Sample records for underrecognized clinical entity

  1. Embolic Strokes of Unknown Source and Cryptogenic Stroke: Implications in Clinical Practice

    PubMed Central

    Nouh, Amre; Hussain, Mohammed; Mehta, Tapan; Yaghi, Shadi

    2016-01-01

    Up to a third of strokes are rendered cryptogenic or of undetermined etiology. This number is specifically higher in younger patients. At times, inadequate diagnostic workups, multiple causes, or an under-recognized etiology contributes to this statistic. Embolic stroke of undetermined source, a new clinical entity particularly refers to patients with embolic stroke for whom the etiology of embolism remains unidentified despite through investigations ruling out established cardiac and vascular sources. In this article, we review current classification and discuss important clinical considerations in these patients; highlighting cardiac arrhythmias and structural abnormalities, patent foramen ovale, paradoxical sources, and potentially under-recognized, vascular, inflammatory, autoimmune, and hematologic sources in relation to clinical practice. PMID:27047443

  2. [Cyclothymic obsessive-compulsive disorder. Clinical characteristics of a neglected and under-recognized entity].

    PubMed

    Hantouche, E G; Demonfaucon, C; Angst, J; Perugi, G; Allilaire, J F; Akiskal, H S

    2002-04-13

    Clinical research is largely focused on depressive comorbidity in obsessional compulsive disorder (OCD). However some recent publications have suggested that bipolar comorbidity occurs in authentic OCD and its presence has a differential impact on the clinical picture and course of OCD. Recent data from the collaborative survey conducted with AFTOC (French Association of patients suffering from OCD) have revealed a high rate of bipolar comorbidity in OCD: 30% for hypomania and 50% for cyclothymia. The present paper presents further comparative analyses between OCD with (n = 302) versus without cyclothymia (n = 272). The sub-group "Cyclothymic OCD" is characterized by a different clinical picture (higher frequency of aggressive, impulsive, religious and sexual obsessions, and compulsions of control, hoarding, repetition), episodic course, higher rate of major depressive episodes (with more intensity and recurrence) associated with higher rates of suicide attempts and psychiatric admissions, and less favorable response to anti-OCD treatments. These data suggested that cyclothymic OCD could represent a specific distinct variant form of OCD. More vigilance is needed toward this entity which is largely under-recognized in clinical practice.

  3. Vasculitis mimics.

    PubMed

    Molloy, Eamonn S; Langford, Carol A

    2008-01-01

    There are many disorders that may closely resemble the clinical, radiologic and/or pathologic features of the primary vasculitides. In this review, we focus on recently described and under-recognized syndromes that may mimic vasculitis. Hereditary causes of large-artery aneurysms such as Marfan's syndrome have long been recognized; recent years have seen a greater understanding of the genetics of Marfan's and other such disorders, including Loeys-Dietz syndrome and Ehler-Danlos syndrome type IV. Under-recognized mimics of medium-vessel vasculitis include segmental arterial mediolysis and Grange syndrome. A large number of entities can mimic small-vessel vasculitis. Recent descriptions of antibodies to human neutrophil elastase have provided insight into the occurrence of antineutrophil cytoplasmic antibodies in cocaine-induced midline destructive lesions. The differential diagnosis of cerebral vasculitis can be particularly difficult. Reversible cerebral vasoconstriction syndromes represent an important class of entities that can readily mimic cerebral vasculitis but have a very different management approach and outcome. The diagnosis of vasculitis requires careful assessment of all available clinical, laboratory, radiologic and pathologic information, and consideration of many competing differential diagnoses. Awareness of noninflammatory mimics of vasculitis is essential to avoid unnecessary and potentially harmful treatment with immunosuppressive agents.

  4. Idiopathic Noncirrhotic Portal Hypertension: An Appraisal

    PubMed Central

    Lee, Hwajeong; Rehman, Aseeb Ur; Fiel, M. Isabel

    2016-01-01

    Idiopathic noncirrhotic portal hypertension is a poorly defined clinical condition of unknown etiology. Patients present with signs and symptoms of portal hypertension without evidence of cirrhosis. The disease course appears to be indolent and benign with an overall better outcome than cirrhosis, as long as the complications of portal hypertension are properly managed. This condition has been recognized in different parts of the world in diverse ethnic groups with variable risk factors, resulting in numerous terminologies and lack of standardized diagnostic criteria. Therefore, although the diagnosis of idiopathic noncirrhotic portal hypertension requires clinical exclusion of other conditions that can cause portal hypertension and histopathologic confirmation, this entity is under-recognized clinically as well as pathologically. Recent studies have demonstrated that variable histopathologic entities with different terms likely represent a histologic spectrum of a single entity of which obliterative portal venopathy might be an underlying pathogenesis. This perception calls for standardization of the nomenclature and formulation of widely accepted diagnostic criteria, which will facilitate easier recognition of this disorder and will highlight awareness of this entity. PMID:26563701

  5. Breathlessness and blood: a combustible combination.

    PubMed

    Popovsky, Mark A

    2002-08-01

    Pulmonary complications are increasingly recognized as serous hazards of transfusion. The evidence suggests that transfusion-related acute lung injury (TRALI) and transfusion-associated circulatory overload (TACO) are underrecognized. Both present with dyspnea but other signs and symptoms assist in determining the proper diagnosis. Males and females are equally affected. Morbidity is significant with both complications and in the case of TRALI, the mortality is in the range of 6-10%. Although the clinical descriptions of both entities are well established, the clinical profile of the at-risk population for both TRALI and TACO is not well understood. Because early intervention can reduce morbidity, it is important that clinicians recognize these disorders and apply appropriate treatment.

  6. Tuberculosis-associated Fibrosing Mediastinitis: Case Report and Literature Review.

    PubMed

    Tan, Ronald; Martires, Joanne; Kamangar, Nader

    2016-01-01

    Fibrosing mediastinitis is a rare condition defined by the presence of fibrotic mediastinal infiltrates that obliterate normal fat planes. It is a late complication of a previous granulomatous infection, such as histoplasmosis or tuberculosis (TB). Due to its rarity, fibrosing mediastinitis is often under-recognized, and the clinical presentation is variable and dependent on the extent of infiltration or encasement of structures within the mediastinum. We present a case of fibrosing mediastinitis in a man with a prior history of TB, who presented with progressive dyspnea and was found to have chronic mediastinal soft tissue opacities and pulmonary hypertension. His diagnosis was delayed due to the lack of recognition of this clinical/radiographic entity. Fibrosing mediastinitis is a rare entity usually caused by granulomatous disease. Most cases develop as a late complication of histoplasmosis or TB. The presence of calcified mediastinal soft tissue infiltrates on advanced chest imaging can be diagnostic of fibrosing mediastinitis in patients with a prior history of a granulomatous infection once active processes such as malignancy are excluded.

  7. Sensory chronic inflammatory demyelinating polyneuropathy: an under-recognized entity?

    PubMed

    Ayrignac, Xavier; Viala, Karine; Koutlidis, Régine Morizot; Taïeb, Guillaume; Stojkovic, Tanya; Musset, Lucille; Léger, Jean-Marc; Fournier, Emmanuel; Maisonobe, Thierry; Bouche, Pierre

    2013-11-01

    Sensory chronic inflammatory demyelinating polyneuropathy (CIDP) can be difficult to diagnose. We report 22 patients with chronic sensory polyneuropathy with ≥1 clinical sign atypical for chronic idiopathic axonal polyneuropathy (CIAP) but no electrodiagnostic criteria for CIDP. Clinical signs atypical for CIAP were: sensory ataxia (59%), generalized areflexia (36%), cranial nerve involvement (32%), rapid upper limb involvement (40%), and age at onset ≤55 years (50%). Additional features were: normal sensory nerve action potentials (36%), abnormal radial/normal sural pattern (23%), abnormal somatosensory evoked potentials (SSEPs) (100%), elevated cerebrospinal fluid (CSF) protein (73%), and demyelinating features in 5/7 nerve biopsies. Over 90% of patients responded to immunotherapy. We conclude that all patients had sensory CIDP. Sensory CIDP patients can be misdiagnosed as having CIAP. If atypical clinical/electrophysiologic features are present, we recommend performing SSEPs and CSF examination. Nerve biopsy should be restricted to disabled patients if other examinations are inconclusive. Copyright © 2013 Wiley Periodicals, Inc.

  8. Early awareness of cerebrospinal fluid hypovolemia after craniotomy for microsurgical aneurysmal clipping.

    PubMed

    Kawahara, Ichiro; Tsutsumi, Keisuke; Matsunaga, Yuki; Takahata, Hideaki; Ono, Tomonori; Toda, Keisuke; Baba, Hiroshi

    2013-08-01

    Mild cerebrospinal fluid (CSF) hypovolemia is a well-known clinical entity, but critical CSF hypovolemia that can cause transtentorial herniation is an unusual and rare clinical entity that occurs after craniotomy. We investigated CSF hypovolemia after microsurgical aneurysmal clipping for subarachnoid hemorrhage (SAH). This study included 144 consecutive patients with SAH. Lumbar drainage (LD) was inserted after general anesthesia or postoperatively as a standard perioperative protocol. CSF hypovolemia diagnosis was based on three criteria. Eleven patients (7.6%) were diagnosed with CSF hypovolemia according to diagnostic criteria in a postoperative range of 0-8 days. In all patients, signs or symptoms of CSF hypovolemia improved within 24 hours by clamping LD and using the Trendelenburg position. As a cause of acute clinical deterioration after aneurysmal clipping, CSF hypovolemia is likely under-recognized, and may actually be misdiagnosed as vasospasm or brain swelling. We should always take the etiology of CSF hypovolemia into consideration, and especially pay attention in patients with pneumocephalus and subdural fluid collection alongside brain sag on computed tomography. These patients are at higher risk developing of pressure gradients between their cranial and spinal compartments, and therefore, brain sagging after LD, than after ventricular drainage. We should be vigilant to strictly manage LD so as not to produce high pressure gradients.

  9. Keratolysis exfoliativa (dyshidrosis lamellosa sicca): a distinct peeling entity.

    PubMed

    Chang, Y Y; van der Velden, J; van der Wier, G; Kramer, D; Diercks, G F H; van Geel, M; Coenraads, P J; Zeeuwen, P L J M; Jonkman, M F

    2012-11-01

    Keratolysis exfoliativa (KE), also known as dyshidrosis lamellosa sicca, is a palmoplantar dermatosis characterized by air-filled blisters and collarette desquamation. It has been regarded as a subtype of dyshidrotic eczema, a fungal infection or a dermatophytid reaction. KE may also resemble acral peeling skin syndrome and localized epidermolysis bullosa simplex. Although KE is a common disorder, it is a rarely reported and is an under-recognized dermatosis. To delineate the characteristic features of KE. We investigated the clinical, immunohistopathological, ultrastructural and molecular features of KE. Patients were included from the clinical records. Additional diagnostic research consisted of mutation analysis of the candidate genes TGM5, KRT5, KRT14, FLG, SPINK6 and SPINK9. A total of 24 patients with KE were identified, six with familial and 18 with sporadic KE. Lesions consisted of air-filled blisters only on palmoplantar skin, followed by collarette and lamellar peeling. Both light microscopy and electron microscopy showed cleavage and partially degraded corneodesmosomes within the stratum corneum, whereas immunofluorescence microscopy showed normal expression of corneodesmosomal components. No mutations were found in TGM5, KRT5/14 and SPINK6/9. There was no clear link with atopy or with FLG mutations. Our study suggests premature corneodesmolysis as the main pathological mechanism of this palmoplantar skin disorder. We conclude that KE appears to be a distinct peeling entity. © 2012 The Authors. BJD © 2012 British Association of Dermatologists.

  10. Refeeding syndrome: a clinical review.

    PubMed

    Ormerod, Clare; Farrer, Kirstine; Harper, Lindsay; Lal, Simon

    2010-12-01

    Refeeding syndrome can result in a wide variety of complications and may be life threatening. Although well described in hospital practice, refeeding syndrome is often under-recognized and inadequately treated.

  11. Clinical and diagnostic features of delayed hypoxic leukoencephalopathy.

    PubMed

    Shprecher, David R; Flanigan, Kevin M; Smith, A Gordon; Smith, Shawn M; Schenkenberg, Thomas; Steffens, John

    2008-01-01

    Delayed hypoxic leukoencephalopathy is an underrecognized syndrome of delayed demyelination, which is important to consider when delayed onset of neuropsychiatric symptoms follows a hypoxic event. The authors describe clinical and diagnostic features of three such cases, review the pathophysiology of delayed hypoxic leukoencephalopathy, and discuss features which may help distinguish it from toxic leukoencephalopathy.

  12. Bed Partner "Gas-Lighting" as a Cause of Fictitious Sleep-Talking.

    PubMed

    Bashford, James; Leschziner, Guy

    2015-10-15

    A case report highlighting a rare and striking, but perhaps under-recognized, cause of reported sleep-talking to a specialist sleep clinic, involving "gas-lighting" by the bed partner. © 2015 American Academy of Sleep Medicine.

  13. Lymphoepithelioma-like carcinoma of the vulva, an underrecognized entity? Case report with a single inguinal micrometastasis detected by sentinel node technique.

    PubMed

    Bösmüller, Hans; Haitchi-Petnehazy, Sophie; Gruber, Christine; Roithmeier, Franz; Stummvoll, Wolfgang; Webersinke, Gerald

    2011-01-10

    This report describes an unusual EBV-negative lymphoepithelioma-like carcinoma of the vulva in a 73-year-old patient. The lesion was localised at the right minor labium and was resected by partial vulvectomy. A synchronous sentinel lymph node biopsy revealed a single micrometastasis in the right inguinal region, which prompted local radiotherapy. Follow-up nine months later showed only slight vulvar atrophy, without signs of local recurrence or distant metastases.Although lymphoepithelioma-like carcinomas of the skin and the female genital tract are presumed to have a better prognosis than their counterparts in the upper aerodigestive tract, possibly due to earlier detection and therapy, this case documents their potential for early metastasis.

  14. Mollaret meningitis: case report with a familial association.

    PubMed

    Jones, Christopher W; Snyder, Graham E

    2011-09-01

    Mollaret meningitis is a syndrome characterized by recurrent bouts of meningitis that occur over a period of several years in an affected patient. Also known as recurrent lymphocytic meningitis, this entity involves repeated episodes of headache, stiff neck, fever, and cerebrospinal fluid pleocytosis. Herpes simplex virus type 2 is the most frequently implicated causative agent, and treatment involves the use of antiviral medications. We describe a case of Mollaret meningitis in a 47-year-old man who presented to the emergency department with his eighth episode of meningitis during a period of 20 years. Cerebrospinal fluid polymerase chain reaction testing for herpes simplex virus type 2 was positive, and further testing excluded other common viral, bacterial, and inflammatory causes of meningeal irritation. The patient's family history was significant for a brother who also had multiple episodes of aseptic meningitis during a period of several years. This represents the first published report of a possible familial association involving Mollaret meningitis. It is likely that Mollaret meningitis is underrecognized among emergency physicians, and improved recognition of this entity may limit unwarranted antibiotic use and shorten or eliminate unnecessary hospital admission.

  15. Idelalisib-induced colitis and skin eruption mimicking graft-versus-host disease.

    PubMed

    Hammami, Muhammad Bader; Al-Taee, Ahmad; Meeks, Marshall; Fesler, Mark; Hurley, M Yadira; Cao, Dengfeng; Lai, Jin-Ping

    2017-04-01

    Idelalisib is a selective inhibitor of the delta isoform of phosphatidylinositol 3-kinase which was approved by the United States Federal Drug Administration in 2014 for the treatment of relapsed chronic lymphocytic leukemia and indolent non-Hodgkin lymphoma. Drug-induced injury of the gastrointestinal tract is a relatively frequent but usually under-recognized disease entity. We report the case of a 56-year-old male with a history of relapsed follicular lymphoma status post allogenic bone marrow transplant who developed severe diarrhea with a skin eruption mimicking graft-versus-host disease (GVHD) 6 months after starting idelalisib. He underwent a colonoscopy demonstrating a grossly normal-appearing colon and terminal ileum. Biopsies taken during the procedure revealed mild active ileitis, colitis, and proctitis with frequent epithelial apoptosis, and focal intra-epithelial lymphocytosis. Skin biopsies revealed sub-acute spongiotic dermatitis suggestive of either contact dermatitis or an eczematous drug reaction. Symptoms were attributed to idelalisib given their resolution with withdrawal of the drug in conjunction with the skin and colonic biopsies. High clinical suspicion and awareness of the histological features of idelalisib-associated colitis is important to distinguish it from potential mimickers such as GVHD and infectious colitis.

  16. Asymmetric type F botulism with cranial nerve demyelination.

    PubMed

    Filozov, Alina; Kattan, Jessica A; Jitendranath, Lavanya; Smith, C Gregory; Lúquez, Carolina; Phan, Quyen N; Fagan, Ryan P

    2012-01-01

    We report a case of type F botulism in a patient with bilateral but asymmetric neurologic deficits. Cranial nerve demyelination was found during autopsy. Bilateral, asymmetric clinical signs, although rare, do not rule out botulism. Demyelination of cranial nerves might be underrecognized during autopsy of botulism patients.

  17. Lymphoepithelioma-like carcinoma of the vulva, an underrecognized entity? Case report with a single inguinal micrometastasis detected by sentinel node technique

    PubMed Central

    2011-01-01

    This report describes an unusual EBV-negative lymphoepithelioma-like carcinoma of the vulva in a 73-year-old patient. The lesion was localised at the right minor labium and was resected by partial vulvectomy. A synchronous sentinel lymph node biopsy revealed a single micrometastasis in the right inguinal region, which prompted local radiotherapy. Follow-up nine months later showed only slight vulvar atrophy, without signs of local recurrence or distant metastases. Although lymphoepithelioma-like carcinomas of the skin and the female genital tract are presumed to have a better prognosis than their counterparts in the upper aerodigestive tract, possibly due to earlier detection and therapy, this case documents their potential for early metastasis. PMID:21219641

  18. Asymmetric Type F Botulism with Cranial Nerve Demyelination

    PubMed Central

    Kattan, Jessica A.; Jitendranath, Lavanya; Smith, C. Gregory; Lúquez, Carolina; Phan, Quyen N.; Fagan, Ryan P.

    2012-01-01

    We report a case of type F botulism in a patient with bilateral but asymmetric neurologic deficits. Cranial nerve demyelination was found during autopsy. Bilateral, asymmetric clinical signs, although rare, do not rule out botulism. Demyelination of cranial nerves might be underrecognized during autopsy of botulism patients. PMID:22257488

  19. Delayed posthypoxic leukoencephalopathy: a case series and review of the literature

    PubMed Central

    Zamora, Carlos A; Nauen, David; Hynecek, Robert; Ilica, Ahmet T; Izbudak, Izlem; Sair, Haris I; Gujar, Sachin K; Pillai, Jay J

    2015-01-01

    Background Delayed posthypoxic leukoencephalopathy (DPHL) is a rare and underrecognized entity where patients manifest a neurological relapse after initial recovery from an acute hypoxic episode. We sought to describe the magnetic resonance imaging (MRI) findings in a group of patients with DPHL and review the available literature. Methods Retrospective case series including patients who presented with neurological and/or psychiatric symptoms after recovery from an acute hypoxic episode. The history and clinical presentation were reviewed from the electronic medical records. MRI scans were evaluated from the picture archiving and communication system. We performed a comprehensive review of the English medical literature for prior published cases of DPHL and describe the key imaging findings that have been reported related to this condition. Results A total of five patients were identified, including four patients with respiratory failure due to drug overdoses from benzodiazepines, opioids, and/or barbiturates, and one patient who presented after cardiopulmonary arrest due to pulmonary embolism. All patients showed diffuse, extensive, and confluent white matter signal abnormalities including prominent restricted diffusion, extending to the subcortical white matter and respecting the U-fibers. There was no gyral edema or contrast enhancement. In one case histopathology was available, which highlighted patchy subcortical myelin loss with sparing of U-fibers and demonstrated prominent macrophage/microglial inflammation with extensive axonal damage. Of the other four patients, two were at their neurological baselines and two had persistent neurological deficits at the time of discharge. Conclusions The described constellation of MRI findings is highly suggestive of DPHL in the appropriate clinical setting. PMID:26357591

  20. [Antimicrobial resistance testing in clinical practice].

    PubMed

    Doi, Yohei

    2012-02-01

    Previously unrecognized or underrecognized antimicrobial resistant bacteria, including NDM-1-producing Enterobacteriaceae and multidrug-resistant Acinetobacter baumannii, were recently identified in health care facilities in Japan. Vigilance in the clinical microbiology laboratory for these organisms is the key to early recognition of their emergence. Many of these organisms can be confirmed or at least suspected through routine susceptibility testing, which can then be referred to reference laboratories for further phenotypic or genetic testing. Antimicrobial resistance testing plays a crucial role in patient management, infection control and monitoring of local as well as national and international epidemiology.

  1. CT characteristics of Morel-Lavallée lesions: an under-recognized but significant finding in acute trauma imaging.

    PubMed

    McKenzie, Gavin A; Niederhauser, Blake D; Collins, Mark S; Howe, Benjamin M

    2016-08-01

    To highlight the significance and imaging characteristics of Morel-Lavallée (ML) lesions, which have been well characterized on MRI, but are potentially under-recognized on CT. Twenty-eight Morel-Lavallée lesions were identified in 18 patients and were all clinically or surgically confirmed. Lesions were grouped into acute (<3 days), subacute (3-30 days), and chronic (>30 days) at the time of CT imaging. Charts were reviewed to gather patient characteristics, injury patterns, radiologist interpretation, treatment, and outcomes. Sixteen male and 2 female patients with a mean age of 50 years (range 19-80) at the date of their initial evaluation were identified. All patients had significant trauma that accounted for 28 ML lesions, all of which were in a characteristic subcutaneous location overlying the muscular fascial plane. Lesions on CT went through an evolution from hyperdense, poorly or moderately marginated without a pseudocapsule to being hypodense, with internal fat globules or septations and well marginated with a complete enhancing pseudocapsule. Only 1 (4 %) of the ML lesions was suggested and 7 (25 %) lesions were not commented on at all by the interpreting radiologist. Morel-Lavallée lesions are post-traumatic closed, internal, soft-tissue, degloving lesions that are potentially underrecognized on CT. Most acute ML lesions are nonspecific, resembling simple hematomas or contusions. ML lesions evolve as they age with subacute and chronic lesions demonstrating the known features described on MR imaging that should allow for an accurate imaging diagnosis.

  2. Site matters: winning the hearts and minds of patients in a cardiology clinic.

    PubMed

    Annunziato, Rachel A; Rubinstein, David; Sheikh, Saqib; Maurer, Martin; Cotter, Gad; McKay, Mary M; Milo-Cotter, Olga; Gorman, Jack M; Shemesh, Eyal

    2008-01-01

    In medical care settings, mental health symptoms of depression and distress are associated with poor medical outcomes, yet they are often underrecognized. Authors sought to examine the effect of having immediate mental-health screening in the cardiology clinic. The Patient Health Questionnaire and the Impact of Event Scale were used to screen for depression and distress in 316 patients at an urban cardiology clinic. Because of poor follow-up rates, a psychiatrist was placed on the premises of the cardiology clinic to facilitate referrals. Placing a psychiatrist within the cardiology clinic significantly improved the rate of successful referrals. Because 45 patients (14%) endorsed suicidal thoughts, authors conclude that mental health screening programs should include an immediate evaluation by a clinician.

  3. Pathogenesis and Management of Sarcopenia.

    PubMed

    Dhillon, Robinder J S; Hasni, Sarfaraz

    2017-02-01

    Sarcopenia represents a loss of muscle strength and mass in older individuals. Sarcopenia in the elderly has now become a major focus of research and public policy debate due to its impact on morbidity, mortality, and health care expenditure. Despite its clinical importance, sarcopenia remains under-recognized and poorly managed in routine clinical practice. This is, in part, due to a lack of available diagnostic testing and uniform diagnostic criteria. The management of sarcopenia is primarily focused on physical therapy for muscle strengthening and gait training. There are no pharmacologic agents for the treatment of sarcopenia. Published by Elsevier Inc.

  4. 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

  5. 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.

  6. Vulvovaginal Graft-Versus-Host Disease.

    PubMed

    Kornik, Rachel I; Rustagi, Alison S

    2017-09-01

    Vulvovaginal chronic graft-versus-host disease (cGVHD) is an underrecognized complication of stem cell transplantation. Early recognition may prevent severe sequelae. Genital involvement is associated with oral, ocular, and skin manifestations. Treatment includes topical immunosuppression, dilator use, and adjuvant topical estrogen. Clinical and histologic features may mimic other inflammatory vulvar conditions. In the right clinical context, these findings are diagnostic of chronic GVHD. Female recipients of allo-hematopoietic stem cell transplantation (HCT) are at higher risk of condylomas, cervical dysplasia, and neoplasia. The National Institutes of Health publishes guidelines for the diagnosis, grading, management, and supportive care for HCT patients by organ system. Copyright © 2017 Elsevier Inc. All rights reserved.

  7. Ontology-based reusable clinical document template production system.

    PubMed

    Nam, Sejin; Lee, Sungin; Kim, James G Boram; Kim, Hong-Gee

    2012-01-01

    Clinical documents embody professional clinical knowledge. This paper shows an effective clinical document template (CDT) production system that uses a clinical description entity (CDE) model, a CDE ontology, and a knowledge management system called STEP that manages ontology-based clinical description entities. The ontology represents CDEs and their inter-relations, and the STEP system stores and manages CDE ontology-based information regarding CDTs. The system also provides Web Services interfaces for search and reasoning over clinical entities. The system was populated with entities and relations extracted from 35 CDTs that were used in admission, discharge, and progress reports, as well as those used in nursing and operation functions. A clinical document template editor is shown that uses STEP.

  8. Lysosomal acid lipase deficiency--an under-recognized cause of dyslipidaemia and liver dysfunction.

    PubMed

    Reiner, Željko; Guardamagna, Ornella; Nair, Devaki; Soran, Handrean; Hovingh, Kees; Bertolini, Stefano; Jones, Simon; Ćorić, Marijana; Calandra, Sebastiano; Hamilton, John; Eagleton, Terence; Ros, Emilio

    2014-07-01

    Lysosomal acid lipase deficiency (LAL-D) is a rare autosomal recessive lysosomal storage disease caused by deleterious mutations in the LIPA gene. The age at onset and rate of progression vary greatly and this may relate to the nature of the underlying mutations. Patients presenting in infancy have the most rapidly progressive disease, developing signs and symptoms in the first weeks of life and rarely surviving beyond 6 months of age. Children and adults typically present with some combination of dyslipidaemia, hepatomegaly, elevated transaminases, and microvesicular hepatosteatosis on biopsy. Liver damage with progression to fibrosis, cirrhosis and liver failure occurs in a large proportion of patients. Elevated low-density lipoprotein cholesterol levels and decreased high-density lipoprotein cholesterol levels are common features, and cardiovascular disease may manifest as early as childhood. Given that these clinical manifestations are shared with other cardiovascular, liver and metabolic diseases, it is not surprising that LAL-D is under-recognized in clinical practice. This article provides practical guidance to lipidologists, endocrinologists, cardiologists and hepatologists on how to recognize individuals with this life-limiting disease. A diagnostic algorithm is proposed with a view to achieving definitive diagnosis using a recently developed blood test for lysosomal acid lipase. Finally, current management options are reviewed in light of the ongoing development of enzyme replacement therapy with sebelipase alfa (Synageva BioPharma Corp., Lexington, MA, USA), a recombinant human lysosomal acid lipase enzyme. Copyright © 2014 The Authors. Published by Elsevier Ireland Ltd.. All rights reserved.

  9. Secondary hemophagocytic lymphohistiocytosis in the setting of metastatic renal cell carcinoma: a case report.

    PubMed

    El-Masry, Monica; Eisenbud, Lauren; Tran, Minh-Ha

    2017-03-02

    Hemophagocytic lymphohistiocytosis is a disease process characterized by unregulated hyperactivation of the immune system associated with multiorgan involvement and high mortality rates. Early recognition is crucial and a recently validated diagnostic schema, the H-Score, may facilitate diagnosis particularly in secondary hemophagocytic lymphohistiocytosis cases. We present a patient with secondary hemophagocytic lymphohistiocytosis in association with metastatic renal cell carcinoma in whom high-dose steroid therapy induced a remarkable response. A 35-year-old Vietnamese man with quiescent systemic lupus erythematosus was diagnosed 5 months prior to admission with left-sided renal cell carcinoma metastatic to the pancreas and spine. Ten days prior to admission, a febrile illness (temperatures to 39 °C) associated with flu-like symptoms unresponsive to levofloxacin developed. He took only two doses of pazopanib prior to admission. High fevers unresponsive to antimicrobial therapy, cytopenias, disseminated intravascular coagulation, and progressive multiorgan failure led to intubation and intensive care unit stay. Extensive infectious disease workup showed only negative results, but elevation of interleukin-2 receptor, exceedingly high ferritin levels and other features earned an H-Score of 302, consistent with >99% diagnostic probability for secondary hemophagocytic lymphohistiocytosis. High-dose steroid therapy produced a rapid clinical and biochemical response. Hemophagocytic lymphohistiocytosis is a life-threatening disorder which is likely to be under-recognized. Increased awareness of this disease entity and its diagnosis is crucial toward early recognition and treatment. To our knowledge, our patient is only the second reported with secondary hemophagocytic lymphohistiocytosis occurring in the setting of renal cell carcinoma.

  10. Bilateral perisylvian ulegyria: an under-recognized, surgically remediable epileptic syndrome.

    PubMed

    Schilling, Lucas P; Kieling, Renata R; Pascoal, Tharick A; Kim, Hyoung-Ihl; Lee, Min Cheol; Kim, Yun Hee; Paglioli, Eliseu; Neto, Pedro R; Costa, Jaderson C; Palmini, Andre

    2013-08-01

    Interest in the association of epilepsy and pseudobulbar palsy was rekindled since the identification through magnetic resonance imaging (MRI) of bilateral perisylvian polymicrogyria (PMG). Seizures are often intractable, but resective epilepsy surgery has not been recommended. However, a similar clinical picture can be encountered in patients with bilateral perisylvian destructive lesions, which fit the description of ulegyria (ULG). We report a series of patients with epilepsy and pseudobulbar palsy due to bilateral perisylvian ULG (BP-ULG), show that hippocampal sclerosis (HS) is often associated and highlight the fact that in this entity, unlike in malformative bilateral perisylvian PMG, seizures may be surgically treated. The motor, cognitive, epileptologic, and imaging features of 12 patients with perisylvian ULG followed at three institutions are described. For patients with refractory seizures, we detail extracranial and intracranial electrographic recordings, surgical strategies, histopathologic analyses of the resected tissue, and outcome of surgical treatment. Descriptive statistics were used for quantitative and categorical variables. Student's t-test was used to compare means, and a p < 0.05 was considered significant. Pseudobulbar palsy and mental retardation were present in all patients with symmetrical BP-ULG. Five had refractory seizures. There was no relationship between the severity of the pseudobulbar palsy or of the mental retardation and the degree of seizure control with medication. The five patients in whom seizures were refractory to medication had significantly earlier age of onset and longer duration of epilepsy (p < 0.05). Dual pathology with associated unilateral HS was present in four. One patient with dual pathology had a temporolimbic electroclinical picture and had an anterior temporal lobectomy (ATL) based upon noninvasive evaluation. The other four had ictal semiology suggesting involvement of both temporolimbic and perisylvian cortex. Intracranial electroencephalography (EEG) showed concomitant seizure onset in the anterior temporal region and in the ipsilateral ULG in three of the four with dual pathology and in the ulegyric cortex in the one without HS. Resection guided by a combination of semiology, MRI, and extra and intracranial EEG led to complete seizure control in two and almost complete seizure control (Engel class II) in two other patients. The only surgical failure was an isolated ATL in a patient with dual pathology, and concomitant seizure onset in both lesions according to semiology and intracranial EEG. Our findings suggest that BP-ULG mimics the clinical features of bilateral perisylvian PMG. In patients with refractory seizures, recognition of this entity should lead to consideration of resective surgery despite the bilateral ULG. Wiley Periodicals, Inc. © 2013 International League Against Epilepsy.

  11. 42 CFR 455.101 - Definitions.

    Code of Federal Regulations, 2014 CFR

    2014-10-01

    ..., independent clinical laboratory, renal disease facility, rural health clinic, or health maintenance... specified in § 438.2. Indirect ownership interest means an ownership interest in an entity that has an ownership interest in the disclosing entity. This term includes an ownership interest in any entity that has...

  12. 42 CFR 455.101 - Definitions.

    Code of Federal Regulations, 2012 CFR

    2012-10-01

    ..., independent clinical laboratory, renal disease facility, rural health clinic, or health maintenance... specified in § 438.2. Indirect ownership interest means an ownership interest in an entity that has an ownership interest in the disclosing entity. This term includes an ownership interest in any entity that has...

  13. 42 CFR 455.101 - Definitions.

    Code of Federal Regulations, 2013 CFR

    2013-10-01

    ..., independent clinical laboratory, renal disease facility, rural health clinic, or health maintenance... specified in § 438.2. Indirect ownership interest means an ownership interest in an entity that has an ownership interest in the disclosing entity. This term includes an ownership interest in any entity that has...

  14. 42 CFR 455.101 - Definitions.

    Code of Federal Regulations, 2011 CFR

    2011-10-01

    ..., independent clinical laboratory, renal disease facility, rural health clinic, or health maintenance... specified in § 438.2. Indirect ownership interest means an ownership interest in an entity that has an ownership interest in the disclosing entity. This term includes an ownership interest in any entity that has...

  15. Massive ovarian oedema: a misleading clinical entity.

    PubMed

    Machairiotis, Nikolaos; Stylianaki, Aikaterini; Kouroutou, Paraskevi; Sarli, Polixeni; Alexiou, Nikolaos Konstantinos; Efthymiou, Elias; Maras, Athanasios; Alexiou, Nikolaos Georgios; Nikolaou, Spyridon Evaggelos; Courcoutsakis, Nikolaos; Papakonstantinou, Eleni; Zarogoulidis, Paul; Barbetakis, Nikolaos; Paliouras, Dimitrios; Gogakos, Apostolos; Machairiotis, Christodoulos

    2016-02-03

    Massive ovarian oedema is a rare non-neoplastic clinicopathologic entity has a higher incidence in women during their second and third life decade. The oedema can be presented in one or both ovaries as a result of partial intermittent torsion of the ovarian pedicle that interferes to the venal and lymphatic drainage of the ovary. We present a clinical case of a 16 year old with massive ovarian oedema and we performed a review of the literature. The pathophysiology of this entity is very complex. We tried to perform a complete review of the literature and focus on the complexity of this entity as far as its pathophysiological backround is concerned and as far as its clinical presentation is concerned. In conclusion, massive ovarian oedema is a rare, multi disease mimicking clinical entity, with an acute or progressive clinical presentation. It has also to be a part of our differential diagnosis in cases of acute abdominal pain and we have to try to treat her conservatively, in order to preserve fertility.

  16. Evolving models of the immunopathogenesis of T-cell mediated drug allergy: the role of host, pathogens, and drug response

    PubMed Central

    White, Katie D.; Chung, Wen-Hung; Hung, Shuen-Iu; Mallal, Simon; Phillips, Elizabeth J.

    2015-01-01

    Immune-mediated adverse drug reactions (IM-ADRs) are an underrecognized source of preventable morbidity, mortality, and cost. Increasingly, genetic variation in the HLA loci is associated with risk of severe reactions, highlighting the importance of T-cell immune responses in the mechanisms of both B-cell mediated and primary T-cell mediated IM-ADRs. In this review, we summarize the role of host genetics, microbes and drugs in the development of IM-ADRs, expand upon the existing models of IM-ADR pathogenesis to address multiple unexplained observations, discuss the implications of this work in clinical practice today, and describe future applications for pre-clinical drug toxicity screening, drug design, and development. PMID:26254049

  17. Current transcatheter devices to treat functional tricuspid regurgitation with discussion of issues relevant to clinical trial design

    PubMed Central

    2017-01-01

    Functional or secondary tricuspid regurgitation (TR) has seen increased attention in recent times as relationships with clinically-relevant outcomes have come to light. Despite the association of increased mortality with significant TR, the disease remains under-recognized and thus relatively untreated. In addition, the disease itself has not been extensively studied and the interactions between annular dilatation, right heart disease and pulmonary hypertension are poorly understood. However, the high mortality and recurrence rate with current surgical replacement or repair techniques is well recognised, opening the door to transcatheter therapies for functional TR. The current perspective reviews the rationale for transcatheter solutions, describes some of the current approaches and discusses the ongoing questions of a poorly-studied condition which may limit the design of clinical trials for this disease. PMID:28706866

  18. Inhalant Abuse and Dextromethorphan.

    PubMed

    Storck, Michael; Black, Laura; Liddell, Morgan

    2016-07-01

    Inhalant abuse is the intentional inhalation of a volatile substance for the purpose of achieving an altered mental state. As an important, yet underrecognized form of substance abuse, inhalant abuse crosses all demographic, ethnic, and socioeconomic boundaries, causing significant morbidity and mortality in school-aged and older children. This review presents current perspectives on epidemiology, detection, and clinical challenges of inhalant abuse and offers advice regarding the medical and mental health providers' roles in the prevention and management of this substance abuse problem. Also discussed is the misuse of a specific "over-the-counter" dissociative, dextromethorphan. Copyright © 2016 Elsevier Inc. All rights reserved.

  19. Comprehensive Approaches to Managing Delirium in Patients with Advanced Cancer

    PubMed Central

    Kang, Jung Hun; Shin, Seong Hoon; Bruera, Eduardo

    2013-01-01

    Delirium is a frequently under-recognized complication in patients with advanced cancer. Uncontrolled delirium eventually leads to significant distress to patients and their families. However, delirium episodes can be reversed in half of these patients by eliminating precipitating factors and using appropriate interventions. The purpose of this narrative review is to discuss the most recent updates in the literature on the management of delirium in patients with advanced cancer. This article addresses the epidemiology, cause, pathophysiology, clinical characteristics, and assessment of delirium as well as various treatment options, including nonpharmacologic intervention and palliative sedation. PMID:22959227

  20. Periodic limb movements and insomnia, a common but under-recognized association

    PubMed Central

    Varadharajulu, Saravanan; Chandrasekaran, Baskaran

    2015-01-01

    Periodic limb movements unlike restless leg syndrome is under diagnosed and unrecognized in medical arena. While robust Western trials have elucidated the association between periodic limb movements and sleep disturbances, it is not well received and recognized in India even in well sophisticated tertiary care hospital. We report a chronic insomnia patient who had sleep disturbances for past 30 years due to periodic limb movements alone. This was diagnosed through polysomnography. This case emphasizes monitoring leg movements during sleep study. This report may open new horizons in improving monitoring in sleep study in clinical setting. PMID:26124530

  1. Anatomical Entity Recognition with a Hierarchical Framework Augmented by External Resources

    PubMed Central

    Xu, Yan; Hua, Ji; Ni, Zhaoheng; Chen, Qinlang; Fan, Yubo; Ananiadou, Sophia; Chang, Eric I-Chao; Tsujii, Junichi

    2014-01-01

    References to anatomical entities in medical records consist not only of explicit references to anatomical locations, but also other diverse types of expressions, such as specific diseases, clinical tests, clinical treatments, which constitute implicit references to anatomical entities. In order to identify these implicit anatomical entities, we propose a hierarchical framework, in which two layers of named entity recognizers (NERs) work in a cooperative manner. Each of the NERs is implemented using the Conditional Random Fields (CRF) model, which use a range of external resources to generate features. We constructed a dictionary of anatomical entity expressions by exploiting four existing resources, i.e., UMLS, MeSH, RadLex and BodyPart3D, and supplemented information from two external knowledge bases, i.e., Wikipedia and WordNet, to improve inference of anatomical entities from implicit expressions. Experiments conducted on 300 discharge summaries showed a micro-averaged performance of 0.8509 Precision, 0.7796 Recall and 0.8137 F1 for explicit anatomical entity recognition, and 0.8695 Precision, 0.6893 Recall and 0.7690 F1 for implicit anatomical entity recognition. The use of the hierarchical framework, which combines the recognition of named entities of various types (diseases, clinical tests, treatments) with information embedded in external knowledge bases, resulted in a 5.08% increment in F1. The resources constructed for this research will be made publicly available. PMID:25343498

  2. Deep gluteal space problems: piriformis syndrome, ischiofemoral impingement and sciatic nerve release.

    PubMed

    Carro, Luis Perez; Hernando, Moises Fernandez; Cerezal, Luis; Navarro, Ivan Saenz; Fernandez, Ana Alfonso; Castillo, Alexander Ortiz

    2016-01-01

    Deep gluteal syndrome (DGS) is an underdiagnosed entity characterized by pain and/or dysesthesias in the buttock area, hip or posterior thigh and/or radicular pain due to a non-discogenic sciatic nerve entrapment in the subgluteal space. Multiple pathologies have been incorporated in this all-included "piriformis syndrome", a term that has nothing to do with the presence of fibrous bands, obturator internus/gemellus syndrome, quadratus femoris/ischiofemoral pathology, hamstring conditions, gluteal disorders and orthopedic causes. This article describes the subgluteal space anatomy, reviews known and new etiologies of DGS, and assesses the role of the radiologist and orthopaedic surgeons in the diagnosis, treatment and postoperative evaluation of sciatic nerve entrapments. DGS is an under-recognized and multifactorial pathology. The development of periarticular hip endoscopy has led to an understanding of the pathophysiological mechanisms underlying piriformis syndrome, which has supported its further classification. The whole sciatic nerve trajectory in the deep gluteal space can be addressed by an endoscopic surgical technique. Endoscopic decompression of the sciatic nerve appears useful in improving function and diminishing hip pain in sciatic nerve entrapments, but requires significant experience and familiarity with the gross and endoscopic anatomy. IV.

  3. Prevalence of neuropathic features of back pain in clinical populations: implications for the diagnostic triage paradigm.

    PubMed

    Hush, Julia M; Marcuzzi, Anna

    2012-07-01

    SUMMARY Contemporary clinical assessment of back pain is based on the diagnostic triage paradigm. The most common diagnostic classification is nonspecific back pain, considered to be of nociceptive etiology. A small proportion are diagnosed with radicular pain, of neuropathic origin. In this study we review the body of literature on the prevalence of neuropathic features of back pain, revealing that the point prevalence is 17% in primary care, 34% in mixed clinical settings and 53% in tertiary care. There is evidence that neuropathic features of back pain are not restricted to typical clinical radicular pain phenotypes and may be under-recognized, particularly in primary care. The consequence of this is that in the clinic, diagnostic triage may erroneously classify patients with nonspecific back pain or radicular pain. A promising alternative is the development of mechanism-based pain phenotyping in patients with back pain. Timely identification of contributory pain mechanisms may enable greater opportunity to select appropriate therapeutic targets and improve patient outcomes.

  4. Neuropathic low back pain in clinical practice.

    PubMed

    Baron, R; Binder, A; Attal, N; Casale, R; Dickenson, A H; Treede, R-D

    2016-07-01

    Low back pain (LBP) is one of the most common chronic pain conditions. This paper reviews the available literature on the role of neuropathic mechanisms in chronic LBP and discusses implications for its clinical management, with a particular focus on pharmacological treatments. Literature searches were performed in PubMed, key pain congresses and ProQuest Dialog to identify published evidence on neuropathic back pain and its management. All titles were assessed for relevant literature. Chronic LBP comprises both nociceptive and neuropathic components, however, the neuropathic component appears under-recognized and undertreated. Neuropathic pain (NP) is challenging to manage. Many patients with chronic LBP have pain that is refractory to existing treatments. Typically, less than half of patients experience clinically meaningful analgesia with oral pharmacotherapies; these are also associated with risks of adverse effects. Paracetamol and NSAIDs, although widely used for LBP, are unlikely to ameliorate the neuropathic component and data on the use of NP medications such as antidepressants and gabapentin/pregabalin are limited. While there is an unmet need for improved treatment options, recent data have shown tapentadol to have efficacy in the neuropathic component of LBP, and studies suggest that the capsaicin 8% patch and lidocaine 5% medicated plaster, topical analgesics available for the treatment of peripheral NP, may be a valuable additional approach for the management of neuropathic LBP. Chronic LBP often has an under-recognized neuropathic component, which can be challenging to manage, and requires improved understanding and better diagnosis and treatment. WHAT DOES THIS REVIEW ADD?: Increased recognition and improved understanding of the neuropathic component of low back pain raises the potential for the development of mechanism-based therapies. Open and retrospective studies suggest that agents like tapentadol and topical analgesics - such as the capsaicin 8% patch and the lidocaine 5% medicated plaster - may be effective options for the treatment of neuropathic low back pain in defined patient groups. © 2016 The Authors. European Journal of Pain published by John Wiley & Sons Ltd on behalf of European Pain Federation - EFIC®.

  5. 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 the approaches used for English are also suitable for Swedish clinical text. However, a small proportion of the errors made by the model are less likely to occur in English text, showing that results might be improved by further tailoring the system to clinical Swedish. The entity recognition results for the individual entities Disorder and Finding show that it is meaningful to separate the general category Medical Problem into these two more granular entity types, e.g. for knowledge mining of co-morbidity relations and disorder-finding relations. Copyright © 2014 The Authors. Published by Elsevier Inc. All rights reserved.

  6. 5 CFR 890.1003 - Definitions.

    Code of Federal Regulations, 2012 CFR

    2012-01-01

    ... a physician, hospital, clinic, or other individual or entity that, directly or indirectly, furnishes... Administrative Personnel OFFICE OF PERSONNEL MANAGEMENT (CONTINUED) CIVIL SERVICE REGULATIONS (CONTINUED) FEDERAL... and equipment; and hospitals, clinics, or other institutional entities that furnish supplies and...

  7. 5 CFR 890.1003 - Definitions.

    Code of Federal Regulations, 2014 CFR

    2014-01-01

    ... a physician, hospital, clinic, or other individual or entity that, directly or indirectly, furnishes... Administrative Personnel OFFICE OF PERSONNEL MANAGEMENT (CONTINUED) CIVIL SERVICE REGULATIONS (CONTINUED) FEDERAL... and equipment; and hospitals, clinics, or other institutional entities that furnish supplies and...

  8. 5 CFR 890.1003 - Definitions.

    Code of Federal Regulations, 2011 CFR

    2011-01-01

    ... a physician, hospital, clinic, or other individual or entity that, directly or indirectly, furnishes... Administrative Personnel OFFICE OF PERSONNEL MANAGEMENT (CONTINUED) CIVIL SERVICE REGULATIONS (CONTINUED) FEDERAL... and equipment; and hospitals, clinics, or other institutional entities that furnish supplies and...

  9. 5 CFR 890.1003 - Definitions.

    Code of Federal Regulations, 2013 CFR

    2013-01-01

    ... a physician, hospital, clinic, or other individual or entity that, directly or indirectly, furnishes... Administrative Personnel OFFICE OF PERSONNEL MANAGEMENT (CONTINUED) CIVIL SERVICE REGULATIONS (CONTINUED) FEDERAL... and equipment; and hospitals, clinics, or other institutional entities that furnish supplies and...

  10. Use of antidepressants for major depressive disorder in children and adolescents: clinical considerations.

    PubMed

    Picouto, María Dolores; Braquehais, María Dolores

    2013-01-01

    Major depressive disorder (MDD) is a frequent condition among children and, especially, among adolescents. However, its clinical presentation usually differs from that of adults. It is also associated with other diagnoses and with an increased morbidity and mortality. However, MDD in this population remains underrecognized and undertreated. Antidepressants (ATDs) are chosen when psychoeducational, psychosocial and/or psychotherapeutic approaches have failed. ATDs are generally used in severe cases, and are always combined with psychological treatments. The objective of this work is to discuss the role of ATD in child and adolescent MDD. We focus on the recommendations of the most cited and updated clinical guidelines and discuss some controversial aspects with regards efficacy and safety issues that have been raised based on the information obtained from clinical trials. Finally, we offer some practical recommendations for clinicians. All these findings also pose some doubt on the hypothesis of MDD as a homogeneous phenomenon during the human life cycle.

  11. Unsupervised Biomedical Named Entity Recognition: Experiments with Clinical and Biological Texts

    PubMed Central

    Zhang, Shaodian; Elhadad, Nóemie

    2013-01-01

    Named entity recognition is a crucial component of biomedical natural language processing, enabling information extraction and ultimately reasoning over and knowledge discovery from text. Much progress has been made in the design of rule-based and supervised tools, but they are often genre and task dependent. As such, adapting them to different genres of text or identifying new types of entities requires major effort in re-annotation or rule development. In this paper, we propose an unsupervised approach to extracting named entities from biomedical text. We describe a stepwise solution to tackle the challenges of entity boundary detection and entity type classification without relying on any handcrafted rules, heuristics, or annotated data. A noun phrase chunker followed by a filter based on inverse document frequency extracts candidate entities from free text. Classification of candidate entities into categories of interest is carried out by leveraging principles from distributional semantics. Experiments show that our system, especially the entity classification step, yields competitive results on two popular biomedical datasets of clinical notes and biological literature, and outperforms a baseline dictionary match approach. Detailed error analysis provides a road map for future work. PMID:23954592

  12. Chasing the Mirage: a grounded theory of the clinical reasoning processes that Registered Nurses use to recognize delirium.

    PubMed

    El Hussein, Mohamed; Hirst, Sandra

    2016-02-01

    The aim of this study was to construct a grounded theory that explains the clinical reasoning processes that registered nurses use to recognize delirium in older adults in acute care hospitals. Delirium is under-recognized in acute hospital settings, this may stem from underdeveloped clinical reasoning processes. Little is known about registered nurses' (RNs) clinical reasoning processes in complex situations such as delirium recognition. A grounded theory approach was used to analyse interview data about the clinical reasoning processes of RNs in acute hospital settings. Seventeen RNs were recruited. Concurrent data collection and comparative analysis and theoretical sampling were conducted in 2013-2014. The core category to emerge from the data was 'chasing the mirage', which describes RNs' clinical reasoning processes to recognize delirium during their interaction with older adults. Understanding the reasoning that contributes to delirium under-recognition provides a strategy by which, this problem can be brought to the forefront of RNs' awareness and intervention. Delirium recognition will contribute to quality care for older adults. © 2015 John Wiley & Sons Ltd.

  13. A study of machine-learning-based approaches to extract clinical entities and their assertions from discharge summaries.

    PubMed

    Jiang, Min; Chen, Yukun; Liu, Mei; Rosenbloom, S Trent; Mani, Subramani; Denny, Joshua C; Xu, Hua

    2011-01-01

    The authors' goal was to develop and evaluate machine-learning-based approaches to extracting clinical entities-including medical problems, tests, and treatments, as well as their asserted status-from hospital discharge summaries written using natural language. This project was part of the 2010 Center of Informatics for Integrating Biology and the Bedside/Veterans Affairs (VA) natural-language-processing challenge. The authors implemented a machine-learning-based named entity recognition system for clinical text and systematically evaluated the contributions of different types of features and ML algorithms, using a training corpus of 349 annotated notes. Based on the results from training data, the authors developed a novel hybrid clinical entity extraction system, which integrated heuristic rule-based modules with the ML-base named entity recognition module. The authors applied the hybrid system to the concept extraction and assertion classification tasks in the challenge and evaluated its performance using a test data set with 477 annotated notes. Standard measures including precision, recall, and F-measure were calculated using the evaluation script provided by the Center of Informatics for Integrating Biology and the Bedside/VA challenge organizers. The overall performance for all three types of clinical entities and all six types of assertions across 477 annotated notes were considered as the primary metric in the challenge. Systematic evaluation on the training set showed that Conditional Random Fields outperformed Support Vector Machines, and semantic information from existing natural-language-processing systems largely improved performance, although contributions from different types of features varied. The authors' hybrid entity extraction system achieved a maximum overall F-score of 0.8391 for concept extraction (ranked second) and 0.9313 for assertion classification (ranked fourth, but not statistically different than the first three systems) on the test data set in the challenge.

  14. 42 CFR 420.201 - Definitions.

    Code of Federal Regulations, 2014 CFR

    2014-10-01

    ... provider of services, an independent clinical laboratory, a renal disease facility, a rural health clinic..., common supporting staff, or common equipment). Indirect ownership interest means any ownership interest in an entity that has an ownership interest in the disclosing entity. The term includes an ownership...

  15. 42 CFR 420.201 - Definitions.

    Code of Federal Regulations, 2012 CFR

    2012-10-01

    ... provider of services, an independent clinical laboratory, a renal disease facility, a rural health clinic..., common supporting staff, or common equipment). Indirect ownership interest means any ownership interest in an entity that has an ownership interest in the disclosing entity. The term includes an ownership...

  16. 42 CFR 420.201 - Definitions.

    Code of Federal Regulations, 2013 CFR

    2013-10-01

    ... provider of services, an independent clinical laboratory, a renal disease facility, a rural health clinic..., common supporting staff, or common equipment). Indirect ownership interest means any ownership interest in an entity that has an ownership interest in the disclosing entity. The term includes an ownership...

  17. Named Entity Recognition in Chinese Clinical Text Using Deep Neural Network.

    PubMed

    Wu, Yonghui; Jiang, Min; Lei, Jianbo; Xu, Hua

    2015-01-01

    Rapid growth in electronic health records (EHRs) use has led to an unprecedented expansion of available clinical data in electronic formats. However, much of the important healthcare information is locked in the narrative documents. Therefore Natural Language Processing (NLP) technologies, e.g., Named Entity Recognition that identifies boundaries and types of entities, has been extensively studied to unlock important clinical information in free text. In this study, we investigated a novel deep learning method to recognize clinical entities in Chinese clinical documents using the minimal feature engineering approach. We developed a deep neural network (DNN) to generate word embeddings from a large unlabeled corpus through unsupervised learning and another DNN for the NER task. The experiment results showed that the DNN with word embeddings trained from the large unlabeled corpus outperformed the state-of-the-art CRF's model in the minimal feature engineering setting, achieving the highest F1-score of 0.9280. Further analysis showed that word embeddings derived through unsupervised learning from large unlabeled corpus remarkably improved the DNN with randomized embedding, denoting the usefulness of unsupervised feature learning.

  18. Addressing Low Literacy and Health Literacy in Clinical Oncology Practice

    PubMed Central

    Garcia, Sofia F.; Hahn, Elizabeth A.; Jacobs, Elizabeth A.

    2011-01-01

    Low functional literacy and low health literacy continue to be under-recognized and are associated with poorer patient health outcomes. Health literacy is a dynamic state influenced by how well a healthcare system delivers information and services that match patients’ abilities, needs and preferences. Oncology care poses considerable health literacy demands on patients who are expected to process high stakes information about complex multidisciplinary treatment over lengths of time. Much of the information provided to patients in clinical care and research is beyond their literacy levels. In this paper, we provide an overview of currently available guidelines and resources to improve how the needs of patients with diverse literacy skills are met by cancer care providers and clinics. We present recommendations for health literacy assessment in clinical practice and ways to enhance the usability of health information and services by improving written materials and verbal communication, incorporating multimedia and culturally appropriate approaches, and promoting health literacy in cancer care settings. The paper also includes a list of additional resources that can be used to develop and implement health literacy initiatives in cancer care clinics. PMID:20464884

  19. Deep gluteal space problems: piriformis syndrome, ischiofemoral impingement and sciatic nerve release

    PubMed Central

    Carro, Luis Perez; Hernando, Moises Fernandez; Cerezal, Luis; Navarro, Ivan Saenz; Fernandez, Ana Alfonso; Castillo, Alexander Ortiz

    2016-01-01

    Summary Background Deep gluteal syndrome (DGS) is an underdiagnosed entity characterized by pain and/or dysesthesias in the buttock area, hip or posterior thigh and/or radicular pain due to a non-discogenic sciatic nerve entrapment in the subgluteal space. Multiple pathologies have been incorporated in this all-included “piriformis syndrome”, a term that has nothing to do with the presence of fibrous bands, obturator internus/gemellus syndrome, quadratus femoris/ischiofemoral pathology, hamstring conditions, gluteal disorders and orthopedic causes. Methods This article describes the subgluteal space anatomy, reviews known and new etiologies of DGS, and assesses the role of the radiologist and orthopaedic surgeons in the diagnosis, treatment and postoperative evaluation of sciatic nerve entrapments. Conclusion DGS is an under-recognized and multifactorial pathology. The development of periarticular hip endoscopy has led to an understanding of the pathophysiological mechanisms underlying piriformis syndrome, which has supported its further classification. The whole sciatic nerve trajectory in the deep gluteal space can be addressed by an endoscopic surgical technique. Endoscopic decompression of the sciatic nerve appears useful in improving function and diminishing hip pain in sciatic nerve entrapments, but requires significant experience and familiarity with the gross and endoscopic anatomy. Level of evidence IV. PMID:28066745

  20. Cardiac Tropism of Borrelia burgdorferi: An Autopsy Study of Sudden Cardiac Death Associated with Lyme Carditis.

    PubMed

    Muehlenbachs, Atis; Bollweg, Brigid C; Schulz, Thadeus J; Forrester, Joseph D; DeLeon Carnes, Marlene; Molins, Claudia; Ray, Gregory S; Cummings, Peter M; Ritter, Jana M; Blau, Dianna M; Andrew, Thomas A; Prial, Margaret; Ng, Dianna L; Prahlow, Joseph A; Sanders, Jeanine H; Shieh, Wun Ju; Paddock, Christopher D; Schriefer, Martin E; Mead, Paul; Zaki, Sherif R

    2016-05-01

    Fatal Lyme carditis caused by the spirochete Borrelia burgdorferi rarely is identified. Here, we describe the pathologic, immunohistochemical, and molecular findings of five case patients. These sudden cardiac deaths associated with Lyme carditis occurred from late summer to fall, ages ranged from young adult to late 40s, and four patients were men. Autopsy tissue samples were evaluated by light microscopy, Warthin-Starry stain, immunohistochemistry, and PCR for B. burgdorferi, and immunohistochemistry for complement components C4d and C9, CD3, CD79a, and decorin. Post-mortem blood was tested by serology. Interstitial lymphocytic pancarditis in a relatively characteristic road map distribution was present in all cases. Cardiomyocyte necrosis was minimal, T cells outnumbered B cells, plasma cells were prominent, and mild fibrosis was present. Spirochetes in the cardiac interstitium associated with collagen fibers and co-localized with decorin. Rare spirochetes were seen in the leptomeninges of two cases by immunohistochemistry. Spirochetes were not seen in other organs examined, and joint tissue was not available for evaluation. Although rare, sudden cardiac death caused by Lyme disease might be an under-recognized entity and is characterized by pancarditis and marked tropism of spirochetes for cardiac tissues. Published by Elsevier Inc.

  1. Eosinophilic folliculitis: an important differential diagnosis after allogeneic bone-marrow transplant.

    PubMed

    Fraser, S J; Benton, E C; Roddie, P H; Krajewski, A S; Goodlad, J R

    2009-04-01

    Eosinophilic folliculitis (EF) is a descriptive histopathological term applied to a heterogeneous group of disorders. In EF, the characteristic histopathological features are eosinophilic spongiosis and pustulosis involving the infundibular region of the hair follicle. EF may be seen in association with bacterial and fungal infection, drug reactions and haematological disorders. However, in those conditions, the histopathological changes are rarely restricted to the infundibula but in most cases include a moderate to dense perifollicular or even diffuse dermal infiltrate of lymphocytes, or eosinophilic or neutrophilic granulocytes. We present two cases of EF after mini-allogeneic bone-marrow transplantation (BMT) in order to highlight this rare and perhaps under-recognized clinical association.

  2. Successful catheter ablation of hemodynamically unstable monomorphic ventricular tachycardia in a patient with hypertrophic cardiomyopathy and apical aneurysm.

    PubMed

    Lim, Kiam-Khiang; Maron, Barry J; Knight, Bradley P

    2009-04-01

    Patients with hypertrophic cardiomyopathy (HCM) and left ventricular (LV) apical aneurysm represent a previously under-recognized but important subgroup within this heterogeneous disease spectrum. Apical aneurysms and the contiguous areas of myocardial fibrosis have been associated with monomorphic ventricular tachycardia (VT) and increased risk for adverse clinical events including sudden cardiac death, prioritizing the application of primary prevention implantable defibrillators. However, VT may be repetitive, thereby raising considerations for additional treatment strategies such as radiofrequency ablation. In this report, we describe such a patient with HCM and apical aneurysm in whom the mapping and ablation procedure was effective in identifying and abolishing the VT focus.

  3. Cerebrovascular Manifestations of Neurosarcoidosis: An Underrecognized Aspect of the Imaging Spectrum.

    PubMed

    Bathla, G; Watal, P; Gupta, S; Nagpal, P; Mohan, S; Moritani, T

    2017-12-28

    Involvement of the central nervous system by sarcoidosis, also referred to as neurosarcoidosis, is seen clinically in about 5% of patients with systemic disease. CNS involvement most frequently affects the leptomeninges and cranial nerves, though the ventricular system, brain parenchyma, and pachymeninges may also be involved. Even though the involvement of the intracranial vascular structures is well-known on postmortem studies, there is scant literature on imaging manifestations secondary to the vessel wall involvement, being confined mostly to isolated case reports and small series. The authors present a review of various cerebrovascular manifestations of neurosarcoidosis, along with a brief synopsis of the existing literature. © 2018 by American Journal of Neuroradiology.

  4. Two rare entities in the same palate lesion: hyalinizing-type clear cell carcinoma and necrotizing sialometaplasia.

    PubMed

    Arpaci, Rabia Bozdoğan; Kara, Tuba; Porgali, Canan; Serinsoz, Ebru; Polat, Ayse; Vayisoglu, Yusuf; Ozcan, Cengiz

    2014-05-01

    Hyalinizing clear cell carcinoma is a low-grade malignant epithelial neoplasm of the salivary glands. The tumor has epithelial cells and lacks myoepithelial cells. Necrotizing sialometaplasia is a benign, self-limiting lesion of the salivary glands. The clinical and histologic features mimic those of mucoepidermoid carcinoma or squamous cell carcinoma. The importance of these entities are the rarity of both of them and their potential to be misdiagnosed as other lesions. Pathologists and clinicians should be aware of these entities to prevent misdiagnosis. This is the first clinical report of 2 rare and consecutive different entities of the same location on the hard palate to our knowledge.

  5. Respiratory dyskinesia--an under-recognized side-effect of neuroleptic medications.

    PubMed

    Bhimanil, Mukesh Mohan; Bhimani, Mukesh; Khan, Murad Moosa; Khan, Muhammad Faheem Ashraf; Waris, Muhammad Shiraz

    2011-09-01

    Respiratory dyskinesia is an under-recognized side effect of neuroleptic administration. There are only few studies that have addressed the prevalence of respiratory dyskinesia in patients with tardive dyskinesia. Our case report highlights the need to regularly examine patients on antipsychotics for any evidence of dyskinetic movements including respiratory musculature. Since RD is underrecognized and misdiagnosed, early detection can improve long term prognosis as treatment options are few and usually of only limited effect. A 62-year-old Asian male, retired civil engineer, had more than 20 years history of depressive illness, developed antidepressant induced hypomania, and was given risperidone upto 1 mg per day. He developed extrapyrmidal side effects as tremors, rigidity and later dyskinetic movements of lips with shortness of breathing, dyspnoea, grunting or gasping. He was referred to the pulmonologist who got the neccessary medical work up done, which was normal. A diagnosis of respiratory dyskinesia was made. Respiratory dyskinesia is an under-recognised and distressing condition that clinicians need to be aware of when treating patients with anti-psychotic medications. And also there is a need to regularly examine patients on antipsychotics for any evidence of dyskinetic movements including respiratory musculature for early diagnosis and better outcome. This case report also is worth reading for professionals of other specialties also because of the presentation of this patient, it can be easily misdiagnosed and result in poor outcome.

  6. Quality of life in preoperative patients with sacroiliac joint dysfunction is at least as depressed as in other lumbar spinal conditions.

    PubMed

    Cher, Daniel Joseph; Reckling, W Carlton

    2015-01-01

    Pain from the sacroiliac joint (SIJ) is an under-recognized cause of low back pain. The degree to which SIJ pain decreases quality of life has not been directly compared to other more familiar conditions of the lumbar spine. Multivariate regression analysis of individual patient data from two prospective multicenter clinical trials of SIJ fusion and three prospective multicenter clinical trials of surgical treatments for degenerative lumbar spine conditions. Controlling for baseline demographic parameters as well as a validated disability score, quality of life scores (EuroQOL 5-D and SF-36) were, in most cases, lower in the SIJ cohorts compared to the three other spine surgery cohorts. Patients with SIJ dysfunction considering surgery have decrements in quality of life as or more severe compared to patients with degenerative spondylolisthesis, spinal stenosis, and intervertebral disc herniation.

  7. Serrated pathway: Alternative route to colorectal cancer

    PubMed Central

    Patai, Árpád V; Molnár, Béla; Tulassay, Zsolt; Sipos, Ferenc

    2013-01-01

    Serrated polyps have been an area of intense focus for gastroenterologists over the past several years. Contrary to what was thought before, a growing body of literature indicates that these polyps can be precursors of colorectal cancer (CRC). Most of these lesions, particularly those in the proximal colon, have so far been under-recognized and missed during colonoscopy, qualifying these lesions to be the main cause of interval cancers. It is estimated that 10%-20% of CRCs evolve through this alternative, serrated pathway, with a distinct genetic and epigenetic profile. Aberrant DNA methylation plays a central role in the development of this CRC subtype. This characteristic molecular background is reflected in a unique pathological and clinical manifestation different from cancers arising via the traditional pathway. In this review we would like to highlight morphological, molecular and clinical features of this emerging pathway that are essential for gastroenterologists and may influence their everyday practice. PMID:23431044

  8. [Autoimmune/inflammatory syndrome induced by adjuvants. A new clinical entity?

    PubMed

    Ferrer-Cosme, Belkis; Téllez-Martínez, Damiana; Batista-Duharte, Alexander

    2017-01-01

    Recently Shoenfeld and Agmon-Levin proposed a new clinical entity called autoimmune/inflammatory syndrome induced by adjuvants (ASIA), which includes four clinical entities called: 1) siliconosis, 2) Gulf War syndrome, 3) macrophage myofasciitis) and 4) post-vaccination phenomenon associated with adjuvants. They all have a common denominator: a prior exposure to immunoadjuvants, and, in addition, they also share several clinical criteria associated to chronic inflammation and autoimmune reactions. This proposal still needs to be validated by the scientific community, but nowadays is a topic of hot discussion in the literature and in various international conferences. In this revision article, we analyze the characteristics of this syndrome, the current mechanisms possibly involved in the pathogenesis, and the more recent reports regarding ASIA associated to vaccine and some foreign substances.

  9. Advances in the understanding and clinical management of mastocytosis and clonal mast cell activation syndromes

    PubMed Central

    2016-01-01

    Clonal mast cell activation syndromes and indolent systemic mastocytosis without skin involvement are two emerging entities that sometimes might be clinically difficult to distinguish, and they involve a great challenge for the physician from both a diagnostic and a therapeutic point of view. Furthermore, final diagnosis of both entities requires a bone marrow study; it is recommended that this be done in reference centers. In this article, we address the current consensus and guidelines for the suspicion, diagnosis, classification, treatment, and management of these two entities. PMID:27909577

  10. Advances in the understanding and clinical management of mastocytosis and clonal mast cell activation syndromes.

    PubMed

    González-de-Olano, David; Matito, Almudena; Orfao, Alberto; Escribano, Luis

    2016-01-01

    Clonal mast cell activation syndromes and indolent systemic mastocytosis without skin involvement are two emerging entities that sometimes might be clinically difficult to distinguish, and they involve a great challenge for the physician from both a diagnostic and a therapeutic point of view. Furthermore, final diagnosis of both entities requires a bone marrow study; it is recommended that this be done in reference centers. In this article, we address the current consensus and guidelines for the suspicion, diagnosis, classification, treatment, and management of these two entities.

  11. Visceroptosis and the Ehlers-Danlos Syndrome.

    PubMed

    Kucera, Stephen; Sullivan, Stephen N

    2017-11-08

    The case of a patient with visceroptosis and Ehlers-Danlos syndrome hypermobility type (RDS-HT) is reported here. The literature on this unusual but probably under-recognized complication is reviewed.

  12. Genitourinary malformations: an under-recognized feature of ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome.

    PubMed

    Hyder, Zerin; Beale, Victoria; O'Connor, Ruth; Clayton-Smith, Jill

    2017-04-01

    The ectodermal dysplasia and cleft lip/palate (EEC) syndrome describes the association of ectrodactyly, ectodermal dysplasia and orofacial clefting. As with many autosomal dominant disorders, there is variability in expression and not all of these three core features are present in every individual with the condition. Moreover, there may be additional associated features, which are under-recognized. One of these is the presence of genitourinary anomalies, some of which cause significant morbidity. This report details a further two patients with EEC syndrome and genitourinary involvement, including flaccid megacystis with detrusor muscle failure, bilateral hydronephrosis and megaureter, requiring significant renal and urological involvement during their childhood. We go on to review the literature on the diagnosis and management of genitourinary malformations in EEC syndrome.

  13. Flicker illness: an underrecognized but preventable complication of helicopter transport.

    PubMed

    Cushman, Jeremy T; Floccare, Douglas J

    2007-01-01

    A case report of seizure due to photic stimulation from sunlight shining through spinning helicopter rotor blades is discussed. A review of photosensitive epilepsy is provided with particular emphasis on the effects and frequencies of photic stimulation required to induce symptoms. The frequencies of flashing light produced by spinning helicopter rotor blades commonly used in air medical transport range from 24 to 27 flashes per second. These frequencies are well within the range reported in the literature to produce symptoms in the laboratory setting. The literature provides only a few case reports of individuals sustaining a seizure after photic stimulation from spinning turboprop or helicopter blades. Symptoms range from mild discomfort and headache to profound spatial disorientation and seizures and may be an underrecognized but preventable complication of air medical transport.

  14. Heart Failure Is Common and Under-Recognized in Patients With Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia.

    PubMed

    Gilotra, Nisha A; Bhonsale, Aditya; James, Cynthia A; Te Riele, Anneline S J; Murray, Brittney; Tichnell, Crystal; Sawant, Abhishek; Ong, Chin Siang; Judge, Daniel P; Russell, Stuart D; Calkins, Hugh; Tedford, Ryan J

    2017-09-01

    Heart failure (HF) prevalence in arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) varies depending on study cohort and is not well characterized. This study sought to determine prevalence and predictors of HF in ARVC/D. Clinical HF, defined as at least 1 HF sign or symptom, was retrospectively adjudicated for 289 patients meeting ARVC/D Task Force Criteria. HF was present in 142 patients (49%): 113 had isolated RV involvement and 29 had evidence of LV dysfunction. Average age of HF onset was 40±14 years. Most commonly reported symptoms were exertional dyspnea (78%) and fatigue (73%). Only 40% (n=57/142) had signs of volume overload. Left-sided HF signs were rare. Patients with clinical HF before ARVC/D diagnosis (n=31) were older ( P =0.005) and met fewer Task Force Criteria ( P =0.013) than those who developed HF after ARVC/D presentation. Female sex (odds ratio, 2.2; 95% confidence interval, 1.21-4.01; P =0.01) and lateral precordial T-wave inversions (odds ratio, 9.87; 95% confidence interval, 1.07-91.1; P =0.043) were associated with increased odds of HF. Additionally, patients with symptomatic LV dysfunction had higher odds of lateral precordial T-wave inversions (odds ratio, 18.4; 95% confidence interval, 2.92-116.18; P =0.002). Patients with HF were more likely to undergo heart transplantation (15/142 versus 1/147; P <0.001) or die during study follow-up period (7 versus 0; P =0.007). HF symptoms, especially exertional dyspnea, are common in ARVC/D; yet, classic left-sided signs are typically absent and less than half have evidence of volume overload. Given the unique predominately right-sided phenotype, a large portion of patients with HF may be under-recognized. © 2017 American Heart Association, Inc.

  15. Thyroid functional disease: an under-recognized cardiovascular risk factor in kidney disease patients

    PubMed Central

    Rhee, Connie M.; Brent, Gregory A.; Kovesdy, Csaba P.; Soldin, Offie P.; Nguyen, Danh; Budoff, Matthew J.; Brunelli, Steven M.; Kalantar-Zadeh, Kamyar

    2015-01-01

    Thyroid functional disease, and in particular hypothyroidism, is highly prevalent among chronic kidney disease (CKD) and end-stage renal disease (ESRD) patients. In the general population, hypothyroidism is associated with impaired cardiac contractility, endothelial dysfunction, atherosclerosis and possibly higher cardiovascular mortality. It has been hypothesized that hypothyroidism is an under-recognized, modifiable risk factor for the enormous burden of cardiovascular disease and death in CKD and ESRD, but this has been difficult to test due to the challenge of accurate thyroid functional assessment in uremia. Low thyroid hormone levels (i.e. triiodothyronine) have been associated with adverse cardiovascular sequelae in CKD and ESRD patients, but these metrics are confounded by malnutrition, inflammation and comorbid states, and hence may signify nonthyroidal illness (i.e. thyroid functional test derangements associated with underlying ill health in the absence of thyroid pathology). Thyrotropin is considered a sensitive and specific thyroid function measure that may more accurately classify hypothyroidism, but few studies have examined the clinical significance of thyrotropin-defined hypothyroidism in CKD and ESRD. Of even greater uncertainty are the risks and benefits of thyroid hormone replacement, which bear a narrow therapeutic-to-toxic window and are frequently prescribed to CKD and ESRD patients. In this review, we discuss mechanisms by which hypothyroidism adversely affects cardiovascular health; examine the prognostic implications of hypothyroidism, thyroid hormone alterations and exogenous thyroid hormone replacement in CKD and ESRD; and identify areas of uncertainty related to the interplay between hypothyroidism, cardiovascular disease and kidney disease requiring further investigation. PMID:24574542

  16. Deep Granuloma Annulare Mimicking Inflamed Cysts in a Teenager.

    PubMed

    Guo, Emily L; Degesys, Catherine A; Jahan-Tigh, Richard; Chan, Audrey

    2017-07-01

    We describe deep granuloma annulare (DGA) of the forehead mimicking inflamed cysts. Reactive inflammation and sterile purulent drainage may be an underrecognized feature of DGA. © 2017 Wiley Periodicals, Inc.

  17. Cervical spondylitis and spinal abscess due to Actinomyces meyeri.

    PubMed

    Duvignaud, Alexandre; Ribeiro, Emmanuel; Moynet, Daniel; Longy-Boursier, Maïté; Malvy, Denis

    2014-01-01

    Human actinomycosis with involvement of the spine is a rare condition although it has been first described a long time ago. It is probably underrecognized since its clinical presentation is often misleading and accurate bacteriological diagnosis is challenging. We herein report a rare case of cervical actinomycosis with paravertebral abscess and spondylitis imputed to an infection by Actinomyces meyeri in a 52-year-old immunocompetent Caucasian man. A. meyeri should be considered as a potential cause for subacute or chronic spondylitis, even in immunocompetent subjects. Modern diagnostic tools such as Matrix-Assisted Laser Desorption-Ionization Time of Flight mass spectrometry and 16S rRNA sequencing are efficient for accurate microbiological identification. Copyright © 2013 Elsevier Editora Ltda. All rights reserved.

  18. Valley Fever (Coccidioidomycosis) Statistics

    MedlinePlus

    ... Valley fever may be under-recognized. 2 , 3 Public health surveillance for Valley fever Valley fever is reportable ... MMWR) . Check with your local, state, or territorial public health department for more information about disease reporting requirements ...

  19. Emerging and Underrecognized Complications of Illicit Drug Use

    PubMed Central

    Wurcel, Alysse G.; Merchant, Elisabeth A.; Clark, Roger P.; Stone, David R.

    2015-01-01

    Illicit drug use can result in a wide range of medical complications. As the availability, synthesis, and popularity of illicit drugs evolve over time, new syndromes associated with their use may mimic infections. Some of these symptoms are anticipated drug effects, and others are complications of adulterants mixed with drugs or complications from the method of using drugs. Some illicit drugs are associated with rare infections, which are difficult to diagnosis with standard microbiological techniques. The goal of this review is to orient a wide range of clinicians—including general practitioners, emergency medicine providers, and infectious diseases specialists—to complications of illicit drug use that may be underrecognized. Improving awareness of infectious and noninfectious complications of illicit drug can expedite diagnosis and medical treatment of persons who use drugs and facilitate targeted harm reduction counseling to prevent future complications. PMID:26270683

  20. Acquired bilateral telangiectatic macules: a distinct clinical entity.

    PubMed

    Park, Ji-Hye; Lee, Dong Jun; Lee, Yoo-Jung; Jang, Yong Hyun; Kang, Hee Young; Kim, You Chan

    2014-09-01

    We evaluated 13 distinct patients with multiple telangiectatic pigmented macules confined mostly to the upper arms to determine if the clinical and histopathological features of these cases might represent a specific clinical entity. We retrospectively investigated the clinical, histopathologic, and immunohistochemical features of 13 patients with multiple telangiectatic pigmented macules on the upper arms who presented between January 2003 and December 2012. Epidermal pigmentation, melanogenic activity, melanocyte number, vascularity, epidermal thickness, and perivascular mast cell number of the specimens were evaluated. Clinically, the condition favored middle-aged men. On histopathologic examination, the lesional skin showed capillary proliferation and telangiectasia in the upper dermis. Histochemical and immunohistochemical analysis revealed basal hyperpigmentation and increased melanogenic activity in the lesional skin (P < .05). No significant difference in epidermal thickness or mast cell number was observed between the normal perilesional skin and the lesional skin. The clinical and histopathologic features of these lesions were relatively consistent in all patients. In addition, the features are quite distinct from other diseases. Based on clinical and histologic features, we suggest the name acquired bilateral telangiectatic macules for this new entity.

  1. Lichen planus hypertrophicus of the vulva - a rare entity.

    PubMed

    Job, Anupa Mary; Kaimal, Sowmya

    2017-09-01

    Vulvovaginal lichen planus is a type of chronic inflammatory dermatosis of the vulva, usually seen as a part of widespread lichen planus. The common clinical types of vulval lichen planus include papulosquamous, erosive and pigmented types. Hypertrophic lichen planus of the vulva is a rare entity. We report a case of hypertrophic lichen planus of the vulva which clinically simulated genital warts.

  2. Clinical Named Entity Recognition Using Deep Learning Models.

    PubMed

    Wu, Yonghui; Jiang, Min; Xu, Jun; Zhi, Degui; Xu, Hua

    2017-01-01

    Clinical Named Entity Recognition (NER) is a critical natural language processing (NLP) task to extract important concepts (named entities) from clinical narratives. Researchers have extensively investigated machine learning models for clinical NER. Recently, there have been increasing efforts to apply deep learning models to improve the performance of current clinical NER systems. This study examined two popular deep learning architectures, the Convolutional Neural Network (CNN) and the Recurrent Neural Network (RNN), to extract concepts from clinical texts. We compared the two deep neural network architectures with three baseline Conditional Random Fields (CRFs) models and two state-of-the-art clinical NER systems using the i2b2 2010 clinical concept extraction corpus. The evaluation results showed that the RNN model trained with the word embeddings achieved a new state-of-the- art performance (a strict F1 score of 85.94%) for the defined clinical NER task, outperforming the best-reported system that used both manually defined and unsupervised learning features. This study demonstrates the advantage of using deep neural network architectures for clinical concept extraction, including distributed feature representation, automatic feature learning, and long-term dependencies capture. This is one of the first studies to compare the two widely used deep learning models and demonstrate the superior performance of the RNN model for clinical NER.

  3. Clinical Named Entity Recognition Using Deep Learning Models

    PubMed Central

    Wu, Yonghui; Jiang, Min; Xu, Jun; Zhi, Degui; Xu, Hua

    2017-01-01

    Clinical Named Entity Recognition (NER) is a critical natural language processing (NLP) task to extract important concepts (named entities) from clinical narratives. Researchers have extensively investigated machine learning models for clinical NER. Recently, there have been increasing efforts to apply deep learning models to improve the performance of current clinical NER systems. This study examined two popular deep learning architectures, the Convolutional Neural Network (CNN) and the Recurrent Neural Network (RNN), to extract concepts from clinical texts. We compared the two deep neural network architectures with three baseline Conditional Random Fields (CRFs) models and two state-of-the-art clinical NER systems using the i2b2 2010 clinical concept extraction corpus. The evaluation results showed that the RNN model trained with the word embeddings achieved a new state-of-the- art performance (a strict F1 score of 85.94%) for the defined clinical NER task, outperforming the best-reported system that used both manually defined and unsupervised learning features. This study demonstrates the advantage of using deep neural network architectures for clinical concept extraction, including distributed feature representation, automatic feature learning, and long-term dependencies capture. This is one of the first studies to compare the two widely used deep learning models and demonstrate the superior performance of the RNN model for clinical NER. PMID:29854252

  4. Epidemiology and clinical impact of major comorbidities in patients with COPD

    PubMed Central

    Smith, Miranda Caroline; Wrobel, Jeremy P

    2014-01-01

    Comorbidities are frequent in chronic obstructive pulmonary disease (COPD) and significantly impact on patients’ quality of life, exacerbation frequency, and survival. There is increasing evidence that certain diseases occur in greater frequency amongst patients with COPD than in the general population, and that these comorbidities significantly impact on patient outcomes. Although the mechanisms are yet to be defined, many comorbidities likely result from the chronic inflammatory state that is present in COPD. Common problems in the clinical management of COPD include recognizing new comorbidities, determining the impact of comorbidities on patient symptoms, the concurrent treatment of COPD and comorbidities, and accurate prognostication. The majority of comorbidities in COPD should be treated according to usual practice, and specific COPD management is infrequently altered by the presence of comorbidities. Unfortunately, comorbidities are often under-recognized and under-treated. This review focuses on the epidemiology of ten major comorbidities in patients with COPD. Further, we emphasize the clinical impact upon prognosis and management considerations. This review will highlight the importance of comorbidity identification and management in the practice of caring for patients with COPD. PMID:25210449

  5. Gene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients.

    PubMed

    Campens, Laurence; Callewaert, Bert; Muiño Mosquera, Laura; Renard, Marjolijn; Symoens, Sofie; De Paepe, Anne; Coucke, Paul; De Backer, Julie

    2015-02-03

    Heritable Thoracic Aortic Disorders (H-TAD) may present clinically as part of a syndromic entity or as an isolated (nonsyndromic) manifestation. About one dozen genes are now available for clinical molecular testing. Targeted single gene testing is hampered by significant clinical overlap between syndromic H-TAD entities and the absence of discriminating features in isolated cases. Therefore panel testing of multiple genes has now emerged as the preferred approach. So far, no data on mutation detection rate with this technique have been reported. We performed Next Generation Sequencing (NGS) based screening of the seven currently most prevalent H-TAD-associated genes (FBN1, TGFBR1/2, TGFB2, SMAD3, ACTA2 and COL3A1) on 264 samples from unrelated probands referred for H-TAD and related entities. Patients fulfilling the criteria for Marfan syndrome (MFS) were only included if targeted FBN1 sequencing and MLPA analysis were negative. A mutation was identified in 34 patients (13%): 12 FBN1, one TGFBR1, two TGFBR2, three TGFB2, nine SMAD3, four ACTA2 and three COL3A1 mutations. We found mutations in FBN1 (N = 3), TGFBR2 (N = 1) and COL3A1 (N = 2) in patients without characteristic clinical features of syndromal H-TAD. Six TAD patients harboring a mutation in SMAD3 and one TAD patient with a TGFB2 mutation fulfilled the diagnostic criteria for MFS. NGS based H-TAD panel testing efficiently reveals a mutation in 13% of patients. Our observations emphasize the clinical overlap between patients harboring mutations in syndromic and nonsyndromic H-TAD related genes as well as within syndromic H-TAD entities, justifying a widespread application of this technique.

  6. Extrapelvic endometriosis: a rare entity or an under diagnosed condition?

    PubMed Central

    2013-01-01

    Endometriosis is a clinical entity characterized by the presence of normal endometrial mucosa abnormally implanted in locations other than the uterine cavity. Endometriosis can be either endopelvic or extrapelvicdepending on the location of endometrial tissue implantation. Despite the rarity of extrapelvic endometriosis, several cases of endometriosis of the gastrointestinal tract, the urinarytract, the upper and lower respiratory system, the diaphragm, the pleura and the pericardium, as well as abdominal scars loci have been reported in the literature. There are several theories about the pathogenesis and the pathophysiology of endometriosis. Depending on the place of endometrial tissue implantation, endometriosis can be expressed with a wide variety of symptoms. The diagnosis of this entity is neither easy nor routine. Many diagnostic methods clinical and laboratory have been used, but none of them is the golden standard. The multipotent localization of endometriosis in combination with the wide range of its clinical expression should raise the clinical suspicion in every woman with periodic symptoms of extrapelvic organs. Finally, the therapeutic approach of this clinical entity is also correlated with the bulk of endometriosis and the locum that it is found. It varies from simple observation, to surgical treatment and treatment with medication as well as a combination of those. Virtual slides The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/1968087883113362. PMID:24294950

  7. [Childhood scabies: a different entity].

    PubMed

    Níguez Carbonell, J C; García-Marcos Alvarez, L; Sebastián Raz, J M; García Marcos, V; Guillén Pérez, J J

    1988-01-01

    Epidemiological, clinical, diagnostic and therapeutic aspects that make scabies a clinical entity with a special personality in the pediatric field, are reviewed. On the epidemiological aspects, a special mention of its unsuspected frequency in this age is made. Scabies is an endemic disease in our country among the more deprived people. On the clinical aspects, the great importance of clinical history and distribution of skin lesions for the early diagnosis is pointed out. Some "alert pointers" are described for this early diagnosis. On the therapeutic field, the importance of the primary care prevention is discussed, and the drug approach for its relieve is commented.

  8. Metabolic and Clinical Consequences of Hyperthyroidism on Bone Density

    PubMed Central

    Gorka, Jagoda; Taylor-Gjevre, Regina M.

    2013-01-01

    In 1891, Von Recklinghausen first established the association between the development of osteoporosis in the presence of overt hyperthyroidism. Subsequent reports have demonstrated that BMD loss is common in frank hyperthyroidism, and, to a lesser extent, in subclinical presentations. With the introduction of antithyroid medication in the 1940s to control biochemical hyperthyroidism, the accompanying bone disease became less clinically apparent as hyperthyroidism was more successfully treated medically. Consequently, the impact of the above normal thyroid hormones in the pathogenesis of osteoporosis may be presently underrecognized due to the widespread effective treatments. This review aims to present the current knowledge of the consequences of hyperthyroidism on bone metabolism. The vast number of recent papers touching on this topic highlights the recognized impact of this common medical condition on bone health. Our focus in this review was to search for answers to the following questions. What is the mechanisms of action of thyroid hormones on bone metabolism? What are the clinical consequences of hyperthyroidism on BMD and fracture risk? What differences are there between men and women with thyroid disease and how does menopause change the clinical outcomes? Lastly, we report how different treatments for hyperthyroidism benefit thyroid hormone-induced osteoporosis. PMID:23970897

  9. Treatment for Sleep Problems in Children with Autism and Caregiver Spillover Effects.

    PubMed

    Tilford, J Mick; Payakachat, Nalin; Kuhlthau, Karen A; Pyne, Jeffrey M; Kovacs, Erica; Bellando, Jayne; Williams, D Keith; Brouwer, Werner B F; Frye, Richard E

    2015-11-01

    Sleep problems in children with autism spectrum disorders (ASD) are under-recognized and under-treated. Identifying treatment value accounting for health effects on family members (spillovers) could improve the perceived cost-effectiveness of interventions to improve child sleep habits. A prospective cohort study (N = 224) was conducted with registry and postal survey data completed by the primary caregiver. We calculated quality of life outcomes for the child and the primary caregiver associated with treatments to improve sleep in the child based on prior clinical trials. Predicted treatment effects for melatonin and behavioral interventions were similar in magnitude for the child and for the caregiver. Accounting for caregiver spillover effects associated with treatments for the child with ASD increases treatment benefits and improves cost-effectiveness profiles.

  10. TREATMENT FOR SLEEP PROBLEMS IN CHILDREN WITH AUTISM AND CAREGIVER SPILLOVER EFFECTS

    PubMed Central

    Tilford, J. Mick; Payakachat, Nalin; Kuhlthau, Karen; Pyne, Jeffrey M.; Kovacs, Erica; Bellando, Jayne; Williams, D. Keith; Brouwer, Werner; Frye, Richard E.

    2015-01-01

    Sleep problems in children with autism spectrum disorders (ASD) are under-recognized and under-treated. Identifying treatment value accounting for health effects on family members (spillovers) could improve the perceived cost-effectiveness of interventions to improve child sleep habits. A prospective cohort study (N=224) was conducted with registry and postal survey data completed by the primary caregiver. We calculated quality of life outcomes for the child and the primary caregiver associated with treatments to improve sleep in the child based on prior clinical trials. Predicted treatment effects for melatonin and behavioral interventions were similar in magnitude for the child and for the caregiver. Accounting for caregiver spillover effects associated with treatments for the child with ASD increases treatment benefits and improves cost-effectiveness profiles. PMID:26126749

  11. Neuropsychiatric signs and symptoms of Alzheimer's disease: New treatment paradigms.

    PubMed

    Lanctôt, Krista L; Amatniek, Joan; Ancoli-Israel, Sonia; Arnold, Steven E; Ballard, Clive; Cohen-Mansfield, Jiska; Ismail, Zahinoor; Lyketsos, Constantine; Miller, David S; Musiek, Erik; Osorio, Ricardo S; Rosenberg, Paul B; Satlin, Andrew; Steffens, David; Tariot, Pierre; Bain, Lisa J; Carrillo, Maria C; Hendrix, James A; Jurgens, Heidi; Boot, Brendon

    2017-09-01

    Neuropsychiatric symptoms (NPSs) are hallmarks of Alzheimer's disease (AD), causing substantial distress for both people with dementia and their caregivers, and contributing to early institutionalization. They are among the earliest signs and symptoms of neurocognitive disorders and incipient cognitive decline, yet are under-recognized and often challenging to treat. With this in mind, the Alzheimer's Association convened a Research Roundtable in May 2016, bringing together experts from academia, industry, and regulatory agencies to discuss the latest understanding of NPSs and review the development of therapeutics and biomarkers of NPSs in AD. This review will explore the neurobiology of NPSs in AD and specific symptoms common in AD such as psychosis, agitation, apathy, depression, and sleep disturbances. In addition, clinical trial designs for NPSs in AD and regulatory considerations will be discussed.

  12. Cancer patients' reluctance to discuss psychological distress with their physicians was not associated with underrecognition of depression by physicians: a preliminary study.

    PubMed

    Okuyama, Toru; Endo, Chiharu; Seto, Takashi; Kato, Masashi; Seki, Nobuhiko; Akechi, Tatsuo; Furukawa, Toshiaki A; Eguchi, Kenji; Hosaka, Takashi

    2009-06-01

    To investigate the association between cancer patients' reluctance for emotional disclosure to their physician and underrecognition of depression by physicians. Randomly selected ambulatory patients with lung cancer were evaluated by the Hospital Depression and Anxiety Scale (HADS), and those with scores over the validated cutoff value for adjustment disorder or major depressive disorder were included in this analysis. The data set included the responses to the 13-item questionnaire to assess four possible concerns of patients in relation to emotional disclosure to the treating physician ("no perceived need to disclose emotions," "fear of the negative impact of emotional disclosure," "negative attitude toward emotional disclosure," "hesitation to disturb the physician with emotional disclosure"). The attending physicians rated the severity of depression in each patient using 3-point Likert scales (0 [absent] to 2 [clinical]). Depression was considered to be underrecognized when the patients had a HADS score above the cutoff value, but in whom the depression rating by the attending physician was 0. The HADS score was over the cutoff value in the 60 patients. The mean age was 65.1 +/- 10.0, and 82% had advanced cancer (Stage IIIb or IV or recurrence). Depression was underrecognized in 44 (73%) patients. None of the four factors related to reluctance for emotional disclosure was associated with the underrecognition of depression by the physicians. None of the demographic or cancer-related variables were associated with depression underrecognition by physicians. The results did not support the assumption that patients' reluctance for emotional disclosure is associated with the underrecognition of depression by physicians.

  13. Inflammatory Myofibroblastic Tumors of the Female Genital Tract Are Under-recognized

    PubMed Central

    Pickett, Justine L.; Chou, Angela; Andrici, Juliana A.; Clarkson, Adele; Sioson, Loretta; Sheen, Amy; Reagh, Jessica; Najdawi, Fedaa; Kim, Yoomee; Riley, Denise; Maidens, Jayne; Nevell, David; McIlroy, Kirsten; Valmadre, Susan; Gard, Greg; Hogg, Russell; Turchini, John; Robertson, Gregory; Friedlander, Michael

    2017-01-01

    Inflammatory myofibroblastic tumor (IMT) of the female genital tract is under-recognized. We investigated the prevalence of ALK-positive IMT in lesions previously diagnosed as gynecologic smooth muscle tumors. Immunohistochemistry (IHC) for ALK was performed on tissue microarrays of unselected tumors resected from 2009 to 2013. Three of 1176 (0.26%) “leiomyomas” and 1 of 44 (2.3%) “leiomyosarcomas” were ALK IHC positive, confirmed translocated by fluorescence in situ hybridization (FISH) and therefore more appropriately classified as IMT. On review significant areas of all 4 tumors closely mimicked smooth muscle tumors morphologically, but all showed at least subtle/focal features suggesting IMT. Recognizing that the distinction between IMT and leiomyoma/leiomyosarcoma can be subtle, we then reviewed 1 hematoxylin and eosin slide from each patient undergoing surgery for “leiomyoma” from 2014 to 2017 and selected cases for ALK IHC with a low threshold. Of these, 30 of 571 (5.3%) underwent IHC. Two were confirmed to be IHC positive and FISH rearranged. Of the 6 IMTs, only 1 tumor with a previous diagnosis of leiomyosarcoma, an infiltrative margin and equivocal necrosis, metastasized. Of note it demonstrated a less aggressive clinical course compared with most metastatic leiomyosarcomas (alive with disease at 6 y). The patient was subsequently offered crizotinib to which she responded rapidly. In conclusion, IMTs may closely mimic gynecologic smooth muscle tumors. IMTs account for at least 5 of 1747 (0.3%) tumors previously diagnosed as leiomyoma and 1 of 44 (2.3%) as leiomyosarcoma. These tumors may be recognized prospectively with awareness of subtle/focal histologic clues, coupled with a low threshold for ALK IHC. PMID:28731868

  14. Clinical issues in the treatment of anxiety and depression in older adults with Parkinson's disease.

    PubMed

    Pachana, Nancy A; Egan, Sarah J; Laidlaw, Ken; Dissanayaka, Nadeeka; Byrne, Gerard J; Brockman, Simone; Marsh, Rodney; Starkstein, Sergio

    2013-12-01

    A significant proportion of persons affected by Parkinson's disease (PD) are over age 65 years. Mental health issues are often less a focus of treatment in this population than physical manifestations of the illness. Anxiety or depression alone, as well as comorbid depression and anxiety, are underrecognized in patients with PD and are associated with deleterious effects on physical and interpersonal functioning, negatively impacting quality of life and well-being. We offer a brief overview of salient clinical points with respect to assessment and treatment approaches to enhance efficacy of the treatment of mental health symptoms in older adults with PD. Cognitive behavior therapy involves the patient learning to overcome behavioral avoidance associated with anxiety and challenge unhelpful negative cognitions. It is suggested that cognitive behavior therapy is an effective approach to treatment of anxiety and depression in PD and should be offered as a treatment to patients. © 2013 Movement Disorder Society.

  15. D-lactic acidosis: an underrecognized complication of short bowel syndrome.

    PubMed

    Kowlgi, N Gurukripa; Chhabra, Lovely

    2015-01-01

    D-lactic acidosis or D-lactate encephalopathy is a rare condition that occurs primarily in individuals who have a history of short bowel syndrome. The unabsorbed carbohydrates act as a substrate for colonic bacteria to form D-lactic acid among other organic acids. The acidic pH generated as a result of D-lactate production further propagates production of D-lactic acid, hence giving rise to a vicious cycle. D-lactic acid accumulation in the blood can cause neurologic symptoms such as delirium, ataxia, and slurred speech. Diagnosis is made by a combination of clinical and laboratory data including special assays for D-lactate. Treatment includes correcting the acidosis and decreasing substrate for D-lactate such as carbohydrates in meals. In addition, antibiotics can be used to clear colonic flora. Although newer techniques for diagnosis and treatment are being developed, clinical diagnosis still holds paramount importance, as there can be many confounders in the diagnosis as will be discussed subsequently.

  16. D-Lactic Acidosis: An Underrecognized Complication of Short Bowel Syndrome

    PubMed Central

    Kowlgi, N. Gurukripa; Chhabra, Lovely

    2015-01-01

    D-lactic acidosis or D-lactate encephalopathy is a rare condition that occurs primarily in individuals who have a history of short bowel syndrome. The unabsorbed carbohydrates act as a substrate for colonic bacteria to form D-lactic acid among other organic acids. The acidic pH generated as a result of D-lactate production further propagates production of D-lactic acid, hence giving rise to a vicious cycle. D-lactic acid accumulation in the blood can cause neurologic symptoms such as delirium, ataxia, and slurred speech. Diagnosis is made by a combination of clinical and laboratory data including special assays for D-lactate. Treatment includes correcting the acidosis and decreasing substrate for D-lactate such as carbohydrates in meals. In addition, antibiotics can be used to clear colonic flora. Although newer techniques for diagnosis and treatment are being developed, clinical diagnosis still holds paramount importance, as there can be many confounders in the diagnosis as will be discussed subsequently. PMID:25977687

  17. Common management issues in pediatric patients with mild bleeding disorders.

    PubMed

    O'Brien, Sarah H

    2012-10-01

    Type 1 von Willebrand disease and mild platelet function defects are among the most common disorders seen by pediatric hematologists. The management and prevention of bleeding in these patients can be challenging, as there are limited published data to guide clinical practice, and a complete lack of randomized clinical trials. Desmopressin (DDAVP) and antifibrinolytics are the mainstays of treatment in these patients, yet the optimal dosing and timing of these agents to prevent or resolve bleeding, while minimizing adverse side effects, is sometimes unclear. DDAVP-induced hyponatremia is a particularly under-recognized complication in children with bleeding disorders who undergo surgery. Clinicians need to be aware of local measures that are equally important in treating problems such as epistaxis and surgical bleeding. This review will discuss the published literature and provide practical suggestions regarding four common management issues in the care of children and adolescents with mild bleeding disorders: epistaxis, heavy menstrual bleeding, dental extractions, and tonsillectomy. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

  18. Unusual headache syndromes.

    PubMed

    Queiroz, Luiz P

    2013-01-01

    Some headache syndromes have few cases reported in the literature. Their clinical characteristics, pathogenesis, and treatment may have not been completely defined. They may not actually be uncommon but rather under-recognized and/or underreported. A literature review of unusual headache syndromes, searching PubMed and ISI Web of Knowledge, was performed. After deciding which disorders to study, relevant publications in scientific journals, including original articles, reviews, meeting abstracts, and letters or correspondences to the editors were searched. This paper reviewed the clinical characteristics, the pathogenesis, the diagnosis, and the treatment of five interesting and unusual headache syndromes: exploding head syndrome, red ear syndrome, neck-tongue syndrome, nummular headache, and cardiac cephalgia. Recognizing some unusual headaches, either primary or secondary, may be a challenge for many non-headache specialist physicians. It is important to study them because the correct diagnosis may result in specific treatments that may improve the quality of life of these patients, and this can even be life saving. © 2013 American Headache Society.

  19. Persistent pseudobulbar affect secondary to acute disseminated encephalomyelitis.

    PubMed

    Li, Zhendong; Luo, Shijian; Ou, Jianying; Huang, Rihe; Wang, Ying

    2015-01-01

    Pseudobulbar affect (PBA) is a common complication of central nervous system diseases such as stroke, multiple sclerosis, and other neurological diseases, but it remains under-recognized and under-treated in the clinic. PBA caused by acute disseminated encephalomyelitis (ADEM) has rarely been reported. Here, we report a 30-year-old Chinese woman who has experienced PBA from ADEM for 7 years. The patient's principal manifestations were extreme emotions or tears when she saw, heard, or spoke about sad news or other sad things; the durations of these unmanageable emotions were often less than 30 sec, and they occurred at frequencies that ranged from one to several times a day. Occasionally, she laughed uncontrollably while people were talking despite a lack of funny or sad stimuli in the conversation or the surrounding environment. Thus, her social functioning was impaired. This case indicates that the long-term PBA can occur secondarily to ADEM, and this possibility should be considered clinically to ensure timely identification and treatment.

  20. Persistent pseudobulbar affect secondary to acute disseminated encephalomyelitis

    PubMed Central

    Li, Zhendong; Luo, Shijian; Ou, Jianying; Huang, Rihe; Wang, Ying

    2015-01-01

    Pseudobulbar affect (PBA) is a common complication of central nervous system diseases such as stroke, multiple sclerosis, and other neurological diseases, but it remains under-recognized and under-treated in the clinic. PBA caused by acute disseminated encephalomyelitis (ADEM) has rarely been reported. Here, we report a 30-year-old Chinese woman who has experienced PBA from ADEM for 7 years. The patient's principal manifestations were extreme emotions or tears when she saw, heard, or spoke about sad news or other sad things; the durations of these unmanageable emotions were often less than 30 sec, and they occurred at frequencies that ranged from one to several times a day. Occasionally, she laughed uncontrollably while people were talking despite a lack of funny or sad stimuli in the conversation or the surrounding environment. Thus, her social functioning was impaired. This case indicates that the long-term PBA can occur secondarily to ADEM, and this possibility should be considered clinically to ensure timely identification and treatment. PMID:25792370

  1. [On the benefits to keep using the asperger diagnosis].

    PubMed

    Delcommenne, M; Francolini, M; Bon, O L

    The purpose of this paper is to examine the possible benefits to keep using the diagnosis of Asperger's syndrome. We first describe the evolution of this entity over time and within nomenclature bases such as the ICD- 10, the CFTMEA and the last versions of DSM. Then, we discuss more precisely the impact of the decision made in the DSM-5 to suppress the Asperger syndrome as a differentiated entity within the pervasive developmental disorders (PDD). This disorder chapter by the way also disappears and is replaced by Autism Spectrum Disorder (ASD). We present here three clinical cases encountered in an outpatient general child psychiatry clinic : 1 case was diagnosed as Asperger syndrome, 1 as infantile autism (early infantile autism) and 1 as another pervasive developmental disorder (psychotic disharmony). The objective was to expose the commonali ties and differences between these three entities. We conclude that keeping using the Asperger diagnosis is important for the clinical management of these clinical situations but also for the individual, his or her family and society at large.

  2. The Female Experience of Sibling Incest.

    ERIC Educational Resources Information Center

    Canavan, Margaret M.; And Others

    1992-01-01

    Calls occurrence of sibling incest underrecognized. Presents four cases of females who experienced sibling incest to illustrate problem areas, including issues of enforced secrecy, interpersonal power differentials, influences on sexual development, individual after effects, disturbances in family dynamics, and gender-based differences in…

  3. CDC Vital Signs: Binge Drinking a Serious, Under-Recognized Problem Among Women and Girls

    MedlinePlus

    ... Underage drinking is affected by exposure to alcohol marketing. Underage drinking is also influenced by adult drinking, ... alcohol use. Reporting on youth exposure to alcohol marketing because it influences underage drinking. We know what ...

  4. The research program coordinator: an example of effective management.

    PubMed

    Merry, Lisa; Gagnon, Anita J; Thomas, Julia

    2010-01-01

    Careers in clinical research management are increasingly common. Despite nurses' important role in clinical research, their status as research professionals is underrecognized. In this article, we describe the role of a "program coordinator" (PC) in the context of a complex research program on migration and reproductive health. The PC role expands beyond the usual role of a research coordinator because he or she is involved in all aspects of the program of research and his or her responsibilities include research, education, clinical, and administration components. He or she ensures optimal organization and continuity across several studies and ensures ethical and scientific standards are applied for each individual study. His or her clinical knowledge assures data are accurate and subjects are safe. In addition, he or she assists with applying for funding, the maintenance of research partnerships, and dissemination of research findings; he or she supports students' learning and completes all regulatory aspects related to the program of research. Key to the PC role is relationship building and the application of Good Clinical Practice principles. The advanced role of a PC also warrants opportunities for professional development and a competitive salary. A PC is an effective approach for research management and a natural role for professional nurse. Copyright 2010 Elsevier Inc. All rights reserved.

  5. Structured prediction models for RNN based sequence labeling in clinical text.

    PubMed

    Jagannatha, Abhyuday N; Yu, Hong

    2016-11-01

    Sequence labeling is a widely used method for named entity recognition and information extraction from unstructured natural language data. In clinical domain one major application of sequence labeling involves extraction of medical entities such as medication, indication, and side-effects from Electronic Health Record narratives. Sequence labeling in this domain, presents its own set of challenges and objectives. In this work we experimented with various CRF based structured learning models with Recurrent Neural Networks. We extend the previously studied LSTM-CRF models with explicit modeling of pairwise potentials. We also propose an approximate version of skip-chain CRF inference with RNN potentials. We use these methodologies for structured prediction in order to improve the exact phrase detection of various medical entities.

  6. Structured prediction models for RNN based sequence labeling in clinical text

    PubMed Central

    Jagannatha, Abhyuday N; Yu, Hong

    2016-01-01

    Sequence labeling is a widely used method for named entity recognition and information extraction from unstructured natural language data. In clinical domain one major application of sequence labeling involves extraction of medical entities such as medication, indication, and side-effects from Electronic Health Record narratives. Sequence labeling in this domain, presents its own set of challenges and objectives. In this work we experimented with various CRF based structured learning models with Recurrent Neural Networks. We extend the previously studied LSTM-CRF models with explicit modeling of pairwise potentials. We also propose an approximate version of skip-chain CRF inference with RNN potentials. We use these methodologies1 for structured prediction in order to improve the exact phrase detection of various medical entities. PMID:28004040

  7. Western European Art Foundations and Publishing

    ERIC Educational Resources Information Center

    King, Lindsay M.; Clement, Russell T.

    2011-01-01

    Western European art foundations create invaluable opportunities for research and exhibition by artists, curators, and scholars. These activities are often documented and disseminated via high-quality publications. This article highlights an important but under-recognized collecting resource for academic and museum libraries by profiling several…

  8. New Brain Tumor Entities Emerge from Molecular Classification of CNS-PNETs.

    PubMed

    Sturm, Dominik; Orr, Brent A; Toprak, Umut H; Hovestadt, Volker; Jones, David T W; Capper, David; Sill, Martin; Buchhalter, Ivo; Northcott, Paul A; Leis, Irina; Ryzhova, Marina; Koelsche, Christian; Pfaff, Elke; Allen, Sariah J; Balasubramanian, Gnanaprakash; Worst, Barbara C; Pajtler, Kristian W; Brabetz, Sebastian; Johann, Pascal D; Sahm, Felix; Reimand, Jüri; Mackay, Alan; Carvalho, Diana M; Remke, Marc; Phillips, Joanna J; Perry, Arie; Cowdrey, Cynthia; Drissi, Rachid; Fouladi, Maryam; Giangaspero, Felice; Łastowska, Maria; Grajkowska, Wiesława; Scheurlen, Wolfram; Pietsch, Torsten; Hagel, Christian; Gojo, Johannes; Lötsch, Daniela; Berger, Walter; Slavc, Irene; Haberler, Christine; Jouvet, Anne; Holm, Stefan; Hofer, Silvia; Prinz, Marco; Keohane, Catherine; Fried, Iris; Mawrin, Christian; Scheie, David; Mobley, Bret C; Schniederjan, Matthew J; Santi, Mariarita; Buccoliero, Anna M; Dahiya, Sonika; Kramm, Christof M; von Bueren, André O; von Hoff, Katja; Rutkowski, Stefan; Herold-Mende, Christel; Frühwald, Michael C; Milde, Till; Hasselblatt, Martin; Wesseling, Pieter; Rößler, Jochen; Schüller, Ulrich; Ebinger, Martin; Schittenhelm, Jens; Frank, Stephan; Grobholz, Rainer; Vajtai, Istvan; Hans, Volkmar; Schneppenheim, Reinhard; Zitterbart, Karel; Collins, V Peter; Aronica, Eleonora; Varlet, Pascale; Puget, Stephanie; Dufour, Christelle; Grill, Jacques; Figarella-Branger, Dominique; Wolter, Marietta; Schuhmann, Martin U; Shalaby, Tarek; Grotzer, Michael; van Meter, Timothy; Monoranu, Camelia-Maria; Felsberg, Jörg; Reifenberger, Guido; Snuderl, Matija; Forrester, Lynn Ann; Koster, Jan; Versteeg, Rogier; Volckmann, Richard; van Sluis, Peter; Wolf, Stephan; Mikkelsen, Tom; Gajjar, Amar; Aldape, Kenneth; Moore, Andrew S; Taylor, Michael D; Jones, Chris; Jabado, Nada; Karajannis, Matthias A; Eils, Roland; Schlesner, Matthias; Lichter, Peter; von Deimling, Andreas; Pfister, Stefan M; Ellison, David W; Korshunov, Andrey; Kool, Marcel

    2016-02-25

    Primitive neuroectodermal tumors of the central nervous system (CNS-PNETs) are highly aggressive, poorly differentiated embryonal tumors occurring predominantly in young children but also affecting adolescents and adults. Herein, we demonstrate that a significant proportion of institutionally diagnosed CNS-PNETs display molecular profiles indistinguishable from those of various other well-defined CNS tumor entities, facilitating diagnosis and appropriate therapy for patients with these tumors. From the remaining fraction of CNS-PNETs, we identify four new CNS tumor entities, each associated with a recurrent genetic alteration and distinct histopathological and clinical features. These new molecular entities, designated "CNS neuroblastoma with FOXR2 activation (CNS NB-FOXR2)," "CNS Ewing sarcoma family tumor with CIC alteration (CNS EFT-CIC)," "CNS high-grade neuroepithelial tumor with MN1 alteration (CNS HGNET-MN1)," and "CNS high-grade neuroepithelial tumor with BCOR alteration (CNS HGNET-BCOR)," will enable meaningful clinical trials and the development of therapeutic strategies for patients affected by poorly differentiated CNS tumors. Copyright © 2016 Elsevier Inc. All rights reserved.

  9. Diagnosis and Management of Behavioral Variant Frontotemporal Dementia

    PubMed Central

    Pressman, Peter; Miller, Bruce L

    2014-01-01

    Frontotemporal dementia (FTD) was documented over a century ago. The last decade, however, has seen substantial changes in our conceptions of this increasingly recognized disorder. Different clinical variants have been delineated, the most common of which is the behavioral variant (bvFTD). Updated diagnostic criteria have been established. New histopathological findings and genetic etiologies have been discovered. Research continues to uncover molecular mechanisms by which abnormal proteins accumulate in degenerating brain tissue. Novel neuroimaging techniques suggest that functional networks are diminished in bvFTD that may be relevant to empathy and social behavior. Despite rapid advances in our understanding of bvFTD, the disease is still under-recognized and commonly misdiagnosed. The result is inappropriate patient care. Recognizing the various presentations of bvFTD and its histological and genetic subtypes may further diagnosis, treatment and research. PMID:24315411

  10. Therapeutic Approach of a High Functioning Individual With Traumatic Brain Injury and Subsequent Emotional Volatility With Features of Pathological Laughter and Crying With Dextromethorphan/Quinidine.

    PubMed

    Garcia-Baran, Dynela; Johnson, Thomas M; Wagner, Joyce; Shen, Joann; Geers, Michelle

    2016-03-01

    Pathological laughing and crying, or pseudobulbar affect (PBA), has been described in patients with neurological disorders such as multiple sclerosis, amyotrophic lateral sclerosis, Alzheimer's disease, stroke, and traumatic brain injury (TBI) since the 19th century (Schiffer 2005). The syndrome is characterized by inappropriate episodes of laughing or crying after minor stimuli. It was first coined a disinhibition of cortical control by Kinnier Wilson in 1924. It was observed in brain disease and seen with mild TBI. It can impair social and occupational function and is largely underrecognized in clinical settings. PBA is usually treated with antidepressants and dopaminergic agents. In this case we treated a military recruit with TBI with Nuedexta-a dextromethorphan/Quinidine derivative with a subsequent decrease in his episodes.

  11. Therapeutic Approach of a High Functioning Individual With Traumatic Brain Injury and Subsequent Emotional Volatility With Features of Pathological Laughter and Crying With Dextromethorphan/Quinidine

    PubMed Central

    Garcia-Baran, Dynela; Johnson, Thomas M.; Wagner, Joyce; Shen, Joann; Geers, Michelle

    2016-01-01

    Abstract Pathological laughing and crying, or pseudobulbar affect (PBA), has been described in patients with neurological disorders such as multiple sclerosis, amyotrophic lateral sclerosis, Alzheimer's disease, stroke, and traumatic brain injury (TBI) since the 19th century (Schiffer 2005). The syndrome is characterized by inappropriate episodes of laughing or crying after minor stimuli. It was first coined a disinhibition of cortical control by Kinnier Wilson in 1924. It was observed in brain disease and seen with mild TBI. It can impair social and occupational function and is largely underrecognized in clinical settings. PBA is usually treated with antidepressants and dopaminergic agents. In this case we treated a military recruit with TBI with Nuedexta—a dextromethorphan/Quinidine derivative with a subsequent decrease in his episodes. PMID:27015166

  12. Dysthymic disorder: forlorn and overlooked?

    PubMed

    Sansone, Randy A; Sansone, Lori A

    2009-05-01

    This ongoing column is dedicated to the challenging clinical interface between psychiatry and primary care-two fields that are inexorably linked.Dysthymic disorder is a smoldering mood disturbance characterized by a long duration (at least two years in adults) as well as transient periods of normal mood. The disorder is fairly common in the US general population (3-6%) as well as in primary care (7%) and mental health settings (up to one-third of psychiatric outpatients). While the etiology of dysthymia remains unknown, there appears to be a genetic susceptibility, which may manifest in the presence of various psychosocial stressors. While the Diagnostic and Statistical Manual of Mental Disorders diagnostic criteria are fairly clear, the disorder can be easily under-recognized for a variety of reasons. Treatment may include pharmacotherapy and psychotherapy, although the overall treatment course is oftentimes characterized by protracted symptoms and relapses.

  13. Dysthymic Disorder

    PubMed Central

    Sansone, Lori A.

    2009-01-01

    This ongoing column is dedicated to the challenging clinical interface between psychiatry and primary care—two fields that are inexorably linked. Dysthymic disorder is a smoldering mood disturbance characterized by a long duration (at least two years in adults) as well as transient periods of normal mood. The disorder is fairly common in the US general population (3–6%) as well as in primary care (7%) and mental health settings (up to one-third of psychiatric outpatients). While the etiology of dysthymia remains unknown, there appears to be a genetic susceptibility, which may manifest in the presence of various psychosocial stressors. While the Diagnostic and Statistical Manual of Mental Disorders diagnostic criteria are fairly clear, the disorder can be easily under-recognized for a variety of reasons. Treatment may include pharmacotherapy and psychotherapy, although the overall treatment course is oftentimes characterized by protracted symptoms and relapses. PMID:19724735

  14. The Intervention Selection Bias: An Underrecognized Confound in Intervention Research

    ERIC Educational Resources Information Center

    Larzelere, Robert E.; Kuhn, Brett R.; Johnson, Byron

    2004-01-01

    Selection bias can be the most important threat to internal validity in intervention research, but is often insufficiently recognized and controlled. The bias is illustrated in research on parental interventions (punishment, homework assistance); medical interventions (hospitalization); and psychological interventions for suicide risk, sex…

  15. Fregoli Syndrome: An Underrecognized Risk Factor for Aggression in Treatment Settings

    PubMed Central

    Ashraf, Nauman; Antonius, Daniel; Sinkman, Arthur; Kleinhaus, Karine; Malaspina, Dolores

    2011-01-01

    Fregoli syndrome (FS) is commonly associated with verbal threats and aggressive behavior. We present a case of Fregoli syndrome leading to an assault. We discuss the possible underdiagnosis of FS, associated risk for aggression, and strategies to reduce that risk. PMID:22937404

  16. A woman with a dangling digit.

    PubMed

    Roesch, Alexander; Kinner, Bernd; Schaechinger, Ulrich; Obermann, Ellen C; Landthaler, Michael; Hohenleutner, Ulrich

    2007-11-01

    Ainhum (dactylolysis spontanea) is a distinct clinical and radiological disorder of dark-skinned people characterized by a progressive development of a constricting band encircling the toe which usually results in spontaneous amputation. Ainhum mainly occurs in African natives, but in times of global migration and tourism, Ainhum is likely to be more often encountered outside Africa. Even though the clinical presentation can mimic more common entities such as arthritis and trauma, the correct diagnosis and treatment is easy if one knows this unusual entity.

  17. Psychomedical care in gender identity dysphoria during adolescence.

    PubMed

    Sánchez Lorenzo, Isabel; Mora Mesa, Juan José; Oviedo de Lúcas, Olga

    In the clinical literature, the term gender dysphoria is used to define the perception of rejection that a person has to the fact of being male or female. In children and adolescents, gender identity dysphoria is a complex clinical entity. The result of entity is variable and uncertain, but in the end only a few will be transsexuals in adulthood. METHODOLOGY: RESULTS AND CONCLUSIONS. Copyright © 2015 SEP y SEPB. Publicado por Elsevier España, S.L.U. All rights reserved.

  18. [Epithelioid hemangioendothelioma: an uncommon liver tumor].

    PubMed

    Pareja, Eugenia; Cortés, Miriam; Rayon, Miguel; Moya, Angel; Mir, Jose

    2010-01-01

    We report the case of a female patient who was referred to our unit because of a solid liver tumor, suggestive of metastasis. After biopsy, the patient was diagnosed with epithelioid hemangioendothelioma of the liver. Epithelioid hemangioendothelioma is a rare entity with an unpredictable, potentially fatal, clinical course and outcome. Due to its rarity, this entity should be considered when a solitary hepatic lesion is detected and should be included in the differential diagnosis with liver metastases. We highlight the infrequency of this tumor, its presentation as a solitary hepatic lesion and the indication of surgical treatment. We describe the clinical and pathological characteristics of epithelioid hemangioendothelioma of the liver and report a new case of this entity. The distinct therapeutic options are discussed. Copyright 2010 Elsevier España, S.L. All rights reserved.

  19. Replacing Myalgic Encephalomyelitis and Chronic Fatigue Syndrome with Systemic Exercise Intolerance Disease Is Not the Way forward

    PubMed Central

    Twisk, Frank N.M.

    2016-01-01

    Myalgic encephalomyelitis (ME), described in the medical literature since 1938, is characterized by distinctive muscular symptoms, neurological symptoms, and signs of circulatory impairment. The only mandatory feature of chronic fatigue syndrome (CFS), introduced in 1988 and redefined in 1994, is chronic fatigue, which should be accompanied by at least four or more out of eight “additional” symptoms. The use of the abstract, polythetic criteria of CFS, which define a heterogeneous patient population, and self-report has hampered both scientific progress and accurate diagnosis. To resolve the “diagnostic impasse” the Institute of Medicine proposes that a new clinical entity, systemic exercise intolerance disease (SEID), should replace the clinical entities ME and CFS. However, adopting SEID and its defining symptoms, does not resolve methodological and diagnostic issues. Firstly, a new diagnostic entity cannot replace two distinct, partially overlapping, clinical entities such as ME and CFS. Secondly, due to the nature of the diagnostic criteria, the employment of self-report, and the lack of criteria to exclude patients with other conditions, the SEID criteria seem to select an even more heterogeneous patient population, causing additional diagnostic confusion. This article discusses methodological and diagnostic issues related to SEID and proposes a methodological solution for the current “diagnostic impasse”. PMID:26861399

  20. Academic Researchers Speak

    ERIC Educational Resources Information Center

    Bergom, Inger; Waltman, Jean; August, Louise; Hollenshead, Carol

    2010-01-01

    Non-tenure-track (NTT) research faculty are perhaps the most under-recognized group of academic professionals on the campuses today, despite their increasingly important role within the expanding academic research enterprise. The American Association for the Advancement of Science reports that the amount of federal spending on R&D has more than…

  1. Clinical characteristics and medication use patterns among hospitalized patients admitted with psychotic vs nonpsychotic major depressive disorder.

    PubMed

    Gaudiano, Brandon A; Weinstock, Lauren M; Epstein-Lubow, Gary; Uebelacker, Lisa A; Miller, Ivan W

    2016-02-01

    In routine practice, major depressive disorder (MDD) with psychotic features often goes under-recognized and undertreated. Previous research has specified several demographic and clinical differences in MDD patients with psychotic features compared with those without psychosis in routine outpatient practice, but there is little systematic research in modern routine hospital settings. We conducted a retrospective electronic medical records chart review of 1,314 patients diagnosed with MDD who were admitted consecutively to a major psychiatric hospital over a 1-year period. We examined the prevalence of psychotic features in the sample and investigated the differences in demographic variables, clinical characteristics, and medication use patterns among patients with and without psychosis. The prevalence of psychotic features was 13.2% in the current hospital sample. Patients with psychotic depression were more likely to be older, male, a member of a racial/ethnic minority, and have more medical comorbidities and certain Axis I disorders compared with nonpsychotic patients. In addition, patients with psychotic depression were more likely to be prescribed antipsychotics and hypnotics before admission. Several demographic and clinical characteristics differentiate MDD patients with psychosis from those without psychosis in hospital settings that may be helpful in identifying these patients. Comparisons with outpatient samples and treatments implications are discussed.

  2. A Novel Approach towards Medical Entity Recognition in Chinese Clinical Text

    PubMed Central

    Yu, Jian

    2017-01-01

    Medical entity recognition, a basic task in the language processing of clinical data, has been extensively studied in analyzing admission notes in alphabetic languages such as English. However, much less work has been done on nonstructural texts that are written in Chinese, or in the setting of differentiation of Chinese drug names between traditional Chinese medicine and Western medicine. Here, we propose a novel cascade-type Chinese medication entity recognition approach that aims at integrating the sentence category classifier from a support vector machine and the conditional random field-based medication entity recognition. We hypothesized that this approach could avoid the side effects of abundant negative samples and improve the performance of the named entity recognition from admission notes written in Chinese. Therefore, we applied this approach to a test set of 324 Chinese-written admission notes with manual annotation by medical experts. Our data demonstrated that this approach had a score of 94.2% in precision, 92.8% in recall, and 93.5% in F-measure for the recognition of traditional Chinese medicine drug names and 91.2% in precision, 92.6% in recall, and 91.7% F-measure for the recognition of Western medicine drug names. The differences in F-measure were significant compared with those in the baseline systems. PMID:29065612

  3. Identifying Liver Cancer and Its Relations with Diseases, Drugs, and Genes: A Literature-Based Approach

    PubMed Central

    Song, Min

    2016-01-01

    In biomedicine, scientific literature is a valuable source for knowledge discovery. Mining knowledge from textual data has become an ever important task as the volume of scientific literature is growing unprecedentedly. In this paper, we propose a framework for examining a certain disease based on existing information provided by scientific literature. Disease-related entities that include diseases, drugs, and genes are systematically extracted and analyzed using a three-level network-based approach. A paper-entity network and an entity co-occurrence network (macro-level) are explored and used to construct six entity specific networks (meso-level). Important diseases, drugs, and genes as well as salient entity relations (micro-level) are identified from these networks. Results obtained from the literature-based literature mining can serve to assist clinical applications. PMID:27195695

  4. Update on Exercise-Induced Asthma. A Report of the Olympic Exercise Asthma Summit Conference.

    ERIC Educational Resources Information Center

    Storms, William W.; Joyner, David M.

    1997-01-01

    Summarizes results from the Olympic Exercise Asthma Summit Conference, offering the latest on identifying and managing exercise-induced asthma (EIA). Concludes that effective pharmacologic and nonpharmacologic treatment is available, but EIA is underrecognized and underdiagnosed. Physicians should look for it in all patients, including school…

  5. Assessment of indicator bacteria and Aeromonas spp. in surface and nontraditional irrigation water: a conserve study

    USDA-ARS?s Scientific Manuscript database

    Introduction: The use of surface and nontraditional irrigation water (SNIW) (pond, tidal and non-tidal river water, reclaimed wastewater) is one way to conserve groundwater. However, SNIW may serve as reservoirs and vehicles for under-recognized enteric pathogens, spreading localized contamination d...

  6. 77 FR 34958 - Draft Guidance for Institutional Review Boards, Clinical Investigators, and Sponsors...

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-06-12

    ... the Agency considers your comment on this draft guidance before it begins work on the final version of... the regulated entities under FDA's and OHRP's jurisdiction. The Agencies wish to stress, however, that... other entities involved in the study oversight transfer process. FDA and OHRP will continue to work...

  7. 42 CFR 414.902 - Definitions.

    Code of Federal Regulations, 2013 CFR

    2013-10-01

    ... carrier means an entity assigned by CMS to process and pay claims for drugs and biologicals under the CAP... participating CAP physician, in his or her clinical judgment, to require prompt action or attention for purposes... requirements of § 414.906(e) are met. Local carrier means an entity assigned by CMS to process and pay claims...

  8. 42 CFR 414.902 - Definitions.

    Code of Federal Regulations, 2012 CFR

    2012-10-01

    ... carrier means an entity assigned by CMS to process and pay claims for drugs and biologicals under the CAP... participating CAP physician, in his or her clinical judgment, to require prompt action or attention for purposes... requirements of § 414.906(e) are met. Local carrier means an entity assigned by CMS to process and pay claims...

  9. 42 CFR 414.902 - Definitions.

    Code of Federal Regulations, 2014 CFR

    2014-10-01

    ... carrier means an entity assigned by CMS to process and pay claims for drugs and biologicals under the CAP... participating CAP physician, in his or her clinical judgment, to require prompt action or attention for purposes... requirements of § 414.906(e) are met. Local carrier means an entity assigned by CMS to process and pay claims...

  10. Kidney Stones as an Underrecognized Clinical Sign in Pediatric Cushing Disease.

    PubMed

    Rahman, Sara H; Papadakis, Georgios Z; Keil, Margaret F; Faucz, Fabio R; Lodish, Maya B; Stratakis, Constantine A

    2016-03-01

    To investigate the prevalence of kidney stones in a population of children with Cushing disease (CD) and to compare it with the prevalence of kidney stones in healthy children. Clinical and biochemical data from 139 pediatric patients with CD (68 females, 71 males) were analyzed retrospectively. Computed tomography scans were reviewed for kidney stones. Among 139 patients, 27 with CD (19.4%) had either radiographic evidence and/or a history of kidney stones. Those with kidney stones had higher urine free cortisol (P = .008) and transsphenoidal surgery at an older age (P = .007). The average urinary calcium/creatinine ratio was elevated in patients with CD (0.22 ± 0.11). The prevalence of kidney stones was higher in children with CD than in normal children (19.42% vs 1.0%; P < .001). Our results illustrate that kidney stones are an underestimated complication of pediatric CD, especially when compared with the prevalence of nephrolithiasis in the general pediatric population. Long-term consequences for kidney function are not known and need to be studied. Published by Elsevier Inc.

  11. Bayés syndrome and acute cardioembolic ischemic stroke.

    PubMed

    Arboix, Adrià; Martí, Lucía; Dorison, Sebastien; Sánchez, María José

    2017-03-16

    Bayés syndrome is an under-recognized clinical condition characterized by advanced interatrial block. Bayés syndrome is a subclinical disease that manifests electrocardiographically as a prolonged P wave duration > 120 ms with biphasic morphology ± in the inferior leads. The clinical relevance of Bayés syndrome lies in the fact that is a clear arrhythmological syndrome and has a strong association with supraventricular arrhythmias, particularly atypical atrial flutter and atrial fibrillation. Likewise, Bayés syndrome has been recently identified as a novel risk factor for non-lacunar cardioembolic ischemic stroke and vascular dementia. Advanced interatrial block can be a risk for embolic stroke due to its known sequelae of left atrial dilation, left atrial electromechanical dysfunction or atrial tachyarrhythmia (paroxysmal or persistent atrial fibrillation), conditions predisposing to thromboembolism. Bayés syndrome may be responsible for some of the unexplained ischemic strokes and shall be considered and investigated as a possible cause for cryptogenetic stroke. In summary, Bayés syndrome is a poorly recognized cardiac rhythm disorder with important cardiologic and neurologic implications.

  12. Cystic renal tumors: new entities and novel concepts.

    PubMed

    Moch, Holger

    2010-05-01

    Cystic renal neoplasms and renal epithelial stromal tumors are diagnostically challenging and represent some novel tumor entities. In this article, clinical and pathologic features of established and novel entities are discussed. Predominantly cystic renal tumors include cystic nephroma/mixed epithelial and stromal tumor, synovial sarcoma, and multilocular cystic renal cell carcinoma. These entities are own tumor entities of the 2004 WHO classification of renal tumors. Tubulocystic carcinoma and acquired cystic disease-associated renal cell carcinoma are neoplasms with an intrinsically cystic growth pattern. Both tumor types should be included in a future WHO classification as novel entities owing to their characteristic features. Cysts and clear cell renal cell carcinoma frequently coexist within the kidneys of patients with von Hippel-Lindau disease. Sporadic clear cell renal cell carcinomas often contain cysts, usually as a minor component. Some clear cell renal cell carcinomas have prominent cysts, and multilocular cystic renal cell carcinoma is composed almost exclusively of cysts. Recent molecular findings suggest that clear cell renal cancer may develop through cyst-dependent and cyst-independent molecular pathways.

  13. Role of Imaging and Cytogenetics in Evaluation of DiGeorge Syndrome - A Rare Entity in Clinical Practice.

    PubMed

    Ramachandran, Rajoo; Babu, Sellappan Rajamanickam; Ilanchezhian, Subramanian; Radhakrishnan, Prabhu Radhan

    2015-01-01

    DiGeorge syndrome is a congenital genetic disorder that affects the endocrine system, mainly the thymus and parathyroid glands. The syndrome produces different symptoms, which vary in severity and character between patients. It manifests with craniofacial dysmorphism and defects in the heart, parathyroid, and thymus. Patients can present with a palatal deformity and nasal speech. This rare entity is caused mainly due to deletion of chromosome 22q11.2. Radiographic evaluation of DiGeorge syndrome is necessary to define aberrant anatomy, evaluate central nervous system, craniofacial abnormalities, musculoskeletal system, and cardiothoracic contents. It also helps in planning surgical procedures and surgical reconstructions. We report a case of DiGeorge syndrome in a 4-month-old neonate and discuss the clinical, imaging, and cytogenetic findings that helped in the diagnosis of this rare entity.

  14. Update on Genetic Conditions Affecting the Skin and the Kidneys

    PubMed Central

    Reimer, Antonia; He, Yinghong; Has, Cristina

    2018-01-01

    Genetic conditions affecting the skin and kidney are clinically and genetically heterogeneous, and target molecular components present in both organs. The molecular pathology involves defects of cell–matrix adhesion, metabolic or signaling pathways, as well as tumor suppressor genes. This article gives a clinically oriented overview of this group of disorders, highlighting entities which have been recently described, as well as the progress made in understanding well-known entities. The genetic bases as well as molecular cell biological mechanisms are described, with therapeutic applications. PMID:29552546

  15. [Isotretinoin embryopathy: An entity that can be avoided].

    PubMed

    Cammarata-Scalisi, Francisco; Nieves, Dairelis; Avendaño, Andrea; Lacruz-Rengel, María A; Alviárez, Karelys; Dávila, Francys; Yavuz, Izzet; Callea, Michele

    2018-04-01

    Isotretinoin is the most effective drug in the treatment of severe recalcitrant nodulocystic acne. However, treatment with this drug is associated with adverse effects, the most severe being teratogenesis. It has been estimated that 40% of pregnancies exposed to isotretinoin present spontaneous abortion and 35% develop embryopathy. We present the case of a newborn with a history of prenatal exposure to isotretinoin, a clinical entity that can be avoided, with severe congenital defects in the central nervous system and important facial dysmorphisms, with unfavorable clinical course. Sociedad Argentina de Pediatría.

  16. Clinics in diagnostic imaging (178). Wünderlich syndrome and pseudoaneurysm.

    PubMed

    Chung, Raymond; Chawla, Ashish; Peh, Wilfred Cg

    2017-06-01

    Wünderlich syndrome is a rare entity characterised by spontaneous retroperitoneal haemorrhage with renal origin. We present a case of Wünderlich syndrome secondary to clotting dyscrasia in a 64-year-old woman. The patient experienced a second Wünderlich haemorrhagic event with metachronous pseudoaneurysm formation, which was likely secondary to the large subcapsular haematoma stripping the renal capsule and tearing the cortical arteries. Selective pseudoaneurysm embolisations were successfully performed on both occasions. This clinical entity, its imaging differential diagnoses and management are discussed. Copyright: © Singapore Medical Association.

  17. The clinical entity of remitting seronegative synovitis with pitting edema (RS3PE syndrome).

    PubMed

    Triplett, L M; Pfister, A K

    2001-01-01

    Remitting seronegative symmetrical synovitis with pitting edema is a clinical entity distinct from polymyalgia rheumatica arthritis appearing in elderly patients. Distal pitting edema and tenosynovitis of the digitorum tendons are characteristically seen in this disorder. In contrast to polymyalgia rheumatica and rheumatoid arthritis, treatment with low-dose glucocorticoids usually produces a prompt and enduring remission after several months. Follow-up evaluations are necessary not only to assure this diagnosis is posterior, but also to observe for the possible occurrence of associated neoplasms.

  18. Is the common cold a clinical entity or a cultural concept?

    PubMed

    Eccles, R

    2013-03-01

    Common cold is the most common infectious disease of mankind and the term is widely used in the clinical literature as though it were a defined clinical syndrome. Clinical studies on this syndrome often use elaborate symptom scoring systems to diagnose a common cold. The symptom scores are based on a study conducted over 50 years ago to retrospectively diagnose experimental cold and this method cannot be applied to diagnosis of common cold in the community. Diagnosis of the common cold by virology is not feasible because of the number of viruses and the variability in the disease states caused by the viruses. Because of the familiarity of subjects with common cold and the variability in symptomatology it seems a more reasonable approach to use self-diagnosis of common cold for clinical research studies and accept that the common cold is a cultural concept and not a clinical entity.

  19. Diagnosis and management of behavioral variant frontotemporal dementia.

    PubMed

    Pressman, Peter S; Miller, Bruce L

    2014-04-01

    Frontotemporal dementia was documented over a century ago. The last decade, however, has seen substantial changes in our conceptions of this increasingly recognized disorder. Different clinical variants have been delineated, the most common of which is the behavioral variant (bvFTD). Updated diagnostic criteria have been established. New histopathological findings and genetic etiologies have been discovered. Research continues to uncover molecular mechanisms by which abnormal proteins accumulate in degenerating brain tissue. Novel neuroimaging techniques suggest that functional networks are diminished in bvFTD that might be relevant to empathy and social behavior. Despite rapid advances in our understanding of bvFTD, the disease is still under-recognized and commonly misdiagnosed. The result is inappropriate patient care. Recognizing the various presentations of bvFTD and its histological and genetic subtypes might further diagnosis, treatment, and research. © 2013 Society of Biological Psychiatry Published by Society of Biological Psychiatry All rights reserved.

  20. Pathological Gambling: A Review of Phenomenological Models and Treatment Modalities for an Underrecognized Psychiatric Disorder

    PubMed Central

    Dannon, Pinhas N.; Lowengrub, Katherine; Gonopolski, Yehudit; Musin, Ernest; Kotler, Moshe

    2006-01-01

    Pathological gambling (PG) is a prevalent and highly disabling impulse-control disorder. Two dominant phenomenological models for PG have been presented in the literature. According to one model, PG is included as an obsessive-compulsive spectrum disorder, while according to the second model, PG represents a form of nonpharmacologic addiction. In this article, we present an expanded conceptualization of the phenomenology of PG. On the basis of our clinical research experience and a review of data in the field, we propose 3 subtypes of pathological gamblers: the “impulsive” subtype, the “obsessive-compulsive” subtype, and the “addictive” subtype. We also review the current pharmacologic and nonpharmacologic treatment strategies for PG. A further aim of this article is to encourage awareness of the importance of improved screening procedures for the early detection of PG. PMID:17245454

  1. Suicidality in Body Dysmorphic Disorder

    PubMed Central

    Phillips, Katharine A.

    2008-01-01

    Suicidal ideation, suicide attempts, and completed suicide appear common in individuals with body dysmorphic disorder (BDD). Available evidence indicates that approximately 80% of individuals with BDD experience lifetime suicidal ideation and 24% to 28% have attempted suicide. Although data on completed suicide are limited and preliminary, the suicide rate appears markedly high. These findings underscore the importance of recognizing and effectively treating BDD. However, BDD is underrecognized in clinical settings even though it is relatively common and often presents to psychiatrists and other mental health practitioners, dermatologists, surgeons, and other physicians. This article reviews available evidence on suicidality in BDD and discusses how to recognize and diagnose this often secret disorder. Efficacious treatments for BDD, ie, serotonin reuptake inhibitors (SRIs) and cognitive-behavioral therapy, are also discussed. Although data are limited, it appears that SRIs often diminish suicidality in these patients. Additional research is greatly needed on suicidality rates, characteristics, correlates, risk factors, treatment, and prevention of suicidality in BDD. PMID:18449358

  2. A Novel Electrocardiographic Sign of an ST-Segment Elevation Myocardial Infarction-Equivalent: De Winter Syndrome.

    PubMed

    Goktas, Mustafa Ugur; Sogut, Ozgur; Yigit, Mehmet; Kaplan, Onur

    2017-08-01

    Patients with de Winter syndrome, also termed anterior ST-segment elevation myocardial infarction (STEMI)-equivalent, represent 2% of all patients with acute anterior myocardial infarctions admitted to emergency departments (EDs). STEMI-equivalents do not present with classical electrocardiogram (ECG) changes but exhibit a critical stenosis of the left anterior descending (LAD) coronary artery. This is under-recognized by clinicians and is therefore associated with high morbidity and mortality. Here, we report a rare case of a novel, typical, STEMI-equivalent ECG pattern without obvious ST-segment elevation in a 34-year-old female who presented to our ED with substantial chest pain and a large, acute, transmural anterior myocardial infarction caused by acute occlusion of the LAD coronary artery. However, she presented as a non-STEMI case. A definite diagnosis of de Winter syndrome was made on the basis of clinical and ECG findings.

  3. Melorheostosis: a rare entity: a case report.

    PubMed

    Kherfani, Abdelhakim; Mahjoub, Hachem

    2014-01-01

    Melorheostosis is a rare entity belonging to the group of sclerotic bone dysplasias. Described for the first time in 1922 by Leri, it remains imperfectly known as clinical presentations are highly variable, and the etiological diagnosis is not fully elucidated. We report a case of polyostoticmelorheostosis for which radiological investigations were complete, in order to study this disease.

  4. Melorheostosis: a rare entity: a case report

    PubMed Central

    Kherfani, Abdelhakim; Mahjoub, Hachem

    2014-01-01

    Melorheostosis is a rare entity belonging to the group of sclerotic bone dysplasias. Described for the first time in 1922 by Leri, it remains imperfectly known as clinical presentations are highly variable, and the etiological diagnosis is not fully elucidated. We report a case of polyostoticmelorheostosis for which radiological investigations were complete, in order to study this disease. PMID:25489356

  5. Thoracoscopic treatment of congenital esophageal stenosis in combination with H-type tracheoesophageal fistula.

    PubMed

    van Poll, Daan; van der Zee, David C

    2012-08-01

    Congenital esophageal stenosis combined with H-type tracheoesophageal fistula is a rare clinical entity that is often not diagnosed until months or sometimes many years after birth. We present a case of a boy who presented both these entities and was treated by thoracoscopy. Copyright © 2012 Elsevier Inc. All rights reserved.

  6. [The clinical view through the Archives: the clinical notes of 2009].

    PubMed

    Samolski, Daniel; Martín Robles, Irene; Castillo Villegas, Diego

    2010-12-01

    The Clinical Notes published in 2009 serve as a resource to reflect on clinical aspects relevant to different clinical entities. Through this review an attempt is likewise made to bring the reader closer to the clinical reality of our environment. Copyright © 2010 SEPAR. Published by Elsevier Espana. All rights reserved.

  7. Naming unique entities in the semantic variant of primary progressive aphasia and Alzheimer's disease: Towards a better understanding of the semantic impairment.

    PubMed

    Montembeault, M; Brambati, S M; Joubert, S; Boukadi, M; Chapleau, M; Laforce, R Jr; Wilson, M A; Macoir, J; Rouleau, I

    2017-01-27

    While the semantic variant of primary progressive aphasia (svPPA) is characterized by a predominant semantic memory impairment, episodic memory impairments are the clinical hallmark of Alzheimer's disease (AD). However, AD patients also present with semantic deficits, which are more severe for semantically unique entities (e.g. a famous person) than for common concepts (e.g. a beaver). Previous studies in these patient populations have largely focused on famous-person naming. Therefore, we aimed to evaluate if these impairments also extend to other semantically unique entities such as famous places and famous logos. In this study, 13 AD patients, 9 svPPA patients, and 12 cognitively unimpaired elderly subjects (CTRL) were tested with a picture-naming test of non-unique entities (Boston Naming Test) and three experimental tests of semantically unique entities assessing naming of famous persons, places, and logos. Both clinical groups were overall more impaired at naming semantically unique entities than non-unique entities. Naming impairments in AD and svPPA extended to the other types of semantically unique entities, since a CTRL>AD>svPPA pattern was found on the performance of all naming tests. Naming famous places and famous persons appeared to be most impaired in svPPA, and both specific and general semantic knowledge for these entities were affected in these patients. Although AD patients were most significantly impaired on famous-person naming, only their specific semantic knowledge was impaired, while general knowledge was preserved. Post-hoc neuroimaging analyses also showed that famous-person naming impairments in AD correlated with atrophy in the temporo-parietal junction, a region functionally associated with lexical access. In line with previous studies, svPPA patients' impairment in both naming and semantic knowledge suggest a more profound semantic impairment, while naming impairments in AD may arise to a greater extent from impaired lexical access, even though semantic impairment for specific knowledge is also present. These results highlight the critical importance of developing and using a variety of semantically-unique-entity naming tests in neuropsychological assessments of patients with neurodegenerative diseases, which may unveil different patterns of lexical-semantic deficits. Copyright © 2016 Elsevier Ltd. All rights reserved.

  8. Treatment for Sleep Problems in Children with Autism and Caregiver Spillover Effects

    ERIC Educational Resources Information Center

    Tilford, J. Mick; Payakachat, Nalin; Kuhlthau, Karen A.; Pyne, Jeffrey M.; Kovacs, Erica; Bellando, Jayne; Williams, D. Keith; Brouwer, Werner B. F.; Frye, Richard E.

    2015-01-01

    Sleep problems in children with autism spectrum disorders (ASD) are under-recognized and under-treated. Identifying treatment value accounting for health effects on family members (spillovers) could improve the perceived cost-effectiveness of interventions to improve child sleep habits. A prospective cohort study (N = 224) was conducted with…

  9. Poststroke Depression: Social Workers' Role in Addressing an Underrecognized Psychological Problem for Couples Who Have Experienced Stroke

    ERIC Educational Resources Information Center

    McCarthy, Michael J.; Powers, Laurie E.; Lyons, Karen S.

    2011-01-01

    Depression is the most common psychological challenge faced by many individuals and families following stroke. Fortunately, poststroke depression is treatable, and even preventable, if social work and other rehabilitation practitioners understand the most common risk factors and become familiar with measures for assessing for depression among…

  10. Suicide Attempts among Individuals with Specific Learning Disorders: An Underrecognized Issue

    ERIC Educational Resources Information Center

    Fuller-Thomson, Esme; Carroll, Samara Z.; Yang, Wook

    2018-01-01

    Several studies have linked specific learning disorders (SLDs) with suicidal ideation, but less is known about the disorders' association with suicide attempts. This gap in the literature is addressed via the 2012 nationally representative Canadian Community Health Survey (n = 21,744). The prevalence of lifetime suicide attempts among those with…

  11. Development and Evaluation of Food Safety Modules for K-12 Science Education

    ERIC Educational Resources Information Center

    Chapin, Travis K.; Pfuntner, Rachel C.; Stasiewicz, Matthew J.; Wiedmann, Martin; Orta-Ramirez, Alicia

    2015-01-01

    Career and educational opportunities in food science and food safety are underrecognized by K-12 students and educators. Additionally, misperceptions regarding nature of science understanding persist in K-12 students despite being emphasized as an important component of science education for over 100 y. In an effort to increase awareness…

  12. The pivotal and paradoxical role of phosphorus in a resilient water-energy-food security nexus

    USDA-ARS?s Scientific Manuscript database

    We make the case that phosphorus (P) is inextricably linked to an increasingly fragile, interconnected and interdependent ‘nexus’ of water, energy, and food security. While there are many other drivers that influence water, energy, and food security, P plays a unique and under-recognized role within...

  13. [CLINICAL ENTITIES AND CHARACTERISTICS OF PAIN IN PATIENTS WITH RHEUMATIC DISEASES].

    PubMed

    Prus, Višnja; Kardum, Željka

    Musculoskeletal pain is the most common symptom present in almost all rheumatic diseases. Rheumatic diseases include more than 150 clinical entities. There is no uniform classification of rheumatic diseases. In general, we distinguish inflammatory rheumatic diseases, non-inflammatory degenerative articular diseases, systemic connective tissue diseases, metabolic disorders with articular manifestations, and regional and extended pain syndromes. According to the International Association for the Study of Pain (IASP), pain is defined as an unpleasant sensation associated with tissue damage or reported simultaneously with such damage. Pain has a physical, mental, and social component. In rheumatic diseases the pain is mostly chronic and may severely impair the patient’s general condition. The defining criteria involve a period of more than 3 or 6 months, and according to some definitions more than 6 weeks. In most cases the pain is nociceptive rather than neuropathic. Musculoskeletal pain, especially chronic pain, is a global public health problem because of its prevalence, as well as the frequently associated muslculoskeletal function impairment and development of chronic pain syndrome, which can be considered as a separate clinical entity and requires a biopsychosocial treatment approach.

  14. Idiopathic thoracic transdural intravertebral spinal cord herniation

    PubMed Central

    Turel, Mazda K; Wewel, Joshua T; Kerolus, Mena G; O'Toole, John E

    2017-01-01

    Idiopathic spinal cord herniation is a rare and often missed cause of thoracic myelopathy. The clinical presentation and radiological appearance is inconsistent and commonly confused with a dorsal arachnoid cyst and often is a misdiagnosed entity. While ventral spinal cord herniation through a dural defect has been previously described, intravertebral herniation is a distinct entity and extremely rare. We present the case of a 70-year old man with idiopathic thoracic transdural intravertebral spinal cord herniation and discuss the clinico-radiological presentation, pathophysiology and operative management along with a review the literature of this unusual entity. PMID:29021685

  15. Early- and late-onset Alzheimer disease: Are they the same entity?

    PubMed

    Tellechea, P; Pujol, N; Esteve-Belloch, P; Echeveste, B; García-Eulate, M R; Arbizu, J; Riverol, M

    2018-05-01

    Early-onset Alzheimer disease (EOAD), which presents in patients younger than 65 years, has frequently been described as having different features from those of late-onset Alzheimer disease (LOAD). This review analyses the most recent studies comparing the clinical presentation and neuropsychological, neuropathological, genetic, and neuroimaging findings of both types in order to determine whether EOAD and LOAD are different entities or distinct forms of the same entity. We observed consistent differences between clinical findings in EOAD and in LOAD. Fundamentally, the onset of EOAD is more likely to be marked by atypical symptoms, and cognitive assessments point to poorer executive and visuospatial functioning and praxis with less marked memory impairment. Alzheimer-type features will be more dense and widespread in neuropathology studies, with structural and functional neuroimaging showing greater and more diffuse atrophy extending to neocortical areas (especially the precuneus). In conclusion, available evidence suggests that EOAD and LOAD are 2 different forms of a single entity. LOAD is likely to be influenced by ageing-related processes. Copyright © 2015 Sociedad Española de Neurología. Publicado por Elsevier España, S.L.U. All rights reserved.

  16. An argument for competency-based training in pelvic floor physiotherapy practice.

    PubMed

    Frawley, Helena C; Neumann, Patricia; Delany, Clare

    2018-05-10

    Pelvic floor dysfunction has been described as "a silent epidemic," affecting many people in the community yet under-recognized and insufficiently managed. There is evidence that pelvic floor physiotherapy can manage many of these disorders, however a competency framework to guide and inform pelvic floor physiotherapy training and practice is lacking. The assessment and management of the pelvic floor complex is not addressed as a core component of most entry-to-practice physiotherapy programs despite being within the scope of physiotherapy practice which is in contrast with the knowledge and skills that physiotherapists graduate with in core areas of clinical practice. This results in a registration-competency gap, and the need for post-graduation training to ensure clinicians are appropriately skilled to practice safely and effectively in this area. In addition, there are potential ethical and legal issues unique to this area of physiotherapy practice to be considered. We use a series of clinical scenarios to highlight the domains of knowledge, skills and communication required for practice in this area, based on our experience in Australia. We propose a framework for the future which defines competence in pelvic floor physiotherapy to provide clarity to clinicians about their clinical, ethical and legal obligations to the public, our referrers and third-party payers.

  17. Hydrophilic Polymer Embolism: Implications for Manufacturing, Regulation, and Postmarket Surveillance of Coated Intravascular Medical Devices.

    PubMed

    Mehta, Rashi I; Mehta, Rupal I

    2018-03-19

    Hydrophilic polymers are ubiquitously applied as surface coatings on catheters and intravascular medical technologies. Recent clinical literature has heightened awareness on the complication of hydrophilic polymer embolism, the phenomenon wherein polymer coating layers separate from catheter and device surfaces, and may be affiliated with a range of unanticipated adverse reactions. Significant system barriers have limited and delayed reporting on this iatrogenic complication, the full effects of which remain underrecognized by healthcare providers and manufacturers of various branded devices. In 2015, the United States Food and Drug Administration acknowledged rising clinical concerns and stated that the agency would work with stakeholders to further evaluate gaps that exist in current national and international device standards for coated intravascular medical technologies. The present article reviews current knowledge on this complication as well as factors that played a role in delaying detection and dissemination of information and new knowledge once hazards and clinical risks were identified. Furthermore, organ-specific effects and adverse reaction patterns are summarized, along with implications for device manufacturing, safety assurance, and regulation. Qualitative and quantitative particulate testing are needed to optimize coated intravascular device technologies. Moreover, general enhanced processes for medical device surveillance are required for timely adverse event management and to ensure patient safety.

  18. Rhabdomyolysis featuring muscular dystrophies.

    PubMed

    Lahoria, Rajat; Milone, Margherita

    2016-02-15

    Rhabdomyolysis is a potentially life threatening condition of various etiology. The association between rhabdomyolysis and muscular dystrophies is under-recognized in clinical practice. To identify muscular dystrophies presenting with rhabdomyolysis at onset or as predominant feature. We retrospectively reviewed clinical and laboratory data of patients with a genetically confirmed muscular dystrophy in whom rhabdomyolysis was the presenting or main clinical manifestation. Thirteen unrelated patients (males=6; females=7) were identified. Median age at time of rhabdomyolysis was 18 years (range, 2-47) and median duration between the first episode of rhabdomyolysis and molecular diagnosis was 2 years. Fukutin-related protein (FKRP) muscular dystrophy (n=6) was the most common diagnosis, followed by anoctaminopathy-5 (n=3), calpainopathy-3 (n=2) and dystrophinopathy (n=2). Four patients experienced recurrent rhabdomyolysis. Eight patients were asymptomatic and 3 reported myalgia and exercise intolerance prior to the rhabdomyolysis. Exercise (n=6) and fever (n=4) were common triggers; rhabdomyolysis was unprovoked in 3 patients. Twelve patients required hospitalization. Baseline CK levels were elevated in all patients (median 1200 IU/L; range, 600-3600). Muscular dystrophies can present with rhabdomyolysis; FKRP mutations are particularly frequent in causing such complication. A persistently elevated CK level in patients with rhabdomyolysis warrants consideration for underlying muscular dystrophy. Copyright © 2015 Elsevier B.V. All rights reserved.

  19. Measuring pain in patients undergoing hemodialysis: a review of pain assessment tools

    PubMed Central

    Upadhyay, Chandani; Cameron, Karen; Murphy, Laura; Battistella, Marisa

    2014-01-01

    Background Patients undergoing hemodialysis frequently report pain with multifactorial causes, not limited to that experienced directly from hemodialysis treatment. Their pain may be nociceptive, neuropathic, somatic or visceral in nature. Despite this, pain in this population remains under-recognized and under-treated. Although several tools have been used to measure pain in patients undergoing hemodialysis as reported in the literature, none of them have been validated specifically in this population. The objective for this review was to compare and contrast these pain assessment tools and discuss their clinical utility in this patient population. Methods To identify pain assessment tools studied in patients undergoing hemodialysis, a literature search was performed in PubMed and Medline. An expert panel of dialysis and pain clinicians reviewed each tool. Each pain assessment tool was assessed on how it is administered and scored, its psychometric properties such as reliability, validity and responsiveness to change, and its clinical utility in a hemodialysis population. Brief Pain Inventory, McGill Pain Questionnaire, Pain Management Index, Edmonton Symptom Assessment System, Visual Analogue Scale and Faces Pain Scale were evaluated and compared. Results This assessment will help clinicians practicing in nephrology to determine which of these pain assessment tools is best suited for use in their individual clinical practice. PMID:25852910

  20. Experience and challenges for biologic use in the treatment of moderate-to-severe psoriasis in Africa and the Middle East region.

    PubMed

    Al Hammadi, Anwar; Al-Sheikh, Afaf; Ammoury, Alfred; Ghosn, Samer; Gisondi, Paolo; Hamadah, Issam; Kibbi, Abdul-Ghani; Shirazy, Khalid

    2017-03-01

    The incidence of psoriasis in Africa and the Middle East (AfME) is high as in other regions and represents a significant problem for both dermatologists and patients. Psoriasis co-morbidities such as obesity, cardiovascular disease and psoriatic arthritis (PsA) are also particularly common in these regions and may be under-recognized and under-treated. Despite this, regional guidelines to aid physicians on the appropriate use of biologic agents in their clinical practice are limited. A group of expert dermatologists from across the AfME region were surveyed to help establish best practice across the region, alongside supporting data from the literature. Although biologics have significantly improved patient outcomes since their introduction, the results of this survey identified several unmet needs, including the lack of consensus regarding their use in clinical practice. Discrepancy also exists among AfME physicians concerning the clinical relevance of immunogenicity to biologics, despite increasing data across inflammatory diseases. Significant treatment and management of challenges for psoriasis patients remain, and a move towards individualized, tailored care may help to address these issues. The development of specific local guidelines for the treatment of both psoriasis and PsA could also be a step towards understanding the distinct patient profiles in these regions.

  1. Orthostatic hypotension as an unusual clinical manifestation of pheochromocytoma: a case report.

    PubMed

    Bortnik, Miriam; Occhetta, Eraldo; Marino, Paolo

    2008-08-01

    Pheochromocytoma is a rare endocrine tumor which can have a highly variable presentation related to increased catecholamine secretion. We report the case of a 74-year-old man in whom recurrent episodes of syncope due to orthostatic hypotension were the only clinical manifestations of this challenging entity. Diagnosis of pheochromocytoma was achieved by biochemical test samples and computed tomography scans. Surgical excision of the tumor resulted in clinical improvement with normalization of catecholamine concentrations and no more episodes of orthostatic hypotension during a follow-up of 24 months. Although rare, pheochromocytoma may frequently cause disorders of orthostatic tolerance; because of its meaningful implications, screening for this entity should be considered in case of recurrent syncopal episodes due to new-onset orthostatic hypotension.

  2. 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.

  3. Cutaneous Manifestations of Non-Celiac Gluten Sensitivity: Clinical Histological and Immunopathological Features.

    PubMed

    Bonciolini, Veronica; Bianchi, Beatrice; Del Bianco, Elena; Verdelli, Alice; Caproni, Marzia

    2015-09-15

    The dermatological manifestations associated with intestinal diseases are becoming more frequent, especially now when new clinical entities, such as Non-Celiac Gluten Sensitivity (NCGS), are identified. The existence of this new entity is still debated. However, many patients with diagnosed NCGS that present intestinal manifestations have skin lesions that need appropriate characterization. We involved 17 patients affected by NCGS with non-specific cutaneous manifestations who got much better after a gluten free diet. For a histopathological and immunopathological evaluation, two skin samples from each patient and their clinical data were collected. The median age of the 17 enrolled patients affected by NCGS was 36 years and 76% of them were females. On the extensor surfaces of upper and lower limbs in particular, they all presented very itchy dermatological manifestations morphologically similar to eczema, psoriasis or dermatitis herpetiformis. This similarity was also confirmed histologically, but the immunopathological analysis showed the prevalence of deposits of C3 along the dermo-epidermal junction with a microgranular/granular pattern (82%). The exact characterization of new clinical entities such as Cutaneous Gluten Sensitivity and NCGS is an important objective both for diagnostic and therapeutic purposes, since these are patients who actually benefit from a GFD (Gluten Free Diet) and who do not adopt it only for fashion.

  4. Infectious shock and toxic shock syndrome diagnoses in hospitals, Colorado, USA.

    PubMed

    Smit, Michael A; Nyquist, Ann-Christine; Todd, James K

    2013-11-01

    In Colorado, USA, diagnoses coded as toxic shock syndrome (TSS) constituted 27.3% of infectious shock cases during 1993-2006. The incidence of staphylococcal TSS did not change significantly overall or in female patients 10-49 years of age but increased for streptococcal TSS. TSS may be underrecognized among all ages and both sexes.

  5. Evidence to Practice Commentary: New Evidence in Developmental Coordination Disorder (DCD)

    ERIC Educational Resources Information Center

    Novak, Iona

    2013-01-01

    Developmental coordination disorder (DCD) is frequently under-recognized, but in fact, it occurs in as many as 5-6% of children. DCD is a disorder of motor coordination that is not explained by intellectual disability or any congenital or acquired neurological disorder. Families seek physical and occupational therapy (OT) to ameliorate a child…

  6. Volatile Substance Abuse: A Review of Findings in ESPAD 2003

    ERIC Educational Resources Information Center

    Ives, Richard

    2006-01-01

    Volatile substance abuse (VSA) is an under-recognized worldwide problem. Data, especially international comparisons, are limited. The 2005 ESPAD report published data on VSA from 35 countries, collected in 2003. Lifetime prevalence of VSA can be as high as 22%, with little difference between boys and girls in most countries. Perceived risk of VSA…

  7. Musculoskeletal Injuries: Description of an Under-Recognized Injury Problem Among Military Personnel

    DTIC Science & Technology

    2010-01-01

    et al. Consensus statement on injury defınitions and data collection procedures for studies of injuries in Rugby Union . Clin J SportMed 2007;17(3):177...sports, includ- ng soccer and rugby .28–32 Although acute trauma may be a factor in some cases, any of the injury-related musculoskeletal conditions esult

  8. The Preschool Feelings Checklist: A Brief and Sensitive Screening Measure for Depression in Young Children.

    ERIC Educational Resources Information Center

    Luby, Joan L.; Heffelfinger, Amy; Koenig-McNaught, Amy L.; Brown, Kathy; Spitznagel, Edward

    2004-01-01

    Objective: Childhood depression is widely underrecognized in primary health care settings. This phenomenon appears to increase with younger age. Evidence has been provided for a valid depressive syndrome among preschool children. Based on the need for the earliest possible identification of depression, the development of a brief screening measure…

  9. Collaborative Inquiry with a Web-Based Science Learning Environment: When Teachers Enact It Differently

    ERIC Educational Resources Information Center

    Sun, Daner; Looi, Chee-Kit; Xie, Wenting

    2014-01-01

    Though discussion of the teacher factor in ICT-enabled science learning abounds in the literature, the investigation of Teacher Enactments (TEs) of ICT-facilitated lessons through exploring teaching practices is still under-explored and under-recognized. Current studies are still lacking in evidence-based findings of TEs based on the investigation…

  10. Epilepsy and Mental Retardation Limited to Females: An Under-Recognized Disorder

    ERIC Educational Resources Information Center

    Scheffer, Ingrid E.; Turner, Samantha J.; Dibbens, Leanne M.; Bayly, Marta A.; Friend, Kathryn; Hodgson, Bree; Burrows, Linda; Shaw, Marie; Wei, Chen; Ullmann, Reinhard; Ropers, Hans-Hilger; Szepetowski, Pierre; Haan, Eric; Mazarib, Aziz; Afawi, Zaid; Neufeld, Miriam Y.; Andrews, P. Ian; Wallace, Geoffrey; Kivity, Sara; Lev, Dorit; Lerman-Sagie, Tally; Derry, Christopher P.; Korczyn, Amos D.; Gecz, Jozef; Mulley, John C.; Berkovic, Samuel F.

    2008-01-01

    Epilepsy and Mental Retardation limited to Females (EFMR) which links to Xq22 has been reported in only one family. We aimed to determine if there was a distinctive phenotype that would enhance recognition of this disorder. We ascertained four unrelated families (two Australian, two Israeli) where seizures in females were transmitted through…

  11. School Nurse Interventions in Managing Functional Urinary Incontinence in School-Age Children

    ERIC Educational Resources Information Center

    Rivers, Charisse L.

    2010-01-01

    Uncomplicated urinary incontinence (UI) in school-age children is a prevalent yet underrecognized problem that has remained in the shadow of other concerns commonly perceived as more prominent or urgent. There is good evidence that functional UI in children can be treated and managed effectively. When there is no structural or neurologic…

  12. Cutaneous metastasis of transitional cell bladder carcinoma: a rare presentation and literature review.

    PubMed

    Salemis, Nikolaos S; Gakis, Christos; Zografidis, Andreas; Gourgiotis, Stavros

    2011-01-01

    Cutaneous metastasis from transitional cell bladder carcinoma is a rare clinical entity associated with poor prognosis. We present a case of cutaneous metastasis arising from a transitional cell bladder carcinoma in a male patient who had undergone a radical cystectomy and bilateral ureterostomy 17 months previously. The cutaneous metastasis became evident 3 months before the manifestations of generalized recurrent disease. An awareness of this rare clinical entity and high index of suspicion is needed to rule out metastatic spread in patients with a previous history of transitional cell bladder carcinoma presenting with cutaneous nodules. Definitive diagnosis requires a histological confirmation, but prognosis is generally poor.

  13. Unconsummated marriages: a separate and different clinical entity.

    PubMed

    Gindin, Leon Roberto; Resnicoff, Diana

    2002-01-01

    We bring our experience in the treatment of unconsummated marriages (UM). We postulate that it is an independent clinical entity. Since 1991, 199 couples with UM have sought treatment in our center in Buenos Aires. A new approach to this problem is based on an intensive treatment session that lasts a whole day and a pledge to pay only if therapy succeeds. The outcome was a success (97%) with coitus consummation. We make a long-term follow up. The advantages are the brevity of the treatment and lack of desertions. We postulate that UM cannot be approached with an individual perspective or with the usual psychotherapy techniques.

  14. Biological Gene Delivery Vehicles: Beyond Viral Vectors

    PubMed Central

    Seow, Yiqi; Wood, Matthew J

    2009-01-01

    Gene therapy covers a broad spectrum of applications, from gene replacement and knockdown for genetic or acquired diseases such as cancer, to vaccination, each with different requirements for gene delivery. Viral vectors and synthetic liposomes have emerged as the vehicles of choice for many applications today, but both have limitations and risks, including complexity of production, limited packaging capacity, and unfavorable immunological features, which restrict gene therapy applications and hold back the potential for preventive gene therapy. While continuing to improve these vectors, it is important to investigate other options, particularly nonviral biological agents which include bacteria, bacteriophage, virus-like particles (VLPs), erythrocyte ghosts, and exosomes. Exploiting the natural properties of these biological entities for specific gene delivery applications will expand the repertoire of gene therapy vectors available for clinical use. Here, we review the prospects for nonviral biological delivery vehicles as gene therapy agents with focus on their unique evolved biological properties and respective limitations and potential applications. The potential of these nonviral biological entities to act as clinical gene therapy delivery vehicles has already been shown in clinical trials using bacteria-mediated gene transfer and with sufficient development, these entities will complement the established delivery techniques for gene therapy applications. PMID:19277019

  15. Biological gene delivery vehicles: beyond viral vectors.

    PubMed

    Seow, Yiqi; Wood, Matthew J

    2009-05-01

    Gene therapy covers a broad spectrum of applications, from gene replacement and knockdown for genetic or acquired diseases such as cancer, to vaccination, each with different requirements for gene delivery. Viral vectors and synthetic liposomes have emerged as the vehicles of choice for many applications today, but both have limitations and risks, including complexity of production, limited packaging capacity, and unfavorable immunological features, which restrict gene therapy applications and hold back the potential for preventive gene therapy. While continuing to improve these vectors, it is important to investigate other options, particularly nonviral biological agents which include bacteria, bacteriophage, virus-like particles (VLPs), erythrocyte ghosts, and exosomes. Exploiting the natural properties of these biological entities for specific gene delivery applications will expand the repertoire of gene therapy vectors available for clinical use. Here, we review the prospects for nonviral biological delivery vehicles as gene therapy agents with focus on their unique evolved biological properties and respective limitations and potential applications. The potential of these nonviral biological entities to act as clinical gene therapy delivery vehicles has already been shown in clinical trials using bacteria-mediated gene transfer and with sufficient development, these entities will complement the established delivery techniques for gene therapy applications.

  16. Unstable solar lentigo: A defined separate entity.

    PubMed

    Byrom, Lisa; Barksdale, Sarah; Weedon, David; Muir, Jim

    2016-08-01

    An unstable solar lentigo is a solar lentigo with areas of melanocytic hyperplasia not extending past the margin of the lesion. They are discrete, macular, pigmented lesions arising on sun-damaged skin and a subset of typical solar lentigos. Clinically they differ from usual solar lentigines in often being solitary or larger and darker than adjacent solar lentigines. These lesions are of clinical importance as they can arise in close proximity to lentigo maligna and in a single lesion there can be demonstrated changes of solar lentigo, unstable solar lentigo and lentigo maligna. These observations led us to conjecture that unstable solar lentigos could be a precursor lesion to lentigo maligna. In this article we examine the possibility that lentigo maligna can arise within a solar lentigo through an intermediate lesion, the unstable solar lentigo. We propose that the histopathological recognition of this entity will allow for future research into its behaviour and thus management. We review difficulties in the diagnosis of single cell predominant melanocytic proliferations and the concept of unstable lentigo in view of the literature and clinical experience supporting the proposal of its recognition as a separate entity. © 2016 The Australasian College of Dermatologists.

  17. Clinical Documents: Attribute-Values Entity Representation, Context, Page Layout And Communication

    PubMed Central

    Lovis, Christian; Lamb, Alexander; Baud, Robert; Rassinoux, Anne-Marie; Fabry, Paul; Geissbühler, Antoine

    2003-01-01

    This paper presents how acquisition, storage and communication of clinical documents are implemented at the University Hospitals of Geneva. Careful attention has been given to user-interfaces, in order to support complex layouts, spell checking, templates management with automatic prefilling in order to facilitate acquisition. A dual architecture has been developed for storage using an attributes-values entity unified database and a consolidated, patient-centered, layout-respectful files-based storage, providing both representation power and sinsert (peed of accesses. This architecture allows great flexibility to store a continuum of data types from simple type values up to complex clinical reports. Finally, communication is entirely based on HTTP-XML internally and a HL-7 CDA interface V2 is currently studied for external communication. Some of the problem encountered, mostly concerning the typology of documents and the ontology of clinical attributes are evoked. PMID:14728202

  18. Early descriptions of acromegaly and gigantism and their historical evolution as clinical entities.

    PubMed

    Mammis, Antonios; Eloy, Jean Anderson; Liu, James K

    2010-10-01

    Giants have been a subject of fascination throughout history. Whereas descriptions of giants have existed in the lay literature for millennia, the first attempt at a medical description was published by Johannes Wier in 1567. However, it was Pierre Marie, in 1886, who established the term "acromegaly" for the first time and established a distinct clinical diagnosis with clear clinical descriptions in 2 patients with the characteristic presentation. Multiple autopsy findings revealed a consistent correlation between acromegaly and pituitary enlargement. In 1909, Harvey Cushing postulated a “hormone of growth" as the underlying pathophysiological trigger involved in pituitary hypersecretion in patients with acromegaly. This theory was supported by his observations of clinical remission in patients with acromegaly in whom he had performed hypophysectomy. In this paper, the authors present some of the early accounts of acromegaly and gigantism, and describe its historical evolution as a medical and surgical entity.

  19. Clinical and Microbiological Characteristics of Eggerthella lenta Bacteremia

    PubMed Central

    Tai, A. Y.; Kotsanas, D.; Francis, M. J.; Roberts, S. A.; Ballard, S. A.; Junckerstorff, R. K.; Korman, T. M.

    2014-01-01

    Eggerthella lenta is an emerging pathogen that has been underrecognized due to historical difficulties with phenotypic identification. Until now, its pathogenicity, antimicrobial susceptibility profile, and optimal treatment have been poorly characterized. In this article, we report the largest cohort of patients with E. lenta bacteremia to date and describe in detail their clinical features, microbiologic characteristics, treatment, and outcomes. We identified 33 patients; the median age was 68 years, and there was no gender predominance. Twenty-seven patients (82%) had serious intra-abdominal pathology, often requiring a medical procedure. Of those who received antibiotics (28/33, 85%), the median duration of treatment was 21.5 days. Mortality from all causes was 6% at 7 days, 12% at 30 days, and 33% at 1 year. Of 26 isolates available for further testing, all were identified as E. lenta by both commercially available matrix-assisted laser desorption ionization–time of flight mass spectrometry (MALDI-TOF MS) systems, and none were found to harbor a vanA or vanB gene. Of 23 isolates which underwent susceptibility testing, all were susceptible to amoxicillin-clavulanate, cefoxitin, metronidazole, piperacillin-tazobactam, ertapenem, and meropenem, 91% were susceptible to clindamycin, 74% were susceptible to moxifloxacin, and 39% were susceptible to penicillin. PMID:25520446

  20. Conflicts of interest: research and clinical care.

    PubMed

    Morris, John C

    1994-01-01

    Conflicts of interest and other ethical dilemmas occur in Alzheimer disease (AD) patient care and research but often are underrecognized by physicians. One or more bioethical principles of autonomy, confidentiality, truth telling, beneficence, and justice, which apply to demented individuals as they do to other patients, may conflict in everyday clinical situations. For example, when demented patients wish to continue driving, autonomy (the patient's right to self-determination) conflicts with beneficence (the duty to promote the patient's welfare). Cognitively impaired patients depend on others for ethical decision making in the resolution of these dilemmas. It is essential that clinicians and investigators involved in the decision-making process do so without bias or conflict of interest. Full disclosure of financial interests increasingly is an accepted requirement in the conduct of biomedical research. In AD, less obvious potential conflicts of interest arise when physicians recruit their patients for antidementia drug trials sponsored by a pharmaceutical company (that provides the physician with research funding) or when investigators fail to acknowledge the patient's withdrawal of assent when attempting to complete a research protocol. The recognition of both financial and nonfinancial conflicts should lead to measures to reduce bias, which in turn will improve the integrity of research findings and promote patient welfare.

  1. Impact of e-alert systems on the care of patients with acute kidney injury.

    PubMed

    Breighner, Crystal M; Kashani, Kianoush B

    2017-09-01

    With the recent advancement in electronic health record systems and meaningful use of information technology incentive programs (i.e., the American Recovery and Reinvestment Act, the Health Information Technology for Economic and Clinical Health Act, and the Centers for Medicare & Medicaid Services), interest in clinical decision support systems has risen. These systems have been used to examine a variety of different syndromes with variable reported effects. In recent years, electronic alerts (e-alerts) have been implemented at various institutions to decrease the morbidity associated with acute kidney injury (AKI). AKI is common, accounting for 1 in 7 hospital admissions, and is associated with increased length of hospital stay and mortality. AKI is often underrecognized, causing delayed intervention. The use of e-alerts may result in earlier recognition and intervention, as well as decreased morbidity and mortality. This must be balanced with the possibility of increased resource utilization that e-alerts may cause. Before widespread implementation, the ethical and legal consequences of not following e-alert recommendations must be established, and the optimal algorithm for AKI e-alert detection must be determined. Copyright © 2017 Elsevier Ltd. All rights reserved.

  2. Concomitant occurrence of macroprolactin, exercise-induced amenorrhea, and a pituitary lesion: a diagnostic pitfall. Case report.

    PubMed

    Cattaneo, F A; Fahie-Wilson, M N

    2001-08-01

    The authors report the case of a 37-year-old woman who presented with amenorrhea and an increased level of serum prolactin. Magnetic resonance images of the pituitary revealed a lesion with characteristics consistent with those of a microadenoma. Transsphenoidal exploration was performed, but a prolactinoma was not found. After endocrinological review, the patient's hyperprolactinemia was found to be caused by the presence of macroprolactin and her amenorrhea was due to intense exercise and low body weight. Macroprolactin is an isoform of prolactin that is variably reactive in assays for prolactin, but displays minimum bioactivity in vivo. Patients with macroprolactin are mostly asymptomatic. This phenomenon may cause elevated prolactin values, which the authors view as apparent hyperprolactinemia. The presence of macroprolactin is an underrecognized problem, occurring in as many as 15 to 20% of patients with elevated prolactin values and often leading to unnecessary, expensive diagnostic procedures and inappropriate treatment. The presence of macroprolactin should always be suspected when the patient's clinical history or clinical or radiological data are incompatible with the prolactin value. Physicians dealing with diagnosis and treatment of hyperprolactinemia (general practitioners, gynecologists, neurosurgeons, endocrinologists, and biochemists) should be aware of the potentially misleading nature of macroprolactin.

  3. Antigenic determinants of hepatitis E virus and vaccine-induced immunogenicity and efficacy.

    PubMed

    Zhao, Qinjian; Zhang, Jun; Wu, Ting; Li, Shao-Wei; Ng, Mun-Hon; Xia, Ning-Shao; Shih, James Wai-Kuo

    2013-02-01

    There is emerging evidence for an under-recognized hepatitis E virus (HEV) as a human pathogen. Among different reasons for this neglect are the unsatisfactory performance and under-utilization of commercial HEV diagnostic kits; for instance, the number of anti-HEV IgM kits marketed in China is about one-fifth of that of hepatitis A kits. Over the last two decades, substantial progress has been achieved in furthering our knowledge on the HEV-specific immune responses, antigenic features of HEV virions, and development of serological assays and more recently prophylactic vaccines. This review will focus on presenting the evidence of the importance of HEV infection for certain cohorts such as pregnant women, the key antigenic determinants of the virus, and immunogenicity and clinical efficacy conferred by a newly developed prophylactic vaccine. Robust immunogenicity, greater than 195-fold and approximately 50-fold increase of anti-HEV IgG level in seronegative and seropositive vaccinees, respectively, as well as impressive clinical efficacy of this vaccine was demonstrated. The protection rate against the hepatitis E disease and the virus infection was shown to be 100% (95% CI 75-100) and 78% (95% CI 66-86), respectively.

  4. Clostridium difficile infection: epidemiology, diagnosis and understanding transmission.

    PubMed

    Martin, Jessica S H; Monaghan, Tanya M; Wilcox, Mark H

    2016-04-01

    Clostridium difficile infection (CDI) continues to affect patients in hospitals and communities worldwide. The spectrum of clinical disease ranges from mild diarrhoea to toxic megacolon, colonic perforation and death. However, this bacterium might also be carried asymptomatically in the gut, potentially leading to 'silent' onward transmission. Modern technologies, such as whole-genome sequencing and multi-locus variable-number tandem-repeat analysis, are helping to track C. difficile transmission across health-care facilities, countries and continents, offering the potential to illuminate previously under-recognized sources of infection. These typing strategies have also demonstrated heterogeneity in terms of CDI incidence and strain types reflecting different stages of epidemic spread. However, comparison of CDI epidemiology, particularly between countries, is challenging due to wide-ranging approaches to sampling and testing. Diagnostic strategies for C. difficile are complicated both by the wide range of bacterial targets and tests available and the need to differentiate between toxin-producing and non-toxigenic strains. Multistep diagnostic algorithms have been recommended to improve sensitivity and specificity. In this Review, we describe the latest advances in the understanding of C. difficile epidemiology, transmission and diagnosis, and discuss the effect of these developments on the clinical management of CDI.

  5. Functional Dyspepsia: Advances in Diagnosis and Therapy

    PubMed Central

    Talley, Nicholas J.

    2017-01-01

    Functional dyspepsia (FD) is a common but under-recognized syndrome comprising bothersome recurrent postprandial fullness, early satiety, or epigastric pain/burning. Epidemiologically, there are two clinically distinct FD syndromes (although these often overlap clinically): postprandial distress syndrome (PDS; comprising early satiety or meal-related fullness) and epigastric pain syndrome. Symptoms of gastroesophageal reflux disease overlap with FD more than expected by chance; a subset has pathological acid reflux. The pre-test probability of FD in a patient who presents with classical FD symptoms and no alarm features is high, approximately 0.7. Coexistent heartburn should not lead to the exclusion of FD as a diagnosis. One of the most exciting observations in FD has been the consistent finding of increased duodenal eosinophilia, notably in PDS. Small bowel homing T cells, signaling intestinal inflammation, and increased cytokines have been detected in the circulation, and elevated tumor necrosis factor-α levels have been significantly correlated with increased anxiety. Postinfectious gastroenteritis is a risk factor for FD. Therapeutic options remain limited and provide only symptomatic benefit in most cases. Only one therapy is known to change the natural history of FD–Helicobacter pylori eradication. Treatment of duodenal eosinophilia is under investigation. PMID:28452210

  6. Knowledge, attitudes, and practices of Florida physicians regarding dengue before and after an educational intervention.

    PubMed

    Doblecki-Lewis, Susanne; Chang, Aileen; Jiddou-Yaldoo, Renee; Tomashek, Kay M; Stanek, Danielle; Anil, Leena; Lichtenberger, Paola

    2016-04-26

    Failure to recognize and appropriately manage dengue early in the clinical course may result in late initiation of supportive treatment for severe disease. In Florida, travel-related and autochthonous dengue occur and are likely under-recognized. The objective of this study was to evaluate physician knowledge of dengue and its management before and after an educational intervention in Florida. From 2012-13 we conducted 14 grand-rounds style lectures on dengue clinical management attended by 413 physicians, and analyzed data from the pre- and post-tests. Of those attending, 231 and 220 completed the pre-and post-tests, respectively. Overall, the mean pre-test score for knowledge-based questions was 74.3 and average post-test score was 94.2%, indicating a mean increase of 19.9% (P < 0.0001, 95% CI 17.7-22.4). Reported confidence in dengue recognition and management also increased. Non-US trained physicians and those who had treated more than ten dengue cases performed significantly better in the pre-test. Post-test scores did not differ by subgroup. The train-the-trainer approach with grand-rounds style presentations appear to be an effective intervention to improve knowledge of dengue among physicians.

  7. [Depression screening test for patients with metastatic gastric and colorectal cancer].

    PubMed

    Ina, Kenji; Sugiyama, Akemi; Yuasa, Shu; Koga, Chiaki; Yamazaki, Emiko; Katayama, Yoshiko; Nagaoka, Masatoshi; Nagao, Seiji

    2010-06-01

    The prevalence of depression has been reported to be higher in cancer patients, especially those of advanced stage, compared to normal controls. However, depression is often under-recognized in clinical oncology settings. And this psychological problem is not routinely assessed even in patients with inoperable metastatic cancer who often have psychological disorders. Psychological distress including depression, is affected by physical, psychosocial, and clinical factors. In order to detect psychiatric problems at the early stage, we assessed the mental conditions of 47 inpatients with metastatic gastric and colorectal cancerusing the Japanese version of Zung's Self Rating Depression Scale(SDS)and analyzed the relationships between these factors and SDS scores. While SDS scores of our patients did not differ according to their gender, age, performance status (PS), ortypes of patients' character, they were significantly higher in Group B(cancer patients with palliative care alone), compared to Group A(those receiving chemotherapy)(p<0. 001). As the disease in the four identical patients progressed to the terminal stage, their scores were significantly increased, respectively(p<0. 05). These results suggest that psychological intervention should be more critical for terminally ill patients without any indication of chemotherapy.

  8. [Significance of group A streptococcal infections in human pathology].

    PubMed

    Cvjetković, Dejan; Jovanović, Jovana; Hrnjaković-Cvjetković, Ivana; Aleksić-Dordević, Mirjana; Stefan-Mikić, Sandra

    2008-01-01

    Group A streptococci is the causative agent in 80 percents of human streptococcal infections. The only member of this group is Streptococcus pyogenes. CLINICALFEATURES OF GAS INFECTIONS: The various clinical entities and related complications caused by pyogenic streptococci are reviewed in the article. Pharyngitis, scarlet fever, skin and soft tissue infections (pyoderma, cellulitis, perianal dermatitis, necrotising fasciitis) and streptococcal toxic shock syndrome are described. The way of setting the diagnosis including epidemiological data, clinical features and the course of illness, laboratory findings and supportive diagnostic methods are represented in the article. The most important clinical entities which should be discussed in differential diagnosis of diseases caused by pyogenic streptococci are listed. The major principles of etiologic treatment through widely accepted strategies related to first choice antibiotics and alternatives are reviewed.

  9. The Abernethy malformation-myriad imaging manifestations of a single entity.

    PubMed

    Ghuman, Samarjit S; Gupta, Saumya; Buxi, T B S; Rawat, Kishan S; Yadav, Anurag; Mehta, Naimish; Sud, Seema

    2016-01-01

    Abernethy malformation, also known as congenital extrahepatic portosystemic shunts (CEPS) is a rare clinical entity and manifests with different clinical symptoms. CEPS are abnormalities of vascular development where there is shunting of portal blood into the systemic venous system. Multidetector computed tomography (MDCT) is a fast and effective modality for evaluation of CEPS. CT displays all the information desired by the surgeon as well as the clinician including the anatomy of the splenic and superior mesenteric veins, size and site of the shunt, presence or absence of the portal vein radicles, and helps to plan the therapy and even the follow-up of these patients. Contrast-enhanced magnetic resonance imaging (MRI) has also emerged as a promising tool for the evaluation of liver lesions associated with the malformation. The Radiologist should be aware of the various imaging appearances of this entity including its complications. In this article, we describe the imaging appearances of CEPS, their complications, and their imaging appearances on CT and MRI. We have also described various associated anomalies.

  10. The Abernethy malformation—myriad imaging manifestations of a single entity

    PubMed Central

    Ghuman, Samarjit S; Gupta, Saumya; Buxi, T B S; Rawat, Kishan S; Yadav, Anurag; Mehta, Naimish; Sud, Seema

    2016-01-01

    Abernethy malformation, also known as congenital extrahepatic portosystemic shunts (CEPS) is a rare clinical entity and manifests with different clinical symptoms. CEPS are abnormalities of vascular development where there is shunting of portal blood into the systemic venous system. Multidetector computed tomography (MDCT) is a fast and effective modality for evaluation of CEPS. CT displays all the information desired by the surgeon as well as the clinician including the anatomy of the splenic and superior mesenteric veins, size and site of the shunt, presence or absence of the portal vein radicles, and helps to plan the therapy and even the follow-up of these patients. Contrast-enhanced magnetic resonance imaging (MRI) has also emerged as a promising tool for the evaluation of liver lesions associated with the malformation. The Radiologist should be aware of the various imaging appearances of this entity including its complications. In this article, we describe the imaging appearances of CEPS, their complications, and their imaging appearances on CT and MRI. We have also described various associated anomalies. PMID:27857464

  11. CKD in diabetes: diabetic kidney disease versus nondiabetic kidney disease.

    PubMed

    Anders, Hans-Joachim; Huber, Tobias B; Isermann, Berend; Schiffer, Mario

    2018-06-01

    The increasing global prevalence of type 2 diabetes mellitus (T2DM) and chronic kidney disease (CKD) has prompted research efforts to tackle the growing epidemic of diabetic kidney disease (DKD; also known as diabetic nephropathy). The limited success of much of this research might in part be due to the fact that not all patients diagnosed with DKD have renal dysfunction as a consequence of their diabetes mellitus. Patients who present with CKD and diabetes mellitus (type 1 or type 2) can have true DKD (wherein CKD is a direct consequence of their diabetes status), nondiabetic kidney disease (NDKD) coincident with diabetes mellitus, or a combination of both DKD and NDKD. Preclinical studies using models that more accurately mimic these three entities might improve the ability of animal models to predict clinical trial outcomes. Moreover, improved insights into the pathomechanisms that are shared by these entities - including sodium-glucose cotransporter 2 (SGLT2) and renin-angiotensin system-driven glomerular hyperfiltration and tubular hyper-reabsorption - as well as those that are unique to individual entities might lead to the identification of new treatment targets. Acknowledging that the clinical entity of CKD plus diabetes mellitus encompasses NDKD as well as DKD could help solve some of the urgent unmet medical needs of patients affected by these conditions.

  12. Body dysmorphic disorder.

    PubMed

    Fang, Angela; Matheny, Natalie L; Wilhelm, Sabine

    2014-09-01

    Body dysmorphic disorder (BDD) can be a severe and often debilitating psychiatric disorder that has been largely under-recognized and underdiagnosed. Pharmacologic and nonpharmacologic treatment options are available but limited. This review aims to provide an updated overview of the psychopathology and epidemiology of BDD, with an emphasis on current pharmacologic and nonpharmacologic treatment options for BDD. Copyright © 2014 Elsevier Inc. All rights reserved.

  13. Infectious Shock and Toxic Shock Syndrome Diagnoses in Hospitals, Colorado, USA

    PubMed Central

    Smit, Michael A.; Nyquist, Ann-Christine

    2013-01-01

    In Colorado, USA, diagnoses coded as toxic shock syndrome (TSS) constituted 27.3% of infectious shock cases during 1993–2006. The incidence of staphylococcal TSS did not change significantly overall or in female patients 10–49 years of age but increased for streptococcal TSS. TSS may be underrecognized among all ages and both sexes. PMID:24188357

  14. Interveners in the Home and Community: An Under-Recognized Imperative

    ERIC Educational Resources Information Center

    Wiley, David; Fagbemi, Mike; Filek, John; Kirscher, Cathy; Morrow, Susanne Morgan; Reiman, John; Rohr, Lisa; Taylor-Snell, Emily

    2014-01-01

    A person who is considered deaf-blind is someone who is deaf or hard-of-hearing in combination with a visual impairment or blindness. The range of capabilities and support needs of individuals with deaf-blindness varies substantially from person to person because of differences in the extent of partial vision or hearing, if any, or the presence of…

  15. Potential Allergens in Disposable Diaper Wipes, Topical Diaper Preparations, and Disposable Diapers: Under-recognized Etiology of Pediatric Perineal Dermatitis.

    PubMed

    Yu, JiaDe; Treat, James; Chaney, Keri; Brod, Bruce

    2016-01-01

    Allergic contact dermatitis in young children may be an under-recognized cause of perineal dermatitis. The diapered infant skin is uniquely susceptible to allergic contact dermatitis because of more permeable neonatal skin, a moist environment, frequent contact with irritants and resultant skin barrier breakdown, and exposure to topical products such as diaper wipes, diaper preparations, and disposable diapers. To our knowledge, potential allergens in these products have not been thoroughly catalogued or studied. We explore and review potential allergenic ingredients in diaper wipes, topical diaper preparations, and disposable diapers. We analyzed 63 diaper wipes, 41 topical diaper preparations, and the 3 top selling diaper brands available from two of the largest retailers in the United States. Each potential allergen is discussed, and epidemiologic studies of rates of sensitization to potential allergens in children are also reported. Botanical extracts, including members of the Compositae family, were the most commonly represented potential allergen in both diaper wipes and topical preparations. Other potential allergens identified with high frequency include α-tocopherol, fragrances, propylene glycol, parabens, iodopropynyl butylcarbamate, and lanolin. Frequent culprits such as formaldehyde releasers and methylchloroisothiazolinone/methylisothiazolinone were not prevalent in our analyzed products.

  16. A Review of 20 Years of Research on Overdiagnosis and Underdiagnosis in the Rhode Island Methods to Improve Diagnostic Assessment and Services (MIDAS) Project

    PubMed Central

    2016-01-01

    The Rhode Island Methods to Improve Diagnostic Assessment and Services (MIDAS) project represents an integration of research methodology into a community-based outpatient practice affiliated with an academic medical centre. The MIDAS project is the largest clinical epidemiological study using semi-structured interviews to assess a wide range of psychiatric disorders in a general clinical outpatient practice. In an early report from the MIDAS project, we found that across diagnostic categories clinicians using unstandardized, unstructured clinical interviews underrecognized diagnostic comorbidity, compared with the results of semi-structured interviews. Moreover, we found that the patients often wanted treatment for symptoms of disorders that were diagnosed as comorbid, rather than principal, conditions. This highlighted the importance, from the patient’s perspective, of conducting thorough diagnostic interviews to diagnose disorders that are not related to the patient’s chief complaint because patients often desire treatment for these additional diagnoses. While several of the initial papers from the MIDAS project identified problems with the detection of comorbid disorders in clinical practice, regarding the diagnosis of bipolar disorder we observed the emergence of an opposite phenomenon—clinician overdiagnosis. The results from the MIDAS project, along with other studies of diagnosis in routine clinical practice, have brought to the forefront the problem with diagnosis in routine clinical practice. An important question is what do these findings suggest about the community standard of care in making psychiatric diagnoses, and whether and how the standard of care should be changed? The implications are discussed. PMID:27253697

  17. Polymer coating embolism from intravascular medical devices - a clinical literature review.

    PubMed

    Chopra, Amitabh M; Mehta, Monik; Bismuth, Jean; Shapiro, Maksim; Fishbein, Michael C; Bridges, Alina G; Vinters, Harry V

    Over the past three decades, lubricious (hydrophobic and/or hydrophilic) polymer-coated devices have been increasingly adopted by interventional physicians and vascular surgeons to access and treat a wider range of clinical presentations. Recent clinical literature highlights the presence of polymer coating emboli within the anatomy - a result of coating separation from an intravascular device - and associates it with a range of adverse clinical sequelae. The 2015 U.S. Food and Drug Administration safety communication titled "Lubricious Coating Separation from Intravascular Medical Devices" acknowledges these concerns and concludes that it will work with stakeholders to develop nonclinical test methodologies, establish performance criteria, and identify gaps in current national and international device standards for coating integrity performance. Despite this communication and multiple case reports from interventional physicians, pathologists, dermatologists and other involved physician specialties, polymer coating embolism remains clinically underrecognized. This article consolidates the available literature on polymer coating embolism (1986-2016) and highlights the following relevant information for the physician: (a) the history and elusive nature of polymer coating embolism; (b) potential incidence rates of this phenomenon; (c) reported histologic findings and clinical effects of polymer emboli in the anatomy; (d) the importance of the collaborative clinician-pathologist partnership to report polymer embolism findings; and (e) the importance to study particulate release from intravascular devices so as to further understand and potentially evolve coated interventional technologies. Preliminary research on coatings highlights the potential of using iterations of coatings on medical devices that attain the desired therapeutic result and mitigate or eliminate particulates altogether. Copyright © 2017 The Authors. Published by Elsevier Inc. All rights reserved.

  18. A Review of 20 Years of Research on Overdiagnosis and Underdiagnosis in the Rhode Island Methods to Improve Diagnostic Assessment and Services (MIDAS) Project.

    PubMed

    Zimmerman, Mark

    2016-02-01

    The Rhode Island Methods to Improve Diagnostic Assessment and Services (MIDAS) project represents an integration of research methodology into a community-based outpatient practice affiliated with an academic medical centre. The MIDAS project is the largest clinical epidemiological study using semi-structured interviews to assess a wide range of psychiatric disorders in a general clinical outpatient practice. In an early report from the MIDAS project, we found that across diagnostic categories clinicians using unstandardized, unstructured clinical interviews underrecognized diagnostic comorbidity, compared with the results of semi-structured interviews. Moreover, we found that the patients often wanted treatment for symptoms of disorders that were diagnosed as comorbid, rather than principal, conditions. This highlighted the importance, from the patient's perspective, of conducting thorough diagnostic interviews to diagnose disorders that are not related to the patient's chief complaint because patients often desire treatment for these additional diagnoses. While several of the initial papers from the MIDAS project identified problems with the detection of comorbid disorders in clinical practice, regarding the diagnosis of bipolar disorder we observed the emergence of an opposite phenomenon-clinician overdiagnosis. The results from the MIDAS project, along with other studies of diagnosis in routine clinical practice, have brought to the forefront the problem with diagnosis in routine clinical practice. An important question is what do these findings suggest about the community standard of care in making psychiatric diagnoses, and whether and how the standard of care should be changed? The implications are discussed. © The Author(s) 2016.

  19. Blood collection tubes as medical devices: The potential to affect assays and proposed verification and validation processes for the clinical laboratory.

    PubMed

    Bowen, Raffick A R; Adcock, Dorothy M

    2016-12-01

    Blood collection tubes (BCTs) are an often under-recognized variable in the preanalytical phase of clinical laboratory testing. Unfortunately, even the best-designed and manufactured BCTs may not work well in all clinical settings. Clinical laboratories, in collaboration with healthcare providers, should carefully evaluate BCTs prior to putting them into clinical use to determine their limitations and ensure that patients are not placed at risk because of inaccuracies due to poor tube performance. Selection of the best BCTs can be achieved through comparing advertising materials, reviewing the literature, observing the device at a scientific meeting, receiving a demonstration, evaluating the device under simulated conditions, or testing the device with patient samples. Although many publications have discussed method validations, few detail how to perform experiments for tube verification and validation. This article highlights the most common and impactful variables related to BCTs and discusses the validation studies that a typical clinical laboratory should perform when selecting BCTs. We also present a brief review of how in vitro diagnostic devices, particularly BCTs, are regulated in the United States, the European Union, and Canada. The verification and validation of BCTs will help to avoid the economic and human costs associated with incorrect test results, including poor patient care, unnecessary testing, and delays in test results. We urge laboratorians, tube manufacturers, diagnostic companies, and other researchers to take all the necessary steps to protect against the adverse effects of BCT components and their additives on clinical assays. Copyright © 2016 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved.

  20. Exercise Related Leg Pain (ERLP): a Review of The Literature

    PubMed Central

    2007-01-01

    Exercise related leg pain (ERLP) is a regional pain syndrome described as pain between the knee and ankle which occurs with exercise. Indiscriminant use of terminology such as “shin splints” has resulted in ongoing confusion regarding the pathoanatomic entities associated with this pain syndrome. Each of the pathoanatomic entities – medial tibial stress syndrome, chronic exertional compartment syndrome, tibial and fibular stress fractures, tendinopathy, nerve entrapment, and vascular pathology – which manifest as ERLP are each described in terms of relevant anatomy, epidemiology, clinical presentation, associated pathomechanics, and intervention strategies. Evidence regarding risk factors for ERLP general and specific pathoanatomic entities are presented in the context of models of sports injury prevention. PMID:21522213

  1. A critical appraisal of the mild axonal peripheral neuropathy of late neurologic Lyme disease

    PubMed Central

    Wormser, Gary P.; Strle, Franc; Shapiro, Eugene D.; Dattwyler, Raymond J.; Auwaerter, Paul G.

    2018-01-01

    In older studies, a chronic distal symmetric sensory neuropathy was reported as a relatively common manifestation of late Lyme disease in the United States. However, the original papers describing this entity had notable inconsistencies and certain inexplicable findings, such as reports that this condition developed in patients despite prior antibiotic treatment known to be highly effective for other manifestations of Lyme disease. More recent literature suggests that this entity is seen rarely, if at all. A chronic distal symmetric sensory neuropathy as a manifestation of late Lyme disease in North America should be regarded as controversial and in need of rigorous validation studies before acceptance as a documented clinical entity. PMID:27914746

  2. An unusual case of primary spontaneous tension pneumothorax in a jamaican female.

    PubMed

    Johnson, M; French, S; Cornwall, D

    2014-06-01

    Spontaneous pneumothorax is a well-recognized entity with a classical presentation of acute onset chest pain and shortness of breath. It may be complicated by the development of a tension pneumothorax or a haemopneumothorax. We report an interesting case of a spontaneous tension haemopneumothorax which presented atypically and was diagnosed on computed tomography (CT) scan of the chest. The clinical and pathophysiological characteristics and treatment of this unusual entity is discussed.

  3. Mobile Interspersed Repeats Are Major Structural Variants in the Human Genome

    PubMed Central

    Huang, Cheng Ran Lisa; Schneider, Anna M.; Lu, Yunqi; Niranjan, Tejasvi; Shen, Peilin; Robinson, Matoya A.; Steranka, Jared P.; Valle, David; Civin, Curt I.; Wang, Tao; Wheelan, Sarah J.; Ji, Hongkai; Boeke, Jef D.; Burns, Kathleen H.

    2010-01-01

    Summary Characterizing structural variants in the human genome is of great importance, but a genome wide analysis to detect interspersed repeats has not been done. Thus, the degree to which mobile DNAs contribute to genetic diversity, heritable disease, and oncogenesis remains speculative. We perform transposon insertion profiling by microarray (TIP-chip) to map human L1(Ta) retrotransposons (LINE-1 s) genome-wide. This identified numerous novel human L1(Ta) insertional polymorphisms with highly variant allelic frequencies. We also explored TIP-chip's usefulness to identify candidate alleles associated with different phenotypes in clinical cohorts. Our data suggest that the occurrence of new insertions is twice as high as previously estimated, and that these repeats are under-recognized as sources of human genomic and phenotypic diversity. We have just begun to probe the universe of human L1(Ta) polymorphisms, and as TIP-chip is applied to other insertions such as Alu SINEs, it will expand the catalog of genomic variants even further. PMID:20602999

  4. War stories: a qualitative analysis of narrative teaching strategies in the operating room.

    PubMed

    Hu, Yue-Yung; Peyre, Sarah E; Arriaga, Alexander F; Roth, Emilie M; Corso, Katherine A; Greenberg, Caprice C

    2012-01-01

    "War stories" are commonplace in surgical education, yet little is known about their purpose, construct, or use in the education of trainees. Ten complex operations were videotaped and audiotaped. Narrative stories were analyzed using grounded theory to identify emergent themes in both the types of stories being told and the teaching objectives they illustrated. Twenty-four stories were identified in 9 of the 10 cases (mean, 2.4/case). They were brief (mean, 58 seconds), illustrative of multiple teaching points (mean, 1.5/story), and appeared throughout the operations. Anchored in personal experience, these stories taught both clinical (eg, operative technique, decision making, error identification) and programmatic (eg, resource management, professionalism) topics. Narrative stories are used frequently and intuitively by physicians to emphasize a variety of intraoperative teaching points. They socialize trainees in the culture of surgery and may represent an underrecognized approach to teaching the core competencies. More understanding is needed to maximize their potential. Copyright © 2012 Elsevier Inc. All rights reserved.

  5. Pain Management in CKD: A Guide for Nephrology Providers.

    PubMed

    Koncicki, Holly M; Unruh, Mark; Schell, Jane O

    2017-03-01

    Although pain is one of the most commonly experienced symptoms by patients with chronic kidney disease, it is under-recognized, the severity is underestimated, and the treatment is inadequate. Pain management is one of the general primary palliative care competencies for medical providers. This review provides nephrology providers with basic skills for pain management. These skills include recognition of types of pain (nociceptive and neuropathic) syndromes and appropriate history-taking skills. Through this history, providers can identify clinical circumstances in which specialist referral is beneficial, including those who are at high risk for addiction, at risk for adverse effects to medications, and those with complicated care needs such as patients with a limited prognosis. Management of pain begins with the development of a shared treatment plan, identification of appropriate medications, and continual follow-up and assessment of efficacy and adverse effects. Through adequate pain management, providers can positively affect the health of individual patients and the performance of health care systems. Copyright © 2016 National Kidney Foundation, Inc. All rights reserved.

  6. Improving the recognition and diagnosis of opioid-induced constipation in clinical practice.

    PubMed

    Gupta, Anita

    2015-10-01

    Opioid-induced constipation is a common side effect of opioid therapy that has been under-recognized and undertreated. With the continued increase in opioid use in the United States, along with the growth of the elderly population, more patients will develop OIC, and family physicians will encounter more patients with OIC. OIC negatively affects patient QOL, daily activity, work productivity, and psychological well-being. If not treated effectively, OIC may result in patients attempting to balance their pain relief against their constipation, by self-adjusting their opioid dose. OIC results from opioid actions at enteric opioid receptors. Although commonly prescribed for OIC, laxatives do not target the pathophysiologic mechanism of OIC and have limited efficacy. Specific, effective treatments for OIC, consisting of a subcutaneously administered PAMORA, an oral PAMORA, and an oral chloride channel activator, have been developed and have received US Food and Drug Administration approval. After recognizing the signs and symptoms of OIC to facilitate diagnosis, family physicians can initiate effective treatments in appropriate patients.

  7. Repetitive nonreentrant ventriculoatrial synchrony: An underrecognized cause of pacemaker-related arrhythmia.

    PubMed

    Sharma, Parikshit S; Kaszala, Karoly; Tan, Alex Y; Koneru, Jayanthi N; Shepard, Richard; Ellenbogen, Kenneth A; Huizar, Jose F

    2016-08-01

    Similar to endless loop tachycardia (ELT), repetitive nonreentrant ventriculoatrial synchrony (RNRVAS) is a ventriculoatrial (VA) synchrony pacemaker-mediated arrhythmia. RNRVAS was first described in 1990 and can only occur in the presence of retrograde VA conduction and dual-chamber or cardiac resynchronization devices with tracking (P-synchronous ventricular pacing such as DDD, DDDR) or nontracking pacing modes that allow AV-sequential pacing (DDI, DDIR). RNRVAS is promoted by (1) high lower rate limit or any feature that allows rapid pacing, (2) long AV intervals, or (3) long postventricular atrial refractory period (PVARP). In contrast to ELT, RNRVAS is a less well-recognized form of pacemaker-mediated arrhythmia; thus, unlike ELT, there are no specific device algorithms to prevent, recognize, and terminate RNRVAS. However, RNRVAS has been recently shown to occur frequently. We present a series of cases, some of which were found fortuitously. Owing to its clinical implications, we propose that algorithms should be developed to prevent, identify, and terminate RNRVAS. Published by Elsevier Inc.

  8. [Legionella pneumonia--a case report].

    PubMed

    Marques, A S; Estrada, M H

    2005-01-01

    Legionella, as a cause of community-acquired pneumonia, is probably under-recognized because the diagnosis relies on the use of specific tests as well the existence of an in-numerous species and serogroups not easily identify by the tests available. In studies from Europe and North America, it ranged from 2 to 15 percent of all community-acquired pneumonias that required hospitalisation, in the first four causes when culture methods were done and the second cause of those admitted in the intensive care units. We do a case report of 43 year-old man with history of cigarette smoking and corticosteroid therapy for a ocular disease, that presents with a pneumonia complicated with a Acute Respiratory Distress Syndrome (ARDS), that leaded to his admission to an intensive care unit were he was mechanical ventilated. The epidemiological investigation identified Legionella pneumophila serogroup 1. The authors present this case doing a brief review of this disease and discussing the epidemiology, clinical features, laboratory diagnosis as well as therapeutic options.

  9. Antiretroviral Therapy Use, Medication Adherence, and Viral Suppression Among PLWHA with Panic Symptoms.

    PubMed

    Sam, Tanyka Suzanne; Hutton, Heidi E; Lau, Bryan; McCaul, Mary E; Keruly, Jeanne; Moore, Richard; Chander, Geetanjali

    2015-11-01

    Panic symptoms are prevalent among PLWHAs, yet few studies have examined their relationship with HIV outcomes. Using data from an observational cohort study in Baltimore, MD, we examined the association between panic symptoms and antiretroviral therapy (ART) use, medication adherence, and viral suppression. Data were analyzed using generalized estimating equations and adjusted for age, sex, race/ethnicity, cocaine and/or heroin use, clinic enrollment time, alcohol use, and depressive symptoms. Between June 2010 and September 2012, 1195 individuals participated in 2080 audio computer assisted interviews; 9.9 % (n = 118) of individuals endorsed current panic symptoms. In multivariate analysis, panic symptoms were associated with decreased ART use (IRR 0.94; p = 0.05). Panic symptoms were neither associated with medication adherence nor viral suppression. These findings were independent of depressive symptoms and substance use. Panic symptoms are under-recognized in primary care settings and present an important barrier to ART use. Further studies investigating the reasons for this association are needed.

  10. Antiretroviral Therapy Use, Medication Adherence, and Viral Suppression among PLWHA with Panic Symptoms

    PubMed Central

    Sam, Tanyka S; Hutton, Heidi E; Lau, Bryan; McCaul, Mary E; Keruly, Jeanne; Moore, Richard; Chander, Geetanjali

    2015-01-01

    Panic symptoms are prevalent among PLWHAs, yet few studies have examined their relationship with HIV outcomes. Using data from an observational cohort study in Baltimore, MD, we examined the association between panic symptoms and ART use, medication adherence, and viral suppression. Data were analyzed using GEE and adjusted for age, sex, race/ethnicity, cocaine and/or heroin use, clinic enrollment time, alcohol use, and depressive symptoms. Between June 2010 and September 2012, 1195 individuals participated in 2080 audio computer assisted interviews; 9.9% (n=118) of individuals endorsed current panic symptoms. In multivariate analysis, panic symptoms were associated with decreased ART use (IRR 0.94; p = 0.05). Panic symptoms were neither associated with medication adherence nor viral suppression. These findings were independent of depressive symptoms and substance use. Panic symptoms are under-recognized in primary care settings and present an important barrier to ART use. Further studies investigating the reasons for this association are needed. PMID:25903506

  11. Definition and epidemiology of acute respiratory distress syndrome

    PubMed Central

    Rezoagli, Emanuele; Fumagalli, Roberto

    2017-01-01

    Fifty years ago, Ashbaugh and colleagues defined for the first time the acute respiratory distress syndrome (ARDS), one among the most challenging clinical condition of the critical care medicine. The scientific community worked over the years to generate a unified definition of ARDS, which saw its revisited version in the Berlin definition, in 2014. Epidemiologic information about ARDS is limited in the era of the new Berlin definition, and wide differences are reported among countries all over the world. Despite decades of study in the field of lung injury, ARDS is still so far under-recognized, with 2 out of 5 cases missed by clinicians. Furthermore, although advances of ventilator strategies in the management of ARDS associated with outcome improvements—such as protective mechanical ventilation, lower driving pressure, higher PEEP levels and prone positioning—ARDS appears to be undertreated and mortality remains elevated up to 40%. In this review, we cover the history that led to the current worldwide accepted Berlin definition of ARDS and we summarize the recent data regarding ARDS epidemiology. PMID:28828357

  12. War stories: a qualitative analysis of narrative teaching strategies in the operating room

    PubMed Central

    Hu, Yue-Yung; Peyre, Sarah E.; Arriaga, Alexander F.; Roth, Emilie M.; Corso, Katherine A.; Greenberg, Caprice C.

    2015-01-01

    BACKGROUND “War stories” are commonplace in surgical education, yet little is known about their purpose, construct, or use in the education of trainees. METHODS Ten complex operations were videotaped and audiotaped. Narrative stories were analyzed using grounded theory to identify emergent themes in both the types of stories being told and the teaching objectives they illustrated. RESULTS Twenty-four stories were identified in 9 of the 10 cases (mean, 2.4/case). They were brief (mean, 58 seconds), illustrative of multiple teaching points (mean, 1.5/story), and appeared throughout the operations. Anchored in personal experience, these stories taught both clinical (eg, operative technique, decision making, error identification) and programmatic (eg, resource management, professionalism) topics. CONCLUSIONS Narrative stories are used frequently and intuitively by physicians to emphasize a variety of intraoperative teaching points. They socialize trainees in the culture of surgery and may represent an underrecognized approach to teaching the core competencies. More understanding is needed to maximize their potential. PMID:22088266

  13. Unilateral RS3PE in a Patient of Seronegative Rheumatoid Arthritis.

    PubMed

    Varshney, Ankur Nandan; Kumar, Nilesh; Tiwari, Ashutosh; Anand, Ravi; Prasad, Sashi Ranjan; Anand, Arvind; Mishra, Abhinandan; Singh, N K

    2013-01-01

    Remitting seronegative symmetrical synovitis with pitting edema (RS3PE) is a rare but well-reported clinical entity. It is classically described as symmetrical involvement of both upper extremities. Asymmetrical involvement had also been reported, but unilateral presentation is very rare. We hereby report a case of unilateral RS3PE in a patient of seronegative rheumatoid arthritis which was initially misdiagnosed as cellulitis and was given high dose antibiotics without any significant improvement. Later a rheumatologic consultation leads to a prompt diagnosis, and treatment with steroids leads to dramatic reversal of symptoms. This case demonstrates the rare presentation of this rare clinical entity and highlights the necessity of awareness regarding unilateral disease to clinicians.

  14. A Challenging Case of Primary Breast Hodgkin's Lymphoma

    PubMed Central

    ZARNESCU, Narcis Octavian; ILIESIU, Andreea; PROCOP, Alexandru; TAMPA, Mircea; MATEI, Clara; SAJIN, Maria; COSTACHE, Mariana; DUMITRU, Adrian; LAZAROIU, Anca Mihaela

    2015-01-01

    Primary breast lymphoma (PBL) is a rare entity accounting for less than 1% of all breast malignancies. Diagnostic criteria for primary Hodgkin's lymphoma of the breast are: the presence of sufficient tissue for diagnosis, close interaction between mammary tissue and lymphomatous infiltrate and no evidence or prior diagnosis of widespread lymphoma. Our case illustrates an unusual presentation of Hodgkin's lymphoma of the breast: clinically as inflammatory breast cancer and core biopsy as granulomatous mastitis, the final diagnosis requiring surgical biopsy. Current information regarding this entity is scant, mainly build upon its rarity. In this paper we assess the clinical presentation, the step-by-step diagnosis, the treatment and the importance of immunohistochemistry in this uncommon condition. PMID:26225149

  15. A Challenging Case of Primary Breast Hodgkin's Lymphoma.

    PubMed

    Zarnescu, Narcis Octavian; Iliesiu, Andreea; Procop, Alexandru; Tampa, Mircea; Matei, Clara; Sajin, Maria; Costache, Mariana; Dumitru, Adrian; Lazaroiu, Anca Mihaela

    2015-03-01

    Primary breast lymphoma (PBL) is a rare entity accounting for less than 1% of all breast malignancies. Diagnostic criteria for primary Hodgkin's lymphoma of the breast are: the presence of sufficient tissue for diagnosis, close interaction between mammary tissue and lymphomatous infiltrate and no evidence or prior diagnosis of widespread lymphoma. Our case illustrates an unusual presentation of Hodgkin's lymphoma of the breast: clinically as inflammatory breast cancer and core biopsy as granulomatous mastitis, the final diagnosis requiring surgical biopsy. Current information regarding this entity is scant, mainly build upon its rarity. In this paper we assess the clinical presentation, the step-by-step diagnosis, the treatment and the importance of immunohistochemistry in this uncommon condition.

  16. Leiomyoma of the anal canal: report of two cases.

    PubMed

    Witz, M; Bernheim, J; Griffel, B; Dinbar, A

    1986-10-01

    Leiomyoma of the rectum and anal canal is an unusual clinical entity. Generally, it does not produce any clinical signs and in most cases it is discovered incidentally in the course of routine rectal examination. The clinical presentation, diagnosis, and surgical treatment are described in two presented cases of anal canal leiomyoma.

  17. Vestibular Migraine: Clinical Challenges and Opportunities for Multidisciplinarity

    PubMed Central

    Luís, Leonel; Gonçalves, Freire; Pavão Martins, Isabel

    2016-01-01

    Migraine and vertigo are two very prevalent conditions in general population. The coexistence of both in the same subject is a significant clinical challenge, since it is not always possible to understand whether they are causally related or associated by chance, requiring different diagnostic and therapeutic approaches. In this review we analyze and summarize the actual knowledge about vestibular migraine (VM), focusing on the new concepts proposed by the International Classification of Headache Disorders 3-beta and by the Bárány Society and also addressing the former concepts, which are still present in clinical practice. We conclude that clinical studies using a multidisciplinary approach are crucial in this field, since different specialists observe the same pathology with different eyes. Clinical presentation of VM is variable in what concerns vestibular symptoms temporal relation with migraine headache, as well as in their accompanying manifestations. Biomarkers, either genomics or functional, and molecular imaging techniques will be helpful to clarify many aspects of the complexity of this entity, helping to define to what extent can VM be considered a separate and independent clinical entity. PMID:28082766

  18. Tumoral, quasitumoral and pseudotumoral lesions of the superficial and somatic soft tissue: new entities and new variants of old entities recorded during the last 25 years. Part XII: appendix.

    PubMed

    Bisceglia, M; Spagnolo, D; Galliani, C; Fisher, C; Suster, S; Kazakov, D V; Cooper, K; Michal, M

    2006-08-01

    In an eleven part series published in Pathologica, we have presented various tumoral, quasitumoral and pseudotumoral lesions of the superficial and somatic soft tissue (ST), which emerged as new entities or as variants of established entities during the last quarter of a century. Detailed clinicomorphological and differential diagnostic features of approximately sixty entities were chosen on the basis of their clinical significance and morphologic distinctiveness. The series included fibrous and myofibroblastic tumors (e.g. solitary fibrous tumor, high grade classic and pigmented dermatofibrosarcoma protuberans, inflammatory myofibroblastic tumor and myofibrosarcomas), fibromyxoid and fibrohistiocytic neoplasms (e.g., Evans' tumor, phosphaturic mesenchymal tumor, inflammatory myxohyaline tumor), special adipocytic/vascular/and smooth muscle lesions (e.g., chondroid lipoma, Dabska's tumor, ST hemangioblastoma, lipoleiomyosarcoma), epithelioid mesenchymal malignancies of diverse lineages (e.g., epithelioid liposarcoma, proximal-type epithelioid sarcoma, neuroendocrine extraskeletal chondromyxoid sarcoma), ST Ewing's tumor and peripheral nerve sheath tumors (perineuriomas and pigmented and rosetting tumors of the schwannoma/neurofibroma group), extranodal dendritic or histiocytic proliferative processes (follicular dendritic cell sarcoma, Rosai-Dorfman disease, Castleman's disease, and plexiform xanthomatous tumor), and tumors with myoepithelial differentiation. The section devoted to selected pseudotumoral entities considered representatives of the hamartoma group (neural fibrolipomatous hamartoma, ectopic hamartomatous thymoma, rudimentary meningocele), metabolic diseases (amyloid tumor, nephrogenic fibrosing dermopathy, tophaceous pseudogout, pseudoinfiltrative parathyromatosis), stromal tissue reactions to trauma (fibroosseous pseudotumors of digits) and infections (bacillary angiomatosis), and normal organs (glomus coccygeum). To conclude the descriptive phase, supplementary material has now been collected and appended in an attempt to provide a quick digest of essential knowledge both for comparison and differential diagnosis. The data have been tailored to synthesize diverse sources, integrating clinical elements and references to articles that previously appeared in Part I ("Introduction"), Part II ("The List and Review of New Entities") and Parts III to XI ("Excerpta"). At the very least we hope this final part ("Appendix") will provide the reader with a useful tabular organization of ST lesions and a reference resource.

  19. Motivation and Organizational Principles for Anatomical Knowledge Representation

    PubMed Central

    Rosse, Cornelius; Mejino, José L.; Modayur, Bharath R.; Jakobovits, Rex; Hinshaw, Kevin P.; Brinkley, James F.

    1998-01-01

    Abstract Objective: Conceptualization of the physical objects and spaces that constitute the human body at the macroscopic level of organization, specified as a machine-parseable ontology that, in its human-readable form, is comprehensible to both expert and novice users of anatomical information. Design: Conceived as an anatomical enhancement of the UMLS Semantic Network and Metathesaurus, the anatomical ontology was formulated by specifying defining attributes and differentia for classes and subclasses of physical anatomical entities based on their partitive and spatial relationships. The validity of the classification was assessed by instantiating the ontology for the thorax. Several transitive relationships were used for symbolically modeling aspects of the physical organization of the thorax. Results: By declaring Organ as the macroscopic organizational unit of the body, and defining the entities that constitute organs and higher level entities constituted by organs, all anatomical entities could be assigned to one of three top level classes (Anatomical structure, Anatomical spatial entity and Body substance). The ontology accommodates both the systemic and regional (topographical) views of anatomy, as well as diverse clinical naming conventions of anatomical entities. Conclusions: The ontology formulated for the thorax is extendible to microscopic and cellular levels, as well as to other body parts, in that its classes subsume essentially all anatomical entities that constitute the body. Explicit definitions of these entities and their relationships provide the first requirement for standards in anatomical concept representation. Conceived from an anatomical viewpoint, the ontology can be generalized and mapped to other biomedical domains and problem solving tasks that require anatomical knowledge. PMID:9452983

  20. Development of an Electronic Medical Record-Based Clinical Decision Support Tool to Improve HIV Symptom Management

    PubMed Central

    Tsevat, Joel; Justice, Amy C.; Mrus, Joseph M.; Levin, Forrest; Kozal, Michael J.; Mattocks, Kristin; Farber, Steven; Rogers, Michelle; Erdos, Joseph; Brandt, Cynthia; Kudel, Ian; Braithwaite, Ronald

    2009-01-01

    Abstract Common symptoms associated with HIV disease and its management are often underrecognized and undertreated. A clinical decision support tool for symptom management was developed within the Veterans Health Administration electronic medical record (EMR), aiming at increasing provider awareness of and response to common HIV symptoms. Its feasibility was studied in March to May 2007 by implementing it within a weekly HIV clinic, comparing a 4-week intervention period with a 4-week control period. Fifty-six patients and their providers participated in the study. Patients' perceptions of providers' awareness of their symptoms, proportion of progress notes mentioning any symptom(s) and proportion of care plans mentioning any symptom(s) were measured. The clinical decision support tool used portable electronic “tablets” to elicit symptom information at the time of check-in, filtered, and organized that information into a concise and clinically relevant EMR note available at the point of care, and facilitated clinical responses to that information. It appeared to be well accepted by patients and providers and did not substantially impact workflow. Although this pilot study was not powered to detect effectiveness, 25 (93%) patients in the intervention group reported that their providers were very aware of their symptoms versuas 27 (75%) control patients (p = 0.07). The proportion of providers' notes listing symptoms was similar in both periods; however, there was a trend toward including a greater number of symptoms in intervention period progress notes. The symptom support tool seemed to be useful in clinical HIV care. The Veterans Health Administration EMR may be an effective “laboratory” for developing and testing decision supports. PMID:19538046

  1. Risks go beyond the violence: Association between intimate partner violence, mental illness, and substance abuse among females admitted to a rural Level I trauma center.

    PubMed

    Hink, Ashley B; Toschlog, Eric; Waibel, Brett; Bard, Michael

    2015-11-01

    Intimate partner violence (IPV) is a significant cause of intentional injury among women but remains underrecognized, and its relationship to other risk factors for all-cause injury remains poorly defined. This study aimed to assess IPV and its association with alcohol abuse, illicit substance use, selected mental illnesses, and other risk factors for injury. This is a cross-sectional study of prospectively collected data among adult females admitted to a rural, Level I trauma center. Well-validated instruments assessed IPV, substance abuse, and mental illness. Bivariate relationships were assessed with χ, odds ratios, and t test analyses. Eighty-one women were enrolled; 51% reported lifetime IPV, and 31% reported past-year IPV. Both groups were significantly more likely to have a mental illness than those without a history of IPV. Those reporting lifetime IPV exposure were significantly more likely to report illicit substance use, and past-year IPV was associated with alcohol abuse (28% vs. 7.1%, p = 0.01). Participants reporting past-year IPV were significantly more likely to have a partner possessing a firearm (40% vs. 12.5%, p = 0.005). The experience of lifetime and past-year IPV among women at a Level I, rural trauma center was high, and it was significantly associated with mental illness, substance abuse, and high-risk scenarios for intentional injury including firearm ownership by a significant other. These findings inform the potential value of IPV screening and intervention and suggest that IPV, mental illness, and substance abuse should be considered associated entities in prevention and recidivism reduction efforts in the female trauma population. Prognostic study, level II; therapeutic study, level III.

  2. Sneezing induced by sexual ideation or orgasm: an under-reported phenomenon.

    PubMed

    Bhutta, Mahmood F; Maxwell, Harold

    2008-12-01

    We describe a hitherto under-recognized curious response in some individuals: of sneezing in response either to sexual ideation or in response to orgasm. Our review suggests that it may be much more common than expected. We surmise that an indiscrete stimulation of the parasympathetic nervous system may be an underlying mechanism to explain this and other reported unusual triggers of sneezing.

  3. Conservation strategies and vegetation characterization in the Columbia Bottomlands, an under-recognized southern floodplain forest formation

    Treesearch

    D. J. Rosen; D. De Steven; M. L. Lange

    2008-01-01

    The Columbia Bottomlands, a Southern floodplain forest formation on the upper Texas coast, historically covered over 283,000 ha but has since been reduced to 25% of its former extent. The importance of this regional ecosystem as critical stopover and staging habitat for Nearctic-Neotropical migratory landbirds gave rise to the Columbia Bottomlands Conservation Plan, an...

  4. Minimally Invasive Sacroiliac Joint Fusion, Radiofrequency Denervation, and Conservative Management for Sacroiliac Joint Pain: 6-Year Comparative Case Series.

    PubMed

    Vanaclocha, Vicente; Herrera, Juan Manuel; Sáiz-Sapena, Nieves; Rivera-Paz, Marlon; Verdú-López, Francisco

    2018-01-01

    Sacroiliac joint (SIJ) pain is an under-recognized condition. Substantial information supports the safety and effectiveness of SIJ fusion (SIJF). Long-term follow-up after SIJF has not been reported. To determine responses to conservative management (CM), SIJ denervation, and SIJF in patients with SIJ pain unresponsive to CM. Retrospective study with long-term (up to 6 yr) follow-up of 137 patients with SIJ pain seen in an outpatient neurosurgery clinic who received either CM (n = 63), sacroiliac denervation (n = 47), or minimally invasive SIJF (n = 27). At each routine clinic visit, patients completed pain scores and Oswestry Disability Index. Additional data were extracted from medical charts. Patients treated with continued CM had no long-term improvement in pain (mean worsening of 1 point) or disability (mean Oswestry Disability Index worsened by 4-6 points), increased their use of opioids, and had poor long-term work status. SIJF patients had large improvements in SIJ pain (mean 6 points), large improvements in disability (mean 25 points), a decrease in opioid use, and good final work status. Sacroiliac denervation patients had intermediate responses (0-1 and 1-2 points, respectively). In patients with SIJ pain unresponsive to CM, SIJF resulted in excellent long-term clinical responses, with low opioid use and better work status compared to other treatments. Copyright © 2017 by the Congress of Neurological Surgeons

  5. Bile Cast Nephropathy in Cirrhotic Patients: Effects of Chronic Hyperbilirubinemia.

    PubMed

    Foshat, Michelle; Ruff, Heather M; Fischer, Wayne G; Beach, Robert E; Fowler, Mark R; Ju, Hyunsu; Aronson, Judith F; Afrouzian, Marjan

    2017-05-01

    The aim of this study was to determine the prevalence of bile cast nephropathy (BCN) in autopsied cirrhotic patients and to correlate BCN with clinical and laboratory data to direct attention to this underrecognized renal complication of liver failure. We assessed 114 autopsy cases of cirrhosis for the presence of renal intratubular bile casts using Hall stain for bile. Presence of bile casts was correlated with etiology of cirrhosis, clinical and laboratory data, and histologic findings. Bile casts were identified in 55% of cases. The most common etiology of cirrhosis was hepatitis C virus (HCV) infection (52%), and serum creatinine ( P  = .02) and serum urea nitrogen ( P  = .01) were significantly higher in the Hall-positive group. Conjugated bilirubin was below 20 mg/dL in 90%, and levels below 10 mg/dL were noted in 80% of cases. To our knowledge, this is the largest study of BCN in human subjects and a first report describing the association of BCN with HCV-related cirrhosis. We demonstrated that in the face of protracted chronic hyperbilirubinemia, bile casts are formed at much lower bilirubin levels than previously thought. Furthermore, we proposed an algorithm to assist in better identification of bile casts. © American Society for Clinical Pathology, 2017. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com

  6. Neglected bacterial zoonoses.

    PubMed

    Chikeka, I; Dumler, J S

    2015-05-01

    Bacterial zoonoses comprise a group of diseases in humans or animals acquired by direct contact with or by oral consumption of contaminated animal materials, or via arthropod vectors. Among neglected infections, bacterial zoonoses are among the most neglected given emerging data on incidence and prevalence as causes of acute febrile illness, even in areas where recognized neglected tropical diseases occur frequently. Although many other bacterial infections could also be considered in this neglected category, five distinct infections stand out because they are globally distributed, are acute febrile diseases, have high rates of morbidity and case fatality, and are reported as commonly as malaria, typhoid or dengue virus infections in carefully designed studies in which broad-spectrum diagnoses are actively sought. This review will focus attention on leptospirosis, relapsing fever borreliosis and rickettsioses, including scrub typhus, murine typhus and spotted fever group rickettsiosis. Of greatest interest is the lack of distinguishing clinical features among these infections when in humans, which confounds diagnosis where laboratory confirmation is lacking, and in regions where clinical diagnosis is often attributed to one of several perceived more common threats. As diseases such as malaria come under improved control, the real impact of these common and under-recognized infections will become evident, as will the requirement for the strategies and allocation of resources for their control. Copyright © 2015 European Society of Clinical Microbiology and Infectious Diseases. Published by Elsevier Ltd. All rights reserved.

  7. Dengue in Thailand and Cambodia: An Assessment of the Degree of Underrecognized Disease Burden Based on Reported Cases

    PubMed Central

    Wichmann, Ole; Yoon, In-Kyu; Vong, Sirenda; Limkittikul, Kriengsak; Gibbons, Robert V.; Mammen, Mammen P.; Ly, Sowath; Buchy, Philippe; Sirivichayakul, Chukiat; Buathong, Rome; Huy, Rekol; Letson, G. William; Sabchareon, Arunee

    2011-01-01

    Background Disease incidence data are needed to guide decision-making for public health interventions. Although dengue is a reportable disease in Thailand and Cambodia, the degree that reported incidence underrecognizes true disease burden is unknown. We utilized dengue incidence calculated from laboratory-confirmed outpatient and inpatient cases in prospective cohort studies to estimate the magnitude of dengue underrecognition and to establish more accurate disease burden estimates for these countries. Methods and Findings Cohort studies were conducted among children aged <15 years by members of a dengue field site consortium over at least 2 dengue seasons. Age-group specific multiplication factors (MFs) were computed by comparing data from three cohort studies to national surveillance data in the same province and year. In Thailand, 14,627 person-years of prospective cohort data were obtained in two provinces and 14,493 person-years from one province in Cambodia. Average annual incidence of laboratory-confirmed dengue was 23/1,000 and 25/1,000 in Thailand, and 41/1,000 in Cambodia. Calculated MFs in these provinces varied by age-group and year (range 0.4–29). Average age-group specific MFs were then applied to country-level reporting data and indicated that in Thailand a median 229,886 (range 210,612–331,236) dengue cases occurred annually during 2003–2007 and a median 111,178 (range 80,452–357,135) cases occurred in Cambodia in children <15 years of age. Average underrecognition of total and inpatient dengue cases was 8.7 and 2.6-fold in Thailand, and 9.1 and 1.4-fold in Cambodia, respectively. During the high-incidence year 2007, >95,000 children in Thailand and >58,000 children in Cambodia were estimated to be hospitalized due to dengue. Conclusion Calculating MFs by comparing prospective cohort study data to locally-reported national surveillance data is one approach to more accurately assess disease burden. These data indicate that although dengue is regularly reported in many countries, national surveillance data significantly underrecognize the true burden of disease. PMID:21468308

  8. Transforming to a computerized system for nursing care: organizational success within Magnet idealism.

    PubMed

    Lindgren, Carolyn L; Elie, Leslie G; Vidal, Elizabeth C; Vasserman, Alex

    2010-01-01

    In reaching the goal for standardized, quality care, a not-for-profit healthcare system consisting of seven institutional entities is transforming nursing practice guidelines, patient care workflow, and patient documents into electronic, online, real-time modalities for use across departments and all healthcare delivery entities of the system. Organizational structure and a strategic plan were developed for the 2-year Clinical Transformation Project. The Siemens Patient Care Document System was adopted and adapted to the hospitals' documentation and information needs. Two fast-track sessions of more than 100 nurses and representatives from other health disciplines were held to standardize assessments, histories, care protocols, and interdisciplinary plans of care for the top 10 diagnostic regulatory groups. Education needs of the users were addressed. After the first year, a productive, functional system is evidenced. For example, the bar-coded Medication Administration Check System is in full use on the clinical units of one of the hospitals, and the other institutional entities are at substantial stages of implementation of Patient Care Documentation System. The project requires significant allocation of personnel and financial resources for a highly functional informatics system that will transform clinical care. The project exemplifies four of the Magnet ideals and serves as a model for others who may be deciding about launching a similar endeavor.

  9. PROGRESS IN ACUTE MYELOID LEUKEMIA

    PubMed Central

    Kadia, Tapan M.; Ravandi, Farhad; O’Brien, Susan; Cortes, Jorge; Kantarjian, Hagop M.

    2014-01-01

    Significant progress has been made in the treatment of acute myeloid leukemia (AML). Steady gains in clinical research and a renaissance of genomics in leukemia have led to improved outcomes. The recognition of tremendous heterogeneity in AML has allowed individualized treatments of specific disease entities within the context of patient age, cytogenetics, and mutational analysis. The following is a comprehensive review of the current state of AML therapy and a roadmap of our approach to these distinct disease entities. PMID:25441110

  10. Primitive myxoid mesenchymal tumor of infancy in a preterm infant.

    PubMed

    Lam, Joseph; Lara-Corrales, Irene; Cammisuli, Salvatore; Somers, Gino R; Pope, Elena

    2010-01-01

    Primitive myxoid mesenchymal tumor of infancy is a recently recognized entity that has been added to the differential diagnosis of myxoid tumors of the soft tissue. Few cases have been reported of this entity in the literature, but none presenting in a preterm infant. We present the case and clinical course of a preterm boy with a primitive myxoid mesenchymal tumor of infancy that occurred following excision of a congenital juvenile xanthogranuloma. © 2010 Wiley Periodicals, Inc.

  11. A database of natural products and chemical entities from marine habitat

    PubMed Central

    Babu, Padavala Ajay; Puppala, Suma Sree; Aswini, Satyavarapu Lakshmi; Vani, Metta Ramya; Kumar, Chinta Narasimha; Prasanna, Tallapragada

    2008-01-01

    Marine compound database consists of marine natural products and chemical entities, collected from various literature sources, which are known to possess bioactivity against human diseases. The database is constructed using html code. The 12 categories of 182 compounds are provided with the source, compound name, 2-dimensional structure, bioactivity and clinical trial information. The database is freely available online and can be accessed at http://www.progenebio.in/mcdb/index.htm PMID:19238254

  12. Polycystic ovary syndrome: perceptions and attitudes of women and primary health care physicians on features of PCOS and renaming the syndrome.

    PubMed

    Teede, Helena; Gibson-Helm, Melanie; Norman, Robert J; Boyle, Jacqueline

    2014-01-01

    Polycystic ovary syndrome (PCOS) is an under-recognized, common, and complex endocrinopathy. The name PCOS is a misnomer, and there have been calls for a change to reflect the broader clinical syndrome. The aim of the study was to determine perceptions held by women and primary health care physicians around key clinical features of PCOS and attitudes toward current and alternative names for the syndrome. We conducted a cross-sectional study utilizing a devised questionnaire. Participants were recruited throughout Australia via professional associations, women's health organizations, and a PCOS support group. Fifty-seven women with PCOS and 105 primary care physicians participated in the study. Perceptions of key clinical PCOS features and attitudes toward current and alternative syndrome names were investigated. Irregular periods were identified as a key clinical feature of PCOS by 86% of the women with PCOS and 90% of the primary care physicians. In both groups, 60% also identified hormone imbalance as a key feature. Among women with PCOS, 47% incorrectly identified ovarian cysts as key, 48% felt the current name is confusing, and 51% supported a change. Most primary care physicians agreed that the name is confusing (74%) and needs changing (81%); however, opinions on specific alternative names were divided. The name "polycystic ovary syndrome" is perceived as confusing, and there is general support for a change to reflect the broader clinical syndrome. Engagement of primary health care physicians and consumers is strongly recommended to ensure that an alternative name enhances understanding and recognition of the syndrome and its complex features.

  13. Gaps in Current Knowledge and Priorities for Future Research in Dry Eye.

    PubMed

    Saldanha, Ian J; Dickersin, Kay; Hutfless, Susan T; Akpek, Esen K

    2017-12-01

    Dry eye, a common yet underrecognized and evolving field, has few recommended treatment algorithms, mostly based on expert consensus rather than robust research evidence. There are high costs associated with managing dry eye and conducting research to identify effective and safe long-term treatments. To support evidence-based management of dry eye, our purpose was to identify and prioritize important clinical research questions for future clinical research. We translated recommendations from the American Academy of Ophthalmology's 2013 Preferred Practice Patterns for dry eye into answerable clinical research questions about treatment effectiveness. Clinicians around the world who manage patients with dry eye rated each question's importance from 0 (not important) to 10 (very important) using a 2-round online Delphi survey. We considered questions as "important" if ≥75% of respondents assigned a rating of 6 or more in round 2. We mapped the identified important clinical research questions to reliable systematic reviews published up to March 2016. Seventy-five clinicians from at least 21 countries completed both Delphi rounds. Among the 58 questions, 24 met our definition of "important": 9/24 and 7/24 addressed topical and systemic treatments, respectively. All 4 questions with the highest 25th percentiles addressed topical treatments. Although 6/24 "important" questions were associated with 4 existing reliable systematic reviews, none of these reviews came to a definitive conclusion about treatment effectiveness. We identified gaps pertaining to treatment options for dry eye. Future clinical research on the management of dry eye should strongly consider these prioritized questions.

  14. Exploring performance issues for a clinical database organized using an entity-attribute-value representation.

    PubMed

    Chen, R S; Nadkarni, P; Marenco, L; Levin, F; Erdos, J; Miller, P L

    2000-01-01

    The entity-attribute-value representation with classes and relationships (EAV/CR) provides a flexible and simple database schema to store heterogeneous biomedical data. In certain circumstances, however, the EAV/CR model is known to retrieve data less efficiently than conventionally based database schemas. To perform a pilot study that systematically quantifies performance differences for database queries directed at real-world microbiology data modeled with EAV/CR and conventional representations, and to explore the relative merits of different EAV/CR query implementation strategies. Clinical microbiology data obtained over a ten-year period were stored using both database models. Query execution times were compared for four clinically oriented attribute-centered and entity-centered queries operating under varying conditions of database size and system memory. The performance characteristics of three different EAV/CR query strategies were also examined. Performance was similar for entity-centered queries in the two database models. Performance in the EAV/CR model was approximately three to five times less efficient than its conventional counterpart for attribute-centered queries. The differences in query efficiency became slightly greater as database size increased, although they were reduced with the addition of system memory. The authors found that EAV/CR queries formulated using multiple, simple SQL statements executed in batch were more efficient than single, large SQL statements. This paper describes a pilot project to explore issues in and compare query performance for EAV/CR and conventional database representations. Although attribute-centered queries were less efficient in the EAV/CR model, these inefficiencies may be addressable, at least in part, by the use of more powerful hardware or more memory, or both.

  15. On the creation of a clinical gold standard corpus in Spanish: Mining adverse drug reactions.

    PubMed

    Oronoz, Maite; Gojenola, Koldo; Pérez, Alicia; de Ilarraza, Arantza Díaz; Casillas, Arantza

    2015-08-01

    The advances achieved in Natural Language Processing make it possible to automatically mine information from electronically created documents. Many Natural Language Processing methods that extract information from texts make use of annotated corpora, but these are scarce in the clinical domain due to legal and ethical issues. In this paper we present the creation of the IxaMed-GS gold standard composed of real electronic health records written in Spanish and manually annotated by experts in pharmacology and pharmacovigilance. The experts mainly annotated entities related to diseases and drugs, but also relationships between entities indicating adverse drug reaction events. To help the experts in the annotation task, we adapted a general corpus linguistic analyzer to the medical domain. The quality of the annotation process in the IxaMed-GS corpus has been assessed by measuring the inter-annotator agreement, which was 90.53% for entities and 82.86% for events. In addition, the corpus has been used for the automatic extraction of adverse drug reaction events using machine learning. Copyright © 2015 Elsevier Inc. All rights reserved.

  16. Compulsive buying: an overlooked entity.

    PubMed

    Basu, Bishnupriya; Basu, Saikat; Basu, Jharna

    2011-08-01

    Compulsive buying is an under-recognised entity among Indian psychiatrists. A Medline search, hand searching of journals and direct communications with lead investigators in compulsive buying have generated numerous studies. Overseas data indicate a community prevalence between 1% and 8% . The phenomenon can be an independent entity or appears as a comorbidity with another axis I or axis II disorder. A degree of suspicion on part of clinician regarding its possible presence is the key to its detection. A few rating instruments are available to quantify the morbidity and screening for compulsive buying. Management involves pharmacotherapy with SSRIs, psychotherapy, self-help groups and self-help books. Epidemiological and clinical studies on compulsive buying should be undertaken by Indian psychiatrists to provide better services for people suffering from compulsive buying.

  17. Scalp Metastasis as the First Sign of Small-Cell Lung Cancer: Management and Literature Review

    PubMed Central

    Salemis, Nikolaos S.; Veloudis, Georgios; Spiliopoulos, Kyriakos; Nakos, Georgios; Vrizidis, Nikolaos; Gourgiotis, Stavros

    2014-01-01

    Cutaneous metastasis from primary visceral malignancy is a relatively uncommon clinical entity, with a reported incidence ranging from 0.22% to 10% among various series. However, the presence of cutaneous metastasis as the first sign of a clinically silent visceral cancer is exceedingly rare. We describe here a case of an asymptomatic male patient who presented with a solitary scalp metastasis as the initial manifestation of an underlying small-cell lung cancer. Diagnostic evaluation revealed advanced disease. We conclude that the possibility of metastatic skin disease should always be considered in the differential diagnosis in patients with a history of smoking or lung cancer presenting with cutaneous nodules. Physicians should be aware of this rare clinical entity, and appropriate investigation should be arranged for early diagnosis and initiation of the appropriate treatment. The prognosis for most patients remains poor. PMID:25058760

  18. Scalp metastasis as the first sign of small-cell lung cancer: management and literature review.

    PubMed

    Salemis, Nikolaos S; Veloudis, Georgios; Spiliopoulos, Kyriakos; Nakos, Georgios; Vrizidis, Nikolaos; Gourgiotis, Stavros

    2014-01-01

    Cutaneous metastasis from primary visceral malignancy is a relatively uncommon clinical entity, with a reported incidence ranging from 0.22% to 10% among various series. However, the presence of cutaneous metastasis as the first sign of a clinically silent visceral cancer is exceedingly rare. We describe here a case of an asymptomatic male patient who presented with a solitary scalp metastasis as the initial manifestation of an underlying small-cell lung cancer. Diagnostic evaluation revealed advanced disease. We conclude that the possibility of metastatic skin disease should always be considered in the differential diagnosis in patients with a history of smoking or lung cancer presenting with cutaneous nodules. Physicians should be aware of this rare clinical entity, and appropriate investigation should be arranged for early diagnosis and initiation of the appropriate treatment. The prognosis for most patients remains poor.

  19. POLG1 mutations and stroke like episodes: a distinct clinical entity rather than an atypical MELAS syndrome.

    PubMed

    Cheldi, Antonella; Ronchi, Dario; Bordoni, Andreina; Bordo, Bianca; Lanfranconi, Silvia; Bellotti, Maria Grazia; Corti, Stefania; Lucchini, Valeria; Sciacco, Monica; Moggio, Maurizio; Baron, Pierluigi; Comi, Giacomo Pietro; Colombo, Antonio; Bersano, Anna

    2013-01-15

    POLG1 mutations have been associated with MELAS-like phenotypes. However given several clinical differences it is unknown whether POLG1 mutations are possible causes of MELAS or give raise to a distinct clinical and genetic entity, named POLG1-associated encephalopathy. We describe a 74 years old man carrying POLG1 mutations presenting with strokes, myopathy and ragged red fibers with some atypical aspects for MELAS such as late onset, lack of cerebral calcification and presence of frontal and occipital MRI lesions better consistent with the POLG associated-encephalopathy spectrum. The lack of available data hampers a definite diagnosis in our patient as well as makes it difficult to compare MELAS, which is a clearly defined clinical syndrome, with POLG1-associated encephalopathy, which is so far a purely molecularly defined syndrome with a quite heterogeneous clinical picture. However, the present report contributes to expand the phenotypic spectrum of POLG1 mutations underlining the importance of searching POLG1 mutations in patients with mitochondrial signs and MELAS like phenotypes but negative for common mtDNA mutations.

  20. Anti-PIT-1 antibody syndrome; a novel clinical entity leading to hypopituitarism.

    PubMed

    Bando, Hironori; Iguchi, Genzo; Yamamoto, Masaaki; Hidaka-Takeno, Ryoko; Takahashi, Yutaka

    2015-03-01

    Various hypothalamic-pituitary diseases cause hypopituitarism. Inflammation related to autoimmunity also causes hypopituitarism. Hypophysitis is a representative disease caused by autoimmunity. Generally, anterior pituitary hormones are non-specifically impaired in this condition, but specific hormone defects have been reported in some cases. Anti-PIT-1 (pituitary-specific transcription factor 1) antibody syndrome is a novel clinical entity that presents an acquired combined pituitary hormone deficiency characterized by a specific defect in growth hormone, prolactin, and thyroid-stimulating hormone. Circulating anti-PIT-1 antibody along with various autoantibodies are detected with multiple endocrine organopathy, meeting the definition of autoimmune polyglandular syndrome. Mechanistically, cytotoxic T lymphocytes that specifically react with PIT-1 protein play an important role in the development of this syndrome.

  1. Unilateral RS3PE in a Patient of Seronegative Rheumatoid Arthritis

    PubMed Central

    Varshney, Ankur Nandan; Kumar, Nilesh; Tiwari, Ashutosh; Anand, Ravi; Prasad, Sashi Ranjan; Anand, Arvind; Mishra, Abhinandan; Singh, N. K.

    2013-01-01

    Remitting seronegative symmetrical synovitis with pitting edema (RS3PE) is a rare but well-reported clinical entity. It is classically described as symmetrical involvement of both upper extremities. Asymmetrical involvement had also been reported, but unilateral presentation is very rare. We hereby report a case of unilateral RS3PE in a patient of seronegative rheumatoid arthritis which was initially misdiagnosed as cellulitis and was given high dose antibiotics without any significant improvement. Later a rheumatologic consultation leads to a prompt diagnosis, and treatment with steroids leads to dramatic reversal of symptoms. This case demonstrates the rare presentation of this rare clinical entity and highlights the necessity of awareness regarding unilateral disease to clinicians. PMID:23662237

  2. Machine learning to parse breast pathology reports in Chinese.

    PubMed

    Tang, Rong; Ouyang, Lizhi; Li, Clara; He, Yue; Griffin, Molly; Taghian, Alphonse; Smith, Barbara; Yala, Adam; Barzilay, Regina; Hughes, Kevin

    2018-06-01

    Large structured databases of pathology findings are valuable in deriving new clinical insights. However, they are labor intensive to create and generally require manual annotation. There has been some work in the bioinformatics community to support automating this work via machine learning in English. Our contribution is to provide an automated approach to construct such structured databases in Chinese, and to set the stage for extraction from other languages. We collected 2104 de-identified Chinese benign and malignant breast pathology reports from Hunan Cancer Hospital. Physicians with native Chinese proficiency reviewed the reports and annotated a variety of binary and numerical pathologic entities. After excluding 78 cases with a bilateral lesion in the same report, 1216 cases were used as a training set for the algorithm, which was then refined by 405 development cases. The Natural language processing algorithm was tested by using the remaining 405 cases to evaluate the machine learning outcome. The model was used to extract 13 binary entities and 8 numerical entities. When compared to physicians with native Chinese proficiency, the model showed a per-entity accuracy from 91 to 100% for all common diagnoses on the test set. The overall accuracy of binary entities was 98% and of numerical entities was 95%. In a per-report evaluation for binary entities with more than 100 training cases, 85% of all the testing reports were completely correct and 11% had an error in 1 out of 22 entities. We have demonstrated that Chinese breast pathology reports can be automatically parsed into structured data using standard machine learning approaches. The results of our study demonstrate that techniques effective in parsing English reports can be scaled to other languages.

  3. Towards an Obesity-Cancer Knowledge Base: Biomedical Entity Identification and Relation Detection

    PubMed Central

    Lossio-Ventura, Juan Antonio; Hogan, William; Modave, François; Hicks, Amanda; Hanna, Josh; Guo, Yi; He, Zhe; Bian, Jiang

    2017-01-01

    Obesity is associated with increased risks of various types of cancer, as well as a wide range of other chronic diseases. On the other hand, access to health information activates patient participation, and improve their health outcomes. However, existing online information on obesity and its relationship to cancer is heterogeneous ranging from pre-clinical models and case studies to mere hypothesis-based scientific arguments. A formal knowledge representation (i.e., a semantic knowledge base) would help better organizing and delivering quality health information related to obesity and cancer that consumers need. Nevertheless, current ontologies describing obesity, cancer and related entities are not designed to guide automatic knowledge base construction from heterogeneous information sources. Thus, in this paper, we present methods for named-entity recognition (NER) to extract biomedical entities from scholarly articles and for detecting if two biomedical entities are related, with the long term goal of building a obesity-cancer knowledge base. We leverage both linguistic and statistical approaches in the NER task, which supersedes the state-of-the-art results. Further, based on statistical features extracted from the sentences, our method for relation detection obtains an accuracy of 99.3% and a f-measure of 0.993. PMID:28503356

  4. Sneezing induced by sexual ideation or orgasm: an under-reported phenomenon

    PubMed Central

    Bhutta, Mahmood F; Maxwell, Harold

    2008-01-01

    Summary We describe a hitherto under-recognized curious response in some individuals: of sneezing in response either to sexual ideation or in response to orgasm. Our review suggests that it may be much more common than expected. We surmise that an indiscrete stimulation of the parasympathetic nervous system may be an underlying mechanism to explain this and other reported unusual triggers of sneezing. PMID:19092028

  5. How Academic Psychiatry Can Better Prepare Students for Their Future Patients: Part I--The Failure to Recognize Depression and Risk for Suicide in Primary Care; Problem Identification, Responsibility, and Solutions

    ERIC Educational Resources Information Center

    Lake, C. Raymond

    2008-01-01

    The author, after a review of the relevant literature, found that depression and the risk for suicide remain unacceptably underrecognized in primary care (PC). The negative consequences are substantial for patients and their physicians. Suicide prevention in PC begins with the recognition of depression because suicide occurs largely during…

  6. Smoking is underrecognized as a risk factor for chronic pancreatitis.

    PubMed

    Yadav, Dhiraj; Slivka, Adam; Sherman, Stuart; Hawes, Robert H; Anderson, Michelle A; Burton, Frank R; Brand, Randall E; Lewis, Michele D; Gardner, Timothy B; Gelrud, Andres; Disario, James; Amann, Stephen T; Baillie, John; Lawrence, Christopher; O'Connell, Michael; Lowenfels, Albert B; Banks, Peter A; Whitcomb, David C

    2010-01-01

    Smoking is an established risk factor for chronic pancreatitis (CP). We sought to identify how often and in which CP patients physicians consider smoking to be a risk factor. We analyzed data on CP patients and controls prospectively enrolled from 19 US centers in the North American Pancreatitis Study-2. We noted each subject's self-reported smoking status and quantified the amount and duration of smoking. We noted whether the enrolling physician (gastroenterologist with specific interest in pancreatology) classified alcohol as the etiology for CP and selected smoking as a risk factor. Among 382/535 (71.4%) CP patients who were self-reported ever smokers, physicians cited smoking as a risk factor in only 173/382 (45.3%). Physicians cited smoking as a risk factor more often among current smokers, when classifying alcohol as CP etiology, and with higher amount and duration of smoking. We observed a wide variability in physician decision to cite smoking as a risk factor. Multivariable regression analysis however confirmed that the association of CP with smoking was independent of physician decision to cite smoking as a risk factor. Physicians often underrecognize smoking as a CP risk factor. Efforts are needed to raise awareness of the association between smoking and CP. and IAP. Copyright © 2011 S. Karger AG, Basel.

  7. Globulomaxillary cysts--do they really exist?

    PubMed

    Dammer, U; Driemel, O; Mohren, W; Giedl, C; Reichert, T E

    2014-01-01

    The so-called "globulomaxillary cyst", described as a fissural cyst, caused by entrapped epithelium between the nasal and maxillary process, is no longer considered for its own entity. Nevertheless, cystic lesions, which correspond to the previous image of globulomaxillary cysts, do still occur in daily practice. This raises the question to which entities pathological processes in this particular region actually belong to. In a retrospective study, 17 cases (12 men and 5 women, 12-59 years old) of primarily diagnosed globulomaxillary cysts are analysed according to clinical, radiological and histological aspects, catamnestic processed and assigned to a new entity. The results are compared with the international literature and draws conclusions on the diagnostic and therapeutic procedure. Seven lateral periodontal cysts, four radicular cysts, two keratocystic odontogenic tumours, one adenomatoid odontogenic tumour, one periapical granuloma, one residual cyst and one undefined jaw cyst were determined. According to the results of our study and the data from the international literature, the entity globulomaxillary cyst is no longer justified.

  8. Update from the 4th Edition of the World Health Organization Classification of Head and Neck Tumours: Tumors of the Salivary Gland.

    PubMed

    Seethala, Raja R; Stenman, Göran

    2017-03-01

    The salivary gland section in the 4th edition of the World Health Organization classification of head and neck tumors features the description and inclusion of several entities, the most significant of which is represented by (mammary analogue) secretory carcinoma. This entity was extracted mainly from acinic cell carcinoma based on recapitulation of breast secretory carcinoma and a shared ETV6-NTRK3 gene fusion. Also new is the subsection of "Other epithelial lesions," for which key entities include sclerosing polycystic adenosis and intercalated duct hyperplasia. Many entities have been compressed into their broader categories given clinical and morphologic similarities, or transitioned to a different grouping as was the case with low-grade cribriform cystadenocarcinoma reclassified as intraductal carcinoma (with the applied qualifier of low-grade). Specific grade has been removed from the names of the salivary gland entities such as polymorphous adenocarcinoma, providing pathologists flexibility in assigning grade and allowing for recognition of a broader spectrum within an entity. Cribriform adenocarcinoma of (minor) salivary gland origin continues to be divisive in terms of whether it should be recognized as a distinct category. This chapter also features new key concepts such as high-grade transformation. The new paradigm of translocations and gene fusions being common in salivary gland tumors is featured heavily in this chapter.

  9. Pain management in older adults.

    PubMed

    Tracy, Bridget; Sean Morrison, R

    2013-11-01

    Chronic pain is prevalent among older adults but is underrecognized and undertreated. The approach to pain assessment and management in older adults requires an understanding of the physiology of aging, validated assessment tools, and common pain presentations among older adults. To identify the overall principles of pain management in older adults with a specific focus on common painful conditions and approaches to pharmacologic treatment. We searched PubMed for common pain presentations in older adults with heart failure, end-stage renal disease, dementia, frailty, and cancer. We also reviewed guidelines for pain management. Our review encompassed 2 guidelines, 10 original studies, and 22 review articles published from 2000 to the present. This review does not discuss nonpharmacologic treatments of pain. Clinical guidelines support the use of opioids in persistent nonmalignant pain. Opioids should be used in patients with moderate or severe pain or pain not otherwise controlled but with careful attention to potential toxic effects and half-life. In addition, clinical practice guidelines recommend use of oral nonsteroidal anti-inflammatory drugs with extreme caution and for defined, limited periods. An understanding of the basics of pain pathophysiology, assessment, pharmacologic management, and a familiarity with common pain presentations will allow clinicians to effectively manage pain for older adults. © 2013 Elsevier HS Journals, Inc. All rights reserved.

  10. Obsessive-compulsive disorder in the Veterans Health Administration.

    PubMed

    Barrera, Terri L; McIngvale, Elizabeth; Lindsay, Jan A; Walder, Annette M; Kauth, Michael R; Smith, Tracey L; Van Kirk, Nathaniel; Teng, Ellen J; Stanley, Melinda A

    2018-05-24

    Little is known about the diagnosis and treatment of obsessive-compulsive disorder (OCD) in the Veterans Health Administration (VHA). This study examined diagnostic rates of OCD in a national sample of veterans as well as clinical comorbidities and mental health service use following an OCD diagnosis. This study used administrative data extracted from VHA medical records to identify patients with an OCD diagnosis between 2010 and 2011 (N = 20,364). Descriptive analyses examined demographic, clinical, and system-level variables associated with OCD diagnosis as well as mental health service use in a subset of patients newly diagnosed with OCD (n = 5,229). The OCD diagnosis rate in VHA medical records was 0.31% of VHA patients seen in 2010-2011. Examination of new-onset OCD diagnoses in 2010-2011 revealed that OCD was most likely to be diagnosed by physicians (48.6%) and behavioral health providers (31.9%), predominantly in mental health settings (87.5%). In the year following OCD diagnosis, veterans had an average of 3.9 individual psychotherapy and 3.5 psychiatric medication visits. These findings suggest that OCD is likely underrecognized and inadequately treated in the VHA and highlight the need for improved diagnostic and treatment services for veterans with OCD. (PsycINFO Database Record (c) 2018 APA, all rights reserved).

  11. Neglected Bacterial Zoonoses

    PubMed Central

    Chikeka, Ijeuru; Dumler, J. Stephen

    2015-01-01

    Bacterial zoonoses comprise a group of diseases in humans or animals acquired by direct contact with or by oral consumption of contaminated animal materials, or via arthropod vectors. Among neglected infections, bacterial zoonoses are among the most neglected given emerging data on incidence and prevalence as causes of acute febrile illness, even in areas where recognized neglected tropical diseases occur frequently. While many other bacterial infections could also be considered in this neglected category, five distinct infections stand out because they are globally distributed, are acute febrile diseases, have high rates of morbidity and case fatality, and are reported as commonly as malaria, typhoid or dengue virus infections in carefully designed studies in which a broad spectrum diagnoses are actively sought. Thus, this review will focus attention on leptospirosis, relapsing fever borreliosis, and rickettsioses, including scrub typhus, murine typhus and spotted fever group rickettsiosis. Of greatest interest is the lack of distinguishing clinical features among these infections when in humans, which confounds diagnosis where laboratory confirmation is lacking, and in regions where clinical diagnosis is often attributed to one of several perceived more common threats. As diseases such as malaria come under improved control, the real impact of these common and under-recognized infections will become evident, as will the requirement for the strategies and allocation of resources for their control. PMID:25964152

  12. Congenital abnormalities of the inferior vena cava presenting clinically in adolescent males.

    PubMed

    Halparin, Jessica; Monagle, Paul; Newall, Fiona

    2015-04-01

    Congenital anatomic abnormality of the inferior vena cava (IVC) is an important risk factor for the development of spontaneous proximal lower extremity deep vein thrombosis (DVT) in young adults. The incidence of DVT associated with congenital IVC anomalies in paediatric populations has not been described, and the implications of IVC anomalies for treatment and outcomes of DVT are unknown. This study reports a series of five adolescent males with spontaneous lower extremity DVTs and underlying congenital IVC abnormalities. Cases were identified by searching the institutional database of patients treated with anticoagulation for venous thromboembolism at a tertiary children's hospital. The demographics, clinical presentations, imaging findings, treatment courses, and outcomes are described. All cases occurred in males, and accounted for approximately twenty percent of adolescent males presenting with DVT. IVC abnormality is likely an under-recognized risk factor for DVT in this age group, and detailed vascular imaging should be pursued in adolescents with spontaneous proximal lower extremity DVT when initial ultrasonography does not delineate the proximal clot extent. Management requires individual risk-benefit assessment in the context of providing developmentally appropriate care. Further research is required to establish long-term outcomes and determine optimal treatment strategies. Copyright © 2015 Elsevier Ltd. All rights reserved.

  13. 42 CFR 55a.102 - Who is eligible to apply for a Black Lung clinics grant?

    Code of Federal Regulations, 2011 CFR

    2011-10-01

    ... 42 Public Health 1 2011-10-01 2011-10-01 false Who is eligible to apply for a Black Lung clinics... SERVICES GRANTS PROGRAM GRANTS FOR BLACK LUNG CLINICS General Provisions § 55a.102 Who is eligible to apply for a Black Lung clinics grant? Any State or public or private entity may apply for a grant under this...

  14. 42 CFR 55a.102 - Who is eligible to apply for a Black Lung clinics grant?

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 42 Public Health 1 2010-10-01 2010-10-01 false Who is eligible to apply for a Black Lung clinics... SERVICES GRANTS PROGRAM GRANTS FOR BLACK LUNG CLINICS General Provisions § 55a.102 Who is eligible to apply for a Black Lung clinics grant? Any State or public or private entity may apply for a grant under this...

  15. [Pain disorders in traumatized individuals - neurophysiology and clinical presentation].

    PubMed

    Egloff, N; Hirschi, A; von Känel, R

    2012-01-18

    This overview portrays the salient physiological mechanisms being involved in the clinical manifestation of chronic pain in traumatized patients. A «hypermnesia-hyperarousal-model» is purported to support the neurophysiologic plausibility of the trauma-pain-relationship. We discuss seven characteristic clinical pain entities which alone or in combination can be found in patients with a previous psychological trauma.

  16. Mining heart disease risk factors in clinical text with named entity recognition and distributional semantic models.

    PubMed

    Urbain, Jay

    2015-12-01

    We present the design, and analyze the performance of a multi-stage natural language processing system employing named entity recognition, Bayesian statistics, and rule logic to identify and characterize heart disease risk factor events in diabetic patients over time. The system was originally developed for the 2014 i2b2 Challenges in Natural Language in Clinical Data. The system's strengths included a high level of accuracy for identifying named entities associated with heart disease risk factor events. The system's primary weakness was due to inaccuracies when characterizing the attributes of some events. For example, determining the relative time of an event with respect to the record date, whether an event is attributable to the patient's history or the patient's family history, and differentiating between current and prior smoking status. We believe these inaccuracies were due in large part to the lack of an effective approach for integrating context into our event detection model. To address these inaccuracies, we explore the addition of a distributional semantic model for characterizing contextual evidence of heart disease risk factor events. Using this semantic model, we raise our initial 2014 i2b2 Challenges in Natural Language of Clinical data F1 score of 0.838 to 0.890 and increased precision by 10.3% without use of any lexicons that might bias our results. Copyright © 2015 Elsevier Inc. All rights reserved.

  17. Mondor's disease of the breast. A retrospective review.

    PubMed

    Salemis, Nikolaos S; Merkouris, Stamatios; Kimpouri, Konstantina

    2011-01-01

    Mondor's disease is a rare benign clinical entity characterized by thrombophlebitis of the superficial veins of the anterolateral thoraco-abdominal wall. Although several predisposing factors have been reported, the exact pathogenesis remains unclear. We retrospectively reviewed the medical records of all patients older than 14 years who were diagnosed with Mondor's disease of the breast at the Breast Cancer Surgery Unit of Army General Hospital over a 3-year period. Five cases of Mondor's disease were identified among 5717 breast examinations performed during the study period. In 4 patients the disease was considered to be idiopathic. Ultrasonography established the diagnosis in all patients but mammography was inconclusive in two cases due to the presence of dense breast tissue. Four patients received symptomatic treatment. All patients had complete clinical resolution within 2-8 weeks of presentation, and they are well without any evidence of recurrence for 3 to 32 months later. No cases were associated with breast cancer. Mondor's disease of the breast is a rare benign self-limiting clinical entity. Ultrasonography is the diagnostic modality of choice but mammography may be inconclusive in the presence of dense breast tissue. Awareness of this rare entity is mandatory to prevent an unnecessary biopsy whereas the patients should be reassured of the benign nature of this disorder. Thorough evaluation is however necessary to rule out an underlying breast cancer or another systemic disease.

  18. Determining similarity of scientific entities in annotation datasets

    PubMed Central

    Palma, Guillermo; Vidal, Maria-Esther; Haag, Eric; Raschid, Louiqa; Thor, Andreas

    2015-01-01

    Linked Open Data initiatives have made available a diversity of scientific collections where scientists have annotated entities in the datasets with controlled vocabulary terms from ontologies. Annotations encode scientific knowledge, which is captured in annotation datasets. Determining relatedness between annotated entities becomes a building block for pattern mining, e.g. identifying drug–drug relationships may depend on the similarity of the targets that interact with each drug. A diversity of similarity measures has been proposed in the literature to compute relatedness between a pair of entities. Each measure exploits some knowledge including the name, function, relationships with other entities, taxonomic neighborhood and semantic knowledge. We propose a novel general-purpose annotation similarity measure called ‘AnnSim’ that measures the relatedness between two entities based on the similarity of their annotations. We model AnnSim as a 1–1 maximum weight bipartite match and exploit properties of existing solvers to provide an efficient solution. We empirically study the performance of AnnSim on real-world datasets of drugs and disease associations from clinical trials and relationships between drugs and (genomic) targets. Using baselines that include a variety of measures, we identify where AnnSim can provide a deeper understanding of the semantics underlying the relatedness of a pair of entities or where it could lead to predicting new links or identifying potential novel patterns. Although AnnSim does not exploit knowledge or properties of a particular domain, its performance compares well with a variety of state-of-the-art domain-specific measures. Database URL: http://www.yeastgenome.org/ PMID:25725057

  19. Determining similarity of scientific entities in annotation datasets.

    PubMed

    Palma, Guillermo; Vidal, Maria-Esther; Haag, Eric; Raschid, Louiqa; Thor, Andreas

    2015-01-01

    Linked Open Data initiatives have made available a diversity of scientific collections where scientists have annotated entities in the datasets with controlled vocabulary terms from ontologies. Annotations encode scientific knowledge, which is captured in annotation datasets. Determining relatedness between annotated entities becomes a building block for pattern mining, e.g. identifying drug-drug relationships may depend on the similarity of the targets that interact with each drug. A diversity of similarity measures has been proposed in the literature to compute relatedness between a pair of entities. Each measure exploits some knowledge including the name, function, relationships with other entities, taxonomic neighborhood and semantic knowledge. We propose a novel general-purpose annotation similarity measure called 'AnnSim' that measures the relatedness between two entities based on the similarity of their annotations. We model AnnSim as a 1-1 maximum weight bipartite match and exploit properties of existing solvers to provide an efficient solution. We empirically study the performance of AnnSim on real-world datasets of drugs and disease associations from clinical trials and relationships between drugs and (genomic) targets. Using baselines that include a variety of measures, we identify where AnnSim can provide a deeper understanding of the semantics underlying the relatedness of a pair of entities or where it could lead to predicting new links or identifying potential novel patterns. Although AnnSim does not exploit knowledge or properties of a particular domain, its performance compares well with a variety of state-of-the-art domain-specific measures. Database URL: http://www.yeastgenome.org/ © The Author(s) 2015. Published by Oxford University Press.

  20. Non compaction cardiomyopathy: Review of a controversial entity.

    PubMed

    Lorca, Rebeca; Rozado, José; Martín, María

    2018-05-11

    Non-compaction cardiomyopathy is a heterogeneous and complex entity concerning which there are still many doubts to be resolved. While the American Heart Association includes it among genetic cardiomyopathies, the European Society of Cardiology treats it as an unclassified cardiomyopathy. It may present in a sporadic or familial form, isolated or associated with other heart diseases, affecting only the left ventricle or both and can sometimes appear as a mixed phenotype in patients with other cardiomyopathies. Different forms of clinical presentation are also associated with its different morphological manifestations, and even non-compaction of the left ventricle may be triggered by other physiological or pathological processes. The purpose of this review is an update of this entity and its controversies. Copyright © 2017 Elsevier España, S.L.U. All rights reserved.

  1. New daily persistent headache: An evolving entity.

    PubMed

    Uniyal, Ravi; Paliwal, Vimal Kumar; Anand, Sucharita; Ambesh, Paurush

    2018-01-01

    New daily persistent headache (NDPH) is characterized by an abrupt onset of headache that becomes a daily entity, is unremitting and continuous from the onset, and lasts for more than 3 months. Dr Walter Vanast first described NDPH in the year 1986. Originally, it was proposed as a chronic daily headache but it was placed under "other primary headaches" in the International Classification of Headache Disorder Second Edition (ICHD 2nd edition). However, with evolving literature and better understanding of its clinical characteristics, it was classified as a "chronic daily headache" in the ICHD 3 rd edition beta. There are still many knowledge-gaps regarding the underlying cause, pathophysiology, natural history and treatment of NDPH. This review tries to revisit the entity and discusses the current status of understanding regarding NDPH.

  2. [Amyloidosis maculosa: diagnosis in primary care].

    PubMed

    Toribio da Pena, S R; Olmos, O; Borbujo, J; Bastos Amigo, J A; Jiménez-Sánchez, F; Alonso, A

    1990-01-01

    Amyloidosis maculosa is a clinical entity with low incidence factor in our medium, which basically affects middle-aged women. The lesion is characterised by the presence of poorly defined, hyperpigmented, brownish or greyish maculae that converge and focus basically on the upper back and shoulders, usually accompanied by pruritus. Three patients were erroneously catalogued for years as having pityriasis versicolor. Two of these patients presented a typical clinical amyloidosis maculosa, and the third presented a less common manifestation of the disease: a single, well-defined lesion in the subscapular region. We believe that the approach to the diagnosis of pityriasis versicolor with hyperpigmented lesions that do not respond to specific treatment should be revised. Although amyloidosis maculosa has a low incidence in our medium, it is an entity which should not be discarded in these cases.

  3. Primary rhabdomyosarcoma of the pineal gland.

    PubMed

    Lau, Steven K M; Cykowski, Matthew D; Desai, Shiv; Cao, Ying; Fuller, Gregory N; Bruner, Janet; Okazaki, Ian

    2015-05-01

    To report a case of primary rhabdomyosarcoma (RMS) of the pineal gland in an adult, as well as review the literature on this rare entity. The case is compared with previous reports of similar entities, with emphasis on this patient's characteristics and clinical presentation, investigations, and management. Diagnosis of primary RMS of the pineal gland was based on the presence of strap cells and multinucleated myotube-like structures, as well as tumor cell expression of skeletal muscle markers consistent with myogenic differentiation. Multimodality treatment was initiated based on pediatric protocols. Unfortunately, the disease progressed on treatment, and the patient survived only 5 months from diagnosis. Pineal RMS is a rare disease with poor prognosis. Optimal management is unknown but likely to involve aggressive multimodality therapy. Copyright© by the American Society for Clinical Pathology.

  4. Splenic Infarction: An Under-recognized Complication of Infectious Mononucleosis?

    PubMed

    Li, Yan; George, Ann; Arnaout, Sami; Wang, Jennifer P; Abraham, George M

    2018-03-01

    Splenic infarction is a rare complication of infectious mononucleosis. We describe 3 cases of splenic infarction attributed to infectious mononucleosis that we encountered within a 2-month period. We underscore the awareness of this potential complication of infectious mononucleosis and discuss the differential diagnosis of splenic infarction, including infectious etiologies. While symptomatic management is usually sufficient for infectious mononucleosis-associated splenic infarction, close monitoring for other complications, including splenic rupture, is mandated.

  5. Why tobacco is a women's health issue.

    PubMed

    Sarna, Linda; Bialous, Stella Aguinaga

    2004-03-01

    Tobacco use is the leading cause of preventable death amongwomen but is under-recognized as a critical women's health issue. This article provides an overview of the current data about womenand tobacco use, tobacco industry tactics that have resulted in theincreased smoking among women, and gender differences inhealth effects of tobacco use and exposure to secondhand smoke,and in cessation interventions. Resources for clinicians are pro-vided that specifically focus on women and tobacco.

  6. Hypothyroidism: causes, killers, and life-saving treatments.

    PubMed

    Dubbs, Sarah B; Spangler, Ryan

    2014-05-01

    Hypothyroidism is a very common, yet often overlooked disease. It can have a myriad of signs and symptoms, and is often nonspecific. Identification requires analysis of thyroid hormones circulating in the bloodstream, and treatment is simply replacement with exogenous hormone, usually levothyroxine (Synthroid). The deadly manifestation of hypothyroidism is myxedema coma. Similarly nonspecific and underrecognized, treatment with exogenous hormone is necessary to decrease the high mortality rate. Copyright © 2014 Elsevier Inc. All rights reserved.

  7. [Neuritis vestibularis can be a cause of vertigo among children].

    PubMed

    Warner, Tine Caroc; Login, Elke; Petersen, Anita

    2014-10-27

    Neuritis vestibularis (NV) as a cause of vertigo is common among adults but very rare among children and is often underrecognized and underdiagnosed. Viral infection is suspected to be the most common cause and symptoms are sudden onset of vertigo, nausea, vomiting, impaired balance and horizontal nystagmus. This case report describes a three-year-old boy diagnosed with NV. To our knowledge it is the first case diagnosed in Denmark.

  8. Complicated hypertension related to the abuse of ephedrine and caffeine alkaloids.

    PubMed

    Berman, Jeffrey A; Setty, Arathi; Steiner, Matthew J; Kaufman, Kenneth R; Skotzko, Christine

    2006-01-01

    Ephedra containing products (ECPs), which most often contain additional sources of caffeine alkaloids, may be an under-recognized cause of hypertension. ECPs, especially when used in combination or at higher than recommended doses, can cause life-threatening cardiovascular and neurological complications. We present a case of hypertensive encephalopathy with new onset generalized tonic-clonic seizure secondary to concomitant use of two OTC supplements containing a mixture of ephedrine and caffeine alkaloids.

  9. Sleep duration is associated with dyslipidemia in patients with bipolar disorder in clinical remission.

    PubMed

    Soreca, I; Wallace, M L; Frank, E; Hasler, B P; Levenson, J C; Kupfer, D J

    2012-12-10

    The pathways to increased cardiovascular risk in bipolar disorder include health behaviors, psychosocial stress and long-term medication exposure. However, the evidence that the association between cardiovascular risk factors and bipolar disorder remains significant after controlling for these co-factors suggests that additional important risk factors have yet to be identified. Our hypothesis is that disturbances in the sleep-wake cycle are an important and under-recognized pathway through which affective disorders lead to increased cardiovascular risk. In patients with bipolar disorder type 1 in clinical remission, we: 1) explored whether sleep disturbance predicted the endorsement of NCEP ATP-III criteria for dyslipidemia, independent of other lifestyle factors and 2) tested the association between low HDL (NCEP-ATP III) and sleep duration measured with actigraphy over an eight-day period. Median sleep duration is significantly associated with low HDL. The risk of having low HDL increases by 1.23 with every 30 minutes of reduced sleep time. Since sleep patterns in patients with bipolar disorder are variable and irregular, it is possible that other sleep characteristics, not present during the span of our study, or the variability itself may be what drives the increased cardiovascular risk. Sleep characteristics of patients with bipolar disorder in clinical remission are associated with cardiovascular risk. More specifically, sleep duration was associated with low HDL. Clinicians should pay special attention to sleep hygiene in treating individuals with bipolar disorder, even when they are in clinical remission. Copyright © 2012 Elsevier B.V. All rights reserved.

  10. Complex posttraumatic stress disorder: The need to consolidate a distinct clinical syndrome or to reevaluate features of psychiatric disorders following interpersonal trauma?

    PubMed

    Giourou, Evangelia; Skokou, Maria; Andrew, Stuart P; Alexopoulou, Konstantina; Gourzis, Philippos; Jelastopulu, Eleni

    2018-03-22

    Complex posttraumatic stress disorder (Complex PTSD) has been recently proposed as a distinct clinical entity in the WHO International Classification of Diseases, 11 th version, due to be published, two decades after its first initiation. It is described as an enhanced version of the current definition of PTSD, with clinical features of PTSD plus three additional clusters of symptoms namely emotional dysregulation, negative self-cognitions and interpersonal hardship, thus resembling the clinical features commonly encountered in borderline personality disorder (BPD). Complex PTSD is related to complex trauma which is defined by its threatening and entrapping context, generally interpersonal in nature. In this manuscript, we review the current findings related to traumatic events predisposing the above-mentioned disorders as well as the biological correlates surrounding them, along with their clinical features. Furthermore, we suggest that besides the present distinct clinical diagnoses (PTSD; Complex PTSD; BPD), there is a cluster of these comorbid disorders, that follow a continuum of trauma and biological severity on a spectrum of common or similar clinical features and should be treated as such. More studies are needed to confirm or reject this hypothesis, particularly in clinical terms and how they correlate to clinical entities' biological background, endorsing a shift from the phenomenologically only classification of psychiatric disorders towards a more biologically validated classification.

  11. 45 CFR 60.12 - Reporting adverse actions taken against clinical privileges.

    Code of Federal Regulations, 2014 CFR

    2014-10-01

    ... privileges of a physician or dentist for a period longer than 30 days, (ii) Acceptance of the surrender of clinical privileges or any restriction of such privileges by a physician or dentist: (A) While the physician or dentist is under investigation by the health care entity relating to possible incompetence or...

  12. 45 CFR 60.12 - Reporting adverse actions taken against clinical privileges.

    Code of Federal Regulations, 2013 CFR

    2013-10-01

    ... privileges of a physician or dentist for a period longer than 30 days, (ii) Acceptance of the surrender of clinical privileges or any restriction of such privileges by a physician or dentist: (A) While the physician or dentist is under investigation by the health care entity relating to possible incompetence or...

  13. Progress toward Development of a Vaccine against Congenital Cytomegalovirus Infection

    PubMed Central

    Permar, Sallie R.; Plotkin, Stanley A.

    2017-01-01

    ABSTRACT A vaccine against congenital human cytomegalovirus (CMV) infection is a major public health priority. Congenital CMV causes substantial long-term morbidity, particularly sensorineural hearing loss (SNHL), in newborns, and the public health impact of this infection on maternal and child health is underrecognized. Although progress toward development of a vaccine has been limited by an incomplete understanding of the correlates of protective immunity for the fetus, knowledge about some of the key components of the maternal immune response necessary for preventing transplacental transmission is accumulating. Moreover, although there have been concerns raised about observations indicating that maternal seropositivity does not fully prevent recurrent maternal CMV infections during pregnancy, it is becoming increasing clear that preconception immunity does confer some measure of protection against both CMV transmission and CMV disease (if transmission occurs) in the newborn infant. Although the immunity to CMV conferred by both infection and vaccination is imperfect, there are encouraging data emerging from clinical trials demonstrating the immunogenicity and potential efficacy of candidate CMV vaccines. In the face of the knowledge that between 20,000 and 30,000 infants are born with congenital CMV in the United States every year, there is an urgent and compelling need to accelerate the pace of vaccine trials. In this minireview, we summarize the status of CMV vaccines in clinical trials and provide a perspective on what would be required for a CMV immunization program to become incorporated into clinical practice. PMID:29046308

  14. Update on New Daily Persistent Headache.

    PubMed

    Nierenburg, Hida; Newman, Lawrence C

    2016-06-01

    New daily persistent headache (NDPH) is an uncommon and under-recognized primary headache disorder. Clinically, NDPH may resemble migraine or tension-type headache. Unlike migraine or tension-type headaches, however, a distinguishing feature of NDPH is that the majority of patients with NDPH can pinpoint the exact date of onset of symptoms. While cases can arise de novo, in multiple reports, a viral illness precedes the onset of headache. NDPH has two temporal profiles: a self-limited form that resolves spontaneously without treatment and a refractory, persistent form in which headaches continue unabated for years. Diagnosis is predicated on first eliminating secondary mimics via diagnostic imaging and hematological studies. Lumbar puncture should be considered in patients who are refractory to treatment to search for alterations in CSF pressure or for an infectious process. There have been no randomized clinical trials utilizing acute or preventive therapies for NDPH. In clinical practice, treatment is aimed at matching the predominant headache phenotype; nonetheless, most therapies are generally ineffective or only partially effective. Not surprisingly, medication overuse is very common among patients with this disorder and should be identified, although in most patients, eliminating medication overuse does not alter the course of the illness. There have been reports of successful treatment combining doxycycline 100 mg and montelukast 10 mg, dosed BID for 3 months. Anecdotally, in our practice, this combination has occasionally provided good results. Onabotulinum toxin injections are currently under investigation and may provide a potential new effective treatment regimen.

  15. The why, when and how to test for obstructive sleep apnea in patients with atrial fibrillation.

    PubMed

    Desteghe, Lien; Hendriks, Jeroen M L; McEvoy, R Doug; Chai-Coetzer, Ching Li; Dendale, Paul; Sanders, Prashanthan; Heidbuchel, Hein; Linz, Dominik

    2018-04-12

    Sleep apnea is associated with increased cardiovascular risk and may be important in atrial fibrillation (AF) management. It is present in up to 62% of the AF population and is highly under-recognized and underdiagnosed. Obstructive sleep apnea (OSA) is strongly associated with AF and non-randomized trials have shown that its treatment can help to reduce AF recurrences and maintain sinus rhythm. The 2016 European Society of Cardiology guidelines for the management of AF recommend that AF patients should be questioned regarding the symptoms of OSA and that OSA-treatment should be optimized to improve AF treatment results. However, strategies on how to implement OSA testing in the standard work-up of AF patients are not provided in the guidelines. Additionally, overnight OSA monitoring rather than interrogation for OSA-related clinical signs alone may be necessary to reliably identify OSA in the majority of AF patients. This review summarizes the available clinical data on OSA in AF patients, and discusses the following key questions: Why and When is testing for OSA needed in AF patients? How and Where should it be performed and coordinated? and Who should test for OSA? To implement OSA testing in a cardiology or electrophysiology clinic, we propose a multidisciplinary integrated care approach based on a chronic care model. We describe the tools, infrastructure and coordination needed to test for OSA in the standard workup of patients with symptomatic AF prior to the initiation of directed invasive or pharmacological rhythm control management.

  16. Is undifferentiated spondyloarthritis a discrete entity? A debate.

    PubMed

    Deodhar, Atul; Miossec, Pierre; Baraliakos, Xenofon

    2018-01-01

    The concept of undifferentiated spondyloarthritis has been introduced recently to describe a clinical setting where the classical features of spondyloarthritis (SpA) are not fully present. Whether this is a discrete entity was the basis of a debate during the 4th International Congress on Controversies in Rheumatology & Autoimmunity held in Bologna, Italy 9-11 March 2017. The pro and con aspects of the debate are presented. The implications of the debate are important ranging from diagnostic aspects to consequences for the society and the payers. Copyright © 2017 Elsevier B.V. All rights reserved.

  17. Gastric Volvulus: A Rare Entity Case Report and Literature Review

    PubMed Central

    Akhtar, Aisha; Sheikh, Abdul Ahad E; Sheikh, Abu Baker; Perisetti, Abhilash

    2018-01-01

    Gastric volvulus is a rare entity defined as an abnormal rotation of the stomach around itself. It is a diagnosis of exclusion; the clinical index of suspicion is always low and is mostly diagnosed on imaging or on the surgery table. When it occurs, it is an emergency due to the risk of strangulation and consequent gangrene of the stomach. Mesentero-axial (MA) gastric volvuli constitute one-third of all cases. Here, we are present an interesting case of acute MA gastric volvulus diagnosed with imaging and treated subsequently. PMID:29755908

  18. Lenticular fibroxanthomatous nodule.

    PubMed

    Lee, Seok J; Ling, Jun X; Aaberg, Thomas M; Grossniklaus, Hans E

    2003-02-01

    To describe two patients with unique lenticular nodular proliferations. Observational case reports. The clinical histories and pathologic findings of two patients with lenticular nodular proliferations were reviewed. One patient with persistent hyperplastic primary vitreous and another patient with trauma developed lenticular nodular proliferations. The nodules were vascularized collections of foamy histiocytes, multinucleated cells, lens capsule, and lens epithelium that had undergone fibrous metaplasia. The lesions were classified as lenticular fibroxanthomatous nodules. A lenticular fibroxanthomatous nodule is a unique clinicopathologic entity that should be differentiated from Soemmerring ring, Elschnig pearl, and other simulating entities such as juvenile xanthogranuloma.

  19. Current approach in the diagnosis and management of posterior uveitis

    PubMed Central

    Sudharshan, S; Ganesh, Sudha K; Biswas, Jyotrimay

    2010-01-01

    Posterior uveitic entities are varied entities that are infective or non-infective in etiology. They can affect the adjacent structures such as the retina, vitreous, optic nerve head and retinal blood vessels. Thorough clinical evaluation gives a clue to the diagnosis while ancillary investigations and laboratory tests assist in confirming the diagnosis. Newer evolving techniques in the investigations and management have increased the diagnostic yield. In case of diagnostic dilemma, intraocular fluid evaluation for polymerase chain testing for the genome and antibody testing against the causative agent provide greater diagnostic ability. PMID:20029144

  20. The A to Z of healthcare data breaches.

    PubMed

    Kobus, Theodore J

    2012-01-01

    There currently exists a myriad of privacy laws that impact a healthcare entity, including more than 47 notification laws that require notification when a data breach occurs, as well as the breach notification requirements of the Health Information Technology for Economic and Clinical Health Act. Given the plethora of issues a healthcare entity faces, there are certain principles that can be built into an organization's philosophy that will comply with the law and help protect it from reputational harm. © 2012 American Society for Healthcare Risk Management of the American Hospital Association.

  1. Modeling Clinical Information Needs in the Context of a Specific Patient

    PubMed Central

    Price, Susan L.

    2000-01-01

    Investigators have tried various approaches to link clinical information directly to information sources that may contain answers to clinical questions. Developing a model of clinical information needs that may arise in the context of viewing information about a specific patient is a preliminary step to finding an efficient, useful solution to the information retrieval problem. This poster illustrates a method of modeling clinical information needs in the context of a specific patient that that is adapted from entity-relationship models used in database design.

  2. POLG1 mutations and stroke like episodes: a distinct clinical entity rather than an atypical MELAS syndrome

    PubMed Central

    2013-01-01

    Background POLG1 mutations have been associated with MELAS-like phenotypes. However given several clinical differences it is unknown whether POLG1 mutations are possible causes of MELAS or give raise to a distinct clinical and genetic entity, named POLG1-associated encephalopathy. Case presentation We describe a 74 years old man carrying POLG1 mutations presenting with strokes, myopathy and ragged red fibers with some atypical aspects for MELAS such as late onset, lack of cerebral calcification and presence of frontal and occipital MRI lesions better consistent with the POLG associated-encephalopathy spectrum. Conclusion The lack of available data hampers a definite diagnosis in our patient as well as makes it difficult to compare MELAS, which is a clearly defined clinical syndrome, with POLG1-associated encephalopathy, which is so far a purely molecularly defined syndrome with a quite heterogeneous clinical picture. However, the present report contributes to expand the phenotypic spectrum of POLG1 mutations underlining the importance of searching POLG1 mutations in patients with mitochondrial signs and MELAS like phenotypes but negative for common mtDNA mutations. PMID:23324391

  3. The molecular biology of soft-tissue sarcomas and current trends in therapy.

    PubMed

    Quesada, Jorge; Amato, Robert

    2012-01-01

    Basic research in sarcoma models has been fundamental in the discovery of scientific milestones leading to a better understanding of the molecular biology of cancer. Yet, clinical research in sarcoma has lagged behind other cancers because of the multiple clinical and pathological entities that characterize sarcomas and their rarity. Sarcomas encompass a very heterogeneous group of tumors with diverse pathological and clinical overlapping characteristics. Molecular testing has been fundamental in the identification and better definition of more specific entities among this vast array of malignancies. A group of sarcomas are distinguished by specific molecular aberrations such as somatic mutations, intergene deletions, gene amplifications, reciprocal translocations, and complex karyotypes. These and other discoveries have led to a better understanding of the growth signals and the molecular pathways involved in the development of these tumors. These findings are leading to treatment strategies currently under intense investigation. Disruption of the growth signals is being targeted with antagonistic antibodies, tyrosine kinase inhibitors, and inhibitors of several downstream molecules in diverse molecular pathways. Preliminary clinical trials, supported by solid basic research and strong preclinical evidence, promises a new era in the clinical management of these broad spectrum of malignant tumors.

  4. Multimodal molecular analysis of astroblastoma enables reclassification of most cases into more specific molecular entities.

    PubMed

    Wood, Matthew D; Tihan, Tarik; Perry, Arie; Chacko, Geeta; Turner, Clinton; Pu, Cunfeng; Payne, Christopher; Yu, Alexander; Bannykh, Serguei I; Solomon, David A

    2018-03-01

    Astroblastoma is a rare and controversial glioma with variable clinical behavior. The diagnosis currently rests on histologic findings of a circumscribed glioma with astroblastomatous pseudorosettes and vascular hyalinization. Immunohistochemical studies have suggested different oncogenic drivers, such as BRAF p.V600E, but very few cases have been studied using genome-wide methodologies. Recent genomic profiling identified a subset of CNS embryonal tumors with astroblastoma-like morphology that harbored MN1 gene fusions, termed "CNS high-grade neuroepithelial tumors with MN1 alteration" (CNS-HGNET-MN1). To further characterize the genetic alterations that drive astroblastomas, we performed targeted next-generation sequencing (NGS) of 500 cancer-associated genes in a series of eight cases. We correlated these findings with break-apart fluorescence in situ hybridization (FISH) analysis of the MN1 locus and genome-wide DNA methylation profiling. Four cases showed MN1 alteration by FISH, including two pediatric cases that lacked other pathogenic alterations, and two adult cases that harbored other cancer-associated gene mutations or copy number alterations (eg, CDKN2A/B homozygous deletion, TP53, ATM and TERT promoter mutations). Three of these cases grouped with the CNS-HGNET-MN1 entity by methylation profiling. Two of four MN1 intact cases by FISH showed genetic features of either anaplastic pleomorphic xanthoastrocytoma (BRAF p.V600E mutation, CDKN2A/B homozygous deletion and TERT promoter mutation) or IDH-wildtype glioblastoma (trisomy 7, monosomy 10, CDK4 amplification and TP53, NRAS and TERT promoter mutations) and these cases had an aggressive clinical course. Two clinically indolent cases remained unclassifiable despite multimodal molecular analysis. We conclude that astroblastoma histology is not specific for any entity including CNS-HGNET-MN1, and that additional genetic characterization should be considered for astroblastomas, as a number of these tumors likely contain a methylation profile or genetic alterations that suggest classification as other tumor entities. Our heterogeneous molecular findings help to explain the clinical unpredictability of astroblastoma. © 2017 International Society of Neuropathology.

  5. Assessing the Representation of Occupation Information in Free-Text Clinical Documents Across Multiple Sources

    PubMed Central

    Lindemann, Elizabeth A.; Chen, Elizabeth S.; Rajamani, Sripriya; Manohar, Nivedha; Wang, Yan; Melton, Genevieve B.

    2017-01-01

    There has been increasing recognition of the key role of social determinants like occupation on health. Given the relatively poor understanding of occupation information in electronic health records (EHRs), we sought to characterize occupation information within free-text clinical document sources. From six distinct clinical sources, 868 total occupation-related sentences were identified for the study corpus. Building off approaches from previous studies, refined annotation guidelines were created using the National Institute for Occupational Safety and Health Occupational Data for Health data model with elements added to increase granularity. Our corpus generated 2,005 total annotations representing 39 of 41 entity types from the enhanced data model. Highest frequency entities were: Occupation Description (17.7%); Employment Status – Not Specified (12.5%); Employer Name (11.0%); Subject (9.8%); Industry Description (6.2%). Our findings support the value for standardizing entry of EHR occupation information to improve data quality for improved patient care and secondary uses of this information. PMID:29295142

  6. Motor palsies of cranial nerves (excluding VII) after vaccination: reports to the US Vaccine Adverse Event Reporting System.

    PubMed

    Woo, Emily Jane; Winiecki, Scott K; Ou, Alan C

    2014-01-01

    We reviewed cranial nerve palsies, other than VII, that have been reported to the US Vaccine Adverse Event Reporting System (VAERS). We examined patterns for differences in vaccine types, seriousness, age, and clinical characteristics. We identified 68 reports of cranial nerve palsies, most commonly involving the oculomotor (III), trochlear (IV), and abducens (VI) nerves. Isolated cranial nerve palsies, as well as palsies occurring as part of a broader clinical entity, were reported. Forty reports (59%) were classified as serious, suggesting that a cranial nerve palsy may sometimes be the harbinger of a broader and more ominous clinical entity, such as a stroke or encephalomyelitis. There was no conspicuous clustering of live vs. inactivated vaccines. The patient age range spanned the spectrum from infants to the elderly. Independent data may help to clarify whether, when, and to what extent the rates of cranial nerve palsies following particular vaccines may exceed background levels.

  7. Clinically distinct presentations of copper deficiency myeloneuropathy and cytopenias in a patient using excessive zinc-containing denture adhesive.

    PubMed

    Cathcart, Sahara J; Sofronescu, Alina G

    2017-08-01

    While copper deficiency has long been known to cause cytopenias, copper deficiency myeloneuropathy is a more recently described entity. Here, we present the case of two clinically distinct presentations of acquired copper deficiency syndromes secondary to excessive use of zinc-containing denture adhesive over five years: myeloneuropathy and severe macrocytic anemia and neutropenia. Extensive laboratory testing and histologic evaluation of the liver and bone marrow, were necessary to rule out other disease processes and establish the diagnosis of copper deficiency. The initial presentation consisted of a myelopathy involving the posterior columns. Serum and urine copper were significantly decreased, and serum zinc was elevated. On second presentation (five years later), multiple hematological abnormalities were detected. Serum copper was again decreased, while serum zinc was elevated. Zinc overload is a preventable cause of copper deficiency syndromes. This rare entity presented herein highlights the importance of patient, as well as provider, education. Copyright © 2017 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved.

  8. A Dimensional Bus model for integrating clinical and research data.

    PubMed

    Wade, Ted D; Hum, Richard C; Murphy, James R

    2011-12-01

    Many clinical research data integration platforms rely on the Entity-Attribute-Value model because of its flexibility, even though it presents problems in query formulation and execution time. The authors sought more balance in these traits. Borrowing concepts from Entity-Attribute-Value and from enterprise data warehousing, the authors designed an alternative called the Dimensional Bus model and used it to integrate electronic medical record, sponsored study, and biorepository data. Each type of observational collection has its own table, and the structure of these tables varies to suit the source data. The observational tables are linked to the Bus, which holds provenance information and links to various classificatory dimensions that amplify the meaning of the data or facilitate its query and exposure management. The authors implemented a Bus-based clinical research data repository with a query system that flexibly manages data access and confidentiality, facilitates catalog search, and readily formulates and compiles complex queries. The design provides a workable way to manage and query mixed schemas in a data warehouse.

  9. Nutritional Aspects of Dysphagia Management.

    PubMed

    Gallegos, C; Brito-de la Fuente, E; Clavé, P; Costa, A; Assegehegn, G

    This chapter describes the nutritional aspects of dysphagia management by starting with the definition of these two conditions (dysphagia and malnutrition) that share three main clinical characteristics: (a) their prevalence is very high, (b) they can lead to severe complications, and (c) they are frequently underrecognized and neglected conditions. From an anatomical standpoint, dysphagia can result from oropharyngeal and/or esophageal causes; from a pathophysiological perspective, dysphagia can be caused by organic or structural diseases (either benign or malignant) or diseases causing impaired physiology (mainly motility and/or perception disorders). This chapter gathers up-to-date information on the screening and diagnosis of oropharyngeal dysphagia, the consequences of dysphagia (aspiration pneumonia, malnutrition, and dehydration), and on the nutritional management of dysphagic patients. Concerning this last topic, this chapter reviews the rheological aspects of swallowing and dysphagia (including shear and elongational flows) and its influence on the characteristics of the enteral nutrition for dysphagia management (solid/semisolid foods and thickened liquids; ready-to-use oral nutritional supplements and thickening powders), with special focus on the real characteristics of the bolus after mixing with human saliva. © 2017 Elsevier Inc. All rights reserved.

  10. A new diagnosis of Williams-Beuren syndrome in a 49-year-old man with severe bullous emphysema.

    PubMed

    Wojcik, Monica H; Carmichael, Nikkola; Bieber, Frederick R; Wiener, Daniel C; Madan, Rachna; Pober, Barbara R; Raby, Benjamin A

    2017-08-01

    Williams-Beuren syndrome (WBS) is a chromosomal microdeletion syndrome typically presenting with intellectual disability, a unique personality, a characteristic facial appearance, and cardiovascular disease. Several clinical features of WBS are thought to be due to haploinsufficiency of elastin (ELN), as the ELN locus is included within the WBS critical region at 7q11.23. Emphysema, a disease attributed to destruction of pulmonary elastic fibers, has been reported in patients without WBS who have pathogenic variants in ELN but only once (in one patient) in WBS. Here we report a second adult WBS patient with emphysema where the diagnosis of WBS was established subsequent to the discovery of severe bullous emphysema. Haploinsufficiency of ELN likely contributed to this pulmonary manifestation of WBS. This case emphasizes the contribution of rare genetic variation in cases of severe emphysema and provides further evidence that emphysema should be considered in patients with WBS who have respiratory symptoms, as it may be under-recognized in this patient population. © 2017 Wiley Periodicals, Inc.

  11. LC3 and p62 as diagnostic markers of drug-induced autophagic vacuolar cardiomyopathy: a study of 3 cases.

    PubMed

    Daniels, Brianne H; McComb, Rodney D; Mobley, Bret C; Gultekin, Sakir Humayun; Lee, Han S; Margeta, Marta

    2013-07-01

    Autophagic vacuolar cardiomyopathy is an underrecognized, but potentially fatal, complication of treatment with chloroquine (CQ) and its derivative hydroxychloroquine (HCQ), which are used as therapy for malaria and common connective tissue disorders. Currently, the diagnosis of autophagic vacuolar cardiomyopathy is established through an endomyocardial biopsy and requires electron microscopy, which is not widely available and has a significant potential for sampling error. Recently, we have reported that immunohistochemistry for autophagic markers LC3 and p62 can replace electron microscopy in the diagnosis of HCQ-induced and colchicine-induced autophagic vacuolar skeletal myopathies. In the current study, we use 3 cases of CQ-induced or HCQ-induced cardiomyopathy and 1 HCQ-treated control case to show that the same two markers can be used to diagnose autophagic vacuolar cardiomyopathies by light microscopy. CQ-induced or HCQ-induced autophagic vacuolar cardiomyopathy is not universally fatal, but successful treatment requires early detection. By lowering the barriers to diagnosis, the application of these immunohistochemical markers will decrease the number of misdiagnosed patients, thus increasing the likelihood of favorable clinical outcomes.

  12. Depression screening for patients with epilepsy in a primary care setting using the Patient Health Questionnaire-2 and the Neurological Disorders Depression Inventory for Epilepsy.

    PubMed

    Margrove, Kerrie; Mensah, Seth; Thapar, Ajay; Kerr, Michael

    2011-08-01

    Depression among people with a diagnosis of epilepsy is under-recognized. General practitioner (GP) screening for depression using a new scale developed specifically for patients with epilepsy, the Neurological Disorders Depression Inventory for Epilepsy (NDDI-E), has not before been reported. The aims were to examine the process of GP screening for depression in patients with epilepsy employing the widely used Patient Health Questionnaire-2 (PHQ-2) and the NDDI-E; to determine the impact of screening on GP-recognized depression; and to ascertain depression predictors. Patients were screened via their GPs. A subset of participants underwent clinical interview to assess screener accuracy. Use of either instrument almost doubled the proportion of GP-recognized depression. Ninety-four percent of those interviewed found screening acceptable. More recent and frequent seizures predicted screening positive. The results suggest that screening for depression in patients with epilepsy via GPs improves detection of depression and is acceptable to interviewed patients. Copyright © 2011 Elsevier Inc. All rights reserved.

  13. The management of neuroendocrine tumours: A nutritional viewpoint.

    PubMed

    Gallo, Marco; Muscogiuri, Giovanna; Pizza, Genoveffa; Ruggeri, Rosaria Maddalena; Barrea, Luigi; Faggiano, Antongiulio; Colao, Annamaria

    2017-11-29

    Nutritional status in patients with neuroendocrine tumours (NETs), especially of gastroenteropancreatic origin, can be deeply affected by excessive production of gastrointestinal hormones, peptides, and amines, which can lead to malabsorption, diarrhoea, steatorrhea, and altered gastrointestinal motility. Besides, the surgical and/or medical management of NETs can lead to alteration of gastrointestinal secretory, motor, and absorptive functions, with both dietary and nutritional consequences. Indeed, disease-related malnutrition is a frequently encountered yet both underrecognized and understudied clinical phenomenon in patients with NETs, with substantial prognostic and socioeconomic consequences. Most of these conditions can be alleviated by a tailored nutritional approach, also with the aim of improving the efficacy of cancer treatments. In this setting, skilled nutritionists can play a fundamental role in the multidisciplinary health care team in NETs management and their presence should be recommended. The aim of this review is to provide dietary advices for each specific condition in patients with NETs, underlining the importance of a nutritional approach to treat malnutrition in this setting. Further, we will provide preliminary evidence coming from our data on the assessment of nutritional status in a single cohort of patients with NETs.

  14. Acute Necrotizing Encephalopathy: An Underrecognized Clinicoradiologic Disorder

    PubMed Central

    Wu, Xiujuan; Wu, Wei; Pan, Wei; Wu, Limin; Liu, Kangding; Zhang, Hong-Liang

    2015-01-01

    Acute necrotizing encephalopathy (ANE) is a rare but distinctive type of acute encephalopathy with global distribution. Occurrence of ANE is usually preceded by a virus-associated febrile illness and ensued by rapid deterioration. However, the causal relationship between viral infections and ANE and the exact pathogenesis of ANE remain unclear; both environmental and host factors might be involved. Most cases of ANE are sporadic and nonrecurrent, namely, isolated or sporadic ANE; however, few cases are recurrent and with familial episodes. The recurrent and familial forms of ANE were found to be incompletely autosomal-dominant. Further the missense mutations in the gene encoding the nuclear pore protein Ran Binding Protein 2 (RANBP2) were identified. Although the clinical course and the prognosis of ANE are diverse, the hallmark of neuroradiologic manifestation of ANE is multifocal symmetric brain lesions which are demonstrated by computed tomography (CT) or magnetic resonance imaging (MRI). The treatment of ANE is still under investigation. We summarize the up-to-date knowledge on ANE, with emphasis on prompt diagnosis and better treatment of this rare but fatal disease. PMID:25873770

  15. Current Evaluation of the Millennium Phytomedicine— Ginseng (II): Collected Chemical Entities, Modern Pharmacology, and Clinical Applications Emanated from Traditional Chinese Medicine

    PubMed Central

    Jia, Lee; Zhao, Yuqing; Liang, Xing-Jie

    2009-01-01

    This review, a sequel to part 1 in the series, collects about 107 chemical entities separated from the roots, leaves and flower buds of Panax ginseng, quinquefolius and notoginseng, and categorizes these entities into about 18 groups based on their structural similarity. The bioactivities of these chemical entities are described. The ‘Yin and Yang’ theory and the fundamentals of the ‘five elements’ applied to the traditional Chinese medicine (TCM) are concisely introduced to help readers understand how ginseng balances the dynamic equilibrium of human physiological processes from the TCM perspectives. This paper concerns the observation and experimental investigation of biological activities of ginseng used in the TCM of past and present cultures. The current biological findings of ginseng and its medical applications are narrated and critically discussed, including 1) its antihyperglycemic effect that may benefit type II diabetics; in vitro and in vivo studies demonstrated protection of ginseng on beta-cells and obese diabetic mouse models. The related clinical trial results are stated. 2) its aphrodisiac effect and cardiovascular effect that partially attribute to ginseng’s bioactivity on nitric oxide (NO); 3) its cognitive effect and neuropharmacological effect that are intensively tested in various rat models using purified ginsenosides and show a hope to treat Parkinson’s disease (PD); 4) its uses as an adjuvant or immunotherapeutic agent to enhance immune activity, appetite and life quality of cancer patients during their chemotherapy and radiation. Although the apoptotic effect of ginsenosides, especially Rh2, Rg3 and Compound K, on various tumor cells has been shown via different pathways, their clinical effectiveness remains to be tested. This paper also updates the antioxidant, anti-inflammatory, anti-apoptotic and immune-stimulatory activities of ginseng, its ingredients and commercial products, as well as common side effects of ginseng mainly due to its overdose, and its pharmacokinetics. PMID:19689273

  16. Current evaluation of the millennium phytomedicine- ginseng (II): Collected chemical entities, modern pharmacology, and clinical applications emanated from traditional Chinese medicine.

    PubMed

    Jia, Lee; Zhao, Yuqing; Liang, Xing-Jie

    2009-01-01

    This review, a sequel to part 1 in the series, collects about 107 chemical entities separated from the roots, leaves and flower buds of Panax ginseng, quinquefolius and notoginseng, and categorizes these entities into about 18 groups based on their structural similarity. The bioactivities of these chemical entities are described. The 'Yin and Yang' theory and the fundamentals of the 'five elements' applied to the traditional Chinese medicine (TCM) are concisely introduced to help readers understand how ginseng balances the dynamic equilibrium of human physiological processes from the TCM perspectives. This paper concerns the observation and experimental investigation of biological activities of ginseng used in the TCM of past and present cultures. The current biological findings of ginseng and its medical applications are narrated and critically discussed, including 1) its antihyperglycemic effect that may benefit type II diabetics; in vitro and in vivo studies demonstrated protection of ginseng on beta-cells and obese diabetic mouse models. The related clinical trial results are stated. 2) its aphrodisiac effect and cardiovascular effect that partially attribute to ginseng's bioactivity on nitric oxide (NO); 3) its cognitive effect and neuropharmacological effect that are intensively tested in various rat models using purified ginsenosides and show a hope to treat Parkinson's disease (PD); 4) its uses as an adjuvant or immunotherapeutic agent to enhance immune activity, appetite and life quality of cancer patients during their chemotherapy and radiation. Although the apoptotic effect of ginsenosides, especially Rh2, Rg3 and Compound K, on various tumor cells has been shown via different pathways, their clinical effectiveness remains to be tested. This paper also updates the antioxidant, anti-inflammatory, anti-apoptotic and immune-stimulatory activities of ginseng, its ingredients and commercial products, as well as common side effects of ginseng mainly due to its overdose, and its pharmacokinetics.

  17. ACUTE RETINAL ARTERIAL OCCLUSIVE DISORDERS

    PubMed Central

    Hayreh, Sohan Singh

    2011-01-01

    The initial section deals with basic sciences; among the various topics briefly discussed are the anatomical features of ophthalmic, central retinal and cilioretinal arteries which may play a role in acute retinal arterial ischemic disorders. Crucial information required in the management of central retinal artery occlusion (CRAO) is the length of time the retina can survive following that. An experimental study shows that CRAO for 97 minutes produces no detectable permanent retinal damage but there is a progressive ischemic damage thereafter, and by 4 hours the retina has suffered irreversible damage. In the clinical section, I discuss at length various controversies on acute retinal arterial ischemic disorders. Classification of acute retinal arterial ischemic disorders These are of 4 types: CRAO, branch retinal artery occlusion (BRAO), cotton wools spots and amaurosis fugax. Both CRAO and BRAO further comprise multiple clinical entities. Contrary to the universal belief, pathogenetically, clinically and for management, CRAO is not one clinical entity but 4 distinct clinical entities – non-arteritic CRAO, non-arteritic CRAO with cilioretinal artery sparing, arteritic CRAO associated with giant cell arteritis (GCA) and transient non-arteritic CRAO. Similarly, BRAO comprises permanent BRAO, transient BRAO and cilioretinal artery occlusion (CLRAO), and the latter further consists of 3 distinct clinical entities - non-arteritic CLRAO alone, non-arteritic CLRAO associated with central retinal vein occlusion and arteritic CLRAO associated with GCA. Understanding these classifications is essential to comprehend fully various aspects of these disorders. Central retinal artery occlusion The pathogeneses, clinical features and management of the various types of CRAO are discussed in detail. Contrary to the prevalent belief, spontaneous improvement in both visual acuity and visual fields does occur, mainly during the first 7 days. The incidence of spontaneous visual acuity improvement during the first 7 days differs significantly (p<0.001) among the 4 types of CRAO; among them, in eyes with initial visual acuity of counting finger or worse, visual acuity improved, remained stable or deteriorated in nonarteritic CRAO in 22%, 66% and 12% respectively; in nonarteritic CRAO with cilioretinal artery sparing in 67%, 33% and none respectively; and in transient nonarteritic CRAO in 82%, 18% and none respectively. Arteritic CRAO shows no change. Recent studies have shown that administration of local intra-arterial thrombolytic agent not only has no beneficial effect but also can be harmful. Prevalent multiple misconceptions on CRAO are discussed. Branch retinal artery occlusion Pathogeneses, clinical features and management of various types of BRAO are discussed at length. The natural history of visual acuity outcome shows a final visual acuity of 20/40 or better in 89% of permanent BRAO cases, 100% of transient BRAO and 100% of nonarteritic CLRAO alone. Cotton wools spots These are common, non-specific acute focal retinal ischemic lesions, seen in many retinopathies. Their pathogenesis and clinical features are discussed in detail. Amaurosis fugax Its pathogenesis, clinical features and management are described. PMID:21620994

  18. Splenic Infarction: An Under-recognized Complication of Infectious Mononucleosis?

    PubMed Central

    Li, Yan; George, Ann; Arnaout, Sami; Wang, Jennifer P; Abraham, George M

    2018-01-01

    Abstract Splenic infarction is a rare complication of infectious mononucleosis. We describe 3 cases of splenic infarction attributed to infectious mononucleosis that we encountered within a 2-month period. We underscore the awareness of this potential complication of infectious mononucleosis and discuss the differential diagnosis of splenic infarction, including infectious etiologies. While symptomatic management is usually sufficient for infectious mononucleosis-associated splenic infarction, close monitoring for other complications, including splenic rupture, is mandated. PMID:29577060

  19. Balancing exploration and exploitation in transferring research into practice: a comparison of five knowledge translation entity archetypes

    PubMed Central

    2013-01-01

    Background Translating knowledge from research into clinical practice has emerged as a practice of increasing importance. This has led to the creation of new organizational entities designed to bridge knowledge between research and practice. Within the UK, the Collaborations for Leadership in Applied Health Research and Care (CLAHRC) have been introduced to ensure that emphasis is placed in ensuring research is more effectively translated and implemented in clinical practice. Knowledge translation (KT) can be accomplished in various ways and is affected by the structures, activities, and coordination practices of organizations. We draw on concepts in the innovation literature—namely exploration, exploitation, and ambidexterity—to examine these structures and activities as well as the ensuing tensions between research and implementation. Methods Using a qualitative research approach, the study was based on 106 semi-structured, in-depth interviews with the directors, theme leads and managers, key professionals involved in research and implementation in nine CLAHRCs. Data was also collected from intensive focus group workshops. Results In this article we develop five archetypes for organizing KT. The results show how the various CLAHRC entities work through partnerships to create explorative research and deliver exploitative implementation. The different archetypes highlight a range of structures that can achieve ambidextrous balance as they organize activity and coordinate practice on a continuum of exploration and exploitation. Conclusion This work suggests that KT entities aim to reach their goals through a balance between exploration and exploitation in the support of generating new research and ensuring knowledge implementation. We highlight different organizational archetypes that support various ways to maintain ambidexterity, where both exploration and exploitation are supported in an attempt to narrow the knowledge gaps. The KT entity archetypes offer insights on strategies in structuring collaboration to facilitate an effective balance of exploration and exploitation learning in the KT process. PMID:24007259

  20. Balancing exploration and exploitation in transferring research into practice: a comparison of five knowledge translation entity archetypes.

    PubMed

    Oborn, Eivor; Barrett, Michael; Prince, Karl; Racko, Girts

    2013-09-05

    Translating knowledge from research into clinical practice has emerged as a practice of increasing importance. This has led to the creation of new organizational entities designed to bridge knowledge between research and practice. Within the UK, the Collaborations for Leadership in Applied Health Research and Care (CLAHRC) have been introduced to ensure that emphasis is placed in ensuring research is more effectively translated and implemented in clinical practice. Knowledge translation (KT) can be accomplished in various ways and is affected by the structures, activities, and coordination practices of organizations. We draw on concepts in the innovation literature--namely exploration, exploitation, and ambidexterity--to examine these structures and activities as well as the ensuing tensions between research and implementation. Using a qualitative research approach, the study was based on 106 semi-structured, in-depth interviews with the directors, theme leads and managers, key professionals involved in research and implementation in nine CLAHRCs. Data was also collected from intensive focus group workshops. In this article we develop five archetypes for organizing KT. The results show how the various CLAHRC entities work through partnerships to create explorative research and deliver exploitative implementation. The different archetypes highlight a range of structures that can achieve ambidextrous balance as they organize activity and coordinate practice on a continuum of exploration and exploitation. This work suggests that KT entities aim to reach their goals through a balance between exploration and exploitation in the support of generating new research and ensuring knowledge implementation. We highlight different organizational archetypes that support various ways to maintain ambidexterity, where both exploration and exploitation are supported in an attempt to narrow the knowledge gaps. The KT entity archetypes offer insights on strategies in structuring collaboration to facilitate an effective balance of exploration and exploitation learning in the KT process.

  1. Global occurrence of infant botulism, 1976-2006.

    PubMed

    Koepke, Ruth; Sobel, Jeremy; Arnon, Stephen S

    2008-07-01

    To summarize the worldwide occurrence of reported infant (intestinal toxemia) botulism cases since first recognition of the disease in 1976. We collected information on infant botulism cases by active and passive surveillance, by provision of therapeutic Human Botulism Immune Globulin to suspected cases, and by searching the medical literature. We defined a case as laboratory-confirmed botulism that occurred in an infant

  2. Overgrowth syndromes with vascular anomalies.

    PubMed

    Blei, Francine

    2015-04-01

    Overgrowth syndromes with vascular anomalies encompass entities with a vascular anomaly as the predominant feature vs those syndromes with predominant somatic overgrowth and a vascular anomaly as a more minor component. The focus of this article is to categorize these syndromes phenotypically, including updated clinical criteria, radiologic features, evaluation, management issues, pathophysiology, and genetic information. A literature review was conducted in PubMed using key words "overgrowth syndromes and vascular anomalies" as well as specific literature reviews for each entity and supportive genetic information (e.g., somatic mosaicism). Additional searches in OMIM and Gene Reviews were conducted for each syndrome. Disease entities were categorized by predominant clinical features, known genetic information, and putative affected signaling pathway. Overgrowth syndromes with vascular anomalies are a heterogeneous group of disorders, often with variable clinical expression, due to germline or somatic mutations. Overgrowth can be focal (e.g., macrocephaly) or generalized, often asymmetrically (and/or mosaically) distributed. All germ layers may be affected, and the abnormalities may be progressive. Patients with overgrowth syndromes may be at an increased risk for malignancies. Practitioners should be attentive to patients having syndromes with overgrowth and vascular defects. These patients require proactive evaluation, referral to appropriate specialists, and in some cases, early monitoring for potential malignancies. Progress in identifying vascular anomaly-related overgrowth syndromes and their genetic etiology has been robust in the past decade and is contributing to genetically based prenatal diagnosis and new therapies targeting the putative causative genetic mutations. Copyright © 2015 Mosby, Inc. All rights reserved.

  3. What is misophonia and how can we treat it?

    PubMed

    Cavanna, Andrea E

    2014-04-01

    Selective sound sensitivity syndrome or misophonia is a chronic condition characterized by unpleasant emotional experiences and autonomic arousal in response to specific sounds. Over the last few years there have been a few reports detailing the clinical features associated with this condition. These focused reports raise interesting questions about the nosological status of this potentially disabling clinical entity.

  4. Melanotic MiT family translocation neoplasms: Expanding the clinical and molecular spectrum of this unique entity of tumors.

    PubMed

    Saleeb, Rola M; Srigley, John R; Sweet, Joan; Doucet, Cedric; Royal, Virginie; Chen, Ying-Bei; Brimo, Fadi; Evans, Andrew

    2017-11-01

    MiT family translocation tumors are a group of neoplasms characterized by translocations involving MiT family transcription factors. The translocation renal cell carcinomas, TFE3 (Xp11.2) and TFEB (t6;11) are known members of this family. Melanotic Xp11 translocation renal cancer is a more recently described entity. To date only 14 cases have been described. It is characterized by a distinct set of features including a nested epithelioid morphology, melanin pigmentation, labeling for markers of melanocytic differentiation, lack of labeling for markers of renal tubular differentiation, predominance in a younger age population and association with aggressive clinical behavior. There are noted similarities between that entity and TFE3 associated PEComas. There are no cases reported of equivalent melanotic TFEB translocation renal cancer. We report 2 rare cases of melanotic translocation renal neoplasms. The first is a melanotic TFE3 translocation renal cancer with an indolent clinical course, occurring in a patient more than 3-decades older than the usual average age in which such tumors have been described. The other case is, to our knowledge, the first reported melanotic TFEB translocation cancer of the kidney. Both cases exhibit the same H&E morphology as previously reported in melanotic translocation renal cancers and label accordingly with HMB45 and Melan-A. While the TFE3 melanotic tumor lacked any evidence of renal tubular differentiation, the TFEB melanotic cancer exhibited some staining for renal tubular markers. Based on the unique features noted above, these two cases expand the clinical and molecular spectrum of the melanotic translocation renal cancers. Copyright © 2017 Elsevier GmbH. All rights reserved.

  5. Breast lesions of uncertain malignant nature and limited metastatic potential: Proposals to improve their recognition and clinical management

    PubMed Central

    Rakha, Emad A.; Badve, Sunil; Eusebi, Vincenzo; Reis-Filho, Jorge S.; Fox, Stephen B.; Dabbs, David J.; Decker, Thomas; Hodi, Zsolt; Ichihara, Shu; Lee, Andrew HS.; Palacios, José; Richardson, Andrea L.; Vincent-Salomon, Anne; Schmitt, Fernando C.; Tan, Puay-Hoon; Tse, Gary M.; Ellis, Ian O.

    2016-01-01

    Breast lesions comprise a family of heterogeneous entities with variable patterns of presentation, morphology and clinical behaviour. The majority of breast lesions are traditionally classified into benign and malignant conditions and their behaviour can, in the vast majority of cases, be predicted with a reasonable degree of accuracy. However, there remain lesions which show borderline features and lie in a grey-zone between benign and malignant as their behaviour cannot be predicted reliably. Defined pathological categorisation of such lesions is challenging and for some entities is recognised to be subjective and include a range of diagnoses, and forms of terminology, which may trigger over-treatment or under-treatment. The rarity of these lesions makes acquisition of clinical evidence problematic and limits the development of a sufficient evidence base to support informed decision making by clinicians and patients. Emerging molecular evidence is providing a greater understanding of the biology of these lesions, but this may or may not be reflected in their clinical behaviour. Herein we discuss some breast lesions that are associated with uncertainty regarding classification, behaviour and hence management. These include biologically invasive malignant lesions associated with uncertain metastatic potential such as low-grade adenosquamous carcinoma, low-grade fibromatosis-like spindle cell carcinoma and encapsulated papillary carcinoma. Other lesions remain of uncertain malignant nature such as mammary cylindroma, atypical microglandular adenosis, mammary pleomorphic adenoma and infiltrating epitheliosis. The concept of categories of 1) breast lesions of uncertain malignant nature and 2) breast lesions of limited metastatic potential, are proposed with details of which histological entities could be included in each category, and their management implications are discussed. PMID:26348644

  6. A review of sub acute subdural hematoma (SASDH) with our institutional experience and its management by double barrel technique (DbT): A novel technique.

    PubMed

    Tripathy, Soubhagya R; Swarnakar, Pankaj K; Mishra, Sanjib; Mishra, Sudhanshu S; Dhir, Manmath K; Behera, Sanjay K; Nath, Pratap C; Jena, Somnath P; Mohanta, Itibrata; Das, Deepak; Satapathy, Mani C; Rout, Sitansu K; Behera, Bikash R; Parida, Deepak K; Rath, Tanushree S

    2016-01-01

    Subacute subdural hematoma (SASDH) is an entity which is yet to capture the popular imagination among the neurosurgeons. Its management is often equated clinically to that of the chronic subdural hematoma (CSDH). However, their neurological deterioration is usually rapid, which seems to align them with acute subdural hematoma (ASDH). We proceed for their epidemiological evaluation. The advantages of a novel "double barrel technique (DbT)" over the conventional burrhole drainage are also presented. This retrospective study was conducted on all the patients having clinical and radiological evidence of SASDH, admitted to a tertiary care referral institute, during the period August 2013 to December 2015. Postoperatively, patients were followed-up for 3-24 months. 46.87% of the patients belonged to the 35-54 year age group with a male predominance (3.6:1); 68.7% had a history of alcohol abuse, whereas aspirin users were 25%. 87.5% cases were unilateral, 18.75% were hemispheric, and 46.87% were present on the left side. Altered consciousness (100%) followed by headache (37.5%) were the most common presenting clinical features. SASDH is an uncommon neurosurgical entity (0.89% of traumatic brain injury cases in our study) and mimics both CSDH as well as ASDH. The true incidence of SASDH may have been underestimated due to its clinical imitation with CSDH. This study in a South Asian nation also provides the epidemiological data of this rare neurosurgical entity. Outcome of surgery is good; our retrospective study confirms that "DbT" is an adequate and safe treatment. However, a better designed, randomized control trial will be needed to reinforce our findings.

  7. An ontologically founded architecture for information systems in clinical and epidemiological research.

    PubMed

    Uciteli, Alexandr; Groß, Silvia; Kireyev, Sergej; Herre, Heinrich

    2011-08-09

    This paper presents an ontologically founded basic architecture for information systems, which are intended to capture, represent, and maintain metadata for various domains of clinical and epidemiological research. Clinical trials exhibit an important basis for clinical research, and the accurate specification of metadata and their documentation and application in clinical and epidemiological study projects represents a significant expense in the project preparation and has a relevant impact on the value and quality of these studies.An ontological foundation of an information system provides a semantic framework for the precise specification of those entities which are presented in this system. This semantic framework should be grounded, according to our approach, on a suitable top-level ontology. Such an ontological foundation leads to a deeper understanding of the entities of the domain under consideration, and provides a common unifying semantic basis, which supports the integration of data and the interoperability between different information systems.The intended information systems will be applied to the field of clinical and epidemiological research and will provide, depending on the application context, a variety of functionalities. In the present paper, we focus on a basic architecture which might be common to all such information systems. The research, set forth in this paper, is included in a broader framework of clinical research and continues the work of the IMISE on these topics.

  8. Genetics Home Reference: L1 syndrome

    MedlinePlus

    ... X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases. Acta Neuropathol. 2013 Sep; ... F. Three cases with L1 syndrome and two novel mutations in the L1CAM gene. Eur J Pediatr. ...

  9. Isolation, Analysis and Antimicrobial Activity of the Acidic Fractions of Mastic, Kurdica, Mutica and Cabolica Gums from Genus Pistacia

    PubMed Central

    Sharifi, Mohammad Sharif; Hazell, Stuart Loyd

    2012-01-01

    The chemical entities of Mastic, Kurdica, Mutica and Cabolica gums from genus Pistacia have been isolated and characterised by GC-Mass Spectrometry, High Performance Liquid Chromatography and Column Chromatography. These chemical entities were screened for anti-microbial activities against nine strains of Helicobacter pylori and some other Gram-negative and Gram-positive bacteria. The most bioactive components were structurally analysed. These components mimic steroid compounds, in particular, the known antibiotic Fusidic acid. Some of these chemical entities have produced promising data that could lead to the development of a novel class of antimicrobial agents that may have application in the treatment of infectious disease. Kill kinetics have been also performed, and the produced data were evaluated by Generalized Multiplicative Analysis Of Variance (GEMANOVA) for the bactericidal and bacteriostatic activities which can be clinically significant. The isolated components were all bactericidal. PMID:22980113

  10. Cryptogenic stroke. A non-diagnosis.

    PubMed

    Gutiérrez-Zúñiga, Raquel; Fuentes, Blanca; Díez-Tejedor, Exuperio

    2018-04-30

    The term cryptogenic stroke refers to a stroke for which there is no specific attributable cause after a comprehensive evaluation. However, there are differences between the diagnostic criteria of etiological classifications used in clinical practice. An improvement in diagnostic tools such advances in monitoring for atrial fibrillation, advances in vascular imaging and evidence regarding the implication of patent foramen oval on the risk of stroke specially in young patients are reducing the proportion of stroke patients without etiological diagnosis. We carried out a critical review of the current concept of cryptogenic stroke, as a non-diagnosis, avoiding the simplification of it and reviewing the different entities that could fall under this diagnosis and reviewing the different entities that could fall under this diagnosis; and therefore avoid the same treatment for differents entities with uncertains results. Copyright © 2018 Elsevier España, S.L.U. All rights reserved.

  11. Primary disorders of the lymphatic vessels--a unified concept.

    PubMed

    Levine, C

    1989-03-01

    Congenital defects of lymphatics constitute a spectrum of disorders that may manifest with a variety of clinical presentations including lymphedema, chylous effusions, lymphangiomatous malformations with cystic masses and localized gigantism, and intestinal lymphangiectasia with malabsorption. These entities constitute a relatively rare group of disorders, the origin of which remains somewhat controversial, but in some it appears to be due to early lymphatic obstruction. Five cases are described, which demonstrate the anatomical pathology of these entities. A classification and description of the defects is also presented. An attempt is made to present a unified theory of origin for this seemingly diverse group of diseases. While these entities may be challenging from a diagnostic and therapeutic standpoint, a wide variety of imaging modalities, which includes lymphography, computed tomography scanning, and ultrasound, may be used to diagnose the extent and internal structural characteristics of the abnormalities.

  12. Moore-Federman syndrome and acromicric dysplasia: are they the same entity?

    PubMed Central

    Winter, R M; Patton, M A; Challener, J; Mueller, R F; Baraitser, M

    1989-01-01

    Four unrelated patients are reported with short stature, stiffness of the joints, short fingers, inability to make a fist, and thickened skin on the forearms. Investigations have failed to show a lysosomal storage disorder and radiographs show non-specific changes with a delayed carpal bone age. The clinical features in the four children are very similar to the recently described acromicric dysplasia. There are also similarities to Moore-Federman syndrome which has only been described in one family. The case is made that acromicric dysplasia and Moore-Federman syndrome are the same entity. Images PMID:2732993

  13. Politics and Graduate Medical Education in Internal Medicine: A Dynamic Landscape.

    PubMed

    Wardrop, Richard M; Berkowitz, Lee R

    2017-02-01

    The promotion of change and growth within medical education is oftentimes the result of a complex mix of societal, cultural and economic forces. Graduate medical education in internal medicine is not immune to these forces. Several entities and organizations can be identified as having a major influence on internal medicine training and graduate medical education as a whole. We have reviewed how this is effectively accomplished through these entities and organizations. The result is a constantly changing and dynamic landscape for internal medicine training. Copyright © 2017 Southern Society for Clinical Investigation. Published by Elsevier Inc. All rights reserved.

  14. Breast cancer - one term, many entities?

    PubMed

    Bertos, Nicholas R; Park, Morag

    2011-10-01

    Breast cancer, rather than constituting a monolithic entity, comprises heterogeneous tumors with different clinical characteristics, disease courses, and responses to specific treatments. Tumor-intrinsic features, including classical histological and immunopathological classifications as well as more recently described molecular subtypes, separate breast tumors into multiple groups. Tumor-extrinsic features, including microenvironmental configuration, also have prognostic significance and further expand the list of tumor-defining variables. A better understanding of the features underlying heterogeneity, as well as of the mechanisms and consequences of their interactions, is essential to improve targeting of existing therapies and to develop novel agents addressing specific combinations of features.

  15. Product-related research: how research can contribute to successful life-cycle management.

    PubMed

    Sandner, Peter; Ziegelbauer, Karl

    2008-05-01

    Declining productivity with decreasing new molecular entity output combined with increased R&D spending is one of the key challenges for the entire pharmaceutical industry. In order to offset decreasing new molecular entity output, life-cycle management activities for established drugs become more and more important to maintain or even expand clinical indication and market opportunities. Life-cycle management covers a whole range of activities from strategic pricing to a next generation product launch. In this communication, we review how research organizations can contribute to successful life-cycle management strategies using phosphodiesterase 5 inhibitors as an example.

  16. Surfer's myelopathy: case report and review.

    PubMed

    Karabegovic, Amna; Strachan-Jackman, Shirley; Carr, David

    2011-09-01

    Nontraumatic spinal cord injury from surfing is a new entity first described in 2004 and likely of ischemic etiology. We report the case of a 25-year-old man who presented to the emergency department with a 2-week history of lower extremity weakness after surfing in Indonesia. The patient reported developing low back pain, lower extremity weakness, sensory changes, and urinary retention shortly after his first surfing lesson. The patient was subsequently diagnosed with surfer's myelopathy. The purpose of this report is to review the clinical presentation, etiology, risk factors, and management of this increasingly described entity.

  17. Inflammatory myoglandular polyp--a rare but distinct type of colorectal polyps.

    PubMed

    Becheanu, Gabriel; Stamm, Bernhard

    2003-01-01

    The aim of this paper was to report another example of a rare type of colorectal polyps, the inflammatory myoglandular polyp, and to reaffirm this type of polyp as a distinct entity. This solitary pedunculated polyp was detected after a single episode of rectal bleeding. It was situated in the sigmoid colon, measured 2.5 cm in greatest diameter, and was composed almost exclusively of smooth muscles and hyperplastic glands. The patient had neither chronic colitis nor diverticula. Clinical presentation, localization, and histology give this type of polyp a unique appearance and justify its designation as a separate entity.

  18. A new autosomal dominant syndrome of distinctive face showing ptosis and prominent eyes associated with cleft palate, ear anomalies, and learning disability.

    PubMed

    Tyshchenko, N; Neuhann, T M; Gerlach, E; Hahn, G; Heisch, K; Rump, A; Schrock, E; Tinschert, S; Hackmann, K

    2011-09-01

    We report on three patients from two families with apparently a novel clinical entity. The main features of which include unusual craniofacial dysmorphism with ptosis, prominent eyes, flat midface, Cupid's bow configuration of the upper lip, low-set, posteriorly rotated small ears, as well as conductive hearing loss, cleft palate, heart defect, and mild developmental delay. We suggest that this entity is an autosomal dominant disorder given the occurrence in a mother and daughter as well as in an unrelated boy. Copyright © 2011 Wiley-Liss, Inc.

  19. The Mobile Team of Parasitology-Mycology, a medical entity for educational purposes to serve sick patients.

    PubMed

    Desoubeaux, G; Simon, E G; Perrotin, D; Chandenier, J

    2014-06-01

    The Mobile Team of Parasitology-Mycology is a movable entity of the Parasitology-Mycology laboratory of Tours University Hospital, France. In contrast to the usual prerogatives of biomedical laboratories, the Mobile Team of Parasitology-Mycology is requested to intervene directly at bedside in various clinical departments, or even outside the hospital facility. Although its actions are of course primarily devoted to specialized diagnostic and therapeutic purposes, the Mobile Team also plays an important educational role in the medical training of undergraduate or graduate students. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

  20. Prevalence and Associated Factors of Suicidal Ideation and Attempt among People Living with HIV/AIDS at Zewditu Memorial Hospital, Addis Ababa, Ethiopia: A Cross-Sectional Study

    PubMed Central

    Gebremariam, Etsay Hailu; Nasir, Zebiba

    2017-01-01

    Background. Human Immune Deficiency Virus (HIV/AIDS) continues to be an underrecognized risk for suicidal ideation, suicidal attempt, and completion of suicide. Suicidal ideation and attempt in HIV/AIDS is not only a predictor of future attempted suicide and completed suicide. Methods. An institution based cross-sectional study was conducted among HIV-positive patients attending HIV care at Zewditu Memorial Hospital. Systematic random sampling technique was used to recruit 423 participants from April to May 2014. Composite International Diagnostic Interview was used to collect data. Multivariable logistic regression was computed to assess factors associated with suicidal ideation and attempt. Result. Suicidal ideation and suicidal attempt were found to be 22.5% and 13.9%, respectively. WHO clinical stage of HIV, not being on HAART, depression, family history of suicidal attempt, and perceived stigma were associated with suicidal ideation. WHO clinical stage, being female, not being on HAART, use of substance, and depression were associated with suicidal attempt. Conclusion. Early diagnosis and treatment of opportunistic infections, depression, and early initiation of ART need to be encouraged in HIV-positive adults. Furthermore, counseling on substance use and its consequences and early identification of HIV-positive people with family history of suicidal ideation have to be considered. PMID:28491869

  1. Intrasellar cysticercosis: a systematic review.

    PubMed

    Del Brutto, Oscar H; Del Brutto, Victor J

    2013-09-01

    The objective of this study was to review patients with intrasellar cysticercosis to outline the features of this form of neurocysticercosis. A MEDLINE and manual search of patients with intrasellar cysticercosis were done. Abstracted data included clinical manifestations, neuroimaging findings, therapy, and outcome. Twenty-three patients were reviewed. Ophthalmological disturbances, including diminution of visual acuity and visual field defects following a chiasmatic pattern, were recorded in 67 % of cases. Endocrine abnormalities were found in 56 % of patients (panhypopituitarism, hyperprolactinemia, diabetes insipidus, and isolated hypothyroidism). In addition, some patients complained of seizures or chronic headaches. Neuroimaging studies showed lesions confined to the sellar region in 47 % of cases. The remaining patients also had subarachnoid cysts associated or not with hydrocephalus, parenchymal brain cysts, or parenchymal brain calcifications. Thirteen patients underwent surgical resection of the sellar cyst through a craniotomy in nine cases and by the transsphenoidal approach in four. Visual acuity or visual field defects improved in only two of these patients. Five patients were treated with cysticidal drugs without improvement. Intrasellar cysticercosis is rare and probably under-recognized. Clinical manifestations resemble those caused by pituitary tumors, cysts, or other granulomatous lesions. Neuroimaging findings are of more value when intrasellar cysts are associated with other forms of neurocysticercosis, such as basal subarachnoid cysts or hydrocephalus. Prompt surgical resection is mandatory to reduce the risk of permanent loss of visual function. There seems to be no role for cysticidal drug therapy in these cases.

  2. Functional anorectal disorders.

    PubMed

    Bharucha, Adil E; Wald, Arnold; Enck, Paul; Rao, Satish

    2006-04-01

    This report defines criteria for diagnosing functional anorectal disorders (ie, fecal incontinence, anorectal pain, and disorders of defecation). Functional fecal incontinence is defined as the uncontrolled passage of fecal material recurring for > or =3 months in an individual with a developmental age of > or =4 years that is associated with: (1) abnormal functioning of normally innervated and structurally intact muscles, and/or (2) no or minor abnormalities of sphincter structure and/or innervation insufficient to explain fecal incontinence, and/or (3) normal or disordered bowel habits (ie, fecal retention or diarrhea), and/or (4) psychological causes. However, conditions wherein structural and/or neurogenic abnormalities explain the symptom, or are part of a generalized process (eg, diabetic neuropathy) are not included within functional fecal incontinence. Functional fecal incontinence is a common, but underrecognized symptom, which is equally prevalent in men and women, and can often cause considerable distress. The clinical features are useful for guiding diagnostic testing and therapy. Functional anorectal pain syndromes include proctalgia fugax (fleeting pain) and chronic proctalgia; chronic proctalgia may be subdivided into levator ani syndrome and unspecified anorectal pain, which are defined by arbitrary clinical criteria. Functional defecation disorders are characterized by 2 or more symptoms of constipation, with > or =2 of the following features during defecation: impaired evacuation, inappropriate contraction of the pelvic floor muscles, and inadequate propulsive forces. Functional disorders of defecation may be amenable to pelvic floor retraining by biofeedback therapy (such as dyssynergic defecation).

  3. Diagnostic Accuracy of Tests for Polyuria in Lithium-Treated Patients.

    PubMed

    Kinahan, James Conor; NiChorcorain, Aoife; Cunningham, Sean; Freyne, Aideen; Cooney, Colm; Barry, Siobhan; Kelly, Brendan D

    2015-08-01

    In lithium-treated patients, polyuria increases the risk of dehydration and lithium toxicity. If detected early, it is reversible. Despite its prevalence and associated morbidity in clinical practice, it remains underrecognized and therefore undertreated. The 24-hour urine collection is limited by its convenience and practicality. This study explores the diagnostic accuracy of alternative tests such as questionnaires on subjective polyuria, polydipsia, nocturia (dichotomous and ordinal responses), early morning urine sample osmolality (EMUO), and fluid intake record (FIR). This is a cross-sectional study of 179 lithium-treated patients attending a general adult and an old age psychiatry service. Participants completed the tests after completing an accurate 24-hour urine collection. The diagnostic accuracy of the individual tests was explored using the appropriate statistical techniques. Seventy-nine participants completed all of the tests. Polydipsia severity, EMUO, and FIR significantly differentiated the participants with polyuria (area under the receiver operating characteristic curve of 0.646, 0.760, and 0.846, respectively). Of the tests investigated, the FIR made the largest significant change in the probability that a patient experiences polyuria (<2000 mL/24 hours; interval likelihood ratio, 0.18 and >3500 mL/24 hours; interval likelihood ratio, 14). Symptomatic questioning, EMUO, and an FIR could be used in clinical practice to inform the prescriber of the probability that a lithium-treated patient is experiencing polyuria.

  4. The Role of Docosahexaenoic Acid (DHA) in the Control of Obesity and Metabolic Derangements in Breast Cancer.

    PubMed

    Molfino, Alessio; Amabile, Maria Ida; Monti, Massimo; Arcieri, Stefano; Rossi Fanelli, Filippo; Muscaritoli, Maurizio

    2016-04-05

    Obesity represents a major under-recognized preventable risk factor for cancer development and recurrence, including breast cancer (BC). Healthy diet and correct lifestyle play crucial role for the treatment of obesity and for the prevention of BC. Obesity is significantly prevalent in western countries and it contributes to almost 50% of BC in older women. Mechanisms underlying obesity, such as inflammation and insulin resistance, are also involved in BC development. Fatty acids are among the most extensively studied dietary factors, whose changes appear to be closely related with BC risk. Alterations of specific ω-3 polyunsaturated fatty acids (PUFAs), particularly low basal docosahexaenoic acid (DHA) levels, appear to be important in increasing cancer risk and its relapse, influencing its progression and prognosis and affecting the response to treatments. On the other hand, DHA supplementation increases the response to anticancer therapies and reduces the undesired side effects of anticancer therapies. Experimental and clinical evidence shows that higher fish consumption or intake of DHA reduces BC cell growth and its relapse risk. Controversy exists on the potential anticancer effects of marine ω-3 PUFAs and especially DHA, and larger clinical trials appear mandatory to clarify these aspects. The present review article is aimed at exploring the capacity of DHA in controlling obesity-related inflammation and in reducing insulin resistance in BC development, progression, and response to therapies.

  5. A Relational Ethics Framework for Advancing Practice with Children with Complex Health Care Needs and Their Parents.

    PubMed

    Carnevale, Franco A; Teachman, Gail; Bogossian, Aline

    2017-12-01

    Children with complex health care needs are an emerging population that commonly requires long-term supportive services. A growing body of evidence has highlighted that these children and their families experience significant challenges. Many of these challenges involve ethical concerns that have been under-recognized. In this article, we (a) outline ethical concerns that arise in clinical practice with children with complex health care needs and their families (e.g.: exclusion of children's voices in discussions and decisions that affect them; difficulties in defining their best interests; clashes across the array of social roles that parents manage; limited recognition of the ethical significance of parents' and other family members' interests) and (b) propose a relational ethics framework for addressing these concerns. Our framework draws on hermeneutical interpretation and moral experience as foundational orientations, recognizing children with complex health care needs as relationally embedded agents, who while dependent and entitled to protection, are simultaneously agential. Children's and parents' interests are relationally intertwined and interdependent. Families are recognized as significant social microcosms for the cultivation and transmission of intergenerational cultural heritage, narratives, and outlooks. We describe strategies for (a) conducting a relational ethics inquiry and (b) reconciliation of identified ethical concerns through a process of rapprochement. A relational ethics framework can promote clinical practices that are ethically attuned to the complexity of this population's needs.

  6. Burnout: Recognize and Reverse.

    PubMed

    Anne, Samantha

    2014-07-01

    Physician burnout may be underrecognized and can cause significant detrimental effects on personal health and job satisfaction. Burnout has been associated with medical errors, alcohol and drug abuse, and neglect and abandonment of career goals. With self-awareness, development of coping mechanisms, and the adoption of a strong social and professional support network, burnout can be combated. This article focuses on recognizing characteristics of burnout and providing strategies to cope to avoid reaching a high degree of burnout. © American Academy of Otolaryngology—Head and Neck Surgery Foundation 2014.

  7. Comprehensive Quality of Life (QoL) in Neurofibromatosis Type II (NF2): Development, Refinement and Standardization of a Multi-Dimensional Metric

    DTIC Science & Technology

    2012-12-01

    or any other aspect of this collection of information, including suggestions for reducing this burden to Department of Defense, Washington...University. 9 Additionally, incorporation of NF2 specific QoL metrics is progressing in all aspects of NF care at NYU. The baseline QoL data will...utilization of mental health providers to provide both counseling, and when necessary, treatment of this currently under-recognized aspect of NF2

  8. Sexual pain.

    PubMed

    Boardman, Lori A; Stockdale, Colleen K

    2009-12-01

    Sexual pain is an underrecognized and poorly treated constellation of disorders that significantly impact affected women and their partners. Recognized as a form of chronic pain, sexual pain disorders are heterogeneous and include dyspareunia (superficial and deep), vaginismus, vulvodynia, vestibulitis, and noncoital sexual pain disorder. Women too often tolerate pain in the belief that this will meet their partners' needs. This article provides a review of the terminology and definition of the condition, theories on the pathophysiology, diagnostic considerations, and recommendations on the management of female sexual pain.

  9. Psychometric properties and relations with coping and family strain of the Health Services and Caregiver Experience questionnaire (HSCE): an outcome measure of informal caregivers' experience for inpatient care in Italy.

    PubMed

    Coluccia, Anna; Ferretti, Fabio; Fagiolini, Andrea; Pozza, Andrea

    2017-07-17

    In the last decade, the number of patients supported by informal caregivers has substantially increased. In the Italian healthcare context, informal caregivers' experience of care is a new under-recognized construct, and no assessment tool is available. Measuring caregivers' experience is important since in Italy the relationship between doctors and patients/relatives is still considered asymmetrical. The current study presented development and initial psychometric properties of the Health Services and Caregiver Experience questionnaire (HSCE), a self-report tool of caregivers' global experience for inpatient clinical care, including factor structure, reliability and its relations with measures of coping strategies and family strain. The HSCE was administered to a total of 503 informal caregivers of inpatients admitted at an Italian University Hospital (mean age = 48.08 years, SD = 14.82, females = 61.40%). Family Strain Questionnaire-Short Form (FSQ-SF) and Coping Orientations to Problems Experience-New Italian Version (COPE-NVI) were administered to a subgroup of participants. First-grade relatives were 73.10%, whereas 13.20% were second-grade relatives and 13.70% were home-watch caregivers. Exploratory and confirmatory factor analyses showed a structure with a single factor, which explained 64.80% of the total variance. All the items had salient loadings. In the two subsamples, HSCE had excellent internal consistency (Cronbach's alpha = 0.95-0.97). Positive moderate correlations were found between HSCE and FSQ-SF scores (r = 0.45, p < .05), between HSCE and COPE-NVI scale scores, including COPE-NVI positive attitude and COPE-NVI problem solving scores (rs' range = 0.51-0.57, p < .05). Moreover, a positive large correlation between HSCE and COPE-NVI social support scores emerged (r = 0.72, p < .05). Correlations were not significant between HSCE scores and COPE-NVI turning to religion and avoidance strategies. The HSCE resulted to have good psychometric properties. Better caregivers' experience correlated with stronger family strain but also with better problem solving and social support. The study expanded knowledge on caregiver's experience in Italy and indicated that HSCE is a valid and reliable tool to measure this under-recognized construct in Italy.

  10. A clinical analysis of two indolent lymphoma entities: mantle cell lymphoma and marginal zone lymphoma (including the mucosa-associated lymphoid tissue and monocytoid B-cell subcategories): a Southwest Oncology Group study.

    PubMed

    Fisher, R I; Dahlberg, S; Nathwani, B N; Banks, P M; Miller, T P; Grogan, T M

    1995-02-15

    The objectives of this study were (1) to determine the clinical presentation and natural history associated with two newly recognized pathologic entities termed mantle cell lymphoma (MCL) and marginal zone lymphoma (MZL), including the mucosa-associated lymphoid tissue (MALT) and monocytoid B-cell subcategories, and (2) to determine whether these entities differ clinically from the other relatively indolent non-Hodgkin's lymphomas with which they have been previously classified. We reviewed the conventional pathology and clinical course of 376 patients who had no prior therapy; had stage III/IV disease; were classified as Working Formulation categories A, B, C, D, or E; and received cyclophosphamide, doxorubicin, vincristine, prednisone (CHOP) on Southwest Oncology Group (SWOG) studies no. 7204, 7426, or 7713. All slides were reviewed by the three pathologists who reached a consensus diagnosis. Age, sex, performance status, bone marrow and/or gastrointestinal involvement, failure-free survival, and overall survival were compared among all the categories. We found that (1) MCL and MZL each represent approximately 10% of stage III or IV patients previously classified as Working Formulation categories A through E and treated with CHOP on SWOG clinical trials; (2) the failure-free survival and overall survival of patients with MZL is the same as that of patients with Working Formulation categories A through E, but the failure-free survival and overall survival of the monocytoid B-cell patients were higher than that of the MALT lymphoma patients (P = .009 and .007, respectively); and (3) the failure-free survival and overall survival of patients with MCL is significantly worse than that of patients with Working Formulation categories A through E (P = .0002 and .0001, respectively). In conclusion, patients with advanced stage MALT lymphomas may have a more aggressive course than previously recognized. Patients with MCL do not have an indolent lymphoma and are candidates for innovative therapy.

  11. Clinical features and course of refractory anemia with ring sideroblasts associated with marked thrombocytosis

    PubMed Central

    Broseus, Julien; Florensa, Lourdes; Zipperer, Esther; Schnittger, Susanne; Malcovati, Luca; Richebourg, Steven; Lippert, Eric; Cermak, Jaroslav; Evans, Jyoti; Mounier, Morgane; Raya, José Maria; Bailly, François; Gattermann, Norbert; Haferlach, Torsten; Garand, Richard; Allou, Kaoutar; Besses, Carlos; Germing, Ulrich; Haferlach, Claudia; Travaglino, Erica; Luno, Elisa; Pinan, Maria Angeles; Arenillas, Leonor; Rozman, Maria; Perez Sirvent, Maria Luz; Favre, Bernardine; Guy, Julien; Alonso, Esther; Ahwij, Nuhri; Jerez, Andrés; Hermouet, Sylvie; Maynadié, Marc; Cazzola, Mario; Girodon, François

    2012-01-01

    Background Refractory anemia with ring sideroblasts associated with marked thrombocytosis was proposed as a provisional entity in the 2001 World Health Organization classification of myeloid neoplasms and also in the 2008 version, but its existence as a single entity is contested. We wish to define the clinical features of this rare myelodysplastic/myeloproliferative neoplasm and to compare its clinical outcome with that of refractory anemia with ring sideroblasts and essential thrombocythemia. Design and Methods We conducted a collaborative retrospective study across Europe. Our database included 200 patients diagnosed with refractory anemia with ring sideroblasts and marked thrombocytosis. For each of these patients, each patient diagnosed with refractory anemia with ring sideroblasts was matched for age and sex. At the same time, a cohort of 454 patients with essential thrombocythemia was used to compare outcomes of the two diseases. Results In patients with refractory anemia with ring sideroblasts and marked thrombocytosis, depending on the Janus Kinase 2 V617F mutational status (positive or negative) or platelet threshold (over or below 600×109/L), no difference in survival was noted. However, these patients had shorter overall survival and leukemia-free survival with a lower risk of thrombotic complications than did patients with essential thrombocythemia (P<0.001) but better survival (P<0.001) and a higher risk of thrombosis (P=0.039) than patients with refractory anemia with ring sideroblasts. Conclusions The clinical course of refractory anemia with ring sideroblasts and marked thrombocytosis is better than that of refractory anemia with ring sideroblasts and worse than that of essential thrombocythemia. The higher risk of thrombotic events in this disorder suggests that anti-platelet therapy might be considered in this subset of patients. From a clinical point of view, it appears to be important to consider refractory anemia with ring sideroblasts and marked thrombocytosis as a distinct entity. PMID:22532522

  12. Tuberculous pseudotumor of the liver

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Dhekne, R.D.; Moore, W.H.; Long, S.E.

    1987-10-01

    Tuberculosis of the liver in association with generalized miliary tuberculosis is not an uncommon clinical entity. A solitary tuberculous liver abscess, however, is rare. Two such cases, in which there was no clinical evidence of extrahepatic tuberculosis, are reported. The similarities between this condition and other causes of hepatic lesions are discussed, with particular emphasis placed on the imaging patterns of various diagnostic imaging procedures.

  13. Granulomatous lobular mastitis.

    PubMed

    Miliauskas, J R; Pieterse, A S; Williams, R S

    1995-02-01

    Two cases of benign lobular granulomatous mastitis, both clinically felt to be carcinoma, are reported. One patient was cured by local excision of the mass while the other was cured by oral prednisolone, demonstrating the variable ways to treat this entity. The clinical and histological features were similar to those noted in previous reports. Immunological studies revealed predominantly stromal T lymphocytes and only duct intra-epithelial T lymphocytes.

  14. Age-related monoclonal gammapathies: clinical lessons from the aging C57BL mouse.

    PubMed

    Radl, J

    1990-07-01

    In this article the long-held notion that benign monoclonal gammapathy (BMG) is a premalignant stage in the development of multiple myeloma (MM) is attacked. Jiri Radl argues that clinical and experimental observations indicate that they are separate entities which may be distinguished in the laboratory and which should be managed in radically different ways.

  15. A retrospective clinico-pathological study comparing lichen planus pigmentosus with ashy dermatosis.

    PubMed

    Cheng, Hui Mei; Chuah, Sai Yee; Gan, Emily Yiping; Jhingan, Anjali; Thng, Steven Tien Guan

    2018-04-10

    Controversy persists as to whether lichen planus pigmentosus and ashy dermatosis are separate clinical entities. This study was conducted to examine the clinicopathological features and treatment outcome of the two conditions. A retrospective medical chart review of all patients who were diagnosed with lichen planus pigmentosus or ashy dermatosis was conducted. The information collected included the participants' age at onset, site of onset, duration of disease, presence of precipitating factors, distribution of disease, pigmentation and presence of symptoms. In patients from whom a biopsy was taken the histopathological reports were included. Altogether 26 patients with ashy dermatosis and 29 with lichen planus pigmentosus were included in the study. Compared with ashy dermatosis, lichen planus pigmentosus had a more localised distribution with a preponderance for facial involvement, compared with the truncal preponderance in ashy dermatosis. Ashy dermatosis tended to have a more stable clinical course than lichen planus pigmentosus, which was more likely to wax and wane. The utility of histopathology in differentiating between the two conditions is low. Ashy dermatosis and lichen planus pigmentosus, as defined in this study, appear to be two separate clinical entities with distinguishable clinical features and natural histories. © 2018 The Australasian College of Dermatologists.

  16. The SAPHO syndrome: a clinical and imaging study.

    PubMed

    Sallés, Meritxell; Olivé, Alejandro; Perez-Andres, Ricard; Holgado, Susana; Mateo, Lourdes; Riera, Elena; Tena, Xavier

    2011-02-01

    The purpose of this study is to describe the clinical and radiological manifestations of patients with the synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome. Retrospective study (1984-2007) was performed in a single center. All patients with the SAPHO syndrome were included. Fifty-two patients were included: 26 male, mean age at diagnosis is 42±12 years. Ostearticular involvement was present before cutaneous involvement in 59.6% of patients and concomitantly in 23.5%. Anterior chest pain was the commonest clinical manifestation, it was present in 38 patients (73%), followed by peripheral arthritis in 17 patients (32%), and sacroliliac pain in 14 patients (26.9%). Cutaneous involvement was present in 33 patients (63.5%). HLA B27 antigen was present in eight patients (17.7%). Bone scintigraphy showed an increased uptake in 42 patients (93.3%). The location of the uptake was mainly in sternoclavicular and manubriosternal joints. CT scan was performed in all "hot joints" showing sclerosis, erosions, hyperostosis, and soft tissue involvement. Refractory patients were treated mainly with pamidronate. Although SAPHO syndrome is an entity that share features that fit into a variety of established disease categories, the present study has a homogenous clinical and radiological pattern that gives support to believe that the SAPHO syndrome is an isolated clinical entity.

  17. Progress in the development of animal models of acute kidney injury and its impact on drug discovery.

    PubMed

    Sanz, Ana B; Sanchez-Niño, María Dolores; Martín-Cleary, Catalina; Ortiz, Alberto; Ramos, Adrián M

    2013-07-01

    Acute kidney injury (AKI) is a clinical syndrome characterized by the acute loss of kidney function. AKI is increasingly frequent and is associated with impaired survival and chronic kidney disease progression. Experimental AKI models have contributed to a better understanding of pathophysiological mechanisms but they have not yet resulted in routine clinical application of novel therapeutic approaches. The authors present the advances in experimental AKI models over the last decade. Furthermore, the authors review their current and expected impact on novel drug discovery. New AKI models have been developed in rodents and non-rodents. Non-rodents allow the evaluation of specific aspects of AKI in both bigger animals and simpler organisms such as drosophila and zebrafish. New rodent models have recently reproduced described clinical entities, such as aristolochic and warfarin nephropathies, and have also provided better models for old entities such as thrombotic microangiopathy-induced AKI. Several therapies identified in animal models are now undergoing clinical trials in human AKI, including p53 RNAi and bone-marrow derived mesenchymal stem cells. It is conceivable that further refinement of animal models in combination with ongoing trials and novel trials based on already identified potential targets will eventually yield effective therapies for clinical AKI.

  18. 3M syndrome: a report of four cases in two families.

    PubMed

    Güven, Ayla; Cebeci, Ayşe Nurcan

    2011-01-01

    3M syndrome is a rare entity characterized by severe growth retardation, dysmorphic features and skeletal changes as its major components. It is differentiated from other types of dwarfism by its clinical features and by the typical slender long bones and foreshortened vertebral bodies that can be visualized radiographically. 3M syndrome has an autosomal recessive mode of inheritance. An early diagnosis is important for genetic counseling. In this report, we present four children (3 males, 1 female) from two families who were aged between 4(11/12) and 10(11/12) years and had clinical findings of 3M syndrome. One of these patients had received growth hormone (GH) treatment which was discontinued due to an inadequate height gain. Physicians should be aware of this entity in the differential diagnosis of children with severe short stature and mild skeletal changes.

  19. Metachronous multifocal myxoid liposarcoma involving the gastrointestinal tract. Management and literature review.

    PubMed

    Salemis, Nikolaos S; Seretis, Charalambos; Seretis, Fotios; Christofyllakis, Charalambos; Karalis, Georgios

    2014-01-01

    Multifocal soft tissue sarcoma is a rare clinical entity occurring in 1% of patients with extremity soft tissue sarcoma and in 4.5% of patients with liposarcoma. Multifocal disease may arise either synchronously or metachronously and has been associated with poor prognosis. Herein, we have described a rare case of metachronous multifocal myxoid liposarcoma involving the gastrointestinal tract that developed 14 months after the resection of a myxoid buttock liposarcoma. Diagnostic evaluation and management of the patient are discussed along with a review of the relevant literature. We conclude that multifocal myxoid liposarcoma is a rare clinical entity that usually represents metastatic disease with poor prognosis. A thorough imaging and careful physical examination are essential in the preoperative evaluation and postoperative follow-up of patients with myxoid extremity liposarcomas, as these tumors are known to have a tendency to spread toward extrapulmonary sites, frequently without pulmonary metastases.

  20. Metachronous multifocal myxoid liposarcoma involving the gastrointestinal tract. Management and literature review

    PubMed Central

    Salemis, Nikolaos S.; Seretis, Charalambos; Seretis, Fotios; Christofyllakis, Charalambos; Karalis, Georgios

    2014-01-01

    Multifocal soft tissue sarcoma is a rare clinical entity occurring in 1% of patients with extremity soft tissue sarcoma and in 4.5% of patients with liposarcoma. Multifocal disease may arise either synchronously or metachronously and has been associated with poor prognosis. Herein, we have described a rare case of metachronous multifocal myxoid liposarcoma involving the gastrointestinal tract that developed 14 months after the resection of a myxoid buttock liposarcoma. Diagnostic evaluation and management of the patient are discussed along with a review of the relevant literature. We conclude that multifocal myxoid liposarcoma is a rare clinical entity that usually represents metastatic disease with poor prognosis. A thorough imaging and careful physical examination are essential in the preoperative evaluation and postoperative follow-up of patients with myxoid extremity liposarcomas, as these tumors are known to have a tendency to spread toward extrapulmonary sites, frequently without pulmonary metastases. PMID:24678225

  1. Palisaded Neutrophilic and Granulomatous Dermatitis/Interstitial Granulomatous Dermatitis Overlap: A Striking Clinical and Histologic Presentation With "Burning Rope Sign" and Subsequent Mirror-Image Contralateral Recurrence.

    PubMed

    Kern, Malan; Shiver, Mallory B; Addis, Kristen M; Gardner, Jerad M

    2017-09-01

    Palisaded neutrophilic and granulomatous dermatitis and interstitial granulomatous dermatitis are uncommon granulomatous dermatoses that often arise in association with rheumatoid arthritis. These 2 entities have overlapping features and may exist on a spectrum. We report an intriguing case of a 53-year-old man with advanced rheumatoid arthritis who presented with a large indurated painful truncal plaque with a palpable cord in addition to a papulonodular eruption on his dorsal hands. Furthermore, our patient had a recurrence in a near-identical mirror-image pattern on the contralateral trunk. The constellation of clinical and histopathological findings in our patient further suggests that palisaded neutrophilic and granulomatous dermatitis and interstitial granulomatous dermatitis exist as overlapping disease entities on a continuum. In addition, we propose that recurrence of skin findings may be indicative of the severity of the underlying systemic disease process.

  2. Nontraumatic head and neck injuries: a clinical approach. Part 2.

    PubMed

    Brea Álvarez, B; Esteban García, L; Tuñón Gómez, M; Cepeda Ibarra, Y

    Nontraumatic emergencies of the head and neck represent a challenge in the field of neuroradiology for two reasons. As explained in the first part of this update, these entities affect an area where the thorax joins the cranial cavity and can thus compromise both structures; second, they are uncommon, so they are not well known. Maintaining the same approach as in the first part, focusing on the clinical presentations in the emergency department rather than on the anatomic regions affected, we will study the entities that present with two patterns: those that present with a combination of cervical numbness, dysphagia, and dyspnea and those that present with acute sensory deficits. In the latter group, we will specifically focus on visual deficits, because this is the most common symptom that calls for urgent imaging studies. Copyright © 2017 SERAM. Publicado por Elsevier España, S.L.U. All rights reserved.

  3. [Pneumomediastinum, giant subcutaneous emphysema and pneumoperitoneum revealed by jaw pain. Uncommon physiopathology of pneumomediastinum].

    PubMed

    Le Loch, J-B; Freymond, N; Khettab, F; Pacheco, Y; Devouassoux, G

    2008-02-01

    Spontaneous pneumomediastinum is a rare entity, predominantly described in young man. The association of acute dyspnea, chest pains and subcutaneous emphysema is usually reported. We report the observation of a pneumomediastinum, fortuitously discovered in front of an isolated giant subcutaneous emphysema in a 59 year old man. The recent clinical history was only marked by the presence of intense and acute dental pains. Associated with a pneumoperitoneum, a retro-pneumoperitoneum, this clinical presentation is uncommon and differs from previous published case reports. Despite a complete evaluation of classical risk factors, its origin remains uncertain. However, the presence of huge dental injuries led to consider such local origin, facilitating air diffusion. This case report allows to reconsider spontaneous pneumomediastinum entity and to propose additional physiopathological mechanisms. This original description underlines the interest to systematically perform dental examination in the presence of unexplained pneumomediastinum.

  4. Clinical features of hidradenitis suppurativa and Crohn disease: what do these two entities have in common?

    PubMed

    Vilarrasa Rull, E; González Lama, Y

    2016-09-01

    Hidradenitis suppurativa (HS) and Crohn disease (CD) are chronic, recurrent inflammatory diseases. They share certain clinical characteristics and flares are common in both. Both entities are usually diagnosed between the second and third decades of life and share risk factors such as smoking and overweight. In CD, as in HS, acute untreated episodes of inflammation can lead to sequels such as abscesses, fistulas and stenosis. Consequently, early management is of the utmost importance. Some patients have both diseases. The estimated prevalence of SH in CD patients is 12.4%-17.9%, while the prevalence of CD in HS patients is around 3%. The presence of HS in patients with inflammatory bowel disease (IBD) is associated with an earlier onset of IBD and with more frequent need for anti-TNF-alpha therapy and surgical resection. Copyright © 2016 Elsevier España, S.L.U. y AEDV. All rights reserved.

  5. 3M Syndrome: A Report of Four Cases in Two Families

    PubMed Central

    Cebeci, Ayşe Nurcan

    2011-01-01

    3M syndrome is a rare entity characterized by severe growth retardation, dysmorphic features and skeletal changes as its major components. It is differentiated from other types of dwarfism by its clinical features and by the typical slender long bones and foreshortened vertebral bodies that can be visualized radiographically. 3M syndrome has an autosomal recessive mode of inheritance. An early diagnosis is important for genetic counseling. In this report, we present four children (3 males, 1 female) from two families who were aged between 411/12 and 1011/12 years and had clinical findings of 3M syndrome. One of these patients had received growth hormone (GH) treatment which was discontinued due to an inadequate height gain. Physicians should be aware of this entity in the differential diagnosis of children with severe short stature and mild skeletal changes. Conflict of interest:None declared. PMID:21911330

  6. Clinical benchmarking for the office practitioner enabled by the online health record

    PubMed Central

    Ricciardi, TN; Masarie, FE; Landholt, T; Middleton, B

    2000-01-01

    Payer organizations, regulatory entities, and delivery networks are placing increasing pressure on physicians to report aggregate information about their patients and practice of medicine. Historically, clinicians have been ill-equipped to respond to these pressures when their practices have relied upon payer records for clinical information management. Key Industry Drivers: Physicians need specific information from their practices for the purposes of contract management, preventive care, office productivity, and utilization reviews. Value Statement: Clinical data captured at the point of care can support reporting requirements, and supplement or replace laboriously-collected data derived from billing and other administrative systems. Information from the Online Health Record can empower the individual physician to assess what is going on in their practice of medicine, as opposed to being "profiled" by an external entity. We created a secure web-based system that provides access to a clinical data mart, to allow online benchmarking for the individual or office practitioner. Providers used a web-enabled documentation system to document the clinical facts of the encounter. A nightly set of routines extracts data from the online chart into the clinical data mart built in a relational database. The system uses a clinical vocabulary server to map provider-entered strings to normalized clinical concepts. The system loads chart data into a dimensional data model, to simplify data representation and ensure fast query performance. Providers can access their own profiles from a secure web browser. PMID:11080030

  7. Immunotactoid Glomerulopathy and Cryoglobulinemic Nephropathy: Two Entities with Many Similarities. A Unified Conceptual Approach.

    PubMed

    Herrera, Guillermo A; Ojemakinde, Kunle O; Turbat-Herrera, Elba A; Gu, Xin; Zeng, Xu; Iskandar, Samy S

    2015-01-01

    Immunotactoid glomerulopathy is a rare disorder that has been characterized at the ultrastructural level. Due to its rarity, there are few comprehensive studies relating to this disorder. Electron microscopy essentially characterizes this disease. The glomerular electron dense deposits which are typical of this condition consist of aggregates of highly organized microtubular structures of various diameters, but generally measuring 30-50 nm in width with a propensity to dispose themselves in parallel bundles intersecting in different planes. This study compares a large series of patients with cryoglobulinemic nephropathy with a series of patients with immunotactoid glomerulopathy to address whether there may be similarities that warrant considering these two entities part of a spectrum. This study reviews the clinicopathologic features of both entities and emphasizes ultrastructural findings that characterize them. Significant immunomorphologic overlap was found when these two disorders were compared in this study. There were also striking similarities in clinical presentation/behavior, laboratory findings and prognosis. Proteomic analysis has also demonstrated similar spectra for both entities. We postulate that immunotactoid glomerulopathy and cryoglobulinemic nephropathy are part of the spectrum of renal manifestations in patients with circulating cryoglobulins and renal disease.

  8. Small bowel perforation secondary to metastatic non-small cell lung cancer. A rare entity with a dismal prognosis.

    PubMed

    Salemis, Nikolaos S; Nikou, Efstathios; Liatsos, Christos; Gakis, Christos; Karagkiouzis, Grigorios; Gourgiotis, Stavros

    2012-09-01

    The incidence of gastrointestinal metastases from lung cancer is higher than previously thought as they have been reported in 2-14% of the cases in autopsy studies. However, clinically significant metastases are rare. Small bowel perforation secondary to metastatic non-small cell lung cancer is a very rare clinical entity. The aim of this study is to describe a case of ileal perforation in a patient with intestinal metastases of a non-small cell lung cancer, along with a review of the literature. A 57-year-old male with a history of non-small cell lung cancer was referred to our emergency department with signs and symptoms of acute surgical abdomen. A computed tomography scan demonstrated dilated small bowel loops, liver deposits, and signs of perforation of an intra-abdominal hollow viscus. Emergency exploratory laparotomy revealed diffuse purulent peritonitis and a perforated ileal tumor. A segmental small bowel resection and primary anastomosis were performed. Histological and immunohistochemical findings were consistent with a metastatic non-small cell lung carcinoma. Additional evaluation revealed widespread metastatic disease. Unfortunately, despite adjuvant treatment, the patient died of progressive disease 2 months after surgery. Small bowel perforation due to metastatic non-small cell lung cancer is a very rare clinical entity. The possibility of small bowel metastases should be kept in mind in patients with lung cancer presenting with an acute abdomen. Intestinal perforation occurs in advanced stages and is usually a sign of widespread disease. Aggressive surgery can provide effective palliation and may improve short-term survival. The prognosis is however dismal.

  9. Clinical and Neuroradiological Spectrum of Metronidazole Induced Encephalopathy: Our Experience and the Review of Literature

    PubMed Central

    Panwar, Ajay; Pandit, Alak; Das, Susanta Kumar; Joshi, Bhushan

    2016-01-01

    Metronidazole is an antimicrobial agent mainly used in the treatment of several protozoal and anaerobic infections, additionally, is often used in hepatic encephalopathy and Crohn disease. Apart from peripheral neuropathy, metronidazole can also cause symptoms of central nervous system dysfunction like ataxic gait, dysarthria, seizures, and encephalopathy which may result from both short term and chronic use of this drug and is collectively termed as “metronidazole induced encephalopathy”(MIE). Neuroimaging forms the backbone in clinching the diagnosis of this uncommon entity, especially in cases where there is high index of suspicion of intoxication. Although typical sites of involvement include cerebellum, brain stem and corpus callosum, however, lesions of other sites have also been reported. Once diagnosed, resolution of findings on Magnetic Resonance Imaging (MRI) of the Brain along with clinical improvement remains the mainstay of monitoring. Here we review the key clinical features and MRI findings of MIE as reported in medical literature. We also analyze implication of use of this drug in special situations like hepatic encephalopathy and brain abscess and discuss our experience regarding this entity. PMID:27504340

  10. Oral dyskinesia: a clinical overview.

    PubMed

    Blanchet, Pierre J; Rompré, Pierre H; Lavigne, Gilles J; Lamarche, Claude

    2005-01-01

    Dentists may be the first health care professionals to recognize unusual and abnormal oral movements collectively termed oral dyskinesias. The aims of this clinical overview are to raise the dental community's awareness about this important and complex topic and describe the clinical features and management of the main entities. A MEDLINE search of the different entities reported in the English and French literature was conducted. The main findings of a field study on oral dyskinesia were also reviewed. Involuntary movement disorders are often drug related. In other cases, excessive oral movements may occur at any age in relation to various neuropsychiatric conditions. Orofacial dystonia apparently triggered by dental procedures has also been reported. Edentulousness has been associated with oral stereotypes. In a survey of 352 edentulous elderly individuals attending daycare centers, only 7% displayed visible oral sterotypes, and ill-fitting dentures were suggested as a possible triggering factor for the majority. A multidisciplinary evaluation is desirable in the care of individuals with oral dyskinesia and in the selection of those who may benefit from a prosthodontic approach. A good knowledge of potentially offending drugs may allow avoidance of unnecessary procedures.

  11. Clinical, histopathologic, and genetic features of pediatric primary myelofibrosis--an entity different from adults.

    PubMed

    DeLario, Melissa R; Sheehan, Andrea M; Ataya, Ramona; Bertuch, Alison A; Vega, Carlos; Webb, C Renee; Lopez-Terrada, Dolores; Venkateswaran, Lakshmi

    2012-05-01

    Primary myelofibrosis is a chronic myeloproliferative neoplasm characterized by cytopenias, leukoerythroblastosis, extramedullary hematopoiesis, hepatosplenomegaly and bone marrow fibrosis. Primary myelofibrosis is a rare disorder in adults; children are even less commonly affected by this entity, with the largest pediatric case series reporting on three patients. Most literature suggests spontaneous resolution of myelofibrosis without long term complications in the majority of affected children. We describe the clinical, pathologic, and molecular characteristics and outcomes of nineteen children with primary myelofibrosis treated in our center from 1984 to 2011. Most patients had cytopenia significant enough to require supportive therapy. No child developed malignant transformation and only five of the 19 children (26%) had spontaneous resolution of disease. Sequence analyses for JAK2V617F and MPLW515L mutations were performed on bone marrow samples from 17 and six patients, respectively, and the results were negative. In conclusion, analysis of this large series of pediatric patients with primary myelofibrosis demonstrates distinct clinical, hematologic, bone marrow, and molecular features from adult patients. Copyright © 2012 Wiley Periodicals, Inc.

  12. Understanding the Burden of Adult Female Acne

    PubMed Central

    Kawata, Ariane K.; Daniels, Selena R.; Yeomans, Karen; Burk, Caroline T.; Callender, Valerie D.

    2014-01-01

    Objective: Typically regarded as an adolescent condition, acne among adult females is also prevalent. Limited data are available on the clinical characteristics and burden of adult female acne. The study objective was to describe clinical characteristics and psychosocial impact of acne in adult women. Design: Cross-sectional, web-based survey. Setting: Data were collected from a diverse sample of United States females. Participants: Women ages 25 to 45 years with facial acne (≥25 visible lesions). Measurements: Outcomes included sociodemographic and clinical characteristics, perceptions, coping behaviors, psychosocial impact of acne (health-related quality of life using acne-specific Quality of Life questionnaire and psychological status using Patient Health Questionnaire), and work/productivity. Results: A total of 208 women completed the survey (mean age 35±6 years), comprising White/Caucasian (51.4%), Black/African American (24.5%), Hispanic/Latino (11.1%), Asian (7.7%), and Other (5.3%). Facial acne presented most prominently on cheeks, chin, and forehead and was characterized by erythema, postinflammatory hyperpigmentation, and scarring. Average age of adult onset was 25±6 years, and one-third (33.7%) were diagnosed with acne as an adult. The majority (80.3%) had 25 to 49 visible facial lesions. Acne was perceived as troublesome and impacted self-confidence. Makeup was frequently used to conceal acne. Facial acne negatively affected health-related quality of life, was associated with mild/moderate symptoms of depression and/or anxiety, and impacted ability to concentrate on work or school. Conclusion: Results highlight the multifaceted impact of acne and provide evidence that adult female acne is under-recognized and burdensome. PMID:24578779

  13. Physician-assisted suicide: a review of the literature concerning practical and clinical implications for UK doctors

    PubMed Central

    Hicks, Madelyn Hsiao-Rei

    2006-01-01

    Background A bill to legalize physician-assisted suicide in the UK recently made significant progress in the British House of Lords and will be reintroduced in the future. Until now there has been little discussion of the clinical implications of physician-assisted suicide for the UK. This paper describes problematical issues that became apparent from a review of the medical and psychiatric literature as to the potential effects of legalized physician-assisted suicide. Discussion Most deaths by physician-assisted suicide are likely to occur for the illness of cancer and in the elderly. GPs will deal with most requests for assisted suicide. The UK is likely to have proportionately more PAS deaths than Oregon due to the bill's wider application to individuals with more severe physical disabilities. Evidence from other countries has shown that coercion and unconscious motivations on the part of patients and doctors in the form of transference and countertransference contribute to the misapplication of physician-assisted suicide. Depression influences requests for hastened death in terminally ill patients, but is often under-recognized or dismissed by doctors, some of whom proceed with assisted death anyway. Psychiatric evaluations, though helpful, do not solve these problems. Safeguards that are incorporated into physician-assisted suicide criteria probably decrease but do not prevent its misapplication. Summary The UK is likely to face significant clinical problems arising from physician-assisted suicide if it is legalized. Terminally ill patients with mental illness, especially depression, are particularly vulnerable to the misapplication of physician-assisted suicide despite guidelines and safeguards. PMID:16792812

  14. Auto immune hemolytic anemia in a child precipitated by chicken pox.

    PubMed

    Billoo, Samina Shamim; Jamalvi, Syed Waseem

    2008-05-01

    Auto Immune Hemolytic Anemia (AIHA) is a rare entity in children. We report a case of an adolescent girl with AIHA, which was precipitated by chicken pox. Clinical course over 3 years, till remission is described.

  15. Screening and assessment of chronic pain among children with cerebral palsy: a process evaluation of a pain toolbox.

    PubMed

    Orava, Taryn; Provvidenza, Christine; Townley, Ashleigh; Kingsnorth, Shauna

    2018-06-08

    Though high numbers of children with cerebral palsy experience chronic pain, it remains under-recognized. This paper describes an evaluation of implementation supports and adoption of the Chronic Pain Assessment Toolbox for Children with Disabilities (the Toolbox) to enhance pain screening and assessment practices within a pediatric rehabilitation and complex continuing care hospital. A multicomponent knowledge translation strategy facilitated Toolbox adoption, inclusive of a clinical practice guideline, cerebral palsy practice points and assessment tools. Across the hospital, seven ambulatory care clinics with cerebral palsy caseloads participated in a staggered roll-out (Group 1: exclusive CP caseloads, March-December; Group 2: mixed diagnostic caseloads, August-December). Evaluation measures included client electronic medical record audit, document review and healthcare provider survey and interviews. A significant change in documentation of pain screening and assessment practice from pre-Toolbox (<2%) to post-Toolbox adoption (53%) was found. Uptake in Group 2 clinics lagged behind Group 1. Opportunities to use the Toolbox consistently (based on diagnostic caseload) and frequently (based on client appointments) were noted among contextual factors identified. Overall, the Toolbox was positively received and clinically useful. Findings affirm that the Toolbox, in conjunction with the application of integrated knowledge translation principles and an established knowledge translation framework, has potential to be a useful resource to enrich and standardize chronic pain screening and assessment practices among children with cerebral palsy. Implications for Rehabilitation It is important to engage healthcare providers in the conceptualization, development, implementation and evaluation of a knowledge-to-action best practice product. The Chronic Pain Toolbox for Children with Disabilities provides rehabilitation staff with guidance on pain screening and assessment best practice and offers a range of validated tools that can be incorporated in ambulatory clinic settings to meet varied client needs. Considering unique clinical contexts (i.e., opportunities for use, provider engagement, staffing absences/turnover) is required to optimize and sustain chronic pain screening and assessment practices in rehabilitation outpatient settings.

  16. Increased recognition of Powassan encephalitis in the United States, 1999-2005.

    PubMed

    Hinten, Steven R; Beckett, Geoffrey A; Gensheimer, Kathleen F; Pritchard, Elizabeth; Courtney, Thomas M; Sears, Stephen D; Woytowicz, John M; Preston, David G; Smith, Robert P; Rand, Peter W; Lacombe, Eleanor H; Holman, Mary S; Lubelczyk, Charles B; Kelso, Patsy Tassler; Beelen, Andrew P; Stobierski, Mary Grace; Sotir, Mark J; Wong, Susan; Ebel, Gregory; Kosoy, Olga; Piesman, Joseph; Campbell, Grant L; Marfin, Anthony A

    2008-12-01

    Powassan virus (POWV) disease is a rare human disease caused by a tick-borne encephalitis group flavivirus maintained in a transmission cycle between Ixodes cookei and other ixodid ticks and small and medium-sized mammals. During 1958-1998, only 27 POWV disease cases (mostly Powassan encephalitis) were reported from eastern Canada and the northeastern United States (average, 0.7 cases per year). During 1999-2005, nine cases (described herein) of serologically confirmed POWV disease were reported in the United States (average, 1.3 cases per year): four from Maine, two from New York, and one each from Michigan, Vermont, and Wisconsin. The Michigan and Wisconsin cases are the first ever reported from the north-central United States. Of these nine patients, 5 (56%) were men, the median age was 69 years (range: 25-91 years), and 6 (67%) had onset during May-July. All but one patient developed encephalitis with acute onset of profound muscle weakness, confusion, and other severe neurologic signs. In one case, no neurologic symptoms were present but the presence of pleocytosis, an elevated cerebrospinal fluid (CSF) protein concentration, and POWV-specific immunoglobulin M in CSF suggested neuroinvasion. All patients recovered from their acute disease, but most had long-term neurologic sequelae. Periresidential ecologic investigations were performed in three cases, including tests of local mammals and ticks for evidence of POWV infection. Woodchucks (Marmota monax), striped skunks (Mephitis mephitis), and a raccoon (Procyon lotor) collected at two of the Maine case-patients' residences had neutralizing antibody titers to POWV. I. cookei were found on woodchucks and skunks and questing in grassy areas of one of these residences; all were negative for POWV. Although POWV disease is rare, it is probably under-recognized, and it causes significant morbidity, and thus is an additional tick-borne emerging infectious disease entity. Because no vaccine or specific therapy is available, the basis of prevention is personal protection from ticks (or "tick hygiene") and reduced exposure to peridomestic wild mammals.

  17. Lymphedematous fibroepithelial polyps of the glans penis and prepuce: a clinicopathologic study of 7 cases demonstrating a strong association with chronic condom catheter use.

    PubMed

    Fetsch, John F; Davis, Charles J; Hallman, James R; Chung, Luke S; Lupton, George P; Sesterhenn, Isabell A

    2004-02-01

    This report describes an underrecognized entity of the penis that is associated with chronic condom catheter use and phimosis. Our study group consisted of 7 patients who presented with polypoid or cauliflower-like masses that involved the glans penis or prepuce and that ranged in size from 2 to 7.5 cm in greatest dimension (median size, 2.5 cm). The majority of lesions affected the ventral surface of the glans, near the urethral meatus. The patients ranged in age from 25 to 58 years (median age, 40 years) at the time of initial surgical resection. The preoperative duration of the lesions ranged from 6 months to 10 years. Five patients had a history of long-term condom catheter use (duration: 5 to 21 years), and 1 patient had paraphimosis. The background history for 1 patient is unknown. Histologically, all specimens had a polypoid configuration and a keratinizing squamous epithelial surface. The underlying stroma was notably edematous, and there was vascular dilation of preexisting vessels, and in many instances, a focal mild small vessel proliferation. The stroma had mildly to moderately increased cellularity with mononucleated and multinucleated mesenchymal cells. A mild inflammatory infiltrate was often present. Two cases were examined with immunohistochemistry, and the stromal cells had limited immunoreactivity for muscle-specific actin, alpha-smooth muscle actin, and desmin and had no reactivity for S100 protein or CD34. Surgical intervention was local in all instances. Follow-up information was available for 5 of the 7 patients (71%), with a mean follow-up interval of 11 years 4 months. Two patients developed a local recurrence of the process at intervals of less than 1 years and 3 years 7 months. Both recurrent lesions were also managed by local excision.

  18. The fourth branchial complex anomaly: a rare clinical entity.

    PubMed

    Patel, Alpen B; Hinni, Michael L

    2011-01-01

    Fourth branchial pouch anomalies are rare congenital disorders of the neck and are a consequence of abnormal development of the branchial apparatus during embryogenesis. Failure to appropriately recognize these anomalies may result in misdiagnosis, insufficient treatment, and continued recurrence. Here, we present an unique presentation of two cases, describe their diagnosis, clinical course, and management, and review the literature regarding these interesting anomalies.

  19. The Fourth Branchial Complex Anomaly: A Rare Clinical Entity

    PubMed Central

    Patel, Alpen B.; Hinni, Michael L.

    2011-01-01

    Fourth branchial pouch anomalies are rare congenital disorders of the neck and are a consequence of abnormal development of the branchial apparatus during embryogenesis. Failure to appropriately recognize these anomalies may result in misdiagnosis, insufficient treatment, and continued recurrence. Here, we present an unique presentation of two cases, describe their diagnosis, clinical course, and management, and review the literature regarding these interesting anomalies. PMID:22937376

  20. EPIRUS-NET: A Wireless Health Telematics Network in Greece

    DTIC Science & Technology

    2001-10-25

    has also to be made. The system is represented of three basic layers: the database layer, the middleware and the Hospital Daily Progress Anamnesis ... Anamnesis . The Encounter entry is uniquely identified by the incremental ID, IID, attribute. Each encounter entry is associated with a clinical...the main entities of the system (Hospital, Patient, Anamnesis , Encounter, Clinical Examination, Daily Progress, Examination, Release Ticket), along

  1. Participation of racial/ethnic groups in clinical trials and race-related labeling: a review of new molecular entities approved 1995-1999.

    PubMed Central

    Evelyn, B.; Toigo, T.; Banks, D.; Pohl, D.; Gray, K.; Robins, B.; Ernat, J.

    2001-01-01

    Few recent data are available from formal evaluations of approved new drug applications to address perceptions that racial and ethnic groups are under-represented in clinical trials of new drugs. This study reviews racial and ethnic group participation in clinical trials and race-related labeling for new molecular entities approved during a five-year period by the Food and Drug Administration's (FDA) Center for Drug Evaluation and Research (CDER). This was a retrospective review of FDA medical officers' reviews of clinical trial protocols and product labeling for 185 new molecular entities (NME's) approved by CDER between January 1,1995, and December 31, 1999. Enrollment data were obtained from the reviews and tabulated according to race/ethnicity. The approved product labeling was searched for statements related to product testing in various racial/ethnic groups. All data were compiled and analyzed using Microsoft Access. This study quantifies the participation of racial/ethnic groups in clinical trials by year and therapeutic category. Additionally, the study categorizes labeling based on the types of effects described as related to race/ethnicity. Racial and ethnic groups appear to participate in clinical trials to varying degrees. African Americans participated in trials to the greatest extent; however, their participation steadily declined from 12% in 1995 to 6% in 1999. Among trials known to be conducted only in the U.S., African-American participation is comparable to their representation in the U.S. population. In all cases, participants designated as Hispanic appear to be far below their representation in the population. Some differences in participation for all racial and ethnic groups are seen when comparisons from year-to-year or among drug classes are made. Labeling for 45% (84/185) of the products contained some statement about race, although in only 8% (15/185) were differences related to race described. Fifty percent (50%) of the effects were pharmacokinetic, 39% were efficacy, and 11% were safety. One product label recommended a change in dosage based on racial differences. Images Figure 1 Figure 2 Figure 3 Figure 4 Figure 5 Figure 7 PMID:11798060

  2. Building a comprehensive syntactic and semantic corpus of Chinese clinical texts.

    PubMed

    He, Bin; Dong, Bin; Guan, Yi; Yang, Jinfeng; Jiang, Zhipeng; Yu, Qiubin; Cheng, Jianyi; Qu, Chunyan

    2017-05-01

    To build a comprehensive corpus covering syntactic and semantic annotations of Chinese clinical texts with corresponding annotation guidelines and methods as well as to develop tools trained on the annotated corpus, which supplies baselines for research on Chinese texts in the clinical domain. An iterative annotation method was proposed to train annotators and to develop annotation guidelines. Then, by using annotation quality assurance measures, a comprehensive corpus was built, containing annotations of part-of-speech (POS) tags, syntactic tags, entities, assertions, and relations. Inter-annotator agreement (IAA) was calculated to evaluate the annotation quality and a Chinese clinical text processing and information extraction system (CCTPIES) was developed based on our annotated corpus. The syntactic corpus consists of 138 Chinese clinical documents with 47,426 tokens and 2612 full parsing trees, while the semantic corpus includes 992 documents that annotated 39,511 entities with their assertions and 7693 relations. IAA evaluation shows that this comprehensive corpus is of good quality, and the system modules are effective. The annotated corpus makes a considerable contribution to natural language processing (NLP) research into Chinese texts in the clinical domain. However, this corpus has a number of limitations. Some additional types of clinical text should be introduced to improve corpus coverage and active learning methods should be utilized to promote annotation efficiency. In this study, several annotation guidelines and an annotation method for Chinese clinical texts were proposed, and a comprehensive corpus with its NLP modules were constructed, providing a foundation for further study of applying NLP techniques to Chinese texts in the clinical domain. Copyright © 2017. Published by Elsevier Inc.

  3. Clinical significance of heterotopic gastric mucosal patch of the proximal esophagus

    PubMed Central

    Chong, Vui Heng

    2013-01-01

    Heterotopic gastric mucosa of the proximal esophagus (HGMPE), also referred to as “inlet patch” or “cervical inlet patch”, is a salmon colored patch that is usually located just distal to the upper esophageal sphincter. HGMPE is uncommon with endoscopic studies reporting a prevalence ranging from less than one percent to 18%. Most HGMPE are asymptomatic and are detected incidentally during endoscopy for evaluations of other gastrointestinal complaints. Most consider HGMPE as clinically irrelevant entity. The clinical significance of HGMPE is mainly acid related or neoplastic transformation. The reported prevalence of laryngopharyngeal reflux symptoms varies from less than 20% to as high as 73.1%. However, most of these symptoms are mild. Clinically significant acid related complications such as bleeding, ulcerations, structure and fistulization have been reported. Although rare, dysplastic changes and malignancies in association with HGMPE have also been reported. Associations with Barrett’s esophagus have also been reported but the findings so far have been conflicting. There are still many areas that are unknown or not well understood and these include the natural history of HGMPE, risk factors for complications, role of Helicobacter pylori infection and factors associated with malignant transformations. Follow-up may need to be considered for patients with complications of HGMPE and surveillance if biopsies show intestinal metaplasia or dysplastic changes. Despite the overall low incidence of clinically relevant manifestations reported in the literature, HGMPE is a clinically significant entity but further researches are required to better understand its clinical significance. PMID:23372354

  4. Comparative symptomatology of burnout and depression.

    PubMed

    Bianchi, Renzo; Boffy, Claire; Hingray, Coraline; Truchot, Didier; Laurent, Eric

    2013-06-01

    The link between burnout and depression remains unclear. In this study, we compared depressive symptoms in 46 burned-out workers, 46 outpatients experiencing a major depressive episode, and 453 burnout-free workers to test the distinctiveness of burnout as a clinical entity. Participants with burnout and major depressive episode reported similar, severe levels of overall depressive symptoms. The between-syndrome overlap was further verified for eight of the nine major depressive episode diagnostic criteria of the Diagnostic and Statistical Manual of Mental Disorders (4th ed., text rev.). Our findings do not support the view hypothesizing that burnout and depression are separate entities and question the nosological added value of the burnout construct.

  5. [Nonspecific interstitial pneumonitis: a clinicopathologic entity, histologic pattern or unclassified group of heterogeneous interstitial pneumonitis?].

    PubMed

    Morais, António; Moura, M Conceição Souto; Cruz, M Rosa; Gomes, Isabel

    2004-01-01

    Nonspecific interstitial pneumonitis (NSIP) initially described by Katzenstein and Fiorelli in 1994, seems to be a distinct clinicopathologic entity among idiopathic interstitial pneumonitis (IIP). Besides different histologic features from other IIP, NSIP is characterized by a better long-term outcome, associated with a better steroids responsiveness than idiopathic pulmonar fibrosis (IPF), where usually were included. Thus, differentiating NSIP from other IIP, namely IPF is very significant, since it has important therapeutic and prognostic implications. NSIP encloses different pathologies, namely those with inflammatory predominance (cellular subtype) or fibrous predominance (fibrosing subtype). NSIP is reviewed and discussed by the authors, after two clinical cases description.

  6. MRI findings in acute hyperammonemic encephalopathy resulting from decompensated chronic liver disease.

    PubMed

    Sureka, Jyoti; Jakkani, Ravi Kanth; Panwar, Sanuj

    2012-06-01

    Hyperammonemic encephalopathy is a type of metabolic encephalopathy with diversified etiology. Hyperammonemia is the end result of several metabolic disorders such as congenital deficiencies of urea cycle enzymes, hepatic encephalopathy, Reye's syndrome and other toxic encephalopathies. Non-specific clinical presentation poses a great challenge in early diagnosis of this entity. Irrespective of the underlying etiology, hyperammonemia causes a distinctive pattern of brain parenchymal injury. The cingulate gyrus and insular cortex are more vulnerable to this type of toxic insult. Characteristic magnetic resonance imaging findings in combination with laboratory parameters can help to differentiate this entity from other metabolic encephalopathy and thus aiding in early diagnosis and treatment.

  7. Politics, culture, and the legitimacy of disease: the case of Buerger's disease.

    PubMed

    Lockwood, Stephen J; Bresler, Scott C; Granter, Scott R

    2016-09-01

    Thromboangiitis obliterans (TAO) or Buerger's disease is a rare form of vasculitis with distinctive clinical and pathological features that carries significant morbidity, often leading to amputation, and is strongly associated with tobacco smoking. Despite its distinctive clinicopathological characteristics, the existence of TAO as an entity sui generis was challenged for many years as it languished in relative obscurity. Then, as societal attitudes towards smoking changed, TAO not only became accepted as a disease entity, it quite literally became a poster child to illustrate the ills of smoking. Herein, we examine the history of TAO to illustrate the power of societal attitudes and politics in shaping medicine.

  8. Pure spinal multiple sclerosis: A possible novel entity within the multiple sclerosis disease spectrum.

    PubMed

    Schee, Jie Ping; Viswanathan, Shanthi

    2018-05-01

    We identified five female patients retrospectively with relapsing short-segment partial myelitis whose clinical and paraclinical features were suggestive of cord involvement of multiple sclerosis (MS)-type albeit not rigidly fulfilling the 2017 McDonald criteria. Notably, these patients had not developed any typical MS-like brain lesions despite repeated neuroimaging assessments over years. Comprehensive work-up for differential diagnoses of MS and other causes of transverse myelitis particularly neuromyelitis optica spectrum disorders had been consistently negative on longitudinal follow-up. Thus, we postulate a possible entity of pure spinal MS which may represent a novel forme fruste within the MS disease spectrum.

  9. Case Report: A giant but silent adrenal pheochromocytoma – a rare entity

    PubMed Central

    Munakomi, Sunil; Rajbanshi, Saroj; Adhikary, Prof Shailesh

    2016-01-01

    Herein we report a rare entity of a giant adrenal pheochromocytoma in a fifty-year-old male presenting with a vague abdominal pain. A computerised tomogram of the abdomen revealed a well-defined  left supraadrenal giant lesion with no evidence of invasion to surrounding structures.The patient underwent surgical excision without any untoward postoperative events. Histopathological study revealed a benign pheochromocytoma. This report highlights the importance of acknowledging the fact that sometimes a giant adrenal pheochromocytoma can present with paucity of clinical  signs and symptoms.Thorough investigations and a multidisciplinary team approach may lead  to a better outcome in these patients. PMID:27785358

  10. Brief Report: Acrocallosal Syndrome and Autism

    ERIC Educational Resources Information Center

    Steiner, Carlos Eduardo; Guerreiro, Marilisa Mantovani; Marques-de-Faria, Antonia Paula

    2004-01-01

    The authors describe a boy presenting with acrocallosal syndrome and autism. Clinical features included craniofacial dysmorphisms, polydactyly, and mental retardation, besides behavioral symptoms compatible with autism. Neuroimaging revealed hypoplasia of the corpus callosum and cerebellar abnormalities. The role of this entity and other…

  11. The emergence of overweight as a disease entity: measuring up normality.

    PubMed

    Jutel, Annemarie

    2006-11-01

    As Charles Rosenberg [(2002). The tyranny of diagnosis. The Milbank Quarterly, 80, 237-260] has recently written, clinical diagnosis contributes to imposing structure on cultural reality in a manner which is not unproblematic. A social power resides in the process of naming diseases-one, which legitimises concerns, explains reality, naturalises deviance and imposes status. But clinical entities are not static, as both the concerns of society, and the technological ability of practitioners change (what Rosenberg refers to as the "iatrogenesis of nosology"), so too do the range of labels available for identifying disease. In this paper, I argue that being "overweight," once predominantly an adjectival descriptor of corpulence, a physical sign or a symptom, and even, in some cultures, a sign of wealth and status, is undergoing the transformation to disease entity. I suggest that evidence of this is present in both the frequency and the way in which the term is being used by the media, the medical establishment and the laity. I argue that this change stems from the convergence of two particular phenomena. The first is the belief in the neutrality of quantification, and the objectivity that measurement brings to qualitative description. The second is the importance attributed to normative appearance in health. I discuss some of the implications of this evolution and its impact on health practices, including the exploitation of this purported disease state for commercial benefit.

  12. D’Andrea’s disease (angiomegaly): a currently well-defined nosological entitys.

    PubMed

    Taurone, S; Spoletini, M; Di Matteo, F M; Mele, R; Tromba, L; Grippaudo, F R; Minni, A; Artico, M

    2017-01-01

    In 1997 D’Andrea et al. described a new nosological entity the characteristics of which consisted of lengthening, dilation and tortuosity of blood vessels, arteries or veins, less prominent, but also less circumscribed than an aneurysm. This condition does not necessarily imply specific aneurysm formation although aneurysms at multiple sites are a frequent observation. The term used by authors for angiomegaly of the venous system was venomegaly and the analogous condition of the arterial system was termed arteriomegaly. Although tortuosity and dilation of arteries and veins have been widely reported, suggesting a systemic disorder which affects the structural integrity of all vessels, most papers dealing with this intriguing condition did not describe any alterations in the components of vessel walls. In the present paper, the authors describe a well-defined condition, D’Andrea’s Disease (or DD, in this article), analyzing its salient morphological and clinical features and clarifying this pathological condition as a distinct and now well-defined nosological entity.

  13. Adult bile duct strictures: differentiating benign biliary stenosis from cholangiocarcinoma.

    PubMed

    Nguyen Canh, Hiep; Harada, Kenichi

    2016-12-01

    Biliary epithelial cells preferentially respond to various insults under chronic pathological conditions leading to reactively atypical changes, hyperplasia, or the development of biliary neoplasms (such as biliary intraepithelial neoplasia, intraductal papillary neoplasm of the bile duct, and cholangiocarcinoma). Moreover, benign biliary strictures can be caused by a variety of disorders (such as IgG4-related sclerosing cholangitis, eosinophilic cholangitis, and follicular cholangitis) and often mimic malignancies, despite their benign nature. In addition, primary sclerosing cholangitis is a well-characterized precursor lesion of cholangiocarcinoma and many other chronic inflammatory disorders increase the risk of malignancies. Because of these factors and the changes in biliary epithelial cells, biliary strictures frequently pose a diagnostic challenge. Although the ability to differentiate neoplastic from non-neoplastic biliary strictures has markedly progressed with the advance in radiological modalities, brush cytology and bile duct biopsy examination remains effective. However, no single modality is adequate to diagnose benign biliary strictures because of the low sensitivity. Therefore, understanding the underlying causes by compiling the entire clinical, laboratory, and imaging data; considering the under-recognized causes; and collaborating between experts in various fields including cytopathologists with multiple approaches is necessary to achieve an accurate diagnosis.

  14. The prevalence, impairment, impact, and burden of premenstrual dysphoric disorder (PMS/PMDD).

    PubMed

    Halbreich, Uriel; Borenstein, Jeff; Pearlstein, Terry; Kahn, Linda S

    2003-08-01

    Currently it is estimated that 3-8% of women of reproductive age meet strict criteria for premenstrual dysphoric disorder (PMDD). Assessment of published reports demonstrate that the prevalence of clinically relevant dysphoric premenstrual disorder is probably higher. 13-18% of women of reproductive age may have premenstrual dysphoric symptoms severe enough to induce impairment and distress, though the number of symptoms may not meet the arbitrary count of 5 symptoms on the PMDD list. The impairment and lowered quality of life for PMDD is similar to that of dysthymic disorder and is not much lower than major depressive disorder. Nevertheless, PMS/PMDD is still under-recognized in large published epidemiological studies, as well as assessments of burden of disease. It is demonstrated here that the burden of PMS/PMDD as well as the disability adjusted life years (DALY) lost due to this repeated-cyclic disorder is in the same magnitude as major recognized disorders. Appropriate recognition of the disorder and its impact should lead to treatment of more women with PMS/PMDD. Efficacious treatments are available. They should reduce individual suffering and impact on family, society, and economy.

  15. Dystonia and Paroxysmal Dyskinesias: Under-Recognized Movement Disorders in Domestic Animals? A Comparison with Human Dystonia/Paroxysmal Dyskinesias.

    PubMed

    Richter, Angelika; Hamann, Melanie; Wissel, Jörg; Volk, Holger A

    2015-01-01

    Dystonia is defined as a neurological syndrome characterized by involuntary sustained or intermittent muscle contractions causing twisting, often repetitive movements, and postures. Paroxysmal dyskinesias are episodic movement disorders encompassing dystonia, chorea, athetosis, and ballism in conscious individuals. Several decades of research have enhanced the understanding of the etiology of human dystonia and dyskinesias that are associated with dystonia, but the pathophysiology remains largely unknown. The spontaneous occurrence of hereditary dystonia and paroxysmal dyskinesia is well documented in rodents used as animal models in basic dystonia research. Several hyperkinetic movement disorders, described in dogs, horses and cattle, show similarities to these human movement disorders. Although dystonia is regarded as the third most common movement disorder in humans, it is often misdiagnosed because of the heterogeneity of etiology and clinical presentation. Since these conditions are poorly known in veterinary practice, their prevalence may be underestimated in veterinary medicine. In order to attract attention to these movement disorders, i.e., dystonia and paroxysmal dyskinesias associated with dystonia, and to enhance interest in translational research, this review gives a brief overview of the current literature regarding dystonia/paroxysmal dyskinesia in humans and summarizes similar hereditary movement disorders reported in domestic animals.

  16. Depression in amyotrophic lateral sclerosis

    PubMed Central

    ATASSI, NAZEM; COOK, AMANDA; PINEDA, CRISTIANA M. E.; YERRAMILLI-RAO, PADMAJA; PULLEY, DARLENE; CUDKOWICZ, MERIT

    2011-01-01

    Depression is an under-recognized comorbidity associated with amyotrophic lateral sclerosis (ALS). The goals of this study were to prospectively estimate the prevalence of depression and other ALS related symptoms and to study the impact of depression on enrollment in research studies. One hundred and twenty-seven people with ALS completed the ALS Depression Inventory (ADI-12) and answered questions about ALS related symptoms and research study enrollment preferences. Demographics, ALS symptoms, medications, functional status, and research enrollment were compared between depressed and non-depressed patients. Results showed that the prevalence of mild and severe depression was 29% and 6%, respectively. More than one-third of our ALS patients were receiving anti-depressants to treat depression, sialorrhea, and pseudobulbar affect. Depression prevalence was not correlated with disease duration or progression. Except for anxiety, none of the ALS related symptoms predicted depression. The presence of depression did not have an effect on the decision to enroll in research studies. In conclusion, major depression is less common in our ALS cohort than in the general population. The diagnosis of depression can be masked by some ALS related symptoms and it has no impact on enrollment in ALS clinical trials. PMID:21091399

  17. Compulsive buying. Demography, phenomenology, and comorbidity in 46 subjects.

    PubMed

    Schlosser, S; Black, D W; Repertinger, S; Freet, D

    1994-05-01

    Compulsive buying has been generally ignored in the psychiatric literature, although it is apparently frequent, underrecognized, and can lead to severe financial and legal consequences for its sufferers. The current investigation was designed to assess the overall life-style and problems of subjects identified as compulsive shoppers. Forty-six compulsive buyers were assessed for comorbid psychiatric disorders with the Diagnostic Interview Schedule, the Structured Interview for DSM-III-R Personality Disorders, and a semistructured interview to assess buying behavior. The typical shopper was a 31-year-old female who had developed compulsive buying at age 18 years. Subjects spent their money on clothing, shoes, and records/compact discs. The average debt load accrued was $5,422 out of an average yearly income of $23,443. More than two-thirds met lifetime criteria for a major (Axis I) mental disorder, most commonly anxiety, substance abuse, and mood disorders. Nearly 60% were found to meet criteria for a DSM-III-R personality disorder, most commonly the obsessive-compulsive, borderline, and avoidant types. The authors conclude that compulsive buying is a definable clinical syndrome which can cause its sufferers significant distress and is associated with significant psychiatric comorbidity.

  18. Rate-Related Left Bundle Branch Block and Cardiac Memory in a Patient with Bradycardia: Case Report and Literature Review.

    PubMed

    Seibolt, Luke; Maestas, Camila; Lazkani, Mohamad; Fatima, Umaima; Loli, Akil; Chesser, Michael

    2018-06-19

    Rate-related left bundle branch block (LBBB) is a well-studied phenomenon. Cardiac memory is another physiologic phenomenon in which T-wave abnormalities occur in the absence of ischemia. The association between these two phenomena has been described in several case reports. A literature review was performed through OVID and Pubmed, where at total of 93 cases of rate- related LBBB were identified. Cases were reviewed and data were collected on rates of appearance and disappearance as well as the presence or absence of cardiac memory. There is some overlap in the rate at which LBBB appear. Cardiac memory is associated with rate-related LBBB in several cases but its true prevalence is unknown. Cardiac memory is a phenomenon that is well described in the literature but is often under-recognized in clinical practice. As a consequence of overlooking this phenomenon and not including cardiac memory in the differential when T-wave abnormalities are observed, patients may be subjected to unnecessary invasive diagnostic testing. This article is protected by copyright. All rights reserved. This article is protected by copyright. All rights reserved.

  19. Pathology of idiopathic non-cirrhotic portal hypertension.

    PubMed

    Guido, Maria; Sarcognato, Samantha; Sacchi, Diana; Colloredo, Guido

    2018-04-12

    Idiopathic non-cirrhotic portal hypertension is an under-recognized vascular liver disease of unknown etiology, characterized by clinical signs of portal hypertension in the absence of cirrhosis. By definition, any disorder known to cause portal hypertension in the absence of cirrhosis and any cause of chronic liver disease must be excluded to make a diagnosis of idiopathic non-cirrhotic portal hypertension. However, the diagnosis is often difficult because the disease resembles cirrhosis and there is no gold standard test. Liver biopsy is an essential tool: it is able to exclude cirrhosis and other causes of portal hypertension and it allows the identification of the characteristic lesions. Nonetheless, the histological diagnosis of idiopathic non-cirrhotic portal hypertension is not always straightforward, in particular by needle biopsy samples, because there is no pathognomonic lesion, but rather a variety of vascular changes which are unevenly distributed, very subtle, and not all necessarily identified in a single specimen. Pathologists should be able to recognize several patterns of injury, involving portal/periportal areas as well as parenchymal structures.The histological features of idiopathic non-cirrhotic portal hypertension are described in this review, focusing on their interpretation in needle biopsy specimens.

  20. [Delirium: The 7th Vital Sign?

    PubMed

    Prayce, Rita; Quaresma, Filipa; Neto, Isabel Galriça

    2018-01-31

    Delirium is an acute, transient and fluctuating neuropsychiatric syndrome that is common in medical wards, particularly in the geriatric and palliative care population. We present a brief literature review of the definition, pathophysiology, aetiology, diagnosis, prevention and treatment of delirium and its social and economic impact. Delirium is under-recognized, especially by health professionals, and is associated with higher morbidity, mortality and economic burden. Moreover, the presence of delirium interferes with the evaluation and approach to other symptoms. Furthermore, it causes significant distress in patient's families and health professionals. The best treatment for delirium is prevention which is based on multidisciplinary interventions that addresses the main risk factors. The scientific evidence for the treatment of delirium is scarce. Non-pharmacological approaches are usually the first choice, and includes environmental, behavioural and social strategies. Pharmacological options, mainly antipsychotics, are a second-line treatment used essentially to prevent self harm. The recognition and prevention of delirium are crucial. Health professional education and training, patient clinical monitoring and families support are mandatory. Considering the impact of delirium on patients, relatives, health services and professionals we must be more aware of delirium and, why not, make it the 7th vital sign.

  1. Chronic daily headache in the elderly.

    PubMed

    Özge, Aynur

    2013-12-01

    Disabling headache disorders are ubiquitous in all age groups, including the elderly, yet they are under-recognized, underdiagnosed and undertreated worldwide. Surveys and clinic-based research reports on headache disorders in elderly populations are extremely limited in number. Chronic daily headache (CDH) is an important and growing subtype of primary headache disorders, associated with increased burden and disruption to quality of life. CDH can be divided into two forms, based on headache duration. Common forms of primary headache disorders of long duration (>4 hours) were comprehensively defined in the third edition of the International Classification of Headache Disorders (ICHD-3 beta). These include chronic migraine, chronic tension-type headache, new daily persistent headache, and hemicrania continua. Rarer short-duration (<4 hours) forms of CDH are chronic cluster headache, chronic paroxysmal hemicrania, SUNCT, and hypnic headache. Accurate diagnosis, management, and relief of the burden of CDH in the elderly population present numerous unique challenges as the "aging world" continues to grow. In order to implement appropriate coping strategies for the elderly, it is essential to establish the correct diagnosis at each step and to exercise caution in differentiating from secondary causes, while always taking into consideration the unique needs and limitations of the aged body.

  2. 42 CFR 2a.2 - Definitions.

    Code of Federal Regulations, 2012 CFR

    2012-10-01

    ...-RESEARCH SUBJECTS § 2a.2 Definitions. (a) Secretary means the Secretary of Health and Human Services and... subdivision or agency, business trust, partnership, association, or other legal entity. (c) Research means... includes, but is not limited to, behavioral science studies, surveys, evaluations, and clinical...

  3. 42 CFR 2a.2 - Definitions.

    Code of Federal Regulations, 2013 CFR

    2013-10-01

    ...-RESEARCH SUBJECTS § 2a.2 Definitions. (a) Secretary means the Secretary of Health and Human Services and... subdivision or agency, business trust, partnership, association, or other legal entity. (c) Research means... includes, but is not limited to, behavioral science studies, surveys, evaluations, and clinical...

  4. 42 CFR 2a.2 - Definitions.

    Code of Federal Regulations, 2014 CFR

    2014-10-01

    ...-RESEARCH SUBJECTS § 2a.2 Definitions. (a) Secretary means the Secretary of Health and Human Services and... subdivision or agency, business trust, partnership, association, or other legal entity. (c) Research means... includes, but is not limited to, behavioral science studies, surveys, evaluations, and clinical...

  5. 42 CFR 2a.2 - Definitions.

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ...-RESEARCH SUBJECTS § 2a.2 Definitions. (a) Secretary means the Secretary of Health and Human Services and... subdivision or agency, business trust, partnership, association, or other legal entity. (c) Research means... includes, but is not limited to, behavioral science studies, surveys, evaluations, and clinical...

  6. 42 CFR 2a.2 - Definitions.

    Code of Federal Regulations, 2011 CFR

    2011-10-01

    ...-RESEARCH SUBJECTS § 2a.2 Definitions. (a) Secretary means the Secretary of Health and Human Services and... subdivision or agency, business trust, partnership, association, or other legal entity. (c) Research means... includes, but is not limited to, behavioral science studies, surveys, evaluations, and clinical...

  7. Efficient Execution Methods of Pivoting for Bulk Extraction of Entity-Attribute-Value-Modeled Data

    PubMed Central

    Luo, Gang; Frey, Lewis J.

    2017-01-01

    Entity-attribute-value (EAV) tables are widely used to store data in electronic medical records and clinical study data management systems. Before they can be used by various analytical (e.g., data mining and machine learning) programs, EAV-modeled data usually must be transformed into conventional relational table format through pivot operations. This time-consuming and resource-intensive process is often performed repeatedly on a regular basis, e.g., to provide a daily refresh of the content in a clinical data warehouse. Thus, it would be beneficial to make pivot operations as efficient as possible. In this paper, we present three techniques for improving the efficiency of pivot operations: 1) filtering out EAV tuples related to unneeded clinical parameters early on; 2) supporting pivoting across multiple EAV tables; and 3) conducting multi-query optimization. We demonstrate the effectiveness of our techniques through implementation. We show that our optimized execution method of pivoting using these techniques significantly outperforms the current basic execution method of pivoting. Our techniques can be used to build a data extraction tool to simplify the specification of and improve the efficiency of extracting data from the EAV tables in electronic medical records and clinical study data management systems. PMID:25608318

  8. Contact dermatitis in saffron workers: clinical profile and identification of contact sensitizers in a saffron-cultivating area of Kashmir Valley of North India.

    PubMed

    Hassan, Iffat; Kamili, Afifa; Rasool, Farhan; Nehvi, Firdous; Rather, Parvaiz; Yasmin, Salwee; Pampori, Rafiq A; Jabeen, Yasmeen; Yaseen, Atiya; Bashir, Safia; Naaz, Saima

    2015-01-01

    Saffron, a bulbous perennial plant belonging to Iridaceae family, is the most expensive cultivated herb that is widely used for industrial and nonindustrial purposes. However, besides its attractive and valuable properties, contact dermatitis due to saffron is an uncommon reported entity. The aims of this study were to determine the clinical pattern patch-testing profile of contact dermatitis in saffron workers and to identify the most common allergens/sensitizers. One hundred ten saffron workers were patch-tested with 39 allergens, which included Indian standard series antigens, plant series antigens, and extracts from different parts of saffron flower. The allergens in Indian standard series accounted for 52.44% of positive reactions. Plant series and different parts of saffron accounted for 47.56% of the positive reactions. Among those patients with positive responses to the supplemental saffron allergens, 83.3% were of present or past relevance. The data observed in the present study confirm that the saffron dermatitis is a distinct clinical entity with characteristic clinical presentation and has a strong significance as an occupational allergen in those handling this plant. Patch testing with different parts of saffron flower has a role to play in finding out the etiological cause.

  9. Segmental stiff skin syndrome (SSS): A distinct clinical entity.

    PubMed

    Myers, Kathryn L; Mir, Adnan; Schaffer, Julie V; Meehan, Shane A; Orlow, Seth J; Brinster, Nooshin K

    2016-07-01

    Stiff skin syndrome (SSS) is a noninflammatory, fibrosing condition of the skin, often affecting the limb girdles. We present 4 new patients with SSS with largely unilateral, segmental distribution. To date, reported cases of SSS have been grouped based on generally accepted clinical and histopathologic findings. The purpose of this study was to analyze differences in clinical and histopathologic findings between previously reported SSS cases. This is a retrospective review of 4 new cases and 48 previously published cases of SSS obtained from PubMed search. Of 52 total cases, 18 (35%) were segmentally distributed and 34 (65%) were widespread. The average age of onset was 4.1 years versus 1.6 years for segmental versus widespread SSS, respectively. Limitation in joint mobility affected 44% of patients with segmental SSS and 97% of patients with widespread SSS. Histopathologic findings were common between the 2 groups. This was a retrospective study of previously published cases limited by the completeness and accuracy of the reviewed cases. We propose a distinct clinical entity, segmental SSS, characterized by a segmental distribution, later age of onset, and less severe functional limitation. Both segmental SSS and widespread SSS share common diagnostic histopathologic features. Copyright © 2016 American Academy of Dermatology, Inc. All rights reserved.

  10. Combination nucleoside/nucleotide reverse transcriptase inhibitors for treatment of HIV infection.

    PubMed

    Akanbi, Maxwell O; Scarsi, Kimberly K; Scarci, Kimberly; Taiwo, Babafemi; Murphy, Robert L

    2012-01-01

    The combination of two nucleoside/nucleotide reverse transcriptase inhibitors (N(t)RTIs) and a third agent from another antiretroviral class is currently recommended for initial antiretroviral therapy. In general, N(t)RTIs remain relevant in subsequent regimens. There are currently six nucleoside reverse transcriptase inhibitors and one nucleotide reverse transcriptase inhibitor drug entities available, and several formulations that include two or more N(t)RTIs in a fixed-dose combination. These entities have heterogeneous pharmacological and clinical properties. Accordingly, toxicity, pill burden, dosing frequency, potential drug-drug interaction, preexisting antiretroviral drug resistance and comorbid conditions should be considered when constructing a regimen. This approach is critical in order to optimize virologic efficacy and clinical outcomes. This article reviews N(t)RTI combinations used in the treatment of HIV-infected adults. The pharmacological properties of each N(t)RTI, and the clinical trials that have influenced treatment guidelines are discussed. It is likely that N(t)RTIs will continue to dominate the global landscape of HIV treatment and prevention, despite emerging interest in N(t)RTI-free combination therapy. Clinical domains where only few alternatives to N(t)RTIs exist include treatment of HIV/HBV coinfection and HIV-2. There is a need for novel N(t)RTIs with enhanced safety and resistance profiles compared with current N(t)RTIs.

  11. A case of anorexia nervosa in an elderly man.

    PubMed

    Malik, Fahd; Wijayatunga, Uditha; Bruxner, George M

    2014-06-01

    To explore aspects of anorexia nervosa occurring in older populations, especially men, by reviewing the literature and presenting a case study of an elderly man with unexplained vomiting and weight loss. The literature is reviewed and an illustrative case study of an elderly man with unexplained vomiting and weight loss is described. Anorexia nervosa is an uncommon cause of unexplained weight loss in the elderly, but may be under-recognized and associated with a high level of mortality. © The Royal Australian and New Zealand College of Psychiatrists 2014.

  12. Conservative management of severe serotonin syndrome with coma, myoclonus, and crossed-extensor reflex complicated by hepatic encephalopathy.

    PubMed

    Ramachandran, Vignesh; Ding, Belicia; George, Rollin; Novakovic, Matthew

    2018-01-01

    Serotonin syndrome (SS) is an underrecognized and potentially fatal disorder that occurs secondary to combinational use or overdose of a single serotonergic medication. The presentation may be complicated by hepatic encephalopathy in cirrhotic patients, which may also affect metabolism of these serotonergic agents. The authors report a rare case of severe SS complicated by hepatic encephalopathy secondary to cirrhosis in a 52-year-old woman after an increase in her home dosage of fluoxetine and addition of other psychiatric medications.

  13. Electrolyte imbalance and sleep problems during anti-retroviral therapy: an under-recognized problem.

    PubMed

    Manzar, Md Dilshad; Sony, Peter; Salahuddin, Mohammed; Kumalo, Abera; Geneto, Mathewos; Pandi-Perumal, Seithikurippu R; Moscovitch, Adam; BaHammam, Ahmed S

    2017-01-01

    Human immunodeficiency virus (HIV) infection, and the anti-retroviral therapy (ART) associated complications necessitate that the medical care system keeps evolving for proper management of this group of patients. Electrolyte imbalance and sleep problems are common in patients on ART. Both of these conditions are associated with increased morbidity (such as acute kidney injury, chronic kidney disease, low CD4 count, non-adherence and depression) and mortality. Therefore, screening for both sleep problems and electrolytes imbalance may help to decrease the risk of complications in patients on ART.

  14. Electrolyte imbalance and sleep problems during anti-retroviral therapy: an under-recognized problem

    PubMed Central

    Manzar, Md Dilshad; Sony, Peter; Salahuddin, Mohammed; Kumalo, Abera; Geneto, Mathewos; Pandi-Perumal, Seithikurippu R; Moscovitch, Adam; BaHammam, Ahmed S

    2017-01-01

    Human immunodeficiency virus (HIV) infection, and the anti-retroviral therapy (ART) associated complications necessitate that the medical care system keeps evolving for proper management of this group of patients. Electrolyte imbalance and sleep problems are common in patients on ART. Both of these conditions are associated with increased morbidity (such as acute kidney injury, chronic kidney disease, low CD4 count, non-adherence and depression) and mortality. Therefore, screening for both sleep problems and electrolytes imbalance may help to decrease the risk of complications in patients on ART. PMID:28966741

  15. Safeguarding the future of independent, academic clinical cancer research in Europe for the benefit of patients.

    PubMed

    Negrouk, Anastassia; Lacombe, Denis; Cardoso, Fatima; Morin, Franck; Carrasco, Eva; Maurel, Joan; Maibach, Rudolf; Aranda, Enrique; Marais, Richard; Stahel, Rolf A

    2017-01-01

    Cancer is a complex disease that is constantly evolving. It is now the most common cause of death in Europe after cardiovascular diseases. There are inequalities among European countries, potentially unsustainable healthcare systems impacting quality of cancer care and increasing number of patients with cancer with rare conditions. Clinical and translational research are the backbone in establishing scientific advances as novel treatments and advancing progress to the benefit of patients. Commercially sponsored clinical trials are responsible for developing new medicines that can treat various disease areas, including cancer. It is important to note, however, that these clinical trials only assess the viability of compounds that are chosen by a commercial entity that funds the entire process. By their design and focus, these trials need to fulfil commercial interests and market expectations, which do not always coincide with patients' needs. As soon or even before novel treatments and compounds obtain formal market authorisation, academia will take these existing and new medicines to further conduct research in order to optimise their use, develop new combinations and with a strong focus on the patients and their needs. Established standard of care most commonly relies on clinical cancer research stemming from non-commercial entities, cooperative groups or academic clinical research. This article provides a consensus on the definition of academic research, illustrates its added value and suggests and calls to European Union institutions to support this type of research for the benefit of patients.

  16. [Clinical manifestations of organizing pneumonia].

    PubMed

    Hunter, Martín; Ludueña, Ana; Telias, Irene; Aruj, Patricia; Rausch, Silvia; Suárez, Juan Pablo

    Organizing pneumonia is a clinical entity asociated with nonspecific symptoms and radiological findings and abnormalities in pulmonary function tests. It is defined by the characteristic histopathological pattern: filling of alveoli and respiratory bronchioles by plugs of granulation tissue. It can be idiopathic (COP) or secondary to other causes (SOP). It is an unusual finding and the clinical and radiographic findings are nonspecific. For specific diagnosis an invasive procedure has to be done, but often empirical treatment is started when there's a clinical suspicion. We describe the clinical characteristics of 13 patients with histological diagnosis of organizing pneumonia. Data was obtained from their medical records. The median age was 76 years and the median time to diagnosis from the onset of symptoms was 31 days. In 10 cases the diagnosis was made by transbronchial biopsy. 8 patients required hospitalization, 4 of them received high doses of steroids and 3 required ventilatory support. One patient died from a cause attributable to this entity and 5 relapsed. Dyspnea, cough and fever were the most frequent symptoms. Most patients had more than one tomographic pattern being the most common ground glass opacities and alveolar consolidation. Nine patients were diagnosed with COP and 4 with SOP. The most frequent underlying cause of SOP was drug toxicity. The clinical characteristics of the reported cases are consistent with previously published series. As an interesting feature, there was a group of patients that needed high doses of steroids and ventilatory support.

  17. Clinical and Radiological Profile of Acute Fibrinous and Organizing Pneumonia: A Retrospective Study.

    PubMed

    Dai, Jing-Hong; Li, Hui; Shen, Wei; Miao, Li-Yun; Xiao, Yong-Long; Huang, Mei; Cao, Meng-Shu; Wang, Yang; Zhu, Bin; Meng, Fan-Qing; Cai, Hou-Rong

    2015-10-20

    Acute fibrinous and organizing pneumonia (AFOP) is a unique pathological entity with intra-alveolar fibrin in the form of "fibrin balls" and organizing pneumonia. It was divided into rare idiopathic interstitial pneumonia according to the classification notified by American Thoracic Society/European Respiratory Society in 2013. As a rare pathological entity, it is still not well known and recognized by clinicians. We reviewed the clinical features of 20 patients with AFOP diagnosed in a teaching hospital. The medical records of 20 patients with biopsy-proven diagnosis of AFOP were retrospectively reviewed. The patients' symptoms, duration of the disease, comorbidities, clinical laboratory data, pulmonary function testing, radiographic studies, and the response to treatment were extracted and analyzed. Fever was the most common symptom and was manifested in 90% of AFOP patients. For clinical laboratory findings, systematic inflammatory indicators, including C-reactive protein and erythrocyte sedimentation rate, were significantly higher than normal in AFOP patients. In accordance with this increased indicators, injured liver functions were common in AFOP patients. Inversely, AFOP patients had worse clinical conditions including anemia and hypoalbuminemia. For pulmonary function testing, AFOP patients showed the pattern of restrictive mixed with obstructive ventilation dysfunction. For high-resolution computerized tomography (HRCT) findings, the most common pattern for AFOP patients was lobar consolidation which was very similar to pneumonia. However, unlike pneumonia, AFOP patients responded well to glucocorticoids. Patients with AFOP manifest as acute inflammatory-like clinical laboratory parameters and lobar consolidation on HRCT, but respond well to steroid.

  18. Subacute Sclerosing Panencephalitis of the Brainstem as a Clinical Entity

    PubMed Central

    Yang, Jason; Ciacci, Joseph D.

    2017-01-01

    Subacute sclerosing panencephalitis (SSPE) is a rare progressive neurological disorder of early adolescence caused by persistent infection of the measles virus, which remains prevalent worldwide despite an effective vaccine. SSPE is a devastating disease with a characteristic clinical course in subcortical white matter; however, atypical presentations of brainstem involvement may be seen in rare cases. This review summarizes reports to date on brainstem involvement in SSPE, including the clinical course of disease, neuroimaging presentations, and guidelines for treatment. A comprehensive literature search was performed for English-language publications with keywords “subacute sclerosing panencephalitis” and “brainstem” using the National Library of Medicine PubMed database (March 1981–September 2017). Eleven articles focusing on SSPE of the brainstem were included. Predominant brainstem involvement remains uncharacteristic of SSPE, which may lead to misdiagnosis and poor outcome. A number of case reports have demonstrated brainstem involvement associated with other intracranial lesions commonly presenting in later SSPE stages (III and IV). However, brainstem lesions can appear in all stages, independent of higher cortical structures. The varied clinical presentations complicate diagnosis from a neuroimaging perspective. SSPE of the brainstem is a rare but important clinical entity. It may present like canonical SSPE or with unique clinical features such as absence seizures and pronounced ataxia. While SSPE generally progresses to the brainstem, it can also begin with a primary focus of infection in the brainstem. Awareness of varied SSPE presentations can aid in early diagnosis as well as guide management and treatment. PMID:29112137

  19. Subacute Sclerosing Panencephalitis of the Brainstem as a Clinical Entity.

    PubMed

    Upadhyayula, Pavan S; Yang, Jason; Yue, John K; Ciacci, Joseph D

    2017-11-07

    Subacute sclerosing panencephalitis (SSPE) is a rare progressive neurological disorder of early adolescence caused by persistent infection of the measles virus, which remains prevalent worldwide despite an effective vaccine. SSPE is a devastating disease with a characteristic clinical course in subcortical white matter; however, atypical presentations of brainstem involvement may be seen in rare cases. This review summarizes reports to date on brainstem involvement in SSPE, including the clinical course of disease, neuroimaging presentations, and guidelines for treatment. A comprehensive literature search was performed for English-language publications with keywords "subacute sclerosing panencephalitis" and "brainstem" using the National Library of Medicine PubMed database (March 1981-September 2017). Eleven articles focusing on SSPE of the brainstem were included. Predominant brainstem involvement remains uncharacteristic of SSPE, which may lead to misdiagnosis and poor outcome. A number of case reports have demonstrated brainstem involvement associated with other intracranial lesions commonly presenting in later SSPE stages (III and IV). However, brainstem lesions can appear in all stages, independent of higher cortical structures. The varied clinical presentations complicate diagnosis from a neuroimaging perspective. SSPE of the brainstem is a rare but important clinical entity. It may present like canonical SSPE or with unique clinical features such as absence seizures and pronounced ataxia. While SSPE generally progresses to the brainstem, it can also begin with a primary focus of infection in the brainstem. Awareness of varied SSPE presentations can aid in early diagnosis as well as guide management and treatment.

  20. Dilated cardiomyopathy with short QT interval: is it a new clinical entity?

    PubMed

    Bohora, Shomu; Namboodiri, Narayanan; Tharakan, Jaganmohan; Vk, Ajit Kumara; Nayyar, Sachin

    2009-05-01

    Short QT syndrome is a rare autosomal dominant channelopathy of structurally normal hearts characterized by atrial fibrillation, ventricular arrhythmias, and sudden cardiac death. We report a case having short QT, dilated ventricles, and severe ventricular dysfunction, an unreported association so far.

  1. A Psychoeducational Approach in the Treatment of Anorexia Nervosa.

    ERIC Educational Resources Information Center

    Cotugno, Albert J.

    1980-01-01

    Anorexia nervosa exists as a clinical entity with significant ego disturbances which appear as primary features. Noneating and accompanying weight loss are often secondary features of the disturbance. The psychoeducational approach is most valuable because it integrates the psychological view with educational goals. (Author)

  2. Selected aspects of polycystic ovarian disease.

    PubMed

    Goldzieher, J W; Young, R L

    1992-03-01

    Although there is general agreement about the polycystic ovary as an anatomic entity, a classic description of an associated syndrome remains elusive. This lack of definition, however, has not impeded clinical investigation. This article focuses on the diagnosis, pathogenesis, hypotheses, and treatment of polycystic ovarian disease.

  3. Father-son incest: underreported psychiatric problem?

    PubMed

    Dixon, K N; Arnold, L E; Calestro, K

    1978-07-01

    Six families are described in which 10 sons were involved incestuously with a natural father (N=4) or step-father (N=2). Father-son incest as a part of the spectrum of child abuse appears to be a more frequent clinical entity than was thought previously.

  4. Malunion after midshaft clavicle fractures in adults

    PubMed Central

    Burger, Bart J; Pöll, Rudolf G; de Gast, Arthur; Robinson, C Michael

    2010-01-01

    This is an overview of the current literature on malunion after midshaft clavicle fracture. Anatomy, trauma mechanism, classification, incidence, symptoms, prevention, and treatment options are all discussed. The conclusion is that clavicle malunion is a distinct clinical entity that can be treated successfully. PMID:20367423

  5. Online Counseling: New Entity, New Challenges

    ERIC Educational Resources Information Center

    Barnett, Jeffrey E.

    2005-01-01

    Mallen, Vogel, and colleagues explore the developing field of online counseling from the unique perspective of counseling psychology. They examine the body of available research and relevant clinical, ethical, legal, and practical issues and make recommendations for counseling psychologists who desire to participate in online counseling. This…

  6. Triple confusion: An interesting case of proteinuria in pregnancy.

    PubMed

    Guru, Pramod K; Ramaeker, Devon M; Jeybalan, Arundhathi; Shah, Nirav A; Bastacky, Sheldon; Liang, Kelly V

    2016-01-01

    Pregnancy-related renal diseases are unique and need special attention, both for diagnosis and management. The major confounding factors for diagnosis are the physiological multiorgan changes that occur throughout the gestational period. Proper diagnosis of the renal disease is also important, given the impact of varied management options both on the maternal and fetal health. A young middle-aged female with a long-standing history of diabetes presented to the hospital with worsening proteinuria in her second trimester of pregnancy. Clinical history, examinations, and laboratory analysis did not give any clues for diagnosis of a specific disease entity. This led us to take the risk of renal biopsy for a tissue diagnosis. The odds of renal biopsy favored the management decision in her case, thereby avoiding the confusions prior to biopsy. The pathological diagnosis is a surprise though not a unique entity on its own (minimal change disease in pregnancy). The case illustrates the disparity of clinical presentations and the pathology in patients, and the importance of renal biopsy in pregnant patients in particular.

  7. [Determination of antibodies against Borrelia burgdorferi in patients with morphea, lichen sclerosus et atrophicus and erythema chronicum migrans].

    PubMed

    Pinazo Canales, I; Betlloch Mas, I; Mestre Bauza, F; Salva Armengod, F; Parras Vázquez, F; Alomar Cardell, J

    1990-04-01

    Several cutaneous entities described in Europe as Chronic Migrans Erythema (CME), Mild Cutis Lymphadenosis (MCL) and Chronic Atrophyc Acrodermatitis (CAA) constitute clinical manifestations of a Borrellia Burgdorferi. The presence of clinical and hystologic lesions similar to those of liquen esclerosus and atrophyc (LEA) and localized esclerodermia (morphea) in patients with CAA has driven to several authors to demonstrate the aethiologic participation of B. Burgdorferi in patients carrying those cutaneous lesions with contradictory results. A serologic study with indirect immunofluorescence (IIF) and FIAX test was performed in 16 patients (9 with morphea, 6 with LEA and 1 with CME) in order to evaluate the role of this microorganism in our environment. Five reactive sera were obtained of which only one presented IgG antibodies titrated at 1/256. The IgM antibodies by IIF and IgG by FIAX test turned out to be negative. A specific relationship between B. Burgdorferi and the studied entities could not be established.

  8. Stabbing Yourself in the Heart: A Case of Autoimmunity Gone Awry

    PubMed Central

    Vigneswaran, Hari; Parikh, Leslie; Poppas, Athena

    2015-01-01

    Within internal medicine, cardiac and neurologic pathology comprises a vast majority of patient complaints. Physicians and advanced-care practitioners must be highly educated and comfortable in the evaluation, diagnosis, and management of these entities. Chest pain accounts for millions of annual visits to the emergency room with pericarditis diagnosed in approximately four percent of patients with nonischemic chest pain. Guillain-Barre Syndrome is autoimmune polyneuropathy that often results in transient paralysis. Simultaneous diagnosis of both entities is a rare but described phenomenon. Here, we present a clinical case of GBS associated pericarditis. A fifty-five-year-old man with history of renal transplant presented with lower extremity weakness and urinary incontinence. Physical exam and diagnostic studies confirmed Guillain-Barre Syndrome. Patient subsequently developed stabbing chest pain with clinical presentation and electrocardiogram consistent with pericarditis. The patient was successfully treated for both diseases. This case highlights that although infrequent, internal medicine care providers must be cognizant of this correlation to ensure timely diagnosis and treatment. PMID:26664359

  9. Acute bacterial skin and skin structure infections in internal medicine wards: old and new drugs.

    PubMed

    Falcone, Marco; Concia, Ercole; Giusti, Massimo; Mazzone, Antonino; Santini, Claudio; Stefani, Stefania; Violi, Francesco

    2016-08-01

    Skin and soft tissue infections (SSTIs) are a common cause of hospital admission among elderly patients, and traditionally have been divided into complicated and uncomplicated SSTIs. In 2010, the FDA provided a new classification of these infections, and a new category of disease, named acute bacterial skin and skin structure infections (ABSSSIs), has been proposed as an independent clinical entity. ABSSSIs include three entities: cellulitis and erysipelas, wound infections, and major cutaneous abscesses This paper revises the epidemiology of SSTIs and ABSSSIs with regard to etiologies, diagnostic techniques, and clinical presentation in the hospital settings. Particular attention is owed to frail patients with multiple comorbidities and underlying significant disease states, hospitalized on internal medicine wards or residing in nursing homes, who appear to be at increased risk of infection due to multi-drug resistant pathogens and treatment failures. Management of ABSSSIs and SSTIs, including evaluation of the hemodynamic state, surgical intervention and treatment with appropriate antibiotic therapy are extensively discussed.

  10. Adipose Tissue in Metabolic Syndrome: Onset and Progression of Atherosclerosis.

    PubMed

    Luna-Luna, María; Medina-Urrutia, Aida; Vargas-Alarcón, Gilberto; Coss-Rovirosa, Fernanda; Vargas-Barrón, Jesús; Pérez-Méndez, Óscar

    2015-07-01

    Metabolic syndrome (MetS) should be considered a clinical entity when its different symptoms share a common etiology: obesity/insulin resistance as a result of a multi-organ dysfunction. The main interest in treating MetS as a clinical entity is that the addition of its components drastically increases the risk of atherosclerosis. In MetS, the adipose tissue plays a central role along with an unbalanced gut microbiome, which has become relevant in recent years. Once visceral adipose tissue (VAT) increases, dyslipidemia and endothelial dysfunction follow as additive risk factors. However, when the nonalcoholic fatty liver is present, risk of a cardiovascular event is highly augmented. Epicardial adipose tissue (EAT) seems to increase simultaneously with the VAT. In this context, the former may play a more important role in the development of the atherosclerotic plaque than the latter. Hence, EAT may act as a paracrine tissue vis-à-vis the coronary arteries favoring the local inflammation and the atheroma calcification. Copyright © 2015 IMSS. Published by Elsevier Inc. All rights reserved.

  11. SAPHO Syndrome – A Pictorial Assay

    PubMed Central

    Khanna, Lokesh; El-khoury, Georges Y.

    2012-01-01

    SAPHO (synovitis, acne, pustulosis, hyperostosis and osteitis) syndrome is a distinct clinical entity representing involvement of the musculoskeletal and dermatologic systems. It is well known to rheumatologists because of characteristic skin manifestations and polyarthropathy. However, few reports exist in the orthopaedic literature. It is important to be aware of sAPHO syndrome as it can mimic some of the more common disease entities such as infection, tumor, and other inflammatory arthropathies. Anterior chest wall pain centered at sternoclavicular and sternocostal joints is an important and characteristic clinical finding which can point to its diagnosis. A patient may undergo different diagnostic tests and invasive procedures such as biopsies before a diagnosis is made. Imaging can be helpful by offering a detailed evaluation of the abnormalities. More importantly it helps in revealing subclinical foci of involvement due to the polyostotic nature of the disease. The treatment is mostly nonsurgical. NSAIDS are the first line agents. However multiple new agents are being used for refractory cases. Surgery is reserved to treat complications. PMID:23576940

  12. Consensus document. Management of non-alcoholic fatty liver disease (NAFLD). Clinical practice guideline.

    PubMed

    Aller, Rocío; Fernández-Rodríguez, Conrado; Lo Iacono, Oreste; Bañares, Rafael; Abad, Javier; Carrión, José Antonio; García-Monzón, Carmelo; Caballería, Joan; Berenguer, Marina; Rodríguez-Perálvarez, Manuel; Miranda, José López; Vilar-Gómez, Eduardo; Crespo, Javier; García-Cortés, Miren; Reig, María; Navarro, José María; Gallego, Rocío; Genescà, Joan; Arias-Loste, María Teresa; Pareja, María Jesús; Albillos, Agustín; Muntané, Jordi; Jorquera, Francisco; Solà, Elsa; Hernández-Guerra, Manuel; Rojo, Miguel Ángel; Salmerón, Javier; Caballería, Llorenc; Diago, Moisés; Molina, Esther; Bataller, Ramón; Romero-Gómez, Manuel

    2018-05-01

    Non-alcoholic fatty liver disease (NAFLD) is the main cause of liver diseases in Spain and the incidence is raising due to the outbreak of type 2 diabetes and obesity. This CPG suggests recommendation about diagnosis, mainly non-invasive biomarkers, and clinical management of this entity. Life-style modifications to achieve weight loss is the main target in the management of NAFLD. Low caloric Mediterranean diet and 200 minutes/week of aerobic exercise are encouraged. In non-responders patients with morbid obesity, bariatric surgery or metabolic endoscopy could be indicated. Pharmacological therapy is indicated in patients with NASH and fibrosis and non-responders to weight loss measures. NAFLD could influence liver transplantation, as a growing indication, the impact of steatosis in the graft viability, de novo NAFLD rate after OLT and a raised cardiovascular risk that modify the management of this entity. The current CPG was the result of the First Spanish NAFLD meeting in Seville. Copyright © 2018 Elsevier España, S.L.U. All rights reserved.

  13. Self-reported cue-induced physical symptoms of craving as an indicator of cocaine dependence.

    PubMed

    Vorspan, Florence; Fortias, Maeva; Zerdazi, El-Hadi; Karsinti, Emily; Bloch, Vanessa; Lépine, Jean-Pierre; Bellivier, Frank; Brousse, Georges; van den Brink, Wim; Derks, Eske M

    2015-12-01

    The presence of cocaine dependence is under-recognized by cocaine users and requires a careful standardized interview to be ascertained by clinicians. To test if past experiences of cue-induced physical symptoms of craving (nausea, vomiting, sweating, shaking, nervousness) before cocaine use could be a useful way to boost the diagnosis of cocaine dependence. A cross-sectional study of 221 cocaine users from several outpatient addiction treatment services in France, addressing the most severe period of cocaine use. DSM-IV cocaine dependence was determined with the MINI International Neuropsychiatric Interview (MINI). Physical symptoms before using cocaine were retrospectively assessed with a single item rated on a 0-5 scale. The prevalence of DSM-IV cocaine dependence was 84.6%. The mean score on the physical symptoms item was 1.3 (SD 1.3). A cut-off score of ≥ 1 on this item alone resulted in a sensitivity of 62%, a specificity of 88.2%, a positive predictive value of 96.6% and a negative predictive value of 29.7% to detect DSM IV cocaine dependence in this sample. Adding this item to a model with the frequency of cocaine use significantly increased the predictive power: Nagelkerke's R(2) increased from .149 to .326 (p < .001). Recalling past experiences of cue-induced physical signs of cocaine craving is associated with a clinical diagnosis of lifetime cocaine dependence and could be a simple way to improve its detection in clinical settings. © American Academy of Addiction Psychiatry.

  14. [Paraneoplastic syndromes in rheumatology].

    PubMed

    Schmalzing, Marc

    2018-05-01

    Rheumatic paraneoplastic syndromes are paraneoplastic arthritis, palmar fasciitis and polyarthritis syndrome, remitting seronegative symmetrical synovitis with pitting edema, pancreatic panniculitis with polyarthritis, paraneoplastic vasculitis, cancer-associated myositis, hypertrophic osteoarthropathy (Marie-Bamberger disease) and tumor-induced osteomalacia. Typical clinical manifestations, pathogenesis, prognosis, and treatment of this entity are presented. Knowledge of these disease entities can lead to timely diagnosis of the underlying malignant disease and to a higher probability of a cure. Response of the paraneoplastic inflammatory manifestations to corticosteroids, non-steroidal anti-inflammatory drugs or immunosuppressants is often insufficient. Curative removal of the malignant disease is crucial for the course of the paraneoplastic syndrome. When a paraneoplastic etiology of rheumatic symptoms is suspected, a step-wise diagnostic strategy is advisable.

  15. Product Development and Commercialization of Diagnostic or Life Science Products for Scientists and Researchers.

    PubMed

    Alonso, Meghan M

    2017-01-01

    Commercializing a diagnostic or life science product often encompasses different goals than that of research and grant funding. There are several necessary steps, and a strategy needs to be well defined in order to be successful. Product development requires input from and between various groups within a company and, for academia, outside entities. The product development stakeholder groups/entities are research, marketing, development, regulatory, manufacturing, clinical, safety/efficacy, and quality. After initial research and development, much of the work in product development can be outsourced or jointly created using public-private partnerships. This chapter serves as an overview of the product development process and provides a guide to best define a product strategy.

  16. Phacomatosis pigmentokeratotica: another epidermal nevus syndrome and a distinctive type of twin spotting.

    PubMed

    Boente, M C; Pizzi de Parra, N; Larralde de Luna, M; Bonet, H B; Santos Muñoz, A; Parra, V; Gramajo, P; Moreno, S; Asial, R A

    2000-01-01

    The name epidermal nevus syndrome could be applied to a group of clinically and histopathologically different entities as has been pointed out by Happle. Phacomatosis pigmentokeratotica is a further type of epidermal nevus syndrome distinguished by the presence of a sebaceous nevus and a contralateral speckled lentiginous nevus of the papular type, associated with skeletal or neurological abnormalities. Three new cases of this recently delineated syndrome are presented. A common origin may account for the temporal and spatial relationship between the epidermal and the speckled lentiginous nevus. The concept of melanocytic-epidermal twin spotting similar to the interpretation of vascular twin spotting could explain the pathogenesis of this entity.

  17. HANNIBAL REVISITED: ANTISOCIAL PERSONALITY DISORDER VERSUS PSYCHOPATHY--MEDICO-LEGAL PERSPECTIVES FROM SOUTH AFRICA.

    PubMed

    Stevens, Philip

    2014-07-01

    Psychopathy and its relation to criminal behaviour has been the focus of clinical research for many years. Within the context of South African criminal law, the impact of psychopathy on criminal liability has been addressed in numerous decisions with varying outcomes all indicative of the reality that psychopathy will at most serve as a factor in mitigation of sentence, but will not exonerate an accused of criminal responsibility. In this contribution, the author reflects on the diagnostic entities of psychopathy and antisocial personality disorder against the backdrop of South African criminal law cases in terms of which either of these entities were raised in support of mitigation of sentence and/or as extenuating circumstances.

  18. Clinical phenotype network: the underlying mechanism for personalized diagnosis and treatment of traditional Chinese medicine.

    PubMed

    Zhou, Xuezhong; Li, Yubing; Peng, Yonghong; Hu, Jingqing; Zhang, Runshun; He, Liyun; Wang, Yinghui; Jiang, Lijie; Yan, Shiyan; Li, Peng; Xie, Qi; Liu, Baoyan

    2014-09-01

    Traditional Chinese medicine (TCM) investigates the clinical diagnosis and treatment regularities in a typical schema of personalized medicine, which means that individualized patients with same diseases would obtain distinct diagnosis and optimal treatment from different TCM physicians. This principle has been recognized and adhered by TCM clinical practitioners for thousands of years. However, the underlying mechanisms of TCM personalized medicine are not fully investigated so far and remained unknown. This paper discusses framework of TCM personalized medicine in classic literatures and in real-world clinical settings, and investigates the underlying mechanisms of TCM personalized medicine from the perspectives of network medicine. Based on 246 well-designed outpatient records on insomnia, by evaluating the personal biases of manifestation observation and preferences of herb prescriptions, we noted significant similarities between each herb prescriptions and symptom similarities between each encounters. To investigate the underlying mechanisms of TCM personalized medicine, we constructed a clinical phenotype network (CPN), in which the clinical phenotype entities like symptoms and diagnoses are presented as nodes and the correlation between these entities as links. This CPN is used to investigate the promiscuous boundary of syndromes and the co-occurrence of symptoms. The small-world topological characteristics are noted in the CPN with high clustering structures, which provide insight on the rationality of TCM personalized diagnosis and treatment. The investigation on this network would help us to gain understanding on the underlying mechanism of TCM personalized medicine and would propose a new perspective for the refinement of the TCM individualized clinical skills.

  19. The Influence of Setting on Care Coordination for Childhood Asthma.

    PubMed

    Kelly, R Patrick; Stoll, Shelley C; Bryant-Stephens, Tyra; Janevic, Mary R; Lara, Marielena; Ohadike, Yvonne U; Persky, Victoria; Ramos-Valencia, Gilberto; Uyeda, Kimberly; Malveaux, Floyd J

    2015-11-01

    Asthma affects 7.1 million children in the United States, disproportionately burdening African American and Latino children. Barriers to asthma control include insufficient patient education and fragmented care. Care coordination represents a compelling approach to improve quality of care and address disparities in asthma. The sites of The Merck Childhood Asthma Network Care Coordination Programs implemented different models of care coordination to suit specific settings-school district, clinic or health care system, and community-and organizational structures. A variety of qualitative data sources were analyzed to determine the role setting played in the manifestation of care coordination at each site. There were inherent strengths and challenges of implementing care coordination in each of the settings, and each site used unique strategies to deliver their programs. The relationship between the lead implementing unit and entities that provided (1) access to the priority population and (2) clinical services to program participants played a critical role in the structure of the programs. The level of support and infrastructure provided by these entities to the lead implementing unit influenced how participants were identified and how asthma care coordinators were integrated into the clinical care team. © 2015 Society for Public Health Education.

  20. The Influence of Setting on Care Coordination for Childhood Asthma

    PubMed Central

    Kelly, R. Patrick; Stoll, Shelley C.; Bryant-Stephens, Tyra; Janevic, Mary R.; Lara, Marielena; Ohadike, Yvonne U.; Persky, Victoria; Ramos-Valencia, Gilberto; Uyeda, Kimberly; Malveaux, Floyd J.

    2015-01-01

    Asthma affects 7.1 million children in the United States, disproportionately burdening African American and Latino children. Barriers to asthma control include insufficient patient education and fragmented care. Care coordination represents a compelling approach to improve quality of care and address disparities in asthma. The sites of The Merck Childhood Asthma Network Care Coordination Programs implemented different models of care coordination to suit specific settings—school district, clinic or health care system, and community—and organizational structures. A variety of qualitative data sources were analyzed to determine the role setting played in the manifestation of care coordination at each site. There were inherent strengths and challenges of implementing care coordination in each of the settings, and each site used unique strategies to deliver their programs. The relationship between the lead implementing unit and entities that provided (1) access to the priority population and (2) clinical services to program participants played a critical role in the structure of the programs. The level of support and infrastructure provided by these entities to the lead implementing unit influenced how participants were identified and how asthma care coordinators were integrated into the clinical care team. PMID:26232778

  1. Management of patients with rectus sheath hematoma: Personal experience.

    PubMed

    Buffone, Antonino; Basile, Guido; Costanzo, Mario; Veroux, Massimiliano; Terranova, Lorenza; Basile, Antonio; Okatyeva, Valeriya; Cannizzaro, Maria Teresa

    2015-07-01

    Rectus sheath hematoma (RSH) is a rare clinical entity. It can be mistaken for other intra-abdominal disorders, which can result in diagnostic and therapeutic difficulties. This study was undertaken to analyze the clinical presentation, diagnostic modalities, and management of patients affected with RSH. Between January 2008 and June 2011, eight patients (5 men and 3 women with a mean age of 53 years) with RSH were evaluated according to demographic characteristics, clinical and radiological findings, and methods of treatment. Six patients developed RSH after anticoagulant therapy; one after local trauma, and one after laparoscopic intervention. Six patients were treated nonsurgically; one patient underwent embolization of the inferior epigastric artery and one underwent ligation of the bleeding vessel. The average hospital stay was 6 days. There were no mortality or thromboembolic complications. RSH is a rare nonneoplastic entity that is usually associated with abdominal trauma and/or anticoagulant therapy. The gold standard for diagnosis is computed tomography, and ultrasonography can be used in follow-up. The treatment of choice is nonsurgical therapy because RSH is a self-limited condition. Surgical intervention should be reserved for cases with hemodynamic instability. Copyright © 2013. Published by Elsevier B.V.

  2. Follicular vitiligo: A report of 8 cases.

    PubMed

    Gan, Emily Yiping; Cario-André, Muriel; Pain, Catherine; Goussot, Jean-Francois; Taïeb, Alain; Seneschal, Julien; Ezzedine, Khaled

    2016-06-01

    Follicular vitiligo, a recently proposed new subtype of vitiligo, has primary involvement of the hair follicle melanocytic reservoir. We sought to characterize follicular vitiligo through a case series of 8 patients. Patients with features of follicular vitiligo who were seen at the vitiligo clinic in the National Center for Rare Skin Disorders in Bordeaux, France, were recruited. A retrospective review of case records and clinical photographs was carried out. There were 8 male patients with a mean age of 48 years. All patients reported significant whitening of their body and, in some, scalp hairs before cutaneous depigmentation. Examination revealed classic generalized depigmented lesions of vitiligo and an impressive presence of leukotrichia, not only in the vitiliginous areas, but also in areas with clinically normal-appearing skin. Punch biopsy specimen of the leukotrichia and vitiligo lesions demonstrated loss of melanocytes and precursors in the basal epidermis and hair follicle. This was a cross-sectional study based on a single-center experience. Follicular vitiligo is a distinct entity within the spectrum of vitiligo. This entity may serve as the missing link between alopecia areata and vitiligo, with probable physiopathological similarities between these conditions. Copyright © 2016 American Academy of Dermatology, Inc. Published by Elsevier Inc. All rights reserved.

  3. How I treat smoldering multiple myeloma

    PubMed Central

    Landgren, Ola

    2014-01-01

    Smoldering myeloma is a heterogeneous clinical entity where a subset of patients has an indolent course of disease that mimics monoclonal gammopathy of undermined significance, whereas others have a more aggressive course that has been described as “early myeloma.” It is defined as either serum M-protein ≥3 g/L or ≥10% monoclonal plasma cells in the bone marrow. There are currently no molecular factors to differentiate risks of progression for these patients. Current recommendations of therapy continue to be patient observation or patient enrollment in clinical trials. However, new definitions of active multiple myeloma recently agreed upon by the International Myeloma Working Group may alter the timing of therapy. On the basis of emerging data of therapy in these patients, it seems reasonable to believe that future recommendations for therapy of patients with smoldering myeloma will become an increasingly important topic. In this article, we review the current knowledge of this disease and risk factors associated with progression. We also examine biological insights and alterations that occur in the tumor clone and the surrounding bone marrow niche. Finally, we review clinical trials that have been performed in these patients and provide recommendations for follow-up of patients with this unique disease entity. PMID:25298034

  4. [Gastric adenomyoma clinically simulating hypertrophic pyloric stenosis].

    PubMed

    Sánchez García, S; Rubio Solís, D; Anes González, G; González Sánchez, S

    2016-01-01

    Gastric adenomyomas are extremely uncommon benign tumors in children. On histologic examination, these tumors have an epithelial component similar to pancreatic ducts. We present a case of a pyloric adenomyoma that clinically simulated hypertrophic pyloric stenosis in a newborn girl. Imaging tests, fundamentally magnetic resonance imaging, were very important in the characterization and diagnosis of this entity. Copyright © 2016 SERAM. Published by Elsevier España, S.L.U. All rights reserved.

  5. Rocky Mountain spotted fever: 'starry sky' appearance with diffusion-weighted imaging in a child.

    PubMed

    Crapp, Seth; Harrar, Dana; Strother, Megan; Wushensky, Curtis; Pruthi, Sumit

    2012-04-01

    We present a case of Rocky Mountain spotted fever encephalitis in a child imaged utilizing diffusion-weighted MRI. Although the imaging and clinical manifestations of this entity have been previously described, a review of the literature did not reveal any such cases reported in children utilizing diffusion-weighted imaging. The imaging findings and clinical history are presented as well as a brief review of this disease.

  6. Stuttering priapism associated with hereditary spherocytosis.

    PubMed

    Prabhakaran, Karti; Jacobs, Bruce L; Smaldone, Marc C; Franks, Michael E

    2007-10-01

    Stuttering priapism is a clinical phenomenon that occurs commonly in certain patient populations, including sickle cell anemia and other hematologic dyscrasias. Although the mechanism is still not completely understood, treatment is focused on prevention of recurrence in the outpatient setting, and immediate detumescence and minimizing corporal fibrosis in the acute setting. We present a case of stuttering priapism in a 44 year-old male with hereditary spherocytosis and discuss the pathophysiology and clinical management of this entity.

  7. A rare case of mycetoma due to curvularia.

    PubMed

    Shinde, Rupali S; Hanumantha, Sreedevi; Mantur, Basappa G; Parande, Mahantesh V

    2015-01-01

    Mycetoma due to Curvularia is a rare clinical entity. Here, we report a case of 27-year-old female presented with multiple swellings and discharging wounds around left shoulder joint since 12 years. Local examination showed diffuse nodular swellings over left anterior chest wall, posterior chest wall, and axilla. Multiple nodules and discharging sinuses were seen. Fungal culture of the biopsy of the lesion revealed Curvularia species. Patient showed significant clinical improvement with itraconazole therapy.

  8. The value of laparoscopy in acute pelvic pain.

    PubMed Central

    Anteby, S O; Schenker, J G; Polishuk, W Z

    1975-01-01

    Laparoscopy was performed in 223 patients with acute pelvic pain but without a definite diagnosis. The clinically suspected diagnosis was confirmed by laparoscopy in only 57 patients (25%). Laparotomy was thus avoided in 145 patients (65%). The endoscopic findings in the three clinical entities included here are presented: tubal pregnancy, acute appendicitis or torsion of adnexal mass. This study emphasizes the poor correlation between the clinical diagnosis based on history, pelvic examination and physical signs, and the final laparoscopic findings. The value of laparoscopy in evaluation of acute pelvic disease is stressed. PMID:124158

  9. Targeting oncogenic vulnerabilities in triple negative breast cancer: biological bases and ongoing clinical studies

    PubMed Central

    Ocana, Alberto; Pandiella, Atanasio

    2017-01-01

    Triple negative breast cancer (TNBC) is still an incurable disease despite the great scientific effort performed during the last years. The huge heterogeneity of this disease has motivated the evaluation of a great number of therapies against different molecular alterations. In this article, we review the biological bases of this entity and how the known molecular evidence supports the current preclinical and clinical development of new therapies. Special attention will be given to ongoing clinical studies and potential options for future drug combinations. PMID:28108739

  10. Recognition of Delirium Features in Clinical Practice: Data from the "Delirium Day 2015" National Survey.

    PubMed

    Mossello, Enrico; Tesi, Francesca; Di Santo, Simona G; Mazzone, Andrea; Torrini, Monica; Cherubini, Antonio; Bo, Mario; Musicco, Massimo; Bianchetti, Angelo; Ferrari, Alberto; Ferrara, Nicola; Trabucchi, Marco; Morandi, Alessandro; Bellelli, Giuseppe

    2018-02-01

    Delirium is underrecognized in clinical practice. The primary aim of the present multicenter study was to compare the ability of nurses to identify delirium features with a standardized assessment. The secondary aim was to identify predictors of missed or incorrect identifications of delirium by nurses. Point prevalence study in 120 wards across Italy. "Delirium Day 2015." Inpatients aged 65 and older (N = 1,867). Participants and nurses were asked specific questions to investigate their perceptions of the presence of delirium features (acute cognitive change, inattention, cognitive fluctuations, impaired arousal). Delirium was identified according to the results of the Assessment Test for Delirium and Cognitive Impairment (4AT), completed by a physician. Comorbidities including dementia, disability, drug treatments, and delirium motor subtype according to the Delirium Motor Subtype Scale were recorded. Delirium was present in 429 subjects (23%) according to the 4AT. Cognitive fluctuations was the delirium feature that the nurses most often recognized. Nurses' perceptions of acute cognitive change, cognitive fluctuations, or impaired arousal had 84% sensitivity and 81% specificity for delirium. The nonmotor subtype of delirium was less likely to be recognized (80%) than the hyperactive (97%), mixed (92%), and hypoactive (90%) subtypes. Incorrect perception of delirium was more frequent in subjects with dementia (specificity 64%). The delirium feature that nurses were best able to recognize was cognitive fluctuations. The nonmotor subtype was associated with a lower recognition rate. Routine observation and registration of delirium features by nurses in clinical practice might be helpful to increase formal diagnosis of delirium. © 2017, Copyright the Authors Journal compilation © 2017, The American Geriatrics Society.

  11. Histophilosis as a Natural Disease.

    PubMed

    O'Toole, D; Sondgeroth, K S

    2016-01-01

    Histophilus somni is responsible for sporadic disease worldwide in cattle and, to a lesser extent, in small ruminants, bighorn sheep (Ovis canadensis), and North American bison (Bison bison). The importance of H. somni diseases can be attributed to improved clinical and laboratory recognition, combined with the growth in intensive management practices for cattle. Although outbreaks of bovine histophilosis can occur year-round, in northern and southern hemispheres, it is most frequent in late fall and early winter. Weather, stress, dietary changes, and comingling of cattle are likely to be major triggers for outbreaks. The most frequent clinical expressions of histophilosis include undifferentiated fever, fibrinosuppurative pneumonia, encephalitis-leptomeningitis, necrotizing myocarditis, and diffuse pleuritis. Neurological disease occurs either as thrombotic meningoencephalitis (TME) or as suppurative meningitis with ventriculitis. Acute myocarditis is characteristically necrotizing and generally involves one or both papillary muscles in the left ventricular myocardium. Biofilm-like aggregates of bacteria occur in capillaries and veins in myocardium, in the central nervous system, and on endocardial surfaces. H. somni is a component of bovine respiratory disease (BRD) complex. In our experience, it is most commonly diagnosed in subacute-to-chronic polymicrobial pulmonary infections in combination with Mannheimia haemolytica, Trueperella pyogenes, Pasteurella multocida, or Mycoplasma bovis. Other, less common forms of H. somni disease present as polyarthritis/tenosynovitis, abortion with placentitis and fetal septicemia, epididymitis-orchitis, and ocular infections. It is likely that H. somni is under-recognized clinically and diagnostically. Most state and provincial laboratories in North America rely on bacterial isolation to confirm infection. The use of more sensitive detection methods on field cases of histophilosis will help resolve the pathogenesis of H. somni in natural outbreaks, and whether the disease is as common elsewhere as it is in Canada.

  12. Reward sensitivity deficits modulated by dopamine are associated with apathy in Parkinson’s disease

    PubMed Central

    Manohar, Sanjay; Ben Yehuda, Michael; Chong, Trevor T.-J.; Tofaris, George; Lennox, Graham; Bogdanovic, Marko; Hu, Michele; Husain, Masud

    2016-01-01

    Abstract Apathy is a debilitating and under-recognized condition that has a significant impact in many neurodegenerative disorders. In Parkinson’s disease, it is now known to contribute to worse outcomes and a reduced quality of life for patients and carers, adding to health costs and extending disease burden. However, despite its clinical importance, there remains limited understanding of mechanisms underlying apathy. Here we investigated if insensitivity to reward might be a contributory factor and examined how this relates to severity of clinical symptoms. To do this we created novel ocular measures that indexed motivation level using pupillary and saccadic response to monetary incentives, allowing reward sensitivity to be evaluated objectively. This approach was tested in 40 patients with Parkinson’s disease, 31 elderly age-matched control participants and 20 young healthy volunteers. Thirty patients were examined ON and OFF their dopaminergic medication in two counterbalanced sessions, so that the effect of dopamine on reward sensitivity could be assessed. Pupillary dilation to increasing levels of monetary reward on offer provided quantifiable metrics of motivation in healthy subjects as well as patients. Moreover, pupillary reward sensitivity declined with age. In Parkinson’s disease, reduced pupillary modulation by incentives was predictive of apathy severity, and independent of motor impairment and autonomic dysfunction as assessed using overnight heart rate variability measures. Reward sensitivity was further modulated by dopaminergic state, with blunted sensitivity when patients were OFF dopaminergic drugs, both in pupillary response and saccadic peak velocity response to reward. These findings suggest that reward insensitivity may be a contributory mechanism to apathy and provide potential new clinical measures for improved diagnosis and monitoring of apathy. 10.1093/brain/aww188_video_abstractaww188_video_abstract PMID:27452600

  13. Training Tomorrow's Doctors to Safeguard the Patients of Today: Using Medical Student Simulation Training to Explore Barriers to Recognition of Elder Abuse.

    PubMed

    Fisher, James M; Rudd, Matthew P; Walker, Richard W; Stewart, Jane

    2016-01-01

    In recognition of the fact that elder abuse is a global problem that doctors underrecognize and underreport, a simulation training session for undergraduate medical students was developed. The primary objective of this qualitative study was to examine barriers to and drivers of medical students making a diagnosis of elder abuse in simulated practice, with the goal of refining teaching methods and informing future teaching sessions for other clinical teachers. Third-year medical students (Newcastle University, United Kingdom) undertook a simulation scenario with a high-fidelity mannequin representing an elder abuse victim. After the simulation scenario, students underwent a semistructured debriefing. A tripartite approach to data collection was employed that included audio recordings of the simulation, data sheets capturing students' thoughts during the scenario, and postscenario debriefing. A different researcher analyzed each data set in isolation before discussions were held to triangulate findings from the data sets. Forty-six students undertook the scenario; none declined to participate. A number of barriers to students diagnosing elder abuse were identified. Students held a low index of suspicion for elder abuse and were overly optimistic regarding the etiology of the individual's injuries. Students lacked the confidence to raise concerns about possible elder abuse, believing that certainty was required before doing so. There was widespread confusion about nomenclature. These findings provide clinical teachers with important topic areas to address in future teaching sessions. Simulation, as a method to teach about elder abuse in a reproducible and immersive fashion, is recommended to clinical teachers. © 2016, Copyright the Authors Journal compilation © 2016, The American Geriatrics Society.

  14. Diagnosis and Management of Patients with Paroxysmal Sympathetic Hyperactivity following Acute Brain Injuries Using a Consensus-Based Diagnostic Tool: A Single Institutional Case Series.

    PubMed

    Godo, Shigeo; Irino, Shigemi; Nakagawa, Atsuhiro; Kawazoe, Yu; Fujita, Motoo; Kudo, Daisuke; Nomura, Ryosuke; Shimokawa, Hiroaki; Kushimoto, Shigeki

    2017-09-01

    Paroxysmal sympathetic hyperactivity (PSH) is a distinct syndrome of episodic sympathetic hyperactivities following severe acquired brain injury, characterized by paroxysmal transient fever, tachycardia, hypertension, tachypnea, excessive diaphoresis and specific posturing. PSH remains to be an under-recognized condition with a diagnostic pitfall especially in the intensive care unit (ICU) settings due to the high prevalence of concomitant diseases that mimic PSH. A consensus set of diagnostic criteria named PSH-Assessment Measure (PSH-AM) has been developed recently, which is consisted of two components: a diagnosis likelihood tool derived from clinical characteristics of PSH, and a clinical feature scale assigned to the severity of each sympathetic hyperactivity. We herein present a case series of patients with PSH who were diagnosed and followed by using PSH-AM in our tertiary institutional medical and surgical ICU between April 2015 and March 2017 in order to evaluate the clinical efficacy of PSH-AM. Among 394 survivors of 521 patients admitted with acquired brain injury defined as acute brain injury at all levels of severity regardless of the presence of altered consciousness, including traumatic brain injury, stroke, infectious disease, and encephalopathy, 6 patients (1.5%) were diagnosed as PSH by using PSH-AM. PSH-AM served as a useful scoring system for early objective diagnosis, assessment of severity, and serial evaluation of treatment efficacy in the management of PSH in the ICU settings. In conclusion, critical care clinicians should consider the possibility of PSH and can use PSH-AM as a useful diagnostic and guiding tool in the management of PSH.

  15. The Development of Psychopathy

    ERIC Educational Resources Information Center

    Blair, R. J. R.; Peschardt, K. S.; Budhani, S.; Mitchell, D. G. V.; Pine, D. S.

    2006-01-01

    The current review focuses on the construct of psychopathy, conceptualized as a clinical entity that is fundamentally distinct from a heterogeneous collection of syndromes encompassed by the term "conduct disorder". We will provide an account of the development of psychopathy at multiple levels: ultimate causal (the genetic or social primary…

  16. 21 CFR 520.1900 - Primidone tablets.

    Code of Federal Regulations, 2013 CFR

    2013-04-01

    ... for use of 50 and 250 milligram tablets. (c) Conditions of use in dogs—(1) Amount. Twenty-five..., epileptiform convulsions, viral encephalitis, distemper, and hardpad disease that occurs as a clinically recognizable lesion in certain entities in dogs.1 (3) Limitations. The tablets may be administered whole or...

  17. Deadly drop--cholinergic syndrome from wearing a laundered uniform.

    PubMed

    Senthilkumaran, Subramanian; SathyaPrabhu, Krishnanswamy; Balamurugan, Namasivayam; Thirumalaikolundusubramanian, Ponniah

    2012-01-01

    Unintentional organophosphate compound poisoning, although known, contamination of organophosphate compound through laundered uniform and subsequent transcutaneous absorption, in 30 children is reported herewith for its rarity. Emergency physicians have to recognize such entities clinically, confirm by laboratory means wherever possible, and intervene with appropriate measures.

  18. Delusional parasitosis in ENT.

    PubMed

    Bhandary, Satheesh Kumar; Peter, Ranjit; Bhat, Shrinivas

    2008-12-01

    Otolaryngologists in India often encounter patients with various insects presenting as foreign bodies in the ear and nose. However they overlook the possibility of the clinical entity that has come to be known as delusional parasitosis. Three patients presented in our OPD with this condition and their case reports are discussed.

  19. Cerebellar Liponeurocytoma: A Novel Report from Nigeria in a 6-Year-Old Girl, and Review of Literature.

    PubMed

    Nzegwu, Martin A; Ohegbulam, Samuel; Ndubuisi, Chika; Okwunodulu, Okwuoma; Okorie, Emeka; Nkwerem, Sunday; Okonkwo, Onyiye; Aniume, Onyeka; Nnamani, Sunday; Nwokoro, Onyekachi; Eni, Anthony; Nwideyi, Isaiah; Nzegwu, Victor

    2016-09-05

    Liponeurocytoma is a newly defined clinical entity predominantly seen in the cerebellum as a slow-growing tumor. In this report, we present the case of a 6-year-old Nigerian girl with a liponeurocytoma, and review of literature.

  20. [Choledocal cyst: analysis of 29 cases and review or the literature].

    PubMed

    Vila-Carbó, J J; Ayuso, L; Hernández, E; Lluna, J; Ibáñez, V

    2006-01-01

    The aim of the present study has been to systematize the clinical presentation of the entity named choledochal cyst, in relation with its probable etiopathology and the intraoperative findings as well as its evolution after surgery, based on the revision of the literature and of our experience in 29 cases. 29 cases of cystic dilatation of the biliar duct extra and/or intrahepatic are analyzed. In 4 cases the diagnosis was prenatal and two were excluded of the study after it has been confirmed they suffered biliary atresia type I. In the left 27 cases, 19 variables are analyzed retrospectively, like age, sex, weight, symptoms, ultrasonographic images, etc. Subsequently, intra-operative cholangiographic findings were correlated with the clinic presentation and the evolution of the patients after surgery. Of the 27 cases analyzed 16 (59,25%) were cystic dilatations from which 14 had a neonatal or early clinic presentation (before 2 years), however the fusiform dilatations were presented later on. From the analyzed symptoms, in relation with the age only the pain and the jaundice showed significant differences, being the pain most frequent in later presentation ande the jaundice in the early form. The two cases of type 3 of Todani or choledochocele were of later presentation. An anomaly in the bilionpacreatric junction was detected in 15 patients; the majority had a later presentation, associated to pancreatitis in 4 cases. Primary cyst excision and biliary Roux-en-Y reconstruction was the treatment of election in the majority of cases. In 3 cases we used the appendix to replace the choledocus, but all three cases were reconverted two years later because of permanent elevation of ALT and GGT. In favour of the literature and of our experience nowadays it would be possible to systematize this malformation and make a division in two groups, depending on the cholangiographic findings and clinical presentation: 1. Cystic dilatations with a clinical neonatal presentation or beneath 2 years. 2. Fusiform dilatations with a later clinical predominance and associated frequently to pancreatitis and anomalous pancreatobiliary junction. Choledochocele is an entity that must be considered not only for its etiology but for its clinical presentation and treatment. Primary cyst excision and biliary Roux-en-Y reconstruction is the treatment of election. Regular long-term review of these patients is mandatory in the surveillance of sub-clinic cholangitis and the risk of possible long-term malignance of this entity.

  1. Smoking-related interstitial lung diseases.

    PubMed

    Caminati, A; Graziano, P; Sverzellati, N; Harari, S

    2010-12-01

    In pulmonary pathology, a wide spectrum of morphological changes is related to the consequences of smoking, and recognizing them on surgical specimens and on small transbronchial biopsies represents a challenge for the pathologist. Respiratory bronchiolitis, also referred to as smoker's bronchiolitis, is a common histologic feature found in the lung tissue of cigarette smokers. When identified as the sole histopathologic finding in the clinical setting of symptomatic interstitial lung disease, a diagnosis of respiratory bronchiolitis-interstitial lung disease is made. Since smoking is recognized to cause a variety of histologic patterns encompassing respiratory bronchiolitis, respiratory bronchiolitis-interstitial lung disease, desquamative interstitial pneumonia and pulmonary Langerhans cell hystiocytosis, smoking-related interstitial lung disease may be a useful concept to keep in mind for the pathologists. The relationship of smoking with each of these entities has been largely established on the basis of epidemiologic evidence. Although they have been retained as distinct and separate conditions in various classifications of interstitial lung diseases, these entities share a number of clinical, radiologic, and pathologic features suggesting that they represent a spectrum of patterns of interstitial lung disease occurring in predisposed individuals who smoke. Evaluation of histologic features, particularly in surgical lung biopsy samples, is important in making the distinction between these disorders. However, even after tissue biopsy, it may sometimes be difficult to clearly separate these entities. Recently, respiratory bronchiolitis-interstitial lung disease with fibrosis has been described and postulated that this is a smoking-related condition distinct from fibrotic non-specific interstitial pneumonia.

  2. Radiation bronchitis and stenosis secondary to high dose rate endobronchial irradiation

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Speiser, B.L.; Spratling, L.

    The purpose of the study was to describe a new clinical entity observed in follow-up bronchoscopies in patients who were treated with high dose rate and medium dose rate remote afterloading brachytherapy of the tracheobronchial tree. Patients were treated by protocol with medium dose rate, 47 patients receiving 1000 cGy at a 5 mm depth times three fractions, high dose rate 144 patients receiving 1000 cGy at a 10 mm depth for three fractions and high dose rate 151 patients receiving cGy at a 10 mm depth for three fractions followed by bronchoscopy. Incidence of this entity was 9% formore » the first group, 12% for the second, and 13% for the third group. Reactions were grade 1 consisting of mild inflammatory response with a partial whitish circumferential membrane in an asymptomatic patient; grade 2, thicker complete white circumferential membrane with cough and/or obstructive problems requiring intervention; grade 3, severe inflammatory response with marked membranous exudate and mild fibrotic reaction; and grade 4 a predominant fibrotic reaction with progressive stenosis. Variables associated with a slightly increased incidence of radiation bronchitis and stenosis included: large cell carcinoma histology, curative intent, prior laser photoresection, and/or concurrent external radiation. Survival was the strongest predictor of the reaction. Radiation bronchitis and stenosis is a new clinical entity that must be identified in bronchial brachytherapy patients and treated appropriately. 23 refs., 3 figs., 7 tabs.« less

  3. Reorganizing the General Clinical Research Center to improve the clinical and translational research enterprise.

    PubMed

    Allen, David; Ripley, Elizabeth; Coe, Antoinette; Clore, John

    2013-12-01

    In 2010, Virginia Commonwealth University (VCU) was granted a Clinical and Translational Science Award which prompted reorganization and expansion of their clinical research infrastructure. A case study approach is used to describe the implementation of a business and cost recovery model for clinical and translational research and the transformation of VCU's General Clinical Research Center and Clinical Trials Office to a combined Clinical Research Services entity. We outline the use of a Plan, Do, Study, Act cycle that facilitated a thoughtful transition process, which included the identification of required changes and cost recovery processes for implementation. Through this process, the VCU Center for Clinical and Translational Research improved efficiency, increased revenue recovered, reduced costs, and brought a high level of fiscal responsibility through financial reporting.

  4. Cancer and autoimmunity: autoimmune and rheumatic features in patients with malignancies

    PubMed Central

    Abu-Shakra, M; Buskila, D; Ehrenfeld, M; Conrad, K; Shoenfeld, Y

    2001-01-01

    OBJECTIVES—To review the autoimmune and rheumatic manifestations of patients with malignancy.
METHODS—A Medline search of all published papers using keywords related to malignancies, autoimmunity, rheumatic diseases, and paraneoplastic syndromes.
RESULTS—Patients with malignant diseases may develop autoimmune phenomena and rheumatic diseases as a result of (a) generation of autoantibodies against various autoantigens, including oncoproteins (P185, 1-myc, c-myc, c-myb), tumour suppression genes (P53), proliferation associated antigens (cyclin A, B1, D1, E; CENP-F; CDK, U3-RNP), onconeural antigens (Hu, Yo, Ri, Tr), cancer/testis antigens (MAGE, GAGE, BAGE, SSX, ESO, SCP, CT7), and rheumatic disease associated antigens (RNP, Sm). The clinical significance of the various autoantibodies is not clear. Anti-oncoprotein and anti-tumour suppression gene antigens are detected before the diagnosis of the cancer or in the early stages of the malignant disease, suggesting a potential diagnostic or prognostic role. Anti-onconeural antibodies are pathogenic and are associated with specific clinical neurological syndromes (anti-Hu syndrome and others). (b) Paraneoplastic syndromes, a wide range of clinical syndromes, including classic autoimmune rheumatic diseases that develop among patients with cancer. (c) Rheumatism after chemotherapy, a clinical entity characterised by the development of musculoskeletal symptoms after combination chemotherapy for malignancy.
CONCLUSION—Autoimmune and rheumatic features are not rare among patients with malignancies. They are the result of various diverse mechanisms and occasionally they may be associated with serious clinical entities.

 PMID:11302861

  5. Risk factors for and management of graft pancreatitis.

    PubMed

    Nadalin, Silvio; Girotti, Paolo; Königsrainer, Alfred

    2013-02-01

    Systematic and detailed analysis of risk factors, pathophysiology, clinical manifestation, diagnosis and management of graft pancreatitis in its different forms, that is acute and chronic graft pancreatitis (A-GP and C-GP), and A-GP being further distinguished into: physiological (P-AGP), early (E-AGP) and late AP (L-AGP). Graft pancreatitis is the second most-frequent complication following pancreas transplantation. P-AGP is an unavoidable entity related to ischemic reperfusion injury. It is usually clinically silent. It is a timely and prognostically self-limited process. E-AGP occurs within 3 months after pancreas transplantation (PTx) in 35% of cases and is associated with high rates of graft loss (78-91%). Clinical signs are pain, systemic inflammatory response (SIRS) and haematuria. Therapy can be medical, interventional and surgical. L-AGP occurs 3 months following PTx in 14-25% of cases and represents an uncommon cause of graft loss. Typical clinical signs are pain, abdominal tenderness and fever. Typical laboratory signs are hyperamylasaemia, hyperglycaemia and hypercreatininaemia. Therapy is usually conservative. C-GP is difficult to be distinguished from chronic rejection and is associated to graft loss in 4-10% of cases. Recurrent A-GPs and infections are the main risk factors. Specific symptoms are chronic abdominal malaise, constipation and recurrence of DM. Isolated hyperglycaemia is typical of C-GP. The therapy is usually conservative. This systematic analysis of different manifestations of graft pancreatitis provides the basis for a clinical approach to tackling this complex entity.

  6. Bilateral nanophthalmos, pigmentary retinal dystrophy, and angle closure glaucoma--a new syndrome?

    PubMed Central

    Ghose, S; Sachdev, M S; Kumar, H

    1985-01-01

    An unusual case of bilateral nanophthalmos with pigmentary retinal dystrophy and angle closure glaucoma is presented. This is probably the first published report of the established association of all these three entities in the same patient. The aetiological possibilities and clinical significance are discussed. Images PMID:4016062

  7. Hospital Consolidation: FTC May be a Stick in the Spokes of Hospital Mergers.

    PubMed

    Kirkner, Richard Mark

    2017-12-01

    For instance, in the case of Sanford Health's acquisition of Mid Dakota Clinic in North Dakota, the agency challenged the deal, claiming that the merged entity would control 75% or more of primary care and other health services in the Bismarck-Mandan metropolitan area.

  8. Generation to Generation: The Heart of Family Medicine

    ERIC Educational Resources Information Center

    Winter, Robin O.

    2012-01-01

    According to the American Board of Family Medicine, "The scope of family medicine encompasses all ages, both sexes, each organ system and every disease entity." What makes the seemingly daunting task of practicing family medicine possible is that family physicians learn to utilize similar clinical reasoning for all of their patients…

  9. Acute esophageal necrosis and liver pathology, a rare combination

    PubMed Central

    Khan, Amir Maqbul; Hundal, Rangit; Ramaswamy, Vijaya; Korsten, Mark; Dhuper, Sunil

    2004-01-01

    Acute esophageal necrosis (AEN) or “black esophagus” is a clinical condition found at endoscopy. It is a rare entity the exact etiology of which remains unknown. We describe a case of ‘black esophagus’, first of its kind, in the setting of liver cirrhosis and hepatic encephalopathy. PMID:15285044

  10. Dermatitis neglecta: a challenging diagnosis in psychodermatology.

    PubMed

    Lopes, Sofia; Vide, Júlia; Antunes, Isabel; Azevedo, Filomena

    2018-06-01

    Dermatitis neglecta is a condition affecting the skin caused by a lack of hygiene. It may be related to psychiatric and neurological disturbances. The appearance of skin lesions results from neglect, which helps distinguish this condition from other similar clinical entities. Resolution of the lesions with adequate cleansing aids a definitive diagnosis.

  11. Cerebellar Liponeurocytoma: A Novel Report from Nigeria in a 6-Year-Old Girl, and Review of Literature

    PubMed Central

    Nzegwu, Martin A.; Ohegbulam, Samuel; Ndubuisi, Chika; Okwunodulu, Okwuoma; Okorie, Emeka; Nkwerem, Sunday; Okonkwo, Onyiye; Aniume, Onyeka; Nnamani, Sunday; Nwokoro, Onyekachi; Eni, Anthony; Nwideyi, Isaiah; Nzegwu, Victor

    2016-01-01

    Liponeurocytoma is a newly defined clinical entity predominantly seen in the cerebellum as a slow-growing tumor. In this report, we present the case of a 6-year-old Nigerian girl with a liponeurocytoma, and review of literature. PMID:27746877

  12. Keratinizing dentigerous cyst

    PubMed Central

    Sivasankar, Vaishnavi; Ranganathan, Kannan; Praveen, B

    2014-01-01

    Keratinizing dentigerous cyst is a rare entity. This article reports a case of keratinizing dentigerous cyst associated with an impacted mandibular canine. Clinical and radiological features, cone-beam computed tomography findings and histological features of the case are reported along with a discussion on keratinizing odontogenic cysts and the need for follow-up. PMID:24808713

  13. [Lupoid syndrome in "BCG-itis." Report of a case].

    PubMed

    Ramírez, O; Ramírez, R

    1986-01-01

    It is presented the first case of lupoid syndrome of "BCG-itis" found in El Salvador. Its clinic-pathological study is conclusive for such dermatological entity. The complications of vaccination with BCG are rare. It must be treated as an active tuberculosis, but with a greater control of the patient.

  14. Web 2.0-Based Crowdsourcing for High-Quality Gold Standard Development in Clinical Natural Language Processing

    PubMed Central

    Deleger, Louise; Li, Qi; Kaiser, Megan; Stoutenborough, Laura

    2013-01-01

    Background A high-quality gold standard is vital for supervised, machine learning-based, clinical natural language processing (NLP) systems. In clinical NLP projects, expert annotators traditionally create the gold standard. However, traditional annotation is expensive and time-consuming. To reduce the cost of annotation, general NLP projects have turned to crowdsourcing based on Web 2.0 technology, which involves submitting smaller subtasks to a coordinated marketplace of workers on the Internet. Many studies have been conducted in the area of crowdsourcing, but only a few have focused on tasks in the general NLP field and only a handful in the biomedical domain, usually based upon very small pilot sample sizes. In addition, the quality of the crowdsourced biomedical NLP corpora were never exceptional when compared to traditionally-developed gold standards. The previously reported results on medical named entity annotation task showed a 0.68 F-measure based agreement between crowdsourced and traditionally-developed corpora. Objective Building upon previous work from the general crowdsourcing research, this study investigated the usability of crowdsourcing in the clinical NLP domain with special emphasis on achieving high agreement between crowdsourced and traditionally-developed corpora. Methods To build the gold standard for evaluating the crowdsourcing workers’ performance, 1042 clinical trial announcements (CTAs) from the ClinicalTrials.gov website were randomly selected and double annotated for medication names, medication types, and linked attributes. For the experiments, we used CrowdFlower, an Amazon Mechanical Turk-based crowdsourcing platform. We calculated sensitivity, precision, and F-measure to evaluate the quality of the crowd’s work and tested the statistical significance (P<.001, chi-square test) to detect differences between the crowdsourced and traditionally-developed annotations. Results The agreement between the crowd’s annotations and the traditionally-generated corpora was high for: (1) annotations (0.87, F-measure for medication names; 0.73, medication types), (2) correction of previous annotations (0.90, medication names; 0.76, medication types), and excellent for (3) linking medications with their attributes (0.96). Simple voting provided the best judgment aggregation approach. There was no statistically significant difference between the crowd and traditionally-generated corpora. Our results showed a 27.9% improvement over previously reported results on medication named entity annotation task. Conclusions This study offers three contributions. First, we proved that crowdsourcing is a feasible, inexpensive, fast, and practical approach to collect high-quality annotations for clinical text (when protected health information was excluded). We believe that well-designed user interfaces and rigorous quality control strategy for entity annotation and linking were critical to the success of this work. Second, as a further contribution to the Internet-based crowdsourcing field, we will publicly release the JavaScript and CrowdFlower Markup Language infrastructure code that is necessary to utilize CrowdFlower’s quality control and crowdsourcing interfaces for named entity annotations. Finally, to spur future research, we will release the CTA annotations that were generated by traditional and crowdsourced approaches. PMID:23548263

  15. Encoding of Fundamental Chemical Entities of Organic Reactivity Interest using chemical ontology and XML.

    PubMed

    Durairaj, Vijayasarathi; Punnaivanam, Sankar

    2015-09-01

    Fundamental chemical entities are identified in the context of organic reactivity and classified as appropriate concept classes namely ElectronEntity, AtomEntity, AtomGroupEntity, FunctionalGroupEntity and MolecularEntity. The entity classes and their subclasses are organized into a chemical ontology named "ChemEnt" for the purpose of assertion, restriction and modification of properties through entity relations. Individual instances of entity classes are defined and encoded as a library of chemical entities in XML. The instances of entity classes are distinguished with a unique notation and identification values in order to map them with the ontology definitions. A model GUI named Entity Table is created to view graphical representations of all the entity instances. The detection of chemical entities in chemical structures is achieved through suitable algorithms. The possibility of asserting properties to the entities at different levels and the mechanism of property flow within the hierarchical entity levels is outlined. Copyright © 2015 Elsevier Inc. All rights reserved.

  16. Thalamic and extrathalamic mechanisms of consciousness after severe brain injury.

    PubMed

    Lutkenhoff, Evan S; Chiang, Jeffrey; Tshibanda, Luaba; Kamau, Evelyn; Kirsch, Murielle; Pickard, John D; Laureys, Steven; Owen, Adrian M; Monti, Martin M

    2015-07-01

    What mechanisms underlie the loss and recovery of consciousness after severe brain injury? We sought to establish, in the largest cohort of patients with disorders of consciousness (DOC) to date, the link between gold standard clinical measures of awareness and wakefulness, and specific patterns of local brain pathology-thereby possibly providing a mechanistic framework for patient diagnosis, prognosis, and treatment development. Structural T1-weighted magnetic resonance images were collected, in a continuous sample of 143 severely brain-injured patients with DOC (and 96 volunteers), across 2 tertiary expert centers. Brain atrophy in subcortical regions (bilateral thalamus, basal ganglia, hippocampus, basal forebrain, and brainstem) was assessed across (1) healthy volunteers and patients, (2) clinical entities (eg, vegetative state, minimally conscious state), (3) clinical measures of consciousness (Coma Recovery Scale-Revised), and (4) injury etiology. Compared to volunteers, patients exhibited significant atrophy across all structures (p < 0.05, corrected). Strikingly, we found almost no significant differences across clinical entities. Nonetheless, the clinical measures of awareness and wakefulness upon which differential diagnosis rely were systematically associated with tissue atrophy within thalamic and basal ganglia nuclei, respectively; the basal forebrain was atrophied in proportion to patients' response to sensory stimulation. In addition, nontraumatic injuries exhibited more extensive thalamic atrophy. These findings provide, for the first time, a grounding in pathology for gold standard behavior-based clinical measures of consciousness, and reframe our current models of DOC by stressing the different links tying thalamic mechanisms to willful behavior and extrathalamic mechanisms to behavioral (and electrocortical) arousal. © 2015 American Neurological Association.

  17. Small bowel intussusception due to a primary non-Hodgkin's lymphoma. An unusual presentation and clinical course.

    PubMed

    Salemis, Nikolaos S; Tsiambas, Evangelos; Liatsos, Christos; Karameris, Andreas; Tsohataridis, Efstathios

    2010-12-01

    Adult intussusception is a rare clinical entity accounting for 5% of all intussusceptions. Symptoms and signs are often vague and non-specific making a preoperative diagnosis difficult. The purpose of this study is to present a rare case of a jejuno-jejunal intussusception due to primary intestinal non-Hodgkin's lymphoma in a patient with an unusual clinical course. A 78-year-old man presented with a 1-month history of abdominal pain, nausea, epigastric fullness, and weight loss. Computed tomography scan and ultrasonography findings were suggestive of small bowel intussusception. Laparotomy revealed a jejuno-jejunal intussusception caused by a primary B cell non-Hodgkin's lymphoma 20 cm distal to the ligament of Treitz. Resection without prior reduction was performed. The patient refused postoperative adjuvant chemotherapy. Seven months later, he presented with upper gastrointestinal bleeding, and the diagnostic evaluation revealed gastric infiltration of large B cell non-Hodgkin's lymphoma. Despite chemotherapy, he died of disseminated progressive disease 7 months later. Adult jejuno-jejunal intussusception due to primary non-Hodgkin's lymphoma is a rare clinical entity. A high index of suspicion is needed as symptoms and signs are not pathognomonic. Appropriate investigations can lead to a prompt preoperative diagnosis. Resection without prior reduction is the treatment of choice. Our patient's refusal of postoperative adjuvant chemotherapy likely resulted in relapse of the disease in another part of the gastrointestinal tract.

  18. Uveitis in São Paulo, Brazil: 1053 New Patients in 15 Months.

    PubMed

    Gonzalez Fernandez, Delia; Nascimento, Heloisa; Nascimento, Caio; Muccioli, Cristina; Belfort, Rubens

    2017-06-01

    To describe the clinical profile of uveitis and analyze changes over a 34-year period in the frequency of different entities and demographics, anatomic data, diagnoses, and systemic associations in São Paulo, Brazil. A total of 1053 consecutive patients who presented for the first time at the outpatient uveitis clinic were analyzed in a prospective, observational study, conducted between July 2012 and September 2013. Age, gender, clinical characteristics, visual acuity, and clinical and etiologic diagnoses in patients with and without human immunodeficiency virus (HIV) were studied. Mean age was 39.8 ± 17.8 years (56.8% female), with most between 41 and 64 years (41.79%); 10.9% of the patients were HIV-positive and 8.1% were legally blind (best-corrected visual acuity (BCVA): ≤ 20/400) at the first evaluation. The posterior, bilateral, and chronic forms of uveitis occurred most frequently and toxoplasmosis was the main cause (24.03%) but was less frequent than in 1980; the same was true for Fuchs heterochromic iridocyclitis. Syphilis, tuberculosis, Vogt-Koyanagi-Harada disease, and juvenile idiopathic arthritis-related uveitis had increased incidence rates. The current results can help determine the present epidemiology of uveitis and its changes over time in Brazil and increases essential information about the disease. Many uveitic entities are curable and visual damage can be prevented or limited if treated early and appropriately.

  19. Demodex Folliculitis of the Scalp: Clinicopathological Study of an Uncommon Entity.

    PubMed

    Helou, Wissam; Avitan-Hersh, Emily; Bergman, Reuven

    2016-09-01

    Demodex is a saprophytic mite in humans commonly present in the pilosebaceous units, which has been implicated as a pathogen in several skin conditions. The clinical presentation and histopathology of Demodex folliculitis of the scalp have been described in only a few case reports. This study was performed to further elucidate the clinicopathological features of this entity. We have studied 333 consecutively submitted scalp biopsies performed for hair loss and alopecia. All specimens were completely step-sectioned. Biopsies with Demodex mites were further studied histopathologically, and the patients' clinical files were reviewed. There were 17 biopsies (5.1%) with Demodex in at least 1 pilosebaceous unit. Based on the clinical presentation, histopathology, and response to therapy, Demodex was considered to be nonpathogenic in 13 cases. The remaining 4 cases were characterized by hair loss, scalp erythema, scales, and pustules. There were 2 or more pilosebaceous units with Demodex along mononuclear and/or neutrophilic infiltrates around and in the involved follicles and occasionally granulomas. All 4 cases responded completely to metronidazole therapy. In conclusion, Demodex is infrequently found in scalp biopsies for hair loss and alopecia, and, in most cases, it does not seem to be pathogenic. Occasionally, however, it is associated with folliculitis characterized by hair loss, erythema, scales, and pustules clinically; neutrophilic and/or mononuclear-cell folliculitis with occasional granulomas histopathologically; and a prompt response to anti-Demodex therapy.

  20. Primary lacrimal canaliculitis - A clinical entity often misdiagnosed.

    PubMed

    Singh, Manpreet; Gautam, Natasha; Agarwal, Aniruddha; Kaur, Manpreet

    2018-03-01

    Primary lacrimal canaliculitis (PLC) is a unique disorder which often gets misdiagnosed by the general as well as speciality-trained ophthalmologists. Elderly patients with history of chronic or recurrent epiphora with discharge, often get mislead towards chronic dacryocystitis. The aim of our report is to discuss the misleading diseases in our PLC patients and to revisit this hidden disease. The patients of PLC who were previously misdiagnosed were studied. The clinical history, presenting clinical features, misdiagnosis, and final management of the patients is described. There were 5 misdiagnosed female patients. A history of chronic redness, watering, discharge, and medial canthal region edema lead to the misdiagnosis of chronic dacryocystitis in 3 (60%) and medial marginal chalazion in 2 (40%) cases. Slit-lamp examination revealed localized hyperemia (n = 5), classical pouting of lacrimal punctum (n = 3), and expressible purulent discharge (n = 3). Two patients without punctum pouting had an explicit yellowish hue/discoloration of the canalicular region. Our patients had a mean 4 visits before an accurate diagnosis. Three-snip punctoplasty with canalicular curettage was performed in three while two were managed conservatively. At last follow-up, all patients were symptom-free with punctum and canalicular scarring in three, who underwent surgery. PLC is a frequently misdiagnosed clinical entity which delays the initiation of appropriate treatment. A succinct magnified examination of punctum and canalicular region can provide sufficient clues pivotal for accurate diagnosis.

  1. Vocal cord paralysis: What matters between idiopathic and non-idiopathic cases?

    PubMed

    Özbal Koç, Ayça Eltaf; Türkoğlu, Seda Babakurban; Erol, Ozan; Erbek, Selim

    2016-01-01

    This study aims to evaluate the demographic and clinical characteristics of patients with idiopathic and non-idiopathic vocal cord paralysis (VCP). This retrospective cohort was performed on data extracted from medical files of 92 consecutive patients (43 males, 49 females; median age 52.1±23.1 years; min. 1 - max. 87) with VCP diagnosed in the otorhinolaryngology department between April 2012 and December 2015. Diagnoses associated with VCP, side of involvement (right, left or bilateral) and previous medical histories were noted and compared between patients with idiopathic and non-idiopathic VCP. Vocal cord paralysis occurred on the left side (n=56, 60.9%), right side (n=28, 30.4%) or bilaterally (n=8, 8.7%). A clinical entity related with VCP was identified in 63 patients (68.5%), while 29 (31.5%) patients had idiopathic VCP. Most common etiologies for VCP were thyroid surgery (n=32, 34.8%), cardiovascular surgery (n=9, 9.8%), lung cancer (n=6, 6.5%) and cardiac anomalies (n=4, 4.3%), respectively. Patients with idiopathic VCP were significantly older (p<0.001), while gender distribution (p=0.121) and side of involvement (p=0.340) did not differ between two groups. Vocal cord paralysis is a relatively common clinical entity with substantial rate of morbidity. Identification of the underlying etiology and awareness on the clinical characteristics are keystones for foreseeing complications and determining the appropriate therapeutic modality.

  2. Role of endoscopy in recalcitrant intraventricular tuberculoma-innovative novel treatment adjunct.

    PubMed

    Udayakumaran, Suhas; Nair, Prakash; Kumar, Anil; Panikar, Dilip

    2014-09-15

    Introduction. Intraventricular tuberculomas are rare entities. To the best of our knowledge, only 14 cases have been reported in English literature. Medical management of cerebral tuberculomas is well accepted. Intraventricular tuberculomas may be recalcitrant for unclear reasons. An effective management protocol for this entity is unclear. To the best of our knowledge, the definitive indication, timing, and possible role of surgery in these lesions have not been discussed in literature. Materials and methods. A 27-year-old nursing professional who was undergoing treatment for miliary tuberculosis at another center presented to us in 2008 with right hemiparesis, deteriorating vision, and progressive decline in consciousness. In addition to antituberculous therapy (ATT), she underwent multiple CSF diversion procedures for the obstructive hydrocephalus secondary to a recalcitrant third ventricular tuberculoma. Finally, she underwent endoscopic decompression of the lesion with a very good clinical response at 1-year follow-up. Discussion. We discuss a patient with recalcitrant intraventricular tuberculoma managed using neuroendoscopy along with the standard antituberculous therapy. We also discuss in detail the technique we utilized for endoscopic management of this lesion. Conclusion. Being a rare entity, a consensus for management of these lesions is not possible, but we have demonstrated that neuroendoscopic management of these rare entities is an option giving the advantage of definitive diagnosis when required, hastening the resolution, and clearing the CSF pathway.

  3. Mayo Clinic/Renal Pathology Society Consensus Report on Pathologic Classification, Diagnosis, and Reporting of GN.

    PubMed

    Sethi, Sanjeev; Haas, Mark; Markowitz, Glen S; D'Agati, Vivette D; Rennke, Helmut G; Jennette, J Charles; Bajema, Ingeborg M; Alpers, Charles E; Chang, Anthony; Cornell, Lynn D; Cosio, Fernando G; Fogo, Agnes B; Glassock, Richard J; Hariharan, Sundaram; Kambham, Neeraja; Lager, Donna J; Leung, Nelson; Mengel, Michael; Nath, Karl A; Roberts, Ian S; Rovin, Brad H; Seshan, Surya V; Smith, Richard J H; Walker, Patrick D; Winearls, Christopher G; Appel, Gerald B; Alexander, Mariam P; Cattran, Daniel C; Casado, Carmen Avila; Cook, H Terence; De Vriese, An S; Radhakrishnan, Jai; Racusen, Lorraine C; Ronco, Pierre; Fervenza, Fernando C

    2016-05-01

    Renal pathologists and nephrologists met on February 20, 2015 to establish an etiology/pathogenesis-based system for classification and diagnosis of GN, with a major aim of standardizing the kidney biopsy report of GN. On the basis of etiology/pathogenesis, GN is classified into the following five pathogenic types, each with specific disease entities: immune-complex GN, pauci-immune GN, antiglomerular basement membrane GN, monoclonal Ig GN, and C3 glomerulopathy. The pathogenesis-based classification forms the basis of the kidney biopsy report. To standardize the report, the diagnosis consists of a primary diagnosis and a secondary diagnosis. The primary diagnosis should include the disease entity/pathogenic type (if disease entity is not known) followed in order by pattern of injury (mixed patterns may be present); score/grade/class for disease entities, such as IgA nephropathy, lupus nephritis, and ANCA GN; and additional features as detailed herein. A pattern diagnosis as the sole primary diagnosis is not recommended. Secondary diagnoses should be reported separately and include coexisting lesions that do not form the primary diagnosis. Guidelines for the report format, light microscopy, immunofluorescence microscopy, electron microscopy, and ancillary studies are also provided. In summary, this consensus report emphasizes a pathogenesis-based classification of GN and provides guidelines for the standardized reporting of GN. Copyright © 2016 by the American Society of Nephrology.

  4. Mining relational paths in integrated biomedical data.

    PubMed

    He, Bing; Tang, Jie; Ding, Ying; Wang, Huijun; Sun, Yuyin; Shin, Jae Hong; Chen, Bin; Moorthy, Ganesh; Qiu, Judy; Desai, Pankaj; Wild, David J

    2011-01-01

    Much life science and biology research requires an understanding of complex relationships between biological entities (genes, compounds, pathways, diseases, and so on). There is a wealth of data on such relationships in publicly available datasets and publications, but these sources are overlapped and distributed so that finding pertinent relational data is increasingly difficult. Whilst most public datasets have associated tools for searching, there is a lack of searching methods that can cross data sources and that in particular search not only based on the biological entities themselves but also on the relationships between them. In this paper, we demonstrate how graph-theoretic algorithms for mining relational paths can be used together with a previous integrative data resource we developed called Chem2Bio2RDF to extract new biological insights about the relationships between such entities. In particular, we use these methods to investigate the genetic basis of side-effects of thiazolinedione drugs, and in particular make a hypothesis for the recently discovered cardiac side-effects of Rosiglitazone (Avandia) and a prediction for Pioglitazone which is backed up by recent clinical studies.

  5. "Disease entity" as the key theoretical concept of medicine.

    PubMed

    Hucklenbroich, Peter

    2014-12-01

    Philosophical debates about the concept of disease, particularly of mental disease, might benefit from reconsideration and a closer look at the established terminology and conceptual structure of contemporary medical pathology and clinical nosology. The concepts and principles of medicine differ, to a considerable extent, from the ideas and notions of philosophical theories of disease. In medical theory, the concepts of disease entity and pathologicity are, besides the concept of disease itself, of fundamental importance, and they are essentially connected to the concepts cause of disease or etiological factor, natural course or natural history of disease, and pathological disposition. It is the concept of disease entity that is of key importance for understanding medical pathology and theory of disease. Its central role is shown by a short reconstruction of its main features and its intrinsic connection to the concept of pathologicity. The meaning of pathologicity is elucidated by explicating the underlying criteria. © The Author 2014. Published by Oxford University Press, on behalf of the Journal of Medicine and Philosophy Inc. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  6. Emerging biological insights and novel treatment strategies in primary mediastinal large B-cell lymphoma.

    PubMed

    Dunleavy, Kieron; Steidl, Christian

    2015-04-01

    While primary mediastinal large B-cell lymphoma (PMBCL) is considered to be a subtype of diffuse large B-cell lymphoma, it is a distinct clinicopathologic entity, with clinical and biological features closely resembling nodular sclerosing Hodgkin lymphoma. Recent studies have highlighted the shared biology of these two entities and identified novel critical pathways of lymphomagenesis, including the presence of distinct mutations. Mediastinal grey zone lymphomas with features in between PMBCL and nodular sclerosing Hodgkin lymphoma have been described as the missing link between the two parent entities. While the standard therapeutic approach to PMBCL has been immunochemotherapy followed by mediastinal radiation, strategies that obviate the need for radiation and thus eliminate its long-term toxicities have recently been developed. The identification of novel targets in PMBCL and mediastinal grey zone lymphomas have paved the way for testing of agents such as small molecule inhibitors of Janus kinase pathways and immune checkpoint inhibitors. Future directions in these diseases should focus on combining effective novel agents with immunochemotherapy platforms. Published by Elsevier Inc.

  7. Pustular psoriasis: pathophysiology and current treatment perspectives

    PubMed Central

    Benjegerdes, Katie E; Hyde, Kimberly; Kivelevitch, Dario; Mansouri, Bobbak

    2016-01-01

    Psoriasis vulgaris is a chronic inflammatory disease that classically affects skin and joints and is associated with numerous comorbidities. There are several clinical subtypes of psoriasis including the uncommon pustular variants, which are subdivided into generalized and localized forms. Generalized forms of pustular psoriasis include acute generalized pustular psoriasis, pustular psoriasis of pregnancy, and infantile and juvenile pustular psoriasis. Localized forms include acrodermatitis continua of Hallopeau and palmoplantar pustular psoriasis. These subtypes vary in their presentations, but all have similar histopathologic characteristics. The immunopathogenesis of each entity remains to be fully elucidated and some debate exists as to whether these inflammatory pustular dermatoses should be classified as entities distinct from psoriasis vulgaris. Due to the rarity of these conditions and the questionable link to the common, plaque-type psoriasis, numerous therapies have shown variable results and most entities remain difficult to treat. With increasing knowledge of the pathogenesis of these variants of pustular psoriasis, the development and use of biologic and other immunomodulatory therapies holds promise for the future of successfully treating pustular variants of psoriasis. PMID:29387600

  8. Dissecting disease entities out of the broad spectrum of bipolar-disorders.

    PubMed

    Levine, Joseph; Toker, Lilach; Agam, Galila

    2018-01-01

    The etiopathology of bipolar disorders is yet unraveled and new avenues should be pursued. One such avenue may be based on the assumption that the bipolar broad spectrum includes, among others, an array of rare medical disease entities. Towards this aim we propose a dissecting approach based on a search for rare medical diseases with known etiopathology which also exhibit bipolar disorders symptomatology. We further suggest that the etiopathologic mechanisms underlying such rare medical diseases may also underlie a rare variant of bipolar disorder. Such an assumption may be further reinforced if both the rare medical disease and its bipolar clinical phenotype demonstrate a] a similar mode of inheritance (i.e, autosomal dominant); b] brain involvement; and c] data implicating that the etiopathological mechanisms underlying the rare diseases affect biological processes reported to be associated with bipolar disorders and their treatment. We exemplify our suggested approach by a rare case of autosomal dominant leucodystrophy, a disease entity exhibiting nuclear lamin B1 pathology also presenting bipolar symptomatology. Copyright © 2017 Elsevier B.V. All rights reserved.

  9. Clinical engineering and risk management in healthcare technological process using architecture framework.

    PubMed

    Signori, Marcos R; Garcia, Renato

    2010-01-01

    This paper presents a model that aids the Clinical Engineering to deal with Risk Management in the Healthcare Technological Process. The healthcare technological setting is complex and supported by three basics entities: infrastructure (IS), healthcare technology (HT), and human resource (HR). Was used an Enterprise Architecture - MODAF (Ministry of Defence Architecture Framework) - to model this process for risk management. Thus, was created a new model to contribute to the risk management in the HT process, through the Clinical Engineering viewpoint. This architecture model can support and improve the decision making process of the Clinical Engineering to the Risk Management in the Healthcare Technological process.

  10. [Differential diagnosis of febrile exanthema].

    PubMed

    Aramă, St S; Anca, Ioana Alina; Munteanu, Daniela-Ioana; Aramă, Victoria; Hristea, Adriana; Moroti, Ruxandra; Ion, Daniela Adriana

    2007-01-01

    Febrile exanthema (FE) is an extremely polymorphous clinical entity, frequently seen in daily clinical practice. FE is characterized by diffuse rash and fever. FE is classified in 4 types, depending on the primary skin lesion: macular, maculopapular, vesicular, and bullous exanthema. It is of infectious and non-infectious cause. Among the infectious causes the most frequent is the viral one. FE may affect all ages, but especially children and young people. Usually, FE raises important issues of differential diagnosis, because its clinical and etiological complexity. To decide the most appropriate therapeutic and prophylactic measures for FE, it is important to know the clinical criteria and the specific diagnostic methods.

  11. Clinical application of vestibular evoked myogenic potential (VEMP).

    PubMed

    Murofushi, Toshihisa

    2016-08-01

    The author reviewed clinical aspects of vestibular evoked myogenic potentials (VEMPs). Now two types of VEMPs are available. The first one is cervical VEMP, which is recorded in the sternocleidomastoid muscle and predominantly reflects sacculo-collic reflex. The other is ocular VEMP, which is usually recorded below the lower eye lid and predominantly reflects utriculo-ocular reflex. VEMPs play important roles not only for assessment of common vestibular diseases but also for establishment of new clinical entities. Clinical application in Meniere's disease, vestibular neuritis, benign paroxysmal positional vertigo, vestibular migraine, idiopathic otolithic vertigo, and central vertigo/dizziness was reviewed. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  12. Overview of Common Sleep Disorders and Intersection with Dermatologic Conditions.

    PubMed

    Walia, Harneet K; Mehra, Reena

    2016-04-30

    Sleep disorders are very common, often under-recognized and therefore undertreated, are associated with a myriad of medical conditions and could lead to significant impairment of quality of life. This review provides an up-to-date synopsis of common sleep disorders encompassing insufficient sleep syndrome, insomnia, circadian rhythm disorders and obstructive sleep apnea with a brief overview of epidemiology, screening, diagnostic testing and treatment. We also emphasize the emerging area of the intersection of sleep disorders and dermatologic conditions and present compelling data regarding underlying mechanisms including sleep dysfunction in relation to disorders of skin inflammation, aging and skin cancer.

  13. A case of refeeding syndrome in a marine recruit.

    PubMed

    Bunge, Paul D; Frank, Laura L

    2013-04-01

    Refeeding syndrome is an under-recognized complication of starvation. Presented is a 26-year-old Marine recruit who was found to have hypothermia, mental status changes, and rhabdomyolysis after purposeful weight loss with calorie restriction in conjunction with an arduous exercise program. With rest and food, the patient developed refeeding syndrome, with hypophosphatemia requiring prolonged intravenous replacement. His case is unique in illustrating both malnutrition and refeeding syndrome in someone who appeared to be healthy and was exercising strenuously up to the point of hospital admission. Reprint & Copyright © 2013 Association of Military Surgeons of the U.S.

  14. Burning Mouth Syndrome.

    PubMed

    Klasser, Gary D; Grushka, Miriam; Su, Nan

    2016-08-01

    Burning mouth syndrome (BMS) is an enigmatic, misunderstood, and under-recognized painful condition. Symptoms associated with BMS can be varied, thereby providing a challenge for practitioners and having a negative impact on oral health-related quality of life for patients. Management also remains a challenge for practitioners because it is currently only targeted for symptom relief without a definitive cure. There is an urgent need for further investigations to determine the efficacy of different therapies because this is the only way viable therapeutic options can be established for patients with this chronic and painful syndrome. Copyright © 2016 Elsevier Inc. All rights reserved.

  15. Genetics and molecular biology of hypotension

    NASA Technical Reports Server (NTRS)

    Robertson, D.

    1994-01-01

    Major strides in the molecular biology of essential hypertension are currently underway. This has tended to obscure the fact that a number of inherited disorders associated with low blood pressure exist and that these diseases may have milder and underrecognized phenotypes that contribute importantly to blood pressure variation in the general population. This review highlights some of the gene products that, if abnormal, could cause hypotension in some individuals. Diseases due to abnormalities in the catecholamine enzymes are discussed in detail. It is likely that genetic abnormalities with hypotensive phenotypes will be as interesting and diverse as those that give rise to hypertensive disorders.

  16. Introduction to pseudobulbar affect: setting the stage for recognition and familiarity with this challenging disorder.

    PubMed

    Demler, Tammie Lee

    2017-12-01

    Pseudobulbar affect (PBA), despite its prevalence and distinctive symptoms, is widely underrecognized and undertreated. It is characterized by uncontrollable laughing or crying that can occur in an exaggerated manner or inappropriately to a given situation or stimuli. PBA is thought to center around preexisting neurological conditions, which include Parkinson disease, multiple sclerosis, amyotrophic lateral sclerosis, Alzheimer disease, traumatic brain injury, and stroke. The PBA Registry Series trial was created to measure the prevalence of PBA among patients with these underlying neurological conditions. Through greater awareness, recognition, and diagnosis, treatment for patients with PBA can be improved.

  17. Vaccines for emerging infectious diseases: Lessons from MERS coronavirus and Zika virus.

    PubMed

    Maslow, Joel N

    2017-12-02

    The past decade and a half has been characterized by numerous emerging infectious diseases. With each new threat, there has been a call for rapid vaccine development. Pathogens such as the Middle East Respiratory Syndrome coronavirus (MERS-CoV) and the Zika virus represent either new viral entities or viruses emergent in new geographic locales and characterized by novel complications. Both serve as paradigms for the global spread that can accompany new pathogens. In this paper, we review the epidemiology and pathogenesis of MERS-CoV and Zika virus with respect to vaccine development. The challenges in vaccine development and the approach to clinical trial design to test vaccine candidates for disease entities with a changing epidemiology are discussed.

  18. [Primary perivascular epitheloid cell tumour (PEComa) of the liver - is a new entity of the liver tumors?].

    PubMed

    Panahova, S; Rempp, H; Sipos, B; Malek, N P; Boozari, B

    2015-05-01

    Perivascular epitheloid cell tumor (PEComa) is a rare tumor, characterized by dual Expression of smooth muscle and melanocytic markers. Due to the development of diagnostic procedures, we now diagnose PEComa more often. We report about a case of PEComa of the liver as an accidental finding. We analyze the clinical and morphological characteristics of this tumor and compare it with the data of the literature. Management of patients with PEComa is not yet standardized; therefore biopsy with immunhistochemical staining is necessary for the diagnosis. In case of liver tumors which cannot be classified by their morphology on imaging modalities, it is important to think about this rare entity. © Georg Thieme Verlag KG Stuttgart · New York.

  19. Vaccines for emerging infectious diseases: Lessons from MERS coronavirus and Zika virus

    PubMed Central

    Maslow, Joel N.

    2017-01-01

    ABSTRACT The past decade and a half has been characterized by numerous emerging infectious diseases. With each new threat, there has been a call for rapid vaccine development. Pathogens such as the Middle East Respiratory Syndrome coronavirus (MERS-CoV) and the Zika virus represent either new viral entities or viruses emergent in new geographic locales and characterized by novel complications. Both serve as paradigms for the global spread that can accompany new pathogens. In this paper, we review the epidemiology and pathogenesis of MERS-CoV and Zika virus with respect to vaccine development. The challenges in vaccine development and the approach to clinical trial design to test vaccine candidates for disease entities with a changing epidemiology are discussed. PMID:28846484

  20. Cutaneous silica granuloma. A rare entity or rarely diagnosed Report of two cases with review of the literature

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Mowry, R.G.; Sams, W.M. Jr.; Caulfield, J.B.

    1991-05-01

    Cutaneous silica granuloma is a poorly understood, uncommon condition that may mimic cutaneous sarcoidosis. We describe two cases of this entity and their characteristic latency period (between the time of silica exposure to the time of clinical onset of granuloma). We also review the histologic and energy dispersive x-ray analysis data, which prove the diagnosis. This condition should be recognized as an occupational dermatosis as well as the result of past incidental cuts or abrasions, which result in the development of granulomas, many in old wound scars. Differentiation from cutaneous sarcoidosis is possible with polarized light microscopy and energy-dispersive x-raymore » analysis.15 references.« less

  1. Sorting the Alphabet Soup of Renal Pathology: A Review.

    PubMed

    Curran-Melendez, Sheilah M; Hartman, Matthew S; Heller, Matthew T; Okechukwu, Nancy

    2016-01-28

    Diseases of the kidney often have their names shortened, creating an arcane set of acronyms which can be confusing to both radiologists and clinicians. This review of renal pathology aims to explain some of the most commonly used acronyms within the field. For each entity, a summary of the clinical features, pathophysiology, and radiological findings is included to aid in the understanding and differentiation of these entities. Discussed topics include acute cortical necrosis, autosomal dominant polycystic kidney disease, angiomyolipoma, autosomal recessive polycystic kidney disease, acute tubular necrosis, localized cystic renal disease, multicystic dysplastic kidney, multilocular cystic nephroma, multilocular cystic renal cell carcinoma, medullary sponge kidney, paroxysmal nocturnal hemoglobinuria, renal papillary necrosis, transitional cell carcinoma, and xanthogranulomatous pyelonephritis. Copyright © 2016 Mosby, Inc. All rights reserved.

  2. Working under a clinic-level quality incentive: primary care clinicians' perceptions.

    PubMed

    Greene, Jessica; Kurtzman, Ellen T; Hibbard, Judith H; Overton, Valerie

    2015-01-01

    A key consideration in designing pay-for-performance programs is determining what entity the incentive should be awarded to-individual clinicians or to groups of clinicians working in teams. Some argue that team-level incentives, in which clinicians who are part of a team receive the same incentive based on the team's performance, are most effective; others argue for the efficacy of clinician-level incentives. This study examines primary care clinicians' perceptions of a team-based quality incentive awarded at the clinic level. This research was conducted with Fairview Health Services, where 40% of the primary care compensation model was based on clinic-level quality performance. We conducted 48 in-depth interviews to explore clinicians' perceptions of the clinic-level incentive, as well as an online survey of 150 clinicians (response rate 56%) to investigate which entity the clinicians would consider optimal to target for quality incentives. Clinicians reported the strengths of the clinic-based quality incentive were quality improvement for the team and less patient "dumping," or shifting patients with poor outcomes to other clinicians. The weaknesses were clinicians' lack of control and colleagues riding the coattails of higher performers. There were mixed reports on the model's impact on team dynamics. Although clinicians reported greater interaction with colleagues, some described an increase in tension. Most clinicians surveyed (73%) believed that there should be a mix of clinic and individual-level incentives to maintain collaboration and recognize individual performance. The study highlights the important advantages and disadvantages of using incentives based upon clinic-level performance. Future research should test whether hybrid incentives that mix group and individual incentives can maintain some of the best elements of each design while mitigating the negative impacts. © 2015 Annals of Family Medicine, Inc.

  3. Frontotemporal Dementia

    PubMed Central

    Olney, Nicholas T.; Spina, Salvatore; Miller, Bruce L.

    2017-01-01

    Frontotemporal Dementia (FTD) is a heterogeneous disorder with distinct clinical phenotypes associated with multiple neuropathologic entities. Presently, the term FTD encompasses clinical disorders that include changes in behavior, language, executive control and often motor symptoms. The core FTD spectrum disorders include: behavioral variant FTD (bvFTD), nonfluent/agrammatic variant primary progressive aphasia (nfvPPA), and semantic variant PPA (svPPA). Related FTD disorders include frontotemporal dementia with motor neuron disease (FTD-MND), progressive supranuclear palsy syndrome (PSP-S) and corticobasal syndrome (CBS). In this chapter we will discuss the clinic presentation, diagnostic criteria, neuropathology, genetics and treatments of these disorders. PMID:28410663

  4. Standardization of uveitis nomenclature for reporting clinical data. Results of the First International Workshop.

    PubMed

    Jabs, Douglas A; Nussenblatt, Robert B; Rosenbaum, James T

    2005-09-01

    To begin a process of standardizing the methods for reporting clinical data in the field of uveitis. Consensus workshop. Members of an international working group were surveyed about diagnostic terminology, inflammation grading schema, and outcome measures, and the results used to develop a series of proposals to better standardize the use of these entities. Small groups employed nominal group techniques to achieve consensus on several of these issues. The group affirmed that an anatomic classification of uveitis should be used as a framework for subsequent work on diagnostic criteria for specific uveitic syndromes, and that the classification of uveitis entities should be on the basis of the location of the inflammation and not on the presence of structural complications. Issues regarding the use of the terms "intermediate uveitis," "pars planitis," "panuveitis," and descriptors of the onset and course of the uveitis were addressed. The following were adopted: standardized grading schema for anterior chamber cells, anterior chamber flare, and for vitreous haze; standardized methods of recording structural complications of uveitis; standardized definitions of outcomes, including "inactive" inflammation, "improvement'; and "worsening" of the inflammation, and "corticosteroid sparing," and standardized guidelines for reporting visual acuity outcomes. A process of standardizing the approach to reporting clinical data in uveitis research has begun, and several terms have been standardized.

  5. Familial endocrine myxolentiginosis.

    PubMed

    Panossian, D H; Marais, G E; Marais, H J

    1995-11-01

    We present an unusual case of a left atrial myxoma as a feature of a familial mesoectodermal disorder and review the literature. The new term "familial endocrine myxolentiginosis" is proposed, which is descriptive of the major clinical components of the syndrome. Myriad features of this disorder include (1) cardiac myxomas; (2) cutaneous myxomas; (3) multiple lentigines or blue nevi, particularly of the head and neck; (4) bilateral primary pigmented nodular adrenocortical hyperplasia; (5) unusual testicular tumors; (6) pituitary tumors; (7) myxoid fibroadenomas of the breast; (8) myxomatous disorder of the stroma of the breast; (9) ductal adenoma of the breast; and (10) psammomatous melanotic schwannoma. A tentative diagnosis is suggested by identifying two features and a definitive diagnosis is made by three or more features. The clinical and pathologic features of cardiac myxoma in familial endocrine myxolentiginosis are identical to those of familial cardiac myxoma: age < 40 years, atypical locations, multicentric origins, and recurrent presentations. A Venn diagram classification for cardiac myxomas is proposed. We include photographic, echocardiographic, biopsy, and adrenal computerized tomography documentation in our patient. Recognition of this disorder is important because of its clinical, surgical, and genetic implications. The availability of transesophageal echocardiographic technology should allow early diagnosis of this underdiagnosed entity. Clinicians should consider this entity in the differential diagnosis of their patients with any one of these manifestations.

  6. Idiopathic Juxtafoveolar Retinal Telangiectasis: A Current Review

    PubMed Central

    Nowilaty, Sawsan R.; Al-Shamsi, Hanan N.; Al-Khars, Wajeeha

    2010-01-01

    Idiopathic juxtafoveolar retinal telangiectasis (IJFT), also known as parafoveal telangiectasis or idiopathic macular telangiectasia, refers to a heterogeneous group of well-recognized clinical entities characterized by telangiectatic alterations of the juxtafoveolar capillary network of one or both eyes, but which differ in appearance, presumed pathogenesis, and management strategies. Classically, three groups of IJFT are identified. Group I is unilateral easily visible telangiectasis occurring predominantly in males, and causing visual loss as a result of macular edema. Group II, the most common, is bilateral occurring in both middle-aged men and women, and presenting with telangiectasis that is more difficult to detect on biomicroscopy, but with characteristic and diagnostic angiographic and optical coherence tomography features. Vision loss is due to retinal atrophy, not exudation, and subretinal neovascularization is common. Group III is very rare characterized predominantly by progressive obliteration of the perifoveal capillary network, occurring usually in association with a medical or neurologic disease. This paper presents a current review of juxtafoveolar retinal telangiectasis, reviewing the classification of these entities and focusing primarily on the two most common types encountered in clinical practice, i.e., groups I and II, describing their clinical features, histopathology, natural history, complications, latest results from imaging modalities and functional studies, differential diagnosis, and treatment modalities. PMID:20844678

  7. Visual impairment caused by periorbital edema in an infant with acute hemorrhagic edema of infancy.

    PubMed

    Freitas, Priscila; Bygum, Anette

    2013-01-01

    Acute hemorrhagic edema of infancy (AHEI) is a cutaneous vasculitis seen in children. Many consider it to be a clinical variant of Schönlein-Henoch purpura, but others regard it as a separate entity because of its benign nature, age of onset, lack of visceral involvement, and frequent absence of vascular immunoglobulin A deposition. It is clinically characterized by large "cockade" or rosette-shaped, annular, purpuric lesions involving the face and extremities; erythematous edema; and mild fever. It seems to appear secondary to a history of viral or bacterial infection, course of antibiotics, or vaccination. Because of the unknown etiology and benign character, which leads to spontaneous complete recovery, there is no specific treatment necessary for AHEI, and according to the literature, systemic corticosteroids do not seem to alter the course of the disease. We report the case of an 11-month-old boy who manifested massive periorbital edema along with all of the clinical characteristics of this entity and showed clear improvement of the symptoms after a 24-hour administration of systemic corticosteroid therapy. Given the positive effect of this therapy, we propose that systemic corticosteroids should be used to ameliorate the acute manifestations and avoid the rapid progression of the disease. © 2012 Wiley Periodicals, Inc.

  8. Clinical manifestations of trisomy 4p syndrome.

    PubMed

    Patel, S V; Dagnew, H; Parekh, A J; Koenig, E; Conte, R A; Macera, M J; Verma, R S

    1995-06-01

    Trisomy 4p syndrome is a distinct clinical entity which was noted almost a quarter century ago by Wilson et al. [71] and later was delineated by Gonzalez and colleagues [29]. The variation in the length of duplicated segment usually associated with monosomy of other genetic material which has resulted in confusion and as a result a so-called 4p syndrome could not be recognized without cytogenetic analysis. We wish to draw the attention of clinicians to this subject by presenting the description of over 75 cases including one from our clinic and stress the point that molecular approaches are imperative to characterize this anomaly. After extensive review, it appears that patients retaining at least the distal two-thirds to the entire short arm share an overlapping phenotypic expression that constitutes pure trisomy 4p syndrome which includes prominent glabella, bulbous nose with flat or depressed nasal bridge, retrognathia, pointed chin, short neck with low hairline, enlarged ears with abnormal helix and antihelix, rocker-bottom feet with prominent heel. Arachnodactyly and camptodactyly. Molecular characterization of 4p is imperative. We have also included an extensive bibliography for clinicians who may find it useful as a single reference source for evaluating their future cases. The 4p-syndrome is a distinct entity but without cytogenetic evaluation, the syndrome can not be recognized.

  9. Delusions with religious content in patients with psychosis: how they interact with spiritual coping.

    PubMed

    Mohr, Sylvia; Borras, Laurence; Betrisey, Carine; Pierre-Yves, Brandt; Gilliéron, Christiane; Huguelet, Philippe

    2010-01-01

    Delusions with religious content have been associated with a poorer prognosis in schizophrenia. Nevertheless, positive religious coping is frequent among this population and is associated with a better outcome. The aim of this study was to compared patients with delusions with religious content (n = 38), patients with other sorts of delusions (n = 85) and patients without persistent positive symptoms (n = 113) clinically and spiritually. Outpatients (n = 236) were randomly selected for a quantitative and qualitative evaluation of religious coping. Patients presenting delusions with religious content were not associated with a more severe clinical status compared to other deluded patients, but they were less likely to adhere to psychiatric treatment. For almost half of the group (45%), spirituality and religiousness helped patients cope with their illness. Delusional themes consisted of: persecution (by malevolent spiritual entities), influence (being controlled by spiritual entities), and self-significance (delusions of sin/guilt or grandiose delusions). Both groups of deluded patients valued religion more than other patients, but patients presenting delusions with religious content received less support from religious communities. In treating patients with such symptoms, clinicians should go beyond the label of "religious delusion," likely to involve stigmatization, by considering how delusions interact with patients' clinical and psychosocial context.

  10. Granular cell tumour of the neurohypophysis: an unusual cause of hypopituitarism.

    PubMed

    Bello, Carlos Tavares; Cipriano, Patricia; Henriques, Vanessa; Duarte, João Sequeira; Marques, Conceição Canas

    2018-01-01

    Granular cell tumours (GCT) are rare, slow-growing, benign neoplasms that are usually located in the head and neck. They are more frequent in the female gender and typically have an asymptomatic clinical course, being diagnosed only at autopsy. Symptomatic GCT of the neurohypophysis are exceedingly rare, being less than 70 cases described so far. The authors report on a case of a 28-year-old male that presented to the Endocrinology clinic with clinical and biochemical evidence of hypogonadism. He also reported minor headaches without any major visual symptoms. Further laboratory tests confirmed hypopituitarism (hypogonadotrophic hypogonadism, central hypothyroidism and hypocortisolism) and central nervous system imaging revealed a pituitary macroadenoma. The patient underwent transcranial pituitary adenoma resection and the pathology report described a GCT of the neurohypophysis with low mitotic index. The reported case is noteworthy for the rarity of the clinicopathological entity. Symptomatic GCTs are rare CNS tumours whose cell of origin is not well defined that usually give rise to visual symptoms, headache and endocrine dysfunction.Imaging is quite unspecific and diagnosis is difficult to establish preoperatively.Surgical excision is challenging due to lesion's high vascularity and propensity to adhere to adjacent structures.The reported case is noteworthy for the rarity of the clinicopathological entity.

  11. Pellagra-like condition is xeroderma pigmentosum/Cockayne syndrome complex and niacin confers clinical benefit.

    PubMed

    Hijazi, H; Salih, M A; Hamad, M H A; Hassan, H H; Salih, S B M; Mohamed, K A; Mukhtar, M M; Karrar, Z A; Ansari, S; Ibrahim, N; Alkuraya, F S

    2015-01-01

    An extremely rare pellagra-like condition has been described, which was partially responsive to niacin and associated with a multisystem involvement. The condition was proposed to represent a novel autosomal recessive entity but the underlying mutation remained unknown for almost three decades. The objective of this study was to identify the causal mutation in the pellagra-like condition and investigate the mechanism by which niacin confers clinical benefit. Autozygosity mapping and exome sequencing were used to identify the causal mutation, and comet assay on patient fibroblasts before and after niacin treatment to assess its effect on DNA damage. We identified a single disease locus that harbors a novel mutation in ERCC5, thus confirming that the condition is in fact xeroderma pigmentosum/Cockayne syndrome (XP/CS) complex. Importantly, we also show that the previously described dermatological response to niacin is consistent with a dramatic protective effect against ultraviolet-induced DNA damage in patient fibroblasts conferred by niacin treatment. Our findings show the power of exome sequencing in reassigning previously described novel clinical entities, and suggest a mechanism for the dermatological response to niacin in patients with XP/CS complex. This raises interesting possibilities about the potential therapeutic use of niacin in XP. © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  12. Pleuroparenchymal fibroelastosis: is it also an idiopathic entity?

    PubMed

    Portillo, Karina; Guasch Arriaga, Ignasi; Ruiz-Manzano, Juan

    2015-10-01

    Pleuroparenchymal fibroelastosis (PPFE) is a rare disease that has been recently included in the updated consensus on idiopathic interstitial pneumonias. It shares some clinical features with other chronic interstitial pneumonias (dyspnea, dry cough), and is radiologically characterized by pleural and subpleural parenchymal fibrosis and elastosis, mainly in the upper lobes. The main histological findings include pleural fibrosis and prominent subpleural and parenchymal fibroelastosis. Its characterization is based on the increasing number of cases reported in the literature, so several aspects of the etiology, pathogenesis and natural history are still unknown. Although some cases have been described as idiopathic, PPFE has been reported as a complication after bone marrow transplantation, lung transplantation and chemotherapy, especially with alkylating agents.Spontaneous or iatrogenic pneumothorax is a frequently reported complication of invasive diagnostic tests for identifying PPFE. The disease course is variable, ranging from slow progression to rapid clinical deterioration. No treatment has shown evidence of efficacy, and lung transplantation remains the only option for patients who fulfill the diagnostic criteria for this option. Recognizing and disseminating the specific features of PPFE is essential to raise the level of clinical suspicion for this entity, and to implement appropriate multidisciplinary diagnostic management. Copyright © 2015 SEPAR. Published by Elsevier Espana. All rights reserved.

  13. Treatment of Chronic Migraine with OnabotulinumtoxinA: Mode of Action, Efficacy and Safety.

    PubMed

    Szok, Délia; Csáti, Anett; Vécsei, László; Tajti, János

    2015-07-17

    Chronic migraine is a common, highly disabling, underdiagnosed and undertreated entity of migraine. It affects 0.9%-2.2% of the general adult population. The present paper overviews the preclinical and clinical data regarding the therapeutic effect of onabotulinumtoxinA in chronic migraineurs. A literature search was conducted in the database of PubMed up to 20 May 2015 for articles related to the pathomechanism of chronic migraine, the mode of action, and the efficacy, safety and tolerability of onabotulinumtoxinA for the preventive treatment of chronic migraine. The pathomechanism of chronic migraine has not been fully elucidated. The mode of action of onabotulinumtoxinA in the treatment of chronic migraine is suggested to be related to the inhibition of the release of calcitonin gene-related peptide and substance P in the trigeminovascular system. Randomized clinical trials demonstrated that long-term onabotulinumtoxinA fixed-site and fixed-dose (155-195 U) intramuscular injection therapy was effective and well tolerated for the prophylactic treatment of chronic migraine. Chronic migraine is a highly devastating entity of migraine. Its exact pathomechanism is unrevealed. Two-third of chronic migraineurs do not receive proper preventive medication. Recent clinical studies revealed that onabotulinumtoxinA was an efficacious and safe treatment for chronic migraine.

  14. Treatment of Chronic Migraine with OnabotulinumtoxinA: Mode of Action, Efficacy and Safety

    PubMed Central

    Szok, Délia; Csáti, Anett; Vécsei, László; Tajti, János

    2015-01-01

    Background: Chronic migraine is a common, highly disabling, underdiagnosed and undertreated entity of migraine. It affects 0.9%–2.2% of the general adult population. The present paper overviews the preclinical and clinical data regarding the therapeutic effect of onabotulinumtoxinA in chronic migraineurs. Methods: A literature search was conducted in the database of PubMed up to 20 May 2015 for articles related to the pathomechanism of chronic migraine, the mode of action, and the efficacy, safety and tolerability of onabotulinumtoxinA for the preventive treatment of chronic migraine. Results: The pathomechanism of chronic migraine has not been fully elucidated. The mode of action of onabotulinumtoxinA in the treatment of chronic migraine is suggested to be related to the inhibition of the release of calcitonin gene-related peptide and substance P in the trigeminovascular system. Randomized clinical trials demonstrated that long-term onabotulinumtoxinA fixed-site and fixed-dose (155–195 U) intramuscular injection therapy was effective and well tolerated for the prophylactic treatment of chronic migraine. Conclusions: Chronic migraine is a highly devastating entity of migraine. Its exact pathomechanism is unrevealed. Two-third of chronic migraineurs do not receive proper preventive medication. Recent clinical studies revealed that onabotulinumtoxinA was an efficacious and safe treatment for chronic migraine. PMID:26193319

  15. A "building block" approach to application development for education and decision support in radiology: implications for integrated clinical information systems environments.

    PubMed

    Greenes, R A

    1991-11-01

    Education and decision-support resources useful to radiologists are proliferating for the personal computer/workstation user or are potentially accessible via high-speed networks. These resources are typically made available through a set of application programs that tend to be developed in isolation and operate independently. Nonetheless, there is a growing need for an integrated environment for access to these resources in the context of professional work, during clinical problem-solving and decision-making activities, and for use in conjunction with other information resources. New application development environments are required to provide these capabilities. One such architecture for applications, which we have implemented in a prototype environment called DeSyGNER, is based on separately delineating the component information resources required for an application, termed entities, and the user interface and organizational paradigms, or composition methods, by which the entities are used to provide particular kinds of capability. Examples include composition methods to support query, book browsing, hyperlinking, tutorials, simulations, or question/answer testing. Future steps must address true integration of such applications with existing clinical information systems. We believe that the most viable approach for evolving this capability is based on the use of new software engineering methodologies, open systems, client-server communication, and delineation of standard message protocols.

  16. Non-Radiation-Related Osteonecrosis of the Jaws in Dogs: 14 Cases (1996–2014)

    PubMed Central

    Peralta, Santiago; Arzi, Boaz; Nemec, Ana; Lommer, Milinda J.; Verstraete, Frank J. M.

    2015-01-01

    Osteonecrosis of the jaws (ONJ) is an entity of major clinical impact characterized by chronically exposed necrotic mandibular or maxillary bone. Its clinicopathological characteristics and possible inciting or risk factors are well described in humans but only anecdotally reported in dogs. Treatment modalities and outcome vary depending on the inciting factors involved and the extent and severity of the lesions. The objectives of this study were to retrospectively describe the clinicopathological features of non-radiation-related ONJ in a series of 14 dogs, identify possible inciting or risk factors, and report on the surgical treatment and outcome. For all patients, the medical records were used to collect information regarding signalment, clinical signs, characteristics of the oral, jaw and dental lesions, diagnostic imaging findings, histopathological and microbiological analysis, treatment performed, and outcome. The data collected showed that non-radiation-related ONJ appears to be an infrequent clinical entity but of significant impact in dogs; that a history of systemic antibiotics and dental disease is common among affected dogs; that previous dental extractions are commonly associated with ONJ sites; that using a systematic diagnostic approach is essential for diagnosis; and that thorough surgical debridement combined with a course of oral antibiotics was effective in the described dogs affected by advanced non-radiation-related ONJ. PMID:26664936

  17. Nijmegen breakage syndrome.

    PubMed Central

    van der Burgt, I; Chrzanowska, K H; Smeets, D; Weemaes, C

    1996-01-01

    Nijmegen breakage syndrome (NBS), a rare autosomal recessive condition also known as ataxia telangiectasia (AT) variants V1 and V2, is characterised by microcephaly, typical facies, short stature, immunodeficiency, and chromosomal instability. We report the clinical, immunological, chromosomal, and cell biological findings in 42 patients who are included in the NBS Registry in Nijmegen. The immunological, chromosomal, and cell biological findings resemble those in AT, but the clinical findings are quite different. NBS appears to be a separate entity not allelic with AT. Images PMID:8929954

  18. [Non-autoimmune thyroiditis].

    PubMed

    Rizzo, Leonardo F L; Mana, Daniela L; Bruno, Oscar D

    2014-01-01

    The term thyroiditis comprises a group of thyroid diseases characterized by the presence of inflammation, including autoimmune and non-autoimmune entities. It may manifest as an acute illness with severe thyroid pain (subacute thyroiditis and infectious thyroiditis), and conditions in which the inflammation is not clinically evident evolving without pain and presenting primarily thyroid dysfunction and/or goiter (drug-induced thyroiditis and Riedel thyroiditis). The aim of this review is to provide an updated approach on non-autoimmune thyroiditis and its clinical, diagnostic and therapeutic aspects.

  19. Facial diplegia: a clinical dilemma.

    PubMed

    Chakrabarti, Debaprasad; Roy, Mukut; Bhattacharyya, Amrit K

    2013-06-01

    Bilateral facial paralysis is a rare clinical entity and presents as a diagnostic challenge. Unlike its unilateral counterpart facial diplegia is seldom secondary to Bell's palsy. Occurring at a frequency of 0.3% to 2% of all facial palsies it often indicates ominous medical conditions. Guillian-Barre syndrome needs to be considered as a differential in all given cases of facial diplegia where timely treatment would be rewarding. Here a case of bilateral facial palsy due to Guillian-Barre syndrome with atypical presentation is reported.

  20. Cholangiocarcinoma: classification, diagnosis, staging, imaging features, and management.

    PubMed

    Oliveira, Irai S; Kilcoyne, Aoife; Everett, Jamie M; Mino-Kenudson, Mari; Harisinghani, Mukesh G; Ganesan, Karthik

    2017-06-01

    Cholangiocarcinoma is a relatively uncommon malignant neoplasm with poor prognosis. The distinction between extrahepatic and intrahepatic subtypes is important as epidemiological features, biologic and pathologic characteristics, and clinical course are different for both entities. This review study focuses on the role imaging plays in the diagnosis, classification, staging, and post-treatment assessment of cholangiocarcinoma.

Top