Systemic capillary leak syndrome (SCLS) is a rare disorder with episodes of hypotension, hypoalbuminemia, and hemoconcentration. During attacks endothelial hyperpermeability results in leakage of plasma proteins into the interstitial space. Attacks vary in severity and may be lethal.A 49-year-old previously healthy man was admitted to hospital for hypovolemic shock, anasarca with pleuropericardial effusion, muscle fatigue, and oliguria occurring after a flu-like syndrome. Laboratory data showed an increase in hematocrit (65%), leucocytes (24.590 μ/L), creatinine (2.5 mg/dL), creatine phosphokinase (10.000 U/L), and a decrease in serum albumin (17 g/L) without proteinuria. Immunoglobulins of class G/λ monoclonal gammopathy were detected (1.3 g/L). The initial suspicions addressed to a protein-loosing syndrome or to an effort-related rhabdomyolysis. Initial therapy was based on steroids, albumin, and high molecular weight plasma expanders (hydroxyethyl starch). Because of high hematocrit, phlebotomy was also performed. The patient had complete clinical remission and a diagnosis of SCLS was finally made. He received prophylactic therapy with verapamil and theophylline that was self-stopped for intolerance (hypotension and tachycardia). He had a new crisis 2 days after a physical effort, and was admitted in intensive care unit. The patient died for severe hypovolemic shock with multiorgan failure and sudden cardiac arrest 15 hours after hospital admission. Postmortem investigation revealed massive interstitial edema of main organs with myocardial hyperacute ischemia.Studies on SCLS are limited for the rarity of the disease and its unpredictable course. Both prophylactic and acute crisis treatments are empirical and optimal management of severe attacks is still lacking.

  9. Autonomy, religion and clinical decisions: findings from a national physician survey

    PubMed Central

    Lawrence, R E; Curlin, F A

    2010-01-01

    Background Patient autonomy has been promoted as the most important principle to guide difficult clinical decisions. To examine whether practising physicians indeed value patient autonomy above other considerations, physicians were asked to weight patient autonomy against three other criteria that often influence doctors’ decisions. Associations between physicians’ religious characteristics and their weighting of the criteria were also examined. Methods Mailed survey in 2007 of a stratified random sample of 1000 US primary care physicians, selected from the American Medical Association masterfile. Physicians were asked how much weight should be given to the following: (1) the patient’s expressed wishes and values, (2) the physician’s own judgment about what is in the patient’s best interest, (3) standards and recommendations from professional medical bodies and (4) moral guidelines from religious traditions. Results Response rate 51% (446/879). Half of physicians (55%) gave the patient’s expressed wishes and values “the highest possible weight”. In comparative analysis, 40% gave patient wishes more weight than the other three factors, and 13% ranked patient wishes behind some other factor. Religious doctors tended to give less weight to the patient’s expressed wishes. For example, 47% of doctors with high intrinsic religious motivation gave patient wishes the “highest possible weight”, versus 67% of those with low (OR 0.5; 95% CI 0.3 to 0.8). Conclusions Doctors believe patient wishes and values are important, but other considerations are often equally or more important. This suggests that patient autonomy does not guide physicians’ decisions as much as is often recommended in the ethics literature. PMID:19332575

  10. Clinical Audit of Women with Substance Use Disorders: Findings and Implications

    PubMed Central

    Malik, Kanika; Benegal, Vivek; Murthy, Pratima; Chand, Prabhat; Arun, K.; Suman, L. N.

    2015-01-01

    Aim: To examine the socio-demographic, clinical and psychosocial profiles of women seeking treatment for substance use disorders (SUDs) in order to understand their treatment needs. Materials and Methods: The psychiatric case records of 40 women with SUDs who sought consultation between the year 2012 and 2013 were analysed. Results: The mean age of the sample was 38 years (standard deviation, S.D = ± 7.24). Among these, 52.5% were married and 30% were separated or divorced. Mean age of onset of substance dependence was 28.68 years (S.D. = ± 7.02) with an average of 9.65 years (S.D = ± 7.69) of dependence. Alcohol dependence was present in 80% of the patients, followed by nicotine dependence in 54% of the patients. Co-morbid Axis I and Axis II disorders were present in 62.5% and 10% of the patients respectively. Childhood adverse experiences such as abuse and neglect were reported by 20% of the patients. The factors contributing to initiation and maintenance of substance use were marital discord and interpersonal conflicts (70%), influence of significant others (66%), death of a family members (10%) and other stressful life events (25%). Major consequences of substance use were substance-induced physical problems (62.5%) and interpersonal conflicts (40%). Data analysis indicated poor follow up and relapse rate of 50%. Conclusions: Adverse life events and interpersonal conflicts are significant contributing factors to substance use among women. The study has implications for planning gender sensitive, multi-dimensional treatment programmes for women seeking treatment for SUDs in India. PMID:25969606

  11. Clinical, ultrasonographic, and pathologic findings in 70 camels (Camelus dromedarius) with Johne’s disease

    PubMed Central

    Tharwat, Mohamed; Al-Sobayil, Fahd; Ali, Ahmed; Hashad, Mahmoud; Buczinski, Sébastien

    2012-01-01

    This study evaluated the use of ultrasonography for the diagnosis of Johne’s disease in camels (Camelus dromedarius). Seventy camels with confirmed Johne’s disease were examined by ultrasonography and subsequent necropsy; 15 healthy camels were included as controls. The most outstanding findings were visible enlargement of the mesenteric lymph nodes in 52 (74%) camels. Lesions had either echogenic (26%; n = 18) or anechoic (69%; n = 48) capsule and the contents were either anechoic (21%; n = 15), echogenic (27%; n = 19), or heterogeneous (46%; n = 32). Clumps of echogenic tissue interspersed with fluid pockets were imaged between the intestinal loops in 9 (13%) camels. There was mild, moderate, or severe thickening and corrugation of the intestinal wall, excessive anechoic fluid in the abdominal cavity in 18 (26%) camels, increased hepatic brightness in 30 (43%) camels, and pericardial and pleural effusions in 22 (31%) camels. Sensitivity values for detecting intestinal lesions and enlarged mesenteric lymph nodes were 95% and 84%, respectively. PMID:23115369

  12. Antihypertensive therapy in African Americans: findings from an inner-city ambulatory clinic.

    PubMed

    Odigie-Okon, Esosa; Zarich, Stuart; Okon, Emmanuel; Dufresne, Alix

    2010-03-01

    African Americans bear a greater burden of hypertension. Understanding prevailing epidemiologic patterns can facilitate the implementation and successful outcome of community programs. The authors assessed practice patterns of antihypertensive drug utilization and blood pressure (BP) control in a predominantly African American population in Brooklyn, NY, from January 1 to January 31, 2008. A total of 416 (53.1%) had hypertension, with a mean age of 61 years, and 267 (64%) were women. In general, 212 (50.9%) were at goal BP and 59.9% of those at goal were taking at least 2 drugs. Patient age correlated with the number of drugs used (r=0.14; P=.004). Patients taking beta-blockers and calcium channel blockers were older: 63.6 vs 60.1 years (P=.01) and 62.7 vs 60.3 years (P=.07), respectively. The pattern of antihypertensive use was as follows: angiotensin-converting enzyme inhibitors, 194 (46.6%); calcium channel blockers, 162 (38.9%); diuretics, 162 (38.9%); beta-blockers, 133(32%); and angiotensin receptor blockers, 93 (22.4%). The findings of age associated with the class of medications used and a predominance of angiotensin-converting enzyme inhibitors usage highlight possible gaps in appropriateness of antihypertensive therapy. The application of age-appropriate race-based antihypertensive therapy might improve BP control rates. These results strengthen arguments for investing in community-based programs to overcome possible provider-related and local health system barriers to achieving BP control goals.

  13. Preliminary clinical findings on NEUMUNE as a potential treatment for acute radiation syndrome.

    PubMed

    Stickney, Dwight R; Groothuis, Jessie R; Ahlem, Clarence; Kennedy, Mike; Miller, Barry S; Onizuka-Handa, Nanette; Schlangen, Karen M; Destiche, Daniel; Reading, Chris; Garsd, Armando; Frincke, James M

    2010-12-01

    5-androstenediol (5-AED) has been advanced as a possible countermeasure for treating the haematological component of acute radiation syndrome (ARS). It has been used in animal models to stimulate both innate and adaptive immunity and treat infection and radiation-induced immune suppression. We here report on the safety, tolerability and haematologic activity of 5-AED in four double-blinded, randomized, placebo-controlled studies on healthy adults including elderly subjects. A 5-AED injectable suspension formulation (NEUMUNE) or placebo was administered intramuscularly as either a single injection, or once daily for five consecutive days at doses of 50, 100, 200 or 400 mg. Subjects (n = 129) were randomized to receive NEUMUNE (n = 95) or the placebo (n = 34). NEUMUNE was generally well-tolerated; the most frequent adverse events were local injection site reactions (n = 104, 81%) that were transient, dose-volume dependent, mild to moderate in severity, and that resolved over the course of the study. Blood chemistries revealed a transient increase (up to 28%) in creatine phosphokinase and C-reactive protein levels consistent with intramuscular injection and injection site irritation. The blood concentration profile of 5-AED is consistent with a depot formulation that increases in disproportionate increments following each dose. NEUMUNE significantly increased circulating neutrophils (p < 0.001) and platelets (p < 0.001) in the peripheral blood of adult and elderly subjects. A dose-response relationship was identified. Findings suggest that parenteral administration of 5-AED in aqueous suspension may be a safe and effective means to stimulate innate immunity and alleviate neutropenia and thrombocytopenia associated with ARS.

  14. Female genital schistosomiasis due to Schistosoma haematobium. Clinical and parasitological findings in women in rural Malawi.

    PubMed

    Kjetland, E F; Poggensee, G; Helling-Giese, G; Richter, J; Sjaastad, A; Chitsulo, L; Kumwenda, N; Gundersen, S G; Krantz, I; Feldmeier, H

    1996-12-30

    A total of 51 women with urinary schistosomiasis haematobium were examined in order to identify diagnostic indicators for female genital schistosomiasis (FGS). Patients were selected at random from the outpatient department of the Mangochi District Hospital, Malawi. The medical histories were recorded according to a pre-designed questionnaire and the women were subjected to a thorough gynaecological examination including colposcopy and photographic documentation of lesions. Microscopy of genital biopsies revealed that 33 of the 51 women had S. haematobium ova in cervix, vagina and/or vulva in addition to the presence of ova in urine. The most sensitive diagnostic procedure was beside microscopic examination of a wet cervix biopsy crushed between two glass slides, which revealed 25 of the 33 genital infections. There was a significant correlation between the size of genital lesions and the number of ova counted per mm2 of crushed tissue. Women with FGS had significantly more tumours in the vulva than women with schistosomiasis limited to the urinary tract. Most of the observed genital pathology could easily be identified by the naked eye, but colposcopic examination yielded valuable additional information like the demonstration of neovascularisation around cervical sandy patches. Few of the symptoms previously regarded as indicators for FGS could be linked to the presence of schistosome ova in genital tissue. Husbands of infertile women with FGS had children with other women significantly more often than husbands of women who only had urinary schistosomiasis. This, together with the finding that the majority of the divorced women had FGS, indicates that the manifestation of this disease may have implications for the marital and sexual life of the affected women.

  15. 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

  16. Oestrogen receptor-alpha and -beta expression in breast implant capsules: experimental findings and clinical correlates.

    PubMed

    Persichetti, Paolo; Segreto, Francesco; Carotti, Simone; Marangi, Giovanni Francesco; Tosi, Daniele; Morini, Sergio

    2014-03-01

    Myofibroblasts provide a force to decrease the surface area of breast implant capsules as the collagen matrix matures. 17-β-Oestradiol promotes myofibroblast differentiation and contraction. The aim of the study was to investigate the expression of oestrogen receptors α and β in capsular tissue. The study enrolled 70 women (80 capsules) who underwent expander or implant removal, following breast reconstruction. Specimens were stained with haematoxylin/eosin, Masson trichrome and immunohistochemistry and immunofluorescence stainings for alpha-smooth muscle actin (α-SMA), oestrogen receptor-alpha (ER-α) and oestrogen receptor-beta (ER-β). The relationship between anti-oestrogenic therapy and capsular severity was evaluated. A retrospective analysis of 233 cases of breast reconstruction was conducted. Myofibroblasts expressed ER-α, ER-β or both. In the whole sample, α-SMA score positively correlated with ER-α (p = 0.022) and ER-β expression (p < 0.004). ER-β expression negatively correlated with capsular thickness (p < 0.019). In capsules surrounding expanders α-SMA and ER-α, expressions negatively correlated with time from implantation (p = 0.002 and p = 0.016, respectively). The incidence of grade III-IV contracture was higher in patients who did not have anti-oestrogenic therapy (p < 0.036); retrospective analysis of 233 cases confirmed this finding (p < 0.0001). This study demonstrates the expression of oestrogen receptors in myofibroblasts of capsular tissue. A lower contracture severity was found in patients who underwent anti-oestrogenic therapy.

  17. A bioactive dental luting cement--its retentive properties and 3-year clinical findings.

    PubMed

    Jefferies, Steven R; Pameijer, Cornelis H; Appleby, David C; Boston, Daniel; Lööf, Jesper

    2013-02-01

    A clinical validation study was conducted to determine the performance of a new bioactive dental cement (Ceramir C&B, Doxa Dental AB) for permanent cementation. The cement is a new formulation class, which is a hybrid material comprised of calcium aluminate and glass-ionomer components. A total of 38 crowns and bridges were cemented in 17 patients; 31 of the abutment teeth were vital and seven were non-vital. Six restorations were bridges with a total of 14 abutment teeth (12 vital/ two non-vital). One fixed splint comprising two abutment teeth was also included. Preparation parameters were recorded, as well as cement characteristics such as working time, setting time, seating characteristics, and ease of cement removal. Baseline data were recorded for the handling of the cement, gingival inflammation, and pre-cementation sensitivity. Post-cementation parameters included post-cementation sensitivity, gingival tissue reaction, marginal integrity, and discoloration. All patients were seen for recall examinations at 30 days and 6 months. Fifteen of 17 subjects and 13 of 17 patients were also available for subsequent comprehensive 1- and 2-year recall examination, and 13 patients were available for a 3-year recall examination. Restorations available for the 3-year recall examination included 14 single-unit full-coverage crown restorations, four three-unit bridges comprising eight abutments, and one two-unit splint. Three-year recall data yielded no loss of retention, no secondary caries, no marginal discolorations, and no subjective sensitivity. All restorations rated excellent for marginal integrity. Average visual analogue scale (VAS) score for tooth sensitivity decreased from 7.63 mm at baseline to 0.44 mm at 6-month recall, 0.20 mm at 1-year recall, and 0.00 mm at 2- and 3-year recall. Average gingival index (GI) score for gingival inflammation decreased from 0.56 at baseline to 0.11 at 6-month recall, 0.16 at 1-year recall, 0.21 at 2-year recall, and 0.07 at 3

  18. Clinical and echocardiographic findings of patients with suspected acute pulmonary thromboembolism who underwent computed tomography pulmonary angiography

    PubMed Central

    Adibi, Atoosa; Nouri, Shadi; Moradi, Maryam; Shahabi, Javad

    2016-01-01

    Background: The aim of the study was to determine the correlation between clinical and echocardiographic findings and risk factors of patients with suspected acute pulmonary thromboembolism (PTE) who underwent computed tomography pulmonary angiography (CTPA). Materials and Methods: In this cross-sectional study, 310 hospitalized patients aged >18 years with high clinical suspicion of PTE referred to imaging center of our hospital from different wards for CTPA were enrolled. The frequency of different clinical presentations, risk factors, items of Wells’ criteria, and echocardiographic findings was compared in patients with and without PTE, which have been diagnosed according to the CTPA results. Results: PTE was diagnosed in 53 (17.1%) of patients with suspected PTE. From clinical manifestations, tachypnea, pleuritic chest pain, and edema of lower extremities were significantly more frequent among patients with PTE (P < 0.05). Major surgery was the risk factor which was significantly more prevalent among patients with PTE (P < 0.05). Frequency of all criteria of Wells’ criteria, except hemoptysis, was significantly higher in patients with PTE (P < 0.05). The frequency of all studied echocardiographic variables was significantly higher in patients with PTE (P < 0.05). Conclusion: It is suggested that we could use the results of this study for utilizing the diagnostic process of PTE in patients with highly clinical suspicion of PTE and providing more validated decision. Using the results of this study, we could identify high-risk patients and made appropriate risk assessment for better management of patients with suspected PTE as well as reduce the rate of unnecessary CTPA and its related adverse consequences.

  19. Detection of left ventricular hypertrophy by different electrocardiographic criteria in clinical practice. Findings from the Sara study.

    PubMed

    Calderón, Alberto; Barrios, Vivencio; Escobar, Carlos; Ferrer, Elena; Barrios, Sara; González-Pedel, Victoria; Montoro, Paloma; Navarro-Cid, Josefa

    2010-05-01

    The objective of this study is to compare the validity of different product duration-based electrocardiographic criteria with the classical voltage criteria and to estimate the prevalence of left ventricular hypertrophy (LVH) for each criterion. Electro cardiographic criteria from 248 hypertensive patients attended in daily clinical practice were examined. Cornell and Sokolow-Lyon voltage indexes, Cornell and Sokolow-Lyon products, and Cornell and Sokolow-Lyon areas were determined. The presence of echocardiographic LVH was documented from the patients' clinical records. The proportion of patients with LVH detected by Cornell product was 27.3% vs. 12.9% by Cornell voltage, and 23.6% by Sokolow-Lyon product vs. 12.0% by Sokolow voltage. Both were p < 0.05. When QRS area criteria were applied, ECG-LVH was present in 32.7% (Cornell area) and 29.5% (Sokolow area) of the patients, respectively. When the composite of several criteria was applied, the detection of LVH with the combination of the Cornell product and the Sokolow-Lyon voltage index increased to 33% and with the combination of Cornell and Sokolow-Lyon products reached 39.3%. Globally, the patients diagnosed by voltage criteria were older, had higher systolic blood pressure (SBP) and a longer history of hypertension when compared to subjects diagnosed by product or area-based criteria. The Cornell and Sokolow-Lyon product and the QRS area-based criteria improve the detection of ECG-LVH in the hypertensive population. The composite of different criteria may be a useful strategy to further increase the diagnostic ability of ECG. The combinations of the Cornell product with the Sokolow voltage or with the Sokolow product appear to be the most efficient options.

  20. Pre-Clinical Evaluation of a Real-Time PCR Assay on a Portable Instrument as a Possible Field Diagnostic Tool: Experiences from the Testing of Clinical Samples for African and Classical Swine Fever Viruses.

    PubMed

    Liu, L; Luo, Y; Accensi, F; Ganges, L; Rodríguez, F; Shan, H; Ståhl, K; Qiu, H-J; Belák, S

    2016-06-16

    African swine fever (ASF) and classical swine fever (CSF) are two highly infectious transboundary animal diseases (TADs) that are serious threats to the pig industry worldwide, including in China, the world's largest pork producer. In this study, a duplex real-time PCR assay was developed for the rapid detection and differentiation of African swine fever virus (ASFV) and classical swine fever virus (CSFV). The assay was performed on a portable, battery-powered PCR thermocycler with a low sample throughput (termed as 'T-COR4 assay'). The feasibility and reliability of the T-COR4 assay as a possible field method was investigated by testing clinical samples collected in China. When evaluated with reference materials or samples from experimental infections, the assay performed in a reliable manner, producing results comparable to those obtained from stationary PCR platforms. Of 59 clinical samples, 41 had results identical to a two-step CSFV real-time PCR assay. No ASFV was detected in these samples. The T-COR4 assay was technically easy to perform and produced results within 3 h, including sample preparation. In combination with a simple sample preparation method, the T-COR4 assay provides a new tool for the field diagnosis and differentiation of ASF and CSF, which could be of particular value in remote areas.

  1. Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11.

    PubMed

    Goldenberg, Alice; Riccardi, Florence; Tessier, Aude; Pfundt, Rolph; Busa, Tiffany; Cacciagli, Pierre; Capri, Yline; Coutton, Charles; Delahaye-Duriez, Andree; Frebourg, Thierry; Gatinois, Vincent; Guerrot, Anne-Marie; Genevieve, David; Lecoquierre, Francois; Jacquette, Aurélia; Khau Van Kien, Philippe; Leheup, Bruno; Marlin, Sandrine; Verloes, Alain; Michaud, Vincent; Nadeau, Gwenael; Mignot, Cyril; Parent, Philippe; Rossi, Massimiliano; Toutain, Annick; Schaefer, Elise; Thauvin-Robinet, Christel; Van Maldergem, Lionel; Thevenon, Julien; Satre, Véronique; Perrin, Laurence; Vincent-Delorme, Catherine; Sorlin, Arthur; Missirian, Chantal; Villard, Laurent; Mancini, Julien; Saugier-Veber, Pascale; Philip, Nicole

    2016-11-01

    KBG syndrome, due to ANKRD11 alteration is characterized by developmental delay, short stature, dysmorphic facial features, and skeletal anomalies. We report a clinical and molecular study of 39 patients affected by KBG syndrome. Among them, 19 were diagnosed after the detection of a 16q24.3 deletion encompassing the ANKRD11 gene by array CGH. In the 20 remaining patients, the clinical suspicion was confirmed by the identification of an ANKRD11 mutation by direct sequencing. We present arguments to modulate the previously reported diagnostic criteria. Macrodontia should no longer be considered a mandatory feature. KBG syndrome is compatible with autonomous life in adulthood. Autism is less frequent than previously reported. We also describe new clinical findings with a potential impact on the follow-up of patients, such as precocious puberty and a case of malignancy. Most deletions remove the 5'end or the entire coding region but never extend toward 16q telomere suggesting that distal 16q deletion could be lethal. Although ANKRD11 appears to be a major gene associated with intellectual disability, KBG syndrome remains under-diagnosed. NGS-based approaches for sequencing will improve the detection of point mutations in this gene. Broad knowledge of the clinical phenotype is essential for a correct interpretation of the molecular results. © 2016 Wiley Periodicals, Inc.

  2. Effect of socio-demographic characteristics and clinical findings on the quality of life of patients with chronic venous insufficiency.

    PubMed

    Soydan, Ebru; Yılmaz, Emel; Baydur, Hakan

    2016-01-01

    Objective This study was planned and implemented to evaluate the effect of socio-demographic characteristics and clinical findings on the quality of life of patients with chronic venous insufficiency. Methods The sample of this cross-sectional study consisted of 163 patients that presented with the diagnosis of chronic venous insufficiency to the cardiovascular surgery clinic of an education and research hospital in the west of Turkey. The data were collected during face-to-face interviews using a personal information form, clinical, etiology, anatomy, pathophysiology classification, venous insufficiency epidemiological and economic study-quality of life/symptoms scales and the Short Form-36. Descriptive statistics as well as univariate and multivariate analyses were used to analyze the data. Results The chronic venous insufficiency patients were found to have a low quality of life. Advanced age, higher body mass index, longer working times, being on regular medication, hypertension and presence of pigmentation according to the clinical, etiology, anatomy, pathophysiology classification were found to be associated with a reduced physical score in SF-36. Furthermore, longer weekly working hours and presence of pigmentation reduced the Venous Insufficiency Epidemiological and Economic Study-Quality of Life/Symptoms scores. Undertaking physical exercise at twice and more than twice a week increased the overall physical scores in SF-36. Conclusions The results of the study showed that the quality of life of chronic venous insufficiency patients are affected by not only physical characteristics, working hours and physical activity but also presence of edema and pigmentation.

  3. 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

    2016-01-01

    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).

  4. 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

  5. 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

  6. How do etiological factors can explain the different clinical features of patients with differentiated thyroid cancer and their histopathological findings?

    PubMed

    Pagano, Loredana; Mele, Chiara; Arpaia, Debora; Samà, Maria Teresa; Caputo, Marina; Ippolito, Serena; Peirce, Carmela; Prodam, Flavia; Valente, Guido; Ciancia, Giuseppe; Aimaretti, Gianluca; Biondi, Bernadette

    2017-04-01

    The aim was to retrospectively analyse the clinical-histopathological characteristics of patients with newly diagnosis of differentiated thyroid cancer (DTC) referred to two Italian centres, one in Northern and the other in Southern Italy, between 2000 and 2013. 1081 patients were included and subdivided into two groups: group A (474 patients from Novara) and group B (607 patients from Naples). The group A came from the industrial area of Novara, while the Group B came from the areas around Vesuvius and Campi Flegrei. The two groups were comparable for iodine levels, body mass index, diagnostic timing and clinical procedures. For all patients, demographic and clinical data were collected. No difference was found in gender, whereas the age at diagnosis was later in the group A (group A 53.1 ± 15.16 years, group B 41.9 ± 14.25 years, p < 0.001). In both groups, the most frequent histotype was papillary thyroid cancer (PTC) with prevalence of follicular variant in group A (p < 0.0001) and classical variant in group B (p < 0.0001). Aggressive histological features were mainly seen in group A (bilaterality p < 0.0001, multifocality p < 0.0001 and thyroid capsular invasion p < 0.0001). Microcarcinomas were more frequent in group A (p < 0.0001) but mostly characterized by bilaterality (p < 0.001) and multifocality (p < 0.04). In both groups, tumour-associated thyroiditis showed a significant increase over the years (group A p < 0.05, group B p < 0.04). Environmental factors could justify the differences found in our study. These preliminary data should stimulate the need for an Italian Cancer Registry of DTC in order to allow an epidemiological characterization, allowing the identification of specific etiological factors and an improvement in the management of the disease.

  7. The findings of the Dartmouth Atlas Project: a challenge to clinical and ethical excellence in end-of-life care.

    PubMed

    Mitchell, John J

    2011-01-01

    The Dartmouth Institute for Health Policy and Clinical Practice Atlas Project found "staggering variations" in the quality and quantity of end-of-life care provided to Medicare patients with severe chronic illness across the United States. Particularly concerning is the finding that more care is provided to patients who live in "high-supply" areas, irrespective of the effectiveness of care, and that more care often equaled inappropriate care that increased patients' suffering at the end of life. Patients in "lower supply" areas typically received better, more appropriate levels of care and reported higher levels of satisfaction with the care they received.

  8. Finding the voice of clinical experience: participatory action research with registered nurses in developing a child critical care nursing curriculum.

    PubMed

    Coetzee, Minette; Britton, Margretta; Clow, Sheila E

    2005-04-01

    The voice of clinical nurses is important to find and hear in the design of curricula. A participative action research project proposed to add this voice to the design of a new Critical Care Child Nursing programme at the University of Cape Town (UCT). Nurses' experiences of nursing critically ill children and their perceived learning needs in this context, were the central focus of the study. Participants were registered nurses working in the paediatric intensive care unit at the Red Cross Children's Hospital (a specialist hospital), which offers secondary and tertiary care in the Cape Town region and beyond. Data were gathered in five focussed group discussions. Findings indicate that the Critical Care Child Nurse needs not only a specialised knowledge base and acutely developed assessment skills, but also astute interpersonal skills. The nurse's professional identity and integration into the multidisciplinary team need exploring. Together with the development of interpersonal skills, the nurse needs to engage the child and family.

  9. Find a Free Clinic

    MedlinePlus

    ... United States Pennsylvania United States Sunbury 17801-3404 Monday: 8:30am-4pm, Tuesday: 8:30am-4pm, Wednesday: ... States North Carolina United States Asheville 28801-4351 Monday: 9am-9pm Tuesday: 9am-9pm Wednesday: 9am-2pm ...

  10. [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.

  11. Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: description of 12 patients.

    PubMed

    Mäkitie, Outi; Mortier, Geert R; Czarny-Ratajczak, Malwina; Wright, Michael J; Suri, Mohnish; Rogala, Piotr; Freund, Margarida; Jackson, Gail C; Jakkula, Eveliina; Ala-Kokko, Leena; Briggs, Michael D; Cole, William G

    2004-03-15

    Multiple epiphyseal dysplasia (MED) is characterized by pain and stiffness in joints and delayed and irregular ossification of epiphyses. Causative mutations have been recognized in six different genes. We have identified disease-causing mutations in the gene encoding matrilin-3, an extracellular matrix protein, in seven families with autosomal dominant MED. Review of the clinical and radiographic features in 12 of the affected family members shows a uniform pattern of skeletal anomalies in all patients with considerable degree of variability in severity, both between and within families. The characteristic clinical findings are onset of symptoms in early childhood with predominance of knee and hip related complaints, normal stature, and early-onset osteoarthritis. Radiographs show small and irregular epiphyses and mild metaphyseal irregularities and striations, especially at the knees and hips and mild spinal changes. Despite overlap, both clinically and radiographically, with other forms of MED, the described features may help to differentiate this particular form from other entities within the MED spectrum.

  12. Clinical, neurophysiological, and skin biopsy findings in peripheral neuropathy associated with hepatitis C virus-related cryoglobulinemia.

    PubMed

    Biasiotta, A; Casato, M; La Cesa, S; Colantuono, S; Di Stefano, G; Leone, C; Carlesimo, M; Piroso, S; Cruccu, G; Truini, A

    2014-04-01

    Hepatitis C virus (HCV)-related cryoglobulinemia commonly causes disabling complications including peripheral neuropathy and neuropathic pain. In this prospective clinical, neurophysiological, and skin biopsy study we aimed at assessing clinical characteristics and risk factors of peripheral neuropathy and neuropathic pain in patients with HCV-related cryoglobulinemia. We enrolled 69 consecutive patients with HCV-related cryoglobulinemia. We diagnosed neuropathic pain with the DN4 (Neuropathic Pain Diagnostic) questionnaire, and rated the various neuropathic pains with the Neuropathic Pain Symptom Inventory (NPSI). All patients underwent a standard nerve conduction study to assess Aβ-fiber function, laser-evoked potentials to assess Aδ-fiber function, and skin biopsy to assess C-fiber terminals. Of the 69 patients studied, 47 had a peripheral neuropathy, and 29 had neuropathic pain. Patients with peripheral neuropathy were older than those without (P < 0.0001). While peripheral neuropathy was significantly associated with the duration of HCV infection (P < 0.01), it was unrelated to the duration of cryoglobulinemia and cryocrit (P > 0.5). The severity of peripheral neuropathy significantly correlated with the duration of HCV infection (P < 0.05). Laser-evoked potential amplitudes were significantly lower in patients with than in those without neuropathic pain (P < 0.05). Conversely, no difference was found in nerve conduction study and skin biopsy findings (P > 0.05). Our findings show that peripheral neuropathy is related to age and HCV infection, rather than to cryoglobulinemia, and neuropathic pain is associated with damage to nociceptive pathways as assessed with laser-evoked potentials; this might be useful for designing more effective clinical interventions for these common HCV related-cryoglobulinemia complications.

  13. Hyperintense vessels on acute stroke Fluid-attenuated Inversion Recovery imaging: Associations with clinical and other MRI findings

    PubMed Central

    Cheng, Bastian; Ebinger, Martin; Kufner, Anna; Köhrmann, Martin; Wu, Ona; Kang, Dong-Wha; Liebeskind, David; Tourdias, Thomas; Singer, Oliver C.; Christensen, Soren; Warach, Steve; Luby, Marie; Fiebach, Jochen B.; Fiehler, Jens; Gerloff, Christian; Thomalla, Götz

    2012-01-01

    Background and Purpose Hyperintense vessels (HV) have been observed in Fluid-Attenuated Inversion Recovery (FLAIR) imaging of patients with acute ischemic stroke and been linked to slow flow in collateral arterial circulation. Given the potential importance of HV, we used a large, multicentre dataset of stroke patients to clarify which clinical and imaging factors play a role in HV. Methods We analyzed data of 516 patients from the previously published PRE-FLAIR study. Patients were studied by MRI within 12 hours of symptom onset. HV were defined as hyperintensities in FLAIR corresponding to the typical course of a blood vessel that was not considered the proximal, occluded main artery ipsilateral to the diffusion restriction. Presence of HV was rated by two observers and related to clinical and imaging findings. Results Presence of HV was identified in 240 of all 516 patients (47%). Patients with HV showed larger initial ischemic lesion volumes (median 12.3 vs. 4.9 ml; p<0.001) and a more severe clinical impairment (median NIHSS 10.5 vs. 6; p<0.001). In 198 patients with MR-angiography, HV were found in 80% of patients with vessel occlusion and in 17% without vessel occlusion. In a multivariable logistic regression model, vessel occlusion was associated with HV (OR 21.7%; 95% CI 9.6–49.9, p < 0.001). HV detected vessel occlusion with a specificity of 0.86 (95% CI 0.80–0.90) and sensitivity of 0.76 (95% CI 0.69–0.83). Conclusions HV are a common finding associated with proximal arterial occlusions and more severe strokes. HV predict arterial occlusion with high diagnostic accuracy. PMID:22933582

  14. Presumptive acute non-compressive nucleus pulposus extrusion in 11 cats: clinical features, diagnostic imaging findings, treatment and outcome.

    PubMed

    Taylor-Brown, Frances E; De Decker, Steven

    2017-01-01

    Objectives The aim of the study was to describe the clinical features, diagnostic imaging findings, treatment and outcome in cats diagnosed with presumptive acute non-compressive nucleus pulposus extrusion. Methods Medical records and imaging studies of cats diagnosed with presumptive acute non-compressive nucleus pulposus extrusion were retrospectively reviewed. Information on long-term outcome was acquired from patient records and from either owners or referring veterinary surgeons via a telephone questionnaire. Results Eleven cats met the inclusion criteria. All cats had a peracute onset of clinical signs, with eight cats experiencing witnessed (n = 6) or suspected (n = 2) external trauma based on imaging findings. Neuroanatomical localisation included C1-C5 (n = 1), T3-L3 (n = 7) and L4-S3 (n = 3) spinal cord segments. MRI revealed acute non-compressive nucleus pulposus extrusions located at C3-C4 (n = 1), T12-T13 (n = 1), T13-L1 (n = 1), L1-L2 (n = 1), L3-L4 (n = 3), L4-L5 (n = 1) and L5-L6 intervertebral disc spaces (n = 3). Treatment included supportive care and 10 cats were discharged with a median hospitalisation time of 10 days (range 3-26 days). One cat was euthanased during hospitalisation owing to complications unrelated to neurological disease. All cats that presented as non-ambulatory regained an ambulatory status with the median time to ambulation of 17 days (range 6-21 days). Overall, the outcome for cats diagnosed with acute non-compressive nucleus pulposus extrusion was successful, with almost 90% returning to ambulation with urinary and faecal continence. Conclusions and relevance The majority of cats diagnosed with acute non-compressive nucleus pulposus extrusion had good outcomes. Acute non-compressive nucleus pulposus extrusion should be considered as a differential diagnosis for cats presenting with peracute onset of spinal cord dysfunction, particularly if there is a clinical history or evidence of trauma.

  15. 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.

  16. 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.

  17. Clinical Course and Changes in High-Resolution Computed Tomography Findings in Patients with Idiopathic Pulmonary Fibrosis without Honeycombing

    PubMed Central

    Bando, Masashi; Baba, Tomohisa; Kataoka, Kensuke; Yamada, Yoshihito; Yamamoto, Hiroshi; Miyamoto, Atsushi; Ikushima, Soichiro; Johkoh, Takeshi; Sakai, Fumikazu; Terasaki, Yasuhiro; Hebisawa, Akira; Kawabata, Yoshinori; Sugiyama, Yukihiko; Ogura, Takashi

    2016-01-01

    Some patients with idiopathic pulmonary fibrosis (IPF) do not have honeycombing on high-resolution computed tomography (HRCT) at their initial evaluation. The clinical course and sequential changes in HRCT findings in these patients are not fully understood. We reviewed the cases of 43 patients with IPF without honeycombing on initial HRCT from institutions throughout Japan. All patients were diagnosed with IPF based on a surgical lung biopsy. Multidisciplinary discussions were held five times between 2011 and 2014, to exclude alternative etiologies. We evaluated the sequential changes in HRCT findings in 30 patients with IPF. We classified these 30 patients into three groups based on their HRCT patterns and clarified the clinical characteristics and prognosis among the groups. The patterns of all 30 patients on initial HRCT corresponded to a possible usual interstitial pneumonia (UIP) pattern which was described in the 2011 International Statement. On long-term follow-up (71.0±38.7 standard deviation [SD] months), honeycombing was seen in 16 patients (53%, the HoneyCo group); traction bronchiectasis or cysts without honeycombing was observed in 12 patients (40%, the NoHoneyCo group), and two patients showed no interval change (7%, the NoChange group) on HRCT. The mean survival periods of the HoneyCo and NoHoneyCo groups were 67.1 and 61.2 months, respectively (p = 0.76). There are some patients with IPF whose conditions chronically progress without honeycombing on HRCT. The appearance of honeycombing on HRCT during the follow-up might not be related to prognosis. PMID:27829068

  18. Estrogen receptor alpha gene ( ESR1) polymorphism can contribute to clinical findings in systemic lupus erythematosus patients.

    PubMed

    Drehmer, M N; Andrade, D; Pereira, I A; Marrero, A R; Muniz, Y C N; de Souza, I R; Löfgren, S E

    2017-03-01

    Background Estrogens have a modulatory effect on several immune responses, many of which are correlated to autoimmune diseases. Estrogens act through binding to their receptors, and an overexpression of these receptors has been identified in patients with different autoimmune diseases. Here we analyzed the association of a putative functional genetic variant in the main estrogen receptor (ERα) gene ( ESR1), and the susceptibility to clinical findings and severity of SLE. Methods A total of 426 individuals (266 healthy controls and 160 SLE patients) were genotyped for the polymorphism rs2234693 in the ESR1 gene. Allele and genotype frequencies were calculated and analyzed between cases and controls using Unphased software. Results The SNP rs2234693 was not associated with SLE per se but the minor allele rs2234693-C was correlated with the presence of nephritis and discoid skin rash. On the other hand, the rs2234693-CC genotype was correlated with the absence of arthritis as well as anti-ANA and anti-RNP autoantibodies. The comprehensive clinical analysis of these patients revealed a more severe status of the disease, characterized by a younger age of onset and higher number of organs involved when compared to European populations. Conclusions Minor allele rs2234693-C was associated with renal and cutaneous involvement, as well as the absence of arthritis, anti-ANA and anti-RNP autoantibodies.

  19. Systemic Lupus Erythematosus and hearing disorders: Literature review and meta-analysis of clinical and temporal bone findings.

    PubMed

    Di Stadio, Arianna; Ralli, Massimo

    2017-01-01

    Objective This literature review and meta-analysis was performed to evaluate the correlations among hearing and vestibular clinical symptoms, temporal bone findings, and pathological mechanisms in patients with systemic lupus erythematosus (SLE). Study design Relevant papers in the literature were retrospectively reviewed. Clinical hearing aspects in patients with SLE and relevant temporal bone studies in the same field were analyzed. Methods PubMed and Google Scholar searches were performed using the following keywords: "auto-immune disease," "systemic lupus erythematosus (SLE)," "hearing loss," "temporal bone study," "vertigo," "dizziness," "tinnitus," "ear symptoms," "treatment," "diagnosis," "symptoms," "etiopathogenesis," "Wegener granulomatosis," "Sjogren," "polyarteritis nodosa," "Cogan syndrome," and "granulomatosis." Also included were reviews in which the following terms were present: "SLE," "temporal bone," and "hearing symptoms." Review and conclusion This literature review and meta-analysis focused on the pathological mechanisms through which SLE can damage inner ear structures and determinate hearing and vestibular symptoms. The main mechanisms involved in inner ear damage include the autoimmune response, deposition of immune complexes in the vessels and, to a lesser extent, cytotoxic damage.

  20. Comparison between Flail Arm Syndrome and Upper Limb Onset Amyotrophic Lateral Sclerosis: Clinical Features and Electromyographic Findings

    PubMed Central

    Yoon, Byung-Nam; Choi, Seong Hye; Rha, Joung-Ho; Kang, Sa-Yoon; Lee, Kwang-Woo

    2014-01-01

    Flail arm syndrome (FAS), an atypical presentation of amyotrophic lateral sclerosis (ALS), is characterized by progressive, predominantly proximal, weakness of upper limbs, without involvement of the lower limb, bulbar, or respiratory muscles. When encountering a patient who presents with this symptomatic profile, possible diagnoses include upper limb onset ALS (UL-ALS), and FAS. The lack of information regarding FAS may make differential diagnosis between FAS and UL-ALS difficult in clinical settings. The aim of this study was to compare clinical and electromyographic findings from patients diagnosed with FAS with those from patients diagnosed with UL-ALS. To accomplish this, 18 patients with FAS and 56 patients with UL-ALS were examined. Significant differences were observed between the 2 groups pertaining to the rate of fasciculation, patterns of predominantly affected muscles, and the Medical Research Council scale of the weakest muscle. The presence of upper motor neuron signs and lower motor neuron involvement evidenced through electromyography showed no significant between-group differences. PMID:25258573

  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. Childhood mitochondrial encephalomyopathies: clinical course, diagnosis, neuroimaging findings, mtDNA mutations and outcome in six children

    PubMed Central

    2013-01-01

    Mitochondrial dysfunction manifests in many forms during childhood. There is no effective therapy for the condition; hence symptomatic therapy is the only option. The effect of symptomatic therapy are not well known. We present clinical course, diagnosis and effect of current treatments for six children suffering from mitochondrial encephalomyopathy identified by clinical demonstrations, brain MRI findings and DNA mutations. Two were male and four were female. Their age ranged between 2 and 17 years. Skeletal muscle biopsies were obtained in three and one showed misshaped and enlarged mitochondria under electron microscope. mtDNA mutation frequency was >30%. Five children were diagnosed with MELAS (mitochondrial encephalopathy, lactic acidosis, and strokelike episodes) and one with Leigh’s syndrome (LS). All were given cocktail and symptomatic treatments. One of the five MELAS children died from severe complications. The other four MELAS children remain alive; four showed improvement, and one remained unresponsive. Of the four who showed improvement, two do not have any abnormal signs and the other two have some degree of motor developmental delay and myotrophy. The LS child is doing well except for ataxia. Until better therapy such as mitochondrial gene therapy is available, cocktail and symptomatic treatments could at least stabilize these children. PMID:24069936

  3. 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.

  4. GENETIC POLYMORPHISMS AFFECTING SUSCEPTIBILITY TO MERCURY NEUROTOXICITY IN CHILDREN: SUMMARY FINDINGS FROM THE CASA PIA CHILDREN's AMALGAM CLINICAL TRIAL

    PubMed Central

    Woods, James S.; Heyer, Nicholas J.; Russo, Joan E.; Martin, Michael D.; Farin, Federico M.

    2014-01-01

    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

  5. Value of FNAC in diagnosis of different types of thyroiditis and its comparison with clinical and biochemical findings.

    PubMed

    Parveen, K; Barua, A R; Hossain, A; Zaman, J; Momen, A

    2009-07-01

    FNAC has developed tremendous improvement in the diagnosis of thyroiditis. The present study was designed to asses the usefulness of FNAC to diagnose various types of thyroiditis and to study their smear patterns. Over a period of one-year, 70 cases of thyroiditis have been evaluated on the basis of cytomorphological criteria and clinical findings of patients. The age ranged from 12-60 years. Majority of the cases were between 21 to 30 years of age with female preponderance in each group of thyroiditis. Among 70 cases, 26(37.14%) cases were Hashimoto's thyroiditis, 21(30%) cases were lymphocytic thyroiditis, seven (10%) cases as granulomatous thyroiditis and 16(22.8%) were non-specific thyroiditis. Further study was carried out in these 70 cases regarding biochemical thyroid status, ultrasonography and radionucleotide scan. Blood was drawn from all patients for estimation of antibody titer to compare with cytological diagnosis. It was found that, clinical examination and history of patients had limited value in the diagnosis of thyroiditis. Ultrasonography and thyroid scan could not reliably differentiate between patients with autoimmune thyroiditis and those with simple and nodular goiter. Biochemically hypothyroidism is more frequently evaluated with Hashimoto's diseases. On the other hand, hyperthyroidism was observed in most other types of thyroiditis. Cytologically diagnosed 78.72% cases of autoimmune thyroiditis had positive antibody titer. From the present study it is concluded that FNAC is a safe, reliable, cost effective and time saving method in the diagnosis of thyroiditis. Being a benign condition also reduce the rate of unnecessary operation, which can be treated conservatively.

  6. Effect of Fluoxetine Administration on Clinical and Echocardiographic Findings in Patients with Mitral Valve Prolapse and Generalized Anxiety Disorder: Randomized Clinical Trial

    PubMed Central

    Esfehani, Reza Jafarzadeh; Kamranian, Homan; Jalalyazdi, Majid

    2017-01-01

    Background Mitral valve prolapse (MVP) is accompanied by mental disorders including anxiety, which has similar presentations as MVP. It is hypothesised that treatment of anxiety might reduce the symptoms of MVP. Objective The aim of this study was to assess the clinical and echocardiographic effects of fluoxetine administration in patients with MVP and anxiety. Methods This randomized clinical trial was conducted on patients with documented MVP and generalised anxiety disorder (GAD) who were referred to Mashhad University of Medical Sciences cardiology clinics, Mashhad, Iran in 2015. Subjects were randomly assigned to intervention group who received propranolol and fluoxetine (both at 10 mg/day) and control group who received 10 mg/day propranolol. Assessments included echocardiography and GAD-7 questionnaire and rating of chest pain, that were performed at baseline and then weekly for 4 weeks. Analysis was performed using the Mann-Whitney U test and Two-way Repeated Measures Analysis of Variance (ANOVA). Results Sixty patients (25 male/ 35 female) with a mean age of 22.9 ± 2.5 years were studied in two groups of intervention (n = 30) and control (n = 30). GAD score was significantly higher in the intervention group (17.37 ± 1.61) compared with the control group (14.17 ± 0.83) (p<0.001). No significant difference was observed for changes in left atrium diameter, mitral annular diameter, left ventricular diameter or ejection fraction (p>0.05). Pain severity was reduced significantly more in control group (3.27 ± 1.26) compared to intervention group (2.80 ± 0.85) after treatment (p<0.001). Conclusions This study revealed that the co-administration of fluoxetine and propranolol may not only have no effective in improving echocardiographic changes of MVP but may also aggravate subjective findings of patients with MVP and GAD. Trial registration The trial is registered at the Iranian Clinical Trial Registry (IRCT.ir) with the IRCT identification number IRCT

  7. 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.

  8. The neuroanatomy of autism spectrum disorder: An overview of structural neuroimaging findings and their translatability to the clinical setting.

    PubMed

    Ecker, Christine

    2017-01-01

    Autism spectrum disorder is a complex neurodevelopmental disorder, which is accompanied by differences in brain anatomy, functioning and brain connectivity. Due to its neurodevelopmental character, and the large phenotypic heterogeneity among individuals on the autism spectrum, the neurobiology of autism spectrum disorder is inherently difficult to describe. Nevertheless, significant progress has been made in characterizing the neuroanatomical underpinnings of autism spectrum disorder across the human life span, and in identifying the molecular pathways that may be affected in autism spectrum disorder. Moreover, novel methodological frameworks for analyzing neuroimaging data are emerging that make it possible to characterize the neuroanatomy of autism spectrum disorder on the case level, and to stratify individuals based on their individual phenotypic make up. While these approaches are increasingly more often employed in the research setting, their applicability in the clinical setting remains a vision for the future. The aim of the current review is to (1) provide a general overview of recent structural neuroimaging findings examining the neuroanatomy of autism spectrum disorder across the human life span, and in males and females with the condition, (2) highlight potential neuroimaging (bio)markers that may in the future be used for the stratification of autism spectrum disorder individuals into biologically homogeneous subgroups and (3) inform treatment and intervention strategies.

  9. Clinical, haematological and biochemical findings in foals with neonatal Equine herpesvirus-1 infection compared with septic and premature foals.

    PubMed

    Perkins, G; Ainsworth, D M; Erb, H N; Del Piero, F; Miller, M; Wilkins, P A; Palmer, J; Frazer, M

    1999-09-01

    A retrospective multicentre study comparing historical, clinical, haematological, acid-base and biochemical findings of foals with Equine herpesvirus-1 (EHV-1) infection, septicaemia or prematurity was performed to determine if early diagnosis of EHV-1 foals was possible. Fifty-three foals were studied and were assigned to one of 2 groups: herpes positive (n = 14) or herpes negative (n = 39). The latter group included 20 septic, 11 premature, and 8 premature and septic foals. The presence of herpes antigen was confirmed by immunoperoxidase histochemical staining of tissues from necropsied foals. A nonparametric statistical analysis followed by a backwards elimination logistic regression was performed to establish a model at a P value of <0.05. All herpes positive foals died, while 47% (9/19) of the septic foals survived. Based upon our analysis, herpes positive foals were more likely to have total white blood cell counts less than 3 x 10(9)/l and to be icteric as compared to the septic and premature foals. Despite profound hepatic necrosis in the herpes positive foals, liver enzymes were not elevated and were not significantly different from the controls.

  10. Dose finding with drug combinations in cancer phase I clinical trials using conditional escalation with overdose control.

    PubMed

    Tighiouart, Mourad; Piantadosi, Steven; Rogatko, André

    2014-09-28

    We present a Bayesian adaptive design for dose finding of a combination of two drugs in cancer phase I clinical trials. The goal is to estimate the maximum tolerated dose (MTD) as a curve in the two-dimensional Cartesian plane. We use a logistic model to describe the relationship between the doses of the two agents and the probability of dose limiting toxicity. The model is re-parameterized in terms of parameters clinicians can easily interpret. Trial design proceeds using univariate escalation with overdose control, where at each stage of the trial, we seek a dose of one agent using the current posterior distribution of the MTD of this agent given the current dose of the other agent. At the end of the trial, an estimate of the MTD curve is proposed as a function of Bayes estimates of the model parameters. We evaluate design operating characteristics in terms of safety of the trial design and percent of dose recommendation at dose combination neighborhoods around the true MTD curve. We also examine the performance of the approach under model misspecifications for the true dose-toxicity relationship.

  11. Estimating the joint disease outbreak-detection time when an automated biosurveillance system is augmenting traditional clinical case finding.

    PubMed

    Shen, Yanna; Adamou, Christina; Dowling, John N; Cooper, Gregory F

    2008-04-01

    The goals of automated biosurveillance systems are to detect disease outbreaks early, while exhibiting few false positives. Evaluation measures currently exist to estimate the expected detection time of biosurveillance systems. Researchers also have developed models that estimate clinician detection of cases of outbreak diseases, which is a process known as clinical case finding. However, little research has been done on estimating how well biosurveillance systems augment traditional outbreak detection that is carried out by clinicians. In this paper, we introduce a general approach for doing so for non-endemic disease outbreaks, which are characteristic of bioterrorist induced diseases, such as respiratory anthrax. We first layout the basic framework, which makes minimal assumptions, and then we specialize it in several ways. We illustrate the method using a Bayesian outbreak detection algorithm called PANDA, a model of clinician outbreak detection, and simulated cases of a windborne anthrax release. This analysis derives a bound on how well we would expect PANDA to augment clinician detection of an anthrax outbreak. The results support that such analyses are useful in assessing the extent to which computer-based outbreak detection systems are expected to augment traditional clinician outbreak detection.

  12. 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.

  13. 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.

  14. Canine immune-mediated polyarthritis: Clinical and laboratory findings in 83 cases in western Canada (1991–2001)

    PubMed Central

    Stull, Jason W.; Evason, Michelle; Carr, Anthony P.; Waldner, Cheryl

    2008-01-01

    A hospital-based, case-control study was used to describe clinical and laboratory findings in 83 dogs diagnosed with noninfectious, nonerosive, immune-mediated polyarthritis (IMPA) in western Canada. Case medical records were reviewed. Cases were analyzed as total IMPA cases and as subgroups [breed, systemic lupus erythematosus (SLE), reactive, and idiopathic] and compared with the general canine hospital population. Dogs with IMPA differed in age (P = 0.004) and weight (P = 0.01) from other hospital admissions. Idiopathic IMPA cases were older (4–10 y; P < 0.05), compared with the general canine hospital population, and their common laboratory abnormalities included the following: leukocytosis, nonregenerative anemia, increased alkaline phosphatase, and hypoalbuminemia. The SLE cases were seen more often in summer and fall (P = 0.04), raising concern of an undiagnosed etiologic agent. The hock joint appeared to be the most reliable for diagnosis of IMPA, and arthrocentesis of both hock joints may aid in case identification. PMID:19252711

  15. Magnetisation transfer ratios and transverse magnetisation decay curves in optic neuritis: correlation with clinical findings and electrophysiology.

    PubMed Central

    Thorpe, J W; Barker, G J; Jones, S J; Moseley, I; Losseff, N; MacManus, D G; Webb, S; Mortimer, C; Plummer, D L; Tofts, P S

    1995-01-01

    Conventional MRI sequences do not permit the distinction between the different pathological characteristics (oedema, demyelination, gliosis, axonal loss) of the multiple sclerosis plaque. Magnetisation transfer imaging and transverse magnetisation decay curve (tMDC) analysis may be more specific. These techniques have been applied to the optic nerves in 20 patients with optic neuritis and the results correlated with clinical and visual evoked potential (VEP) findings. tMDC analysis failed to identify separate intracellular and extracellular water compartments within the optic nerve but gave a measure of transverse relaxation time (T2) without the confounding effects of CSF in the nerve sheath. Both T2 and magnetisation transfer ratio (MTR) were abnormal after an episode of optic neuritis. T2 did not correlate with visual function or with VEP latency or amplitude. There was a significant correlation between MTR reduction and prolongation of VEP latency: this increased latency may reflect an effect of myelin loss on MTR. Longer lesions were associated with worse visual outcome, implying that the overall extent of pathological involvement is likely to influence the degree of functional deficit. Images PMID:8530932

  16. 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...

  17. 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…

  18. 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

  19. The Epidemiology, Virology and Clinical Findings of Dengue Virus Infections in a Cohort of Indonesian Adults in Western Java

    PubMed Central

    Kosasih, Herman; Alisjahbana, Bachti; Nurhayati; de Mast, Quirijn; Rudiman, Irani F.; Widjaja, Susana; Antonjaya, Ungke; Novriani, Harli; Susanto, Nugroho H.; Jusuf, Hadi; van der Ven, Andre; Beckett, Charmagne G.; Blair, Patrick J.; Burgess, Timothy H.; Williams, Maya; Porter, Kevin R.

    2016-01-01

    Background Dengue has emerged as one of the most important infectious diseases in the last five decades. Evidence indicates the expansion of dengue virus endemic areas and consequently the exponential increase of dengue virus infections across the subtropics. The clinical manifestations of dengue virus infection include sudden fever, rash, headache, myalgia and in more serious cases, spontaneous bleeding. These manifestations occur in children as well as in adults. Defining the epidemiology of dengue in a given area is critical to understanding the disease and devising effective public health strategies. Methodology/Principal Findings Here, we report the results from a prospective cohort study of 4380 adults in West Java, Indonesia, from 2000–2004 and 2006–2009. A total of 2167 febrile episodes were documented and dengue virus infections were confirmed by RT-PCR or serology in 268 cases (12.4%). The proportion ranged from 7.6 to 41.8% each year. The overall incidence rate of symptomatic dengue virus infections was 17.3 cases/1,000 person years and between September 2006 and April 2008 asymptomatic infections were 2.6 times more frequent than symptomatic infections. According to the 1997 WHO classification guidelines, there were 210 dengue fever cases, 53 dengue hemorrhagic fever cases (including one dengue shock syndrome case) and five unclassified cases. Evidence for sequential dengue virus infections was seen in six subjects. All four dengue virus serotypes circulated most years. Inapparent dengue virus infections were predominantly associated with DENV-4 infections. Conclusions/Significance Dengue virus was responsible for a significant percentage of febrile illnesses in an adult population in West Java, Indonesia, and this percentage varied from year to year. The observed incidence rate during the study period was 43 times higher than the reported national or provincial rates during the same time period. A wide range of clinical severity was observed with

  20. Low prevalence of classical galactosemia in Korean population.

    PubMed

    Lee, Beom Hee; Cheon, Chong Kun; Kim, Jae-Min; Kang, Minji; Kim, Joo Hyun; Yang, Song Hyun; Kim, Gu-Hwan; Choi, Jin-Ho; Yoo, Han-Wook

    2011-01-01

    This study described the clinical and molecular genetic features of classical galactosemia in Korean population to contribute to the insight in the spectrum of galactosemia in the world, as little is known about the spectrum and incidence of galactosemia in Asia. During the 11-year study period, only three Korean children were identified as having classical galactosemia on the basis of the enzymatic and molecular genetic analysis. Asians have been reported to have mutations distinct from those of Caucasians and African Americans, indicating that galactose-1-phosphate uridyltransferase mutations are ethnically diverse. Our three patients had a total of three mutations (c.252+1G > A, p.Q169H and p.E363K), two of which were novel (p.E363K and c.252+1G > A) mutations. Interestingly, c.252+1G > A, which leads to skipping of exon 2, was observed in all three patients (three of six alleles), indicating that this mutation may be common in Koreans with classical galactosemia. Screening for classical galactosemia in 158,126 Korean newborns identified no patient with classical galactosemia. In conclusion, our findings provide further evidence for the ethnic diversity of classical galactosemia, which may be as rare in Koreans as in other Asian populations.

  1. Important factors in predicting mortality outcome from stroke: findings from the Anglia Stroke Clinical Network Evaluation Study

    PubMed Central

    O. Bachmann, Max; Loke, Yoon Kong; D. Musgrave, Stanley; Price, Gill M.; Hale, Rachel; Metcalf, Anthony Kneale; Turner, David A.; Day, Diana J.; A. Warburton, Elizabeth; Potter, John F.

    2017-01-01

    Abstract Background although variation in stroke service provision and outcomes have been previously investigated, it is less well known what service characteristics are associated with reduced short- and medium-term mortality. Methods data from a prospective multicentre study (2009–12) in eight acute regional NHS trusts with a catchment population of about 2.6 million were used to examine the prognostic value of patient-related factors and service characteristics on stroke mortality outcome at 7, 30 and 365 days post stroke, and time to death within 1 year. Results a total of 2,388 acute stroke patients (mean (standard deviation) 76.9 (12.7) years; 47.3% men, 87% ischaemic stroke) were included in the study. Among patients characteristics examined increasing age, haemorrhagic stroke, total anterior circulation stroke type, higher prestroke frailty, history of hypertension and ischaemic heart disease and admission hyperglycaemia predicted 1-year mortality. Additional inclusion of stroke service characteristics controlling for patient and service level characteristics showed varying prognostic impact of service characteristics on stroke mortality over the disease course during first year after stroke at different time points. The most consistent finding was the benefit of higher nursing levels; an increase in one trained nurses per 10 beds was associated with reductions in 30-day mortality of 11–28% (P < 0.0001) and in 1-year mortality of 8–12% (P < 0.001). Conclusions there appears to be consistent and robust evidence of direct clinical benefit on mortality up to 1 year after acute stroke of higher numbers of trained nursing staff over and above that of other recognised mortality risk factors. PMID:28181626

  2. 'You find yourself.' Perceptions of nursing students from non-English speaking backgrounds of the effect of an intensive language support program on their oral clinical communication skills.

    PubMed

    Rogan, Fran; San Miguel, Caroline; Brown, Di; Kilstoff, Kathleen

    2006-10-01

    Nurses of ethnically diverse backgrounds are essential in providing multicultural populations in western societies with culturally and linguistically competent health care. However, many nurses from non-English speaking backgrounds (NESB) are at high risk of failure in university programs particularly during clinical placements. Few studies investigate the clinical experiences of students from NESB and strategies to support their learning. This study describes perceptions of fifteen undergraduate nursing students from NESB about their first clinical placement in an Australian university program and the effect of a language support program on their oral clinical communication skills. Three categories arose: *Wanting to belong but feeling excluded; *Wanting to learn how to...; and *You find yourself. While many students find clinical placement challenging, it appeared difficult for students in this study as language and cultural adjustments required some modification of their usual ways of thinking and communicating, often without coping strategies available to other students.

  3. 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.

  4. Clinical and economic consequences of non-cardiac incidental findings detected on cardiovascular computed tomography performed prior to transcatheter aortic valve implantation (TAVI).

    PubMed

    Lindsay, Alistair C; Sriharan, Mona; Lazoura, Olga; Sau, Arunashis; Roughton, Michael; Jabbour, Richard J; Di Mario, Carlo; Davies, Simon W; Moat, Neil E; Padley, Simon P G; Rubens, Michael B; Nicol, Edward D

    2015-10-01

    Transcatheter aortic valve implantation (TAVI) is an effective treatment option for patients with severe degenerative aortic valve stenosis who are high risk for conventional surgery. Computed tomography (CT) performed prior to TAVI can detect pathologies that could influence outcomes following the procedure, however the incidence, cost, and clinical impact of incidental findings has not previously been investigated. 279 patients underwent CT; 188 subsequently had TAVI and 91 were declined. Incidental findings were classified as clinically significant (requiring treatment), indeterminate (requiring further assessment), or clinically insignificant. The primary outcome measure was all-cause mortality up to 3 years. Costs incurred by additional investigations resultant to incidental findings were estimated using the UK Department of Health Payment Tariff. Incidental findings were common in both the TAVI and medical therapy cohorts (54.8 vs. 70.3%; P = 0.014). Subsequently, 45 extra investigations were recommended for the TAVI cohort, at an overall average cost of £32.69 per TAVI patient. In a univariate model, survival was significantly associated with the presence of a clinically significant or indeterminate finding (HR 1.61; P = 0.021). However, on multivariate analysis outcomes after TAVI were not influenced by any category of incidental finding. Incidental findings are common on CT scans performed prior to TAVI. However, the total cost involved in investigating these findings is low, and incidental findings do not independently identify patients with poorer outcomes after TAVI. The discovery of an incidental finding on CT should not necessarily influence or delay the decision to perform TAVI.

  5. From Dish to Bedside: Lessons Learned While Translating Findings from a Stem Cell Model of Disease to a Clinical Trial.

    PubMed

    McNeish, John; Gardner, Jason P; Wainger, Brian J; Woolf, Clifford J; Eggan, Kevin

    2015-07-02

    While iPSCs have created unprecedented opportunities for drug discovery, there remains uncertainty concerning the path to the clinic for candidate therapeutics discovered with their use. Here we share lessons that we learned, and believe are generalizable to similar efforts, while taking a discovery made using iPSCs into a clinical trial.

  6. 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

  7. Association between the findings on magnetic resonance imaging screening for syringomyelia in asymptomatic Cavalier King Charles spaniels and observation of clinical signs consistent with syringomyelia in later life.

    PubMed

    Ives, E J; Doyle, L; Holmes, M; Williams, T L; Vanhaesebrouck, A E

    2015-01-01

    A questionnaire-based study was used to investigate the association between the findings on magnetic resonance imaging (MRI) screening for syringomyelia (SM) in 79 asymptomatic Cavalier King Charles spaniels (CKCS) and the subsequent development of clinical signs consistent with SM in later life. Owners reported clinical signs consistent with SM in 13/79 (16%) dogs at the time of the questionnaire. A significantly greater proportion of CKCS with a syrinx visible on MRI screening showed clinical signs in later life (9/25, 36%) than dogs without a visible syrinx (4/54, 7%; odds ratio 6.9). Whether the findings of MRI screening can be used to indicate the likelihood of an asymptomatic CKCS developing clinical signs consistent with SM in later life warrants further prospective study in a larger cohort of dogs.

  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. A study of neurosonogram abnormalities, clinical correlation with neurosonogram findings, and immediate outcome of high-risk neonates in Neonatal Intensive Care Unit

    PubMed Central

    Nagaraj, Niranjan; Berwal, Pramod Kumar; Srinivas, Anusha; Sehra, Ramnarayan; Swami, Sarika; Jeevaji, Prathyusha; Swami, Gotam; Choudary, Lokesh; Berwal, Ayush

    2016-01-01

    Background: Neonatal sonography of the brain is now an essential part of newborn care, particularly in high risk and unstable premature infants. Cranial ultrasound is the most available and easily repeatable imaging technique for the neonatal brain showing brain development and the most frequently occurring forms of cerebral injury in the preterm and terms. This study aims to assess the importance of cranial ultrasound as an investigatory modality for high-risk neonates and to find out the morphology of various cerebral lesions and correlate clinically. Methodology: An observational correlation clinical study was conducted at Sardar Patel Medical College, Bikaner involving 100 high-risk neonates admitted to Neonatal Intensive Care Unit (NICU) who was subjected to neurosonography on selected days as per protocol. Perinatal details were recorded, and clinical examination with appropriate investigations was done. The cranial ultrasound was done, and morphology of various findings was studied and recorded. Clinical correlation with cranial ultrasound findings and follow-up was done. Results: On cranial ultrasound, 38% of neonates had abnormal findings. Twelve percent of these had evidence of intracranial bleed, 13% periventricular echogenicity, 7% had ventriculomegaly, 2% had cerebral edema, and 1% had leukomalacia. Three neonates had findings suggestive of simple cyst in middle cranial fossa, agenesis of corpus callosum, and choroid plexus cyst. Conclusions: Cranial ultrasonography is the best point of care neuroimaging method available for high-risk neonates. It is critical as an investigatory modality in NICU and effectively documents morphology of cerebral damage. PMID:27857787

  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. 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…

  12. 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…

  13. 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

  14. A comparison of MRI, radiographic and clinical findings of the position of the TMJ articular disc following open treatment of condylar neck fractures.

    PubMed

    Schneider, Alexander; Zahnert, Diana; Klengel, Steffen; Loukota, Richard; Eckelt, Uwe

    2007-10-01

    We examined the position and function of the articular disc after open treatment of condylar fractures by comparing magnetic resonance images (MRI) and radiographs with clinical data. MRI and radiographs were taken after treatment of 28 patients with 33 fractures of the mandibular condyles. In all cases, the disc was located in the fossa after open reduction and internal fixation (ORIF). The MRI, radiographic and clinical findings did not correlate, and damage to the temporomandibular joint (TMJ) could be seen more clearly on MRI than on clinical or radiographic examination. Damage to soft tissues seen on MRI after treatment was more pronounced in dislocated than in displaced fractures.

  15. How Should Remote Clinical Monitoring Be Used to Treat Alcohol Use Disorders?: Initial Findings From an Expert Round Table Discussion

    PubMed Central

    Gordon, Alan; Jaffe, Adi; McLellan, A. Thomas; Richardson, Gary; Skipper, Gregory; Sucher, Michel; Tirado, Carlos F.; Urschel, Harold C.

    2017-01-01

    Scientific evidence combined with new health insurance coverage now enable a chronic illness management approach to the treatment of alcohol use disorders (AUDs), including regular monitoring of blood alcohol content (BAC), as a useful indicator of disease control. Recent technical advances now permit many different types of remote, real-time monitoring of BAC. However, there is no body of research to empirically guide clinicians in how to maximize the clinical potential of remote BAC monitoring. As an initial step in guiding and supporting such research, the manufacturer of one remote BAC monitoring system sponsored a group of experienced clinicians and clinical researchers to discuss 8 issues that generally affect remote, clinical BAC monitoring of “adults in outpatient AUD treatment.” The expert panel unanimously agreed that remote BAC monitoring for at least 12 months during and after the outpatient treatment of AUD was a clinically viable deterrent to relapse. There was also consensus that positive test results (ie, recent alcohol use) should lead to intensified care and monitoring. However, there was no agreement on specific types of clinical intensification after a positive test. The panel agreed that sharing positive and negative test results with members of the patient support group was helpful in reinforcing abstinence, yet they noted many practical issues regarding information sharing that remain concerning. Significant differences within the panel on several important clinical issues underline the need for more clinical and implementation research to produce empirically-supported guidelines for the use of remote BAC monitoring in AUD treatment. PMID:28157829

  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.

  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.

  18. Asperger Syndrome in India: Findings from a Case-Series with Respect to Clinical Profile and Comorbidity

    PubMed Central

    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

  19. Consent for genetics studies among clinical trial participants: findings from Action for Health in Diabetes (Look AHEAD)

    Technology Transfer Automated Retrieval System (TEKTRAN)

    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. We describe the experience obtaining IRB-approved DNA consent forms across the 19 institutions in the Action for Healt...

  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. Classical Galactosaemia in Ireland: incidence, complications and outcomes of treatment.

    PubMed

    Coss, K P; Doran, P P; Owoeye, C; Codd, M B; Hamid, N; Mayne, P D; Crushell, E; Knerr, I; Monavari, A A; Treacy, E P

    2013-01-01

    Newborn screening for the inborn error of metabolism, classical galactosaemia prevents life-threatening complications in the neonatal period. It does not however influence the development of long-term complications and the complex pathophysiology of this rare disease remains poorly understood. The objective of this study was to report the development of a healthcare database (using Distiller Version 2.1) to review the epidemiology of classical galactosaemia in Ireland since initiation of newborn screening in 1972 and the long-term clinical outcomes of all patients attending the National Centre for Inherited Metabolic Disorders (NCIMD). Since 1982, the average live birth incidence rate of classical galactosaemia in the total Irish population was approximately 1:16,476 births. This reflects a high incidence in the Irish 'Traveller' population, with an estimated birth incidence of 1:33,917 in the non-Traveller Irish population. Despite early initiation of treatment (dietary galactose restriction), the long-term outcomes of classical galactosaemia in the Irish patient population are poor; 30.6 % of patients ≥ 6 yrs have IQs <70, 49.6 % of patients ≥ 2.5 yrs have speech or language impairments and 91.2 % of females ≥ 13 yrs suffer from hypergonadotrophic hypogonadism (HH) possibly leading to decreased fertility. These findings are consistent with the international experience. This emphasizes the requirement for continued clinical research in this complex disorder.

  2. Clinical and Electron Microscopic Findings in Two Patients with Mitochondrial Myopathy Associated with Episodic Hyper-creatine Kinase-emia.

    PubMed

    Nozuma, Satoshi; Okamoto, Yuji; Higuchi, Itsuro; Yuan, Junhui; Hashiguchi, Akihiro; Sakiyama, Yusuke; Yoshimura, Akiko; Higuchi, Yujiro; Takashima, Hiroshi

    2015-01-01

    Mitochondrial myopathy with episodic hyper-creatine kinase (CK)-emia (MIMECK) is a new disease entity characterized by episodic or persistent muscle weakness and elevated CK levels. We herein report two cases of MIMECK with the findings of histopathological studies. Histopathological examinations revealed strongly succinate dehydrogenase-reactive vessels. Electron microscopy showed abnormal mitochondria in the vessels and proliferating and vacuolated mitochondria under the sarcolemma. Both patients exhibited recurrent severe myalgia, weakness and increased CK levels. L-arginine treatment significantly ameliorated their muscle symptoms. These findings indicate that mitochondrial angiopathy plays an important role in the pathophysiology of MIMECK. L-arginine may be a potential therapeutic agent for this disorder.

  3. Toward a unified theory of childhood trauma and psychosis: A comprehensive review of epidemiological, clinical, neuropsychological and biological findings.

    PubMed

    Misiak, Błażej; Krefft, Maja; Bielawski, Tomasz; Moustafa, Ahmed A; Sąsiadek, Maria M; Frydecka, Dorota

    2017-02-16

    There is a growing body of research focused on the relationship between childhood trauma and the risk of developing psychosis. Numerous studies, including many large-scale population-based studies, controlling for possible mediating variables, provide persuasive evidence of a dose-response association and are indicative of a causal relationship. Existing evidence supports the specificity model, showing differential associations between particular adversities and clinical symptoms, with cumulative adversity causing less favorable clinical and functional outcomes in psychotic patients. To date, several psychological and biological models have been proposed to search for underlying developmental trajectories leading to the onset of psychosis, influencing psychopathological manifestation and negative functional outcomes due to a history of childhood trauma. In this article, we provide a unified review on the relationship between childhood trauma and psychosis by integrating results of epidemiological, clinical, neuropsychological and biological studies. The question whether psychosis with a positive history of childhood trauma should be considered as a new psychotic phenotype, requiring specific therapeutic interventions, warrants further investigation.

  4. 60 years of Cimicifuga racemosa medicinal products : Clinical research milestones, current study findings and current development.

    PubMed

    Henneicke-von Zepelin, Hans-Heinrich

    2017-02-02

    Cimicifuga racemosa (CR) extracts are important worldwide as therapy for menopausal symptoms. The first medicinal product from CR has been available since 1956 (Germany, Remifemin® [Schaper & Brümmer, Salzgitter, Germany], isopropanolic extract iCR). This review describes how CR developed, via clinical studies on safety (breast, breast cancer, endometrium, liver) and efficacy, into a successful and safe medicinal product in Germany, Europe and the world. In line with developing legal frameworks for medicinal products in Germany and Europe, clinical studies on CR were observational during the 50s and 70s, and controlled studies since the 80s. The first placebo-controlled study emerged 1986. From 2000 to 2015, a total of 28 clinical studies in Europe, America and Asia were published on the efficacy of CR. In these studies, 11,073 patients received a CR-based medicinal product, 93% thereof iCR. A meta-analysis of all nine placebo-controlled studies published until 2013 confirmed the reliable efficacy of CR-based medicinal products for menopausal symptoms.

  5. 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.

  6. Toxicity and Efficacy Probability Interval Design for Phase I Adoptive Cell Therapy Dose-Finding Clinical Trials.

    PubMed

    Li, Daniel H; Whitmore, James B; Guo, Wentian; Ji, Yuan

    2017-01-01

    Recent trials of adoptive cell therapy (ACT), such as the chimeric antigen receptor (CAR) T-cell therapy, have demonstrated promising therapeutic effects for cancer patients. A main issue in the product development is to determine the appropriate dose of ACT. Traditional phase I trial designs for cytotoxic agents explicitly assume that toxicity increases monotonically with dose levels and implicitly assume the same for efficacy to justify dose escalation. ACT usually induces rapid responses, and the monotonic dose-response assumption is unlikely to hold due to its immunobiologic activities.