Rare diseases in the media - Report April-June 2014 - Observatory for Rare Diseases FEDER (OBSER

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Josep Solves Almela

2015-12-01

Full Text Available This report presents the analysis of how Spanish mass media dealt with the so-called rare deseases during the months of April, May and June of 2014. The report has the same general objective of the first one for the previous three months: understand how rare diseases are presented in the Spanish media and, correspondingly, how that media representation evolves. In this report, the data of the first trimester is compared to the second one.

[Electronic cigarettes - effects on health. Previous reports].

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Napierała, Marta; Kulza, Maksymilian; Wachowiak, Anna; Jabłecka, Katarzyna; Florek, Ewa

2014-01-01

Currently very popular in the market of tobacco products have gained electronic cigarettes (ang. E-cigarettes). These products are considered to be potentially less harmful in compared to traditional tobacco products. However, current reports indicate that the statements of the producers regarding to the composition of the e- liquids not always are sufficient, and consumers often do not have reliable information on the quality of the product used by them. This paper contain a review of previous reports on the composition of e-cigarettes and their impact on health. Most of the observed health effects was related to symptoms of the respiratory tract, mouth, throat, neurological complications and sensory organs. Particularly hazardous effects of the e-cigarettes were: pneumonia, congestive heart failure, confusion, convulsions, hypotension, aspiration pneumonia, face second-degree burns, blindness, chest pain and rapid heartbeat. In the literature there is no information relating to passive exposure by the aerosols released during e-cigarette smoking. Furthermore, the information regarding to the use of these products in the long term are not also available.

Incentives for reporting disease outbreaks.

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Ramanan Laxminarayan

Full Text Available BACKGROUND: Countries face conflicting incentives to report infectious disease outbreaks. Reports of outbreaks can prompt other countries to impose trade and travel restrictions, which has the potential to discourage reporting. However, reports can also bring medical assistance to contain the outbreak, including access to vaccines. METHODS: We compiled data on reports of meningococcal meningitis to the World Health Organization (WHO from 54 African countries between 1966 and 2002, a period is marked by two events: first, a large outbreak reported from many countries in 1987 associated with the Hajj that resulted in more stringent requirements for meningitis vaccination among pilgrims; and second, another large outbreak in Sub-Saharan Africa in 1996 that led to a new international mechanism to supply vaccines to countries reporting a meningitis outbreak. We used fixed-effects regression modeling to statistically estimate the effect of external forcing events on the number of countries reporting cases of meningitis to WHO. FINDINGS: We find that the Hajj vaccination requirements started in 1988 were associated with reduced reporting, especially among countries with relatively fewer cases reported between 1966 and 1979. After the vaccine provision mechanism was in place in 1996, reporting among countries that had previously not reported meningitis outbreaks increased. INTERPRETATION: These results indicate that countries may respond to changing incentives to report outbreaks when they can do so. In the long term, these incentives are likely to be more important than surveillance assistance in prompt reporting of outbreaks.

Gaucher's disease in a black child in South Africa. A case report.

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Patel, R; MacDougall, L G

1984-09-01

A 7-year-old Black boy presented with massive splenomegaly and a tendency to haemorrhage due to type 1 Gaucher's disease. After splenectomy he became asymptomatic and the haematological parameters returned to normal. Although type 1 Gaucher's disease has been described in adult Blacks, it has not been reported previously in a Black child in southern Africa.

Moyamoya disease in a child with previous acute necrotizing encephalopathy

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Kim, Taik-Kun; Cha, Sang Hoon; Chung, Kyoo Byung; Kim, Jung Hyuck; Kim, Baek Hyun; Chung, Hwan Hoon [Department of Diagnostic Radiology, Korea University College of Medicine, Ansan Hospital, 516 Kojan-Dong, Ansan City, Kyungki-Do 425-020 (Korea); Eun, Baik-Lin [Department of Pediatrics, Korea University College of Medicine, Seoul (Korea)

2003-09-01

A previously healthy 24-day-old boy presented with a 2-day history of fever and had a convulsion on the day of admission. MRI showed abnormal signal in the thalami, caudate nuclei and central white matter. Acute necrotising encephalopathy was diagnosed, other causes having been excluded after biochemical and haematological analysis of blood, urine and CSF. He recovered, but with spastic quadriparesis. At the age of 28 months, he suffered sudden deterioration of consciousness and motor weakness of his right limbs. MRI was consistent with an acute cerebrovascular accident. Angiography showed bilateral middle cerebral artery stenosis or frank occlusion with numerous lenticulostriate collateral vessels consistent with moyamoya disease. (orig.)

Targeting Alzheimer's disease by investigating previously unexplored chemical space surrounding the cholinesterase inhibitor donepezil

CSIR Research Space (South Africa)

Van Greunen, DG

2017-02-01

Full Text Available A series of twenty seven acetylcholinesterase inhibitors, as potential agents for the treatment of Alzheimer's disease, were designed and synthesised based upon previously unexplored chemical space surrounding the molecular skeleton of the drug...

Previously unreported abnormalities in Wolfram Syndrome Type 2.

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Akturk, Halis Kaan; Yasa, Seda

2017-01-01

Wolfram syndrome (WFS) is a rare autosomal recessive disease with non-autoimmune childhood onset insulin dependent diabetes and optic atrophy. WFS type 2 (WFS2) differs from WFS type 1 (WFS1) with upper intestinal ulcers, bleeding tendency and the lack ofdiabetes insipidus. Li-fespan is short due to related comorbidities. Only a few familieshave been reported with this syndrome with the CISD2 mutation. Here we report two siblings with a clinical diagnosis of WFS2, previously misdiagnosed with type 1 diabetes mellitus and diabetic retinopathy-related blindness. We report possible additional clinical and laboratory findings that have not been pre-viously reported, such as asymptomatic hypoparathyroidism, osteomalacia, growth hormone (GH) deficiency and hepatomegaly. Even though not a requirement for the diagnosis of WFS2 currently, our case series confirm hypogonadotropic hypogonadism to be also a feature of this syndrome, as reported before. © Polish Society for Pediatric Endocrinology and Diabetology.

Eosinophilic Gastrointestinal Disorder in Coeliac Disease: A Case Report and Review

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Dennis N. F. Lim

2012-01-01

Full Text Available Eosinophilic gastrointestinal disorder is a rare disorder characterised by eosinophilic infiltration of the gastrointestinal tract. There are various gastrointestinal manifestations with eosinophilic ascites being the most unusual and rare presentation. Diagnosis requires high index of suspicion and exclusion of various disorders associated with peripheral eosinophilia. There are no previous case reports to suggest an association between eosinophilic gastrointestinal disorder and coeliac disease in adults. We report a case of eosinophilic ascites and gastroenteritis in a 30-year-old woman with a known history of coeliac disease who responded dramatically to a course of steroids.

Association of Aortic Valve Sclerosis with Previous Coronary Artery Disease and Risk Factors

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Filipe Carvalho Marmelo

2014-11-01

Full Text Available Background: Aortic valve sclerosis (AVS is characterized by increased thickness, calcification and stiffness of the aortic leaflets without fusion of the commissures. Several studies show an association between AVS and presence of coronary artery disease. Objective: The aim of this study is to investigate the association between presence of AVS with occurrence of previous coronary artery disease and classical risk factors. Methods: The sample was composed of 2,493 individuals who underwent transthoracic echocardiography between August 2011 and December 2012. The mean age of the cohort was 67.5 ± 15.9 years, and 50.7% were female. Results: The most frequent clinical indication for Doppler echocardiography was the presence of stroke (28.8%, and the most common risk factor was hypertension (60.8%. The most prevalent pathological findings on Doppler echocardiography were mitral valve sclerosis (37.1% and AVS (36.7%. There was a statistically significant association between AVS with hypertension (p < 0.001, myocardial infarction (p = 0.007, diabetes (p = 0.006 and compromised left ventricular systolic function (p < 0.001. Conclusion: Patients with AVS have higher prevalences of hypertension, stroke, hypercholesterolemia, myocardial infarction, diabetes and compromised left ventricular systolic function when compared with patients without AVS. We conclude that there is an association between presence of AVS with previous coronary artery disease and classical risk factors.

Patterns of presentation of chronic ischemic heart disease with and without previous myocardial infarction

International Nuclear Information System (INIS)

Ahmad, R.; Rabbani, A.; Awan, Z.A.

2009-01-01

The prevalence of Ischemic Heart Disease (IHD) is on the rise, from increasing lifespan of population and availability of better medical facilities. We studied chronic IHD cases with and without previous myocardial infarction, in Hazara, NWFP, Pakistan to evaluate left ventricular (LV) dysfunction, wall motion abnormalities and complications of IHD. All patients presenting with history of chest pain in Medical 'C' Unit, Ayub Teaching Hospital, Abbottabad from June 2004 to May 2005 were included in the study. Patients with non-cardiac chest pain were excluded from the study. Cases with congenital and rheumatic heart disease, cardiomyopathies, unstable angina and acute MI were excluded. Patients with IHD with or without myocardial infarction (MI) were studied for left ventricular dysfunction (ejection fraction, left atrial size, E/A ratio), wall motion abnormalities and complications of IHD (Mitral regurgitation, Ventricular Septal Defect (VSD), LV aneurysm, LV clot). Clinical and echocardiographic evaluation was done in each case. Out of 183 cases of chronic IHD, 123 patients were without previous MI and 60 had had previous MI. Ejection fraction (EF) was 45%+-15 in the group without MI and 35+-11% in cases with MI. Left Atrium (LA) size was 35+-6 mm and 39+-4 mm in the two groups respectively. LV diastolic dysfunction was seen in 17% in the first and 24% in the second group respectively. Global hypokinesia was seen in 8% and 17% in the 2 groups respectively. Regional Wall Motion Abnormality (RWMA) was observed in 12% in patients without MI and in 58% cases with MI. Mitral regurgitation was seen in 10 and 20% in the 2 groups respectively LV clots, VSD, LV and aneurysm were seen in 8.4, 5, and 6.5% respectively, only in cases with previous MI. LV dysfunction, wall motion abnormalities and mitral regurgitation were more common in IHD cases with previous heart attack. (author)

Squamous cell carcinoma arising in previously burned or irradiated skin

International Nuclear Information System (INIS)

Edwards, M.J.; Hirsch, R.M.; Broadwater, J.R.; Netscher, D.T.; Ames, F.C.

1989-01-01

Squamous cell carcinoma (SCC) arising in previously burned or irradiated skin was reviewed in 66 patients treated between 1944 and 1986. Healing of the initial injury was complicated in 70% of patients. Mean interval from initial injury to diagnosis of SCC was 37 years. The overwhelming majority of patients presented with a chronic intractable ulcer in previously injured skin. The regional relapse rate after surgical excision was very high, 58% of all patients. Predominant patterns of recurrence were in local skin and regional lymph nodes (93% of recurrences). Survival rates at 5, 10, and 20 years were 52%, 34%, and 23%, respectively. Five-year survival rates in previously burned and irradiated patients were not significantly different (53% and 50%, respectively). This review, one of the largest reported series, better defines SCC arising in previously burned or irradiated skin as a locally aggressive disease that is distinct from SCC arising in sunlight-damaged skin. An increased awareness of the significance of chronic ulceration in scar tissue may allow earlier diagnosis. Regional disease control and survival depend on surgical resection of all known disease and may require radical lymph node dissection or amputation

'Cherry red spot' in a patient with Tay-Sachs disease: case report.

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Aragão, Ricardo Evangelista Marrocos de; Ramos, Régia Maria Gondim; Pereira, Felipe Bezerra Alves; Bezerra, Andreya Ferreira Rodrigues; Fernandes, Daniel Nogueira

2009-01-01

Tay-Sachs disease is an autosomal recessive disorder of sphingolipid metabolism, caused by enzyme hexosaminidase A deficiency that leads to an accumulation of GM2 in neurocytes which results in progressive loss of neurological function. The accumulation of lipid in retinal ganglion cells that leads to a chalk-white appearance of the fundus called 'cherry red spot' is the hallmark of Tay-Sachs disease. It is also seen in others neurometabolic diseases as well as in central retinal artery occlusion. This case reports a child with Tay-Sachs disease in a family with four previous similar deaths without diagnostic.

Pulmonary Aspergillosis in a Previously Healthy 13-Year-Old Boy

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Jonathan H. Rayment

2016-01-01

Full Text Available Chronic granulomatous disease (CGD is a rare, polygenic primary immunodeficiency. In this case report, we describe a previously healthy 13-year-old boy who presented with multifocal pulmonary aspergillosis and was subsequently diagnosed with an autosomal recessive form of chronic granulomatous disease. CGD has a variable natural history and age of presentation and should be considered when investigating a patient with recurrent or severe infections with catalase-positive organisms.

A previously unreported variant of the synostotic sagittal suture: Case report and review of salient literature

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Madison Budinich

2016-12-01

Full Text Available Introduction: Sagittal synostosis is a rare congenital disease caused by the premature fusion of the sagittal suture. Craniosynostosis occurs for a variety of reasons, different for every case, and often the etiology is unclear but the anomaly can frequently be seen as part of Crouzon's or Apert's syndromes. Herein, we discuss a rare case of craniosynostosis where the patient presented with a, to our knowledge, a previously undescribed variant of sagittal synostosis. Case report: A 3-month-old female infant presented to a craniofacial clinic for a consultation regarding an abnormal head shape. Images of the skull were performed, demonstrating that the patient had craniosynostosis. The patient displayed no other significant symptoms besides abnormalities in head shape. The sagittal suture was found to extend into the occipital bone where it was synostotic. Conclusion: To our knowledge, a synostotic sagittal suture has not been reported that extended posteriorly it involve the occipital bone. Those who interpret imaging or operate on this part of the skull should consider such a variation. Keywords: Anatomy, Craniosynostosis, Skull, Malformation, Pediatrics

Self-reported previous knee injury and low knee function increase knee injury risk in adolescent female football.

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Clausen, M B; Tang, L; Zebis, M K; Krustrup, P; Hölmich, P; Wedderkopp, N; Andersen, L L; Christensen, K B; Møller, M; Thorborg, K

2016-08-01

Knee injuries are common in adolescent female football. Self-reported previous knee injury and low Knee injury and Osteoarthritis Outcome Score (KOOS) are proposed to predict future knee injuries, but evidence regarding this in adolescent female football is scarce. The aim of this study was to investigate self-reported previous knee injury and low KOOS subscale score as risk factors for future knee injuries in adolescent female football. A sample of 326 adolescent female football players, aged 15-18, without knee injury at baseline, were included. Data on self-reported previous knee injury and KOOS questionnaires were collected at baseline. Time-loss knee injuries and football exposures were reported weekly by answers to standardized text-message questions, followed by injury telephone interviews. A priori, self-reported previous knee injury and low KOOS subscale scores (female football. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

[Double mutant alleles in the EXT1 gene not previously reported in a teenager with hereditary multiple exostoses].

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Cammarata-Scalisi, Francisco; Cozar, Mónica; Grinberg, Daniel; Balcells, Susana; Asteggiano, Carla G; Martínez-Domenech, Gustavo; Bracho, Ana; Sánchez, Yanira; Stock, Frances; Delgado-Luengo, Wilmer; Zara-Chirinos, Carmen; Chacín, José Antonio

2015-04-01

Hereditary forms of multiple exostoses, now called EXT1/EXT2-CDG within Congenital Disorders of Glycosylation, are the most common benign bone tumors in humans and clinical description consists of the formation of several cartilage-capped bone tumors, usually benign and localized in the juxta-epiphyseal region of long bones, although wide body dissemination in severe cases is not uncommon. Onset of the disease is variable ranging from 2-3 years up to 13-15 years with an estimated incidence ranging from 1/18,000 to 1/50,000 cases in European countries. We present a double mutant alleles in the EXT1 gene not previously reported in a teenager and her family with hereditary multiple exostoses.

Deep brain stimulation of the subthalamic nucleus: effectiveness in advanced Parkinson's disease patients previously reliant on apomorphine

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Varma, T; Fox, S; Eldridge, P; Littlechild, P; Byrne, P; Forster, A; Marshall, A; Cameron, H; McIver, K; Fletcher, N; Steiger, M

2003-01-01

Objectives: To assess the efficacy of bilateral subthalamic nucleus (STN) deep brain stimulation (DBS) in patients with advanced Parkinson's disease previously reliant on apomorphine as their main antiparkinsonian medication.

New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants

DEFF Research Database (Denmark)

Andreasen, Charlotte Hartig; Nielsen, Jonas B; Refsgaard, Lena

2013-01-01

Cardiomyopathies are a heterogeneous group of diseases with various etiologies. We focused on three genetically determined cardiomyopathies: hypertrophic (HCM), dilated (DCM), and arrhythmogenic right ventricular cardiomyopathy (ARVC). Eighty-four genes have so far been associated with these card......Cardiomyopathies are a heterogeneous group of diseases with various etiologies. We focused on three genetically determined cardiomyopathies: hypertrophic (HCM), dilated (DCM), and arrhythmogenic right ventricular cardiomyopathy (ARVC). Eighty-four genes have so far been associated...... with these cardiomyopathies, but the disease-causing effect of reported variants is often dubious. In order to identify possible false-positive variants, we investigated the prevalence of previously reported cardiomyopathy-associated variants in recently published exome data. We searched for reported missense and nonsense...... variants in the NHLBI-Go Exome Sequencing Project (ESP) containing exome data from 6500 individuals. In ESP, we identified 94 variants out of 687 (14%) variants previously associated with HCM, 58 out of 337 (17%) variants associated with DCM, and 38 variants out of 209 (18%) associated with ARVC...

Analysis of 60 706 Exomes Questions the Role of De Novo Variants Previously Implicated in Cardiac Disease

DEFF Research Database (Denmark)

Paludan-Müller, Christian; Ahlberg, Gustav; Ghouse, Jonas

2017-01-01

BACKGROUND: De novo variants in the exome occur at a rate of 1 per individual per generation, and because of the low reproductive fitness for de novo variants causing severe disease, the likelihood of finding these as standing variations in the general population is low. Therefore, this study...... sought to evaluate the pathogenicity of de novo variants previously associated with cardiac disease based on a large population-representative exome database. METHODS AND RESULTS: We performed a literature search for previous publications on de novo variants associated with severe arrhythmias...... trio studies (>1000 subjects). Of the monogenic variants, 11% (23/211) were present in ExAC, whereas 26% (802/3050) variants believed to increase susceptibility of disease were identified in ExAC. Monogenic de novo variants in ExAC had a total allele count of 109 and with ≈844 expected cases in Ex...

Shunt malfunction causing acute neurological deterioration in 2 patients with previously asymptomatic Chiari malformation Type I. Report of two cases.

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Elliott, Robert; Kalhorn, Stephen; Pacione, Donato; Weiner, Howard; Wisoff, Jeffrey; Harter, David

2009-08-01

Patients with symptomatic Chiari malformation Type I (CM-I) typically exhibit a chronic, slowly progressive disease course with evolution of symptoms. However, some authors have reported acute neurological deterioration in the setting of CM-I and acquired Chiari malformations. Although brainstem dysfunction has been documented in patients with CM-II and hydrocephalus or shunt malfunction, to the authors' knowledge only 1 report describing ventriculoperitoneal (VP) shunt malfunction causing neurological deterioration in a patient with CM-I exists. The authors report on their experience with the treatment of previously asymptomatic CM-I in 2 children who experienced quite different manifestations of acute neurological deterioration secondary to VP shunt malfunction. Presumably, VP shunt malfunction created a positive rostral pressure gradient across a stenotic foramen magnum, resulting in tetraparesis from foramen magnum syndrome in 1 patient and acute ataxia and cranial nerve deficits from syringobulbia in the other. Although urgent shunt revisions yielded partial recovery of neurological function in both patients, marked improvement occurred only after posterior fossa decompression.

[Wilson disease. A case report and review of the literature].

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Alva-Moncayo, Edith; Castro-Tarín, María; González-Serrano, Adolfo

2011-01-01

Wilson disease is a problem of cuprum metabolism, with recesive autosomic hereditary transmission and a prevalence of one in 30,000 habitants. The cuprum is deposit in a progressive and irreversible way in the liver and encephalus and it is not liberated with quelant treatment. Neurological manifestations are tremor, disartria, extrapiramidal manifestations or distonia. Ophthalmic exploration shows corneal limb with sign of Kayser-Fleischer. a 15-year-old masculine patient with previous hepatitis outbreak in two times. During the last year he presented distonia, bradicinecious, stiffness and indifference with ictericia. Ophthalmological examination reported Kayser-Fleisher rings. Magnetic resonance of brain showed high dense images in lenticular, pallidus globe and caudate nucleus suggestive of Wilson disease. Ceruloplasmin concentration, cuprum in the liver biopsy confirmed the diagnosis. the importance of the case was the hepatic initial manifestations and two years after presented with inexpressive face, and it was considered a psychiatric disease, but the neurological evaluation and the liver biopsy confirmed the diagnosis of Wilson disease.

Addison's disease secondary to connective tissue diseases: a report of six cases.

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Zhang, Zhuo-li; Wang, Yu; Zhou, Wei; Hao, Yan-jie

2009-04-01

Addison's disease is an autoimmune process. However, Addison's disease associated with connective tissue diseases (CTD) is only occasionally reported. Here, we report six cases of Addison's disease secondary to a variety of CTD, which include systemic lupus erythematosus, Takayasu arteritis, systemic sclerosis, ankylosing spondylitis (AS) and antiphospholipid antibody syndrome. The association of Addison's disease with Takayasu arteritis and AS is reported for the first time. We also found high prevalence of hypothyroidism as concomitant autoimmune disorder. Our case series highlight the autoimmune features of Addison's disease. Therefore, we suggest considering adrenal dysfunction in patients with CTD.

Improved ability of biological and previous caries multimarkers to predict caries disease as revealed by multivariate PLS modelling

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Ericson Thorild

2009-11-01

Full Text Available Abstract Background Dental caries is a chronic disease with plaque bacteria, diet and saliva modifying disease activity. Here we have used the PLS method to evaluate a multiplicity of such biological variables (n = 88 for ability to predict caries in a cross-sectional (baseline caries and prospective (2-year caries development setting. Methods Multivariate PLS modelling was used to associate the many biological variables with caries recorded in thirty 14-year-old children by measuring the numbers of incipient and manifest caries lesions at all surfaces. Results A wide but shallow gliding scale of one fifth caries promoting or protecting, and four fifths non-influential, variables occurred. The influential markers behaved in the order of plaque bacteria > diet > saliva, with previously known plaque bacteria/diet markers and a set of new protective diet markers. A differential variable patterning appeared for new versus progressing lesions. The influential biological multimarkers (n = 18 predicted baseline caries better (ROC area 0.96 than five markers (0.92 and a single lactobacilli marker (0.7 with sensitivity/specificity of 1.87, 1.78 and 1.13 at 1/3 of the subjects diagnosed sick, respectively. Moreover, biological multimarkers (n = 18 explained 2-year caries increment slightly better than reported before but predicted it poorly (ROC area 0.76. By contrast, multimarkers based on previous caries predicted alone (ROC area 0.88, or together with biological multimarkers (0.94, increment well with a sensitivity/specificity of 1.74 at 1/3 of the subjects diagnosed sick. Conclusion Multimarkers behave better than single-to-five markers but future multimarker strategies will require systematic searches for improved saliva and plaque bacteria markers.

Logic of Accounting: The Case of Reporting Previous Options in Norwegian Activation Encounters

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Solberg, Janne

2017-01-01

The article deals with the enactment of client resistance in Norwegian vocational rehabilitation encounters. More specific, a practice here called "reporting previous options" is analyzed by using the resources of ethnomethodological conversation analysis (CA) in five instances as doing some sort of accounting. In response to the…

Granulomatous lobular mastitis: report of a case with previously undescribed histopathological abnormalities.

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Axelsen, R A; Reasbeck, P

1988-10-01

A 41-yr-old multiparous woman presented with a discrete breast lump which proved histologically to be an example of granulomatous lobular mastitis. The clinical and histological features were similar to those noted in previous reports. Additional histological features in the present case were an intense mononuclear cell infiltration of lobular and ductal epithelium, associated with nuclear fragments morphologically suggestive of apoptosis. These appearances, which have not previously been described, are illustrated, together with the more classical features of the condition well demonstrated by the present case. The novel histological features noted here suggest that the development of granulomatous lobular mastitis may be at least in part immunologically mediated, and that the cellular infiltrates seen may be a manifestation of cell-mediated destruction of mammary epithelium.

Parental anxiety associated with Kawasaki disease in previously healthy children.

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Chahal, Nita; Clarizia, Nadia A; McCrindle, Brian W; Boydell, Katherine M; Obadia, Maya; Manlhiot, Cedric; Dillenburg, Rejane; Yeung, Rae S M

2010-01-01

The objective of this study was to explore the lived experience of parents of children diagnosed with Kawasaki disease (KD) and to identify factors associated with increased levels of parental anxiety. Three focus groups were conducted including 25 parents of 17 patients with KD, seven (41%) of whom had coronary artery complications. A conceptual model was developed to depict parental experiences and illustrate the key issues related to heightened anxiety. Themes identified included anxiety related to the child's sudden illness and delay in obtaining a correct diagnosis because of the lack of health care providers' awareness and knowledge regarding KD. Parents were frustrated by the lack of information available in lay language and the limited scientific knowledge regarding the long-term consequences of the disease. Parents also reported positive transformations and different perspective toward challenges in life. However, the parents of children with coronary artery complications expressed persistent anxiety even years after the acute phase of the illness due to the uncertainty of the long-term prognosis. There remains a critical need for richly textured research data on the perspective and experience of families of children with KD. Copyright 2010 National Association of Pediatric Nurse Practitioners. Published by Mosby, Inc. All rights reserved.

Case report of Lewy body disease mimicking Creutzfeldt-Jakob disease in a 44-year-old man.

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Saint-Aubert, Laure; Pariente, Jérémie; Dumas, Herve; Payoux, Pierre; Brandel, Jean-Philippe; Puel, Michèle; Vital, Anne; Guedj, Eric; Lesage, Suzanne; Peoc'h, Katell; Brefel Courbon, Christine; Ory Magne, Fabienne

2016-07-30

Few patients are reported with dementia with Lewy bodies before fifty years-old, which may partly reflect the difficulty of accurate diagnosis in young population. We report the case of a 44-year-old male with pathologically confirmed sporadic dementia with Lewy bodies, who did not fulfil the revised clinical criteria for this disease. We document this atypical case with clinical and cognitive evaluation, imaging, biochemistry, genetics and pathology investigations. Creutzfeldt-Jakob disease was first suspected in this patient with no previous medical history, who developed acute and rapid cognitive impairment, L-dopa-non-responsive parkinsonism, and delusion. Positive 14-3-3 protein was initially detected in cerebrospinal fluid and until the late stages of the disease. Severe atrophy with no diffusion hypersignal was found on structural MRI as well as an extensive hypometabolism on (18)F-FDG-PET, in comparison to age-matched healthy volunteers. Genetic investigation found no alpha-synuclein gene mutation. The patient died within 5 years, and post-mortem examination found numerous Lewy bodies and Lewy neurites consistent with pure Lewy body disease. This comprehensively described case illustrates that dementia with Lewy bodies can occur in young patients with atypical clinical presentation. Biochemistry and neuroimaging investigations can sometimes be insufficient to allow accurate diagnostic. More specific markers to support such diagnosis are needed.

Lung cancer in Hodgkin's disease: association with previous radiotherapy

International Nuclear Information System (INIS)

List, A.F.; Doll, D.C.; Greco, F.A.

1985-01-01

Seven cases of lung cancer were observed in patients with Hodgkin's disease (HD) since 1970. The risk ratio for the development of lung cancer among HD patients was 5.6 times that expected in the general population. The pertinent clinical data from these patients are described and compared to 28 additional patients reported from other institutions. Small-cell lung cancer represented the predominant histologic type of lung cancer encountered in both smoking and nonsmoking patients with HD, accounting for 42% of cases overall and greater than 55% of cases reported in reviews of second malignancies. Tobacco use was noted in only 53% of patients. Twenty-eight (94%) of 30 patients developing metachronous lung cancer received supradiaphragmatic irradiation as primary therapy for HD. Nineteen (68%) of these patients received subsequent chemotherapy salvage. The median age at diagnosis of HD and lung cancer was 39 and 45 years, respectively. The interval between diagnosis of HD and metachronous lung cancer averaged seven years but appeared to vary inversely with age. HD patients treated with supradiaphragmatic irradiation or combined modality therapy may be at increased risk for developing lung cancer. The high frequency of in-field malignancies that the authors observed and the prevalence of small-cell lung cancer in both smoking and nonsmoking patients suggests that chest irradiation may influence the development of metachronous lung cancer in these patients. The finding of a mean latent interval in excess of seven years emphasizes the need for close long-term observation

Thiopurines, a previously unrecognised cause for fatigue in patients with inflammatory bowel disease.

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Lee, Thomas W T; Iser, John H; Sparrow, Miles P; Newnham, Evan D; Headon, Belinda J; Gibson, Peter R

2009-09-01

Active inflammatory bowel disease, anaemia, iron deficiency and depression, alone or in combination, are known contributing factors of fatigue in inflammatory bowel disease. However, in some patients, fatigue cannot be attributed to known causes. Thiopurines are not a recognized cause. To describe the clinical scenario of a series of patients where thiopurines were the likely cause of fatigue. The clinical scenario of 5 patients was examined with specific reference to the temporal association of thiopurine therapy with fatigue, the effect of its withdrawal and rechallenge, and drug specificity. The onset of severe fatigue was related to the introduction of azathioprine or 6-mercaptopurine, rapid relief was experienced on its withdrawal in all patients, and fatigue rapidly occurred on rechallenge. The speed of onset was rapid in two patients and in the context of gradual withdrawal of moderate steroid dose, but recurred rapidly on rechallenge when not on steroids. Marked fatigue is a previously unrecognized adverse effect of thiopurines. It does not appear to be drug-specific. Its onset might be masked by concurrent steroid therapy.

NNDSS - Table I. infrequently reported notifiable diseases

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U.S. Department of Health & Human Services — NNDSS - Table I. infrequently reported notifiable diseases - 2016. In this Table, provisional* cases of selected† infrequently reported notifiable diseases...

Design and application of the emergency response mobile phone-based information system for infectious disease reporting in the Wenchuan earthquake zone.

Science.gov (United States)

Ma, Jiaqi; Zhou, Maigeng; Li, Yanfei; Guo, Yan; Su, Xuemei; Qi, Xiaopeng; Ge, Hui

2009-05-01

To describe the design and application of an emergency response mobile phone-based information system for infectious disease reporting. Software engineering and business modeling were used to design and develop the emergency response mobile phone-based information system for infectious disease reporting. Seven days after the initiation of the reporting system, the reporting rate in the earthquake zone reached the level of the same period in 2007, using the mobile phone-based information system. Surveillance of the weekly report on morbidity in the earthquake zone after the initiation of the mobile phone reporting system showed the same trend as the previous three years. The emergency response mobile phone-based information system for infectious disease reporting was an effective solution to transmit urgently needed reports and manage communicable disease surveillance information. This assured the consistency of disease surveillance and facilitated sensitive, accurate, and timely disease surveillance. It is an important backup for the internet-based direct reporting system for communicable disease. © 2009 Blackwell Publishing Asia Pty Ltd and Chinese Cochrane Center, West China Hospital of Sichuan University.

NNDSS - Table I. infrequently reported notifiable diseases

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U.S. Department of Health & Human Services — NNDSS - Table I. infrequently reported notifiable diseases - 2017. In this Table, provisional cases of selected infrequently reported notifiable diseases (<1,000...

NNDSS - Table I. infrequently reported notifiable diseases

Data.gov (United States)

U.S. Department of Health & Human Services — NNDSS - Table I. infrequently reported notifiable diseases - 2014.In this Table, provisional cases of selected infrequently reported notifiable diseases (<1,000...

NNDSS - Table I. infrequently reported notifiable diseases

Data.gov (United States)

U.S. Department of Health & Human Services — NNDSS - Table I. infrequently reported notifiable diseases - 2015. In this Table, provisional cases of selected infrequently reported notifiable diseases (<1,000...

NNDSS - Table I. infrequently reported notifiable diseases

Data.gov (United States)

U.S. Department of Health & Human Services — NNDSS - Table I. infrequently reported notifiable diseases - 2018. In this Table, provisional cases of selected infrequently reported notifiable diseases (<1,000...

Association between previously identified loci affecting telomere length and coronary heart disease (CHD in Han Chinese population

Directory of Open Access Journals (Sweden)

Ding H

2014-05-01

7675998. By one-way analysis of variance test, rs7675998 was associated with the onset age of CHD. CHD patients with the AA genotype of rs7675998 had significantly lower onset age (P<0.05.Conclusion: In a Chinese Han population, NAF1 gene encoding proteins with known function in telomere biology may influence both the possibility of and the age at onset of CHD, as previously reported in European studies.Keywords: coronary heart disease, gene, leucocyte telomere length

Impact of previous vascular burden on in-hospital and long-term mortality in patients with ST-segment elevation myocardial infarction.

Science.gov (United States)

Consuegra-Sánchez, Luciano; Melgarejo-Moreno, Antonio; Galcerá-Tomás, José; Alonso-Fernández, Nuria; Díaz-Pastor, Angela; Escudero-García, Germán; Jaulent-Huertas, Leticia; Vicente-Gilabert, Marta

2014-06-01

Patients with a current acute coronary syndrome and previous ischemic heart disease, peripheral arterial disease, and/or cerebrovascular disease are reported to have a poorer outcome than those without these previous conditions. It is uncertain whether this association with outcome is observed at long-term follow-up. Prospective observational study, including 4247 patients with ST-segment elevation myocardial infarction. Detailed clinical data and information on previous ischemic heart disease, peripheral arterial disease, and cerebrovascular disease ("vascular burden") were recorded. Multivariate models were performed for in-hospital and long-term (median, 7.2 years) all-cause mortality. One vascular territory was affected in 1131 (26.6%) patients and ≥ 2 territories in 221 (5.2%). The total in-hospital mortality rate was 12.3% and the long-term incidence density was 3.5 deaths per 100 patient-years. A background of previous ischemic heart disease (odds ratio = 0.83; P = .35), peripheral arterial disease (odds ratio = 1.30; P = .34), or cerebrovascular disease (stroke) (odds ratio = 1.15; P = .59) was not independently predictive of in-hospital death. In an adjusted model, previous cerebrovascular disease and previous peripheral arterial disease were both predictors of mortality at long-term follow-up (hazard ratio = 1.57; P cerebrovascular disease and peripheral arterial disease were predictors of mortality at long-term after hospital discharge. Copyright © 2013 Sociedad Española de Cardiología. Published by Elsevier Espana. All rights reserved.

Reevaluating Muscle Biopsies in the Diagnosis of Pompe Disease: A Corroborative Report.

Science.gov (United States)

Genge, Angela; Campbell, Natasha

2016-07-01

Previous reports suggest that although a diagnostic muscle biopsy can confirm the presence of Pompe disease, the absence of a definitive biopsy result does not rule out the diagnosis. In this study, we reviewed patients with a limb-girdle syndrome who demonstrated nonspecific abnormalities of muscle, without evidence of the classical changes of acid maltase deficiency. These patients were rescreened for Pompe disease using dried blood spot (DBS) testing. Twenty-seven patients provided blood samples for the DBS test. Four patients underwent subsequent genetic testing. Genetic analysis demonstrated that one patient tested positive for Pompe disease and one patient had one copy of a pathogenic variant. In conclusion, the ability of a diagnostic muscle biopsy to definitively rule out the presence of Pompe disease is limited. There is a role for a screening DBS in all patients presenting with a limb-girdle syndrome without a clear diagnosis.

Adult cytomegalic inclusion disease in leukemia and malignant lymphoma. Report of two cases with concomitant pneumocystis infection

Energy Technology Data Exchange (ETDEWEB)

Nakamura, R M; Ichimaru, Michito; Izeki, Tetsuya

1961-01-01

Two cases of cytomegalic inclusion disease complicating chronic granulocytic leukemia and subacute lymphocytic leukemia in adult Japanese males in Nagasaki, Japan are reported. Both cases had concomitant pulmonary infection by pneumocystis carinii and both were exposed to the atomic bomb in 1945. It is believed these are the first reported autopsy cases of adult cytomegalic inclusion disease in which typical cytomegalic inclusion bodies were seen in the parenchymal cells of the salivary glands. Previously reported cases of adult cytomegalic inclusion disease complicating leukemia and malignant lymphoma are briefly summarized. Present knowledge of the relationship between cytomegalic and pneumocystis infections and association with lymphoma and leukemia is reviewed. The possible roles of chemotherapeutic agents and of radiation in the development of the cytomegalic and pneumocystis infections are also briefly discussed. 43 references, 4 figures, 2 tables.

Previous medical history of diseases in children with attention deficit hyperactivity disorder and their parents

Directory of Open Access Journals (Sweden)

Ayyoub Malek

2014-02-01

Full Text Available Introduction: The etiology of Attention deficit hyperactivity disorder (ADHD is complex and most likely includes genetic and environmental factors. This study was conducted to evaluatethe role of previous medical history of diseases in ADHD children and their parents during theearlier years of the ADHD children's lives. Methods: In this case-control study, 164 ADHD children attending to Child and AdolescentPsychiatric Clinics of Tabriz University of Medical Sciences, Iran, compared with 166 normal children selected in a random-cluster method from primary and guidance schools. ADHDrating scale (Parents version and clinical interview based on schedule for Schedule forAffective Disorders and Schizophrenia for School-Age Children-Present and Lifetime Version(K-SADS were used to diagnose ADHD cases and to select the control group. Two groupswere compared for the existence of previous medical history of diseases in children andparents. Fisher's exact test and logistic regression model were used for data analysis. Results: The frequency of maternal history of medical disorders (28.7% vs. 12.0%; P = 0.001was significantly higher in children with ADHD compared with the control group. The frequency of jaundice, dysentery, epilepsy, asthma, allergy, and head trauma in the medicalhistory of children were not significantly differed between the two groups. Conclusion: According to this preliminary study, it may be concluded that the maternal historyof medical disorders is one of contributing risk factors for ADHD.

Self-reported previous knee injury and low knee function increase knee injury risk in adolescent female football

DEFF Research Database (Denmark)

Clausen, Mikkel Bek; Tang, L; Zebis, M K

2016-01-01

with low KOOS subscale scores (Sport/Recreational (RR: 2.2) and Quality of Life (RR: 3.0) (P time-loss knee...... questionnaires were collected at baseline. Time-loss knee injuries and football exposures were reported weekly by answers to standardized text-message questions, followed by injury telephone interviews. A priori, self-reported previous knee injury and low KOOS subscale scores (... as independent variables in the risk factor analyses. The study showed that self-reported previous knee injury significantly increased the risk of time-loss knee injury [relative risk (RR): 3.65, 95% confidence (CI) 1.73-7.68; P time-loss knee injury was also significantly increased in players...

Hepatocellular Carcinoma Metastasis to the Orbit in a Coinfected HIV+ HBV+ Patient Previously Treated with Orthotopic Liver Transplantation: A Case Report

Directory of Open Access Journals (Sweden)

S. Guerriero

2011-01-01

Full Text Available Hepatocellular carcinoma rarely metastasizes to the orbit. We report a 45-year-old male, HBV+, HIV+, with a past history of a liver transplant for ELSD (end-stage liver disease with hepatocellular carcinoma and recurrent HCC, who presented with proptosis and diplopia of the left eye. CT scans of the head revealed a large, irregular mass in the left orbit causing superior and lateral destruction of the orbital bone. Biopsy specimens of the orbital tumor showed features of metastatic foci of hepatocellular carcinoma. Only 16 other cases of HCC metastasis to the orbit have been described in literature, and this is the first case in a previously transplanted HIV+, HBV+ patient.

Analysis of over 10,000 Cases finds no association between previously reported candidate polymorphisms and ovarian cancer outcome

DEFF Research Database (Denmark)

White, Kristin L; Vierkant, Robert A; Fogarty, Zachary C

2013-01-01

Ovarian cancer is a leading cause of cancer-related death among women. In an effort to understand contributors to disease outcome, we evaluated single-nucleotide polymorphisms (SNP) previously associated with ovarian cancer recurrence or survival, specifically in angiogenesis, inflammation, mitosis...

Primary CNS Nonamyloidogenic Light Chain Deposition Disease: Case Report and Brief Review.

Science.gov (United States)

Mercado, Juan Jose; Markert, James M; Meador, William; Chapman, Philip; Perry, Arie; Hackney, James R

2017-12-01

The true incidence of light chain deposition disease (LCDD) restricted to the central nervous system (CNS) is unknown. To our knowledge only 7 cases of LCDD restricted to the brain have been previously reported. We herein describe an unusual example. A 44-year-old man presented with a history of ischemic retinopathy in 2004 and left lower extremity hypoesthesia in 2007 that progressed gradually to left-sided weakness and numbness in the 2 years prior to his hospitalization in 2015. A stereotactic brain biopsy was performed, displaying nonspecific hyaline deposits of amorphous "amyloid-like" material involving deep brain white matter and vessels. These were Congo red negative and were accompanied by a sparse lymphoplasmacytic infiltrate. Plasma cells demonstrated kappa light chain class restriction by chromogenic in situ hybridization (CISH). There was patchy reactivity with kappa immunohistochemistry in the amorphous deposits. A diagnosis of light chain deposition disease was made. Subsequent systemic myeloma and lymphoma workups were negative. Previously reported cases have included men and women, spanning the ages of 19 and 72 years, often presenting with hemiparesis, hypoesthesia, or seizures. Deposits have been reported in the cerebrum and cerebellum. T2/FLAIR (fluid attenuation inversion recovery) changes are usual, but lesions may or may not produce contrast enhancement. The light chain deposition may be of kappa or lambda class. Most lesions have been accompanied by local lymphoid and/or plasma cell infiltrates exhibiting light chain restriction of the same class as the deposits. In summary, LCDD limited to the CNS is a rare lesion consisting of deposition of amyloid-like, but Congo red-negative monotypic light chain usually produced by local lymphoplasmacytic infiltrates.

Circulating angiotensin-converting enzyme 2 activity in patients with chronic kidney disease without previous history of cardiovascular disease.

Science.gov (United States)

Anguiano, Lidia; Riera, Marta; Pascual, Julio; Valdivielso, José Manuel; Barrios, Clara; Betriu, Angels; Mojal, Sergi; Fernández, Elvira; Soler, María José

2015-07-01

added to recover enzymatic activity. In a CKD population without previous history of CV disease, ACE2 activity from human EDTA-plasma samples directly correlated with the classical CV risk factors namely older age, diabetes and male gender. Our data suggest that circulating ACE2 is altered in CKD patients at risk for CV event. © The Author 2015. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved.

The effectiveness of an educational programme on occupational disease reporting

NARCIS (Netherlands)

Smits, P. B. A.; de Boer, A. G. E. M.; Kuijer, P. P. F. M.; Braam, I.; Spreeuwers, D.; Lenderink, A. F.; Verbeek, J. H. A. M.; van Dijk, F. J. H.

2008-01-01

Background: Occupational diseases are under reported. Targeted education of occupational physicians (OPs) may improve their rate of reporting occupational diseases. Aim: To study the effectiveness of an active multifaceted workshop aimed at improving OPs' reporting of occupational diseases. Methods:

Is syndromic data from rural poultry farmers a viable poultry disease reporting tool and means of identifying likely farmer responses to poultry disease incursion?

Science.gov (United States)

Mubamba, C; Ramsay, G; Abolnik, C; Dautu, G; Gummow, B

2018-05-01

Syndromic surveillance is a well described tool used in developed countries for alerting authorities to livestock disease incursions. However, little work has been done to evaluate whether this could be a viable tool in countries where disease reporting infrastructure and resources is poor. Consequently, a syndrome-based questionnaire study in Eastern Zambia was designed to gather data on previous encounters farmers had with poultry diseases, as well as control measures they use to mitigate them. Descriptive statistics and logistic regression were used to analyse the data. Farmers reported an overall annual disease incidence in rural poultry for eastern Zambia of 31% (90% CI 29-32%). Occurrence of poultry disease in the last 12 months was associated with use of middlemen to purchase poultry products (p = 0.05, OR = 7.87), poultry products sold or given away from the farm (p = 0.01, OR = 1.92), farmers experiencing a period with more trade of poultry and its products (p = 0.04, OR = 1.70), presence of wild birds near the farm or village (p = 0.00, OR = 2.47) and poultry diseases being reported from neighbouring farms or villages (p = 0.00, OR = 3.12). The study also tentatively identified three poultry diseases (Newcastle Disease, Gumboro Disease and Fowl Pox) from the thirty-four disease syndromes provided by farmers. Farmers reported an incidence of 27% for Newcastle Disease in 2014. When compared with the state veterinary services data which reported Newcastle Disease incidence at 9% in 2014, it seems syndromic data obtained from farmers may be more sensitive in identifying disease incursion. Thirty-six remedies and strategies farmers use to treat and control these diseases were revealed. The main control strategy for identified diseases was vaccination and the main treatment was unspecified herbs, which warrants further investigation and presents an opportunity for further research in ethno-veterinary medicine. More still

Early Disseminated Lyme Disease Masquerading as Mononucleosis: A Case Report.

Science.gov (United States)

Tumminello, Richard; Glaspey, Lindsey; Bhamidipati, Anita; Sheehan, Patrick; Patel, Sundip

2017-12-01

Disseminated Lyme disease can be difficult to diagnose, as it begins with nonspecific signs and symptoms, which, if not treated correctly, can lead to atrioventricular conduction blocks and meningitis. In addition, the diagnosis can be further complicated by potentially false-positive test results. We report a case of early-disseminated Lyme disease presenting with Borrelia meningitis and concomitant Lyme carditis, which was misdiagnosed as mononucleosis. A young, previously healthy patient had been hiking in the woods of upstate New York and 4 weeks later developed fever, night sweats, and myalgias. He was diagnosed with mononucleosis via a positive rapid heterophile agglutination antibody test to the Epstein-Barr virus at a walk-in clinic and was started on medications, but then subsequently developed left hip pain, a facial droop, and a very long first-degree atrioventricular conduction block. He went to the Emergency Department, where he had testing that confirmed disseminated Lyme disease. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: This case highlights the difficulty in early diagnosis of disseminated Lyme disease and how a potentially false-positive laboratory test can lead to the complications of Borrelia meningitis and Lyme carditis in untreated young healthy patients. Emergency physicians need to consider Lyme disease in patients with nonspecific signs and symptoms, especially if they have been outdoors for prolonged periods of time in Lyme-endemic areas. Copyright © 2017 Elsevier Inc. All rights reserved.

Severity of self-reported diseases and symptoms in Denmark

DEFF Research Database (Denmark)

Iburg, Kim Moesgaard; Rasmussen, Niels Kristian; Avlund, Kirsten

2006-01-01

, more frequently than males, reported on all symptoms and all disease groups except injuries. People with relatively low levels of education reported most diseases, especially musculoskeletal and cardiovascular diseases, more frequently than people with higher education. Age-adjusted mean SF-36 scores...... for all dimensions combined showed that the symptoms of melancholy/depression and breathing difficulties, psychiatric disorders and respiratory diseases scored lowest (i.e. were most often associated with worse health). Females had lower SF-36 combined scores (worse health) than males on all symptoms. We......OBJECTIVE: To estimate and rank the relative severity of self-reported diseases and symptoms in Denmark. METHOD: The 1994 Danish Health and Morbidity Survey collected data from 5,472 Danes older than 16 years of age. Interviews (response frequency: 79%) gave information on diseases and symptoms...

Self-Reported Symptoms of Parkinson's Disease by Sex and Disease Duration.

Science.gov (United States)

Shin, Ju Young; Pohlig, Ryan T; Habermann, Barbara

2017-11-01

Parkinson's disease (PD) is a neurodegenerative disease with a wide range of symptom presentations. The purpose of this research was to compare self-reported motor and non-motor symptoms of PD by sex and disease duration. This study was a cross-sectional descriptive survey in community-dwelling people with PD. A total of 141 participants (64.6% response rate; 59.6% men; M age = 69.7 years) were included. Males reported more rigidity, speech problems, sexual dysfunction, memory problems, and socializing problems than females. The number of motor symptoms in three groups divided by increments of 5 years was significantly increased. Postural instability, freezing, off periods, dyskinesia, speech problems, and hallucinations/psychosis were significantly increased as the disease duration increased. Thorough assessment of motor and non-motor symptoms could decrease the risk of inadequate symptom management. Provision of information regarding PD symptoms at each stage may help people with PD and their caregivers in planning their future care and life.

Review of Infectious Disease Report in Great Britain

Directory of Open Access Journals (Sweden)

V.D. Sorokhan

2015-02-01

Full Text Available The article deals with an analysis of infectious disease report in Great Britain that is a member of the European Union. There are listed the infectious diseases and infectious agents of these diseases. There are described in detail how to fill the notification form and the methods and terms of sending it to Public Health England. Attention is focused on the importance of the analysis of infectious disease report in the European Union in the light of cooperation between Ukraine and the EU after the economic component of the Association Agreement has been signed.

Advanced sickle cell associated interstitial lung disease presenting ...

African Journals Online (AJOL)

Previous studies have reported abnormal pulmonary function and pulmonary hypertension among Nigerians with sickle cell disease, but there is no report of interstitial lung disease among them. We report a Nigerian sickle cell patient who presented with computed tomography proven interstitial lung disease complicated by ...

Graves disease with ophthalmopathy following radiotherapy for Hodgkin's disease

International Nuclear Information System (INIS)

Jacobson, D.R.; Fleming, B.J.

1984-01-01

The number of patients achieving long-term survival following neck irradiation for Hodgkin's disease and other malignancies is increasing. Paralleling this increase in survivors is the development of late complications of the therapy itself. Eleven patients have previously been reported who developed Graves ophthalmopathy 18 months to seven years after receiving neck radiotherapy for nonthyroidal malignancies. The seven patients who had HLA typing were all HLA-B8 negative, despite the reported association of the HLA-B8 antigen with Graves disease. A patient who is HLA-B8 positive who developed Graves ophthalmopathy and hyperthyroidism nine years after receiving mantle radiotherapy for Hodgkin's disease is reported. It is recommended that Graves disease be included among the thyroid diseases that receive consideration during follow-up of patients who have received mantle radiotherapy

Web-based infectious disease reporting using XML forms.

Science.gov (United States)

Liu, Danhong; Wang, Xia; Pan, Feng; Xu, Yongyong; Yang, Peng; Rao, Keqin

2008-09-01

Exploring solutions for infectious disease information sharing among hospital and public health information systems is imperative to the improvement of disease surveillance and emergent response. This paper aimed at developing a method to directly transmit real-time data of notifiable infectious diseases from hospital information systems to public health information systems on the Internet by using a standard eXtensible Markup Language (XML) format. The mechanism and work flow by which notifiable infectious disease data are created, reported and used at health agencies in China was evaluated. The capacity of all participating providers to use electronic data interchange to submit transactions of data required for the notifiable infectious disease reporting was assessed. The minimum data set at national level that is required for reporting for national notifiable infectious disease surveillance was determined. The standards and techniques available worldwide for electronic health data interchange, such as XML, HL7 messaging, CDA and ATSM CCR, etc. were reviewed and compared, and an XML implementation format needed for this purpose was defined for hospitals that are able to access the Internet to provide a complete infectious disease reporting. There are 18,703 county or city hospitals in China. All of them have access to basic information infrastructures including computers, e-mail and the Internet. Nearly 10,000 hospitals possess hospital information systems used for electronically recording, retrieving and manipulating patients' information. These systems collect 23 data items required in the minimum data set for national notifiable infectious disease reporting. In order to transmit these data items to the disease surveillance system and local health information systems instantly and without duplication of data input, an XML schema and a set of standard data elements were developed to define the content, structure and semantics of the data set. These standards

Major and chronic diseases, report 2007.

NARCIS (Netherlands)

Giampaoli, S.; Oyen, H. van; Devillé, W.; Verschuuren, M.

2008-01-01

Blind spots in European health information On June 6th 2008 the European Commission has published the Major and Chronic Diseases Report 2007. This report describes the state of the art of health information in Europe on 13 prevalent chronic conditions. Large differences between the Member States of

Previously Unidentified Single Nucleotide Polymorphisms in HIV/AIDS Cases Associate with Clinical Parameters and Disease Progression

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Vladimir V. Anokhin

2016-01-01

Full Text Available The genetic background of an individual plays an important role in the progression of HIV infection to AIDS. Identifying previously unknown or uncharacterized single nucleotide polymorphisms (SNPs that associate with disease progression may reveal important therapeutic targets and provide a greater understanding of disease pathogenesis. In the present study, we employed ultra-high multiplex PCR on an Ion Torrent next-generation sequencing platform to sequence 23 innate immune genes from 94 individuals with HIV/AIDS. This data was used to identify potential associations of SNPs with clinical parameters and disease progression. SNPs that associated with an increased viral load were identified in the genes for the interleukin 15 receptor (IL15RA, toll-like receptor 7 (TLR7, tripartite motif-containing protein 5 (TRIM5, and two killer-cell immunoglobulin-like receptors (KIR2DL1 and KIR2DL3. Additionally, SNPs that associated with progression from HIV infection to AIDS were identified in two 2′-5′-oligoadenylate synthetase genes (OAS2 and OAS3. In contrast, other SNPs identified in OAS2 and OAS3 genes, as well as in the TRIM5 and KIR2DS4 genes, were associated with a slower progression of disease. Taken together, our data demonstrates the utility of ultra-high multiplex PCR in identifying polymorphisms of potential clinical significance and further,identifies SNPs that may play a role in HIV pathogenesis.

New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome

DEFF Research Database (Denmark)

Yang, Ren-Qiang; Jabbari, Javad; Cheng, Xiao-Shu

2014-01-01

BACKGROUND: Marfan syndrome (MFS) is a rare autosomal dominantly inherited connective tissue disorder with an estimated prevalence of 1:5,000. More than 1000 variants have been previously reported to be associated with MFS. However, the disease-causing effect of these variants may be questionable...

[A cost-benefit analysis of occupational disease reporting in China].

Science.gov (United States)

Tang, X Z; Zeng, Q; Liu, D S

2017-03-20

Objective: To perform a cost-benefit analysis of the occupational disease reporting system in China, and to provide a basis for effective resource allocation. Methods: The data on the cost of occupational diseases were collected from China Health Statistics Yearbook 2013, the estimated benefit data were collected from published articles in China and foreign countries, and the probability data were collected from the occupational diseasereports published by health and family planning administrative departments. Adecision-making tree was used for the cost-benefit analysis. Results: The estimated cost of occupational disease reporting was about 102.47 million yuan/year, consisting of a cost of reporting in national medical institutions of 1.25 million yuan/year, a management cost of 30.35 million yuan/year, a management cost in local public health institutions of 69.80 million yuan/year, a management cost in national public health institutions of 370 thousand yuan/year, and a cost of construction and maintenance of reporting system of 700 thousand yuan/year. The results of the decision tree analysis showed that when an occupational disease monitoring system was established, the incremental input for occupational disease monitoring and prevention/control was 2.1 billion yuan/year, the output was 6.5 billion yuan/year, and the benefit of occupational disease reporting system was 4.4 billion yuan/year. Conclusion: The benefit of occupational disease reporting system depends on the cost-benefit of occupational disease prevention and control measures, and proper prevention and control measures are extremely important for improving the benefit of occupational disease reporting system.

Eikenella corrodens endocarditis and liver abscess in a previously healthy male, a case report

DEFF Research Database (Denmark)

Nordholm, Anne Christine; Vøgg, Ruth Ottilia Birgitta; Permin, Henrik

2018-01-01

BACKGROUND: Eikenella corrodens is one of the HACEK bacteria constituting part of the normal flora of the oropharynx, however, still an uncommon pathogen. We report a case of a large Eikenella corrodens liver abscess with simultaneously endocarditis in a previously healthy male. CASE PRESENTATION...... on pneumonia treatment, a PET-CT scan was performed, which showed a large multiloculated abscess in the liver. The abscess was drained using ultrasound guidance. Culture demonstrated Eikenella corrodens. Transesophageal echocardiography revealed aortic endocarditis. The patient was treated with antibiotics...... corrodens concurrent liver abscess and endocarditis. The case report highlights that Eikenella corrodens should be considered as a cause of liver abscess. Empirical treatment of pyogenic liver abscess will most often cover Eikenella corrodens, but the recommended treatment is a third generation...

Quadriplegia due to celiac crisis with hypokalemia as initial presentation of celiac disease: a case report.

Science.gov (United States)

Bhattacharya, Malobika; Kapoor, Seema

2012-02-01

Celiac crisis is a rare, life-threatening complication of celiac disease characterized by worsening of clinical symptoms, multiple metabolic derangements and shock. We report an 8-year-old girl with previously undiagnosed celiac disease who presented with flaccid quadriparesis secondary to severe hypokalemia associated with celiac crisis. Diagnosis was expedited by an elevated anti-tissue transglutaminase antibody titer. The patient improved with correction of hypokalemia, corticosteroids and gluten-free diet. In tropical countries such as India, where both acute flaccid paresis and diarrhea are usually of infective etiologies, this rare clinical condition should also be considered in the differential diagnosis of both.

Self-reported dietary adherence, disease-specific symptoms, and quality of life are associated with healthcare provider follow-up in celiac disease.

Science.gov (United States)

Hughey, Jacob J; Ray, Bonnie K; Lee, Anne R; Voorhees, Kristin N; Kelly, Ciaran P; Schuppan, Detlef

2017-12-11

The only treatment for celiac disease (CeD) is a lifelong gluten-free diet (GFD). The restrictive nature of the GFD makes adherence a challenge. As an integral part of CeD management, multiple professional organizations recommend regular follow-up with a healthcare provider (HCP). Many CeD patients also participate in patient advocacy groups (PAGs) for education and support. Previous work found that follow-up of CeD patients is highly variable. Here we investigated the self-reported factors associated with HCP follow-up among individuals diagnosed with CeD who participate in a PAG. We conducted a survey of members of Beyond Celiac (a PAG), collecting responses from 1832 U.S. adults ages 19-65 who reported having CeD. The survey queried HCP follow-up related to CeD and included validated instruments for dietary adherence (CDAT), disease-specific symptoms (CSI), and quality of life (CD-QOL). Overall, 27% of respondents diagnosed with CeD at least five years ago reported that they had not visited an HCP about CeD in the last five years. The most frequent reason for not visiting an HCP was "doing fine on my own" (47.6%). Using multiple logistic regression, we identified significant associations between whether a respondent reported visiting an HCP about CeD in the last five years and the scores for all three validated instruments. In particular, as disease-specific symptoms and quality of life worsened, the probability of having visited an HCP increased. Conversely, as dietary adherence worsened, the probability decreased. Our results suggest that many individuals with CeD manage their disease without ongoing support from an HCP. Our results thus emphasize the need for greater access to high quality CeD care, and highlight an opportunity for PAGs to bring together patients and HCPs to improve management of CeD.

Chronic kidney disease and obesity in Ireland: comparison of self-reported coronary artery disease in population study with clinic attendees.

LENUS (Irish Health Repository)

Lannin, U

2015-02-01

Obesity is a growing issue in Ireland. The link between obesity, CKD and CAD has not previously been described in the Irish population. The prevalence of obesity and CKD was compared across 3 groups: population based estimates with self-reported CAD, population based estimates without self-reported CAD (SLAN-07) and a random selection of cardiology outpatients with CAD. The SLAN-07 is a representative survey of 1207 randomly selected participants ≥ 45 years. Validated methods measured parameters including waist circumference, blood pressure and markers of renal function specifically glomerular filtration rate (eGFR) and albumin: creatinine ratio. The Cardiology clinic surveyed a random selection of 126 participants ≥ 45 years with CAD. Similar parameters were measured using the validated methods utilised in SLAN-07 study. Prevalence of obesity and renal disease was significantly higher in both CAD groups. At population level, risk factors were modelled using logistic regression to compare odds of participants with self-reported CAD with those without. Age, hypertension, obesity, elevated waist circumference, renal disease and diabetes are significantly associated with existing CAD. Obesity and CKD are more frequent in patients with CAD. Routine evaluation is essential to facilitate more intensive management of these risk factors.

Parkinsonian phenotype in Machado-Joseph disease (MJD/SCA3: a two-case report

Directory of Open Access Journals (Sweden)

Vasconcelos João

2011-10-01

Full Text Available Abstract Background Machado-Joseph disease (MJD, or spinocerebellar ataxia type 3 (SCA3, is an autosomal dominant neurodegenerative disorder of late onset, which is caused by a CAG repeat expansion in the coding region of the ATXN3 gene. This disease presents clinical heterogeneity, which cannot be completely explained by the size of the repeat tract. MJD presents extrapyramidal motor signs, namely Parkinsonism, more frequently than the other subtypes of autosomal dominant cerebellar ataxias. Although Parkinsonism seems to segregate within MJD families, only a few MJD patients develop parkinsonian features and, therefore, the clinical and genetic aspects of these rare presentations remain poorly investigated. The main goal of this work was to describe two MJD patients displaying the parkinsonian triad (tremor, bradykinesia and rigidity, namely on what concerns genetic variation in Parkinson's disease (PD associated loci (PARK2, LRRK2, PINK1, DJ-1, SNCA, MAPT, APOE, and mtDNA tRNAGln T4336C. Case presentation Patient 1 is a 40 year-old female (onset at 30 years of age, initially with a pure parkinsonian phenotype (similar to the phenotype previously reported for her mother. Patient 2 is a 38 year-old male (onset at 33 years of age, presenting an ataxic phenotype with parkinsonian features (not seen either in other affected siblings or in his father. Both patients presented an expanded ATXN3 allele with 72 CAG repeats. No PD mutations were found in the analyzed loci. However, allelic variants previously associated with PD were observed in DJ-1 and APOE genes, for both patients. Conclusions The present report adds clinical and genetic information on this particular and rare MJD presentation, and raises the hypothesis that DJ-1 and APOE polymorphisms may confer susceptibility to the parkinsonian phenotype in MJD.

A 6-year-old boy with Cornelia de Lange syndrome and Coats disease: case report and review of the literature.

Science.gov (United States)

Stacey, Andrew W; Sparagna, Cristina; Borri, Melissa; Rizzo, Stanislao; Hadjistilianou, Theodora

2015-10-01

Cornelia de Lange syndrome (CdLS) can result in multiple congenital abnormalities and numerous ocular findings. We report the case of a 6-year-old boy with history of CdLS who presented with Coats disease. The findings in this case are compared to those found in the two previously reported cases of concomitant CdLS and Coats disease. The low incidence of these two disorders makes it highly unlikely that the connection is random in these 3 cases. The number of patients with both Cornelia de Lange syndrome and Coats disease is likely underestimated due to the difficulty in examining the peripheral retina in this patient population. Copyright © 2015 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.

The chronic obstructive pulmonary disease assessment test improves the predictive value of previous exacerbations for poor outcomes in COPD.

Science.gov (United States)

Miravitlles, Marc; García-Sidro, Patricia; Fernández-Nistal, Alonso; Buendía, María Jesús; Espinosa de Los Monteros, María José; Esquinas, Cristina; Molina, Jesús

2015-01-01

Chronic obstructive pulmonary disease (COPD) exacerbations have a negative impact on the quality of life of patients and the evolution of the disease. We have investigated the prognostic value of several health-related quality of life questionnaires to predict the appearance of a composite event (new ambulatory or emergency exacerbation, hospitalization, or death) over a 1-year follow-up. This was a multicenter, prospective, observational study. Patients completed four questionnaires after recovering from an exacerbation (COPD Assessment Test [CAT], a Clinical COPD Questionnaire [CCQ], COPD Severity Score [COPDSS], and Airways Questionnaire [AQ20]). Patients were followed-up until the appearance of the composite event or for 1 year, whichever came first. A total of 497 patients were included in the study. The majority of them were men (89.7%), with a mean age of 68.7 (SD 9.2) years, and a forced expiratory volume in 1 second of 47.1% (SD 17.5%). A total of 303 (61%) patients experienced a composite event. Patients with an event had worse mean scores of all questionnaires at baseline compared to patients without event: CAT=12.5 vs 11.3 (P=0.028); CCQ=2.2 vs 1.9 (P=0.013); COPDSS=12.3 vs 10.9 (P=0.001); AQ20=8.3 vs 7.5 (P=0.048). In the multivariate analysis, only previous history of exacerbations and CAT score ≥13.5 were significant risk factors for the composite event. A CAT score ≥13.5 increased the predictive value of previous exacerbations with an area under the receiver operating characteristic curve of 0.864 (95% CI: 0.829-0.899; P=0.001). The predictive value of previous exacerbations significantly increased only in one of the four trialled questionnaires, namely in the CAT questionnaire. However, previous history of exacerbations was the strongest predictor of the composite event.

Pulmonary talc granulomatosis mimicking malignant disease 30 years after last exposure: a case report

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Krimsky William S

2008-07-01

Full Text Available Abstract Introduction Pulmonary talc granulomatosis is a rare disorder characterized by the development of foreign body granuloma secondary to talc exposure. Previous case reports have documented the illness in current intravenous drug users who inject medications intended for oral use. We present a rare case of the disease in a patient with a distant history of heroin abuse who presented initially with history and imaging findings highly suggestive of malignancy. Case presentation A 53-year-old man reported a 4-month history of increasing dyspnea and weight loss. He had a long history of smoking and admission chest X-ray revealed a density in the right hemithorax. Computed tomography confirmed a probable mass with further speculated opacities in both lung fields suspicious for malignant spread. Biopsies obtained using endobronchial ultrasound-guided aspiration returned negative for malignancy and showed bronchial epithelial cells with foreign body giant cell reaction and polarizable birefringent talc crystals. Conclusion This case demonstrates a rare presentation of talc granulomatosis three decades after the last likely exposure. The history and imaging findings in a chronic smoker were initially strongly suggestive of malignant disease, and we recommend that talc-induced lung disease is considered in any patient with multiple scattered pulmonary lesions and a history of intravenous drug use. Confirmation of the disease by biopsy is essential, but unfortunately there are few successful proven management options for patients with worsening disease.

Hydatid cyst disease of the thyroid gland: report of two cases.

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Akbulut, Sami; Demircan, Firat; Sogutcu, Nilgun

2015-04-01

Hydatid cyst disease may develop in any organ of the body, most frequently in the liver and lung, but occasionally can affect other organs such as the thyroid gland. Although the prevalence of thyroidal cyst disease varies by region, literature data suggest that it ranges between 0% and 3.4%. The aim of this report was to share 2 cases with thyroid hydatid cyst. Two female patients aged 26 and 57 years were admitted to our outpatient clinic with different complaints. While the first case presented with front of the neck swelling and pain, the second case presented with hoarseness, sore throat, and neck swelling. Both patients were living in a rural area in the southeastern region of Turkey and had had a long history of animal contact. Both patients had undergone previous surgeries for hydatid cyst disease. Both patients presented with a clinical picture consistent with typical multinodular goiter, and both underwent total thyroidectomy after detailed examinations and tests. The exact diagnosis was made after histopathologic examination in both patients. They both had a negative indirect hemagglutination test studied from blood samples. They both have had no recurrences during a 4-year follow-up. In conclusion, although thyroid gland is rarely affected, hydatid cyst disease should not be overlooked in differential diagnosis of cystic lesions of thyroid gland in patients who live in regions where hydatid cyst disease is endemic and who had hydatid cysts in other regions of their body.

Intraoral Morgellons disease or delusional parasitosis: a first case report.

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Dovigi, Allan J

2010-08-01

Morgellons disease is a new emerging disease that is still controversial and believed to be, by some practitioners, as nothing more than delusional parasitosis. The Center for Disease Control has recently launched an epidemiological investigation into this disease due to the increased number of reports. A first case is reported of an oral lesion and symptoms consistent with Morgellons disease. The nature of the characteristic fibers associated with the intraoral lesion is investigated. Research has started at a number of institutions to elucidate the nature of this emerging disease.

Addison’s Disease: A rare case report

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Sanjay N. Agrawal

2015-04-01

Full Text Available A female patient presented with progressive weakness, asthenia and generalized hyperpigmentation. The characteristic hyperpimentation pointed towards possibility of Addison’s disease which was proved by markedly decreased plasma cortisol levels, hyponatremia and hyperkalemia. This could be one of the very few cases of Addison’s Disease reported.

Lack of Cetuximab induced skin toxicity in a previously irradiated field: case report and review of the literature

Science.gov (United States)

2010-01-01

Introduction Mutation, amplification or dysregulation of the EGFR family leads to uncontrolled division and predisposes to cancer. Inhibiting the EGFR represents a form of targeted cancer therapy. Case report We report the case of 79 year old gentlemen with a history of skin cancer involving the left ear who had radiation and surgical excision. He had presented with recurrent lymph node in the left upper neck. We treated him with radiation therapy concurrently with Cetuximab. He developed a skin rash over the face and neck area two weeks after starting Cetuximab, which however spared the previously irradiated area. Conclusion The etiology underlying the sparing of the previously irradiated skin maybe due to either decrease in the population of EGFR expressing cells or decrease in the EGFR expression. We raised the question that "Is it justifiable to use EGFR inhibitors for patients having recurrence in the previously irradiated field?" We may need further research to answer this question which may guide the physicians in choosing appropriate drug in this scenario. PMID:20478052

The Relationship of Lumbar Multifidus Muscle Morphology to Previous, Current, and Future Low Back Pain

DEFF Research Database (Denmark)

Hebert, Jeffrey J; Kjær, Per; Fritz, Julie M

2014-01-01

of LBP after five and nine years.Summary of Background Data. Although low back pain (LBP) is a major source of disease burden, the biologic determinants of LBP are poorly understood.Methods. Participants were 40-year-old adults randomly sampled from a Danish population and followed-up at ages 45 and 49....... At each time point, participants underwent magnetic resonance imaging and reported ever having had LBP, LBP in the previous year, non-trivial LBP in the previous year, or a history of pain radiating into the legs. Pixel intensity and frequencies from T1-weighted magnetic resonance images identified...

Familial polycystic kidney disease in Nigeria: A report of two cases ...

African Journals Online (AJOL)

A case of familial polycystic kidney disease is reported. Although isolated cases of adult polycystic kidney disease have been reported in our environment, no case to our knowledge has been reported with a familial link. Polycystic kidney disease is said to be rare in Africans. Although it commonly terminates in chronic renal ...

Anti-Factor V inhibitor in patients with autoimmune diseases: case report and literature review

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Imashuku S

2011-04-01

Full Text Available Shinsaku Imashuku1, Takeshi Hasegawa2, Kagekatsu Kubo2, Masaki Nakato2, Midori Shima31Division of Pediatrics and Hematology, 2Division of Internal Medicine, Takasago-Seibu Hospital, Takasago, Hyogo; 3Department of Pediatrics, Nara Medical University, Kashihara, Nara, JapanAbstract: Acquired anti-Factor V deficiency caused by inhibitor production is a rare coagulation disorder. Although this is a well known entity in the literature, choice of optimal treatment for an individual patient is difficult, given that no standard therapeutic measures are available because of rare incidence and various underlying diseases occurring in the elderly. An 88 year-old man treated for Hashimoto's disease was found to exhibit prolongation of both prothrombin time and activated partial thromboplastin time. Detailed study of coagulation factors revealed a deficiency of Factor V. Our patient's coagulation disorder resolved in two weeks with intravenous administration of prednisolone 20 mg/day. Clinical features of autoimmune disease-related Factor V deficiency are discussed, along with eight previously reported cases over the past 20 years.Keywords: anti-Factor V inhibitor, Hashimoto's thyroiditis, autoimmune disease

Rhabdomyosarcoma Arising in a Previously Irradiated Field: An Analysis of 43 Patients

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Dang, Nguyen D. [Department of Radiation Oncology, Baylor College of Medicine, Houston, Texas (United States); Teh, Bin S. [Department of Radiation Oncology, The Methodist Hospital and Methodist Hospital Research Institute, Houston, Texas (United States); Paulino, Arnold C., E-mail: apaulino@tmhs.org [Department of Radiation Oncology, The Methodist Hospital and Methodist Hospital Research Institute, Houston, Texas (United States)

2013-03-01

Patients with soft tissue sarcomas that arise from previously irradiated fields have traditionally been reported to have a poor prognosis. In this report, we examined the characteristics and outcomes of patients who developed a rhabdomyosarcoma in a previously irradiated field (RMS-RIF); we hypothesize that these patients should have a better outcome compared to other postradiation soft tissue sarcomas as these tumors are chemosensitive and radiosensitive. A PubMed search of the literature from 1961-2010 yielded 33 studies with data for patients with RMS-RIF. The study included 43 patients with a median age of 6.5 years at the time of radiation therapy (RT) for the initial tumor. The median RT dose was 48 Gy. The median latency period, the time from RT to development of RMS-RIF, was 8 years. The 3-year overall survival for RMS-RIF was 42%. The 3-year overall survival was 66% for patients receiving chemotherapy and local treatment (surgery and/or RT) compared to 29% for those who had systemic treatment only or local treatment only (P=.049). Other factors associated with increased 3-year overall survival included retinoblastoma initial diagnosis (P<.001), age ≤18 years at diagnosis of RMS-RIF (P=.003), favorable site (P=.008), and stage 1 disease (P=.002). Age at time of RMS-RIF, retinoblastoma initial tumor, favorable site, stage 1 disease, and use of both systemic and local treatment were found to be favorable prognostic factors for 3-year overall survival.

Micrococcus sedentarius bacteraemia presenting with haemophagocytic syndrome in previously healthy boy.

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Kuskonmaz, Baris; Kara, Ates; Ozen, Maide; Cengiz, A Bülent; Ozen, Metehan; Seçmeer, Gülten; Gürgey, Aytemiz

2006-01-01

Haemophagocytic syndromes are the clinical manifestation of an increased macrophagic activity with haemophagocytosis. Infection-associated HS was originally described by Risdall in 1979, in viral disease. Since the initial description HS has also been documented in patients with bacterial, parasitic or fungal infections. We describe a case of Micrococcus sedentarius bacteraemia in a previously healthy 10-y-old boy with haemophagocytic syndrome. Species of micrococci are generally considered as non-pathogenic commensals that colonize the skin, mucosae and oropharynx. We report the first case of Microccoccus sedentarius bacteraemia in an immunocompetent host and first case of HS associated with Micrococcus species.

The hTH-GFP reporter rat model for the study of Parkinson's disease.

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Lorraine Iacovitti

Full Text Available Parkinson disease (PD is the second leading neurodegenerative disease in the US. As there is no known cause or cure for PD, researchers continue to investigate disease mechanisms and potential new therapies in cell culture and in animal models of PD. In PD, one of the most profoundly affected neuronal populations is the tyrosine hydroxylase (TH-expressing dopaminergic (DA neurons of the substantia nigra pars compacta (SNpc. These DA-producing neurons undergo degeneration while neighboring DA-producing cells of the ventral tegmental area (VTA are largely spared. To aid in these studies, The Michael J. Fox Foundation (MJFF partnered with Thomas Jefferson University and Taconic Inc. to generate new transgenic rat lines carrying the human TH gene promoter driving EGFP using a 11 kb construct used previously to create a hTH-GFP mouse reporter line. Of the five rat founder lines that were generated, three exhibited high level specific GFP fluorescence in DA brain structures (ie. SN, VTA, striatum, olfactory bulb, hypothalamus. As with the hTH-GFP mouse, none of the rat lines exhibit reporter expression in adrenergic structures like the adrenal gland. Line 12141, with its high levels of GFP in adult DA brain structures and minimal ectopic GFP expression in non-DA structures, was characterized in detail. We show here that this line allows for anatomical visualization and microdissection of the rat midbrain into SNpc and/or VTA, enabling detailed analysis of midbrain DA neurons and axonal projections after toxin treatment in vivo. Moreover, we further show that embryonic SNpc and/or VTA neurons, enriched by microdissection or FACS, can be used in culture or transplant studies of PD. Thus, the hTH-GFP reporter rat should be a valuable tool for Parkinson's disease research.

Pediatric Inflammatory Bowel Diseases

DEFF Research Database (Denmark)

Lauritzen, Didde; Andreassen, Bente Utoft; Heegaard, Niels Henrik H

2018-01-01

Background: Kidney disease has been reported in adults with inflammatory bowel disease (IBD) and is regarded an extraintestinal manifestation or more rarely a side effect of the medical treatment. Methods: In this cross-sectional study we describe the extent of kidney pathology in a cohort of 56...... children with IBD. Blood and urine samples were analyzed for markers of kidney disease and ultrasonography was performed to evaluate pole-to-pole kidney length. Results: We found that 25% of the patients had either previously reported kidney disease or ultrasonographic signs of chronic kidney disease...... are at risk of chronic kidney disease, and the risk seems to be increased with the severity of the disease....

Analysis of timeliness of infectious disease reporting in the Netherlands

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Kretzschmar Mirjam EE

2011-05-01

Full Text Available Abstract Background Timely reporting of infectious disease cases to public health authorities is essential to effective public health response. To evaluate the timeliness of reporting to the Dutch Municipal Health Services (MHS, we used as quantitative measures the intervals between onset of symptoms and MHS notification, and between laboratory diagnosis and notification with regard to six notifiable diseases. Methods We retrieved reporting data from June 2003 to December 2008 from the Dutch national notification system for shigellosis, EHEC/STEC infection, typhoid fever, measles, meningococcal disease, and hepatitis A virus (HAV infection. For each disease, median intervals between date of onset and MHS notification were calculated and compared with the median incubation period. The median interval between date of laboratory diagnosis and MHS notification was similarly analysed. For the year 2008, we also investigated whether timeliness is improved by MHS agreements with physicians and laboratories that allow direct laboratory reporting. Finally, we investigated whether reports made by post, fax, or e-mail were more timely. Results The percentage of infectious diseases reported within one incubation period varied widely, between 0.4% for shigellosis and 90.3% for HAV infection. Not reported within two incubation periods were 97.1% of shigellosis cases, 76.2% of cases of EHEC/STEC infection, 13.3% of meningococcosis cases, 15.7% of measles cases, and 29.7% of typhoid fever cases. A substantial percentage of infectious disease cases was reported more than three days after laboratory diagnosis, varying between 12% for meningococcosis and 42% for shigellosis. MHS which had agreements with physicians and laboratories showed a significantly shorter notification time compared to MHS without such agreements. Conclusions Over the study period, many cases of the six notifiable diseases were not reported within two incubation periods, and many were

Methanol Kinetics in Chronic Kidney Disease After Fomepizole: A Case Report.

Science.gov (United States)

Maskell, Kevin F; Beckett, Sara; Cumpston, Kirk L

Methanol is a common toxicant in the United States, especially from automotive products. Its kinetics have been described previously and typically involve little urinary excretion. We present a case of prolonged methanol half-life in a patient with chronic kidney disease. An 80-year-old male with a baseline glomerular filtration rate of 24 mL·min·1.73 m was transferred to our facility after unintentional methanol ingestion. The original facility had treated him with an oral ethanol load; upon arrival to our facility, he was immediately loaded with fomepizole. His initial serum methanol concentration was 66.1 mg/dL. After a risk/benefit discussion, we decided not to perform hemodialysis on the patient and he was treated with fomepizole and supportive care. After 6 days as an inpatient, the patient's methanol level had declined to 22 mg/dL, fomepizole was discontinued, and the patient was able to be discharged without apparent complications. Based on the exponential best fit line for the patient's methanol concentrations, his methanol half-life during fomepizole treatment was approximately 70 hours, significantly longer than the 30-50 hours typically reported. The reasons for this difference are unclear. This report is limited by being a single case. Further study on the kinetics of methanol in the setting of chronic kidney disease is needed.

Erdheim-Chester disease: a two-case report

International Nuclear Information System (INIS)

Hexsel, Fernando Fernandez; Suwa, Eiji; Aguiar, Paula Musa; Maciel, Antonio Carlos; Hospital de Clinicas de Porto Alegre, RS

2009-01-01

Erdheim-Chester disease is a rare non-Langerhans cell histiocytosis of unknown etiology, affecting multiple organ system, involving bones, central nervous system, eyes, lungs, mediastinum, kidneys and retroperitoneum. The authors report two cases that progressed with the typical presentation of the disease. Radiological findings were in agreement with literature and guided the diagnosis, confirmed by immunohistochemistry. (author)

Self-Reported Fractures in Dermatitis Herpetiformis Compared to Coeliac Disease

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Camilla Pasternack

2018-03-01

Full Text Available Dermatitis herpetiformis (DH is a cutaneous manifestation of coeliac disease. Increased bone fracture risk is known to associate with coeliac disease, but this has been only scantly studied in DH. In this study, self-reported fractures and fracture-associated factors in DH were investigated and compared to coeliac disease. Altogether, 222 DH patients and 129 coeliac disease-suffering controls were enrolled in this study. The Disease Related Questionnaire and the Gastrointestinal Symptom Rating Scale and Psychological General Well-Being questionnaires were mailed to participants; 45 out of 222 (20% DH patients and 35 out of 129 (27% of the coeliac disease controls had experienced at least one fracture (p = 0.140. The cumulative lifetime fracture incidence did not differ between DH and coeliac disease patients, but the cumulative incidence of fractures after diagnosis was statistically significantly higher in females with coeliac disease compared to females with DH. The DH patients and the coeliac disease controls with fractures reported more severe reflux symptoms compared to those without, and they also more frequently used proton-pump inhibitor medication. To conclude, the self-reported lifetime bone fracture risk is equal for DH and coeliac disease. After diagnosis, females with coeliac disease have a higher fracture risk than females with DH.

Self-Reported Fractures in Dermatitis Herpetiformis Compared to Coeliac Disease

Science.gov (United States)

Pasternack, Camilla; Mansikka, Eriika; Kaukinen, Katri; Hervonen, Kaisa; Reunala, Timo; Collin, Pekka; Mattila, Ville M.

2018-01-01

Dermatitis herpetiformis (DH) is a cutaneous manifestation of coeliac disease. Increased bone fracture risk is known to associate with coeliac disease, but this has been only scantly studied in DH. In this study, self-reported fractures and fracture-associated factors in DH were investigated and compared to coeliac disease. Altogether, 222 DH patients and 129 coeliac disease-suffering controls were enrolled in this study. The Disease Related Questionnaire and the Gastrointestinal Symptom Rating Scale and Psychological General Well-Being questionnaires were mailed to participants; 45 out of 222 (20%) DH patients and 35 out of 129 (27%) of the coeliac disease controls had experienced at least one fracture (p = 0.140). The cumulative lifetime fracture incidence did not differ between DH and coeliac disease patients, but the cumulative incidence of fractures after diagnosis was statistically significantly higher in females with coeliac disease compared to females with DH. The DH patients and the coeliac disease controls with fractures reported more severe reflux symptoms compared to those without, and they also more frequently used proton-pump inhibitor medication. To conclude, the self-reported lifetime bone fracture risk is equal for DH and coeliac disease. After diagnosis, females with coeliac disease have a higher fracture risk than females with DH. PMID:29538319

Mammographic breast cancer screening for women previously treated with high breast doses for diseases such as Hodgkin's

International Nuclear Information System (INIS)

Faulkner, K.; Law, J.

2005-01-01

In screening of a general population for breast cancer, benefit/risk ratios are of the order of 100/1. For the very small subgroup of women treated by radiotherapy for Hodgkin's disease below age 35, calculations of this type require different considerations, an overview of which is given in this text. It is concluded that although such previous exposures will increase their radiation risk, their increased risk of carrying an undetected breast cancer means that the potential benefit for them of screening is increased even more. In the United Kingdom, the Dept. of Health has recommended annual screening for these women. (authors)

Kawasaki disease following Rocky Mountain spotted fever: a case report.

Science.gov (United States)

Bal, Aswine K; Kairys, Steven W

2009-07-06

Kawasaki disease is an idiopathic acute systemic vasculitis of childhood. Although it simulates the clinical features of many infectious diseases, an infectious etiology has not been established. This is the first reported case of Kawasaki disease following Rocky Mountain spotted fever. We report the case of a 4-year-old girl who presented with fever and petechial rash. Serology confirmed Rocky Mountain spotted fever. While being treated with intravenous doxycycline, she developed swelling of her hands and feet. She had the clinical features of Kawasaki disease which resolved after therapy with intravenous immune globulin (IVIG) and aspirin. This case report suggests that Kawasaki disease can occur concurrently or immediately after a rickettsial illness such as Rocky Mountain spotted fever, hypothesizing an antigen-driven immune response to a rickettsial antigen.

Development and validation of a self-reported periodontal disease measure among Jordanians.

Science.gov (United States)

Khader, Yousef; Alhabashneh, Rola; Alhersh, Fadi

2015-08-01

The development of self-reported measures of periodontal disease would be of great benefit to facilitate epidemiological studies of periodontal disease on a larger scale, and to allow for surveillance of the periodontal condition of populations over time. To develop a culturally adapted self-reported measure of periodontal disease, test its predictive and discriminative validity and establish a cut-off value for this measure to diagnose periodontal disease. A total of 288 Jordanian adults completed the questionnaire assessing self-reported periodontal health (18 questions) and underwent periodontal examination. Of the 18 questions, six were significantly associated with at least one clinical definition of periodontitis and were used to constitute the self-reported periodontal disease measure. Receiver-operating characteristics (ROC) curve analyses were used to examine the overall discriminatory power, sensitivity and specificity, and corresponding cut-off points of the self-reported periodontal disease measure. ROC analysis showed that the self-reported periodontal disease measure had an excellent performance to discriminate between those with and without periodontal disease, regardless of the clinical definition used. A score of 2, on a scale of 0 to 6, had the highest sensitivity and specificity to detect periodontal disease when defined by all study criteria. Significant associations were observed between self-reported periodontal disease measures and all clinical definitions in the regression analysis (the odds ratio ranged from 8.31 to 18.96), according to the clinical definition to be predicted. Self-reported periodontal disease measures have excellent predictive and discriminative validity when tested against clinical definitions, and severity and extent of periodontal disease. © 2015 FDI World Dental Federation.

Orbital lymphoma associated with Graves’ disease: A case report

Directory of Open Access Journals (Sweden)

Hajduković Zoran

2014-01-01

Full Text Available Introduction. The presence of bilateral exophthalmos and palpebral, periorbital edema associated with hyperthyroidism is most often considered as an initial sign of Graves’ ophthalmopathy. However, in up to 20% of cases, Graves’ ophthalmopathy might precede the occurrence of hyperthyroidism, which is very important to be considered in the differential diagnosis, especially if it is stated as unilateral. Among other less common causes of non-thyroid-related orbitopathy, orbital lymphoma represents rare conditions. We presented of a patient with Graves’ disease, initially manifested as bilateral orbitopathy and progressive unilateral exophthalmos caused by the marginal zone B-cell non-Hodgkin lymphoma of the orbit. Case report. A 64-yearold man with the 3-year history of bilateral Graves’ orbitopathy and hyperthyroidism underwent the left orbital decompression surgery due to the predominantly left, unilateral worsening of exophthalmos resistant to the previously applied glucocorticoid therapy. A year after the surgical treatment, a substantial exophthalmos of the left eye was again observed, signifying that other non-thyroid pathology could be involved. Orbital ultrasound was suggestive of primary orbital lymphoma, what was confirmed by orbital CT scan and the biopsy of the tumor tissue. Detailed examinations indicated that the marginal zone B-cell non-Hodgkin lymphoma extended to IV - B-b CS, IPI 3 (bone marrow infiltration: m+ orbit+. Upon the completion of the polychemiotherapy and the radiation treatment, a complete remission of the disease was achieved. Conclusion. Even when elements clearly indicate the presence of thyroid-related ophthalmopathy, disease deteriorating should raise a suspicion and always lead to imaging procedures to exclude malignancy.

Development of standardized approaches to reporting of minimal residual disease data using a reporting software package designed within the European LeukemiaNet

DEFF Research Database (Denmark)

Ostergaard, M; Nyvold, Charlotte Guldborg; Jovanovic, J V

2011-01-01

Quantitative PCR (qPCR) for detection of fusion transcripts and overexpressed genes is a promising tool for following minimal residual disease (MRD) in patients with hematological malignancies. Its widespread clinical use has to some extent been hampered by differences in data analysis and presen......Quantitative PCR (qPCR) for detection of fusion transcripts and overexpressed genes is a promising tool for following minimal residual disease (MRD) in patients with hematological malignancies. Its widespread clinical use has to some extent been hampered by differences in data analysis...... and presentation that complicate multicenter clinical trials. To address these issues, we designed a highly flexible MRD-reporting software program, in which data from various qPCR platforms can be imported, processed, and presented in a uniform manner to generate intuitively understandable reports. The software...... was tested in a two-step quality control (QC) study; the first step involved eight centers, whose previous experience with the software ranged from none to extensive. The participants received cDNA from consecutive samples from a BCR-ABL+ chronic myeloid leukemia (CML) patient and an acute myeloid leukemia...

Kawasaki disease following Rocky Mountain spotted fever: a case report

Directory of Open Access Journals (Sweden)

Bal Aswine K

2009-07-01

Full Text Available Abstract Introduction Kawasaki disease is an idiopathic acute systemic vasculitis of childhood. Although it simulates the clinical features of many infectious diseases, an infectious etiology has not been established. This is the first reported case of Kawasaki disease following Rocky Mountain spotted fever. Case presentation We report the case of a 4-year-old girl who presented with fever and petechial rash. Serology confirmed Rocky Mountain spotted fever. While being treated with intravenous doxycycline, she developed swelling of her hands and feet. She had the clinical features of Kawasaki disease which resolved after therapy with intravenous immune globulin (IVIG and aspirin. Conclusion This case report suggests that Kawasaki disease can occur concurrently or immediately after a rickettsial illness such as Rocky Mountain spotted fever, hypothesizing an antigen-driven immune response to a rickettsial antigen.

Leiomyosarcoma of the Prostate: Case Report and Review of 54 Previously Published Cases

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Gerasimos P. Vandoros

2008-01-01

Full Text Available Prostate leiomyosarcoma is an extremely rare and highly aggressive neoplasm that accounts for less than 0.1% of primary prostate malignancies. We present a patient with primary leiomyosarcoma of the prostate and review 54 cases reported in the literature to discuss the clinical, diagnostic and therapeutic aspects of this uncommon tumor. Median survival was estimated at 17 months (95% C.I. 20.7–43.7 months and the 1-, 3-, and 5-year actuarial survival rates were 68%, 34%, and 26%, respectively. The only factors predictive of long-term survival were negative surgical margins and absence of metastatic disease at presentation. A multidisciplinary approach is necessary for appropriate management of this dire entity.

Menetrier's disease in childhood: a case report

International Nuclear Information System (INIS)

Souza, Luis Ronan Marques Ferreira de; Nogueira Filho, Jairo Ramos; Ferme, Andrea Langone; D'Ippolito, Giuseppe; Szejnfeld, Jacob; Goldman, Suzan Menasce

2005-01-01

Hypertrophic gastritis was described by Menetrier in 1888, and can be divided into two anatomical categories: occurrence of polyps and gastric mucosa hypertrophy. Menetrier's disease of the stomach affects mostly adults and occurs less frequently in children (less than 100 cases in the literature). The authors report the imaging findings in a child with Menetrier's disease, and present a brie review of the literature. (author)

Using Self-reports or Claims to Assess Disease Prevalence: It's Complicated.

Science.gov (United States)

St Clair, Patricia; Gaudette, Étienne; Zhao, Henu; Tysinger, Bryan; Seyedin, Roxanna; Goldman, Dana P

2017-08-01

Two common ways of measuring disease prevalence include: (1) using self-reported disease diagnosis from survey responses; and (2) using disease-specific diagnosis codes found in administrative data. Because they do not suffer from self-report biases, claims are often assumed to be more objective. However, it is not clear that claims always produce better prevalence estimates. Conduct an assessment of discrepancies between self-report and claims-based measures for 2 diseases in the US elderly to investigate definition, selection, and measurement error issues which may help explain divergence between claims and self-report estimates of prevalence. Self-reported data from 3 sources are included: the Health and Retirement Study, the Medicare Current Beneficiary Survey, and the National Health and Nutrition Examination Survey. Claims-based disease measurements are provided from Medicare claims linked to Health and Retirement Study and Medicare Current Beneficiary Survey participants, comprehensive claims data from a 20% random sample of Medicare enrollees, and private health insurance claims from Humana Inc. Prevalence of diagnosed disease in the US elderly are computed and compared across sources. Two medical conditions are considered: diabetes and heart attack. Comparisons of diagnosed diabetes and heart attack prevalence show similar trends by source, but claims differ from self-reports with regard to levels. Selection into insurance plans, disease definitions, and the reference period used by algorithms are identified as sources contributing to differences. Claims and self-reports both have strengths and weaknesses, which researchers need to consider when interpreting estimates of prevalence from these 2 sources.

Hyper-IgG4 disease: report and characterisation of a new disease

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Rodriguez-Justo Manuel

2006-10-01

Full Text Available Abstract Background We highlight a chronic inflammatory disease we call 'hyper-IgG4 disease', which has many synonyms depending on the organ involved, the country of origin and the year of the report. It is characterized histologically by a lymphoplasmacytic inflammation with IgG4-positive cells and exuberant fibrosis, which leaves dense fibrosis on resolution. A typical example is idiopathic retroperitoneal fibrosis, but the initial report in 2001 was of sclerosing pancreatitis. Methods We report an index case with fever and severe systemic disease. We have also reviewed the histology of 11 further patients with idiopathic retroperitoneal fibrosis for evidence of IgG4-expressing plasma cells, and examined a wide range of other inflammatory conditions and fibrotic diseases as organ-specific controls. We have reviewed the published literature for disease associations with idiopathic, systemic fibrosing conditions and the synonyms: pseudotumour, myofibroblastic tumour, plasma cell granuloma, systemic fibrosis, xanthofibrogranulomatosis, and multifocal fibrosclerosis. Results Histology from all 12 patients showed, to varying degrees, fibrosis, intense inflammatory cell infiltration with lymphocytes, plasma cells, scattered neutrophils, and sometimes eosinophilic aggregates, with venulitis and obliterative arteritis. The majority of lymphocytes were T cells that expressed CD8 and CD4, with scattered B-cell-rich small lymphoid follicles. In all cases, there was a significant increase in IgG4-positive plasma cells compared with controls. In two cases, biopsies before and after steroid treatment were available, and only scattered plasma cells were seen after treatment, none of them expressing IgG4. Review of the literature shows that although pathology commonly appears confined to one organ, patients can have systemic symptoms and fever. In the active period, there is an acute phase response with a high serum concentration of IgG, and during this phase

Adenylosuccinate lyase (ADSL) and infantile autism: Absence of previously reported point mutation

Energy Technology Data Exchange (ETDEWEB)

Fon, E.A.; Sarrazin, J.; Rouleau, G.A. [Montreal General Hospital (Canada)] [and others

1995-12-18

Autism is a heterogeneous neuropsychiatric syndrome of unknown etiology. There is evidence that a deficiency in the enzyme adenylosuccinate lyase (ADSL), essential for de novo purine biosynthesis, could be involved in the pathogenesis of certain cases. A point mutation in the ADSL gene, resulting in a predicted serine-to-proline substitution and conferring structural instability to the mutant enzyme, has been reported previously in 3 affected siblings. In order to determine the prevalence of the mutation, we PCR-amplified the exon spanning the site of this mutation from the genomic DNA of patients fulfilling DSM-III-R criteria for autistic disorder. None of the 119 patients tested were found to have this mutation. Furthermore, on preliminary screening using single-strand conformation polymorphism (SSCP), no novel mutations were detected in the coding sequence of four ADSL exons, spanning approximately 50% of the cDNA. In light of these findings, it appears that mutations in the ADSL gene represent a distinctly uncommon cause of autism. 12 refs., 2 figs.

Periodontal disease in a patient receiving Bevacizumab: a case report

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Gujral Dorothy M

2008-02-01

Full Text Available Abstract Introduction Bevacizumab is a monoclonal antibody that inhibits the action of vascular endothelial growth factor (VEGF thereby acting as an angiogenesis inhibitor. As a result, supply of oxygen and nutrients to tissues is impaired and tumour cell growth is reduced. Reported side effects due to bevacizumab are hypertension and increased risk of bleeding. Bowel perforation has also been reported. Periodontal disease in patients on bevacizumab therapy has not been reported before. Case Presentation We report a case of a forty-three year old woman who developed periodontitis whilst receiving bevacizumab for lung cancer. The periodontal disease remained stable on discontinuation of the drug. Conclusion Further investigations are needed to determine the mechanism for bevacizumab-induced periodontal disease.

The elusive baseline of marine disease: are diseases in ocean ecosystems increasing?

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Jessica R Ward

2004-04-01

Full Text Available Disease outbreaks alter the structure and function of marine ecosystems, directly affecting vertebrates (mammals, turtles, fish, invertebrates (corals, crustaceans, echinoderms, and plants (seagrasses. Previous studies suggest a recent increase in marine disease. However, lack of baseline data in most communities prevents a direct test of this hypothesis. We developed a proxy to evaluate a prediction of the increasing disease hypothesis: the proportion of scientific publications reporting disease increased in recent decades. This represents, to our knowledge, the first quantitative use of normalized trends in the literature to investigate an ecological hypothesis. We searched a literature database for reports of parasites and disease (hereafter "disease" in nine marine taxonomic groups from 1970 to 2001. Reports, normalized for research effort, increased in turtles, corals, mammals, urchins, and molluscs. No significant trends were detected for seagrasses, decapods, or sharks/rays (though disease occurred in these groups. Counter to the prediction, disease reports decreased in fishes. Formulating effective resource management policy requires understanding the basis and timing of marine disease events. Why disease outbreaks increased in some groups but not in others should be a priority for future investigation. The increase in several groups lends urgency to understanding disease dynamics, particularly since few viable options currently exist to mitigate disease in the oceans.

Osteopetrosis - Albers-Schoenberg disease: a case report

International Nuclear Information System (INIS)

Jeronymo, J.R.B.; Borba, L.A.N.

1989-01-01

The authors present a brief review of the literature and report a case of osteopetrosis tardo which was diagnosed by chance at the Hospital de Clinicas - Universidade Federal do Parana. This patient had no clinical manifestation of the disease. The radiological findings were characteristic of osteopetrosis and the absence of clinical signs confirm the tardo form of this rare disease, with the patient been well at 74 years of age. (author)

An Evaluation of Provincial Infectious Disease Surveillance Reports in Ontario

OpenAIRE

Chan, Ellen; Barnes, Morgan E.; Sharif, Omar

2017-01-01

Context: Public Health Ontario (PHO) publishes various infectious disease surveillance reports, but none have yet been formally evaluated. Objective: PHO evaluated its monthly and annual infectious disease surveillance reports to assess public health stakeholders' current perception of the products and to develop recommendations for improving future products. Design: An evaluation consisting of an online survey and a review of public Web sites of other jurisdictions with similar annual report...

Multiple symmetrical lipomatosis (Madelung's disease) - a case report

International Nuclear Information System (INIS)

Vieira, Marcelo Vasconcelos; Abreu, Marcelo de; Furtado, Claudia Dietz; Silveira, Marcio Fleck da; Furtado, Alvaro Porto Alegre; Genro, Carlos Horacio; Grazziotin, Rossano Ughini

2001-01-01

Multiple symmetrical lipomatosis (Madelung's disease) is a rare disorder characterized by deep accumulation of fat tissue, involving mainly the neck, shoulders and chest. This disease is associated with heavy alcohol intake and it is more common in men of Mediterranean origin. This disease can cause severe aesthetic deformities and progressive respiratory dysfunction. We report a case of a patient with multiple symmetrical lipomatosis and describe the clinical and radiological features of this disorder. (author)

Lyme disease: case report of persistent Lyme disease from Pulaski County, Virginia

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Palmieri JR

2013-12-01

Full Text Available James R Palmieri,1 Scott King,1 Matthew Case,1 Arben Santo21Department of Microbiology, Infectious and Emerging Diseases, 2Department of Pathology, Edward Via College of Osteopathic Medicine, Blacksburg, VA, USAAbstract: A 50-year-old woman from Pulaski, Virginia, presented to a local clinic with headaches, fever, generalized joint pain, excessive thirst and fluid intake, and a progressing rash on her back. On physical examination, she had a large circular red rash on her back with a bull's-eye appearance, 16 × 18 cm in diameter. Serologic tests confirmed a diagnosis of Lyme disease. The patient could recall a walk through the woods 3 weeks prior, although she never noticed a tick on her body. Following a prolonged course of antibiotics, this case report presents a patient with ongoing symptoms consistent with post-treatment Lyme disease.Keywords: arthritis, chronic Lyme disease (CLD, ELISA, erythema migrans, ixodid ticks, Lyme disease, post-treatment Lyme disease syndrome (PTLDS, Western blotting

A diagnostic dilemma: Left-sided appendicitis in a 10 year old boy with previously undiagnosed intestinal malrotation. A case report

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Ashvini Shekhar

2015-01-01

Conclusion: Left sided acute appendicitis is a diagnostic dilemma, thus often leading to management delays. It is pertinent to remember that malrotation of the gut is more common than previously thought, and not just a disease of infancy. It is advisable to consider imaging studies while balancing the risk-benefit-ratio of radiation exposure, especially in paediatric cases to cinch the diagnosis.

Vocal symptoms in Parkinson disease treated with levodopa. A case report.

Science.gov (United States)

Schley, W S; Fenton, E; Niimi, S

1982-01-01

This is a report of a patient with unusually severe hoarseness in the absence of vocal fold pathology demonstrating Parkinson disease as one of the neurological diseases in which vocal symptoms occur. Although it is classifiably a severe, progressive, degenerative disorder, the popularity of pharmacotherapy for Parkinson disease during the past decade has resulted in improved functionality for an undetermined course of time in most patients. The classically described deterioration of speech ad voice may develop in a variant manner difficult to distinguish as disease-related, as this case report illustrates. An explanation of the hoarseness based on dyssynchronous vocal fold motion related to the disease is suggested by the acoustic methods (spectrography, waveform analysis) used in this study, and supported by strobe light laryngoscopy. This conclusion is important because of the extremely high incidences of varying degrees of hoarseness reported in recent studies of Parkinson disease.

Seasonal ataxia: a case report of a disappearing disease

African Journals Online (AJOL)

Seasonal ataxia: a case report of a disappearing disease. Adebiyi Ayoade ... ological profiles of the disease. ... low serum albumin levels [8] act as a potentiating factor to trigger the ... 65% neutrophils, 25% lymphocytes,eosinophils 5% and.

Pushing the boundaries in liver graft utilisation in transplantation: Case report of a donor with previous bile duct injury repair.

Science.gov (United States)

Sultana, Asma; Powell, James J; Oniscu, Gabriel C

2017-01-01

Liver transplantation is a recognised treatment for extensive bile duct injuries with secondary biliary cirrhosis or recurring sepsis. However, there have been no reports of successful liver transplantation from a donor who sustained a previous bile duct injury. Here we discuss the case of a liver transplant from a 51-year-old brain dead donor who had suffered a Strasberg E1 bile duct injury and had undergone a Roux-en-Y hepaticojejunostomy 24 years prior to donation. The liver was successfully recovered and transplanted into a 56-year-old male recipient with end stage liver disease consequent to alpha 1 antitrypsin deficiency. The graft continues to function well 36 months post-transplant, with normal liver function tests and imaging revealing a patent hepaticojejunostomy. The potential associated vascular injuries should be identified during bench preparation whilst the management of biliary reconstruction at the time of transplant should follow the principles of biliary reconstruction in cases with biliary injuries, extending the hilar opening into the left duct. This case highlights the successful utilisation of a post bile duct injury repair liver, employing an experienced procurement team and careful bench assessment and reconstruction. Copyright © 2017. Published by Elsevier Ltd.

Addison's Disease Mimicking as Acute Pancreatitis: A Case Report.

Science.gov (United States)

Chaudhuri, Sayani; Rao, Karthik N; Patil, Navin; Ommurugan, Balaji; Varghese, George

2017-04-01

Over past two decades there has been significant improvement in medical field in elucidating the underlying pathophysiology and genetics of Addison's disease. Adrenal insufficiency (Addison's disease) is a rare disease with an incidence of 0.8/100,000 cases. The diagnosis may be delayed if the clinical presentation mimics a gastrointestinal disorder or psychiatric illness. We report a case of Addison's disease presenting as acute pain in abdomen mimicking clinical presentation of acute pancreatitis.

[Lessons from abroad. Current and previous crisis in other countries. SESPAS report 2014].

Science.gov (United States)

Rivadeneyra-Sicilia, Ana; Minué Lorenzo, Sergio; Artundo Purroy, Carlos; Márquez Calderón, Soledad

2014-06-01

The evidence available on the impact of previous crises on health reveals different patterns attributable to study designs, the characteristics of each crisis, and other factors related to the socioeconomic and political context. There is greater consensus on the mediating role of government policy responses to financial crises. These responses may magnify or mitigate the adverse effects of crises on population health. Some studies have shown a significant deterioration in some health indicators in the context of the current crisis, mainly in relation to mental health and communicable diseases. Alcohol and tobacco use have also declined in some European countries. In addition, this crisis is being used by some governments to push reforms aimed at privatizing health services, thereby restricting the right to health and healthcare. Specifically, action is being taken on the three axes that determine health system financing: the population covered, the scope of services, and the share of the costs covered. These measures are often arbitrarily implemented based on ideological decisions rather than on the available evidence and therefore adverse consequences are to be expected in terms of financial protection, efficiency, and equity. Copyright © 2013 SESPAS. Published by Elsevier Espana. All rights reserved.

Anti-glomerular basement membrane disease superimposed on membranous nephropathy: a case report and review of the literature

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Nivera Noel

2010-08-01

Full Text Available Abstract Introduction Anti-glomerular basement membrane disease is a rare autoimmune disorder characterized by pulmonary hemorrhage, crescentic glomerulonephritis and the presence of circulating anti-glomerular basement membrane antibodies. The simultaneous occurrence of both anti-glomerular basement membrane disease and membranous nephropathy is rare. Case presentation A 59-year-old Hispanic man presented with acute onset of nausea and vomiting and was found to have renal insufficiency. Work-up included a kidney biopsy, which revealed anti-glomerular basement membrane disease with underlying membranous nephropathy. He was treated with emergent hemodialysis, intravenous corticosteroids, plasmapheresis, and cyclophosphamide without improvement in his renal function. Conclusion Simultaneous anti-glomerular basement membrane disease and membranous nephropathy is very rare. There have been 16 previous case reports in the English language literature that have been associated with a high mortality and morbidity, and a very high rate of renal failure resulting in hemodialysis. Co-existence of membranous nephropathy and anti-glomerular basement membrane disease may be immune-mediated, although the exact mechanism is not clear.

Auditory and optic neuropathy in Kjer's disease : case report

NARCIS (Netherlands)

Haaksma-Schaafsma, S. C.; van Dijk, P.; Dikkers, F. G.

Objective: Description of a female patient with diagnosed Kjer's disease and sensorineural hearing loss, who specifically complained of a progressive inability to understand speech in noisy situations. Design: Case report. Subject: A 30-year-old, Caucasian woman with Kjer's disease. Results:

Gaucher's disease

International Nuclear Information System (INIS)

Hainaux, B.; Christophe, C.; Hanquinet, S.; Perlmutter, N.

1992-01-01

We report our observations made by conventional radiography, ultrasound, computerized tomography (CT), and magnetic resonance imaging (MRI) on a 3 1/2-year-old girl with Gaucher's disease. The interest of the case consists in the exceptional lungs involvement, the demonstration by MRI of the bone marrow involvement and the necrosis and fibrosis of the liver, as shown by CT. This liver complication has been previously reported only once. (orig.)

Tay Sachs disease: an autopsy case report.

Science.gov (United States)

Jadhav, Meenal Vitthal; Landge, Meenal P; Sawaimoon, Satyakam K; Harke, Arun B; Deshmukh, Sanjay D

2005-10-01

This report describes a case report of a postmortem performed on a 5-year old patient of Tay-Sachs disease, presenting with failure to thrive, muscular flaccidity, and cherry-red spots on macula on fundoscopy. There was no history of similarly affected sibling or any other family member. The diagnosis was confirmed by enzyme studies. At postmortem, there was no organomegaly. The brain, on microscopy, showed vacuolated swollen neurons.

Cerebral Metastasis from a Previously Undiagnosed Appendiceal Adenocarcinoma

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Antonio Biroli

2012-01-01

Full Text Available Brain metastases arise in 10%–40% of all cancer patients. Up to one third of the patients do not have previous cancer history. We report a case of a 67-years-old male patient who presented with confusion, tremor, and apraxia. A brain MRI revealed an isolated right temporal lobe lesion. A thorax-abdomen-pelvis CT scan showed no primary lesion. The patient underwent a craniotomy with gross-total resection. Histopathology revealed an intestinal-type adenocarcinoma. A colonoscopy found no primary lesion, but a PET-CT scan showed elevated FDG uptake in the appendiceal nodule. A right hemicolectomy was performed, and the specimen showed a moderately differentiated mucinous appendiceal adenocarcinoma. Whole brain radiotherapy was administrated. A subsequent thorax-abdomen CT scan revealed multiple lung and hepatic metastasis. Seven months later, the patient died of disease progression. In cases of undiagnosed primary lesions, patients present in better general condition, but overall survival does not change. Eventual identification of the primary tumor does not affect survival. PET/CT might be a helpful tool in detecting lesions of the appendiceal region. To the best of our knowledge, such a case was never reported in the literature, and an appendiceal malignancy should be suspected in patients with brain metastasis from an undiagnosed primary tumor.

Anaesthesiological implications of Kimura's disease: a case report

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Sorbello Massimiliano

2009-06-01

Full Text Available Abstract Introduction Kimura's disease is a chronic inflammatory condition belonging to the angio-lymphatic proliferative group of disorders, usually affecting young men of Asian race, but is rare in Western countries. It is a benign but locally injurious disease, of unknown aetiology, whose classical clinical features are a tumour-like swelling, usually in the head and neck, with or without satellite lymphadenopathy, often accompanied by eosinophilia and elevated serum IgE. Case presentation We report the case of a 33-year-old Caucasian woman with an atypical localization of Kimura's disease, discussing the anaesthesiological implications and reviewing the current literature on Kimura's disease. Conclusions The diagnosis of Kimura's disease can be difficult and misleading, and anaesthesiological precautions could be ignored. Patients with this disease are often evaluated for other disorders: unnecessary diagnostic tests and investigations, or even surgery, may be avoided by just being aware of Kimura's disease.

A Patient with Autoimmune Pancreatitis Type 1 with Previously Known Lymphadenopathy, Both in the Context of IgG4-related Disease.

Science.gov (United States)

Alidjan, Fazil M; Karim, Faiz; Verdijk, Rob M; van Esser, Joost W; van Heerde, Marianne J

2015-11-05

Autoimmune pancreatitis (AIP) is an important clinical pathologic concept of IgG-4-related disease. AIP is a rare cause of chronic pancreatitis, characterized by a fibroinflammatory process by lymphoplasmacytic infiltrates, storiform fibrosis, obliterative phlebitis, and increased IgG4+ plasma cells, leading to dysfunction of the pancreas. Affected patients with AIP frequently have disease affecting other organs or sites with similar histologic changes, elevated IgG4+ plasma cell infiltrate, and good response to corticosteroid therapy. These diseases often are not limited to the pancreas and the pancreas may not be involved at all. We report a 62-year-old man with obstructive jaundice with pre-existent submandibular lymphadenopathy. Diagnosis of AIP was based on diagnostic criteria by the HISORT-criteria in combination with elevated IgG-4 serum levels. CT revealed a focal enlargement of the head of the pancreas, as well as mesenteric peripancreatic and mediastinal lymphadenopathy. He was treated with high-dose steroid in combination with azathioprine and showed good clinical response. We report a case with pre-existent submandibular lymphadenopathy and obstructive jaundice based on AIP type 1, both in the context of IgG4-related disease.

Cortical involvement of marchiafava-bignami disease: a case report

Energy Technology Data Exchange (ETDEWEB)

Jang, Han Won [Yeungnam University College of Medicine, Daegu (Korea, Republic of)

2007-03-15

Marchiafava-Bignami disease is a rare complication of chronic alcoholism and this malady typically manifests as callosal lesion. I report here on one patient with Marchiafava-bignami disease (MBD) who has symmetric restricted diffusion in both lateral-frontal cortices, in addition to the callosal lesion.

Disease flare of ankylosing spondylitis presenting as reactive arthritis with seropositivity: a case report

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Manoj EM

2012-02-01

Full Text Available Abstract Introduction Concurrent rheumatoid factor seropositivity is occasionally detected in ankylosing spondylitis and often causes confusion in clinical routine. Overlap between various seronegative arthritides is a known but uncommon association. Differentiation of spondyloarthropathy from rheumatoid arthritis is important, since the natural history, complications, treatments and prognosis of the two diseases differ significantly. Case presentation Here, we report the case of a 47-year-old Sri Lankan man who had a long history of intermittent joint pains worsening following a recent episode of self-resolving non-bloody diarrhea. Subsequently, he developed a skin rash suggestive of keratoderma blenorrhagica and circinate balanitis. He had classical radiological evidence of ankylosing spondylosis (previously undiagnosed associated with human leukocyte antigen B27 antigen, but was positive for rheumatoid factor. Conclusions A disease flare of ankylosing spondylitis prompted by a minor diarrheal illness showing well documented features of reactive arthritis is remarkable. The prognostic implications of seropositivity in spondyloarthritis are discussed.

Is there an association between Fahr′s disease and cardiac conduction system disease?: A case report

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Prashanth Panduranga

2012-01-01

Full Text Available Background: Fahr′s disease is a rare neurodegenerative disorder of unknown cause characterized by idiopathic basal ganglia calcification that is associated with neuropsychiatric and cognitive impairment. No case of Fahr′s disease with associated cardiac conduction disease has been described in the literature to date. The objective of this case report was to describe a young female with various cardiac conduction system abnormalities and bilateral basal ganglia calcifica-tion suggestive of Fahr′s disease. Case Report: A 19-year-old female was transferred to our hospital for a pacemaker insertion. Her past medical history included cognitive impairment and asymptomatic congenital complete heart block since birth. Her manifestations in-cluded cognitive impairment, tremors, rigidity, ataxia, bilateral basal ganglia calcification without clinical manifesta-tions of mitochondrial cytopathy. She also had right bundle branch block, left anterior fascicular block, intermittent complete heart block, atrial arrhythmias with advanced atrioventricular blocks and ventricular asystole manifested by Stokes-Adams seizures, which was diagnosed as epilepsy. Conclusions: According to our knowledge, this was the first case report of a su spected association between Fahr′s disease and isolated cardiac conduction system disease. In addition, this case illustrated that in patients with heart blocks and seizures, a diagnosis of epilepsy needs to be made with caution and such patients need further evaluations by a cardiologist or electrophysiologist to consider pacing and prevent future catastrophic events.

McArdle disease: a case report and review

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Leite A

2012-01-01

Full Text Available Alberto Leite, Narciso Oliveira, Manuela RochaInternal Medicine Department, Hospital de Braga, PortugalAbstract: McArdle disease (glycogen storage disease type V is a pure myopathy caused by an inherited deficit of myophosphorylase. The disease exhibits clinical heterogeneity, but patients typically experience exercise intolerance, acute crises of early fatigue, and contractures, sometimes with rhabdomyolysis and myoglobinuria, triggered by static muscle contractions or dynamic exercise. We present the case of a 54-year-old man with a lifelong history of fatigability, worsening on exertion. Laboratory evaluation revealed significant elevations in levels of creatine kinase (7924 U/L, lactate dehydrogenase (624 U/L, and myoglobulin (671 ng/mL. A muscle biopsy confirmed the presence of McArdle disease. This case report illustrates how, due to embarrassment, the patient hid his symptoms for many years and was eventually extremely relieved and “liberated” once McArdle disease was diagnosed 40 years later.Keywords: McArdle disease, glycogen storage disease, myophosphorylase

Predicting changes in reported notifiable disease rates for New Zealand using a SIR modelling approach

Science.gov (United States)

McBride, Graham; Slaney, David; Tait, Andrew

2013-04-01

The New Zealand health system has defined as 'notifiable' over 50 diseases. Of these campylobacteriosis is the most commonly reported comprising 41% of all notifications in 2011 (presently about 150 illness cases per 100,000 population per annum). Furthermore, the incidence of this mild illness, which is potentially waterborne, is under-reported by at least an order-of-magnitude. Increased downstream pathogen loads and/or disease incidence have been found to be associated with increased rainfall, particularly in agricultural landscapes. Therefore, given the predominance of agricultural land uses in New Zealand, transmission and exposure to its agent (thermotolerant Campylobacter bacteria) may be affected by changing rainfall and temperature patterns associated with climate change. Reporting rates for other potentially water-borne zoonoses are also noticeable (for example, the reported rate for cryptosporidiosis for 2011 was 14 per 100,000 population). The distribution of Cryptosporidium oocysts in the environment may be influenced by climate change because it has often been implicated in drinking-water contamination, and heavy rainfall events have been found to be associated with increased pathogen loads in rivers and disease incidence. Given this background, which may also be applicable to other countries with agriculturally-dominated landscapes, a New Zealand study was initiated to develop a decision-support system for the projected effects of climate change on a selected suite of environmentally-transmitted pathogens, including Campylobacter and Cryptosporodium oocysts. Herein we report on the manner in which a linear SIR (Susceptible-Ill-Recovered) model previously developed for campylobacteriosis can be extended to cryptosporidiosis, applied to changes in pathogen contact rate and hence reported illness, and coupled to climate change projections associated with different greenhouse gas emission scenarios. The resulting SIR model outputs provided projected

Outline of the report on cardiovascular disease in China, 2010.

Science.gov (United States)

Hu, Sheng Shou; Kong, Ling Zhi; Gao, Run Lin; Zhu, Man Lu; Wang, Wen; Wang, Yong Jun; Wu, Zhao Su; Chen, Wei Wei; Liu, Ming Bo

2012-06-01

Major and profound changes have taken place in China over the past 30 years. Rapid socioeconomic progress has exerted a great impact on lifestyle, ranging from food, clothing, working and living conditions, and means of transportation to leisure activities and entertainment. At the same time, new health problems have emerged, and health services are facing new challenges. Presently, cardiovascular diseases (CVD) are among the top health problems of the Chinese people, and pose a serious challenge to all engaged in the prevention and control of these diseases. An epidemic of CVD in China is emerging as a result of lifestyle changes, urbanization and longevity. Both national policy decision-making and medical practice urgently need an authoritative report which comprehensively reflects the trends in the epidemic of CVD and current preventive measures. Since 2005, guided by the Bureau of Disease Prevention of the Ministry of Health of the People's Republic of China and the National Center for Cardiovascular Diseases of China, nationwide experts in the fields of epidemiology, clinical medicine and health economics in the realms of CVD, cerebrovascular disease, diabetes and chronic kidney disease, completed the Report on Cardiovascular Diseases in China every year. The report aims to provide a timely review of the trend of the epidemic and to assess the progress of prevention and control of CVD. In addition, as the report is authoritative, representative and readable, it will become an information platform in the CVD field and an important reference book for government, academic institutes, medical organizations and clinical physicians. This publication is expected to play a positive role in the prevention and control of CVD in China. We present an abstract from the Report on Cardiovascular Diseases in China (2010), including trends in CVD, morbidity and mortality of major CVDs, up-to-date assessment of risk factors, as well as health resources for CVD, and a profile of

[Epidemic parotiditis, a reportable disease].

Science.gov (United States)

Boverhoff, J C; Baart, J A

2013-01-01

Three consecutive patients with an acute swelling of one of the cheeks, were diagnosed with epidemic parotiditis. The first phase of the diagnostic procedure for an acute cheek swelling is to eliminate the possibility of odontogenic causes. When odontogenic problems have been excluded, non-dentition-related causes may be considered. An acute, progressive swelling in the preauricular area can often be attributed to an inflammation of the parotid gland, but epidemic parotiditis should also be considered. Epidemic parotiditis, or mumps, is caused by the mumps virus. Contamination occurs aerogenically. In the Netherlands, mumps vaccine is an ingredient of the governmental combined mump-measles-rubella inoculation programme. However, in recent years several small-scale parotiditis epidemics have broken out, predominantly among young, inoculated adults. Oropharyngeal mucus and blood samples are needed to diagnose the disease. Each case of the disease should be reported to the community healthcare service.

Grover's Disease after Heart Transplantation: A Case Report

Directory of Open Access Journals (Sweden)

Giovanbattista Ippoliti

2012-01-01

Full Text Available Grover's disease is a transient acantholytic dermatosis of unknown cause, manifesting clinically as a papular skin eruption that is usually located on the anterior chest and abdomen. Histologically characterized by an acantholytic pattern, it has been associated with numerous disorders, including hematologic malignancies, chronic renal failure, and HIV infection, as well as with chemotherapy and bone marrow and/or kidney transplant. Evaluation of followup and treatment is often complicated by spontaneous remission and the occasionally fluctuant course of the disease. Here we report the case of a patient with sudden onset of Grover's disease after heart transplantation. To the best of our knowledge, this is the first observation of Grover's disease as diagnosed after heart transplantation.

Validity of information on atopic disease and other illness in young children reported by parents in a prospective birth cohort study

DEFF Research Database (Denmark)

Vissing, Nadja Hawwa; Jensen, Signe Marie; Bisgaard, Hans

2012-01-01

ABSTRACT: BACKGROUND: The longitudinal birth cohort study is the preferred design for studies of childhood health, particularly atopic disease. Still, prospective data collection depends on recollection of the medical history since the previous visit representing a potential recall-bias. We aimed...... reference. RESULTS: A total of 6134 medical events were reported at the COPSAC interviews. Additional 586 medical events were recorded by family practitioners but not reported at the interview. There were no missed events related to asthma, eczema or allergy. Respiratory, infectious and skin related...

Spontaneous remission of Crohn's disease following a febrile infection: case report and literature review

Directory of Open Access Journals (Sweden)

van Netten Johannes P

2011-05-01

Full Text Available Abstract Crohn's disease is a chronic illness that may often follow a relapsing-remitting course. Many of the factors that may be associated with the spontaneous remission of this disease (i.e. not related to specific treatment remain to be determined. In the present report, we review the medical history of a patient with a long history of moderate to severe Crohn's whose complete remission immediately followed the development of a febrile infection. The patient first developed symptoms of Crohn's in her late adolescent years. At the time of diagnosis at age 23, she was placed on mesalamine - without effective control her disease symptoms. Due to progressive deterioration, the patient underwent a bowel resection at age 25. Soon afterwards symptoms recurred, gradually increasing in severity. In February 2005, at age 36, the patient developed a painful abscess associated with a rectal fistula. Other symptoms at the time included chronic bone and stomach pain, swollen joints, and debilitating fatigue. Surgical correction was scheduled in mid-March. In late February, the patient developed a respiratory infection associated with fevers of 103-104°F. After the onset of fever, the abscess pain disappeared and this was soon followed by a disappearance of all other disease symptoms. By the time the corrective surgery occurred, she had no Crohn's symptoms. Her remission lasted 10 weeks when the previous symptoms then reappeared. The patient has subsequently used a variety of conventional therapies, but still suffers from severe symptoms of her disease. In recent years, a growing body of literature has emphasized the important role that innate immunity plays in the etiology of Crohn's disease; however, a key component of innate immunity, the febrile response, has been overlooked. Other cases of spontaneous remission following febrile infection in inflammatory bowel disease have been reported. Moreover, induction of a febrile response was in the past used

The motor and cognitive features of Parkinson's disease in patients with concurrent Gaucher disease over 2 years: a case series.

Science.gov (United States)

Collins, Lucy M; Williams-Gray, Caroline H; Morris, Elizabeth; Deegan, Patrick; Cox, Timothy M; Barker, Roger A

2018-05-29

We report the cognitive features and progression of Parkinson's disease (PD) in five patients with concurrent Gaucher disease. The patients presented at an earlier age than patients with sporadic PD, as previously noted by others; but in contrast to many previous reports, our patients followed a variable clinical course. While two patients developed early cognitive deficits and dementia, three others remained cognitively intact over the follow-up period. Thus, in this small case series, PD in the context of GD more closely resembles idiopathic PD in terms of its clinical heterogeneity in contrast to PD associated with GBA heterozygote mutations.

Sudden unexpected death in children with a previously diagnosed cardiovascular disorder

NARCIS (Netherlands)

Polderman, Florens N.; Cohen, Joeri; Blom, Nico A.; Delhaas, Tammo; Helbing, Wim A.; Lam, Jan; Sobotka-Plojhar, Marta A.; Temmerman, Arno M.; Sreeram, Narayanswani

2004-01-01

BACKGROUND: It is known that children with previously diagnosed heart defects die suddenly. The causes of death are often unknown. OBJECTIVE: The aim of the study was to identify all infants and children within the Netherlands with previously diagnosed heart disease who had a sudden unexpected death

Sudden unexpected death in children with a previously diagnosed cardiovascular disorder

NARCIS (Netherlands)

Polderman, F.N.; Cohen, Joeri; Blom, N.A.; Delhaas, T.; Helbing, W.A.; Lam, J.; Sobotka-Plojhar, M.A.; Temmerman, Arno M.; Sreeram, N.

2004-01-01

Background: It is known that children with previously diagnosed heart defects die suddenly. The causes of death are often unknown. Objective: The aim of the study was to identify all infants and children within the Netherlands with previously diagnosed heart disease who had a sudden unexpected death

An Evaluation of Provincial Infectious Disease Surveillance Reports in Ontario.

Science.gov (United States)

Chan, Ellen; Barnes, Morgan E; Sharif, Omar

Public Health Ontario (PHO) publishes various infectious disease surveillance reports, but none have yet been formally evaluated. PHO evaluated its monthly and annual infectious disease surveillance reports to assess public health stakeholders' current perception of the products and to develop recommendations for improving future products. An evaluation consisting of an online survey and a review of public Web sites of other jurisdictions with similar annual reports. For the online survey, stakeholder organizations targeted were the 36 local public health units and the Health health ministry in Ontario, Canada. Survey participants included epidemiologists, managers, directors, and other public health practitioners from participating organizations. Online survey respondents' awareness and access to the reports, their rated usefulness of reports and subsections, and suggestions for improving usefulness; timeliness of select annual reports from other jurisdictions based on the period from data described to report publication. Among 57 survey respondents, between 74% and 97% rated each report as useful; the most common use was for situational awareness. Respondents ranked timeliness as the most important attribute of surveillance reports, followed by data completeness. Among 6 annual reports reviewed, the median time to publication was 11.5 months compared with 23.2 months for PHO. Recommendations based on this evaluation have already been applied to the monthly report (eg, focusing on the most useful sections) and have become key considerations when developing future annual reports and other surveillance reporting tools (eg, need to provide more timely reports). Other public health organizations may also use this evaluation to inform aspects of their surveillance report development and evaluation. The evaluation results have provided PHO with direction on how to improve its provincial infectious disease surveillance reporting moving forward, and formed a basis for

Pulmonary veno-occlusive disease Report of case and revision of the literature

International Nuclear Information System (INIS)

Jimenez Q, Andres; Palacios, Diana; Camacho D, Fidel

2008-01-01

The real incidence of veno-occlusive pulmonary disease (VOPD) is unknown because it is largely under diagnosed or is not classified as primary pulmonary hypertension, being in fact a variant of the primary disease, primarily affecting post-capillary pulmonary vasculature. It is also known as isolated pulmonary venous sclerosis, obstructive disease of the pulmonary veins or primary pulmonary hypertension of the venous type. VOPD is the result of multiple aggressors associated to a great variety of risk factors. The diagnosis of the disease requires clinical, radiological and pathological features. Vasodilators, immunosuppressants, anticoagulation and oxygen have been proposed as treatments with a poor prognosis, and with reported survival limited by the scarce reporting of cases. We report a case of veno-occlusive pulmonary disease which was diagnosed in this institution.

Ocular manifestations of Gaucher disease: case report and literature review

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Mejía-Turizo, Juan Carlos

2017-07-01

Full Text Available We report the case of a patient with Gaucher disease (GD type 3b, with a homozygous GBA gene mutation (c.1448T > C p.L483P (L444P. Ocular findings characteristic of this mutation are described, including vitreous condensation and macular edema. To our knowledge this is the first case reported in Colombia with these characteristics. A review of the ocular manifestations of this disease is also presented.

Relationship between health behaviors and self-reported diseases by public employees

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Janaina Maria Setto

Full Text Available Abstract Introduction: Life habits such as physical activity, leisure, eating habits, stress, smoking, and alcohol consumption can directly affect individuals' health. Objective: This study aimed to investigate the relationship between health behaviors and diseases self-reported by employees of a federal public university in southeastern Brazil. Methods: This cross-sectional study included 815 employees, of whom 347 were teachers and 468 were technical-administrative staff, aged between 20 and 65 years old. Data from this study were collected from a secondary database, from the Health Questionnaire (self-reported health conditions by teachers and technical-administrative employees, and from the institution's Vice Dean of Community Affairs. Among the variables assessed, the relationship between eating habits, physical activity, smoking, alcohol consumption, and self-reported illnesses (chronic diseases and infectious and parasitic diseases diagnosed by a doctor within the last 12 months was analyzed. Results: The mean prevalence of these diseases among teachers and technical-administrative staff was 3.1 and 2.9, respectively. This study showed a statistically significant association between unhealthy diet and cerebrovascular accidents; between irregular performance of physical activity/sedentary lifestyle and endocrine/nutritional/metabolic and digestive diseases; between overweight and cardiovascular diseases, endocrine/nutritional/metabolic diseases, diabetes mellitus, and hypertension; and between smoking and musculoskeletal diseases. Conclusion: We suggest the adoption of preventative measures and the control of risk behaviors among these employees.

Unilateral Darier’s disease – case report

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Jolanta Węgłowska

2017-11-01

Full Text Available Introduction . Darier’s disease (dyskeratosis follicularis, keratosis follicularis, Darier-White disease, Darier disease is a rare genodermatosis inherited in autosomal dominant manner, caused by a mutation in the ATP2A2 gene located on chromosome 12. The gene encodes SERCA2 ATPase, an enzyme responsible for the metabolism of calcium ions in the endoplasmic reticulum. Darier’s disease is characterized by small brown hyperkeratotic papules which appear already in childhood or early adolescence. Skin lesions are located primarily in seborrhoeic areas. In addition to typical skin eruptions, the clinical picture may include involvement of the nails and mucous membranes. The histopathological pattern is characterized by the coexistence of two abnormalities: acantholysis and dyskeratosis. Objective . To present and discuss a case of unilateral Darier’s disease diagnosed and treated at our medical centre. Case report . We present the case of a 46-year old woman with Darier’s disease manifesting as skin lesions in the form of typical hyperkeratotic papules localized on the left part of the trunk and on left-side limbs. The diagnosis was made on the basis of clinical features and histopathological findings. A good therapeutic effect was achieved after introducing treatment with acitretin at a dose of 25 mg/day. Conclusions . The case presented is interesting because of the rarity of unilateral Darier’s disease.

Aorto-iliac occlusive disease in the different population groups ...

African Journals Online (AJOL)

Background. It has previously been accepted that atherosclerotic disease is uncommon among blacks worldv.ride; however, recent studies have increasingly reported atherosclerotic disease in this group. Study design. Prospective study of hospital patients with aorta-iliac occlusive disease presenting to the vascUlar ...

Enhancing disease surveillance reporting using public transport in ...

African Journals Online (AJOL)

Enhancing disease surveillance reporting using public transport in Dodoma District, Central Tanzania. ... LEG Mboera, SF Rumisha, EJ Mwanemile, E Mziwanda, PK Mmbuji ... Full Text: EMAIL FREE FULL TEXT EMAIL FREE FULL TEXT

Accuracy of Herdsmen Reporting versus Serologic Testing for Estimating Foot-and-Mouth Disease Prevalence

Science.gov (United States)

Handel, Ian G.; Tanya, Vincent N.; Hamman, Saidou M.; Nfon, Charles; Bergman, Ingrid E.; Malirat, Viviana; Sorensen, Karl J.; Bronsvoort, Barend M. de C.

2014-01-01

Herdsman-reported disease prevalence is widely used in veterinary epidemiologic studies, especially for diseases with visible external lesions; however, the accuracy of such reports is rarely validated. Thus, we used latent class analysis in a Bayesian framework to compare sensitivity and specificity of herdsman reporting with virus neutralization testing and use of 3 nonstructural protein ELISAs for estimates of foot-and-mouth disease (FMD) prevalence on the Adamawa plateau of Cameroon in 2000. Herdsman-reported estimates in this FMD-endemic area were comparable to those obtained from serologic testing. To harness to this cost-effective resource of monitoring emerging infectious diseases, we suggest that estimates of the sensitivity and specificity of herdsmen reporting should be done in parallel with serologic surveys of other animal diseases. PMID:25417556

The Coexistence of Coeliac Disease, Psoriasis and Vitiligo

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Sevgi Akarsu

2010-06-01

Full Text Available It has been defined that coeliac disease is associated with most of the autoimmune diseases including psoriasis and vitiligo. Here, a 26-year-old woman who was diagnosed palmoplantar pustular psoriasis and already had coeliac disease and vitiligo is reported. According to our opinions, this is the first report describing the development of these three disorders in one patient, even though vitiligo, psoriasis and coeliac disease are common disorders, and the coexistence of the two of them has been previously reported in the literature. This case has been presented to emphasize the importance of considering and inquiring the possible coeliac disease in chronic and autoimmune dermatoses, although psoriasis and vitiligo may have coincidental associations with coeliac disease.

A case of primary osseous pelvic hydatid disease (echinococcus granulosus)

Energy Technology Data Exchange (ETDEWEB)

Sinner, W.N. von (King Faisal Specialist Hospital and Research Centre, Riyadh (Saudi Arabia). Dept. of Radiology)

1991-07-01

Primary bone involvement in hydatid disease (HD) is rare. Sporadic reports estimate its prevalence to 1%. Only a few cases have been reported where CT has been used. Magnetic resonance imaging (MRI) of primary pelvic skeletal hydatid disease has, to my best knowledge, previously not been published. This report deals with a case of primary hydatid disease of the right ilium and the sacrum examined by plain film radiography. CT and MRI confirmed by pathology. (orig.).

A case of primary osseous pelvic hydatid disease (echinococcus granulosus)

International Nuclear Information System (INIS)

Sinner, W.N. von

1991-01-01

Primary bone involvement in hydatid disease (HD) is rare. Sporadic reports estimate its prevalence to 1%. Only a few cases have been reported where CT has been used. Magnetic resonance imaging (MRI) of primary pelvic skeletal hydatid disease has, to my best knowledge, previously not been published. This report deals with a case of primary hydatid disease of the right ilium and the sacrum examined by plain film radiography. CT and MRI confirmed by pathology. (orig.)

Diaphragm disease of the small intestine: an interesting case report.

Science.gov (United States)

Ullah, Sana; Ajab, Shereen; Rao, Rajashekhar; Raghunathan, Girish; DaCosta, Philip

2015-06-01

Diaphragm disease of small intestine usually presents with nonspecific clinical features. Radiological investigations often fail to differentiate it from small intestinal tumors and inflammatory bowel disease. It is therefore diagnosed on final histology after surgical resection. We hereby report an interesting case of a suspected small bowel tumor later diagnosed as diaphragm disease on histology. © The Author(s) 2014.

A patient with Cushing disease lateralizing a pituitary adenoma by inferior petrosal sinus sampling using desmopressin: a case report

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Joo Hee Lim

2016-03-01

Full Text Available A 14-year-old girl was referred for evaluation of the etiology of Cushing syndrome. During the previous 2 years, she had experienced weight gain, secondary amenorrhea, growth retardation, and back pain. Random serum cortisol level, 24-hour urinary free cortisol excretion, and overnight and low-dose dexamethasone suppression tests suggested Cushing syndrome. Midnight adrenocorticotropic hormone (ACTH level and high-dose dexamethasone suppression test confirmed Cushing disease. Pituitary magnetic resonance imaging was suspicious for microadenoma. To eliminate ectopic ACTH syndrome, and lateralize the pituitary tumor, inferior petrosal sinus sampling (IPSS was performed by desmopressin use to stimulate ACTH. Finally, the patient was diagnosed with Cushing disease due to ACTH-secreting pituitary microadenoma, lateralized to the left side; subsequently underwent transsphenoidal surgery. Here we report a case of a 14-year-old girl diagnosed with Cushing disease with a pituitary tumor lateralized by IPSS using desmopressin, which is very rare in pediatric Cushing disease.

A patient with Cushing disease lateralizing a pituitary adenoma by inferior petrosal sinus sampling using desmopressin: a case report.

Science.gov (United States)

Lim, Joo Hee; Kim, Soo Jung; Jung, Mo Kyung; Kim, Ki Eun; Kwon, Ah Reum; Chae, Hyun Wook; Kim, Duk Hee; Kim, Ho-Seong

2016-03-01

A 14-year-old girl was referred for evaluation of the etiology of Cushing syndrome. During the previous 2 years, she had experienced weight gain, secondary amenorrhea, growth retardation, and back pain. Random serum cortisol level, 24-hour urinary free cortisol excretion, and overnight and low-dose dexamethasone suppression tests suggested Cushing syndrome. Midnight adrenocorticotropic hormone (ACTH) level and high-dose dexamethasone suppression test confirmed Cushing disease. Pituitary magnetic resonance imaging was suspicious for microadenoma. To eliminate ectopic ACTH syndrome, and lateralize the pituitary tumor, inferior petrosal sinus sampling (IPSS) was performed by desmopressin use to stimulate ACTH. Finally, the patient was diagnosed with Cushing disease due to ACTH-secreting pituitary microadenoma, lateralized to the left side; subsequently underwent transsphenoidal surgery. Here we report a case of a 14-year-old girl diagnosed with Cushing disease with a pituitary tumor lateralized by IPSS using desmopressin, which is very rare in pediatric Cushing disease.

Factors associated with adequate weekly reporting for disease ...

African Journals Online (AJOL)

IDSR) strategy in 1998 to strengthen disease surveillance and epidemic response. However, the goal of weekly surveillance reporting among health facilities has not been achieved. We conducted a crosssectional study to determine the ...

[Long-term disease in Danish children reported by the parents].

Science.gov (United States)

Nielsen, Anne M; Koefoed, Birgitte Gade; Møller, Ralf; Laursen, Bjarne

2006-01-23

The aim of this study was to report the prevalence and nature of long-term diseases and their consequences in children under the age of 16 in Denmark, and to identify the socio-demographic determinants of disease. Parents and stepparents participating in the Danish Health and Morbidity Survey, 2000, were interviewed at home about long-term diseases, including impairments and sequelae after injury and disease, in children under the age of 16 living at home. Answers were given for 7,670 children, and diseases were coded according to ICD-10 by two doctors. Logistic regression analysis was used to identify the determinants and consequences of disease. A total of 16.2% of children had one or more long-term diseases, boys (17.5%) more frequently than girls (14.8%). The prevalence increased through the first six years of life. A social gradient was seen: children of parents with low socioeconomic status or with little education had a higher prevalence. The most frequent disease was asthma (4.9%). Also frequent were congenital disorders (1.6%), otitis media (1.4%) and hearing impairment (0.6%). Children with long-term disease suffered more frequently than others from poor health in general, recent sick leave and poor thriving. The figures for long-term disease reported by the parents participating in the study were in accordance with what was found in earlier studies, but stigmatising and less severe diseases, as well as periodically recurring diseases, were probably underreported. Attention should be paid to the high prevalence of asthma, to the poorer thriving and to the general health status of children with long-term disease, and to the social inequality in children's health.

Oral contraceptives, pregnancy and the risk of cerebral thromboembolism: the influence of diabetes, hypertension, migraine and previous thrombotic disease

DEFF Research Database (Denmark)

Lidegaard, O

1995-01-01

OBJECTIVE: To assess the risk of developing cerebral thromboembolism among pregnant women and among fertile women with hypertension, migraine, diabetes, and previous thrombotic disease, and to investigate the interaction of these risk factors with the use of oral contraceptives. DESIGN...... multivariate analysis, pregnancy implied an odds ratio (OR) for a cerebral thromboembolic attack of 1.3 (nonsignificant), diabetes an OR of 5.4 (P hypertension an OR of 3.1 (P ... thromboembolism whereas diabetes, hypertension, migraine and past thromboembolic events increased the risk of cerebral thromboembolism significantly. Women with these increased thrombotic risks should use oestrogen-containing oral contraceptives only after careful considerations of the risks, if at all....

Addison’s Disease Mimicking as Acute Pancreatitis: A Case Report

Science.gov (United States)

Chaudhuri, Sayani; Rao, Karthik N; Ommurugan, Balaji; Varghese, George

2017-01-01

Over past two decades there has been significant improvement in medical field in elucidating the underlying pathophysiology and genetics of Addison’s disease. Adrenal insufficiency (Addison’s disease) is a rare disease with an incidence of 0.8/100,000 cases. The diagnosis may be delayed if the clinical presentation mimics a gastrointestinal disorder or psychiatric illness. We report a case of Addison’s disease presenting as acute pain in abdomen mimicking clinical presentation of acute pancreatitis. PMID:28571196

Appendiceal immunoglobulin G4-related disease mimicking appendiceal tumor or appendicitis: A case report

International Nuclear Information System (INIS)

Kim, Hyun Soo; Kang, Won Kyung; Chung, Dong Jin

2016-01-01

Immunoglobulin G4 (IgG4)-related disease is an autoimmune disease that forms tumorous lesions. Several cases involving various organs are reported, however, IgG4-related disease involving appendix has not been reported yet. In this report, we presented a case of IgG4-related disease of appendix, which raised a suspicion of appendiceal tumor or usual appendicitis and, therefore, led to unnecessary surgical resection. IgG4-related disease should be considered in the differential diagnosis for a mass-like swelling of the appendix, in order to avoid unnecessary surgery

Appendiceal immunoglobulin G4-related disease mimicking appendiceal tumor or appendicitis: A case report

Energy Technology Data Exchange (ETDEWEB)

Kim, Hyun Soo; Kang, Won Kyung; Chung, Dong Jin [Yeouido St. Mary' s Hospital, The Catholic University of Korea, Seoul (Korea, Republic of)

2016-02-15

Immunoglobulin G4 (IgG4)-related disease is an autoimmune disease that forms tumorous lesions. Several cases involving various organs are reported, however, IgG4-related disease involving appendix has not been reported yet. In this report, we presented a case of IgG4-related disease of appendix, which raised a suspicion of appendiceal tumor or usual appendicitis and, therefore, led to unnecessary surgical resection. IgG4-related disease should be considered in the differential diagnosis for a mass-like swelling of the appendix, in order to avoid unnecessary surgery.

Graves' disease presenting as pseudotumor cerebri: a case report

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Freitas Cláudia

2011-02-01

Full Text Available Abstract Introduction Pseudotumor cerebri is an entity characterized by elevated intracranial pressure with normal cerebrospinal fluid and no structural abnormalities detected on brain MRI scans. Common secondary causes include endocrine pathologies. Hyperthyroidism is very rarely associated and only three case reports have been published so far. Case presentation We report the case of a 31-year-old Luso-African woman with clinical symptoms and laboratory confirmation of Graves' disease that presented as pseudotumor cerebri. Conclusion This is a rare form of presentation of Graves' disease and a rare cause of pseudotumor cerebri. It should be remembered that hyperthyroidism is a potential cause of pseudotumor cerebri.

Agent Orange exposure and prevalence of self-reported diseases in Korean Vietnam veterans.

Science.gov (United States)

Yi, Sang-Wook; Ohrr, Heechoul; Hong, Jae-Seok; Yi, Jee-Jeon

2013-09-01

The aim of this study was to evaluate the association between Agent Orange exposure and self-reported diseases in Korean Vietnam veterans. A postal survey of 114 562 Vietnam veterans was conducted. The perceived exposure to Agent Orange was assessed by a 6-item questionnaire. Two proximity-based Agent Orange exposure indices were constructed using division/brigade-level and battalion/company-level unit information. Adjusted odds ratios (ORs) for age and other confounders were calculated using a logistic regression model. The prevalence of all self-reported diseases showed monotonically increasing trends as the levels of perceived self-reported exposure increased. The ORs for colon cancer (OR, 1.13), leukemia (OR, 1.56), hypertension (OR, 1.03), peripheral vasculopathy (OR, 1.07), enterocolitis (OR, 1.07), peripheral neuropathy (OR, 1.07), multiple nerve palsy (OR, 1.14), multiple sclerosis (OR, 1.24), skin diseases (OR, 1.05), psychotic diseases (OR, 1.07) and lipidemia (OR, 1.05) were significantly elevated for the high exposure group in the division/brigade-level proximity-based exposure analysis, compared to the low exposure group. The ORs for cerebral infarction (OR, 1.08), chronic bronchitis (OR, 1.05), multiple nerve palsy (OR, 1.07), multiple sclerosis (OR, 1.16), skin diseases (OR, 1.05), and lipidemia (OR, 1.05) were significantly elevated for the high exposure group in the battalion/company-level analysis. Korean Vietnam veterans with high exposure to Agent Orange experienced a higher prevalence of several self-reported chronic diseases compared to those with low exposure by proximity-based exposure assessment. The strong positive associations between perceived self-reported exposure and all self-reported diseases should be evaluated with discretion because the likelihood of reporting diseases was directly related to the perceived intensity of Agent Orange exposure.

Periodontal disease in a patient with Prader-Willi syndrome: a case report

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Kitamura Masahiro

2011-07-01

Full Text Available Abstract Introduction Prader-Willi syndrome is a complex genetic disease caused by lack of expression of paternally inherited genes on chromosome 15q11-q13. The prevalence of Prader-Willi syndrome is estimated to be one in 10,000 to 25,000. However, descriptions of the oral and dental phenotype are rare. Case presentation We describe the clinical presentation and periodontal findings in a 20-year-old Japanese man with previously diagnosed Prader-Willi syndrome. Clinical and radiographic findings confirmed the diagnosis of periodontitis. The most striking oral findings were anterior open bite, and crowding and attrition of the lower first molars. Periodontal treatment consisted of tooth-brushing instruction and scaling. Home care involved recommended use of adjunctive chlorhexidine gel for tooth brushing twice a week and chlorhexidine mouthwash twice daily. Gingival swelling improved, but further treatment will be required and our patient's oral hygiene remains poor. The present treatment of tooth-brushing instruction and scaling every three weeks therefore only represents a temporary solution. Conclusions Rather than being a direct result of genetic defects, periodontal diseases in Prader-Willi syndrome may largely result from a loss of cuspid guidance leading to traumatic occlusion, which in turn leads to the development of periodontal diseases and dental plaque because of poor oral hygiene. These could be avoided by early interventions to improve occlusion and regular follow-up to monitor oral hygiene. This report emphasizes the importance of long-term follow-up of oral health care by dental practitioners, especially pediatric dentists, to prevent periodontal disease and dental caries in patients with Prader-Willi syndrome, who appear to have problems maintaining their own oral health.

Periodontal disease in a patient with Prader-Willi syndrome: a case report.

Science.gov (United States)

Yanagita, Manabu; Hirano, Hiroyuki; Kobashi, Mariko; Nozaki, Takenori; Yamada, Satoru; Kitamura, Masahiro; Murakami, Shinya

2011-07-28

Prader-Willi syndrome is a complex genetic disease caused by lack of expression of paternally inherited genes on chromosome 15q11-q13. The prevalence of Prader-Willi syndrome is estimated to be one in 10,000 to 25,000. However, descriptions of the oral and dental phenotype are rare. We describe the clinical presentation and periodontal findings in a 20-year-old Japanese man with previously diagnosed Prader-Willi syndrome. Clinical and radiographic findings confirmed the diagnosis of periodontitis. The most striking oral findings were anterior open bite, and crowding and attrition of the lower first molars. Periodontal treatment consisted of tooth-brushing instruction and scaling. Home care involved recommended use of adjunctive chlorhexidine gel for tooth brushing twice a week and chlorhexidine mouthwash twice daily. Gingival swelling improved, but further treatment will be required and our patient's oral hygiene remains poor. The present treatment of tooth-brushing instruction and scaling every three weeks therefore only represents a temporary solution. Rather than being a direct result of genetic defects, periodontal diseases in Prader-Willi syndrome may largely result from a loss of cuspid guidance leading to traumatic occlusion, which in turn leads to the development of periodontal diseases and dental plaque because of poor oral hygiene. These could be avoided by early interventions to improve occlusion and regular follow-up to monitor oral hygiene. This report emphasizes the importance of long-term follow-up of oral health care by dental practitioners, especially pediatric dentists, to prevent periodontal disease and dental caries in patients with Prader-Willi syndrome, who appear to have problems maintaining their own oral health.

A suspected case of Addison's disease in cattle.

Science.gov (United States)

Lambacher, Bianca; Wittek, Thomas

2015-09-01

A 4.75-year old Simmental cow was presented with symptoms of colic and ileus. The clinical signs and blood analysis resulted in the diagnosis of suspected primary hypoadrenocorticism (Addison's disease). Although Addison's disease has been frequently described in other domestic mammals, to our knowledge, this disease has not previously been reported in cattle.

Related or not? Development of spontaneous Creutzfeldt-Jakob disease in a patient with chronic, well-controlled HIV: A case report and review of the literature.

Science.gov (United States)

Babi, M-Alain; Kraft, Bryan D; Sengupta, Sweta; Peterson, Haley; Orgel, Ryan; Wegermann, Zachary; Lugogo, Njira L; Luedke, Matthew W

2016-01-01

We report a novel case of a rare disease: spontaneous Creutzfeldt-Jakob disease in a patient with well-controlled HIV. We explore the relationship between spontaneous Creutzfeldt-Jakob disease and HIV. A 66-year-old man with long-standing, well-controlled HIV infection presented with 3 months of progressive, subacute neurocognitive decline. His symptoms included conceptual apraxia, apathy, memory impairment, and gait disturbance, and were initially attributed to depressive "pseudo-dementia." Unfortunately, the patient's symptoms rapidly progressed and he ultimately succumbed to his illness. Autopsy confirmed the clinical diagnosis of spontaneous Creutzfeldt-Jakob disease. This case highlights spontaneous Creutzfeldt-Jakob disease as a rare terminal illness in the setting of well-controlled chronic HIV. To our knowledge, this is the first report of a patient with chronic and previously well-controlled HIV infection dying from a prion disease. Despite the very different epidemiology and pathophysiology of HIV and spontaneous Creutzfeldt-Jakob disease, this case does raise questions of whether certain host genetic factors could predispose to both conditions, albeit currently, there is no clear causal link between HIV and spontaneous Creutzfeldt-Jakob disease.

Hodgkin's disease following thorium dioxide angiography

Energy Technology Data Exchange (ETDEWEB)

Gotlieb, A I; Kirk, M E [McGill Univ., Montreal, Quebec (Canada). Dept. of Pathology; Hutchison, J L [Montreal General Hospital, Quebec (Canada)

1976-09-04

Hodgkin's disease occurred in a 53-year-old man who, 25 years previously, had undergone cerebral angiography, for which thorium dioxide suspension (Thorotrast) was used. Deposits of thorium dioxide were noted in reticuloendothelial cells in various locations. An association between thorium dioxide administration and the subsequent development of malignant tumours and neoplastic hematologic disorders has previously been reported.

Gaucher disease with jawbone involvement: a case report.

Science.gov (United States)

Ahmadieh, Azadeh; Farnad, Fariborz; Sedghizadeh, Parish P

2014-11-05

Gaucher disease is an autosomal recessive systemic condition, and the most common of the lysosomal storage disorders. It is characterized by lipid accumulation in certain cells and organs, particularly macrophages, which appear on light microscopy as 'Gaucher cells' or vacuolated lipid-laden reticuloendothelial cells. Long bone involvement is common in Gaucher disease, whereas craniofacial bone involvement is extremely rare. Reports confirming the diagnoses of Gaucher disease involving craniofacial bones by histopathologic evidence are even rarer. A 46-year-old Caucasian Ashkenazi Jewish woman with Gaucher disease presented with jawbone pain and lytic radiographic lesions of her mandible. Surgical biopsy of a mandibular lesion revealed Gaucher cells infiltrating the mandible, which correlated with radiographic and clinical findings, supporting a diagnosis of Gaucher disease with jawbone involvement. Lysosomal storage diseases can have head and neck manifestations, and bone involvement in Gaucher disease is common. Therefore, careful consideration of signs and symptoms and medical history, with a thorough review of systems, is important when evaluating patients with lysosomal storage disorders to rule out head and neck involvement of disease. Biopsy may be warranted in some cases for more definitive diagnosis of painful jawbone lesions and to rule out other odontogenic and non-odontogenic conditions in the differential diagnosis.

Case report of Mikulicz`s disease: A modern concept of an old entity

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Božić Ksenija

2016-01-01

Full Text Available Introduction. Modern knowlegde defines Mikulicz´s disease as a part of immunoglobulin G4-related disease. The main feature is the presence of lymphoplasmacytic infiltrates, immunoglobulin G4 plasma cells positivity, distinctive storiform fibrosis and moderate eosinophilia. Case report. A 59-years old male presented with a mild keratoconjuctivitis sicca and enlarged lacrimal and salivary glands during the last two years. Althought clinical presentation of the patient was typical, earlier testing did not pinpoint Mikulicz ´s disease. By typical clinical presentation, elevated serum immunoglobulin G4 level and histopathological finding of lacrimal glands tissue we diagnosed Mikulicz´s disease successfully treated with corticosteroid therapy. Conclusion. We reported the first case of IgG4-related Mikulicz´s disease in Serbia. Our report highlights IgG4-related Mikulicz` s disease as an important differential diagnosis with Sjögren`s syndrome and lymphoproliferative disease in rheumatological practice.

[Prevalence of previously diagnosed diabetes mellitus in Mexico.

Science.gov (United States)

Rojas-Martínez, Rosalba; Basto-Abreu, Ana; Aguilar-Salinas, Carlos A; Zárate-Rojas, Emiliano; Villalpando, Salvador; Barrientos-Gutiérrez, Tonatiuh

2018-01-01

To compare the prevalence of previously diagnosed diabetes in 2016 with previous national surveys and to describe treatment and its complications. Mexico's national surveys Ensa 2000, Ensanut 2006, 2012 and 2016 were used. For 2016, logistic regression models and measures of central tendency and dispersion were obtained. The prevalence of previously diagnosed diabetes in 2016 was 9.4%. The increase of 2.2% relative to 2012 was not significant and only observed in patients older than 60 years. While preventive measures have increased, the access to medical treatment and lifestyle has not changed. The treatment has been modified, with an increase in insulin and decrease in hypoglycaemic agents. Population aging, lack of screening actions and the increase in diabetes complications will lead to an increase on the burden of disease. Policy measures targeting primary and secondary prevention of diabetes are crucial.

The Natural History of Juvenile or Subacute GM2 Gangliosidosis: 21 New Cases and Literature Review of 134 Previously Reported

Science.gov (United States)

Maegawa, Gustavo H. B.; Stockley, Tracy; Tropak, Michael; Banwell, Brenda; Blaser, Susan; Kok, Fernando; Giugliani, Roberto; Mahuran, Don; Clarke, Joe T. R.

2010-01-01

OBJECTIVE Juvenile GM2 gangliosidosis is a group of inherited neurodegenerative diseases caused by deficiency of lysosomal β-hexosaminidase resulting in GM2 ganglioside accumulation in brain. The purpose of this study was to delineate the natural history of the condition and identify genotype-phenotype correlations that might be helpful in predicting the course of the disease in individual patients. METHODS A cohort of 21 patients with juvenile GM2 gangliosidosis, 15 with the Tay-Sachs variant and 6 with the Sandhoff variant, was studied prospectively in 2 centers. Our experience was compared with previously published reports on 134 patients. Information about clinical features, β-hexosaminidase enzyme activity, and mutation analysis was collected. RESULTS In our cohort of patients, the mean (±SD) age of onset of symptoms was 5.3 ± 4.1 years, with a mean follow-up time of 8.4 years. The most common symptoms at onset were gait disturbances (66.7%), incoordination (52.4%), speech problems (28.6%), and developmental delay (28.6%). The age of onset of gait disturbances was 7.1 ± 5.6 years. The mean time for progression to becoming wheelchair-bound was 6.2 ± 5.5 years. The mean age of onset of speech problems was 7.0 ± 5.6 years, with a mean time of progression to anarthria of 5.6 ± 5.3 years. Muscle wasting (10.6 ± 7.4 years), proximal weakness (11.1 ± 7.7 years), and incontinence of sphincters (14.6 ± 9.7 years) appeared later in the course of the disease. Psychiatric disturbances and neuropathy were more prevalent in patients with the Sandhoff variant than in those with the Tay-Sachs variant. However, dysphagia, sphincter incontinence, and sleep problems occurred earlier in those with the Tay-Sachs variant. Cerebellar atrophy was the most common finding on brain MRI (52.9%). The median survival time among the studied and reviewed patients was 14.5 years. The genotype-phenotype correlation revealed that in patients with the Tay-Sachs variant, the presence

Preventive health care and owner-reported disease prevalence of horses and ponies in Great Britain.

Science.gov (United States)

Ireland, J L; Wylie, C E; Collins, S N; Verheyen, K L P; Newton, J R

2013-10-01

This study aimed to describe the provision of preventive health care and owner-reported disease prevalence in horses and ponies within Great Britain (GB), and to assess geographical variations in health care provision. A cross-sectional survey was conducted, using a postal questionnaire administered to a random sample of veterinary-registered owners of horses and ponies in GB (n=797). The majority of animals received regular preventive health care: 95.6% had regular hoof care; 71.3% were vaccinated for both influenza and tetanus and median time since last anthelmintic administration was 8.7 weeks. Thirty-one percent of owners indicated their animal was overweight/obese. A new health problem within the previous 7 days was reported for 7.4% of animals, 59.3% of which were veterinary-diagnosed. Thirty-two percent of animals were reported to have a long-term/recurrent condition, of which osteoarthritis (13.9%) was the most prevalent. Obesity, musculoskeletal disorders, and dermatological conditions were the most prevalent conditions affecting veterinary-registered horses/ponies. Copyright © 2013 Elsevier Ltd. All rights reserved.

A Phase 3, multicenter, open-label, switchover trial to assess the safety and efficacy of taliglucerase alfa, a plant cell-expressed recombinant human glucocerebrosidase, in adult and pediatric patients with Gaucher disease previously treated with imiglucerase.

Science.gov (United States)

Pastores, Gregory M; Petakov, Milan; Giraldo, Pilar; Rosenbaum, Hanna; Szer, Jeffrey; Deegan, Patrick B; Amato, Dominick J; Mengel, Eugen; Tan, Ee Shien; Chertkoff, Raul; Brill-Almon, Einat; Zimran, Ari

2014-12-01

Taliglucerase alfa is a β-glucosidase enzyme replacement therapy (ERT) approved in the US and other countries for the treatment of Gaucher disease (GD) in adults and is approved in pediatric and adult patients in Australia and Canada. It is the first approved plant cell-expressed recombinant human protein. A Phase 3, multicenter, open-label, 9-month study assessed safety and efficacy of switching to taliglucerase alfa in adult and pediatric patients with GD treated with imiglucerase for at least the previous 2years. Patients with stable disease were offered taliglucerase alfa treatment using the same dose (9-60U/kg body weight) and regimen of administration (every 2weeks) as imiglucerase. This report summarizes results from 26 adult and 5 pediatric patients who participated in the trial. Disease parameters (spleen and liver volumes, hemoglobin concentration, platelet count, and biomarker levels) remained stable through 9months of treatment in adults and children following the switch from imiglucerase. All treatment-related adverse events were mild or moderate in severity and transient in nature. Exploratory parameters of linear growth and development showed positive outcomes in pediatric patients. These findings provide evidence of the efficacy and safety profile of taliglucerase alfa as an ERT for GD in patients previously treated with imiglucerase. This trial was registered at www.clinicaltrials.gov as # NCT00712348. Copyright © 2014 Elsevier Inc. All rights reserved.

Gorham's disease of the spine

International Nuclear Information System (INIS)

Livesley, P.J.; Saifuddin, A.; Webb, P.J.; Mitchell, N.; Ramani, P.

1996-01-01

Massive osteolysis is a rare condition and is very uncommon in the spine. The MRI appearance of Gorham's disease of the spine has not previously been reported. We present here a case of this condition with imaging details. (orig.)

High prevalence of peripheral arterial disease in patients with previous cerebrovascular or coronary event

DEFF Research Database (Denmark)

Mehlsen, Jesper; Wiinberg, Niels; Joergensen, Bjarne S

2010-01-01

The presence of peripheral arterial disease (PAD) in patients with other manifestations of cardiovascular disease identifies a population at increased risk of complications both during acute coronary events and on a long-term basis and possibly a population in whom secondary prevention of cardiov......The presence of peripheral arterial disease (PAD) in patients with other manifestations of cardiovascular disease identifies a population at increased risk of complications both during acute coronary events and on a long-term basis and possibly a population in whom secondary prevention...

Previously unknown species of Aspergillus.

Science.gov (United States)

Gautier, M; Normand, A-C; Ranque, S

2016-08-01

The use of multi-locus DNA sequence analysis has led to the description of previously unknown 'cryptic' Aspergillus species, whereas classical morphology-based identification of Aspergillus remains limited to the section or species-complex level. The current literature highlights two main features concerning these 'cryptic' Aspergillus species. First, the prevalence of such species in clinical samples is relatively high compared with emergent filamentous fungal taxa such as Mucorales, Scedosporium or Fusarium. Second, it is clearly important to identify these species in the clinical laboratory because of the high frequency of antifungal drug-resistant isolates of such Aspergillus species. Matrix-assisted laser desorption/ionization-time of flight mass spectrometry (MALDI-TOF MS) has recently been shown to enable the identification of filamentous fungi with an accuracy similar to that of DNA sequence-based methods. As MALDI-TOF MS is well suited to the routine clinical laboratory workflow, it facilitates the identification of these 'cryptic' Aspergillus species at the routine mycology bench. The rapid establishment of enhanced filamentous fungi identification facilities will lead to a better understanding of the epidemiology and clinical importance of these emerging Aspergillus species. Based on routine MALDI-TOF MS-based identification results, we provide original insights into the key interpretation issues of a positive Aspergillus culture from a clinical sample. Which ubiquitous species that are frequently isolated from air samples are rarely involved in human invasive disease? Can both the species and the type of biological sample indicate Aspergillus carriage, colonization or infection in a patient? Highly accurate routine filamentous fungi identification is central to enhance the understanding of these previously unknown Aspergillus species, with a vital impact on further improved patient care. Copyright © 2016 European Society of Clinical Microbiology and

PHACES syndrome: a review of eight previously unreported cases with late arterial occlusions

International Nuclear Information System (INIS)

Bhattacharya, J.J.; Luo, C.B.; Alvarez, H.; Rodesch, G.; Lasjaunias, P.L.; Pongpech, S.

2004-01-01

PHACE and PHACES are acronyms for a syndrome of variable expression comprising posterior cranial fossa malformations, facial haemangiomas, arterial anomalies, aortic coarctation and other cardiac disorders, ocular abnormalities and stenotic arterial disease. We review five girls and three boys aged 1 month-14 years with disorders from this spectrum. Six had large facial haemangiomas but recent reports suggest that small haemangiomas may occur; hence our inclusion of two possible cases. We also focus on the recently recognised feature of progressive intracranial arterial occlusions, present in four of our patients, later than previously recognised, from 4 to 14 years of age. We suggest that many elements of this disorder could reflect an abnormality of cell proliferation and apoptosis. (orig.)

Creutzfeldt-Jakob Disease-Like Periodic Sharp Wave Complexes in Voltage-Gated Potassium Channel-Complex Antibodies Encephalitis: A Case Report.

Science.gov (United States)

Savard, Martin; Irani, Sarosh R; Guillemette, Annie; Gosselin-Lefebvre, Stéphanie; Geschwind, Michael; Jansen, Gerard H; Gould, Peter V; Laforce, Robert

2016-02-01

Voltage-gated potassium channel-complex antibodies (VGKC-cAbs) encephalitis, a treatable autoantibody encephalopathy, has been previously reported to clinically mimic sporadic Creutzfeldt-Jakob disease. Among available clinical clues to distinguish them, periodic sharp wave complexes, a typical finding in sporadic Creutzfeldt-Jakob disease, have never been reported in association with VGKC-cAbs encephalitis. A 76-year-old man was transferred to a tertiary neurology center with a clinical history of 6-month weight loss, cognitive disturbance, and nonspecific generalized weakness. He had two seizures the month before transfer and then evolved to severe encephalopathy, requiring mechanical ventilation. Periodic sharp wave complexes every 1 to 2 seconds over slowed background were found on EEG, and MRI showed cerebellar and bifrontal cortical T2/FLAIR/DWI hypersignal without restricted diffusion on ADC mapping. Pancorporal positron emission tomography scan was negative. An immunotherapy trial did not improve the patient condition. Therefore, he died after life support withdrawal. Brain autopsy revealed mononuclear neocortex infiltrate without significant spongiosis, and the anti-VGKC test showed a seropositivity of 336 pmol/L (normal, 0-31), 3 month after the patient deceased. This is the first reported case of VGKC-cAbs encephalitis associated with periodic sharp wave complexes on EEG, which further confuse the differential diagnosis with sporadic Creutzfeldt-Jakob disease. However, the cortical DWI hypersignal without restriction seems to remain a way to discriminate these two entities appropriately, when present. These clues are of paramount importance because VGKC-cAbs encephalitis is a treatable disease.

Infectious diseases in Poland in 2014

Science.gov (United States)

Sadkowska-Todys, Małgorzata; Zieliński, Andrzej; Czarkowski, Mirosław P

The aim of the study is to assess epidemiological situation of infectious and parasitic diseases in Poland in 2014, and an indication of the potential health risks from communicable diseases occurring in other areas of the globe. This paper is a summary of the analysis and evaluation of the results of epidemiological surveillance of infectious diseases in Poland in 2014, and those elements of European and global epidemiological background, which in this period had an impact on the epidemiological situation in Poland or constituted a threat. The main source of data for this study are statistical reports included in annual bulletins “Infectious diseases and poisoning in Poland in 2014” and “Immunizations in Poland in 2014” (NIPH-PZH, GIS, Warsaw 2015) and the data contained in the articles of „Epidemiological chronicle” presented in the Data on deaths are based on the statement of the Department for Demographic Research and Labour Market CSO presenting numbers of deaths from infectious and parasitic diseases registered in Poland in 2014, and in the previous years. Upper respiratory tract infection classified as “suspected flu and the flu season” in the since many years are the largest position among the diseases subject to disease surveillance. In the last decade, particularly large increase in the incidence of upper respiratory tract infection was reported in the flu season 2013., when the increase in comparison to the median of years 2008-2012 amounted to 189.8%. In 2014. Number of reported cases was 3 137 056 which represented a nonsignificant decrease of 0.8% compared with the previous year. However, compared to the median of the years 2008-2012 it was an increase of 187.4%. Better then based on calendar year is a picture obtained by examining the incidence of seasonal periods in the annual, but counted from 1 September to 31 August of the following year. In such a setup, in the 2012/2013 season were recorded 3 025 258 of cases, and in the season

Krabbe Disease: Report of a Rare Lipid Storage and Neurodegenerative Disorder.

Science.gov (United States)

Pavuluri, Pratyusha; Vadakedath, Sabitha; Gundu, Rajkumar; Uppulety, Sushmitha; Kandi, Venkataramana

2017-01-01

Krabbe disease is a rare (one in 100,000 births) autosomal recessive condition, usually noticed among children. It causes sphingolipidosis (dysfunctional metabolism of sphingolipids) and leads to fatal degenerative changes affecting the myelin sheath of the nervous system. We report a case of a six-year-old male child who presented with symptoms of muscle spasticity and irritability. Diagnosis of this disease can only be made with clinical suspicion. Laboratory diagnosis includes brain magnetic resonance imaging (MRI), magnetic resonance (MR) spectroscopy, biochemical analysis of cerebrospinal fluid, and genetic analysis for detecting mutation in genes coding for galactosyl cerebroside (GALC). We report a case of late infantile Krabbe disease.

Meningeal involvement in Behcet's disease: MRI

International Nuclear Information System (INIS)

Guma, A.; Aguilera, C.; Pons, L.; Acebes, J.; Arruga, J.

1998-01-01

Behcet's disease is a multisystem disease that involves the central nervous system up to half of cases. Presentation with neurologic symptoms occurs in 5 % of cases and cerebral venous thrombosis is one of its major manifestations. A feature not previously reported is progressive meningeal thickening with involvement of both optic nerves. We report a patient with cerebral venous thrombosis, meningeal thickening and contrast enhancement on MRI. This patient had two other unusual features: positive antineutrophil cytoplasmic antibodies and later development of central diabetes insipidus. (orig.)

Pulsed and Color Doppler Sonographic Findings of Penile Mondor' Disease

Energy Technology Data Exchange (ETDEWEB)

Han, Hye Yeon; Chung, Dong Jin; Kim, Kum Won; Hwang, Cheol Mog [University of Konyang School of Medicine, Daejeon (Korea, Republic of)

2008-04-15

Penile Mondor's disease is a rare disease that's characterized by thrombosis in the dorsal vein of the penis. Doppler ultrasonography (US) clearly visualizes dorsal vein thrombosis and the associated hemodynamic alterations. Previous studies have demonstrated the typical color Doppler US findings of superficial dorsal vein thrombosis without the flow signals in this area, yet this is insufficient to understand the hemodynamics in penile Mondor's disease. We report here for the first time a cavernosal artery flow signal pattern in a penile Mondor's disease patient, in addition to its previously reported classic US findings. In conclusion, the Doppler US findings of thrombus without blood flow in the superficial dorsal vein and the low-flow, high resistance in the cavernosal artery may be suggestive of penile Mondor's disease.

Norrie's disease in an Asian family.

OpenAIRE

Harendra de Silva, D G; de Silva, D B

1988-01-01

Norrie's disease, a congenital progressive oculo-acoustico-cerebral degenerative condition, is a sex linked recessive disorder. Previously described as atrophia oculi congeneti, it is associated with bilateral pseudotumour of the retina, lens, and corneal opacities, and phthisis bulbi. Some patients develop progressive deterioration of mental function and hearing. We report a Sri Lankan family with typical features of Norrie's disease.

Chronic Chagas disease: PCR-xenodiagnosis without previous microscopic observation is a useful tool to detect viable Trypanosoma cruzi.

Science.gov (United States)

Saavedra, Miguel; Zulantay, Inés; Apt, Werner; Martínez, Gabriela; Rojas, Antonio; Rodríguez, Jorge

2013-01-01

We evaluate the elimination of the microscopic stage of conventional xenodiagnosis (XD) to optimize the parasitological diagnosis of Trypanosoma cruzi in chronic Chagas disease. To this purpose we applied under informed consent two XD cages to 150 Chilean chronic chagasic patients. The fecal samples (FS) of the triatomines at 30, 60 and 90 days post feeding were divided into two parts: in one a microscopic search for mobile trypomastigote and/or epimastigote forms was performed. In the other part, DNA extraction-purification for PCR directed to the conserved region of kDNA minicircles of trypanosomes (PCR-XD), without previous microscopic observation was done. An XD was considered positive when at least one mobile T. cruzi parasite in any one of three periods of incubation was observed, whereas PCR-XD was considered positive when the 330 bp band specific for T. cruzi was detected. 25 of 26 cases with positive conventional XD were PCR-XD positive (concordance 96.2%), whereas 85 of 124 cases with negative conventional XD were positive by PCR-XD (68.5%). Human chromosome 12 detected by Real-time PCR used as exogenous internal control of PCR-XD reaction allowed to discounting of PCR inhibition and false negative in 40 cases with negative PCR-XD. PCR-XD performed without previous microscopic observation is a useful tool for detection of viable parasites with higher efficiency then conventional XD.

[Association Budd Chiari syndrome, antiphospholipid syndrome and Grave's disease].

Science.gov (United States)

Mouelhi, Leila; Chaieb, Mouna; Debbeche, Radhouane; Salem, Mohamed; Sfar, Imene; Trabelsi, Sinda; Gorgi, Yosr; Najjar, Taoufik

2009-02-01

Antiphospholipid syndrome is revealed by Budd Chiari syndrome in 5% of the cases. Antiphospholipid syndrome is characterized by venous or arterial thrombosis, foetal loss and positivity of antiphospholipid antibodies, namely lupus anticoagulant, anticardiolipin antibodies and anti-beta2-glycoprotein I. Anticardiolipin antibodies was reported in auto-immune thyroid disorders, particularly in Grave's disease. Antiphospholipid syndrome associated to Grave's disease was reported in only three cases. To describe a case report of association of Grave's disease and antiphospholipid syndrome. We report the first case of Grave's disease associated with antiphospholipid syndrome, revealed by Budd Chiari syndrome. Our observation is particular by the fact that it is about a patient presenting a Grave's disease associated with antiphospholipid syndrome revealed by Budd Chiari syndrome. This triple association has never been reported in literature. Although association between antiphospholipid syndrome and Grave's disease was previously described, further studies evaluating the coexistence of these two affections in the same patient would be useful.

Hemolytic disease of the fetus and newborn caused by anti-D and anti-S alloantibodies: a case report

Directory of Open Access Journals (Sweden)

Yousuf Rabeya

2012-02-01

Full Text Available Abstract Introduction Hemolytic disease of the fetus and newborn is most commonly caused by anti-D alloantibody. It is usually seen in Rhesus D (RhD-negative mothers that have been previously sensitized. We report here a case of hemolytic disease of the fetus and newborn in a newborn baby caused by anti-D and anti-S alloantibodies, born to a mother who was RhD negative, but with no previous serological evidence of RhD alloimmunization. Case presentation A one-day-old Chinese baby boy was born to a mother who was group A RhD negative. The baby was jaundiced with hyperbilirubinemia, but with no evidence of infection. His blood group was group A RhD positive, his direct Coombs' test result was positive and red cell elution studies demonstrated the presence of anti-D and anti-S alloantibodies. Investigations performed on the maternal blood during the 22 weeks of gestation showed the presence of anti-S antibodies only. Repeat investigations performed post-natally showed the presence of similar antibodies as in the newborn and an anti-D titer of 1:32 (0.25 IU/mL, which was significant. A diagnosis of hemolytic disease of the fetus and newborn secondary to anti-D and anti-S was made. The baby was treated with phototherapy and close monitoring. He was discharged well after five days of phototherapy. Conclusions This case illustrates the possibility of an anamnestic response of allo-anti-D from previous sensitization in a RhD-negative mother, or the development of anti-D in mid-trimester. Thus, it highlights the importance of thorough antenatal ABO, RhD blood grouping and antibody screening, and if necessary, antibody identification and regular monitoring of antibody screening and antibody levels for prevention or early detection of hemolytic disease of the fetus and newborn, especially in cases of mothers with clinically significant red cell alloantibody.

Case Report: CT and MRI findings in Lhermitte- Duclos disease ...

African Journals Online (AJOL)

... lesion of uncertain origin. It is linked to an autosomal- dominant phakomatosis known as Cowden's disease in 40% of patients. The MRI features of LDD are almost unique and can be considered diagnostic. We report on a patient who presented with the typical MRI features of the above disease, and discuss the imaging ...

Monilethrix – Case report of a rare disease

Directory of Open Access Journals (Sweden)

Tasleem Arif

2015-01-01

Full Text Available Monilethrix is a rare genetic disorder of hair characterized by beaded appearance of the hair shaft leading to hair fragility and patchy dystrophic alopecia. In this disorder, the hair shaft has alternate widenings (nodes and constrictions (internodes that lead to fracture of hair shaft and varying degree of alopecia. We report an eight year old Kashmiri boy who presented with diffuse hair loss since infancy. As monilethrix is a rare disease entity which prompted us to report this case.

Brave New Worlds: The Expanding Universe of Lyme Disease.

Science.gov (United States)

Stone, Brandee L; Tourand, Yvonne; Brissette, Catherine A

2017-09-01

Projections around the globe suggest an increase in tick-vectored disease incidence and distribution, and the potential for emergence of novel tick-borne pathogens. Lyme disease is the most common reported tick-borne illness in the Unites States and is prevalent throughout much of central Europe. In recent years, the worldwide burden of Lyme disease has increased and extended into regions and countries where the disease was not previously reported. In this review, we discuss the trends for increasing Lyme disease, and examine the factors driving Lyme disease expansion, including the effect of climate change on the spread of vector Ixodid ticks and reservoir hosts; and the impacts of increased awareness on disease reporting and diagnosis. To understand the growing threat of Lyme disease, we need to study the interplay between vector, reservoir, and pathogen. In addition, we need to understand the contributions of climate conditions to changes in disease risk.

Local television news reporting of kidney disease.

Science.gov (United States)

Jaffery, Jonathan B; Jacobson, Lynn M; Goldstein, Kenneth M; Pribble, James M

2006-12-01

Local television is the primary news source for the majority of Americans. This study aims to describe how local news reports on kidney disease. Using our searchable database of health-related late local news segments from 2002, we identified stories with the key words kidney, hypertension, blood pressure, or diabetes. This database is a representative sample of the late local news on 122 stations in the 50 largest US media markets, comprising 60% of the population. The content of each identified story was reviewed to determine whether it mentioned: (1) chronic kidney disease (CKD), (2) screening for kidney disease, or (3) kidney disease as a potential complication (for blood pressure- or diabetes-related stories). Only 2 of 1,799 database news stories (0.11%) included "kidney" as a summary key word; neither referred to CKD, screening, or complications of other diseases. Of 19 stories about hypertension or blood pressure (1.06% of all stories) and the 14 stories about diabetes (0.78% of all stories), none mentioned these criteria. Despite efforts to increase public awareness of and screening for CKD, local television news (the most important news source for a majority of Americans) did little to help achieve these goals. Further work will be needed to confirm whether this paucity of coverage varies over time and determine why so little attention is given to CKD. Educating physicians and public relations personnel who advocate for kidney disease about journalists' needs may be an important step to help advance public awareness of CKD.

Cerebral involvement in a patient with Goodpasture's disease due to shortened induction therapy: a case report

Directory of Open Access Journals (Sweden)

Preul Christoph

2009-11-01

Full Text Available Abstract Introduction Goodpasture's disease is a rare immunological disease with formation of pathognomonic antibodies against renal and pulmonary basement membranes. Cerebral involvement has been reported in several cases in the literature, yet the pathogenetic mechanism is not entirely clear. Case presentation A 21-year-old Caucasian man with Goodpasture's disease and end-stage renal disease presented with two generalized seizures after a period of mild cognitive disturbance. Blood pressure and routine laboratory tests did not exceed the patient's usual values, and examination of cerebrospinal fluid was unremarkable. Cerebral magnetic resonance imaging (MRI revealed multiple cortical and subcortical lesions on fluid-attenuated inversion recovery sequences. Since antiglomerular basement membrane antibodies were found to be positive with high titers, plasmapheresis was started. In addition, cyclophosphamide pulse therapy was given on day 13. Encephalopathy and MRI lesions disappeared during this therapy, and antiglomerular basement membrane antibodies were significantly reduced. Previous immunosuppressive therapy was performed without corticosteroids and terminated early after 3 months. The differential diagnostic considerations were cerebral vasculitis and posterior reversible encephalopathy syndrome. Vasculitis could be seen as an extrarenal manifestation of the underlying disease. Posterior reversible encephalopathy syndrome, on the other hand, can be triggered by immunosuppressive therapy and may appear without a hypertensive crisis. Conclusion A combination of central nervous system symptoms with a positive antiglomerular basement membrane test in a patient with Goodpasture's disease should immediately be treated as an acute exacerbation of the disease with likely cross-reactivity of antibodies with the choroid plexus. In our patient, a discontinuous strategy of immunosuppressive therapy may have favored recurrence of Goodpasture's disease.

Paradoxical reaction to the treatment of tuberculosis uncovering previously silent meningeal disease Reação paradoxal ao tratamento da tuberculose revelando doença meníngea previamente silenciosa

Directory of Open Access Journals (Sweden)

Walter A. Eyer-Silva

2002-02-01

Full Text Available The development of paradoxical clinical worsening following initiation of tuberculosis treatment may complicate the clinical course of both HIV-infected and uninfected patients. We report a severe manifestation of the so called paradoxical reaction to the treatment of tuberculosis that unmasked previously silent meningeal disease in a 34-year-old HIV-infected male patient.O desenvolvimento de piora clínica paradoxal como resposta ao início do tratamento da tuberculose pode complicar a evolução de pacientes com e sem infecção pelo HIV. Apresentamos uma grave manifestação da chamada reação paradoxal ao tratamento da tuberculose, que revelou doença meníngea previamente silenciosa em um paciente HIV-positivo de 34 anos.

Novel serotype of bluetongue virus in South America and first report of epizootic haemorrhagic disease virus in Ecuador.

Science.gov (United States)

Verdezoto, J; Breard, E; Viarouge, C; Quenault, H; Lucas, P; Sailleau, C; Zientara, S; Augot, D; Zapata, S

2018-02-01

Bluetongue virus (BTV) and Epizootic haemorrhagic disease virus (EHDV) are closely related Orbiviruses that affect domestic and wild ruminants. In Ecuador previous serological studies reported the presence of BTV; however, no data are available about the presence of EHDV. In this study, 295 cattle without symptoms of infection were sampled from two farms located in Andean and Amazonian regions and from a slaughterhouse in the coastal region. ELISA analyses showed high prevalence of BTV (98.9%) and EHDV (81.3%) antibodies, and RT-qPCRs revealed the presence of EHDV (24.1%) and BTV (10.2%) genomes in cattle blood samples. Viral isolation allowed to identify EHDV serotype 1 (EHDV1) and BTV serotypes 9 (BTV9), 13 and 18. These findings suggest that BTV and EHDV are enzootic diseases in Ecuador. © 2017 Blackwell Verlag GmbH.

Skeletal Manifestations in Gaucher Disease: A Case Report

Directory of Open Access Journals (Sweden)

Altınay Göksel Karatepe

2005-09-01

Full Text Available Gauchers disease is the most frequent hereditary lysosomal deposit storage disorder. It is characterized by a deficiency of the enzyme glucocerebrosidase that leads to an accumulation of glucocerebroside in the macrophage lysosomes. It is classified in three types, according to the presence of central nervous system involvement (type 2 and 3 or not (type 1. In the majority of patients there are hepatosplenomegaly, anemia and thrombocytopenia. Skeletal involvement is also important and it is the most disabling manifestation. In this case report, there is presented a case of Gauchers disease with multiple skeletal involvement and the literature is reviewed.

Pattern of breast diseases: preliminary report of breast clinic

International Nuclear Information System (INIS)

Siddiqui, K.; Rasool, I.

2001-01-01

Objective: To find out the pattern of breast disease in this part of the county and create public awareness about breast diseases especially cancer. Design: Ac cross sectional and cohort study. Place and Duration of Study: The study was conducted at Department of Surgery, Jinnah Hospital /Allama Iqbal Medical College, Lahore from March 1999 to July 2000. Subjects and Methods: All the female patients reported were included in this study. They were diagnosed by history, physical examination and rel event investigations like ultrasonography, mammography, FNAS and biopsy. Appropriate medical and surgical management was carried out. The breast cancer was treated according to TNA staging system by multidisciplinary approach. Method of breast self examination (BSE) was taught with the help of charts and brochures. Results: The age ranged from 10 years to 75 years. Maximum number of patients (30%) was seen between 20-29 years of age while 15 (1%) cases did not suffer from any disease. Among 1485 patients the common conditions were non cyclical mastalgia in 362 (24.37%), fibroadenoma in 289 (19.46%), fibrocystic disease in 276(17.98%) breast abscess in 149 (10%) and breast cancer (6.19%). Other diseases were puberty mastitis 49(3.2%), galactocele 40(2.69%), accessory breast 45(3%) and nipple discharge 28(1.88%). Among the palpable lumps, breast caner accounted for 11.75%. The commonest age of presentation of breast cancer was 5th decade (31%) followed by 4th decade (26%). Majority of cancer patients (45%) presented in stage III. All the women with beast abscesses were lactating. Non cyclical mastalgia was commonly seen in 4th decade (30.66%) while 44.63% patients of fibroadenoma reported in the 2nd decade. Fibrocystic disease was reported between 3rd and 4th decade (62.17%). Conclusion: Commonest being conditions were non cyclical mastalgia followed by fibroadenoma while breast cancer contributed a significant percentage of palpable lumps. Due to effective public awareness

Ultrasonographic findings of Weber-Christian disease of the breast: a case report

International Nuclear Information System (INIS)

Jang, Ji Youn; Chang, Yun Woo; Lee, Dong Wha

2005-01-01

Weber-Christian disease is a rare inflammatory disease of subcutaneous fat necrosis that may or may not involve systemic disease. We report the results of a breast sonograph of a case diagnosed as a form of an acute lobular panniculitis affecting the breast and upper limbs

Preprohypocretin polymorphisms in Parkinson disease patients reporting "sleep attacks".

Science.gov (United States)

Rissling, Ida; Körner, Yvonne; Geller, Frank; Stiasny-Kolster, Karin; Oertel, Wolfgang H; Möller, J Carsten

2005-07-01

Previously, we found a significant association between the dopamine D2 receptor gene polymorphism Taq IA and sudden onset of sleep in patients with Parkinson disease. Here we evaluated the association between the preprohypocretin (-909T/C), (-22C/T), and (-20C/A) polymorphisms and sudden onset of sleep in the same population of patients with Parkinson disease. We conducted an association study analyzing the distribution of preprohypocretin polymorphisms in Germanic, caucasian Parkinson disease patients with and without sudden onset of sleep, matched according to drug therapy, disease duration, sex, and age. Movement disorders section at a university hospital. 132 Parkinson disease patients with sudden onset of sleep and 132 Parkinson disease patients without sudden onset of sleep. Blood samples were taken from each participant and used for DNA extraction. Polymorphisms were analyzed by established polymerase chain reaction protocols or direct sequencing. The variant allele T of the (-909T/C) preprohypocretin polymorphism was more commonly found in Parkinson disease patients with sudden onset of sleep. Statistical analysis showed that there were significant differences in the genotype (P = .024) and allele (P = .018) distribution between both groups. For heterozygous and homozygous carriers of allele T, the genotype relative-risk estimates for the presence of sudden onset of sleep were 2.01 (95% confidence interval: 0.76-5.34) and 2.81 (95% confidence interval: 1.09-7.25), respectively. Our results show a significant association between the (-909T/C) preprohypocretin polymorphism and sudden onset of sleep in Parkinson disease. However, we could not demonstrate any interaction between the Taq IA and (-909T/C) polymorphisms with respect to the occurrence of sudden onset of sleep, suggesting that multiple genetic factors may contribute to the pathogenesis of this phenomenon.

The cause of abdominal mass in a child with celiac disease: Rapunzel syndrome. A case report

Directory of Open Access Journals (Sweden)

Yeliz Çağan Appak

2018-03-01

Full Text Available ABSTRACT CONTEXT: Rapunzel syndrome is a rare form of gastric trichobezoar that develops through outstretching of the bezoar from the stomach to the intestine. CASE REPORT: A 12-year-old girl who had been diagnosed with celiac disease six years earlier was brought to the department of pediatric gastroenterology because of abdominal distension. A palpable mass was detected. A trichobezoar that stretched to the small intestine was removed surgically. The patient was diagnosed as having anxiety and depressive disorder, and treatment started. Following the treatment, her previous trichophagia completely disappeared. CONCLUSION: Presence of trichobezoar should be kept in mind, especially when young girls who have psychiatric problems suffer from gastrointestinal symptoms.

Validity of Self-Reported Periodontal Disease Questionnaire among Pregnant Women.

Science.gov (United States)

Chiga, Sakura; Ohba, Takashi; Tanoue, Daisuke; Kawase, Hiromi; Katoh, Takahiko; Katabuchi, Hidetaka

2016-01-01

As part of the Kumamoto RAINBOW Project, a multifaceted implementation of the prevention of premature labor, we investigated pregnant women's oral health status and assessed the validity of a self-reported periodontal disease questionnaire. We examined the oral health status of pregnant women and asked them for subjective descriptions of symptoms of periodontitis both in the first and the second half of their pregnancy in Kumamoto Prefecture from August 2012 to January 2014. The Community Periodontal Index (CPI) was used to assess the periodontal condition, and women having periodontal pockets with depths of ≥4 mm were catecogorized as having periodontitis. The results were the scores of the self-questionnaire for periodontal disease prepared by the Japan Dental Association. Of the 9,527 pregnant women who received periodontal check- ups during the first half of pregnancy, 32 percent were diagnosed as having periodontitis. The self-questionnaire had a sensitivity of 51.2% and a specificity of 62.9% for pregnant women to predict their periodontal disease. Then, we evaluated the importance of each question by logistic regression analysis and extracted the useful items. An increased sensitivity (79.9%) was obtained with the best of the modified questionnaire. To our knowledge, this is the first report of the evaluation of the usefulness of the self-reported periodontal disease questionnaire for pregnant women. The current self-questonnaire used for the general adult population was less sensitive for pregnant women. Our modified questionnaire showed an improved sensitivity for diagnosing periodontitis, but its specificity remained low. A specialized self-questionnaire for periodontal disease in pregnant women should be designed.

Extranodal Rosai Dorfman disease in multiple sites: A case report

Energy Technology Data Exchange (ETDEWEB)

Shim, Jong Joon; Kim, Ho Kyun; Shim, Jae Chan; Lee, Kyoung Eun; Lee, Ghi Jai; Suh, Jung Ho; Hong, Seong Woo; Lee, Hye Kyung [Seoul Paik Hospital/Inje Univ. College of Medicine, Seoul (Korea, Republic of)

2012-07-15

Rosai Dorfman disease involves an abnormal proliferation of histiocytes. This abnormal growth tends to occur within the lymph nodes, with occasional extranodal presentation. Rosai Dorfman disease is a rare disease, and the extranodal cases are even more uncommon. We report a rare case of extranodal Rosai Dorfman disease in multiple sites in a 56 year old male patient. Abdominopelvic CT revealed soft tissue attenuation masses, encasing both the renal pelvis and both ureters, as well as the thoracic vertebra. Following the neck sonography, both submandibular glands had an enlarged honey combed appearance. Although Rosai Dorfman disease is rare, it should be considered as a potential differential diagnosis when multiple sites involving soft tissue attenuation masses are observed with sonogram and CT.

Complete Heart Block with Diastolic Heart Failure and Pulmonary Edema Secondary to Enlarging Previously Diagnosed Thrombosed Aneurysm of Sinus of Valsalva in a Patient with History of Autosomal Dominant Polycystic Kidney Disease

Directory of Open Access Journals (Sweden)

Sherif Ali Eltawansy

2015-01-01

Full Text Available Autosomal dominant polycystic kidney disease (ADPKD is associated with vascular aneurysms that can affect any part of the vascular tree, like ascending aorta or coronary arteries. Sinus of Valsalva is known as an anatomical dilation at the root of aorta above the aortic valve and very few cases show aneurysm at that site in patients with ADPKD. Sinus of Valsalva aneurysm (SVA can present with rupture and acute heart failure and infective endocarditis or could be asymptomatic accidentally discovered during cardiac catheterization. We report a case of a 76-year-old male with a unique constellation of cardiovascular anomalies associated with ADPKD. Patient was previously diagnosed with aneurysms affecting ascending aorta, sinus of Valsalva, and coronary arteries. Several years later, he came with complete heart block which was discovered later to be secondary to enlargement of his previously diagnosed thrombosed SVA. His case was complicated with acute heart failure and pulmonary edema. Conclusion. Patients with ADPKD can present with extrarenal manifestations. In our case, aneurysm at sinus of Valsalva was progressively enlarging and presented with complete heart block.

Families Affected by Huntington's Disease Report Difficulties in Communication, Emotional Involvement, and Problem Solving.

Science.gov (United States)

Jona, Celine M H; Labuschagne, Izelle; Mercieca, Emily-Clare; Fisher, Fiona; Gluyas, Cathy; Stout, Julie C; Andrews, Sophie C

2017-01-01

Family functioning in Huntington's disease (HD) is known from previous studies to be adversely affected. However, which aspects of family functioning are disrupted is unknown, limiting the empirical basis around which to create supportive interventions. The aim of the current study was to assess family functioning in HD families. We assessed family functioning in 61 participants (38 HD gene-expanded participants and 23 family members) using the McMaster Family Assessment Device (FAD; Epstein, Baldwin and Bishop, 1983), which provides scores for seven domains of functioning: Problem Solving; Communication; Affective Involvement; Affective Responsiveness; Behavior Control; Roles; and General Family Functioning. The most commonly reported disrupted domain for HD participants was Affective Involvement, which was reported by 39.5% of HD participants, followed closely by General Family Functioning (36.8%). For family members, the most commonly reported dysfunctional domains were Affective Involvement and Communication (both 52.2%). Furthermore, symptomatic HD participants reported more disruption to Problem Solving than pre-symptomatic HD participants. In terms of agreement between pre-symptomatic and symptomatic HD participants and their family members, all domains showed moderate to very good agreement. However, on average, family members rated Communication as more disrupted than their HD affected family member. These findings highlight the need to target areas of emotional engagement, communication skills and problem solving in family interventions in HD.

Secondary hip dysplasia in Legg-Calvé-Perthes disease - a long-term case-control study

DEFF Research Database (Denmark)

Froberg, Lonnie; Christensen, Finn; Pedersen, Niels Wisbech

Poor long-time results in Legg-Calvé-Perthes disease (LCP) have in previous reports been attributed to the presence of degenerative joint disease due to deformities of the femoral head. Reports have stated that hip dysplasia (HD) pre-dispose to hip osteoarthritis (OA). The increased risk of OA...... excluded, however we do not have any reason to believe that they were excluded systematically. The reviewed Stulberg classification was used. The advantages of the classification included the simplicity of application and reliability with good inter- and intraobserver agreement. Previous report has also...

Monolobar Caroli's Disease in Left Lobe of the Liver: A Case Report

Energy Technology Data Exchange (ETDEWEB)

Cho, Han Il; Lee, Young Hwan; Jeon, Se Jeong; Roh, Byung Suk; Juhng, Seon Kwan [Wonkwang University Hospital, Iksan (Korea, Republic of)

2010-06-15

Caroli's disease is a rare congenital hepatobiliary disease characterized by multifocal segmental dilatation of the intrahepatic bile ducts and hepatic fibrosis that can cause bile duct stones, cholangitis, and cholangiocarcinoma. The disease may diffusely affect the liver or be localized to one lobe or segment. Less than 20% of all reported cases of Caroli's disease are the monolobar type. We report a case of Caroli's disease of the monolobar type, which was confined to segment 4a of the liver in a 30-year-old man. The disease was diagnosed by CT and Gd-EOB-DTPA enhanced MRI, and confirmed histopathologically after a hepatic lobectomy

The role of mass media in disease outbreak reporting in the United ...

African Journals Online (AJOL)

Tanzania Journal of Health Research ... Emerging infectious diseases and the growth of information communication technology have produced ... An analysis of disease outbreak information and reporting by the Tanzanian mass media was ...

Chronic Chagas disease: PCR-xenodiagnosis without previous microscopic observation is a useful tool to detect viable Trypanosoma cruzi

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Miguel Saavedra

2013-01-01

Full Text Available We evaluate the elimination of the microscopic stage of conventional xenodiagnosis (XD to optimize the parasitological diagnosis of Trypanosoma cruzi in chronic Chagas disease. To this purpose we applied under informed consent two XD cages to 150 Chilean chronic chagasic patients. The fecal samples (FS of the triatomines at 30, 60 and 90 days post feeding were divided into two parts: in one a microscopic search for mobile trypomastigote and/or epimastigote forms was performed. In the other part, DNA extraction-purification for PCR directed to the conserved region of kDNA minicircles of trypanosomes (PCR-XD, without previous microscopic observation was done. An XD was considered positive when at least one mobile T. cruzi parasite in any one of three periods of incubation was observed, whereas PCR-XD was considered positive when the 330 bp band specific for T. cruzi was detected. 25 of 26 cases with positive conventional XD were PCR-XD positive (concordance 96.2%, whereas 85 of 124 cases with negative conventional XD were positive by PCR-XD (68.5%. Human chromosome 12 detected by Real-time PCR used as exogenous internal control of PCR-XD reaction allowed to discounting of PCR inhibition and false negative in 40 cases with negative PCR-XD. Conclusion: PCR-XD performed without previous microscopic observation is a useful tool for detection of viable parasites with higher efficiency then conventional XD.

Urethrotomy has a much lower success rate than previously reported.

Science.gov (United States)

Santucci, Richard; Eisenberg, Lauren

2010-05-01

We evaluated the success rate of direct vision internal urethrotomy as a treatment for simple male urethral strictures. A retrospective chart review was performed on 136 patients who underwent urethrotomy from January 1994 through March 2009. The Kaplan-Meier method was used to analyze stricture-free probability after the first, second, third, fourth and fifth urethrotomy. Patients with complex strictures (36) were excluded from the study for reasons including previous urethroplasty, neophallus or previous radiation, and 24 patients were lost to followup. Data were available for 76 patients. The stricture-free rate after the first urethrotomy was 8% with a median time to recurrence of 7 months. For the second urethrotomy stricture-free rate was 6% with a median time to recurrence of 9 months. For the third urethrotomy stricture-free rate was 9% with a median time to recurrence of 3 months. For procedures 4 and 5 stricture-free rate was 0% with a median time to recurrence of 20 and 8 months, respectively. Urethrotomy is a popular treatment for male urethral strictures. However, the performance characteristics are poor. Success rates were no higher than 9% in this series for first or subsequent urethrotomy during the observation period. Most of the patients in this series will be expected to experience failure with longer followup and the expected long-term success rate from any (1 through 5) urethrotomy approach is 0%. Urethrotomy should be considered a temporizing measure until definitive curative reconstruction can be planned. 2010 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.

Infectious diseases in Poland in 2015

Science.gov (United States)

Sadkowska-Todys, Małgorzata; Zieliński, Andrzej; Czarkowski, Mirosław P.

2017-01-01

This is the next annual analysis of the situation of infectious and parasitic diseases in Poland in 2015 within the framework of the Epidemiological Chronicle of Przegląd Epidemiologiczny - Epidemiological Review. Its purpose is to identify potential threats to the health of populations from infectious diseases occurring in Poland with reference to other parts of the globe. This paper is an introduction to more detailed studies of the epidemiological situation of selected infectious diseases and summarizes the results of the surveillance of infectious diseases in Poland in 2015. References to epidemiological situation in other countries are limited to situations that may affect current or potential occurrence of the disease in Poland. The main source of epidemiological information for this summary is the data from the reports of the State Sanitary Inspection included in the annual bulletins “Infectious Diseases and Poisonings in Poland in 2015” and “Vaccination in Poland in 2015” (1, 2). The epidemiological situation of particular diseases is further elaborated in the Epidemiological Chronicle of the same issue of the Epidemiological Review. Data on deaths are based on the presentation of the Demographic and Labor Market Department of the Central Statistical Office on deaths from infectious and parasitic diseases registered in Poland in 2015 and earlier. For a long time, the most common diseases among epidemiological surveillance it is upper respiratory tract infections classified as “influenza and suspected influenza”. In 2015, the number of cases was 3,843,438 (9 994,7 / 100,000). As to compare with the 2014’s incidence, this was an increase of 22.6%. In 2015, incidence of intestinal infections with etiology of salmonella increased by 2.8% compared to the previous year, but compared to the median of 2009-2013 was 2.5% lower. A serious epidemiological problem is a strong upward trend in nosocomial infections including infections caused by

Patient-Reported Disease Activity and Adverse Pregnancy Outcomes in Systemic Lupus Erythematosus and Rheumatoid Arthritis.

Science.gov (United States)

Harris, Nathaniel; Eudy, Amanda; Clowse, Megan

2018-06-15

While increased rheumatic disease activity during pregnancy has been associated with adverse pregnancy outcomes, this activity is typically assessed by the physician. Little is known, however, about the association between patient-reported measures of disease activity and pregnancy outcomes. Univariate and multivariable regression models were used to assess the relationship between patient and physician-reported measures of disease activity and adverse pregnancy outcomes in 225 patients with lupus or rheumatoid arthritis (RA) enrolled in a prospective registry at a single academic center from 2008-2016. In women with RA, patient-reported disease activity is associated with preterm birth (OR 5.9 (1.5-23.9)), and gestational age (beta -1.5 weeks (-2.6, -0.4 weeks)). The physician assessment of disease activity also predicted preterm (OR 2.1 (1.2-3.5)), small for gestational age births (OR 1.8 (1.03-3.1), and gestational age in weeks (beta -0.6 weeks (-0.9, -0.02 weeks)). On the other hand, SLE patient-reported disease activity measures, including the HAQ, pain or global health measures, are not associated with adverse pregnancy outcomes. However, physician measures of SLE disease activity are associated with preterm birth (OR 2.9 (1.-6.3)), cesarean delivery (OR 2.3 (1.0-5.3)), and preeclampsia (OR 2.8 (1.3-6.3)). The results do not appear to be driven by lupus nephritis or antiphospholipid syndrome. For women with RA, patient-reported measures of disease activity may be useful adjuncts to physician-reported measures in identifying pregnancies at greater risk. In contrast, in SLE, no patient-reported measures were associated with adverse outcomes while physician measures of disease activity helped predict several adverse pregnancy outcomes. This article is protected by copyright. All rights reserved. This article is protected by copyright. All rights reserved.

Simultaneous Presentation of Duane Retraction Syndrome and Coats' Disease: A Case Report

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Mohammad Sharifi

2014-07-01

Conclusion: The occurrence of two different congenital and acquired ocular diseases is rare. This is the first simultaneous presentation of Duane syndrome and Coats' disease ever to be reported in a young patient.

Patient-Reported Outcome and Observer-Reported Outcome Assessment in Rare Disease Clinical Trials: An ISPOR COA Emerging Good Practices Task Force Report.

Science.gov (United States)

Benjamin, Katy; Vernon, Margaret K; Patrick, Donald L; Perfetto, Eleanor; Nestler-Parr, Sandra; Burke, Laurie

Rare diseases (RDs) affect a small number of people within a population. About 5000 to 8000 distinct RDs have been identified, with an estimated 6% to 8% of people worldwide suffering from an RD. Approximately 75% of RDs affect children. Frequently, these conditions are heterogeneous; many are progressive. Regulatory incentives have increased orphan drug designations and approvals. To develop emerging good practices for RD outcomes research addressing the challenges inherent in identifying, selecting, developing, adapting, and implementing patient-reported outcome (PRO) and observer-reported outcome (ObsRO) assessments for use in RD clinical trials. This report outlines the challenges and potential solutions in determining clinical outcomes for RD trials. It follows the US Food and Drug Administration Roadmap to Patient-Focused Outcome Measurement in Clinical Trials. The Roadmap consists of three columns: 1) Understanding the Disease or Condition, 2) Conceptualizing Treatment Benefit, and 3) Selecting/Developing the Outcome Measure. Challenges in column 1 include factors such as incomplete natural history data and heterogeneity of disease presentation and patient experience. Solutions include using several information sources, for example, clinical experts and patient advocacy groups, to construct the condition's natural history and understand treatment patterns. Challenges in column 2 include understanding and measuring treatment benefit from the patient's perspective, especially given challenges in defining the context of use such as variations in age or disease severity/progression. Solutions include focusing on common symptoms across patient subgroups, identifying short-term outcomes, and using multiple types of COA instruments to measure the same constructs. Challenges in column 3 center around the small patient population and heterogeneity of the condition or study sample. Few disease-specific instruments for RDs exist. Strategies include adapting existing

PRIMARY GIANT HYDATID DISEASE OF THE SPLEEN: A RARE CASE REPORT WITH REVIEW OF LITERATURE

Directory of Open Access Journals (Sweden)

Subramanyam

2015-02-01

Full Text Available The most common organ involved in hydatid disease is the liver, followed by the lungs. Hydatid disease of spleen is a rare clinical condition, as even in the endemic region the frequency is reported to be 0.5 – 4% of abdominal hydatid diseases. Most commonly splenic involvement is secondary i.e., along with other organs. Primary hydatid diseases in s pleen is rare, here we are reporting a rare case of primary splenic hydatid disease

Unexpected finding of T-cell lymphoma in a previously healthy 16-year-old patient after a thorax trauma: a case report

DEFF Research Database (Denmark)

Bach Okholm-Hansen, Anna; Brorson, Stig

2014-01-01

INTRODUCTION: We describe the clinical course and emphasize the difficulties in diagnosing T-cell lymphoblastic lymphoma. The differential diagnostic difficulties have previously been described in regard to pneumonia, but to the best of the authors' knowledge this is the first case report to desc...... relevant to pediatricians, surgeons, anesthesiologists, and general practitioners....

A rare disease in an atypical location - Kimura's Disease of the upper extremity

Energy Technology Data Exchange (ETDEWEB)

Lam, Alan Cheuk Si; Lau, Vince Wing Hang [Queen Mary Hospital, Department of Radiology, Hong Kong (China); Au Yeung, Rex Kwok Him [University of Hong Kong, Department of Pathology, Li Ka Shing Faculty of Medicine, Hong Kong (China)

2015-12-15

Kimura's disease is a rare chronic inflammatory disorder predominantly affecting young Asian male patients, occurring mainly in the head and neck regions. Kimura's disease of the upper extremity is extremely rare, and previous case reports in the literature show similar imaging characteristics with consistent location at the medial epitrochlear region, predominantly with unilateral involvement. We present the first reported case of Kimura's disease affecting the anterolateral aspect of the upper arm, sparing the medial epitrochlear region, illustrating that with typical MR appearance and serology, the involvement of this rare disease in an atypical location still warrants consideration of this diagnosis. There was also bilateral asymmetrical involvement in our patient, suggesting the possibility of a propensity for Kimura's disease affecting the upper extremities to have bilateral involvement, which may necessitate imaging of the clinically asymptomatic contralateral limb in these patients for early lesion identification and treatment. (orig.)

A rare disease in an atypical location - Kimura's Disease of the upper extremity

International Nuclear Information System (INIS)

Lam, Alan Cheuk Si; Lau, Vince Wing Hang; Au Yeung, Rex Kwok Him

2015-01-01

Kimura's disease is a rare chronic inflammatory disorder predominantly affecting young Asian male patients, occurring mainly in the head and neck regions. Kimura's disease of the upper extremity is extremely rare, and previous case reports in the literature show similar imaging characteristics with consistent location at the medial epitrochlear region, predominantly with unilateral involvement. We present the first reported case of Kimura's disease affecting the anterolateral aspect of the upper arm, sparing the medial epitrochlear region, illustrating that with typical MR appearance and serology, the involvement of this rare disease in an atypical location still warrants consideration of this diagnosis. There was also bilateral asymmetrical involvement in our patient, suggesting the possibility of a propensity for Kimura's disease affecting the upper extremities to have bilateral involvement, which may necessitate imaging of the clinically asymptomatic contralateral limb in these patients for early lesion identification and treatment. (orig.)

An Unusual Presentation of Addison's Disease-A Case Report.

Science.gov (United States)

Choudhary, Sandeep; Alam, Anwer; Dewan, Vivek; Yadav, Dinesh; Dubey, N K

2011-07-01

Addison's disease is most commonly due to autoimmune adrenalitis and tuberculosis and refers to primary hypoadrenalism caused by a total or near total destruction or dysfunction of both adrenal cortices. Usual manifestations involve chronic fatigue, muscle weakness, loss of appetite, nausea, vomiting, diarrhea, hypotension and hyperpigmentation of skin. We herein report a case of primary adrenal insufficiency presenting with fever and seizures in an 11-yr-old boy. His symptoms resolved after starting specific therapy. This kind of presentation of Addison's disease is rather unusual.

Quantitative Fundus Autofluorescence in Recessive Stargardt Disease

OpenAIRE

Burke, Tomas R.; Duncker, Tobias; Woods, Russell L.; Greenberg, Jonathan P.; Zernant, Jana; Tsang, Stephen H.; Smith, R. Theodore; Allikmets, Rando; Sparrow, Janet R.; Delori, François C.

2014-01-01

Quantitative fundus autofluorescence (qAF) is significantly increased in Stargardt disease, consistent with previous reports of increased RPE lipofuscin. QAF will help to establish genotype-phenotype correlations and may serve as an outcome measure in clinical trials.

Update to agency for toxic substances and disease registry 2012 report on assessment of biota exposure to mercury originating from Savannah River Site.

Energy Technology Data Exchange (ETDEWEB)

Kuhne, W. [Savannah River Site (SRS), Aiken, SC (United States)

2015-08-10

The purpose of this report is to 1) update previous Savannah River National Laboratory (SRNL) assessment reports (Kvartek et al. 1994 and Halverson et al. 2008) on the fate of mercury in the Savannah River Site (SRS) environment and 2) address comments and recommendations from the review of SRS by the Agency for Toxic Substances and Disease Registry (ATSDR) concerning the evaluation of exposures to contaminants in biota originating from the SRS. The ATSDR reviewed and evaluated data from SRS, South Carolina Department of Health & Environmental Control (SCDHEC) and the Georgia Department of Natural Resources (GDNR) concerning the non-radioactive contaminant mercury. This report will provide a response and update to conclusions and recommendations made by the ATSDR.

Huntington\\'s disease: Genetic heterogeneity in black African patients

African Journals Online (AJOL)

Objective. Huntington's disease (HD) has been reported to occur rarely in black patients. A new genetic variant– Huntington's disease-like 2 (HDL2) – occurring more frequently in blacks, has recently been described. The absence of an expanded trinucleotide repeat at the chromosome 4 HD locus was previously regarded ...

Thoracic CT findings of adult-onset still's disease: a case report

International Nuclear Information System (INIS)

Choi, Sun Young; Kim, Ki Jun; Lee, Jung Whee; Lee, Sung Yong; Hong, Yeon Sik

2006-01-01

Adult-onset of Still's disease is a rare systemic rheumatic disorder. It involves various organs including the lungs and pleura. We report here the CT findings of a patient with the thoracic manifestations of Still's disease, including axillary and mediastinal lymphadenopathies, pleural and pericardial effusions and infiltrations in both lung bases

Pulmonary Gaucher's disease: high-resolution computed tomographic features

International Nuclear Information System (INIS)

Tunaci, A.; Berkmen, Y.M.; Goekmen, E.

1995-01-01

CT findings in pulmonary Gaucher's disease have not been previously reported. Chest radiograph of a patient with pulmonary involvement in type I Gaucher's disease proven by biopsy showed linear and reticulo-nodular opacities. High-resolution CT demonstrated thickening of the interlobular septa and between four and six small nodules within secondary lobules, probably each corresponding to an acinus. (orig.)

Focal changes of the spleen in one case of Gaucher disease - assessed by ultrasonography, CT, MRI and angiography

International Nuclear Information System (INIS)

Aspestrand, F.; Charania, B.; Scheel, B.; Kolmannskog, F.; Jacobsen, M.

1989-01-01

Focal lesions of the spleen in one case of Gaucher disease are demonstrated by ultrasonography, CT, MRI and angiography. The sonographic and angiographic features differ from the findings presented in previous reports. The Gaucher manifestations in the spleen as demonstrated by CT, do not seem to have been reported previously. An earlier report on the MR findings in the liver and spleen in this disease did not disclose any focal abnormalities. In this case, ultrasonography and MRI revealed a targetlike configuration of the focal lesions. An attempt is made to analyze the more complex patterns disclosed by MRI against the background of the manifestations by the other imaging modalities and previous reports. (orig.) [de

Visual Hallucinations Due to Rivastigmine Transdermal Patch Application in Alzheimer's Disease; The First Case Report

Directory of Open Access Journals (Sweden)

Yıldız Değirmenci

2016-12-01

Full Text Available Rivastigmine is a well-known dual acting acetylcholinesterase and butyrylcholinesterase inhibitor, which is effective on behavioral and psychiatric symptoms including hallucinations, as well as cognitive symptoms of dementia. The most common adverse effects of rivastigmine related to cholinergic stimulation in brain and peripheral tissues are gastrointestinal, cardiorespiratory, extrapyramidal, genitourinary, musculoskeletal symptoms, sleep disturbances, and skin irritations with the transdermal patch form in particular. Despite to the previous reports revealing the improving effects of the drug on hallucinations, we presented a-80 year old women with Alzheimer's disease suffering from visual hallucinations whose complaints began with rivastigmine treatment. Since the patient had recent memory disturbance without any behavioral and/or psychiatric symptoms before rivastigmine administration, and visual hallucinations disappeared with the discontinuation of the drug, visual hallucinations were attributed to rivastigmine.

Parvovirus B19 infection in an adult presenting with connective tissue disease-like symptoms: a report of the clinical and histological findings.

Science.gov (United States)

Liles, J E; Shalin, S C; White, B A; Trigg, L B; Kaley, J R

2017-06-15

Parvovirus B19 infections in adults are usually associated with nonspecific and mild symptoms. However, cases presenting with a lupus-like syndrome have been described, leading to the hypothesis that parvovirus infection can induce connective tissue disease. Various histopathologic features of cutaneous manifestations of parvovirus have been reported, including features which overlap with those of connective tissue disease. Herein, we discuss an unusual case of Parvovirus  B19 infection in a middle-aged woman. The biopsy results showed granulomatous vasculitis and were consistent with the previously described superantigen id reaction. This case demonstrates that infectious causes should be considered in the differential diagnosis for granulomatous vasculitis and clinicopathologic correlation is required for accurate diagnosis. We also provide a review of the literature highlighting the possible role of parvovirus in induction of a connective tissue disease-like presentation.

Prion diseases are efficiently transmitted by blood transfusion in sheep

OpenAIRE

Houston, F.; McCutcheon, S.; Goldmann, W.; Chong, A.; Foster, J.; Siso, S.; Gonzalez, L.; Jeffrey, M.; Hunter, N.

2008-01-01

The emergence of variant Creutzfeld-Jakob disease, following on from the bovine spongiform encephalopathy (BSE) epidemic, led to concerns about the potential risk of iatrogenic transmission of disease by blood transfusion and the introduction of costly control measures to protect blood supplies. We previously reported preliminary data demonstrating the transmission of BSE and natural scrapie by blood transfusion in sheep. The final results of this experiment, reported here, give unexpectedly ...

[Mondor's disease of penis: A case report].

Science.gov (United States)

Marsaudon, E; Legal, C; Gayoux, D; Weber, O

2016-09-01

Mondor's disease is a rare superficial thrombophlebitis, historically involving the thoracic venous system of women. However, it can occur in both gender and all over the skin. We report a 40-year-old man with type one diabetes who presented with a thrombosis of the superficial dorsal vein of the penis that he treated as a fungal infection. Treatment with non-steroidal anti-inflammatory drugs and low molecular weight heparin contributed to a favorable outcome in 2 weeks. Pathogenesis and treatment of Mondor's disease remain incompletely dominated. Some predisposing factors have been highlighted in the literature. It might be interesting to add diabetes, due to its frequent pelvic problems leading to a potential venous inflammatory trigger. Copyright © 2015 Société Nationale Française de Médecine Interne (SNFMI). Published by Elsevier SAS. All rights reserved.

Dental erosion caused by gastroesophageal reflux disease: a case report

OpenAIRE

Cengiz, Seda; Cengiz, M ?nan?; Sara?, Y ?inasi

2009-01-01

Introduction Chronic regurgitation of gastric acids in patients with gastroesophageal reflux disease may cause dental erosion, which can lead in combination with attrition or bruxism to extensive loss of coronal tooth tissue. Case presentation This clinical report describes treatment of severe tooth wear of a gastroesophageal reflux disease patient who is 54-year-old Turkish male patient. After his medical treatment, severe tooth wear, bruxism and decreased vertical dimensions were determined...

Prenatal diethylstilbestrol exposure and self-reported immune-related diseases

NARCIS (Netherlands)

Vingerhoets, A. J.; Assies, J.; Goodkin, K.; van Heck, G. L.; Bekker, M. H.

1998-01-01

To compare self-reports of immune-related diseases in diethylstilbestrol (DES) daughters and controls. Prenatal exposure to DES has been associated with several malformations in the lower genital tract, a higher prevalence of adenosis, and increased risk of clear cell adenocarcinoma, and

Periodontal disease and systemic diseases in an older population.

Science.gov (United States)

Özçaka, Özgün; Becerik, Sema; Bıçakcı, Nurgün; Kiyak, Asuman H

2014-01-01

To evaluate the relationship between older adults' medical and oral conditions and their self-reports of periodontal conditions with clinically obtained data. Concerns about oral health of elders and its association with systemic diseases have been gaining more attention. A total of 201 older subjects were interviewed about their previous medical and dental histories and were asked to complete a health questionnaire. Each subject received full mouth exam, including counting number of natural teeth remaining, gingival (GI) and plaque index (PI), CPITN and denture status. Elders who completed health questionnaires had mean age of 62.5. Mean CPITN score was 1.62(± 1.12), PI was 1.57(± 1.48), and GI was 1.55(± 1.31). Women had higher prevalence of CVD and osteoporosis than men (p=0.008, p=0.0001, respectively). Subjects who reported bleeding upon brushing had higher PI and GI scores (p=0.03, p=0.05, respectively). Smokers were more likely to describe their periodontal tissues as unhealthy (72.3% vs. 27.7%, p=0.01), whereas self-reports of healthy vs. unhealthy gums did not differ between non-smokers. These findings suggest that a number of systemic conditions are associated with indicators of periodontal disease, and self-reports of oral conditions are independent of systemic diseases. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

Placenta Percreta Invading Broad Ligament and Parametrium in a Woman with Two Previous Cesarean Sections: A Case Report

Directory of Open Access Journals (Sweden)

Mansoureh Vahdat

2012-01-01

Full Text Available Introduction. The incidence of placenta accreta has dramatically increased due to increasing caesarean section rate all over the world. Placenta percreta is the most severe form of placenta accretes. It frequently results in maternal morbidity and mortality mainly caused by massive obstetric hemorrhage or emergency hysterectomy. Percreta invading into the broad ligament has rarely been previously reported. Case presenting. We presented a case of placenta percreta invading left broad ligament and parametrium in a woman with two previous cesarean sections, which led to massive intraoperative hemorrhage during hysterectomy and transient ischemic encephalopathy. Conclusion. In cases of parametrial involvement, it would be more difficult to decide whether to remove placenta or leave it in site. In surgical removal neither local excision of placental bed and uterine repair nor traditional hysterectomy is adequate if parametrium invaded by placenta. We suggest delayed elective hysterectomy in such cases. So, pregnancy-induced pelvic congestion would be decreased, we can gather an expert team of gynecologists, urologists, and vascular surgeons, we could get plenty of blood products, and we may have the chance to administer methotrexate.

[Evaluation and analysis of monitoring and early warning functions of the occupational disease reporting system in China].

Science.gov (United States)

Zhu, Xiaojun; Li, Tao; Liu, Mengxuan

2015-06-01

To evaluate the monitoring and early warning functions of the occupational disease reporting system right now in China, and to analyze their influencing factors. An improved audit tool (ODIT) was used to score the monitoring and early warning functions with a total score of 10. The nine indices were completeness of information on the reporting form, coverage of the reporting system, accessibility of criteria or guidelines for diagnosis, education and training for physicians, completeness of the reporting system, statistical methods, investigation of special cases, release of monitoring information, and release of early warning information. According to the evaluation, the occupational disease reporting system in China had a score of 5.5 in monitoring existing occupational diseases with a low score for release of monitoring information; the reporting system had a score of 6.5 in early warning of newly occurring occupational diseases with low scores for education and training for physicians as well as completeness of the reporting system. The occupational disease reporting system in China still does not have full function in monitoring and early warning. It is the education and participation of physicians from general hospitals in the diagnosis and treatment of occupational diseases and suspected occupational diseases that need to be enhanced. In addition, the problem of monitoring the incidence of occupational diseases needs to be solved as soon as possible.

Unilateral segmental Darier disease following Blaschko lines: A case report

Directory of Open Access Journals (Sweden)

César Bimbi

2017-07-01

Full Text Available Darier disease is an autosomal-dominant disorder of keratin production which leads to a loss in epithelial adhesion and abnormal keratinization. The clinical correspondence is keratotic papules grouped in sebaceous areas of trunk, scalp, forehead and flexures. It is a rare disease and the variant focused on here of unilateral segmental distribution following the lines of Blaschko is rarer still, considering the fact that this presentation counts for only 10% of this already uncommom disease and with only 40 cases being reported in English medical literature. Mutation in this gene is expressed in the skin and brain. The treatment of Darier disease can be challenging and is often difficult and sometimes unsatisfactory. Systemic retinoids are considered the drug of choice for treating Darier disease. However, their use is limited by potential side effects. We described the case a metalworker male with unilateral segmental Darier disease following Blaschko lines and we review the literature on this subject.

[Familial astrocytoma associated with von Recklinghausen's disease: report of two cases].

Science.gov (United States)

Ito, Y; Oki, S; Mikami, T; Ogasawara, H; Kawamoto, Y; Sato, H; Yamaguchi, S; Hayashi, Y; Shindo, H

1997-03-01

Two cases of astrocytoma associated with von Recklinghausen's disease (neurofibromatosis type; NF-1) were reported. The first case wes a 60-year-old man who had been diagnosed as von Recklinghausen's disease on the basis of skin findings. Magnetic resonance imaging (MRI) showed a tumor in the left temporal lobe. Partial removal was performed with neuronavigator, and because of the existence of Rosenthal fiber the histological diagnosis was pilocytic astrocytoma. Radiation therapy was performed. The second case was a 6-year-old boy suffering from headache and left hemiparesis including his face. MRI showed a tumor with a cyst in the right thalamus and obstructive hydrocephalus. Initially CT-guided stereotactic biopsy was performed, and the histological diagnosis, on the basis of increased cellularity, pleomorphism and nuclear atypia without necrosis or vascular proliferation, was anaplastic astrocytoma. Radiation and chemo-immuno therapy were carried out after V-P shunt. It is well known that von Recklinghausen's disease (NF-1) is often associated with optic glioma (5-36%). In the literature, the glioma seldom occurs in other parts of the brain, supratentorial glioma especially is rare. Only two familial cases of supratentorial glioma associated with von Recklinghausen's disease have been reported. The prognosis of supratentorial glioma associated with NF-1 was poor in these reports. In this paper, the diagnostic and therapeutic problems are discussed.

Danon disease: A case report and literature overview

Directory of Open Access Journals (Sweden)

Ćatović Suad

2007-01-01

Full Text Available Danon disease, a rare glycogen storage disease, is a dominant X-linked disorder. It is due to mutation in gene for lysosome-associated membrane protein 2 (LAMP 2. The LAMP 2 gene is located on Xq24, and its mutation causes primary deficiency of LAMP 2 and myocyte hypertrophy by accumulations of vacuoles containing glycogen. Danon disease is clinically characterized by the triad of hypertrophic cardiomyopathy (HCM, proximal myopathy and mental retardation. Myopathy and mental retardation can be absent, and cardiomyopathy is usually hypertrophic. This is a case report of the patient with genetically confirmed Danon disease and mixed cardiomyopathy, but without myopathy and mental retardation. ECG showed typical Wolff-Parkinson-White (WPW pattern while echocardiography demonstrated hypertrophy and dilatation of all cardiac chambers with impaired systolic and diastolic function. Male sex, early onset of symptoms, massive hypertrophy of the myocardium and ventricular preexcitation indicate a genetic basis for HCM. Therapeutic measures, except heart transplantation, do not improve prognosis substantially. Only an accurate diagnosis in patients with unexplained HCM helps in establishing of the appropriate treatment strategies and adequate genetic consultation. .

Successful switch from enzyme replacement therapy to miglustat in an adult patient with type 1 Gaucher disease: a case report.

Science.gov (United States)

Giuffrida, Gaetano; Lombardo, Rita; Di Francesco, Ernesto; Parrinello, Laura; Di Raimondo, Francesco; Fiumara, Agata

2016-11-08

Gaucher disease is one of the most common lipid-storage disorders, affecting approximately 1 in 75,000 births. Enzyme replacement therapy with recombinant glucocerebrosidase is currently considered the first-line treatment choice for patients with symptomatic Gaucher disease type 1. Oral substrate reduction therapy is generally considered a second-line treatment option for adult patients with mild to moderate Gaucher disease type 1 who are unable or unwilling to receive lifelong intravenous enzyme infusions. The efficacy and safety of the oral substrate reduction therapy miglustat (Zavesca®) in patients with Gaucher disease type 1 have been established in both short-term clinical trials and long-term, open-label extension studies. Published data indicate that miglustat can be used as maintenance therapy in patients with stable Gaucher disease type 1 switched from previous enzyme replacement therapy. We report a case of a 44-year-old Caucasian man with Gaucher disease type 1 who was initially treated with enzyme replacement therapy but, owing to repeated cutaneous allergic reactions, had to be switched to miglustat after several attempts with enzyme replacement therapy. Despite many attempts, desensitization treatment did not result in improved toleration of imiglucerase infusions, and the patient became unwilling to continue with any intravenous enzyme replacement therapy. He subsequently agreed to switch to oral substrate reduction therapy with miglustat 100 mg twice daily titrated up to 100 mg three times daily over a short period. Long-term miglustat treatment maintained both hemoglobin and platelet levels within acceptable ranges over 8 years. The patient's spleen volume decreased, his plasma chitotriosidase levels stayed at reduced levels, and his bone mineral density findings have remained stable throughout follow-up. The patient's quality of life has remained satisfactory. Miglustat showed good gastrointestinal tolerability in this patient, and no

How tobacco smoke causes disease: the biology and behavioral basis for smoking-attributable disease : a report of the Surgeon General

National Research Council Canada - National Science Library

2010-01-01

.... This report specifically reviews the evidence on the potential mechanisms by which smoking causes diseases and considers whether a mechanism is likely to be operative in the production of human disease by tobacco smoke...

Reporting diet-related health issues through newspapers: portrayal of cardiovascular disease and Type 2 diabetes.

Science.gov (United States)

Hellyer, Nicole Elizabeth; Haddock-Fraser, Janet

2011-02-01

This study identifies (i) the extent to which newsprint media communicate to their readers the lifestyle factors associated with the development of cardiovascular disease and Type 2 diabetes and (ii) newspaper portrayal of social determinants affecting onset of disease. A content analysis of five leading UK national newspapers and their Sunday equivalents was conducted over a 3-month period between January and March 2008. This study shows that cardiovascular disease had much higher press interest than Type 2 diabetes. 'Middle-market' and 'Quality' papers had higher levels of reporting than the 'Popular' press, but the patterns were more complex when the comprehensiveness of reporting was measured within each article. Social determinants affecting disease onset were poorly reported by newspapers, supporting similar research conducted in other countries. This research identifies that there is potential for newspapers to improve their reporting of lifestyle diseases, by including individual and social determinants of disease onset. Lower social classes who read the popular press receive the lowest frequency of reporting and could benefit most from this information. While the research identifies that newspapers are missing the potential to actively communicate and reinforce government health policy, it recognises that the commercial context of the print media may counter such behaviour.

Lyme disease caused by Borrelia burgdorferi with two homeologous 16S rRNA genes: a case report

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Lee SH

2016-04-01

Full Text Available Sin Hang Lee,1,21Pathology Department, Milford Hospital, Milford, CT, USA; 2Milford Molecular Diagnostics, Milford, CT, USA Abstract: Lyme disease (LD, the most common tick-borne disease in North America, is believed to be caused exclusively by Borrelia burgdorferi sensu stricto and is usually diagnosed by clinical evaluation and serologic assays. As reported previously in a peer-reviewed article, a 13-year-old boy living in the Northeast of the USA was initially diagnosed with LD based on evaluation of his clinical presentations and on serologic test results. The patient was treated with a course of oral doxycycline for 28 days, and the symptoms resolved. A year later, the boy developed a series of unusual symptoms and did not attend school for 1 year. A LD specialist reviewed the case and found the serologic test band patterns nondiagnostic of LD. The boy was admitted to a psychiatric hospital. After discharge from the psychiatric hospital, a polymerase chain reaction test performed in a winter month when the boy was 16 years old showed a low density of B. burgdorferi sensu lato in the blood of the patient, confirmed by partial 16S rRNA (ribosomal RNA gene sequencing. Subsequent DNA sequencing analysis presented in this report demonstrated that the spirochete isolate was a novel strain of B. burgdorferi with two homeologous 16S rRNA genes, which has never been reported in the world literature. This case report shows that direct DNA sequencing is a valuable tool for reliable molecular diagnosis of Lyme and related borrelioses, as well as for studies of the diversity of the causative agents of LD because LD patients infected by a rare or novel borrelial variant may produce an antibody pattern that can be different from the pattern characteristic of an infection caused by a typical B. burgdorferi sensu stricto strain. Keywords: Lyme disease, Borrelia burgdorferi, homeologous 16S rRNA genes, DNA sequencing

Creutzfeldt-Jakob disease in Venezuela a case report

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Alejandro J. Caraballo H.

1991-06-01

Full Text Available A case of Creutzfeldt-Jakob disease (CJD in a 32 year old man is presented. The clinical picture included a rapid progressive dementia associated with ataxia, global aphasia, myoclonus and pyramidal signs, death ocurred after 13 months. The diagnosis of CJD was confirmed by CT and neuropathological studies. This is the first report of CJD occurring in Venezuela.

Tibial and fibular angles in homozygous sickle cell disease

International Nuclear Information System (INIS)

Akamaguna, A.I.; Odita, J.C.; Ugbodaga, C.I.; Okafor, L.A.

1986-01-01

Measurements of the tibial and fibular angles made on ankle radiographs of 34 patients with sickle cell disease were compared with those of 36 normal Nigerians. Widening of the fibular angle, which is an indication of tibiotalar slant, was demonstrated in about 79% of sickle cell disease patients. By using fibular angle measurements as an objective method of assessing subtle tibiotalar slant, it is concluded that the incidence of this deformity is much higher among sickle cell disease patients than previously reported. The mean values of tibial and fibular angles in normal Nigerians are higher than has been reported amongst Caucasians. (orig.)

Fibrocystic disease of vulvar ectopic breast tissue. Case report and review of the literature.

Science.gov (United States)

Baykal, C; Tulunay, G; Usubutun, A; Küçükali, T; Ozer, S; Demir, O F

2004-01-01

Mammary glands located in the vulvar region have been named as ectopic breast tissue or anogenital mammary glands by different authors. Literature on pathologies of ectopic breast tissue located in the vulvar region is rare. Most of the reports are about the malignancies arising from this ectopic tissue. We report a case of fibrocystic disease of the mammary glands in the vulva in a 25-year-old pregnant woman. Her disease was exaggerated during pregnancy. Ectopic breast tissue in the vulva is a rare entity and fibrocystic disease of this tissue has rarely been reported in the English literature. Copyright (c) 2004 S. Karger AG, Basel.

Families Affected by Huntington’s Disease Report Difficulties in Communication, Emotional Involvement, and Problem Solving

Science.gov (United States)

Jona, Celine M.H.; Labuschagne, Izelle; Mercieca, Emily-Clare; Fisher, Fiona; Gluyas, Cathy; Stout, Julie C.; Andrews, Sophie C.

2017-01-01

Background: Family functioning in Huntington’s disease (HD) is known from previous studies to be adversely affected. However, which aspects of family functioning are disrupted is unknown, limiting the empirical basis around which to create supportive interventions. Objective: The aim of the current study was to assess family functioning in HD families. Methods: We assessed family functioning in 61 participants (38 HD gene-expanded participants and 23 family members) using the McMaster Family Assessment Device (FAD; Epstein, Baldwin and Bishop, 1983), which provides scores for seven domains of functioning: Problem Solving; Communication; Affective Involvement; Affective Responsiveness; Behavior Control; Roles; and General Family Functioning. Results: The most commonly reported disrupted domain for HD participants was Affective Involvement, which was reported by 39.5% of HD participants, followed closely by General Family Functioning (36.8%). For family members, the most commonly reported dysfunctional domains were Affective Involvement and Communication (both 52.2%). Furthermore, symptomatic HD participants reported more disruption to Problem Solving than pre-symptomatic HD participants. In terms of agreement between pre-symptomatic and symptomatic HD participants and their family members, all domains showed moderate to very good agreement. However, on average, family members rated Communication as more disrupted than their HD affected family member. Conclusion: These findings highlight the need to target areas of emotional engagement, communication skills and problem solving in family interventions in HD. PMID:28968240

Acute chemical pneumonitis caused by nitric acid inhalation: case report

Energy Technology Data Exchange (ETDEWEB)

Choe, Hyung Shim; Lee, In Jae; Ko, Eun Young; Lee, Jae Young; Kim, Hyun Beom; Hwang, Dae Hyun; Lee, Kwan Seop; Lee, Yul; Bae, Sang Hoon [Hallym University Sacred Heart Hospital, Anyang (Korea, Republic of)

2003-06-01

Chemical pneumonitis induced by nitric acid inhalation is a rare clinical condition. The previously reported radiologic findings of this disease include acute permeability pulmonary edema, delayed bronchiolitis obliterans, and bronchiectasis. In very few published rare radiologic reports has this disease manifested as acute alveolar injury; we report a case of acute chemical pneumonitis induced by nitric acid inhalation which at radiography manifested as bilateral perihilar consolidation and ground-glass attenuation, suggesting acute alveolar injury.

Multifocal oral melanoacanthoma associated with Addison's disease and hyperthyroidism: a case report.

Science.gov (United States)

Dantas, Thinali Sousa; Nascimento, Isabelly Vidal do; Verde, Maria Elisa Quezado Lima; Alves, Ana Paula Negreiros Nunes; Sousa, Fabrício Bitu; Mota, Mário Rogério Lima

2017-01-01

Oral melanoacanthoma is a mucocutaneous, pigmented, rare, benign, and probably reactive lesion. This paper reports for the first time in the literature a case of multifocal oral melanoacanthoma in a patient diagnosed with Addison's disease and concomitant Graves' disease with hyperthyroidism. The patient presented with oral pigmented lesions, which were hypothesized to be mucosal pigmentation associated with Addison's disease. Due to their unusual clinical pattern, these oral lesions were biopsied and diagnosed as oral melanoacanthoma on histopathology and immunohistochemistry for HMB-45. At the moment of this report, the patient was being treated for her systemic conditions, but the lesions had not regressed. Reactive hyperpigmentation of the skin and mucous membranes may be found in Addison's disease and hyperthyroidism. This case reinforces the hypothesis of a reactive nature for oral melanoacanthoma and highlights the need for investigation of endocrine disorders in patients with multifocal oral melanoacanthoma.

A middle aged man with Caroli's disease: A case report

Directory of Open Access Journals (Sweden)

Imran Sarker

2016-07-01

Full Text Available Caroli's disease (CD is a rare congenital abnormality characterized by non-obstructive dilatation of intra hepatic bile ducts, which may be complicated by stone formation, recurrent cholangitis, biliary abscess and higher risk for biliary malignancy. We report a 37-year-old man with recurrent bouts of upper abdominal pain, high grade pyrexia, mild icterus with normal liver function tests who was diagnosed as a case of Caroli's disease. The laboratory studies confirmed Caroli' s disease with a SOL in liver suggestive of liver abscess and the patient received broad spectrum antibiotics with anaerobic and amoebicidal coverage. With 14 days course of antibiotics, he gradually recovered from his symptoms.

Thrombophlebitis of the penile superficial vein, penile mondor's disease: a case report

Energy Technology Data Exchange (ETDEWEB)

Park, Sang Hyun; Kim, Young Hwa; Kim, Doo Sang; Shin, Hyung Chul; Bae, Won Kyung; Kim, Il Young [Soonchunhyang University, Chunan (Korea, Republic of); Kim, Hyun Cheol [Kyung-Hee University, Seoul (Korea, Republic of)

2007-07-15

Mondor's disease is commonly known as thrombophlebitis of the superficial vein in the breast, and this disease occurs rarely in the penis. Despite extensive information about the clinical presentation and course of this disease, imaging findings for this disease are limited. We report gray scale and power Doppler sonographic findings of penile Mondor's disease.

Treatment of periodontal disease in a patient with Ehlers-Danlos syndrome. A case report and literature review.

Science.gov (United States)

Perez, Luis A; Al-Shammari, Khalaf F; Giannobile, William V; Wang, Hom-Lay

2002-05-01

Ehlers-Danlos syndrome (EDS) designates a heterogeneous group of connective tissue disorders characterized by skin elasticity, tissue fragility, and chronic joint pain. Dental findings have been reported with some types of EDS. This case report describes the periodontal findings in a patient with a previously undiagnosed EDS type VIII. Diagnostic aids utilized included microbial testing, histological examination, gingival crevicular fluid (GCF) analysis for the levels of C-telopeptide pyridinoline cross-links (ICTP), and genetic counseling. Periodontal treatment consisted of mechanical debridement and adjunctive antibiotic therapy. Genetic counseling and clinical presentation confirmed the diagnosis of EDS type VIII. Periodontal treatment led to marked clinical improvements and GCF levels of the bone resorptive marker ICTP were significantly reduced. The patient and her siblings are currently pursuing appropriate medical care and genetic counseling. Periodontal involvement may lead to the diagnosis of an underlying systemic condition. Identification of suspected etiological factors of periodontal disease may prove critical for the general well-being of some patients.

Addison's disease as a presentation of metastatic malignant melanoma.

Science.gov (United States)

Srinivasan, B; Patel, M; Ethunandan, M; Ilankovan, V

2016-01-01

Melanoma accounts for 5% of all skin cancers. The risk of metastasis is related to the thickness of the tumour, and can affect local, regional and distant sites. Adrenal metastasis from melanoma of the head and neck is uncommon and often asymptomatic. Addison's disease as a presentation of metastatic melanoma is extremely rare and we are unaware of previous reports in the world literature. We report a case of a patient with metastatic melanoma presenting with signs and symptoms of Addison's disease.

Three-dimensional face shape in Fabry disease

NARCIS (Netherlands)

Cox-Brinkman, Josanne; Vedder, Anouk; Hollak, Carla; Richfield, Linda; Mehta, Atul; Orteu, Kate; Wijburg, Frits; Hammond, Peter

2007-01-01

Facial dysmorphology is an important feature in several lysosomal storage disorders. Although in Fabry disease facial dysmorphism is not a prominent sign, minor facial abnormalities have been previously reported. By analysing three-dimensional images of faces, we quantified facial dysmorphology in a

The impact of national policies on animal disease reporting within selected Pacific Island Countries and Territories (PICTs).

Science.gov (United States)

Tukana, Andrew; Hedlefs, Robert; Gummow, Bruce

2018-04-20

A semi-systematic literature review of national policies was carried out in relation to surveillance and disease reporting in Pacific Island Countries and Territories (PICTs). It also analysed the animal disease reporting structures in Fiji, Papua New Guinea (PNG), Vanuatu and the Solomon Islands. The strengths, weaknesses, opportunities and threats (SWOT) of those reporting structures were examined in relation to how they impacted the detection and management of animal diseases in PICTs. Field missions collected information on animal disease reporting structures and these were discussed in detail with country officials and documented. The findings from the literature review indicated that there is very little policy to support work in surveillance and disease reporting within national government structures of the countries studied. This increases the potential for disease transmission and the introduction of exotic diseases as the efficiency of disease reporting is low. The findings from the SWOT analysis of the reporting structures indicated that there were commonalities across the countries studied, i.e. reporting structures were long with multiple legs that were not functioning properly and this was worsened when positions were vacant in the reporting structure. The hierarchical nature of the reporting structure also reduced reporting efficiency as reports took a longer time to reach decision makers at the top of the structure. High officer turnover and the shortage of veterinarians in the countries studied also affected the efficiency of disease reporting as most in-county officials were inexperienced and could not recognise disease signs and there were no veterinarians to supervise them. Existing reporting structures need to be reviewed to remove duplication and shorten the chain. However, this could override existing command structures and would need to be documented and awareness created with the officers involved. There also needs to be more collaboration

Anemia: monosymptomatic celiac disease. A report of 3 cases

NARCIS (Netherlands)

Depla, A. C.; Bartelsman, J. F.; Mulder, C. J.; Tytgat, G. N.

1990-01-01

Patients with monosymptomatic celiac disease (CD) can escape diagnosis for a long period. Anemia is a common finding in CD, although anemia as the sole symptom is relatively unknown. We report on three patients who presented with iron deficiency anemia and no other symptom, in whom CD was considered

Addison's disease - the difficulty of diagnosis

OpenAIRE

Preto, Clara; Correia, Joana; Pinheiro, Marina; Barroso, Fábio; Leite, Sara; Fernandes, Alexandre; Cardoso, Helena; Borges, Teresa

2018-01-01

Introduction: Primary adrenal insufficiency is a rare disease, especially in pediatric age. Case report: We report the case of a teenager with astenia with four months’ evolution, causing repeated visits to the emergency department during the previous month due gastrointestinal symptoms and a ten kilograms weight loss. In admission the patient had a reasonable general condition, hydrated and without cutaneous hyperpigmentation. Laboratory results showed hyponatremia, increased levels of corti...

Left ventricular asynergy score as an indicator of previous myocardial infarction

International Nuclear Information System (INIS)

Backman, C.; Jacobsson, K.A.; Linderholm, H.; Osterman, G.

1986-01-01

Sixty-eight patients with coronary heart disease (CHD) i.e. a hisotry of angina of effort and/or previous 'possible infarction' were examined inter alia with ECG and cinecardioangiography. A system of scoring was designed which allowed a semiquantitative estimate of the left ventricular asynergy from cinecardioangiography - the left ventricular motion score (LVMS). The LVMS was associated with the presence of a previous myocardial infarction (MI), as indicated by the history and ECG findings. The ECG changes specific for a previous MI were associated with high LVMS values and unspecific or absent ECG changes with low LVMS values. Decision thresholds for ECG changes and asynergy in diagnosing a previous MI were evaluated by means of a ROC analysis. The accuracy of ECG in detecting a previous MI was slightly higher when asynergy indicated a 'true MI' than when autopsy result did so in a comparable group. Therefore the accuracy of asynergy (LVMS ≥ 1) in detecting a previous MI or myocardial fibrosis in patients with CHD should be at least comparable with that of autopsy (scar > 1 cm). (orig.)

Stress thallium-201 myocardial scintigraphy for the detection of individual coronary arterial lesions in patients with and without previous myocardial infarction

International Nuclear Information System (INIS)

Rigo, P.; Bailey, I.K.; Griffith, L.S.; Pitt, B.; Wagner, H.N. Jr.; Becker, L.C.

1981-01-01

The value of stress thallium-201 scintigraphy for detecting individual coronary arterial stenoses was analyzed in 141 patients with angiographically proved coronary artery disease, 101 with and 40 without a previous myocardial infarction. In patients without infarction, the sensitivity for detecting greater than 50 percent narrowing in the left anterior descending, the right and the left circumflex coronary artery was 66, 53 and 24 percent, respectively. In those with a previous infarction, the sensitivity for demonstrating disease in the artery corresponding to the site of infarction was 100 percent for the left anterior descending, 79 percent for the right and 63 percent for the left circumflex coronary artery. In patients with a prior anterior infarction, concomitant right or left circumflex coronary arterial lesions were detected in only 1 of 12 cases, whereas in those with previous inferior or inferolateral infarction, the sensitivity for left anterior descending coronary artery disease was 69 percent. Because of the reasonably high sensitivity for detecting left anterior descending arterial disease, irrespective of the presence and location of previous infarction, myocardial scintigraphy was useful in identifying multivessel disease in patients with a previous inferior infarction. However, because of its relative insensitivity for right or left circumflex coronary artery disease, scintigraphy proved to be a poor predictor of multivessel disease in patients with a prior anterior infarction and in patients without previous myocardial infarction

Madelung's disease: a case report and literature review

International Nuclear Information System (INIS)

Vidal, Maria da Graca Caminha; Londero, Thiza Massaia; Haygert, Carlos Jesus Pereira; Zagoury, Andre Rivas; Carrion, Rodrigo Previdello

2010-01-01

The authors report the case of a patient with Madelung's disease, which is clinically described as the presence of multiple and symmetric non-encapsulated masses of fatty tissue, usually involving the neck and the upper region of the trunk. Computed tomography was selected as the imaging method for diagnosis confirmation, considering its lower cost and higher availability as compared with magnetic resonance imaging. (author)

Surveillance for Lyme Disease - United States, 2008-2015.

Science.gov (United States)

Schwartz, Amy M; Hinckley, Alison F; Mead, Paul S; Hook, Sarah A; Kugeler, Kiersten J

2017-11-10

Lyme disease is the most commonly reported vectorborne disease in the United States but is geographically focal. The majority of Lyme disease cases occur in the Northeast, mid-Atlantic, and upper Midwest regions. Lyme disease can cause varied clinical manifestations, including erythema migrans, arthritis, facial palsy, and carditis. Lyme disease occurs most commonly among children and older adults, with a slight predominance among males. 2008-2015. Lyme disease has been a nationally notifiable condition in the United States since 1991. Possible Lyme disease cases are reported to local and state health departments by clinicians and laboratories. Health department staff conduct case investigations to classify cases according to the national surveillance case definition. Those that qualify as confirmed or probable cases of Lyme disease are reported to CDC through the National Notifiable Diseases Surveillance System. States with an average annual incidence during this reporting period of ≥10 confirmed Lyme disease cases per 100,000 population were classified as high incidence. States that share a border with those states or that are located between areas of high incidence were classified as neighboring states. All other states were classified as low incidence. During 2008-2015, a total of 275,589 cases of Lyme disease were reported to CDC (208,834 confirmed and 66,755 probable). Although most cases continue to be reported from states with high incidence in the Northeast, mid-Atlantic, and upper Midwest regions, case counts in most of these states have remained stable or decreased during the reporting period. In contrast, case counts have increased in states that neighbor those with high incidence. Overall, demographic characteristics associated with confirmed cases were similar to those described previously, with a slight predominance among males and a bimodal age distribution with peaks among young children and older adults. Yet, among the subset of cases reported

Inquilinus limosus in pulmonary disease: case report and review of the literature.

Science.gov (United States)

McHugh, Kelsey E; Rhoads, Daniel D; Wilson, Deborah A; Highland, Kristin B; Richter, Sandra S; Procop, Gary W

2016-12-01

Inquilinus limosus is a slow growing, gram-negative, oxidase-positive, non-fermentative bacillus that is rarely isolated from clinical samples. When clinically identified, I. limosus is almost exclusively isolated from the respiratory tracts of patients with cystic fibrosis (CF). We report the first case of I. limosus isolation from a pulmonary specimen in an individual without a diagnosis of CF. A review of the English-language literature has been made and shows 33 cases (excluding the present report) in which I. limosus was isolated from the respiratory tracts of patients. Our patient, at 60years of age, is more than two decades older than the any previously reported patient. Similar to previous reports, the I. limosus isolated from her lungs demonstrated intrinsic multidrug resistance. The pathogenicity, clinical relevance, and optimal therapeutic management of I. limosus remains largely unknown due to its infrequent recovery from clinical samples. Copyright © 2016 Elsevier Inc. All rights reserved.

Littoral cell angioma of the spleen in a patient with previous pulmonary sarcoidosis: a TNF-α related pathogenesis?

Directory of Open Access Journals (Sweden)

Titze Ulf

2011-09-01

Full Text Available Abstract Background Littoral cell angioma (LCA is a rare vascular tumor of the spleen. Generally thought to be benign, additional cases of LCA with malignant features have been described. Thus, its malignant potential seems to vary and must be considered uncertain. The etiology remains unclear, but an immune dysregulation for the apparent association with malignancies of visceral organs or immune-mediated diseases has been proposed. Case Presentation We report a case of LCA in a 43-year old male patient who presented with a loss of appetite and intermittent upper abdominal pain. Computed tomography showed multiple hypoattenuating splenic lesions which were hyperechogenic on abdominal ultrasound. Lymphoma was presumed and splenectomy was performed. Pathological evaluation revealed LCA. Conclusions LCA is a rare, primary vascular neoplasm of the spleen that might etiologically be associated with immune dysregulation. In addition, it shows a striking association with synchronous or prior malignancies. With about one-third of the reported cases to date being co-existent with malignancies of visceral organs or immune-mediated diseases, this advocates for close follow-ups in all patients diagnosed with LCA. To our knowledge, this report is the first one of LCA associated with previous pulmonary sarcoidosis and hypothesizes a TNF-α related pathogenesis of this splenic tumor.

A rare cause of hematemesis in newborn: fibrocystic breast disease of mother.

Science.gov (United States)

Aksoy, Hatice Tatar; Eras, Zeynep; Erdeve, Omer; Dilmen, Ugur

2013-08-01

Hematemesis in a healthy newborn is most often caused by swallowed maternal blood. Maternal blood due to fibrocystic breast disease in human milk has not previously been reported in the literature. We report here a newborn case with hematemesis in which the mother had fibrocystic breast disease, and we want to emphasize this rare entity. Physicians should be aware of this rare condition, and fibrocystic breast disease of the mother should be included in the differential diagnosis of newborns with hematemesis.

Disease awareness may increase risk of suicide in young onset dementia: A case report

Directory of Open Access Journals (Sweden)

Maria Alice Tourinho Baptista

Full Text Available ABSTRACT Studies report that people with young onset Alzheimer's disease (YOAD have higher levels of disease awareness compared to those with late onset AD. We report a case of a man with YOAD who had preserved awareness of disease, depression and risk of suicide associated with the development of the dementia. Cognitive functioning, disease severity, depressive symptoms and awareness of disease were assessed using validated measures. The person with YOAD showed a moderate level of disease severity and high degree of dependence for activities of daily living. There was recognition of memory problems and routine changes with presence of intense pessimism, low self-esteem and suicidal ideation. This case points to the existence of specific issues related to young onset dementia and the clinical importance of identifying and treating patients who might be aware of their condition.

Accuracy of Veterans Affairs Databases for Diagnoses of Chronic Diseases

OpenAIRE

Singh, Jasvinder A.

2009-01-01

Introduction Epidemiologic studies usually use database diagnoses or patient self-report to identify disease cohorts, but no previous research has examined the extent to which self-report of chronic disease agrees with database diagnoses in a Veterans Affairs (VA) health care setting. Methods All veterans who had a medical care visit from October 1, 1996, through May 31, 1998, at any of the Veterans Integrated Service Network 13 facilities were surveyed about physician diagnosis of chronic ob...

The effects of anticholinergic drugs on regional cerebral blood flow, and oxygen metabolism in previously untreated patients with Parkinson's disease

International Nuclear Information System (INIS)

Obara, Satoko; Takahashi, Satoshi; Yonezawa, Hisashi; Sato, Yoshitomo

1998-01-01

Regional cerebral blood flow (rCBF) and oxygen metabolism (rCMRO 2 ) were measured using the steady-state 15 O technique and positron emission tomography (PET) in six previously untreated patients with Parkinson's disease before and after trihexyphenidyl (THP) treatment. The patients comprised of 4 men and 2 women with Hoehn-Yahr stage II-III. Their ages at the onset of the study ranged from 46 to 57 years (mean±SD, 51.8±3.7) and the duration of the illness ranged from 10 to 48 months (mean±SD, 28.8±15.5). The PET study, assessments of the disability and cognitive function were undergone twice. The first time assessments were done was when the patients were not receiving any drugs, and the second time was one to three months after administration of 6 mg THP. All patients showed clinical improvement after THP treatment. The mean disability score of Unified Parkinson's Disease Rating Scale decreased from 35.1 (SD±11.3) to 25.7 (SD±11.6). The cognitive function assessed by Hasegawa's dementia rating scale-revised, Mini-Mental State Examination, Wechsler Adult Intelligence Scale-Revised, and Wechsler Memory Scale-Revised, were not significantly different before and after the THP treatment. After the THP treatment, rCBF and rCMRO 2 decreased significantly in the striatum (about 15%) and all cerebral cortices (about 10%) on both sides contralateral and ipsilateral to the predominantly symptomatic limbs. We conclude that an anticholinergic THP decreases the rCBF and rCMRO 2 significantly in the cerebral cortices without cognitive impairment in early untreated patients with Parkinson's disease. (author)

First report of mango malformation disease caused by Fusarium pseudocircinatum in Mexico

Science.gov (United States)

Mango (Mangifera indica L.) malformation disease (MMD) is one of the most important diseases affecting this crop worldwide, causing severe economic loss due to reduction of yield. Subsequent to the first report in India in 1891 (3), MMD has spread worldwide to most mango-growing regions. Several spe...

Phase II study of a 3-day schedule with topotecan and cisplatin in patients with previously untreated small cell lung cancer and extensive disease

DEFF Research Database (Denmark)

Sorensen, M.; Lassen, Ulrik Niels; Jensen, Peter Buhl

2008-01-01

INTRODUCTION: Treatment with a topoisomerase I inhibitor in combination with a platinum results in superior or equal survival compared with etoposide-based treatment in extensive disease small cell lung cancer (SCLC). Five-day topotecan is inconvenient and therefore shorter schedules of topotecan...... and cisplatin are needed. The aim of this phase II study was to establish the response rate and response duration in chemo-naive patients with SCLC receiving a 3-day topotecan and cisplatin schedule. METHODS: Simons optimal two-stage design was used. Patients with previously untreated extensive disease SCLC...... age was 59 (range 44-74), 79% had performance status 0 or 1. Thirty-one patients completed all six cycles. Grade 3/4 anemia, neutrocytopenia, and thrombocytopenia were recorded in 9.5%, 66.7%, and 21.4% of patients, respectively. Fourteen percent of patients experienced neutropenic fever. No episodes...

Acute tubulointerstitial nephritis complicating Legionnaires' disease: a case report

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Daumas Aurélie

2012-04-01

Full Text Available Abstract Introduction Legionnaires' disease is recognized as a multi-systemic illness. Afflicted patients may have pulmonary, renal, gastrointestinal tract and central nervous system complications. However, renal insufficiency is uncommon. The spectrum of renal involvement may range from a mild and transient elevation of serum creatinine levels to anuric renal failure requiring dialysis and may be linked to several causes. In our present case report, we would like to draw attention to the importance of the pathological documentation of acute renal failure by reporting a case of a patient with acute tubulointerstitial nephritis complicating Legionnaires' disease. Case presentation A 55-year-old Caucasian man was admitted to our hospital for community-acquired pneumonia complicated by acute renal failure. Legionella pneumophila serogroup type 1 was diagnosed. Although the patient's respiratory illness responded to intravenous erythromycin and ofloxacin therapy, his renal failure worsened, he became anuric, and hemodialysis was started. A renal biopsy was performed, which revealed severe tubulointerstitial nephritis. After initiation of steroid therapy, his renal function improved dramatically. Conclusions This case highlights the importance of kidney biopsies in cases where acute renal failure is a complicating factor in Legionnaires' disease. If the presence of acute tubulointerstitial nephritis can be confirmed, it will likely respond favorably to steroidal treatment and thus irreversible renal damage and chronic renal failure will be avoided.

Cardiovascular diseases

International Nuclear Information System (INIS)

Kodama, Kazunori

1992-01-01

This paper is aimed to discuss the involvement of delayed radiation effects of A-bomb exposure in cardiovascular diseases. First, the relationship between radiation and cardiovascular diseases is reviewed in the literature. Animal experiments have confirmed the relationship between ionizing radiation and vascular lesions. There are many reports which describe ischemic heart disease, cervical and cerebrovascular diseases, and peripheral disease occurring after radiation therapy. The previous A-bomb survivor cohort studies, i.e., the RERF Life Span Study and Adult Health Study, have dealt with the mortality rate from cardiovascular diseases, the prevalence or incidence of cardiovascular diseases, pathological findings, clinical observation of arteriosclerosis, ECG abnormality, blood pressure abnormality, and cardiac function. The following findings have been suggested: (1) A-bomb exposure is likely to be involved in the mortality rate and incidence of ischemic heart disease and cerebrovascular diseases; (2) similarly, the involvement of A-bomb exposure is considered in the prevalence of the arch of aorta; (3) ECG abnormality corresponding to ischemic heart disease may reflect the involvement of A-bomb exposure. To confirm the above findings, further studies are required on the basis of more accurate information and the appropriate number of cohort samples. Little evidence has been presented for the correlation between A-bomb exposure and both rheumatic heart disease and congenital heart disease. (N.K.) 88 refs

Hydatid disease in childhood: revisited report of an interesting case.

Science.gov (United States)

Jairajpuri, Zeeba Shamim; Jetley, Sujata; Hassan, Md Jaseem; Hussain, Musharraf

2012-10-01

Hydatid disease is a zoonosis caused by the tapeworm of Echinococcus spp. The disease is widely endemic in many sheep and cattle rearing locales. However, hydatidosis does not remain restricted to endemic geographical locales anymore but rather is a global health concern. It is a major public health burden causing significant morbidity and mortality. Echinococcus granulosus involvement in children has a different pattern than adults. Children of all age groups are susceptible and localization of the disease in the lungs is more commonly seen. Multiple liver cysts in the paediatric age group is relatively uncommon. We report an interesting case of multiple liver cysts in a 5-year old boy which was diagnosed as hydatid cysts on histopathological examination.

Previous bacterial infection affects textural quality parameters of heat-treated fillets from rainbow trout (Oncorhynchus mykiss)

DEFF Research Database (Denmark)

Ingerslev, Hans-Christian; Hyldig, Grethe; Przybylska, Dominika Alicja

2012-01-01

Sensory quality of fish meat is influenced by many parameters prior to slaughter. In the present study, it was examined if previous infections or damages in the muscle tissue influence product quality parameters in fish. Fillets from rainbow trout (Oncorhynchus mykiss) reared in seawater....... This article was the first to describe a correlation between previous infections in fish and changes in sensory-quality parameters. PRACTICAL APPLICATIONS. This work contributes with knowledge about sensory-quality parameters of fish meat after recovery from infections and physical-tissue damage. Because...... the results demonstrate an influence on the texture from previous disease, the practical potentials of the results are valuable for the aquaculture industry. In order to minimize the effects of previous diseases on the sensory quality regarding the texture, these fishes should be processed as cold...

Connecting the dots: could microbial translocation explain commonly reported symptoms in HIV disease?

Science.gov (United States)

Wilson, Natalie L; Vance, David E; Moneyham, Linda D; Raper, James L; Mugavero, Michael J; Heath, Sonya L; Kempf, Mirjam-Colette

2014-01-01

Microbial translocation within the context of HIV disease has been described as one of the contributing causes of inflammation and disease progression in HIV infection. HIV-associated symptoms have been related to inflammatory markers and sCD14, a surrogate marker for microbial translocation, suggesting a plausible link between microbial translocation and symptom burden in HIV disease. Similar pathophysiological responses and symptoms have been reported in inflammatory bowel disease. We provide a comprehensive review of microbial translocation, HIV-associated symptoms, and symptoms connected with inflammation. We identify studies showing a relationship among inflammatory markers, sCD14, and symptoms reported in HIV disease. A conceptual framework and rationale to investigate the link between microbial translocation and symptoms is presented. The impact of inflammation on symptoms supports recommendations to reduce inflammation as part of HIV symptom management. Research in reducing microbial translocation-induced inflammation is limited, but needed, to further promote positive health outcomes among HIV-infected patients. Published by Elsevier Inc.

Misleading pustular plaques of the lower limbs during Crohn's disease: two case reports

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Farhi David

2007-10-01

Full Text Available Abstract Background Extraintestinal manifestations of Crohn's disease may involve the skin, the eyes, the genital mucosa, and the joints. Dermatoses associated with Crohn's disease include neutrophilic dermatoses, erythema nodosum, granulomatous dermatitis, blistering dermatoses, and non-specific skin manifestations. Cutaneous Crohn's disease is characterized by skin non-caseating epithelioid granulomatas with giant cells, remote from the gastrointestinal tract. We report herein two new cases. Observations On both patients, differential diagnosis of neutrophilic dermatoses and infectious disease were evoked, and antimicrobial agents were introduced in one of them. Given the atypical presentation, the final diagnosis of cutaneous Crohn's disease could only be made with histological examination. In patient 1, the plaques decreased in size and infiltration by more than 75% after 3 weeks of treatment with bethametasone dipropionate 0.05% cream. In patient 2, the plaques decreased by more than 50% after 6 weeks of treatment with prednisolone (45 mg/day and azathioprine (100 mg/day. Discussion Cutaneous Crohn's disease may present as dusky, erythematous, infiltrated, and ulcerated plaques and nodules. Female-to-male sex ratio is about 2, and the mean age at onset is 35. Recurrently, the hypothesis of a skin mycobacterial or fungal infection greatly delays proper treatment. Rarity of cutaneous Crohn's disease hampers therapeutic assessment in controlled trials. Thus, available literature is limited to case reports and sparse small series, with contradictory results. These reports are subject to publication bias, and no definite evidence-based recommendations can be made on the most adequate therapeutic strategy.

Retrieval of radiology reports citing critical findings with disease-specific customization.

Science.gov (United States)

Lacson, Ronilda; Sugarbaker, Nathanael; Prevedello, Luciano M; Ivan, Ip; Mar, Wendy; Andriole, Katherine P; Khorasani, Ramin

2012-01-01

Communication of critical results from diagnostic procedures between caregivers is a Joint Commission national patient safety goal. Evaluating critical result communication often requires manual analysis of voluminous data, especially when reviewing unstructured textual results of radiologic findings. Information retrieval (IR) tools can facilitate this process by enabling automated retrieval of radiology reports that cite critical imaging findings. However, IR tools that have been developed for one disease or imaging modality often need substantial reconfiguration before they can be utilized for another disease entity. THIS PAPER: 1) describes the process of customizing two Natural Language Processing (NLP) and Information Retrieval/Extraction applications - an open-source toolkit, A Nearly New Information Extraction system (ANNIE); and an application developed in-house, Information for Searching Content with an Ontology-Utilizing Toolkit (iSCOUT) - to illustrate the varying levels of customization required for different disease entities and; 2) evaluates each application's performance in identifying and retrieving radiology reports citing critical imaging findings for three distinct diseases, pulmonary nodule, pneumothorax, and pulmonary embolus. Both applications can be utilized for retrieval. iSCOUT and ANNIE had precision values between 0.90-0.98 and recall values between 0.79 and 0.94. ANNIE had consistently higher precision but required more customization. Understanding the customizations involved in utilizing NLP applications for various diseases will enable users to select the most suitable tool for specific tasks.

Metastatic papillary carcinoma of the thyroid in a patient previously ...

African Journals Online (AJOL)

Incidental papillary carcinoma of the thyroid in patients treated surgically for benign thyroid diseases including Graves' disease is a known phenomenon. However, the management of these patients remains an issue of concern and controversy for those who care for them. We report a case of metastatic paillary carcinoma of ...

Basal Cell Carcinoma in Type 2 Segmental Dariers Disease

International Nuclear Information System (INIS)

Robertson, L.; Sauder, M. B.

2012-01-01

Dariers disease (DD), also known as Keratosis Follicularis or Dariers-White disease, is a rare disorder of keratinisation. DD can present as a generalized autosomal dominant condition as well as a localized or segmental post zygotic condition (Vasquez et al., 2002). Clinical features of DD include greasy, warty papules and plaques on seborrhoeic areas, dystrophic nails, palmo-plantar pits, and papules on the dorsum of the hands and feet. Objective. We report a case of basal cell carcinoma developing in a patient with type 2 segmental DD. Conclusion. According to the current literature, Type 2 segmental disease is a rare presentation of Dariers disease with only 8 previous cases reported to date. In addition, non melanoma skin cancer (NMSC) arising from DD is rarely reported; however, there may be an association between DD and risk of carcinogenesis.

Basal Cell Carcinoma in Type 2 Segmental Darier's Disease

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Lynne Robertson

2012-01-01

Full Text Available Background. Darier's disease (DD, also known as Keratosis Follicularis or Darier-White disease, is a rare disorder of keratinization. DD can present as a generalized autosomal dominant condition as well as a localized or segmental postzygotic condition (Vázquez et al., 2002. Clinical features of DD include greasy, warty papules and plaques on seborrheic areas, dystrophic nails, palmo-plantar pits, and papules on the dorsum of the hands and feet. Objective. We report a case of basal cell carcinoma developing in a patient with type 2 segmental DD. Conclusion. According to the current literature, Type 2 segmental disease is a rare presentation of Darier's disease with only 8 previous cases reported to date. In addition, nonmelanoma skin cancer (NMSC arising from DD is rarely reported; however, there may be an association between DD and risk of carcinogenesis.

A Case Report of Cushing's Disease Presenting as Hair Loss.

Science.gov (United States)

Lefkowitz, Emily G; Cossman, Jack P; Fournier, John B

2017-01-01

Cushing's syndrome is a rare endocrine disorder that comprises a large group of signs and symptoms resulting from chronic exposure to excess corticosteroids. Most cases of Cushing's syndrome are due to increased adrenocorticotropic hormone production from a pituitary adenoma, which is referred to as Cushing's disease. Most of the signs and symptoms are nonspecific and common in the general population, making a diagnosis often challenging. However, several dermatological manifestations, such as fragile skin, easy bruising, and reddish purple striae, are more discriminatory. Because uncontrolled Cushing's syndrome of any etiology is associated with substantial morbidity, including increased cardiovascular disease and mortality, it is important to make an early diagnosis. Unfortunately, median delays of 2 years to diagnosis have been reported. We report a case of a woman who had multiple dermatological findings, including facial plethora, easy bruising, violaceous striae, hirsutism, and acne, the latter 2 signs reflecting androgen excess. Of interest, our patient presented with a chief complaint of hair loss, a common complaint in the general population that occurs with a greater frequency in patients with Cushing's disease and is attributed to androgenetic alopecia, but it is rarely the presenting symptom.

Report of a case of Hodgkin's nodular sclerosis disease

International Nuclear Information System (INIS)

Canizares, Claudio; Araujo, Ivan; Flores, Marlon; Guerrero, Patricia; Sanchez, Mayra

2004-01-01

We report a case of Hodgkin's nodular sclerosis disease that presents moderate anemia and lymph node enlargement with a massive infiltrate to the bone marrow. It is rare for these patients to develop such an infiltrate, which give a bad prognosis. The treatment recommended in stage I is Radiotherapy and chemotherapy. (The author)

Septated pericarditis associated with Kawasaki disease: a brief case report.

Science.gov (United States)

Sonçaği, Arzu; Devrim, Ilker; Karagöz, Tevfik; Dilber, Embiya; Celiker, Alpay; Ozen, Seza; Seçmeer, Gülten

2007-01-01

Kawasaki disease (KD) is primarily the systemic vasculitis of childhood that affects mainly the medium-sized arteries, such as the coronary arteries. KD is the leading cause of acquired heart disease, whereas the incidence of rheumatic fever has declined. The most serious complication is coronary artery involvement. Among the children with KD who developed cardiac complications, pericarditis is a rare complication, with an incidence of 0.07%. We report our experience in a 5.5-year-old child with KD complicated with aneurysm of the left anterior descendant coronary artery and septated pericardial effusion, which has not been reported in the literature. The pericardial effusion disappeared very dramatically with intravenous immunoglobulin (IVIG) therapy. We would like to point out that septated pericardial effusion in cases of KD do not need any further therapy other than IVIG and high-dose acetylsalicylic acid.

Discordance Between Physician Assessment and Patient-Reported Depressive Symptoms in Parkinson Disease.

Science.gov (United States)

Lachner, Christian; Armstrong, Melissa J; Gruber-Baldini, Ann L; Rezvani, Zahra; Reich, Stephen G; Fishman, Paul S; Salazar, Richard; Shulman, Lisa M

2017-07-01

To assess concordance between physician assessment and patient-reported symptoms when screening for depression in Parkinson disease (dPD). Depression in Parkinson disease is highly prevalent (∼40%) and has a significant impact on quality of life and disability, yet physician recognition and treatment remain inadequate. One thousand seventy-six patients with PD completed the Brief Symptom Inventory-18 (BSI-18), a screening questionnaire for psychiatric symptoms, which was compared to item #3 (depression) on the Unified Parkinson's Disease Rating Scale (UPDRS). The mean BSI-18 depression score was 51.4 (9.7). Of the 170 (16%) patients screening positive for dPD on the BSI-18, 104 (61%) were not recognized as depressed by neurologists on the UPDRS. Factors associated with lower neurologist recognition included male gender, better mental health quality of life, and lack of antidepressant use. More than 60% of patients screening positive for depression on self-report were not recognized by neurologists on the UPDRS. A patient-reported screening tool for depression may improve recognition and management of dPD.

Pompe disease: A case report

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Abdullah Çim

2015-12-01

Full Text Available Pompe disease is inherited in an autosomal recessive manner, and is usually observed in the children of asymptomatic carriers. Pompe disease, known as Glycogen Storage Disorder type II, is caused by pathogenic mutations in the gene encoding lysosomal acid alpha-glucosidase (GAA. There are three types of Pompe disease: classical infantile form, non-classical infantile form and late-onset Pompe disease. Age of onset and severity of the disease determine the type of Pompe disease. We aimed to identify a mutation in GAA gene in parents who were first cousins and their baby girl was passed away due to the Pompe disease. The baby girl had reduced acid alpha-glucosidase activity, but genetic analysis had not been performed. Mutation analysis of parents was performed using high-throughput DNA sequencing method. Heterozygous mutation of c.896 T>C in exon 5 was found in parents, and prenatal diagnosis was performed for their next pregnancy. In conclusion, c.896 T>C substitution in GAA gene may lead to the severe type of Pompe disease. Using a relatively fast and reliable molecular genetic analysis method to confirm the early diagnosis of the Pompe disease is important for the management of the disease.

An official American Thoracic Society workshop report: stem cells and cell therapies in lung biology and diseases.

Science.gov (United States)

Weiss, Daniel J; Chambers, Daniel; Giangreco, Adam; Keating, Armand; Kotton, Darrell; Lelkes, Peter I; Wagner, Darcy E; Prockop, Darwin J

2015-04-01

The University of Vermont College of Medicine and the Vermont Lung Center, in collaboration with the NHLBI, Alpha-1 Foundation, American Thoracic Society, European Respiratory Society, International Society for Cell Therapy, and the Pulmonary Fibrosis Foundation, convened a workshop, "Stem Cells and Cell Therapies in Lung Biology and Lung Diseases," held July 29 to August 1, 2013 at the University of Vermont. The conference objectives were to review the current understanding of the role of stem and progenitor cells in lung repair after injury and to review the current status of cell therapy and ex vivo bioengineering approaches for lung diseases. These are all rapidly expanding areas of study that both provide further insight into and challenge traditional views of mechanisms of lung repair after injury and pathogenesis of several lung diseases. The goals of the conference were to summarize the current state of the field, discuss and debate current controversies, and identify future research directions and opportunities for both basic and translational research in cell-based therapies for lung diseases. This conference was a follow-up to four previous biennial conferences held at the University of Vermont in 2005, 2007, 2009, and 2011. Each of those conferences, also sponsored by the National Institutes of Health, American Thoracic Society, and Respiratory Disease Foundations, has been important in helping guide research and funding priorities. The major conference recommendations are summarized at the end of the report and highlight both the significant progress and major challenges in these rapidly progressing fields.

Process cells dismantling of EUREX pant: previous activities

International Nuclear Information System (INIS)

Gili, M.

1998-01-01

In the '98-'99 period some process cells of the EUREX pant will be dismantled, in order to place there the liquid wastes conditioning plant 'CORA'. This report resumes the previous activities (plant rinsing campaigns and inactive Cell 014 dismantling), run in the past three years and the drawn experience [it

Under-reporting of notifiable infectious disease hospitalizations in a health board region in Ireland: room for improvement?

LENUS (Irish Health Repository)

Brabazon, E D

2008-02-01

Rapid notification of infectious diseases is essential for prompt public health action and for monitoring of these diseases in the Irish population at both a local and national level. Anecdotal evidence suggests, however, that the occurrence of notifiable infectious diseases is seriously underestimated. This study aims to assess the level of hospitalization for notifiable infectious diseases for a 6-year period in one health board region in Ireland and to assess whether or not there was any under-reporting during this period. All hospital in-patient admissions from 1997 to 2002 inclusive with a principal diagnosis relating to \\'infectious and parasitic diseases\\' (ICD codes 001-139) of residents from a health board region in Ireland were extracted from the Hospital In-Patient Enquiry System (HIPE). All notifiable infectious diseases were identified based on the 1981 Irish Infectious Disease Regulations and the data were analysed in the statistical package, JMP. These data were compared with the corresponding notification data. Analysis of the hospital in-patient admission data revealed a substantial burden associated with notifiable infectious diseases in this health board region: there were 2758 hospitalizations by 2454 residents, 17,034 bed days and 33 deaths. The statutory notification data comprises both general practitioner and hospital clinician reports of infectious disease. Therefore, only in cases where there are more hospitalizations than notifications can under-reporting be demonstrated. This occurred in nine out of 22 notifiable diseases and amounted to an additional 18% of notifications (or 572 cases) which were \\'missed\\' due to hospital clinician under-reporting. The majority of these under-reported cases were for viral meningitis (45%), infectious mononucleosis (27%), viral hepatitis C unspecified (15%) and acute encephalitis (5.8%). This study has highlighted the extent of under-reporting of hospitalized notifiable infectious diseases, in a

Errors in self-reports of health services use: impact on alzheimer disease clinical trial designs.

Science.gov (United States)

Callahan, Christopher M; Tu, Wanzhu; Stump, Timothy E; Clark, Daniel O; Unroe, Kathleen T; Hendrie, Hugh C

2015-01-01

Most Alzheimer disease clinical trials that compare the use of health services rely on reports of caregivers. The goal of this study was to assess the accuracy of self-reports among older adults with Alzheimer disease and their caregiver proxy respondents. This issue is particularly relevant to Alzheimer disease clinical trials because inaccuracy can lead both to loss of power and increased bias in study outcomes. We compared respondent accuracy in reporting any use and in reporting the frequency of use with actual utilization data as documented in a comprehensive database. We next simulated the impact of underreporting and overreporting on sample size estimates and treatment effect bias for clinical trials comparing utilization between experimental groups. Respondents self-reports have a poor level of accuracy with κ-values often below 0.5. Respondents tend to underreport use even for rare events such as hospitalizations and nursing home stays. In analyses simulating underreporting and overreporting of varying magnitude, we found that errors in self-reports can increase the required sample size by 15% to 30%. In addition, bias in the reported treatment effect ranged from 3% to 18% due to both underreporting and overreporting errors. Use of self-report data in clinical trials of Alzheimer disease treatments may inflate sample size needs. Even when adequate power is achieved by increasing sample size, reporting errors can result in a biased estimate of the true effect size of the intervention.

[Fatal amnioinfusion with previous choriocarcinoma in a parturient woman].

Science.gov (United States)

Hrgović, Z; Bukovic, D; Mrcela, M; Hrgović, I; Siebzehnrübl, E; Karelovic, D

2004-04-01

The case of 36-year-old tercipare is described who developed choriocharcinoma in a previous pregnancy. During the first term labour the patient developed cardiac arrest, so reanimation and sectio cesarea was performed. A male new-born was delivered in good condition, but even after intensive therapy and reanimation occurred death of parturient woman with picture of disseminate intravascular coagulopathia (DIK). On autopsy and on histology there was no sign of malignant disease, so it was not possible to connect previous choricarcinoma with amniotic fluid embolism. Maybe was place of choriocarcinoma "locus minoris resistentiae" which later resulted with failure in placentation what was hard to prove. On autopsy we found embolia of lung with a microthrombosis of terminal circulation with punctiformis bleeding in mucous, what stands for DIK.

Case report of Graves’ disease manifesting with odynophagia and heartburn

Science.gov (United States)

Evsyutina, Yulia; Trukhmanov, Alexander; Ivashkin, Vladimir; Storonova, Olga; Godjello, Elina

2015-01-01

Graves’ disease is an autoimmune disease, which can manifest with a variety of extrathyroidal clinical syndromes like ophthalmopathy, pretibial myxedema (dermopathy), acropathy, cardiomyopathy, and encephalopathy. Though quite rare, this disease can also manifest with gastrointestinal symptoms such as dysphagia, heartburn, nausea, vomiting and diarrhea. We report a clinical case of Graves’ disease manifesting with dysfunction of the esophagus and heartburn in a 61-year-old man. In the muscular layer of the esophagus we found dystrophic changes led to its atony, which was documented by endoscopy and high-resolution manometry. The pathology features of esophageal symptoms were: focal proliferation of the basal cells, vascular distension, and dystrophy of the epithelial cells. Antithyroid treatment led to decrease of all clinical symptoms after 5 d of Thiamazole administration. Complete restoration of peristalsis in the esophagus, according to manometry, was observed in 1 mo after initiation of treatment. PMID:26730171

Case report of Graves' disease manifesting with odynophagia and heartburn.

Science.gov (United States)

Evsyutina, Yulia; Trukhmanov, Alexander; Ivashkin, Vladimir; Storonova, Olga; Godjello, Elina

2015-12-28

Graves' disease is an autoimmune disease, which can manifest with a variety of extrathyroidal clinical syndromes like ophthalmopathy, pretibial myxedema (dermopathy), acropathy, cardiomyopathy, and encephalopathy. Though quite rare, this disease can also manifest with gastrointestinal symptoms such as dysphagia, heartburn, nausea, vomiting and diarrhea. We report a clinical case of Graves' disease manifesting with dysfunction of the esophagus and heartburn in a 61-year-old man. In the muscular layer of the esophagus we found dystrophic changes led to its atony, which was documented by endoscopy and high-resolution manometry. The pathology features of esophageal symptoms were: focal proliferation of the basal cells, vascular distension, and dystrophy of the epithelial cells. Antithyroid treatment led to decrease of all clinical symptoms after 5 d of Thiamazole administration. Complete restoration of peristalsis in the esophagus, according to manometry, was observed in 1 mo after initiation of treatment.

Case Reports of Cat Scratch Disease with Typical and Atypical Clinical Manifestations: A Literature Review

Directory of Open Access Journals (Sweden)

Gulshan Umbreen

2017-04-01

Full Text Available Cat scratch disease (CSD is the most well-known zoonotic disease spread by domestic animals like cats. Cats are the source of Bartonella henselae. Most patients more than ninety percent 3-12 days after a scratch from a cat, undoubtedly a little cat with insects present with one or more erythematous injuries at the site of inoculation, the sore is typically a crusted papule or, once in a while, a pustule. More than half of cases in one study show that the systemic indications went with the lymphadenopathy. These may incorporate fever, discomfort, migraine and anorexia and frequently happen in immunocompromised patients. Atypically clinical manifestations happen are altered mental status, perplexity, prolonged fever, respiratory protestations (atypical pneumonitis, Joint pain, synovitis, Back agony is uncommon. The hypothesis of the study to find out that cat scratch disease cause typical and atypical clinical manifestation. Study was conducted July 2015 to September 2015. The methodology sections of a review article are listed all of the databases and citation indexes that were searched such as Web of Science and PubMed and any individual journals that were searched. Various case reports were mentioned in the study. Case reports of cat scratch diseases with typical and atypical clinical manifestation included in the study. The objective of review of these reporting cases is to make physicians aware about cat scratch diseases and also need to create awareness about cat scratch disease in pet owner. Although it is self-limiting needs to report to health authorities. There are few cases reported in which mostly cases reported in twain, japan, Brazil, Texas, United States, Dhaka, Spain with typical and atypical clinical manifestation

Clinical presentation of acute coronary syndrome in patients previously treated with nitrates.

Science.gov (United States)

Latour-Pérez, Jaime; Gómez-Tello, Vicente; Fuset-Cabanes, María Paz; Balsa, Eva de Miguel; Sáez, Frutos Del Nogal; Orts, Francisco Javier Coves; Rodríguez, Carmen Martín; Pino-Izquierdo, Karel; Pesquera, María de la Concepción Pavía; Rodríguez, Antonio José Montón

2013-11-01

Several reports have suggested that nitrates limit acute ischaemic damage by a mechanism similar to preconditioning. This study aims to evaluate the effect of chronic oral nitrates on the clinical presentation and short-term outcomes of patients admitted with acute coronary syndrome (ACS). A retrospective cohort study was conducted in patients with ACS admitted to 62 acute care units from 2010 to 2011. A propensity score-matched samples analysis was performed. We analysed 3171 consecutive patients, of whom 298 (9.4%) were chronically treated with nitrates. Patients previously treated with nitrates had higher comorbidity and disease severity at admission, lower prevalence of ACS with ST elevation, lower troponin elevation, higher prevalence of initial Killip class 2-4 and higher hospital mortality. The propensity score-matched analysis confirmed that previous use of nitrates is independently associated with a lower prevalence of ST-elevation ACS [odds ratio (OR) 0.53, 95% confidence interval (CI) 0.36-0.78; P = 0.0014] and a lower troponin elevation (OR 0.61, 95% CI 0.41-0.92) but not with Killip class on admission (OR 1.18, 95% CI 0.83-1.67, P = 0.3697) or mortality (OR 0.71, 95% CI 0.37-1.38, P = 0.3196). The results support the hypothesis that nitrates have a protective effect on acute ischaemic injury.

Canine Degenerative Valve Disease: A Case Report

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Carmenza Janneth Benavides Melo

2014-07-01

Full Text Available Degenerative valvular disease or endocardiosis is the most common cardiovascular pathology in dogs. It is characterized by regurgitation of blood into the atria with decreased cardiac output, leading to volume overload with eccentric hypertrophy and congestive heart failure. This report describes the clinical and autopsy findings of a dog, suggestive of valvular endocardiosis. The patient was admitted to the outpatient Veterinary Clinic “Carlos Martínez Hoyos” at the University of Nariño (Pasto, Colombia. His owner said the dog was sick for two months, with signs of respiratory disease, weight loss, and decay. Clinical examination showed very pale mucous membranes, inspiratory dyspnea, rale, split S2, grade 4 mid-systolic murmur of regurgitation, and abdominal dilatation with sign of positive shock wave. Necropsy evidenced plenty of translucent watery material in the abdominal, chest and pericardium cavity, severely enlarged and rounded heart with thickened atrioventricular valves, moderate reduction in liver size and signs of lobulation, severely diminished and pale kidneys with irregular surface showing the presence of multiple cystic areas in corticomedullary region. Samples were taken from these tissues and fixed in 10% buffered formalin to be processed for histopathological analysis at the Laboratory of Pathology at the University of Nariño, using hematoxylin and eosin stain. This way, degenerative valvular disease was diagnosed.

Previously unidentified changes in renal cell carcinoma gene expression identified by parametric analysis of microarray data

International Nuclear Information System (INIS)

Lenburg, Marc E; Liou, Louis S; Gerry, Norman P; Frampton, Garrett M; Cohen, Herbert T; Christman, Michael F

2003-01-01

Renal cell carcinoma is a common malignancy that often presents as a metastatic-disease for which there are no effective treatments. To gain insights into the mechanism of renal cell carcinogenesis, a number of genome-wide expression profiling studies have been performed. Surprisingly, there is very poor agreement among these studies as to which genes are differentially regulated. To better understand this lack of agreement we profiled renal cell tumor gene expression using genome-wide microarrays (45,000 probe sets) and compare our analysis to previous microarray studies. We hybridized total RNA isolated from renal cell tumors and adjacent normal tissue to Affymetrix U133A and U133B arrays. We removed samples with technical defects and removed probesets that failed to exhibit sequence-specific hybridization in any of the samples. We detected differential gene expression in the resulting dataset with parametric methods and identified keywords that are overrepresented in the differentially expressed genes with the Fisher-exact test. We identify 1,234 genes that are more than three-fold changed in renal tumors by t-test, 800 of which have not been previously reported to be altered in renal cell tumors. Of the only 37 genes that have been identified as being differentially expressed in three or more of five previous microarray studies of renal tumor gene expression, our analysis finds 33 of these genes (89%). A key to the sensitivity and power of our analysis is filtering out defective samples and genes that are not reliably detected. The widespread use of sample-wise voting schemes for detecting differential expression that do not control for false positives likely account for the poor overlap among previous studies. Among the many genes we identified using parametric methods that were not previously reported as being differentially expressed in renal cell tumors are several oncogenes and tumor suppressor genes that likely play important roles in renal cell

A Novel Patient-Derived Conceptual Model of the Impact of Celiac Disease in Adults: Implications for Patient-Reported Outcome and Health-Related Quality-of-Life Instrument Development.

Science.gov (United States)

Leffler, Daniel A; Acaster, Sarah; Gallop, Katy; Dennis, Melinda; Kelly, Ciarán P; Adelman, Daniel C

2017-04-01

Celiac disease is a chronic inflammatory condition with wide ranging effects on individual's lives caused by a combination of symptoms and the burden of adhering to a gluten-free diet (GFD). To further understand patients' experience of celiac disease, the impact it has on health-related quality of life (HRQOL), and to develop a conceptual model describing this impact. Adults with celiac disease on a GFD reporting symptoms within the previous 3 months were included; patients with refractory celiac disease and confounding medical conditions were excluded. A semistructured discussion guide was developed exploring celiac disease symptoms and impact on patients' HRQOL. An experienced interviewer conducted in-depth interviews. The data set was coded and analyzed using thematic analysis to identify concepts, themes, and the inter-relationships between them. Data saturation was monitored and concepts identified formed the basis of the conceptual model. Twenty-one participants were recruited, and 32 distinct gluten-related symptoms were reported and data saturation was reached. Analysis identified several themes impacting patients' HRQOL: fears and anxiety, day-to-day management of celiac disease, physical functioning, sleep, daily activities, social activities, emotional functioning, and relationships. The conceptual model highlights the main areas of impact and the relationships between concepts. Both symptoms and maintaining a GFD have a substantial impact on patient functioning and HRQOL in adults with celiac disease. The conceptual model derived from these data may help to design future patient-reported outcomes as well as interventions to improve the quality of life in an individual with celiac disease. Copyright © 2017 International Society for Pharmacoeconomics and Outcomes Research (ISPOR). Published by Elsevier Inc. All rights reserved.

Hyperosmia in Lyme disease

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Basant K. Puri

2014-08-01

Full Text Available Neurological involvement in Lyme disease has been reported to include meningitis, cranial neuropathy and radiculoneuritis. While it is known that in some cases of asceptic meningitis patients may develop hyperosmia, the association between hyperosmia and Lyme disease has not previously been studied. Objective To carry out the first systematic study to ascertain whether hyperosmia is also a feature of Lyme disease. Method A questionnaire regarding abnormal sensory sensitivity in respect of the sense of smell was administered to 16 serologically positive Lyme disease patients and to 18 control subjects. Results The two groups were matched in respect of age, sex and body mass. None of the 34 subjects was suffering from migraine. Eight (50% of the Lyme patients and none (0% of the controls suffered from hyperosmia (p=0.0007. Conclusion This first systematic controlled study showed that Lyme disease is associated with hyperosmia.

Cochlear Implants and Psychiatric Assessments: a Norrie Disease Case Report.

Science.gov (United States)

Jacques, Denis; Dubois, Thomas; Zdanowicz, Nicolas; Gilain, Chantal; Garin, Pierre

2017-09-01

It is important to perform psychiatric assessments of adult patients who are candidates for cochlear implants both to screen them for psychiatric disorders and to assess their understanding and compliance with the procedure. Deafness is a factor of difficulty for conducting in-depth psychiatric interviews, but concomitant blindness may make it impossible. After a description of Norrie disease, a rare disease in which blindness and deafness may occur together, we propose a case report of a patient suffering from the disease and who consulted in view of a cochlear implant. Early information on cochlear implants appears to be necessary before total deafness occurs in patients suffering from Norrie disease. An inventory of digital communication tools that can be used by the patient is also highly valuable. Research should be supported for a more systematic use of psychiatric assessments prior to cochlear implants. In the special case of Norrie disease, we recommend early screening for mental retardation and related psychotic disorders and, depending on the patient's level of understanding, preventive information on the benefits and limits of cochlear implants before total deafness occurs.

Progressive myoclonic epilepsy type 1: Report of an Emirati family and literature review

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Mohammed Saadah

2014-01-01

Conclusions: This is the first to report a family with EPM1 in UAE. Our study emphasized a particular phenotype expressed as earlier disease onset, severe myoclonus, and generalized seizures. Cognitive, cerebellar, motor, and autonomic dysfunctions and brain atrophy were also earlier at onset and more severe than previously reported. Recurrent viral infections are another unique feature. This constellation in tout à fait was not previously reported in the literature.

Leflunomide-Induced Interstitial Lung Disease: A Case Report

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Aygül Güzel

2015-04-01

Full Text Available Leflunomide (LEF induced interstitial pneumonitis is a very rare condition but potentially fatal. We report a case of LEF induced interstitial pneumonitis. A 63-year-old woman followed-up for 37 years with the diagnosis of rheumatoid arthritis treated with LEF (20 mg/day since 5 months were admitted to our hospital with cough, dyspnea, fever, and dark sputum.Chest radiography represented bilateral alveolar consolidation. High-resolution computed tomography demonstrated diffuse ground-glass appearance and interlobular septal thickening. Since the patient’s clinics and radiologic findings improved dramatically after the cessation of LEF and recieving oral steriod therapy, she was diagnosed as drug-induced interstitial lung disease. In conclusion, when nonspecific clinical signs such as respiratory distress, cough and fever seen during the use of LEF, drug-induced interstitial lung disease should be kept in mind for the differantial diagnosis.

High rates of respiratory symptoms and airway disease in mental health inpatients in a tertiary centre.

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Burke, Andrew J; Hay, Karen; Chadwick, Alex; Siskind, Dan; Sheridan, Judith

2018-04-01

People with severe mental illness (SMI) have a lower life expectancy due in part to a higher prevalence of cardiac and metabolic disease. Less is known of the prevalence of respiratory disease in this group. This cross-sectional, observational study aimed to assess the prevalence of symptoms associated with respiratory disease in patients admitted to an inpatient mental health unit. A convenience sample of 82 inpatients had a structured interview and questionnaire completed. The questionnaire included self-reported diagnoses of common diseases and screening questions designed to detect respiratory disease and sleep disordered breathing. Targeted spirometry was performed on the basis of symptoms and smoking status. Patients reported high rates of respiratory symptoms, including wheezing (38%) and dyspnoea (44%); 52% of patients reported daily tobacco use. Productive cough was significantly associated with tobacco use (P disease (COPD) of whom six did not have a formal diagnosis of COPD previously. People with SMI have high rates of respiratory symptoms with a high prevalence of COPD on spirometry. Half of the COPD cases were not previously diagnosed, suggesting a hidden burden of respiratory disease in patients with SMI. © 2017 Royal Australasian College of Physicians.

Previous exercise training has a beneficial effect on renal and cardiovascular function in a model of diabetes.

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Kleiton Augusto dos Santos Silva

Full Text Available Exercise training (ET is an important intervention for chronic diseases such as diabetes mellitus (DM. However, it is not known whether previous exercise training intervention alters the physiological and medical complications of these diseases. We investigated the effects of previous ET on the progression of renal disease and cardiovascular autonomic control in rats with streptozotocin (STZ-induced DM. Male Wistar rats were divided into five groups. All groups were followed for 15 weeks. Trained control and trained diabetic rats underwent 10 weeks of exercise training, whereas previously trained diabetic rats underwent 14 weeks of exercise training. Renal function, proteinuria, renal sympathetic nerve activity (RSNA and the echocardiographic parameters autonomic modulation and baroreflex sensitivity (BRS were evaluated. In the previously trained group, the urinary albumin/creatinine ratio was reduced compared with the sedentary diabetic and trained diabetic groups (p<0.05. Additionally, RSNA was normalized in the trained diabetic and previously trained diabetic animals (p<0.05. The ejection fraction was increased in the previously trained diabetic animals compared with the diabetic and trained diabetic groups (p<0.05, and the myocardial performance index was improved in the previously trained diabetic group compared with the diabetic and trained diabetic groups (p<0.05. In addition, the previously trained rats had improved heart rate variability and BRS in the tachycardic response and bradycardic response in relation to the diabetic group (p<0.05. This study demonstrates that previous ET improves the functional damage that affects DM. Additionally, our findings suggest that the development of renal and cardiac dysfunction can be minimized by 4 weeks of ET before the induction of DM by STZ.

Familial benign chronic neutropenia associated with periodontal disease. A case report.

Science.gov (United States)

Deasy, M J; Vogel, R I; Macedo-Sobrinho, B; Gertzman, G; Simon, B

1980-04-01

A rare case report of periodontal disease associated with familial benign chronic neutropenia is presented. The medical, dental and family histories as well as clinical and histologic observations are described and discussed.

A case report: mixed thrombus formation in a previously sutured right atrium.

Science.gov (United States)

Yunfei, Ling; Dongxu, Li; Shuhua, Luo; Yabo, Wang; San, Deep; Changping, Gan; Ke, Lin; Qi, An

2014-08-01

We describe the case of a 19-year-old Chinese woman who nine months prior underwent repair of an atrial septal defect and came to our hospital with a right atrial mass attached to the anterior wall of the right atrium on transthoracic echocardiography. Pathologic examination revealed the mass was a mixed-type thrombosis with some unusual organization, which previously was not described in literature.

Late-onset Pompe disease with complicated intracranial aneurysm: a Chinese case report

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Zhang B

2016-03-01

Full Text Available Bin Zhang,1,2,* Yuying Zhao,1,3,* Junling Liu,1,4 Ling Li,1 Jingli Shan,1 Dandan Zhao,1 Chuanzhu Yan1,3 1Laboratory of Neuromuscular Disorders and Department of Neurology, Qilu Hospital of Shandong University, Jinan, Shandong, 2Department of Neurology, Liaocheng People’s Hospital, Liaocheng, Shandong, 3Department of Neurology, Qilu Hospital of Shandong University, Key Laboratory for Experimental Teratology of the Ministry of Education, Brain Science Research Institute, Shandong University, Jinan, Shandong, 4Department of Neurology, Affiliated Hospital of Weifang Medical University, Weifang, Shandong, People’s Republic of China *These authors contributed equally to this work Abstract: Pompe disease is a rare autosomal recessive hereditary disease caused by genetic defects of acid maltase. This disease could be divided into two forms: infantile and late-onset, which mainly affect cardiac, respiratory, and skeletal muscle systems. Late-onset patients mainly show symptoms of skeletal muscle involvement, but recent reports have found that the central nervous system was also affected in some patients. Herein, we report a case of a female, adolescent-onset Pompe patient, who was diagnosed with complicated intracranial aneurysm in adulthood. Keywords: Pompe disease, glycogen storage disease II, acid maltase, acid alpha-glucosidase, cerebrovascular disorders

Imaging Manifestations in Systemic Cat Scratch Disease: Case report

International Nuclear Information System (INIS)

Forero M, Julian F; Perez A, Maria C; Cerquera C, Fredy M

2011-01-01

Cat scratch disease is a zoonosis caused by Bartonella henselae, which is transmitted by scratches, bites or exposition to cats saliva (1). The disease typically manifests with local lymphadenitis after bacterial inoculation in the skin, however, there is an atypical systemic presentation in 5 to 10% of patients, which causes unspecific symptoms. There are several imaging findings that lead the radiologist to consider this diagnosis, in order to prevent an invasive procedure, especially if we consider that the majority of cases occur in the pediatric population (2,3). Although in the majority of cases the symptoms and imaging findings resolve spontaneously, there are specific indications like the systemic form of the disease,which requires antibiotic treatment. In the present article we are exposing a case report from Fundacion Cardioinfantil; we will review some epidemiologic aspects, clinical manifestations, diagnostic methods as well as imaging findings in Ultrasonography, Computed Tomography, Magnetic Resonance and Nuclear Medicine.

Imaging Manifestations in Systemic Cat Scratch Disease: Case report

International Nuclear Information System (INIS)

Forero Melo, Julian Francisco; Perez Alvarado, Maria Carolina; Cerquera Cabrera, Fredy Martin

2011-01-01

Cat scratch disease is a zoonosis caused by Bartonella henselae, which is transmitted by scratches, bites or exposition to cats saliva (1). The disease typically manifests with local lymphadenitis after bacterial inoculation in the skin, however, there is an atypical systemic presentation in 5 to 10% of patients, which causes unspecific symptoms. There are several imaging findings that lead the radiologist to consider this diagnosis, in order to prevent an invasive procedure, especially if we consider that the majority of cases occur in the pediatric population (2,3). Although in the majority of cases the symptoms and imaging findings resolve spontaneously, there are specific indications like the systemic form of the disease, which requires antibiotic treatment. In the present article we are exposing a case report from Fundacion Cardio infantil; we will review some epidemiologic aspects, clinical manifestations, diagnostic methods as well as imaging findings in Ultrasonography, Computed Tomography, Magnetic Resonance and Nuclear Medicine.

Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome or Fowler syndrome: Report of a family and insight into the disease's mechanism.

Science.gov (United States)

Radio, Francesca Clementina; Di Meglio, Lavinia; Agolini, Emanuele; Bellacchio, Emanuele; Rinelli, Martina; Toscano, Paolo; Boldrini, Renata; Novelli, Antonio; Di Meglio, Aniello; Dallapiccola, Bruno

2018-03-03

Fowler syndrome is a rare autosomal recessive disorder characterized by hydranencephaly-hydrocephaly and multiple pterygium due to fetal akinesia. To date, around 45 cases from 27 families have been reported, and the pathogenic bi-allelic mutations in FLVCR2 gene described in 15 families. The pathogenesis of this condition has not been fully elucidated so far. We report on an additional family with two affected fetuses carrying a novel homozygous mutation in FLVCR2 gene, and describe the impact of known mutants on the protein structural and functional impairment. The present report confirms the genetic homogeneity of Fowler syndrome and describes a new FLVCR2 mutation affecting the protein function. The structural analysis of the present and previously published FLVCR2 mutations supports the hypothesis of a reduced heme import as the underlying disease's mechanism due to the stabilization of the occluded conformation or a protein misfolding. Our data suggest the hypothesis of heme deficiency as the major pathogenic mechanism of Fowler syndrome. © 2018 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.

Genetic characterization of epizootic hemorrhagic disease virus strains isolated from cattle in Israel

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Epizootic hemorrhagic disease virus (EHDV), an Orbivirus not previously reported in Israel, was isolated from Israeli cattle during a “bluetongue like” disease outbreak in 2006. To ascertain the origin of this new virus, three isolates from the outbreak were fully sequenced and compared with availab...

Feline leprosy due to Candidatus 'Mycobacterium lepraefelis': Further clinical and molecular characterisation of eight previously reported cases and an additional 30 cases.

Science.gov (United States)

O'Brien, Carolyn R; Malik, Richard; Globan, Maria; Reppas, George; McCowan, Christina; Fyfe, Janet A

2017-09-01

This paper, the last in a series of three on 'feline leprosy', provides a detailed description of disease referable to the previously unnamed species, Candidatus 'Mycobacterium lepraefelis', a close relative of the human pathogens Mycobacterium leprae and Mycobacterium lepromatosis. Cases were sourced retrospectively and prospectively for this observational study, describing clinical, geographical and molecular microbiological data for cats definitively diagnosed with Candidatus 'M lepraefelis' infection. A total of 145 cases of feline leprosy were scrutinised; 114 'new' cases were sourced from the Victorian Infectious Diseases Reference Laboratory (VIDRL) records, veterinary pathology laboratories or veterinarians, and 31 cases were derived from six published studies. Thirty-eight cats were definitively diagnosed with Candidatus 'M lepraefelis' infection. Typically, cats tended to be middle-aged or older when first infected, with a male predilection. Affected cats typically had widespread cutaneous lesions, in some cases after initially localised disease. Advanced cases were often systemically unwell. All cats had outdoor access. The histological picture was lepromatous in the majority of patients, although two cases had tuberculoid disease. In one case that underwent necropsy, lesions were evident in the liver, spleen and lungs. Treatment was varied, although most cats received a combination of oral clarithromycin and rifampicin. Prognosis for recovery was variable, but typically poor. Candidatus 'M lepraefelis' typically causes high bacterial index (lepromatous) feline leprosy that in some cases progresses to systemic mycobacteriosis. The disease has a variable clinical course and prognosis. Many cases either died or were euthanased due to the infection. Multilocus sequence analysis reveals a heterogeneous picture and further analysis of draft genome sequencing may give clues to the taxonomy and epidemiology of this organism. Prospective treatment trials and

Lyme Disease: Is It or Is It Not?

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BL Johnston

2005-01-01

Full Text Available This past summer, Lyme disease was the topic of a Focus section in the Globe and Mail (1. In this section, the reporter described her experience of having physicians unable and then unwilling to diagnose her symptoms of "skin on fire, dizziness and chest pains, twitching muscles, and trouble keeping balance" as Lyme disease following a tick bite three years previously on Prince Edward Island. She reported finding support for her diagnosis after obtaining a positive test from a California laboratory and after seeing approximately 20 physicians. In her article, she speaks to the controversy surrounding the diagnosis and treatment of Lyme disease, and the tension it creates between those who believe they have it and the physicians they see.

Report on seed born diseases in organic seed and propagation material

OpenAIRE

Micheloni, C.; Plakolm, G.; Schärer, H.

2007-01-01

The key questions which will be addressed in this report are: • Are seed born diseases an important factor that prevents seed companies from producing organic seeds and organic farmers from using them? • Which seed treatments are available in organic farming? Which treatments are or will be acceptable? To which degree are they effective? • Are the thresholds for seed born diseases different among Member States? Can this cause unfair competition among farmers and seed producers? • ...

Psychosis and Silent Celiac Disease in a Down Syndrome Adolescent: A Case Report

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Amparo Morant

2011-01-01

Full Text Available Celiac disease is an autoimmune systemic disorder. It presents gastrointestinal and nongastrointestinal manifestations as well as associated conditions. We report a 16-year-old Down syndrome girl who presented psychosis symptomatology, and she was diagnosed as having silent celiac disease. Olanzapine treatment and gluten-free diet were satisfactory. It is necessary to consider celiac disease in Down syndrome patients with psychiatric symptoms, mainly psychotic symptomatology.

Iatrogenic Creutzfeldt-Jakob disease following human growth hormone therapy: case report.

Science.gov (United States)

Caboclo, Luís Otávio Sales Ferreira; Huang, Nancy; Lepski, Guilherme Alves; Livramento, José Antônio; Buchpiguel, Carlos Alberto; Porto, Cláudia Sellitto; Nitrini, Ricardo

2002-06-01

We report the case of a 41-year-old man with iatrogenic Creutzfeldt-Jakob disease (CJD) acquired after the use of growth hormone (GH) obtained from a number of pituitary glands sourced from autopsy material. The incubation period of the disease (from the midpoint of treatment to the onset of clinical symptoms) was rather long (28 years). Besides the remarkable cerebellar and mental signs, the patient exhibited sleep disturbance (excessive somnolence) from the onset of the symptoms, with striking alteration of the sleep architecture documented by polysomnography. 14-3-3 protein was detected in the CSF, and MRI revealed increased signal intensity bilaterally in the striatum, being most evident in diffusion-weighted (DW-MRI) sequences. This is the second case of iatrogenic CJD associated with the use of GH reported in Brazil.

Iatrogenic Creutzfeldt-Jakob disease following human growth hormone therapy: case report

Directory of Open Access Journals (Sweden)

Caboclo Luís Otávio Sales Ferreira

2002-01-01

Full Text Available We report the case of a 41-year-old man with iatrogenic Creutzfeldt-Jakob disease (CJD acquired after the use of growth hormone (GH obtained from a number of pituitary glands sourced from autopsy material. The incubation period of the disease (from the midpoint of treatment to the onset of clinical symptoms was rather long (28 years. Besides the remarkable cerebellar and mental signs, the patient exhibited sleep disturbance (excessive somnolence from the onset of the symptoms, with striking alteration of the sleep architecture documented by polysomnography. 14-3-3 protein was detected in the CSF, and MRI revealed increased signal intensity bilaterally in the striatum, being most evident in diffusion-weighted (DW-MRI sequences. This is the second case of iatrogenic CJD associated with the use of GH reported in Brazil.

Wilson Disease: Case Report

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Esra Tuğ

2007-01-01

Full Text Available Wilson Disease (WD is an autosomal recessive hereditary disease of human copper metabolism, which causes hepatic and neuropsychiatric diseases. Estimated prevalence is 1: 30.000. In WD, ATP7B gene located on chromosome 13 (13q14.3-q21.1, coding the protein for hepatic copper transport and, having an important role in copper metabolism has been affected. Clinical findings in WD are complex and, neurological symptoms such as tremor, disartria and psychiatric disorders, acute liver deficiency, chronic hepatit or cirrhosis may develop. For the last year, 27 years old female patient observed in other medical centre owing to benign positional vertigo applied to our department. Her sister and brother have been diagnosed as WD. No peripheral syptoms of hepatic disease or hepatosplenomegaly existed in our patient. Neurological examination was normal to except for positional tremor. Because our patient had rare clinical features for WD and bad prognosis, presented by us to emphasize necessity of the researched of the most frequent mutations seen in Turkiye.

Previous induced abortion among young women seeking abortion-related care in Kenya: a cross-sectional analysis.

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Kabiru, Caroline W; Ushie, Boniface A; Mutua, Michael M; Izugbara, Chimaraoke O

2016-05-14

Unsafe abortion is a leading cause of death among young women aged 10-24 years in sub-Saharan Africa. Although having multiple induced abortions may exacerbate the risk for poor health outcomes, there has been minimal research on young women in this region who have multiple induced abortions. The objective of this study was therefore to assess the prevalence and correlates of reporting a previous induced abortion among young females aged 12-24 years seeking abortion-related care in Kenya. We used data on 1,378 young women aged 12-24 years who presented for abortion-related care in 246 health facilities in a nationwide survey conducted in 2012. Socio-demographic characteristics, reproductive and clinical histories, and physical examination assessment data were collected from women during a one-month data collection period using an abortion case capture form. Nine percent (n = 98) of young women reported a previous induced abortion prior to the index pregnancy for which they were receiving care. Statistically significant differences by previous history of induced abortion were observed for area of residence, religion and occupation at bivariate level. Urban dwellers and unemployed/other young women were more likely to report a previous induced abortion. A greater proportion of young women reporting a previous induced abortion stated that they were using a contraceptive method at the time of the index pregnancy (47 %) compared with those reporting no previous induced abortion (23 %). Not surprisingly, a greater proportion of young women reporting a previous induced abortion (82 %) reported their index pregnancy as unintended (not wanted at all or mistimed) compared with women reporting no previous induced abortion (64 %). Our study results show that about one in every ten young women seeking abortion-related care in Kenya reports a previous induced abortion. Comprehensive post-abortion care services targeting young women are needed. In particular, post

The effects of anticholinergic drugs on regional cerebral blood flow, and oxygen metabolism in previously untreated patients with Parkinson`s disease

Energy Technology Data Exchange (ETDEWEB)

Obara, Satoko; Takahashi, Satoshi; Yonezawa, Hisashi; Sato, Yoshitomo [Iwate Medical Univ., Morioka (Japan). School of Medicine

1998-12-01

Regional cerebral blood flow (rCBF) and oxygen metabolism (rCMRO{sub 2}) were measured using the steady-state {sup 15}O technique and positron emission tomography (PET) in six previously untreated patients with Parkinson`s disease before and after trihexyphenidyl (THP) treatment. The patients comprised of 4 men and 2 women with Hoehn-Yahr stage II-III. Their ages at the onset of the study ranged from 46 to 57 years (mean{+-}SD, 51.8{+-}3.7) and the duration of the illness ranged from 10 to 48 months (mean{+-}SD, 28.8{+-}15.5). The PET study, assessments of the disability and cognitive function were undergone twice. The first time assessments were done was when the patients were not receiving any drugs, and the second time was one to three months after administration of 6 mg THP. All patients showed clinical improvement after THP treatment. The mean disability score of Unified Parkinson`s Disease Rating Scale decreased from 35.1 (SD{+-}11.3) to 25.7 (SD{+-}11.6). The cognitive function assessed by Hasegawa`s dementia rating scale-revised, Mini-Mental State Examination, Wechsler Adult Intelligence Scale-Revised, and Wechsler Memory Scale-Revised, were not significantly different before and after the THP treatment. After the THP treatment, rCBF and rCMRO{sub 2} decreased significantly in the striatum (about 15%) and all cerebral cortices (about 10%) on both sides contralateral and ipsilateral to the predominantly symptomatic limbs. We conclude that an anticholinergic THP decreases the rCBF and rCMRO{sub 2} significantly in the cerebral cortices without cognitive impairment in early untreated patients with Parkinson`s disease. (author)

Agreement between reported use of interventions for liver diseases and research evidence in Cochrane systematic reviews

DEFF Research Database (Denmark)

Kürstein, Pia; Gluud, Lise L; Willemann, Marlene

2005-01-01

This study evaluates the agreement between reported use of interventions for patients with liver diseases and research evidence in Cochrane systematic reviews.......This study evaluates the agreement between reported use of interventions for patients with liver diseases and research evidence in Cochrane systematic reviews....

An Official American Thoracic Society Workshop Report 2015. Stem Cells and Cell Therapies in Lung Biology and Diseases.

Science.gov (United States)

Wagner, Darcy E; Cardoso, Wellington V; Gilpin, Sarah E; Majka, Susan; Ott, Harald; Randell, Scott H; Thébaud, Bernard; Waddell, Thomas; Weiss, Daniel J

2016-08-01

The University of Vermont College of Medicine, in collaboration with the NHLBI, Alpha-1 Foundation, American Thoracic Society, Cystic Fibrosis Foundation, European Respiratory Society, International Society for Cellular Therapy, and the Pulmonary Fibrosis Foundation, convened a workshop, "Stem Cells and Cell Therapies in Lung Biology and Lung Diseases," held July 27 to 30, 2015, at the University of Vermont. The conference objectives were to review the current understanding of the role of stem and progenitor cells in lung repair after injury and to review the current status of cell therapy and ex vivo bioengineering approaches for lung diseases. These are all rapidly expanding areas of study that both provide further insight into and challenge traditional views of mechanisms of lung repair after injury and pathogenesis of several lung diseases. The goals of the conference were to summarize the current state of the field, discuss and debate current controversies, and identify future research directions and opportunities for both basic and translational research in cell-based therapies for lung diseases. This 10th anniversary conference was a follow up to five previous biennial conferences held at the University of Vermont in 2005, 2007, 2009, 2011, and 2013. Each of those conferences, also sponsored by the National Institutes of Health, American Thoracic Society, and respiratory disease foundations, has been important in helping guide research and funding priorities. The major conference recommendations are summarized at the end of the report and highlight both the significant progress and major challenges in these rapidly progressing fields.

Detection of previously undiagnosed cases of COPD in a high-risk population identified in general practice

DEFF Research Database (Denmark)

Løkke, Anders; Ulrik, Charlotte Suppli; Dahl, Ronald

2012-01-01

Background and Aim: Under-diagnosis of COPD is a widespread problem. This study aimed to identify previously undiagnosed cases of COPD in a high-risk population identified through general practice. Methods: Participating GPs (n = 241) recruited subjects with no previous diagnosis of lung disease,...

Meeting report - TGF-β superfamily: signaling in development and disease.

Science.gov (United States)

Zhang, Ying E; Newfeld, Stuart J

2013-11-01

The latest advances on the transforming growth factor β (TGF-β) and bone morphogenetic protein (BMP) signaling pathways were reported at the July 2013 FASEB Summer Research Conference 'The TGF-β Superfamily: Development and Disease'. The meeting was held in Steamboat Springs, Colorado, USA at 6700 feet above sea level in the Rocky Mountains. This was the seventh biannual meeting in the series. In attendance were investigators from a broad range of disciplines with a common interest in the mechanics of TGF-β and BMP signaling pathways, their normal developmental and homeostatic functions, and the diseases associated with pathway misregulation.

Self-efficacy as a predictor of patient-reported outcomes in adults with congenital heart disease.

Science.gov (United States)

Thomet, Corina; Moons, Philip; Schwerzmann, Markus; Apers, Silke; Luyckx, Koen; Oechslin, Erwin N; Kovacs, Adrienne H

2018-04-01

Self-efficacy is a known predictor of patient-reported outcomes in individuals with acquired diseases. With an overall objective of better understanding patient-reported outcomes in adults with congenital heart disease, this study aimed to: (i) assess self-efficacy in adults with congenital heart disease, (ii) explore potential demographic and medical correlates of self-efficacy and (iii) determine whether self-efficacy explains additional variance in patient-reported outcomes above and beyond known predictors. As part of a large cross-sectional international multi-site study (APPROACH-IS), we enrolled 454 adults (median age 32 years, range: 18-81) with congenital heart disease in two tertiary care centres in Canada and Switzerland. Self-efficacy was measured using the General Self-Efficacy (GSE) scale, which produces a total score ranging from 10 to 40. Variance in the following patient-reported outcomes was assessed: perceived health status, psychological functioning, health behaviours and quality of life. Hierarchical multivariable linear regression analysis was performed. Patients' mean GSE score was 30.1 ± 3.3 (range: 10-40). Lower GSE was associated with female sex ( p = 0.025), not having a job ( p = 0.001) and poorer functional class ( p = 0.048). GSE positively predicted health status and quality of life, and negatively predicted symptoms of anxiety and depression, with an additional explained variance up to 13.6%. No associations between self-efficacy and health behaviours were found. GSE adds considerably to our understanding of patient-reported outcomes in adults with congenital heart disease. Given that self-efficacy is a modifiable psychosocial factor, it may be an important focus for interventions targeting congenital heart disease patients' well-being.

Coronary arterial disease after electroconvulsive therapy: a case report

Directory of Open Access Journals (Sweden)

Nataly Pimentel Rodrigues

2015-06-01

Full Text Available Objectives Unipolar depression (UPD is a leading cause of global burden of diseases, particularly among the elderly, whose treatment may be challenging. In such cases, ECT is often recommended due to its safety and efficacy. This report presents a case of a 67-year-old male inpatient that developed a rare cardiac complication during ECT. Methods Clinical case report with patient’s consent and bibliographic review. Results A 67-year-old male inpatient with recurrent severe psychotic depression was hospitalized and ECT was indicated after failure of the pharmacological treatment. A comprehensive clinical pre-evaluation revealed only nonspecific ST-segment changes in electrocardiogram. During the 7th ECT session, it was observed transitory ST-segment depression followed by a discrete increase of plasma troponin I. Severe tri-vessel coronary artery stenosis was found and a percutaneous coronary angioplasty was performed, with satisfactory psychiatric and cardiac outcomes. Conclusions Unipolar depression (UPD and cardiovascular disease are often coexistent conditions, especially among the elderly. In the current case, myocardial ischemia was detected lately during ECT therapy and its treatment allowed the UPD treatment to be completed adequately.

Clinical activity of fulvestrant in metastatic breast cancer previously treated with endocrine therapy and/or chemotherapy.

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Heo, Mi Hwa; Kim, Hee Kyung; Lee, Hansang; Kim, Ji-Yeon; Ahn, Jin-Seok; Im, Young-Hyuck; Park, Yeon Hee

2018-03-16

We conducted a retrospective analysis of the clinical activity of fulvestrant in postmenopausal women with hormone receptor-positive, human epidermal growth factor receptor 2 (HER2)-negative metastatic breast cancer (MBC) previously treated with endocrine therapy and/or chemotherapy. We reviewed the medical records of all patients with MBC treated at Samsung Medical Center between January 2009 and August 2016. Patients received fulvestrant 250 mg intramuscularly every 28 days (from January 2009 to November 2010) or 500 mg intramuscularly every 28 days (from December 2010 to August 2016). Tumor responses were assessed every 8 weeks and at the end of treatment, as well as when disease progression was suspected. A total of 84 patients were included in this study. A median of two previous endocrine treatments had been performed; 79% of the patients had received two or more endocrine treatments. Forty-five patients (54%) had been treated with chemotherapy for MBC before the fulvestrant treatment course. Visceral metastasis was found in 49 patients (58%). The estimated median progression-free survival and overall survival were 4.4 months (95% confidence interval [CI], 3.4 to 5.5) and 32.5 months (95% CI, 17.6 to 47.4), respectively. The disease control rate was 40.5% (95% CI, 30.5 to 51.5); partial response was observed in 16% of the patients and stable disease was observed in 25% of the patients. The most frequently reported adverse reactions were mild-to-moderate grade myalgia (10.5% of the patients), injection site pain (7%), and fatigue (7%). Fulvestrant was generally well tolerated. Fulvestrant showed encouraging clinical activity and favorable feasibility in postmenopausal women with MBC who had been treated with multiple endocrine therapies and/or cytotoxic chemotherapies.

Addison's Disease and Dilated Cardiomyopathy: A Case Report and Review of the Literature.

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Mozolevska, Viktoriya; Schwartz, Anna; Cheung, David; Shaikh, Bilal; Bhagirath, Kapil M; Jassal, Davinder S

2016-01-01

Addison's disease is often accompanied by a number of cardiovascular manifestations. We report the case of a 30-year-old man who presented with a new onset dilated cardiomyopathy due to Addison's disease. The clinical presentation, treatment, and outcomes of this rare hormone mediated cardiac disorder are reviewed.

IgG4-related lung disease presenting as interstitial lung disease with bronchiolitis: A case report.

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Chen, Chiu-Fan; Chu, Kuo-An; Tseng, Yen-Chiang; Wu, Chang-Che; Lai, Ruay-Sheng

2017-12-01

IgG4-related disease is a rare and novel disease entity that tends to involve multiple organs. The pulmonary manifestation of this disease is highly variable and may mimic lung cancer, pneumonia, interstitial lung disease (ILD), sarcoidosis, and so forth. Small airway disease is rarely reported in IgG4-related lung disease (IgG4-RLD). In the current study, we describe a rare case of IgG4-RLD with patterns of ILD and bronchiolitis. A 43-year-old man had chronic cough and dyspnea on exertion for 4 years. Initial chest radiography showed diffuse interstitial infiltration. Follow-up chest computed tomography 4 years later revealed bilateral diffuse centrilobular nodules with tree-in-bud pattern, bronchial wall thickening, and mediastinal lymph nodes. Bilateral diffuse multifocal ground-glass opacities and mosaic attenuation were also observed. Pulmonary function test revealed mixed restrictive and obstructive ventilatory impairment. Video-assisted thoracoscopic surgery (VATS) lung biopsy showed interstitial fibrosis with lymphoplasmacytic infiltration rich in IgG4-positive plasma cells. Serum IgG4 level also showed remarkable elevation. Therefore, IgG4-RLD is confirmed. VATS wedge resection of right upper lobe and mediastinal lymph node. The patient responded well to steroid and immunosuppression therapy, and was regular followed-up in outpatient clinic. IgG4-RLD should be considered not only in ILD, but also in small airway disease. Serum IgG4 level may be a useful tool for screening.

Peyronie's disease after urethral swab, an unusual complication: a case report

Directory of Open Access Journals (Sweden)

Paulis G

2015-11-01

Full Text Available Gianni Paulis,1,2 Davide Barletta3 1Andrology Center, Regina Apostolorum Hospital, Albano Laziale, Rome, Italy; 2Castelfidardo Medical Team, Peyronie's Disease Care Center, Rome, Italy; 3Department of Urology, Andrology Center, San Matteo Hospital, Pavia, Italy Abstract: Urethral swabs are still currently used as a diagnostic tool when urethritis or prostatitis are suspected. Urologists are certainly aware that Peyronie's disease may occur after traumatic urethral instrumentation (catheterization, urethrocystoscopy, etc, but onset of Peyronie's disease after urethral swab for diagnostic purposes has never been reported in the literature. This paper presents the case of a patient who developed Peyronie's disease after a clumsy urethral swab insertion. It is an unusual, and to date unreported, complication which we would like to call attention to. In the case of our patient, the swab had been inserted to a greater depth than normally required and strong pressure had also been applied. During the procedure, the patient experienced severe urethral and penile pain, which was followed by urethrorrhagia, and later penile curvature. The patient was treated conservatively with good results, partly because the disease was still in its active stage and not yet stable. In the light of what we report, when ordering a urethral swab, physicians should always recommend that it be performed at testing centers that follow accurate, rigorous standards. Patients should also be informed that the test they are to undergo consists of a swab being inserted into the urethra for a short distance, not more than 2–3 cm. Keywords: genitourinary trauma, penile curvature, Peyronie, urethral swab

Short article: Relapsing Whipple's disease: a case report and literature review.

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Ruggiero, Elena; Zurlo, Anna; Giantin, Valter; Galeazzi, Francesca; Mescoli, Claudia; Nante, Giovanni; Petruzzellis, Florinda; Manzato, Enzo

2016-03-01

Whipple's disease is a rare infection caused by Tropheryma whipplei, a Gram-negative Bacillus usually found in macrophages of the lamina propria of the small intestine. The typical clinical manifestations of classic Whipple's disease are diarrhea, weight loss, malabsorption, abdominal pain, and arthralgia. The disease's laboratory diagnosis is currently based on duodenal biopsy. Treatment generally includes primary therapy for 2 weeks with intravenous antibiotics capable of reaching high levels in the cerebrospinal fluid, such as ceftriaxone, usually followed by treatment with oral cotrimoxazole for 1 year. Early diagnosis should enable appropriate treatment and improves the prognosis, and prolonged antibiotic treatment often leads to complete remission. Our case report focuses on a 72-year-old man who had been passing watery stools for 1-2 months, accompanied by low-grade fever. He reported profound asthenia, a weight loss of about 3 kg, and loss of appetite. Thirty years earlier (in 1984), he had been working as a horse keeper at a University Department of Agricultural and Veterinary Studies, where he had contracted Whipple's disease. Laboratory tests and microbiological studies led to a diagnosis of recurrent Whipple's disease. Esophagogastroduodenoscopy was performed under deep sedation. Biopsy samples obtained from the stomach and duodenum were stained with hematoxylin and eosin, Giemsa, and periodic acid-Schiff to identify any accumulation of typical periodic acid-Schiff-positive macrophages in the lamina propria. A specific quantitative real-time PCR assay using specific oligonucleotide probes for targeting repeated sequences of Tropheryma whipplei was also performed to detect its DNA in the duodenum samples.

Respiratory Syncytial Virus Infection as a Precipitant of Thyroid Storm in a Previously Undiagnosed Case of Graves' Disease in a Prepubertal Girl

Directory of Open Access Journals (Sweden)

Charlton RWilliam

2011-03-01

Full Text Available Graves' disease is less common in prepubertal than pubertal children, and initial presentation with thyroid storm is rare. We report an 11-year-old prepubertal Hispanic girl who presented with a one-day history of respiratory distress, fever, and dysphagia. She had exophthalmos, a diffuse bilateral goiter and was agitated, tachycardic, and hypertensive. Nasal swab was positive for respiratory syncytial virus (RSV. She was diagnosed with thyroid storm and admitted to the pediatric intensive care unit. While infection is a known precipitant of thyroid storm and RSV is a common pediatric infection, to the best of our knowledge, this is the first reported case of RSV infection apparently precipitating thyroid storm in a prepubertal child.

Neuro-Behçet's disease in Peru: a case report and literature review.

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Molina, Roberto A; Huerta-Rosario, Andrely; Alva Díaz, Carlos Alexander; Mejía Rojas, Koni Katerin; Mori, Nicanor; Romero Sánchez, Roberto

2017-06-20

Behçet's disease is a vasculitis that can cause inflammatory lesions in multiple organs or systems including the nervous system. Most cases worldwide have been reported along what is called the "Silk Route" from the Mediterranean region to Japan, so it is considered a rare disease in Latin American countries. The frequency of neurological involvement ranges from 5 to 13%. We present the case of a young adult woman with diagnostic criteria for Behçet's disease and manifestations of neurological disease, as well as a review of the literature.

Cardiometabolic factors and disease duration in patients with Parkinson's disease.

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Cassani, Erica; Cereda, Emanuele; Barichella, Michela; Madio, Carmen; Cancello, Raffaella; Caccialanza, Riccardo; Zini, Michela; Cilia, Roberto; Pezzoli, Gianni

2013-01-01

Previous studies have reported that patients with Parkinson's disease (PD) have a favorable cardiometabolic risk profile. The aim of this study was to investigate the relationship between cardiometabolic risk factors and the duration of disease. One hundred and fifty patients with PD (56.7% men) were studied, measuring body mass index (BMI), waist circumference (WC), body fat percentage (BF%) by impedance, fasting glucose, serum lipids, and transaminases. In sex- and age-adjusted correlation models, duration of PD was inversely related to BMI (r = -0.20; P HDL) levels were positively correlated with disease duration (P HDL-cholesterol ratio was also inversely associated with duration of PD (P HDL levels and total HDL-cholesterol ratio were favorably associated with duration of PD. This factor may contribute to cardiometabolic protection in PD. The mechanisms underlying this association deserve further investigation. Copyright © 2013 Elsevier Inc. All rights reserved.

Yellow fever vaccine-associated neurotropic disease (YEL-AND) - A case report.

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Florczak-Wyspiańska, Jolanta; Nawotczyńska, Ewa; Kozubski, Wojciech

Yellow fever (YF) is a mosquito-borne viral hemorrhagic fever, which is a serious and potentially fatal disease with no specific antiviral treatment that can be effectively prevented by an attenuated vaccine (YEL). Despite the long history of safe and efficacious YF vaccination, sporadic case reports of serious adverse events (SAEs) have been reported, including yellow fever vaccine-associated neurotropic disease (YEL-AND). YEL-AND usually appears within one month of YF vaccination, manifesting as meningoencephalitis, Guillain-Barré syndrome (GBS) or acute disseminated encephalomyelitis (ADEM). We report a case of YEL-AND with meningitis presentation in a 39-year-old Caucasian man without evidence of significant risk factors, which was confirmed by the presence of the YF virus and specific immunoglobulin G (IgG) antibodies in the cerebrospinal fluid (CSF). In conclusion, we should stress the importance of balancing the risk of SAEs associated with the vaccine and the benefits of YF vaccination for each patient individually. Copyright © 2016 Polish Neurological Society. Published by Elsevier Urban & Partner Sp. z o.o. All rights reserved.

Mixed Connective Tissue Disease and Papillary Thyroid Cancer: A Case Report.

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Thongpooswan, Supat; Tushabe, Rachel; Song, Jeffrey; Kim, Paul; Abrudescu, Adriana

2015-08-06

Mixed connective tissue disease (MCTD) is a connective tissue disorder characterized by high titers of distinct antibodies: U1 ribonucleoprotein with clinical features seen in systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), dermatomyositis (DM), polymyositis, and scleroderma. The association of SLE and DM with various cancers of the thyroid has been reported in the literature. However, there have been no reports associating MCTD with thyroid cancer. We present a 58-year-old woman diagnosed with MCTD with co-morbid interstitial lung disease that has remained stable for 10 years, who developed papillary thyroid carcinoma (PTC) 10 years after initial diagnosis. We theorize that: 1) MCTD may have been a primary diagnosis complicated by PTC, or 2) MCTD may have been an initial presentation of paraneoplastic syndrome of silent PTC, because her symptoms of MCTD significantly improved after total thyroidectomy. To the best of our knowledge, this is the first case report to associate MCTD with PTC. It highlights the importance of maintaining a high index of suspicion for thyroid malignancy in MCTD patients.

Cushing Disease Presenting as Primary Psychiatric Illness: A Case Report and Literature Review.

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Rasmussen, Sean A; Rosebush, Patricia I; Smyth, Harley S; Mazurek, Michael F

2015-11-01

We report the case of a woman with long-standing refractory depression and psychotic features who was eventually diagnosed with Cushing disease. After surgical treatment of a pituitary adenoma, she experienced gradual psychiatric recovery and was eventually able to discontinue all psychotropic medication. We review the psychiatric components of Cushing disease, implications of psychiatric illnesses for the treatment and prognosis of Cushing disease, and potential pathophysiological mechanisms linking glucocorticoid excess to psychiatric illness.

Addison's disease - the difficulty of diagnosis

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Clara Preto

2018-04-01

Full Text Available Introduction: Primary adrenal insufficiency is a rare disease, especially in pediatric age. Case report: We report the case of a teenager with astenia with four months’ evolution, causing repeated visits to the emergency department during the previous month due gastrointestinal symptoms and a ten kilograms weight loss. In admission the patient had a reasonable general condition, hydrated and without cutaneous hyperpigmentation. Laboratory results showed hyponatremia, increased levels of corticotropin with normal cortisol levels, increased levels of renin with decreased aldosterone levels and presence of antissuprarrenal antibodies, allowing the diagnosis of autoimmune primary adrenal insufficiency. The boy started treatment with hydrocortisone and fludrocortisone with favorable response. Discussion/conclusions: The diagnosis of Addison’s disease requires a high degree of suspicion due its unspecific symptomatology. This disease often presents gastrointestinal symptoms. Thus, towards a patient with hyponatremia accompanied by constitutional and gastrointestinal symptoms, we must always consider this diagnosis.

Speech and Communication Changes Reported by People with Parkinson's Disease.

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Schalling, Ellika; Johansson, Kerstin; Hartelius, Lena

2017-01-01

Changes in communicative functions are common in Parkinson's disease (PD), but there are only limited data provided by individuals with PD on how these changes are perceived, what their consequences are, and what type of intervention is provided. To present self-reported information about speech and communication, the impact on communicative participation, and the amount and type of speech-language pathology services received by people with PD. Respondents with PD recruited via the Swedish Parkinson's Disease Society filled out a questionnaire accessed via a Web link or provided in a paper version. Of 188 respondents, 92.5% reported at least one symptom related to communication; the most common symptoms were weak voice, word-finding difficulties, imprecise articulation, and getting off topic in conversation. The speech and communication problems resulted in restricted communicative participation for between a quarter and a third of the respondents, and their speech caused embarrassment sometimes or more often to more than half. Forty-five percent of the respondents had received speech-language pathology services. Most respondents reported both speech and language symptoms, and many experienced restricted communicative participation. Access to speech-language pathology services is still inadequate. Services should also address cognitive/linguistic aspects to meet the needs of people with PD. © 2018 S. Karger AG, Basel.

New determinants for gallstone disease?


DEFF Research Database (Denmark)

Shabanzadeh, Daniel Mønsted

2018-01-01

screened for gallstone disease with multiple ultrasound examinations, it was possible to both confirm previously identified determinants and to identify new determinants for gallstone disease. Temporal associations for incident gallstone disease and female sex, BMI, non-HDL cholesterol, and inverse...... is the self-reported exposures which may cause misclassification bias. If explored in future studies, assessment of lifestyle habits should include objective measures in order to contribute any further to existing evidence on determinants for gallstone disease.
Associations for biomarkers of insulin...... formation have a long history and the most established include bile cholesterol saturation, gallbladder motor function, and the enterohepatic circulation of secondary bile salts produced by fecal microbiota. A small number of determinants that are believed to affect these mechanisms have been identified...

The pathogenicity of genetic variants previously associated with left ventricular non-compaction

DEFF Research Database (Denmark)

Abbasi, Yeganeh; Jabbari, Javad; Jabbari, Reza

2016-01-01

BACKGROUND: Left ventricular non-compaction (LVNC) is a rare cardiomyopathy. Many genetic variants have been associated with LVNC. However, the number of the previous LVNC-associated variants that are common in the background population remains unknown. The aim of this study was to provide...... an updated list of previously reported LVNC-associated variants with biologic description and investigate the prevalence of LVNC variants in healthy general population to find false-positive LVNC-associated variants. METHODS AND RESULTS: The Human Gene Mutation Database and PubMed were systematically...... searched to identify all previously reported LVNC-associated variants. Thereafter, the Exome Sequencing Project (ESP) and the Exome Aggregation Consortium (ExAC), that both represent the background population, was searched for all variants. Four in silico prediction tools were assessed to determine...

A Case Report of Cushing’s Disease Presenting as Hair Loss

Directory of Open Access Journals (Sweden)

Emily G. Lefkowitz

2017-02-01

Full Text Available Cushing’s syndrome is a rare endocrine disorder that comprises a large group of signs and symptoms resulting from chronic exposure to excess corticosteroids. Most cases of Cushing’s syndrome are due to increased adrenocorticotropic hormone production from a pituitary adenoma, which is referred to as Cushing’s disease. Most of the signs and symptoms are nonspecific and common in the general population, making a diagnosis often challenging. However, several dermatological manifestations, such as fragile skin, easy bruising, and reddish purple striae, are more discriminatory. Because uncontrolled Cushing’s syndrome of any etiology is associated with substantial morbidity, including increased cardiovascular disease and mortality, it is important to make an early diagnosis. Unfortunately, median delays of 2 years to diagnosis have been reported. We report a case of a woman who had multiple dermatological findings, including facial plethora, easy bruising, violaceous striae, hirsutism, and acne, the latter 2 signs reflecting androgen excess. Of interest, our patient presented with a chief complaint of hair loss, a common complaint in the general population that occurs with a greater frequency in patients with Cushing’s disease and is attributed to androgenetic alopecia, but it is rarely the presenting symptom.

Case report of a bilateral adrenal myelolipoma associated with Cushing disease.

Science.gov (United States)

Park, Se Yoon; Kwak, Mi Kyung; Kim, Hye Jeong; Park, Hyeong Kyu; Suh, Kyo-Il; Yoo, Myung Hi; Jin, So Young; Yun, Sumi; Byun, Dong Won

2017-12-01

Adrenal myelolipomas are rare benign tumors, composed of a variable mixture of mature adipose tissue and hematopoietic tissue. These tumors are frequently detected incidentally and are usually asymptomatic, and hormonally inactive. During a routine health checkup, a 52-year-old man was found to have a tumor on the bilateral adrenal glands. Abdominal computed tomography revealed a well-defined, heterogeneously enhanced bilateral adrenal mass, suggesting a myelolipoma. The hormonal evaluation revealed adrenocorticotropic hormone (ACTH) dependent Cushing syndrome. The patient underwent left adrenalectomy, and transsphenoidal resection of a pituitary mass. The final diagnosis was adrenal myelolipoma associated with Cushing disease. Growth of right adrenal myelolipoma was detected during the 7-year follow-up. There were enhancing pituitary lesions in repeat magnetic resonance imaging of the sellar region, which implies persistent or recurrent pituitary adenoma. This case reinforces relationship between Cushing disease and adrenal myelolipoma. To the best of our knowledge, this is the first reported pathologically confirmed bilateral adrenal myelolipoma associated with Cushing disease. This report supports the idea that ACTH is associated with the development of adrenal myelolipoma. Copyright © 2017 The Authors. Published by Wolters Kluwer Health, Inc. All rights reserved.

Agreement between the results of meta-analyses from case reports and from clinical studies regarding the efficacy of laronidase therapy in patients with mucopolysaccharidosis type I who initiated enzyme replacement therapy in adult age: An example of case reports meta-analyses as an useful tool for evidence-based medicine in rare diseases.

Science.gov (United States)

Sampayo-Cordero, Miguel; Miguel-Huguet, Bernat; Pardo-Mateos, Almudena; Moltó-Abad, Marc; Muñoz-Delgado, Cecilia; Pérez-López, Jordi

2018-02-01

Case reports might have a prominent role in the rare diseases field, due to the small number of patients affected by one such disease. A previous systematic review regarding the efficacy of laronidase therapy in patients with mucopolysaccharidosis type I (MPS-I) who initiated enzyme replacement therapy (ERT) in adult age has been published. The review included a meta-analysis of 19 clinical studies and the description of eleven case reports. It was of interest to perform a meta-analysis of those case reports to explore the role of such meta-analyses as a tool for evidence-based medicine in rare diseases. The study included all case reports with standard treatment regimen. Primary analysis was the percentage of case reports showing an improvement in a specific outcome. Only when that percentage was statistically higher than 5%, the improvement was confirmed as such. The outcomes that accomplished this criterion were ranked and compared to the GRADE criteria obtained by those same outcomes in the previous meta-analysis of clinical studies. There were three outcomes that had a significant improvement: Urine glycosaminoglycans, liver volume and 6-minute walking test. Positive and negative predictive values, sensitivity and specificity for the results of the meta-analysis of case reports as compared to that of clinical studies were 100%, 88.9%, 75% and 100%, respectively. Accordingly, absolute (Rho=0.82, 95%CI: 0.47 to 0.95) and relative agreement (Kappa=0.79, 95%CI: 0.593 to 0.99) between the number of case reports with improvement in a specific outcome and the GRADE evidence score for that outcome were good. Sensitivity analysis showed that agreement between the meta-analysis of case reports and that of the clinical studies were good only when using a strong confirmatory strategy for outcome improvement in case reports. We found an agreement between the results of meta-analyses from case reports and from clinical studies in the efficacy of laronidase therapy in

A Supervised Learning Process to Validate Online Disease Reports for Use in Predictive Models.

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Patching, Helena M M; Hudson, Laurence M; Cooke, Warrick; Garcia, Andres J; Hay, Simon I; Roberts, Mark; Moyes, Catherine L

2015-12-01

Pathogen distribution models that predict spatial variation in disease occurrence require data from a large number of geographic locations to generate disease risk maps. Traditionally, this process has used data from public health reporting systems; however, using online reports of new infections could speed up the process dramatically. Data from both public health systems and online sources must be validated before they can be used, but no mechanisms exist to validate data from online media reports. We have developed a supervised learning process to validate geolocated disease outbreak data in a timely manner. The process uses three input features, the data source and two metrics derived from the location of each disease occurrence. The location of disease occurrence provides information on the probability of disease occurrence at that location based on environmental and socioeconomic factors and the distance within or outside the current known disease extent. The process also uses validation scores, generated by disease experts who review a subset of the data, to build a training data set. The aim of the supervised learning process is to generate validation scores that can be used as weights going into the pathogen distribution model. After analyzing the three input features and testing the performance of alternative processes, we selected a cascade of ensembles comprising logistic regressors. Parameter values for the training data subset size, number of predictors, and number of layers in the cascade were tested before the process was deployed. The final configuration was tested using data for two contrasting diseases (dengue and cholera), and 66%-79% of data points were assigned a validation score. The remaining data points are scored by the experts, and the results inform the training data set for the next set of predictors, as well as going to the pathogen distribution model. The new supervised learning process has been implemented within our live site and is

Summary of Notifiable Infectious Diseases and Conditions - United States, 2015.

Science.gov (United States)

Adams, Deborah A; Thomas, Kimberly R; Jajosky, Ruth Ann; Foster, Loretta; Baroi, Gitangali; Sharp, Pearl; Onweh, Diana H; Schley, Alan W; Anderson, Willie J

2017-08-11

The Summary of Notifiable Infectious Diseases and Conditions - United States, 2015 (hereafter referred to as the summary) contains the official statistics, in tabular and graphical form, for the reported occurrence of nationally notifiable infectious diseases and conditions in the United States for 2015. Unless otherwise noted, data are final totals for 2015 reported as of June 30, 2016. These statistics are collected and compiled from reports sent by U.S. state and territories, New York City, and District of Columbia health departments to the National Notifiable Diseases Surveillance System (NNDSS), which is operated by CDC in collaboration with the Council of State and Territorial Epidemiologists (CSTE). This summary is available at https://www.cdc.gov/MMWR/MMWR_nd/index.html. This site also includes summary publications from previous years.

Summary of Notifiable Infectious Diseases and Conditions - United States, 2013.

Science.gov (United States)

Adams, Deborah; Fullerton, Kathleen; Jajosky, Ruth; Sharp, Pearl; Onweh, Diana; Schley, Alan; Anderson, Willie; Faulkner, Amanda; Kugeler, Kiersten

2015-10-23

The Summary of Notifiable Infectious Diseases and Condition-United States, 2013 (hereafter referred to as the summary) contains the official statistics, in tabular and graphic form, for the reported occurrence of nationally notifiable infectious diseases and conditions in the United States for 2013. Unless otherwise noted, data are final totals for 2013 reported as of June 30, 2014. These statistics are collected and compiled from reports sent by U.S. state and territory, New York City, and District of Columbia health departments to the National Notifiable Diseases Surveillance System (NNDSS), which is operated by CDC in collaboration with the Council of State and Territorial Epidemiologists (CSTE). This summary is available at http://www.cdc.gov/mmwr/mmwr_nd/index.html. This site also includes summary publications from previous years.

A brain mass in a patient with Behcet's disease: a case report.

Science.gov (United States)

Alfedaghi, Ahmad S; Masters, Y; Mourou, M; Eshak, O

2015-09-30

This case report describes an uncommon presentation of Behcet's disease which manifested as neuro-Behcet's disease. Although it is not the first reported case in the medical literature, it is a possible differential in a patient presenting with a brain tumor. Since the diagnosis of neuro-Behcet's disease depends largely on the clinical picture and medical history, it should be considered prior to opting for invasive diagnostic methods. Our patient is a 36-year-old white man from Kuwait. He presented with acute onset of headache, vomiting, and right-sided weakness. Magnetic resonance imaging of his brain showed a mass in the brain stem. He then revealed that he had a history of recurrent painful oral and genital ulcers for the past 10 years, which suggested a diagnosis of Behcet's disease. A brain biopsy was recommended by a neurosurgeon at the time, but the patient refused the procedure. After initiating steroid therapy, the mass began to regress and, eventually, was undetectable on subsequent imaging of his brain. This case of neuro-Behcet's disease reflects the need to consider this diagnosis in a patient of less than 40 years of age presenting with a suspected brain tumor. This may delay the need for invasive diagnostic methods, especially if such methods are not desired by the patient. In the management of suspected neuro-Behcet's disease, initiating steroid therapy and measuring the response is a reasonable option before seeking a definitive diagnosis via brain biopsy. If the response to steroids is minimal then a brain biopsy should be performed.

A Smartphone-Based Application Improves the Accuracy, Completeness, and Timeliness of Cattle Disease Reporting and Surveillance in Ethiopia

Directory of Open Access Journals (Sweden)

Tariku Jibat Beyene

2018-01-01

Full Text Available Accurate disease reporting, ideally in near real time, is a prerequisite to detecting disease outbreaks and implementing appropriate measures for their control. This study compared the performance of the traditional paper-based approach to animal disease reporting in Ethiopia to one using an application running on smartphones. In the traditional approach, the total number of cases for each disease or syndrome was aggregated by animal species and reported to each administrative level at monthly intervals; while in the case of the smartphone application demographic information, a detailed list of presenting signs, in addition to the putative disease diagnosis were immediately available to all administrative levels via a Cloud-based server. While the smartphone-based approach resulted in much more timely reporting, there were delays due to limited connectivity; these ranged on average from 2 days (in well-connected areas up to 13 days (in more rural locations. We outline the challenges that would likely be associated with any widespread rollout of a smartphone-based approach such as the one described in this study but demonstrate that in the long run the approach offers significant benefits in terms of timeliness of disease reporting, improved data integrity and greatly improved animal disease surveillance.

Lhermitte-Duclos disease and pregnancy

International Nuclear Information System (INIS)

Franko, A.; Holjar-Erlic, I.; Miletic, D.; Petrovic, O.

2006-01-01

Background. Lhermitte-Duclos disease or dysplastic gangliocytoma of the cerebellum is a rare disorder that can cause progressive mass effects to the structures occupying posterior fossa. Magnetic resonance imaging is a diagnostic modality of choice demonstrating characteristic non-enhancing gyriform pattern with the enlargement of cerebellar folia, hypointense on T1 and hyperintense on T2 weighted magnetic resonance images. Case report. The authors present a case of 37-year old woman with previously unknown Lhermitte-Duclos disease in the third trimester of pregnancy from the first signs of the disease to the first six months after delivery. Conclusions. More experience will be needed with this disease in pregnancy and post delivery period to recommend pregnancy for women with such condition. However, this case shows that a pregnant woman with Lhermitte-Duclos disease could reach full-term pregnancy and deliver a healthy child, without lifethreatening risk. (author)

Transfusion Complications in Thalassemia Patients: A Report from the Centers for Disease Control and Prevention (CDC)

Science.gov (United States)

Vichinsky, Elliott; Neumayr, Lynne; Trimble, Sean; Giardina, Patricia J.; Cohen, Alan R.; Coates, Thomas; Boudreaux, Jeanne; Neufeld, Ellis J.; Kenney, Kristy; Grant, Althea; Thompson, Alexis A.

2015-01-01

Background and Study Objectives Transfusions are the primary therapy for thalassemia but have significant cumulative risks. In 2004, the Centers for Disease Control and Prevention (CDC) established a national blood safety monitoring program for thalassemia. The purpose of this report is to summarize the patient population as well as previous non-immune and immune transfusion complications at the time of enrollment into the program. A focus on factors associated with allo- and auto-immunization in chronically transfused patients and a description of blood product preparation and transfusion practices at the participating institutions are included. Study Design and Methods The CDC Thalassemia Blood Safety Network is a consortium of thalassemia centers, longitudinally following patients to determine transfusion-related complications. Enrollment occurred from 2004 through 2012 and annual data collection is ongoing. Demographic data, transfusion history, and previous transfusion and non-transfusion complications were summarized for patients enrolled between 2004 and 2011. Logistic analyses of factors associated with allo- and auto-immunization were developed. Summary statistics of infections reported at the time of enrollment were also calculated. Results The race/ethnicity of the 407 thalassemia patients enrolled in the Network was predominantly Asian or Caucasian and 27% were immigrants. The average age was 22.3 years ± 13.2 and patients received an average total number of 149 ± 103.4 units of red blood cells. Iron-induced multi-organ dysfunction was common despite chelation. At study entry, 86 patients had previously been exposed to possible transfusion-associated pathogens, including Hepatitis-C (61), Hepatitis B (20), Hepatitis A (3), Parvovirus (9), HIV (4), malaria (1), staphylococcus aureus (1) and babesia (1). As 27% of the population was born outside of the United States (India, Pakistan, Thailand, China, Vietnam and Iran accounting for 57%), the source of

Domestically Acquired Legionnaires’ Disease: Two Case Reports and a Review of the Pertinent Literature

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Haluk Erdoğan

2016-06-01

Full Text Available Background: Legionella species may colonize in home water systems and cause Legionnaires’ disease (LD. We herein report two cases of sporadic LD associated with the solar energy-heated hot water systems of the patients’ houses. Case Report: A 60-year-old woman with chronic bronchitis and diabetes mellitus presented with a high fever, abdominal pain, and diarrhea. Physical examination revealed rales, and her chest radiograph showed a homogeneous density in the left lung. The Legionella urinary antigen test was positive, and an indirect fluorescent antibody test revealed a serum antibody titer of 1/520 for L. pneumophila serogroup 1. In the second case, a 66-year-old man with diabetes mellitus was treated for pneumonia at another hospital. After the patient’s general condition worsened and he required mechanical ventilation, he was referred to our hospital. The Legionella urinary antigen test was positive. Neither of the patients had been hospitalized or travelled within the previous month. Both patients used hot water storage tanks heated by solar energy; both also used an electrical device in the bathroom to heat the water when solar energy alone was insufficient. The hot water samples from the residences of both patients were positive for L. pneumophila serogroup 1. Conclusion: These cases show that domestic hot water systems heated by solar energy must be considered a possible source of community-acquired LD.

Presumed Isotretinoin-Induced, Concomitant Autoimmune Thyroid Disease and Ocular Myasthenia Gravis: A Case Report

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Huseyin Gursoy

2012-11-01

Full Text Available Introduction: There are many adverse effects that have been described for isotretinoin. To the best of our knowledge, this is the first report of a possible association of oral isotretinoin intake with autoimmune thyroiditis and ocular myasthenia gravis (OMG. Case Presentation: A 19-year-old Caucasian male, who had used oral isotretinoin for severe acne disease for the previous six months, was referred to our clinic. He had a three-week history of diplopia and variable bilateral ptosis. Physical examination showed moderate periorbital edema and limitations of up- and down-gaze in the left eye. Laboratory findings and thyroid ultrasound were consistent with autoimmune thyroiditis. Antithyroid therapy did not relieve the clinical symptoms. Concomitant OMG was suspected. Variable ptosis and a positive response to oral prednisolone of 40 mg/day and pyridostigmine of 360 mg/day supported the diagnosis of concomitant autoimmune thyroiditis and OMG. Conclusion: Autoimmune disorders may be triggered by oral isotretinoin treatment. Clinicians prescribing isotretinoin should be aware of the possible association between isotretinoin intake and concomitant autoimmune thyroiditis and OMG.

Laryngeal lipoma associated with Madelung's disease: a case report.

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Landínez-Cepeda, Guillermo Arturo; Alarcos-Tamayo, Emilio V; Millás-Gómez, Teresa; Morais-Pérez, Darío

2012-01-01

Multiple symmetric lipomatosis is an alteration in the neck, upper trunk and upper extremities fat deposits. It produces an aesthetic problem and sometimes upper airway obstruction when the larynx is infiltrated by the mass. We report the case of a male with Madelung's disease, which began with acute dyspnea caused by laryngeal fat deposits and obstructive lipoma. Copyright © 2010 Elsevier España, S.L. All rights reserved.

Angiofollicular Lymph Node Hyperplasia(=Castleman's Disease)-Report of A Case-

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Gil, Hak Jun; Oh, Yoon Kyung; Yoon, Sei Chul; Shinn, Kyung Sub; Bahk, Yong Whee [Catholic University College of Medicine, Seoul (Korea, Republic of)

1987-06-15

Angiofollicular lymph node hyperplasia (AFLNH) with well marginated lymphoid masses, is a rare benign disease of unknown etiology. The majority of the disease develop intrathoracically. Histologically this disease can be divided into the hyaline-vascular and the plasma cell types with the hyaline-vascular type prevailing. The plasma cell variant has been associated with nephritic syndrome, anemia, growth failure, fever, hyperglobulinemia, peripheral neuropathy, and hypoalbuminemia. Surgical resection is known to be treatment of choice in most cases, and radiotherapy is reserved for advanced, unresectable lesions. We report a complete remission of AFLNH in a case treated by surgical excision followed by irradiation.

Different impact of aspirin on renal progression in patients with predialysis advanced chronic kidney disease with or without previous stroke.

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Hsiao, Kuang-Chih; Huang, Jing-Yang; Lee, Chun-Te; Hung, Tung-Wei; Liaw, Yung-Po; Chang, Horng-Rong

2017-04-01

The benefit of reducing the risk of stroke against increasing the risk of renal progression associated with antiplatelet therapy in patients with advanced chronic kidney disease (CKD) is controversial. We enrolled 1301 adult patients with advanced CKD treated with erythropoiesis stimulating agents from January 1, 2002 to June 30, 2009 from the 2005 Longitudinal Health Insurance Database in Taiwan. All of the patients were followed until the development of the primary or secondary endpoints, or the end of the study (December 31, 2011). The primary endpoint was the development of ischemic stroke, and the secondary endpoints included hospitalization for bleeding events, cardiovascular mortality, all-cause mortality, and renal failure. The adjusted cumulative probability of events was calculated using multivariate Cox proportional regression analysis. Adjusted survival curves showed that the usage of aspirin was not associated with ischemic stroke, hospitalization for bleeding events, cardiovascular mortality or all-cause mortality, however, it was significantly associated with renal failure. In subgroup analysis, aspirin use was associated with renal failure in the patients with no history of stroke (HR, 1.41; 95% CI, 1.14-1.73), and there was a borderline interaction between previous stroke and the use of aspirin on renal failure (interaction p=0.0565). There was no significant benefit in preventing ischemic stroke in the patients with advanced CKD who received aspirin therapy. Furthermore, the use of aspirin was associated with the risk of renal failure in the patients with advanced CKD without previous stroke. Copyright © 2016 European Federation of Internal Medicine. Published by Elsevier B.V. All rights reserved.

Profile of renal diseases in Iraqi children: A single-center report

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Shatha Hussain Ali

2015-01-01

Full Text Available Renal disease in hospitalized children can be difficult to diagnose early as it may exhibit few symptoms, unlike in adults. This study reports the epidemiological data, percentages and types of renal disorders in children seen at the pediatric nephrology center of the AlKadhymia Teaching Hospital, Baghdad, Iraq. A retrospective review of the charts of all patients, aged between one month and 14 years, who were admitted and followed-up for a period of three years from January 2009 till January 2012 were studied. The presence of renal disease based on their clinical records, laboratory tests and final diagnosis were noted. A total of 4785 children were admitted during the study period, of whom 326 renal disorders were observed in 281 children (5.8%. The affected children included 158 males (56.2% and 123 females (43.7%. Majority of the cases were above two years of age (n = 181; 64.4%. Among them, urinary tract infection, seen in 60 patients (18.4%, was the most common renal disease, followed by nephrotic syndrome (n = 52; 15.9%, renal stone disease (n = 49; 15%, congenital malformations (n = 46; 14.1%, acute renal failure (n = 37; 11.3%, chronic renal failure (n = 22; 6.7%, glomerulonephritis (n = 16; 4.9%, isolated hematuria (n = 14; 4.2%, hypertension (n = 8; 2.4%, tubular disorders [renal tubular acidosis (n = 8; 2.4%, isolated hypercalciuria (n = 7; 2.1%, Bartter syndrome (n = 1; 0.3%] and Wilm′s tumor in six (1.8% patients. The spectrum of renal disorders in Iraq is wide, and is similar to those reported from other developing countries with a predominance of infectious diseases.

Carotid body tumor imitator: An interesting case of Castleman's disease.

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Shakir, Hakeem J; Diletti, Sara M; Hart, Alexandra M; Meyers, Joshua E; Dumont, Travis M; Siddiqui, Adnan H

2015-01-01

There are very few reports in the literature of Castleman's disease affecting the carotid artery and a single previous report of a case of Castleman's disease of the neck originally mistaken as a carotid body tumor. We describe a rare case of Castleman's disease, manifesting with classic radiographic hallmarks of a carotid body tumor. The postoperative pathologic examination identified the resected mass as Castleman's lymphadenopathy. The management of this particular case is discussed, and the findings are highlighted. We present a unique case of a tumor initially and incorrectly diagnosed as a carotid body tumor. However, after comprehensive treatment with endovascular and surgical modalities and subsequent pathologic examination, the diagnosis of this rare entity was made.

Link Between Celiac Disease and Inflammatory Bowel Disease.

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Shah, Ayesha; Walker, Marjorie; Burger, Daniel; Martin, Neal; von Wulffen, Moritz; Koloski, Natasha; Jones, Mike; Talley, Nicholas J; Holtmann, Gerald J

2018-05-14

The aim of this analysis was to assess in patients with inflammatory bowel disease (IBD) the risk of celiac disease and in celiac disease patients the risk of IBD. Previous studies report a possible association between IBD and celiac disease; however, this link is controversial. Using the search terms "inflammatory bowel disease" and "celiac disease," we identified initially 1525 publications. In total 27 studies met inclusion criteria. Proportions and 95% confidence intervals (CIs) for the prevalence of IBD in celiac disease and vice versa were compared with published prevalence rates for the respective geographic regions. We included 41,482 adult IBD patients (20,357 with Crohn's disease; 19,791 with ulcerative colitis; and 459 patients with celiac disease). Overall, in IBD patients the prevalence of celiac disease was 1110/100,000 (95% CI, 1010-1210/100,000) as compared with a prevalence of 620/100,000 (95% CI, 610-630/100,000) in the respective populations (odds ratio, 2.23; 95% CI, 1.99-2.50). In contrast, in patients with celiac disease, 2130/100,000 had IBD (95% CI, 1590-2670/100,000) as compared with 260/100,000 (95% CI, 250/100,000-270/100,000) in the respective populations (odds ratio, 11.10; 95% CI, 8.55-14.40). This effect was not different for ulcerative colitis and Crohn's disease. Although there was no evidence for publication bias for celiac disease in IBD, the funnel plot suggested that the association between IBD in celiac disease might be influenced by publication bias. The data are consistent with the notion that celiac disease is a risk factor for IBD and to lesser degree patients with IBD have an increased risk of celiac disease.

Perivascular fibrosis and IgG4-related disease: a case report

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S. Monti

2014-11-01

Full Text Available Immunoglobulin G4-related disease (IgG4-RD is a newly recognized fibroinflammatory condition which can potentially involve any organ. Some characteristic histopathologic features with lymphoplasmacytic infiltrate, an increased number of IgG4+ cells, storiform fibrosis and obliterative phlebitis are the mainstay for diagnosis. Serum IgG4 levels often increase. We report the case of a patient with perivascular fibrotic lesions involving the aortic arch and the splenic hilum, with a surgical biopsy-proven diagnosis of IgG4-related disease. The patient is now undergoing a low-dose corticosteroid maintenance therapy without evidence of new localizations of the disease. This case highlights the need for increasing awareness and recognition of this new, emerging clinical condition.

Pulmonary Arterial Hypertension in Glycogen Storage Disease Type I

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Rachel D. Torok MD

2017-05-01

Full Text Available Pulmonary arterial hypertension (PAH is a rare and highly fatal disease that has been reported in 8 patients with glycogen storage disease type I (GSDI. We describe an additional case of an acute presentation of PAH in a 14-year-old patient with GSDI, which was successfully treated with inhaled nitric oxide and sildenafil. We investigated the incidence of PAH in 28 patients with GSDI on routine echocardiography and found no evidence of PAH and no significant cardiac abnormalities. This study highlights that PAH is a rare disease overall, but our case report and those previously described suggest an increased incidence in patients with GSDI. Should cardiopulmonary symptoms develop, clinicians caring for patients with GSDI should have a high degree of suspicion for acute PAH and recognize that prompt intervention can lead to survival in this otherwise highly fatal disease.

Annual vaccine-preventable disease report for New South Wales, Australia, 2014

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Nathan Saul

2017-06-01

Full Text Available This report provides an epidemiological description of selected vaccine-preventable diseases in New South Wales (NSW, Australia, for 2014 to inform ongoing disease monitoring and control efforts. A trend of increasing pertussis notifications was observed, beginning midway through 2014 with the highest disease rates in the 5–9 year age group. Measles notifications increased to 67 cases in 2014 from 34 cases in 2013. Measles cases were associated with travel-related importations—predominantly from the Philippines—and secondary transmission increased compared to 2013 involving three main disease clusters. Notifications of invasive meningococcal disease continued to decline across the state with meningococcal B remaining the most common serogroup in NSW. Increasing rates of pertussis notifications from mid-2014 may indicate the beginning of an epidemic, ending the period of low transmission observed in 2013 and the first half of 2014. An increase in measles notifications in 2014, including secondary transmission, indicates the continued need for public health actions including robust follow-up and awareness campaigns.

Aortitis With Severe Aortic Regurgitation in Behcet's Disease: A Case Report

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Hsin-Hui Chiu

2010-01-01

Full Text Available Behcet's aortitis is a rare, but one of the most severe complications of Behcet's disease. We report a 24-year-old woman who was noted initially to have aortitis and severe aortic regurgitation caused by Behcet's disease. After receiving aortic valve replacement, aortoplasty and immunosuppressant therapy, her condition became stationary. As far as we are aware, she is the youngest case that has undergone surgery. The early onset of hemodynamic decompensation is considered to be related to delay in diagnosis and lack of steroid treatment.

Brief report: development of the inflammatory bowel disease family responsibility questionnaire.

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Greenley, Rachel Neff; Doughty, Alyssa; Stephens, Mike; Kugathasan, Subra

2010-03-01

To present psychometric data on youth and parent versions of the Inflammatory Bowel Disease-Family Responsibility Questionnaire (IBD-FRQ), a measure of family involvement in IBD management. Fifty-eight adolescents with inflammatory bowel disease (IBD), along with 55 mothers and 26 fathers completed the IBD-FRQ, a demographics questionnaire, and a measure of family involvement in decision making in non-IBD domains. Medical information was obtained via chart review. Support for the internal consistency of the IBD-FRQ was obtained. Evidence of validity was documented via moderate to high intercorrelations among reporters. Youth involvement increased with youth age, while maternal and paternal involvement decreased with youth age. Across all reporters, maternal involvement was higher than paternal involvement. Preliminary analyses offer support for the measure's reliability and validity. The measure shows promise as a means of assessing family involvement in IBD condition management; however, further validation studies are needed.

Identifying barriers to chronic disease reporting in Chicago Public Schools: a mixed-methods approach.

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Rivkina, Victoria; Tapke, David E; Cardenas, Lilliana D; Harvey-Gintoft, Blair; Whyte, Stephanie A; Gupta, Ruchi S

2014-12-06

Chronic disease among school-aged children is a public health concern, particularly for asthma and food allergy. In Chicago Public Schools (CPS), rates of asthma and food allergy among students are underreported. The aim of this study was to determine the barriers to chronic disease reporting as experienced by CPS parents and school nurses. A mixed-methods approach included focus groups and key informant interviews with parents and school nurses, and a cross-sectional survey was completed by parents. Qualitative data analysis was performed and survey data were analyzed to determine the significant demographic and knowledge variables associated with successfully completing the reporting process. The three main barriers identified were 1) a lack of parental process knowledge; 2) limited communication from schools; and 3) insufficient availability of school nurses. Parents were significantly more likely to successfully complete the reporting process if they knew about special accommodations for chronic diseases, understood the need for physician verification, and/or knew the school nurse. These findings suggest that increasing parental knowledge of the reporting process will allow schools to better identify and manage their students' chronic conditions. A parent-focused intervention informed by these results has been completed.

Laparoscopic colostomy for acute left colon obstruction caused by diverticular disease in high risk patient: A case report.

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Palladino, Elisa; Cappiello, Antonio; Guarino, Vincenzo; Perrotta, Nicola; Loffredo, Domenico

2015-01-01

The colostomy is often necessary in complicated divertcular disease. The laparoscopic colostomy is not widely used for the treatment of complicated diverticular disease. Its use in patients with high operative risk is still on debate. The aim of this case report was to present the benefits of laparoscopic colostomy in patients with high peri-and postoperative risk factors. We present a case of 76-year-old female admitted to emergency unit for left colonic obstruction. The patient had a past history of liver cirrhosis HCV-related with a severe malnutrition, hypertrophic cardiomyopathy, diverticular disease, hiatal ernia, previous appendectomy. Patient was classified according to their preoperative risk ASA 3 (classification of the American society of Anestesia-ASA score). Contrast-enhanced abdominal CT revealed a marked thickening in the sigmoid colon and a marked circumferential stenosis in the sigmoid colon in absence of neoplasm, and/or abscess. The laparoscopic procedure is proposed as first intention. The operation time was 50min, and the hospital stay was 4 days. Post operative complications grade I according to the Clavien Dindo Classification. Laparoscopic colostomy is safe and feasible procedure in experienced hands. It is associated with low morbidity and short stay in hospital and should be considered a good alternative to a laparotomy. Copyright © 2015 The Authors. Published by Elsevier Ltd.. All rights reserved.

[Coexisting systemic lupus erythematosus and sickle cell disease: case report and literature review].

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Robazzi, Teresa Cristina M V; Alves, Crésio; Abreu, Laís; Lemos, Gabriela

2015-01-01

To report a case of coexisting systemic lupus erythematosus (SLE) and sickle cell disease (SCD) with a review of the literature on the topic. Report of case and research of the association between SLE and SCD in literature through scientific articles in health sciences databases, such as LILACS, MEDLINE/Pubmed and Scielo, until May 2012. Descriptors used: 1. Sickle cell anemia; 2. Sickle cell disease; 3. Systemic lupus erythematosus; 4. Hemoglobinopathies. The authors describe an association between SLE and SS hemoglobinopathy in an eight-year-old female patient displaying articular, hematologic and neuropsychiatric manifestations during clinical evolution. Forty-five cases of association between SLE and SCD are described in literature, mostly adult (62.2%), women (78%) and with the SS phenotype in 78% of the cases, and different clinical manifestations. Compared with our patient, articular, hematologic and neuropsychiatric manifestations were present in 76%, 36% and 27% of the cases, respectively. SLE and SCD are chronic diseases that have several clinical and laboratory findings in common, meaning difficult diagnosis and difficulty in finding the correct treatment. Although the association between these diseases is not common, it is described in literature, so it is imperative that physicians who treat such diseases be alert to this possibility. Copyright © 2012 Elsevier Editora Ltda. All rights reserved.

Incidence, disease phenotype at diagnosis, and early disease course in inflammatory bowel diseases in Western Hungary, 2002-2006.

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Lakatos, Laszlo; Kiss, Lajos S; David, Gyula; Pandur, Tunde; Erdelyi, Zsuzsanna; Mester, Gabor; Balogh, Mihaly; Szipocs, Istvan; Molnar, Csaba; Komaromi, Erzsebet; Lakatos, Peter Laszlo

2011-12-01

Recent trends indicate a change in the epidemiology of inflammatory bowel diseases (IBD), with previously low incidence areas now reporting a progressive rise in the incidence. Our aim was to analyze the incidence and disease phenotype at diagnosis in IBD in the population-based Veszprem Province database, which included incident patients diagnosed between January 1, 2002 and December 31, 2006. Data of 393 incident patients were analyzed (ulcerative colitis [UC]: 220, age-at-diagnosis: 40.5 years; Crohn's disease [CD]: 163, age-at-diagnosis: 32.5 years; and indeterminate colitis [IC]: 10). Both hospital and outpatient records were collected and comprehensively reviewed. Adjusted mean incidence rates were 8.9/10(5) person-years for CD and 11.9/10(5) person-years in UC. Peak onset age in both CD and UC patients was 21-30 years old. Location at diagnosis in UC was proctitis in 26.8%, left-sided colitis in 50.9%, and pancolitis in 22.3%. The probability of proximal extension and colectomy after 5 years was 12.7% and 2.8%. The disease location in CD was ileal in 20.2%, colonic in 35.6%, ileocolonic in 44.2%, and upper gastrointestinal in four patients. Behavior at diagnosis was stenosing/penetrating in 35.6% and perianal in 11.1%. Patients with colonic disease were older at diagnosis compared to patients with ileal or ileocolonic disease. In a Kaplan-Meier analysis, probability of surgical resection was 9.8%, 18.5%, and 21.3% after 1, 3, and 5 years of disease duration, respectively. The incidence of IBD in Veszprem Province in the last decade was high, equal to that in high-incidence areas in Western European countries. Early disease course is milder compared to data reported in the literature. Copyright © 2011 Crohn's & Colitis Foundation of America, Inc.

Using mixed methods to investigate factors influencing reporting of livestock diseases: a case study among smallholders in Bolivia.

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Limon, Georgina; Lewis, Elisa G; Chang, Yu-Mei; Ruiz, Hugo; Balanza, Maria Elba; Guitian, Javier

2014-02-01

Livestock disease surveillance is particularly challenging in resource-scarce settings, where disease events are often unreported. Surveillance performance is determined as much by the quantifiable biological attributes of the disease, as it is by motivations and barriers perceived by livestock keepers for disease reporting. Mixed methods designs, which integrate the collection, analysis and interpretation of qualitative and quantitative data in a single study, are increasingly used across different disciplines. These designs allow for a deeper exploration of the topic under investigation, than can be achieved by either approach alone. In this study a mixed methods design was used in order to gain a greater understanding of the factors that influence reporting of livestock diseases in Bolivia. There is a need to strengthen passive surveillance in this country, among other reasons as part of an eradication programme for Foot and Mouth Disease (FMD). Findings revealed livestock keepers in the study area were extremely unlikely to report the occurrence of livestock health events to the Official Veterinary Services (OVS). Communication outside the local community occurs more often through alternative routes and this is positively correlated with disease awareness. The main barriers to disease reporting identified were a lack of institutional credibility and the conflicting priorities of the OVS and livestock keepers. As for other animal and human diseases across the developing world, passive surveillance of livestock diseases in Bolivia should be enhanced; this is urgent in view of the current FMD eradication programme. Increasing timeliness and smallholders' participation requires a detailed understanding of their likely actions and perceived barriers towards disease reporting. These insights are most likely to be developed through a holistic mixed methods approach of quantitative and qualitative analyses. Copyright © 2013 The Authors. Published by Elsevier B.V. All

[Myasthenia gravis, Graves-Basedow disease and other autoimmune diseases in patient with diabetes type 1 - APS-3 case report, therapeutic complications].

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Klenczar, Karolina; Deja, Grażyna; Kalina-Faska, Barbara; Jarosz-Chobot, Przemysława

2017-01-01

Diabetes type 1(T1D) is the most frequent form of diabetes in children and young people, which essence is autoimmune destruction of pancreatic B cells islet. Co-occurrence of other autoimmune diseases is observed in children with T1D, the most often are: Hashimoto disease or coeliac disease. We report the case of the patient, who presents coincidence of T1D with other rare autoimmune diseases such as: Graves - Basedow disease, myasthenia gravis, vitiligo and IgA deficiency. All mentioned diseases significantly complicated both endocrine and diabetic treatment of our patient and they negatively contributed her quality of life. The clinical picture of the case allows to recognize one of the autoimmune polyendocrine syndromes: APS-3 and is associated with still high risk of developing another autoimmune disease. © Polish Society for Pediatric Endocrinology and Diabetology.

Very early onset inflammatory bowel disease: Investigation of the IL-10 signaling pathway in Iranian children

NARCIS (Netherlands)

Nemati, Shahram; Teimourian, Shahram; Tabrizi, Mina; Najafi, Mehri; Dara, Naghi; Imanzadeh, Farid; Ahmadi, Mitra; Aghdam, Maryam Kazemi; Tavassoli, Mohmoud; Rohani, Pejman; Madani, Seyyed Ramin; de Boer, Martin; Kuijpers, T. W.; Roos, Dirk

2017-01-01

Background & aim: Comparing to adult inflammatory bowel disease (IBD), those with early onset manifestations have different features in terms of the underlying molecular pathology, the course of disease and the response to therapy. We investigated the IL-10 signaling pathway previously reported as

Histiocytosis versus (Hand-Schuller-Christian disease) - a case report

International Nuclear Information System (INIS)

Carneiro Filho, Jose Olimar; Leite, Marta Santos; Andrade Neto, Jose Moacyr

2002-01-01

The authors report a case of a 4-year-old girl with headache, irritability, othorrea and unilateral exophtalmus. Computed tomography and plain films showed large lytic areas in the vault and base of the skull. No other bones were involved. The diagnosis of histiocytosis X (Hand-Schuller-Christian disease) was confirmed by bone marrow biopsy. This paper presents the cytological and radiological findings of this patient as well as a review of the literature. (author)

Online surveillance of media health event reporting in Nepal: digital disease detection from a One Health perspective.

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Schwind, Jessica S; Norman, Stephanie A; Karmacharya, Dibesh; Wolking, David J; Dixit, Sameer M; Rajbhandari, Rajesh M; Mekaru, Sumiko R; Brownstein, John S

2017-09-21

Traditional media and the internet are crucial sources of health information. Media can significantly shape public opinion, knowledge and understanding of emerging and endemic health threats. As digital communication rapidly progresses, local access and dissemination of health information contribute significantly to global disease detection and reporting. Health event reports in Nepal (October 2013-December 2014) were used to characterize Nepal's media environment from a One Health perspective using HealthMap - a global online disease surveillance and mapping tool. Event variables (location, media source type, disease or risk factor of interest, and affected species) were extracted from HealthMap. A total of 179 health reports were captured from various sources including newspapers, inter-government agency bulletins, individual reports, and trade websites, yielding 108 (60%) unique articles. Human health events were reported most often (n = 85; 79%), followed by animal health events (n = 23; 21%), with no reports focused solely on environmental health. By expanding event coverage across all of the health sectors, media in developing countries could play a crucial role in national risk communication efforts and could enhance early warning systems for disasters and disease outbreaks.

Hashimoto's thyroiditis following Graves' disease.

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Umar, Husaini; Muallima, Nur; Adam, John M F; Sanusi, Harsinen

2010-01-01

Both Graves' disease and chronic thyroiditis (Hashimoto's thyroiditis) are autoimmune diseases of thyroid gland. Graves' disease is caused by stimulation of TSH receptor located on the thyroid gland by an antibody, which is known as TSH receptor antibody (TRAb). Furthermore, this may lead to hyperplasia and hyperfunction of the thyroid gland. On the contrary, the cause of Hashimoto's thyroiditis is thought due to a TSH stimulation-blocking antibody (TSBAb) which blocks the action of TSH hormone and subsequently brings damage and atrophy to thyroid gland. Approximately 15-20% of patients with Graves' disease had been reported to have spontaneous hypothyroidism resulting from the chronic thyroiditis (Hashimoto's disease). Pathogenesis for chronic thyroiditis following anti-thyroid drug treatment in patients with Graves' disease remains unclear. It has been estimated that chronic thyroiditis or Hashimoto's disease, which occurs following the Graves' disease episode is due to extended immune response in Graves' disease. It includes the immune response to endogenous thyroid antigens, i.e. thyroid peroxidase and thyroglobulin, which may enhance lymphocyte infiltration and finally causes Hashimoto's thyroiditis. We report four cases of chronic thyroiditis (Hashimoto's disease) in patients who have been previously diagnosed with Graves' hyperthyroidism. In three cases, Hashimoto's thyroiditis occurs in 7 to 25 years after the treatment of Grave's disease; while the other case has it only after few months of Grave's disease treatment. The diagnosis of Hashimoto's disease (chronic thyroiditis) was based on clinical manifestation, high TSHs level, positive thyroid peroxidase antibody and thyroglobulin antibody, and supported by positive results of fine needle aspiration biopsy. Moreover, the result of histopathological test has also confirmed the diagnosis in two cases. All cases have been successfully treated by levothyroxine treatment.

The first description of severe anemia associated with acute kidney injury and adult minimal change disease: a case report

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Qian Yimei

2009-01-01

Full Text Available Abstract Introduction Acute kidney injury in the setting of adult minimal change disease is associated with proteinuria, hypertension and hyperlipidemia but anemia is usually absent. Renal biopsies exhibit foot process effacement as well as tubular interstitial inflammation, acute tubular necrosis or intratubular obstruction. We recently managed a patient with unique clinical and pathological features of minimal change disease, who presented with severe anemia and acute kidney injury, an association not previously reported in the literature. Case presentation A 60-year-old Indian-American woman with a history of hypertension and diabetes mellitus for 10 years presented with progressive oliguria over 2 days. Laboratory data revealed severe hyperkalemia, azotemia, heavy proteinuria and progressively worsening anemia. Urine eosinophils were not seen. Emergent hemodialysis, erythropoietin and blood transfusion were initiated. Serologic tests for hepatitis B, hepatitis C, anti-nuclear antibodies, anti-glomerular basement membrane antibodies and anti-neutrophil cytoplasmic antibodies were negative. Complement levels (C3, C4 and CH50 were normal. Renal biopsy unexpectedly displayed 100% foot process effacement. A 24-hour urine collection detected 6.38 g of protein. Proteinuria and anemia resolved during six weeks of steroid therapy. Renal function recovered completely. No signs of relapse were observed at 8-month follow-up. Conclusion Adult minimal change disease should be considered when a patient presents with proteinuria and severe acute kidney injury even when accompanied by severe anemia. This report adds to a growing body of literature suggesting that in addition to steroid therapy, prompt initiation of erythropoietin therapy may facilitate full recovery of renal function in acute kidney injury.

Secondary recurrent miscarriage is associated with previous male birth.

LENUS (Irish Health Repository)

Ooi, Poh Veh

2012-01-31

Secondary recurrent miscarriage (RM) is defined as three or more consecutive pregnancy losses after delivery of a viable infant. Previous reports suggest that a firstborn male child is associated with less favourable subsequent reproductive potential, possibly due to maternal immunisation against male-specific minor histocompatibility antigens. In a retrospective cohort study of 85 cases of secondary RM we aimed to determine if secondary RM was associated with (i) gender of previous child, maternal age, or duration of miscarriage history, and (ii) increased risk of pregnancy complications. Fifty-three women (62.0%; 53\\/85) gave birth to a male child prior to RM compared to 32 (38.0%; 32\\/85) who gave birth to a female child (p=0.002). The majority (91.7%; 78\\/85) had uncomplicated, term deliveries and normal birth weight neonates, with one quarter of the women previously delivered by Caesarean section. All had routine RM investigations and 19.0% (16\\/85) had an abnormal result. Fifty-seven women conceived again and 33.3% (19\\/57) miscarried, but there was no significant difference in failure rates between those with a previous male or female child (13\\/32 vs. 6\\/25, p=0.2). When patients with abnormal results were excluded, or when women with only one previous child were considered, there was still no difference in these rates. A previous male birth may be associated with an increased risk of secondary RM but numbers preclude concluding whether this increases recurrence risk. The suggested association with previous male birth provides a basis for further investigations at a molecular level.

Secondary recurrent miscarriage is associated with previous male birth.

LENUS (Irish Health Repository)

Ooi, Poh Veh

2011-01-01

Secondary recurrent miscarriage (RM) is defined as three or more consecutive pregnancy losses after delivery of a viable infant. Previous reports suggest that a firstborn male child is associated with less favourable subsequent reproductive potential, possibly due to maternal immunisation against male-specific minor histocompatibility antigens. In a retrospective cohort study of 85 cases of secondary RM we aimed to determine if secondary RM was associated with (i) gender of previous child, maternal age, or duration of miscarriage history, and (ii) increased risk of pregnancy complications. Fifty-three women (62.0%; 53\\/85) gave birth to a male child prior to RM compared to 32 (38.0%; 32\\/85) who gave birth to a female child (p=0.002). The majority (91.7%; 78\\/85) had uncomplicated, term deliveries and normal birth weight neonates, with one quarter of the women previously delivered by Caesarean section. All had routine RM investigations and 19.0% (16\\/85) had an abnormal result. Fifty-seven women conceived again and 33.3% (19\\/57) miscarried, but there was no significant difference in failure rates between those with a previous male or female child (13\\/32 vs. 6\\/25, p=0.2). When patients with abnormal results were excluded, or when women with only one previous child were considered, there was still no difference in these rates. A previous male birth may be associated with an increased risk of secondary RM but numbers preclude concluding whether this increases recurrence risk. The suggested association with previous male birth provides a basis for further investigations at a molecular level.

Mucinous adenocarcinoma arising at the anastomotic site after operation for hirschsprung's disease: case report

International Nuclear Information System (INIS)

Kim, Hyung Soo; Yoon, Kwon Ha

2004-01-01

To our knowledge, rectal cancer arising at the anastomotic site after surgery for Hirschsprung's disease has not been reported. We report a case of mucinous adenocarcinoma arising at the anastomotic site after Soave operation 26 years ago

A case report with Weber-Christian disease which recognized interesting abdominal lesions by abdominal ultrasonography and computerized tomography

International Nuclear Information System (INIS)

Ishizuka, Jin; Chiba, Junko; Ota, Kei; Mori, Kazuo; Toyota, Takayoshi; Goto, Yoshio

1984-01-01

A 59-year-old woman who had Weber-Christian disease associated with typical histological findings such as panniculitis was reported. The patient had painful subcutaneous nodules as the first symptom. She had diabetes mellitus and rheumatoid arthritis, which are reported to be rare complications of this disease. Abdominal ultrasonography and CT scanning revealed various sized cystic lesions and masses in the tail of pancreas. These findings have not yet been reported and seems to be rare in this disease. (Namekawa, K.)

Creutzfeldt-Jakob disease: report of four cases and review of the literature.

Science.gov (United States)

Atalay, Fatma Öz; Tolunay, Şahsine; Özgün, Gonca; Bekar, Ahmet; Zarifoğlu, Mehmet

2015-01-01

Creutzfeldt-Jakob disease is a very rare, progressive neurodegenerative disorder that is incurable and always fatal. It is one of the transmissible spongiform encephalopathies caused by prions. Multiple vacuoles in neuropil and neuronal loss in the gray matter gives the classical sponge-like appearance of brain and are responsible for the typical clinical symptoms. In this report, we present 4 cases referred to the neurology department of Uludağ University with neurological symptoms. Patients were evaluated with electroencephalogram and magnetic resonance imaging, and performed brain biopsies for further investigation. For definitive diagnosis of Creutzfeldt-Jakob disease, accumulation of prion protein in brain was detected immunohistochemically. Patients died within weeks in consequence of rapid progression of the disease. Although Creutzfeldt-Jakob disease is an infrequent disorder, when a patient presents with characteristic clinical symptoms such as rapidly progressive dementia with myoclonus, the diagnosis of Creutzfeldt-Jakob disease should be taken into consideration.

Association of myasthenia gravis and Behçet's disease: A case report.

Science.gov (United States)

Kisabay, Aysin; Sari, Ummu Serpil; Boyaci, Recep; Batum, Melike; Yilmaz, Hikmet; Selcuki, Deniz

2016-01-01

Myasthenia gravis is a disease of neuromuscular junction due to auto-immune destruction of the acetylcholine receptors. Behçet's disease, on the other hand, is a multisystemic vascular-inflammatory disease. Both conditions are not common in the general population although their association has not been reported in the literature. We wanted to present our patient who developed clinical course of myasthenia gravis following discontinuation of medications due to complications of corticosteroid for Behçet's disease. It was observed that clinical findings of myasthenia gravis recovered following restarting steroid treatment and he did not experience attacks of both conditions. Although Myasthenia gravis and Behçet's disease are distinct entities clinically as well as in terms of pathogenesis, they share common physiopathological features and their treatment is based on their common features. Copyright © 2016 Polish Neurological Society. Published by Elsevier Urban & Partner Sp. z o.o. All rights reserved.

Change in Reported Lyme Disease Incidence in the Northeast and Upper Midwest, 1991-2014

Science.gov (United States)

This indicator shows how reported Lyme disease incidence has changed by state since 1991, based on the number of new cases per 100,000 people. The total change has been estimated from the average annual rate of change in each state. This map is limited to the 14 states where Lyme disease is most common, where annual rates are consistently above 10 cases per 100,000. Connecticut, New York, and Rhode Island had too much year-to-year variation in reporting practices to allow trend calculation. For more information: www.epa.gov/climatechange/science/indicators

A retrospective study of diseases in Ambystoma mexicanum: a report of 97 cases.

Science.gov (United States)

Takami, Yoshinori; Une, Yumi

2017-06-16

Ambystoma mexicanum kept as pets are affected by a variety of diseases. However, no reports regarding the incidence of specific diseases are available. This study aimed to identify the diseases that occur frequently in this species by surveying the incidence of conditions in pet A. mexicanum specimens brought to a veterinary hospital. The sample comprised 97 pet A. mexicanum individuals brought to the authors' hospital during the 82-month period, i.e., from January 2008 to October 2014. In total, 116 diseases were identified. The most common disease was hydrocoelom (32 cases; 27.5% of all cases). Elucidating the pathogenesis of hydrocoelom, which has a high prevalence rate, is vital to maintaining the long-term health of A. mexicanum pets.

Lyme Disease in West Virginia: An Assessment of Distribution and Clinicians' Knowledge of Disease and Surveillance.

Science.gov (United States)

Singh, Sarah; Parker, David; Mark-Carew, Miguella; White, Robert; Fisher, Melanie

2016-01-01

Lyme disease case misclassification, a top public health concern, may be attributed to the current disconnect between clinical diagnosis and surveillance. This study examines Lyme disease distribution in West Virginia (WV) and determines clinicians' knowledge of both disease and surveillance. Lyme disease surveillance data for 2013 were obtained from the WV Bureau for Public Health. A validated survey, distributed to clinicians at an academic medical center, assessed clinicians' knowledge of disease diagnosis and surveillance. There were 297 adult Lyme disease cases of which 83 were confirmed. Clinician survey responses resulted in a correct response rate of 70% for Lyme disease knowledge questions. Fewer than half of all clinicians were aware of the surveillance criteria for confirming Lyme disease cases. Neither medical specialty nor previous treatment of patients with Lyme disease were significantly associated with clinicians' knowledge of the disease. Clinicians in WV are familiar with symptoms and clinical management of Lyme disease. However, they are less knowledgeable about diagnosis and public health surveillance comprising reporting and confirming cases of the disease. Clinicians and public health authorities should collaborate more closely to promote education and awareness as a key step to successfully reducing the burden of Lymne disease.

Histological Changes in Autoimmune Hepatitis with Graves' Disease: A Child Case Report.

Science.gov (United States)

Yamada, Mamiko; Shibata, Hironori; Masugi, Yohei; Ishi, Tomohiro; Kameyama, Kaori; Ebinuma, Hirotoshi; Hasegawa, Tomonobu

2017-08-15

We herein report a child case of autoimmune hepatitis (AIH) accompanied with Graves' disease. Elevated aminotransferase levels were found in a 12-year-old Japanese girl with Graves' disease. In her first liver biopsy, necrosis and inflammation was limited to the centrilobular area, while the second biopsy showed different findings. Namely, portal injury newly appeared, including interface hepatitis, which represents the histological characteristics of AIH. As the histological findings at the onset of AIH do not always show typical findings, a re-biopsy is considered to be important in individuals suspected to have AIH. AIH should be included in the differential diagnosis of liver dysfunction in Graves' disease, even in children.

Osteomalacia associated with cutaneous psoriasis as the presenting feature of coeliac disease: a case report.

Science.gov (United States)

Frikha, Faten; Snoussi, Mouna; Bahloul, Zouhir

2012-01-01

Celiac disease (CD) is a chronic digestive disease that results in hypersensitivity to the gliadin fraction of Gluten. Malabsorption syndrome may be responsible for weight loss, diarrhea, osteomalacia, and vitamins deficiency. Herein we report a patient with coeliac disease (CD) who presented with osteomalacia and psoriasis without classical symptoms of CD. A 25-year-old North African Tunisian white woman was admitted to the hospital because of a 1-year history of bone pain, weight loss and weakness. She had cutaneous psoriasis on dermatologic examination. She had also anemia, hypocalcemia and pathological fracture. She was diagnosed to have osteomalacia on the basis of clinical, biological and radiological findings. Further investigations revealed the presence of antiglutaminase antibodies, and histopathologic findings of the duodenal biopsy were consistent with celiac disease. The patient showed a fast response to gluten-free diet, and full recovery with calcium and vitamin D replacement. Coeliac disease is frequently misdiagnosed leading to major complications such as osteolamacia. In the other hand, osteomalacia can still be the presenting feature of undiagnosed celiac disease. Association between osteomalacia and cutaneous psoriasis is rarely reported.

Impaired Wnt Signaling in the Prefrontal Cortex of Alzheimer's Disease

DEFF Research Database (Denmark)

Folke, Jonas; Pakkenberg, Bente; Brudek, Tomasz

2018-01-01

Wnt pathway is involved in synaptic plasticity and neuronal survival, and alterations in Wnt signaling have previously been reported both in aging and neurodegenerative diseases, including Alzheimer's disease (AD). This study sought to evaluate Wnt signaling pathway interplay integrity across......, in addition to downstream effects associated with disease progression and cognitive decline. This study is the first that comprehensively evaluates Wnt signaling pathway in the prefrontal cortical lobe structures of AD brains, in relation to age-related coordinated Wnt signaling changes. Our findings further...

Infectious diseases of afghan immigrants in the united states: review of published reports

International Nuclear Information System (INIS)

Pilsczek, F.H.

2011-01-01

Infectious diseases of immigrants may differ from patients born and resident in the same country, especially if immigrants from Africa or Asia live in Europe or North America. Because the available information is limited published reports of infections of Afghan immigrants in the United States and other countries were analysed. Four reports from the US and 15 reports from other countries were identified [7, (46.7%) Pakistan, 5 (33.3%) Iran, 1 (6.7%) United Kingdom, 1 (6.7%) Germany, 1 (6.7%) Israel)]. Reports from the US were case reports or case series of infections with gastro-intestinal parasites and Mycobacterium tuberculosis (1, 25%), Echinococcus species (2, 50%), and Plasmodium vivax (1, 25%). Reports from other countries were case reports, case series, or surveys and investigated infections with Echinococcus species (2, 13%), Hepatitis B virus (HBV) (1, 6.7%), M. tuberculosis (6, 40%), P. falciparum (1, 6.7%), Leishmania tropica (3, 20%), Fasciola hepatica (1, 6.7%), and M. leprae (1, 6.7%). The reports suggest that Echinococcus species and L. tropica infections can be encountered in Afghan immigrants in the US, and the frequency of a positive PPD (purified protein derivative) response or HBsAg test was increased. An infectious diseases database specific for the country of residence readily available to clinicians treating Afghan patients outside of Afghanistan may be useful. (author)

Dental erosion caused by gastroesophageal reflux disease: a case report.

Science.gov (United States)

Cengiz, Seda; Cengiz, M Inanç; Saraç, Y Sinasi

2009-07-22

Chronic regurgitation of gastric acids in patients with gastroesophageal reflux disease may cause dental erosion, which can lead in combination with attrition or bruxism to extensive loss of coronal tooth tissue. This clinical report describes treatment of severe tooth wear of a gastroesophageal reflux disease patient who is 54-year-old Turkish male patient. After his medical treatment, severe tooth wear, bruxism and decreased vertical dimensions were determined. The vertical dimension was re-established and maxillary and mandibular anterior and posterior teeth were prepared for metal-ceramic restorations. Metal-ceramic fixed partial dentures were fabricated as full mouth restorations for both maxillary and mandibular arches because of splinting all teeth. And then maxillary stabilization splint was fabricated for his bruxism history. Significant loss of coronal tooth structure must taken into consideration. Gastroesophageal reflux disease by itself or in combination with attrition, abrasion or bruxism may be responsible for the loss. An extensive diagnostic evaluation is essential for the medical and dental effects of the problem.

Self-reported heart disease among Arab and Chaldean American women residing in southeast Michigan.

Science.gov (United States)

Jamil, Hikmet; Fakhouri, Monty; Dallo, Florence; Templin, Thomas; Khoury, Radwan; Fakhouri, Haifa

2008-01-01

This study estimates the prevalence of heart disease among Arab and Chaldean American women and examines the association between Arab and Chaldean ethnicity and heart disease among a sample of women. This was a cross-sectional study of a convenience sample of 2084 Arab, Chaldean, and African American women aged > or = 18 years who completed a survey that was distributed at churches, mosques, and small businesses in southeast Michigans. Logistic regression was used to estimate odds ratios and 95% confidence intervals for the association between ethnicity and self-reported heart disease before and after adjusting for demographic, socioeconomic status, health care, chronic conditions, and health behavior variables. A sample of 2084 Arab, Chaldean, and African American women 18 years of age and older. The overall prevalence of heart disease was 5.1%. Estimates were higher for Arabs (7.1%), lower for Chaldeans (6.6%), and lowest among African Americans (1.8%). In the unadjusted model, Chaldeans and Arabs were four times more likely to have heart disease than were African Americans. However, in the fully adjusted model, the association between Chaldean or Arab ethnicity and heart disease was no longer statistically significant. Arab or Chaldean ethnicity was not significantly associated with self-reported heart disease among women, which suggests that other factors account for this relationship. Future studies should collect more detailed socioeconomic status, acculturation, and health behavior information.

MR findings in acute Lyme disease affecting the knee. A case report

International Nuclear Information System (INIS)

Cavallaro, A.; Harrer, T.; Richter, H.; Bautz, W.; Fellner, F.A.

2002-01-01

In this paper we report a case with primarily unspecific arthralgia after surgical therapy of hallux valgus deformity and consecutive reflex sympathetic dystrophy in which MR led to the diagnosis of Lyme disease. (orig.)

MR findings in acute Lyme disease affecting the knee. A case report

Energy Technology Data Exchange (ETDEWEB)

Cavallaro, A.; Harrer, T.; Richter, H.; Bautz, W.; Fellner, F.A. [Friedrich-Alexander-Univ., Erlangen-Nuernberg (Germany)

2002-07-01

In this paper we report a case with primarily unspecific arthralgia after surgical therapy of hallux valgus deformity and consecutive reflex sympathetic dystrophy in which MR led to the diagnosis of Lyme disease. (orig.)

Association of congenit anomalia anus rectal with Hirschsprung's disease: a case report

International Nuclear Information System (INIS)

Abbud, E.A.; Sales, C.R.V. de; Goncalves, E.G.

1989-01-01

The recognition of Hirschsprung's disease is often delayed in children with imperforated anus. Because of this rare association, it is reported one case in which its occurred in conjunction with Down's syndrome. (author) [pt

Under-reporting of Adverse Events in the Biomedical Literature

Directory of Open Access Journals (Sweden)

Ronald N. Kostoff

2016-11-01

Full Text Available Purpose: To address the under-reporting of research results, with emphasis on the underreporting/distorted reporting of adverse events in the biomedical research literature. Design/methodology/approach: A four-step approach is used:(1 To identify the characteristics of literature that make it adequate to support policy; (2 to show how each of these characteristics becomes degraded to make inadequate literature; (3 to identify incentives to prevent inadequate literature; and (4 to show policy implications of inadequate literature. Findings: This review has provided reasons for, and examples of, adverse health effects of myriad substances (1 being under-reported in the premiere biomedical literature, or (2 entering this literature in distorted form. Since there is no way to gauge the extent of this under/distorted-reporting, the quality and credibility of the ‘premiere’ biomedical literature is unknown. Therefore, any types of meta-analyses or scientometric analyses of this literature will have unknown quality and credibility. The most sophisticated scientometric analysis cannot compensate for a highly flawed database. Research limitations: The main limitation is in identifying examples of under-reporting. There are many incentives for under-reporting and few dis-incentives. Practical implications: Almost all research publications, addressing causes of disease, treatments for disease, diagnoses for disease, scientometrics of disease and health issues, and other aspects of healthcare, build upon previous healthcare-related research published. Many researchers will not have laboratories or other capabilities to replicate or validate the published research, and depend almost completely on the integrity of this literature. If the literature is distorted, then future research can be misguided, and health policy recommendations can be ineffective or worse. Originality/value: This review has examined a much wider range of technical and nontechnical

Prospective evaluation of patient-reported quality-of-life outcomes following SBRT ± cetuximab for locally-recurrent, previously-irradiated head and neck cancer

International Nuclear Information System (INIS)

Vargo, John A.; Heron, Dwight E.; Ferris, Robert L.; Rwigema, Jean-Claude M.; Wegner, Rodney E.; Kalash, Ronny; Ohr, James; Kubicek, Greg J.; Burton, Steven

2012-01-01

Purpose: Stereotactic body radiotherapy (SBRT) has emerged as a promising salvage strategy for unresectable, previously-irradiated recurrent squamous cell carcinomas of the head and neck (rSCCHN). Here-in, we report the first prospective evaluation of patient-reported quality-of-life (PR-QoL) following re-irradiation with SBRT ± cetuximab for rSCCHN. Materials and methods: From November 2004 to May 2011, 150 patients with unresectable, rSCCHN in a previously-irradiated field receiving >40 Gy were treated with SBRT to 40–50 Gy in 5 fractions ± concurrent cetuximab. PR-QoL was prospectively acquired using University of Washington Quality-of-Life Revised (UW-QoL-R). Results: Overall PR-QoL, health-related PR-QoL, and select domains commonly affected by re-irradiation progressively increase following an initial 1-month decline with statistically significant improvements noted in swallowing (p = 0.025), speech (p = 0.017), saliva (p = 0.041), activity (p = 0.032) and recreation (p = 0.039). Conclusions: Especially for patients surviving >1-year, improved tumor control associated with SBRT re-irradiation may ameliorate decreased PR-QoL resulting from rSCCHN. These improvements in PR-QoL transcend all measured domains in a validated PR-QoL assessment tool independent of age, use of cetuximab, tumor volume, and interval since prior irradiation.

Alexander's disease in a neurologically normal child: a case report

International Nuclear Information System (INIS)

Guthrie, Scott O.; Knowles, Paul; Marshall, Robert; Burton, Edward M.

2003-01-01

We report the clinical and MRI findings of symmetric hyperintensity involving the deep and subcortical white matter of the frontal lobes in a neurologically normal child with macrocephaly. In this patient, a serum test for mutations in glial fibrillary acidic protein, used to diagnose Alexander's disease (AD), was positive. This case indicates an extraordinarily mild or early form of juvenile-onset AD. (orig.)

Successful birth of an IVF baby in a patient with Parkinson′s disease

Directory of Open Access Journals (Sweden)

Asha Baxi

2010-01-01

Full Text Available Parkinson′s disease, although rare in young patients, may be encountered in the reproductive age group. We report a rare combination of this disease with infertility, which has not been previously reported. The case record of a 29-year-old woman with infertility and Parkinson′s disease are retrospectively reviewed. An IVF indicated for tubal factor infertility resulted in a successful singleton pregnancy. She delivered a healthy male baby without experiencing any worsening of her Parkinsonism. The course of pregnancy remained unaffected by the Parkinson′s disease and anti-Parkinsonian drugs. The details of the infertility management, antenatal and postnatal course, and medications are described. With careful evaluation, counseling, and monitoring, IVF may be safely used in women with Parkinson′s disease.

Rationale for Using Social Media to Collect Patient-Reported Outcomes in Patients with Celiac Disease.

Science.gov (United States)

Park, Kt; Harris, Merissa; Khavari, Nasim; Khosla, Chaitan

2014-02-01

Patients with celiac disease (CD) are increasingly interconnected through social media, exchanging patient experiences and health-tracking information between individuals through various web-based platforms. Social media represents potentially unique communication interface between gastroenterologists and active social media users - especially young adults and adolescents with celiac disease-regarding adherence to the strict gluten-free diet, gastrointestinal symptoms, and meaningful discussion about disease management. Yet, various social media platforms may be underutilized for research purposes to collect patient-reported outcomes data. In this commentary, we summarize the scientific rationale and potential for future growth of social media in patient-reported outcomes research, focusing on college freshmen with celiac disease as a case study and provide overview of the methodological approach. Finally, we discuss how social media may impact patient care in the future through increasing mobile technology use.

A rare association of celiac disease and aplastic anemia: case report of a child and review of literature.

Science.gov (United States)

Badyal, Rama Kumari; Sachdeva, Man Updesh Singh; Varma, Neelam; Thapa, Babu Ram

2014-01-01

An association between severe aplastic anemia and other autoimmune diseases is rare and has been described in adults for eosinophilic fasciitis, thymomas, systemic lupus erythematosus, and thyroid disorders. Herein we report a patient with celiac disease who was not strictly following a gluten-free diet and presented with progressive pallor, fever, and weakness of 1 month's duration. On investigation, he had pancytopenia, which on subsequent evaluation revealed aplastic anemia. An association between aplastic anemia and celiac disease has rarely been reported. To the best of author's knowledge, only 1 pediatric case of celiac disease associated with aplastic anemia has been published. This is the second report to suggest such an association in children.

Eight previously unidentified mutations found in the OA1 ocular albinism gene

Directory of Open Access Journals (Sweden)

Dufier Jean-Louis

2006-04-01

Full Text Available Abstract Background Ocular albinism type 1 (OA1 is an X-linked ocular disorder characterized by a severe reduction in visual acuity, nystagmus, hypopigmentation of the retinal pigmented epithelium, foveal hypoplasia, macromelanosomes in pigmented skin and eye cells, and misrouting of the optical tracts. This disease is primarily caused by mutations in the OA1 gene. Methods The ophthalmologic phenotype of the patients and their family members was characterized. We screened for mutations in the OA1 gene by direct sequencing of the nine PCR-amplified exons, and for genomic deletions by PCR-amplification of large DNA fragments. Results We sequenced the nine exons of the OA1 gene in 72 individuals and found ten different mutations in seven unrelated families and three sporadic cases. The ten mutations include an amino acid substitution and a premature stop codon previously reported by our team, and eight previously unidentified mutations: three amino acid substitutions, a duplication, a deletion, an insertion and two splice-site mutations. The use of a novel Taq polymerase enabled us to amplify large genomic fragments covering the OA1 gene. and to detect very likely six distinct large deletions. Furthermore, we were able to confirm that there was no deletion in twenty one patients where no mutation had been found. Conclusion The identified mutations affect highly conserved amino acids, cause frameshifts or alternative splicing, thus affecting folding of the OA1 G protein coupled receptor, interactions of OA1 with its G protein and/or binding with its ligand.

Detecting, reporting, and analysis of priority diseases for routine public health surveillance in Liberia.

Science.gov (United States)

Frimpong, Joseph Asamoah; Park, Meeyoung Mattie; Amo-Addae, Maame Pokuah; Adewuyi, Peter Adebayo; Nagbe, Thomas Knue

2017-01-01

An essential component of a public health surveillance system is its ability to detect priority diseases which fall within the mandate of public health officials at all levels. Early detection, reporting and response to public health events help to reduce the burden of mortality and morbidity on communities. Analysis of reliable surveillance data provides relevant information which can enable implementation of timely and appropriate public health interventions. To ensure that a resilient system is in place, the World Health Organization (WHO) has provided guidelines for detection, reporting and response to public health events in the Integrated Disease Surveillance and Response (IDSR) strategy. This case study provides training on detection, reporting and analysis of priority diseases for routine public health surveillance in Liberia and highlights potential errors and challenges which can hinder effective surveillance. Table-top exercises and group discussion lead participants through a simulated verification and analyses of summary case reports in the role of the District Surveillance Officer. This case study is intended for public health training in a classroom setting and can be accomplished within 2 hours 30 minutes. The target audience include residents in Frontline Epidemiology Training Programs (FETP-Frontline), Field Epidemiology and Laboratory Training Programs (FELTPs), and others who are interested in this topic.

Diseases and treatment reported by shrimp and tilapia farmers in Guangdong Province, China

DEFF Research Database (Denmark)

Li, Kang; Liu, Liping; Clausen, Jesper Hedegaard

chemicals are used to prevent and control diseases and manage pond environments. This questionnaire-based interview study with aquaculture farmers aimed to describe disease management practices and chemical usage patterns by farmers. Tilapia grow-out farmers (25) mainly reported streptococcosis (9...... for disease treatment. Tilapia and shrimp farmers obtained more and more technical service from staff in chemical shops, chemical and feed companies on diagnosing and treatment of diseases, and acquired information about prudent and safe application practices of chemicals more easily from different pathways...... in recent years. However, many farmers from small family farms still mainly relied on their own experiences. The study shows the improving in aquaculture practicing in China, but still an urgent need to increase farmer’s knowledge on how to prevent and control diseases and use chemicals, including...

Thyrotropin-producing pituitary adenoma simultaneously existing with Graves' disease: a case report.

Science.gov (United States)

Arai, Nobuhiko; Inaba, Makoto; Ichijyo, Takamasa; Kagami, Hiroshi; Mine, Yutaka

2017-01-06

Thyrotropin-producing pituitary tumor is relatively rare. In particular, concurrent cases associated with Graves' disease are extremely rare and only nine cases have been reported so far. We describe a case of a thyrotropin-producing pituitary adenoma concomitant with Graves' disease, which was successfully treated. A 40-year-old Japanese woman presented with mild signs of hyperthyroidism. She had positive anti-thyroid-stimulating hormone receptor antibody, anti-thyroglobulin antibody, and anti-thyroid peroxidase antibody. Her levels of serum thyroid-stimulating hormone, which ranged from low to normal in the presence of high levels of serum free thyroid hormones, were considered to be close to a state of syndrome of inappropriate secretion of thyroid-stimulating hormone. Magnetic resonance imaging showed a macropituitary tumor. The coexistence of thyrotropin-producing pituitary adenoma and Graves' disease was suspected. Initial therapy included anti-thyroid medication, which was immediately discontinued due to worsening symptoms. Subsequently, surgical therapy for the pituitary tumor was conducted, and her levels of free thyroid hormones, including the thyroid-stimulating hormone, became normal. On postoperative examination, her anti-thyroid-stimulating hormone receptor antibody levels decreased, and the anti-thyroglobulin antibody became negative. The coexistence of thyrotropin-producing pituitary adenoma and Graves' disease is rarely reported. The diagnosis of this condition is complicated, and the appropriate treatment strategy has not been clearly established. This case suggests that physicians should consider the coexistence of thyrotropin-producing pituitary adenoma with Graves' disease in cases in which thyroid-stimulating hormone values range from low to normal in the presence of thyrotoxicosis, and the surgical treatment of thyrotropin-producing pituitary adenoma could be the first-line therapy in patients with both thyrotropin-producing pituitary adenoma

An uncommon presentation of Kikuchi Fujimoto disease: a case report with literature review.

Science.gov (United States)

Ranabhat, Sabin; Tiwari, Mamta; Kshetri, Jiwan; Maharjan, Sushna; Osti, Bidur Prasad

2015-09-26

Kikuchi-Fujimoto disease is so named because Kikuchi and Fujimoto were the first scientists to describe it in Japan in 1972. Although the disease has been reported from all over the world and more so from Asia, it is rare. To date only eight cases have been reported from Nepal. Cervical lymphadenopathy, fever and raised Erythrocyte Sedimentation Rate are usual presenting features of this disease. We describe a case which presented with thrombocytopenia and axillary lymphadenopathy in addition to the usual features. Out of the total eight cases that have been reported from Nepal so far, no patients had thrombocytopenia and only one patient had axillary lymphadenopathy. A 24-year-old Nepali female presented with a 3-week history of low-grade fever, headache, and painful, discrete, unilateral left-sided cervical and axillary lymphadenopathy. Among the multitude of tests that were carried out, Erythrocyte Sedimentation Rate was raised and there was thrombocytopenia while other tests were normal. Painful lymphadenopathy pointed to bacterial lymphadenitis while chronic low-grade fever suggested tuberculosis. A cervical lymph node was excised for histopathological examination to reach an accurate diagnosis. On the basis of pathognomonic features viz., paracortical foci composed of various types of histiocytes including crescentic type in the background of abundant apoptotic karyorrhectic debris, a diagnosis of Kikuchi-Fujimoto disease was made. On follow-up evaluation after 6 weeks, the patient had no systemic symptoms, enlarged lymph nodes had regressed in size significantly, and Erythrocyte Sedimentation Rate and platelet count had become normal. Kikuchi-Fujimoto disease should be kept in the differential diagnosis of lymphadenopathy in young patients, female or male even in tuberculosis-endemic countries and even in patients who have unusual features; for example thrombocytopenia and involvement of axillary lymph nodes in addition to cervical lymph nodes as in this

Syngeneic graft-versus-host disease: a report of two cases and literature review.

Science.gov (United States)

Latif, T; Pohlman, B; Kalaycio, M; Sobecks, R; Hsi, E D; Andresen, S; Bolwell, B J

2003-09-01

Rappeport et al first reported the clinical syndrome of graft-versus-host disease (GVHD) in syngeneic bone marrow transplant patients. Recently, there have been more reports of a GVHD-like syndrome in syngeneic bone marrow transplant patients (SGVHD) that may result in significant clinical morbidity. A total of 17 cases of SGVHD in syngeneic bone marrow transplant patients have been reported to date in the medical literature. The current report reviews these cases and presents two additional cases of severe SGVHD that have occurred at our institution.

An overview of bacterial diseases of the most important agricultural crops in Nepal

OpenAIRE

Lamichhane, Jay Ram; Balestra, Giorgio M.; Mazzaglia, Angelo; Kshetri, MB; Varvaro, Leonardo

2011-01-01

Several surveys were carried out during three consecutive years (2007-2009) on the major crops cultivated in different districts of Nepal, in order to verify the possible presence of diseases caused by bacteria. The monitoring was carried out twice a year, in spring and autumn. During the survey we observed a wide range of bacterial diseases of plants. Most of the diseases were observed for the first time while others had been reported previously. Among the bacterial diseases observed for the...

Haemophilus influenzae type f meningitis in a previously healthy boy

DEFF Research Database (Denmark)

Ronit, Andreas; Berg, Ronan M G; Bruunsgaard, Helle

2013-01-01

Non-serotype b strains of Haemophilus influenzae are extremely rare causes of acute bacterial meningitis in immunocompetent individuals. We report a case of acute bacterial meningitis in a 14-year-old boy, who was previously healthy and had been immunised against H influenzae serotype b (Hib...

Metachronous Paget's disease of the breast: case report.

Science.gov (United States)

Gubitosi, A; Moccia, G; Malinconico, F A; Iside, G; Gilio, F; Cognetti, C; Foroni, F; Docimo, G; Ruggiero, R; Docimo, L; Agresti, M

2009-04-01

Paget breast disease is a kind of intraductal carcinoma that through an intracanalicular diffusion invades the basal epidermal layer, reaching the areola and nipple, producing a typical erythematous desquamative eczematous-like lesion. This neoplasia can remain undetected for a long time and inadequately treated as a dermatological affection. Synchronous or metachronous lesions are very uncommon. Surgical choice is conditioned by the presence of a tumor below the epidermal lesion, by its dimensions, and by the possible lymph node involvement. Surgical therapy can be radical or conservative. From our experience we think that lesion biopsy is always necessary to formulate a correct diagnosis and to schedule an appropriate therapeutic approach. In our case, a biopsy was performed first, then on the basis of the frozen section analysis a radical mastectomy with axillary third level lymph nodes dissection, because of the large dimensions of the lesion and the previous history of a methachronous lesion.

Type 1 diabetes mellitus, coeliac disease, and lymphoma: a report of four cases.

LENUS (Irish Health Repository)

O'Connor, T M

2012-02-03

INTRODUCTION: Patients with Type 1 diabetes mellitus have a high prevalence of coeliac disease, symptoms of which are often mild, atypical, or absent. Untreated coeliac disease is associated with an increased risk of malignancy, particularly of lymphoma. We describe four patients with Type 1 diabetes mellitus and coeliac disease who developed lymphoma. CASE REPORTS: Two patients were male and two female. In three patients, coeliac disease and lymphoma were diagnosed simultaneously. Enteropathy-associated T cell lymphoma occurred in two patients, Hodgkin\\'s disease in one, and B cell lymphoma in one. Response to treatment was in general poor, and three patients died soon after the diagnosis of lymphoma was made. CONCLUSION: As the relative risk of lymphoma is reduced by a gluten-free diet, a high index of suspicion for coeliac disease should exist in all Type 1 diabetic patients with unexplained constitutional or gastrointestinal symptoms.

Diffuse reticuloendothelial system involvement in type IV glycogen storage disease with a novel GBE1 mutation: a case report and review.

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Magoulas, Pilar L; El-Hattab, Ayman W; Roy, Angshumoy; Bali, Deeksha S; Finegold, Milton J; Craigen, William J

2012-06-01

Glycogen storage disease type IV is a rare autosomal recessive disorder of glycogen metabolism caused by mutations in the GBE1 gene that encodes the 1,4-alpha-glucan-branching enzyme 1. Its clinical presentation is variable, with the most common form presenting in early childhood with primary hepatic involvement. Histologic manifestations in glycogen storage disease type IV typically consist of intracytoplasmic non-membrane-bound inclusions containing abnormally branched glycogen (polyglucosan bodies) within hepatocytes and myocytes. We report a female infant with classic hepatic form of glycogen storage disease type IV who demonstrated diffuse reticuloendothelial system involvement with the spleen, bone marrow, and lymph nodes infiltrated by foamy histiocytes with intracytoplasmic polyglucosan deposits. Sequence analysis of the GBE1 gene revealed compound heterozygosity for a previously described frameshift mutation (c.1239delT) and a novel missense mutation (c.1279G>A) that is predicted to alter a conserved glycine residue. GBE enzyme analysis revealed no detectable activity. A review of the literature for glycogen storage disease type IV patients with characterized molecular defects and deficient enzyme activity reveals most GBE1 mutations to be missense mutations clustering in the catalytic enzyme domain. Individuals with the classic hepatic form of glycogen storage disease type IV tend to be compound heterozygotes for null and missense mutations. Although the extensive reticuloendothelial system involvement that was observed in our patient is not typical of glycogen storage disease type IV, it may be associated with severe enzymatic deficiency and a poor outcome. Copyright © 2012 Elsevier Inc. All rights reserved.

Episodic memory impairment in Addison's disease: results from a telephonic cognitive assessment.

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Henry, Michelle; Thomas, Kevin G F; Ross, Ian L

2014-06-01

Patients with Addison's disease frequently self-report memory and attention difficulties, even when on standard replacement therapy. However, few published studies examine, using objective measures and assessing across multiple domains, the cognitive functioning of Addison's disease patients relative to healthy controls. The primary aim of this study was to investigate whether the previously reported subjective cognitive deficits in Addison's disease are confirmed by objective measures. Conducting comprehensive neuropsychological assessments of patients with relatively rare clinical disorders, such as Addison's disease, is challenging because access to those patients is often limited, and because their medical condition might prevent extended testing sessions. Brief telephonic cognitive assessments are a useful tool in such circumstances. Hence, we administered the Brief Test of Adult Cognition by Telephone to 27 Addison's disease patients and 27 matched healthy controls. The instrument provides objective assessment of episodic memory, working memory, executive functioning, reasoning, and speed of processing. Statistical analyses confirmed that, as expected, patients performed significantly more poorly than controls on the episodic memory subtest. There were, however, no significant between-group differences on the attention, executive functioning, reasoning, and speed of processing subtests. Furthermore, patients with a longer duration of illness performed more poorly across all domains of cognition. We conclude that, for Addison's disease patients, previously reported subjective cognitive deficits are matched by objective impairment, but only in the domain of episodic memory. Future research might investigate (a) whether these memory deficits are material-specific (i.e., whether non-verbal memory is also affected), and (b) the neurobiological mechanisms underlying these deficits.

A cross-sectional study of self-reported general health, lifestyle factors, and disease: the Hordaland Health Study

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Randi Jepsen

2014-10-01

Full Text Available Background. Information on self-reported health is important for health professionals, and the aim of this study was to examine associations between lifestyle factors and self-reported health and the mediating effect of disease in a Norwegian population.Methods and Materials. The data collection was conducted as part of the Hordaland Health Study (HUSK 1997–99, which was a cross-sectional epidemiological study. All individuals in Hordaland county born in 1953–1957 were invited to participate (aged 40–44 years. Complete information for the present study was obtained from 12,883 individuals (44% response rate. Height and weight were measured at a physical examination. Information on lifestyle factors, self-reported health, disease (heart attack, apoplexy, angina pectoris, and diabetes, and socio-demographic variables was obtained from a self-administered questionnaire. Self-reported health was measured with a one-item question. Odds ratios for fair or poor self-reported health were calculated using multiple logistic regression analyses adjusted for disease and socio-demographic variables.Results. Respondents reporting adverse lifestyle behaviours (obesity (odds ratio (OR 1.7, p < 0.001, smoking (OR 1.2, p < 0.001, or excessive intake of alcohol (OR 3.3, p < 0.001 showed an increased risk of poor self-reported health. Furthermore, a moderate intake of wine (OR 0.6, p < 0.001 or strenuous physical activity (OR 0.5, p < 0.001 decreased the risk of poor health. Disease did not mediate the effect.Conclusion. A one-item question measuring self-reported health may be a suitable measure for health professionals to identify levels of subjective health and reveal a need to target lifestyle factors in relatively young individuals with or without disease.

Madelung's disease: a case report and literature review

Energy Technology Data Exchange (ETDEWEB)

Vidal, Maria da Graca Caminha; Londero, Thiza Massaia [Universidade Federal de Santa Maria (UFSM), RS (Brazil); Haygert, Carlos Jesus Pereira; Zagoury, Andre Rivas [Universidade Federal de Santa Maria (UFSM), RS (Brazil). Hospital Universitario; Adaime, Samia Braga Ramos, E-mail: sbra5@hotmail.co [Hospital Orencio Freitas, Niteroi, RJ (Brazil); Carrion, Rodrigo Previdello [Hospital de Clinicas de Porto Alegre, RS (Brazil)

2010-07-15

The authors report the case of a patient with Madelung's disease, which is clinically described as the presence of multiple and symmetric non-encapsulated masses of fatty tissue, usually involving the neck and the upper region of the trunk. Computed tomography was selected as the imaging method for diagnosis confirmation, considering its lower cost and higher availability as compared with magnetic resonance imaging. (author)

[Adult-onset Still's disease with pulmonary and cardiac involvement and response to intravenous immunoglobulin].

Science.gov (United States)

Neto, Nilton Salles Rosa; Waldrich, Leandro; de Carvalho, Jozélio Freire; Pereira, Rosa Maria Rodrigues

2009-01-01

Cardiopulmonary manifestations of adult-onset Still's disease (AOSD) include pericarditis, pleural effusion, transient pulmonary infiltrates, pulmonary interstitial disease and myocarditis. Serositis are common but pneumonitis and myocarditis are not and bring elevated risk of mortality. They may manifest on disease onset or flares. Previously reported cases were treated with high-dose glucocorticoids and immunosupressants and, when refractory, intravenous immunoglobulin (IVIG). We report an AOSD patient whose flare presented with severe pleupneumonitis and myopericarditis and, following nonresponse to a methylprednisolone pulse, high dose of prednisone and cyclosporine A, recovered after a 2-day 1g/kg/day IVIG infusion.

Postural instability in subjects with Parkinson's disease undergoing different sensory pitfalls

NARCIS (Netherlands)

Silva, Thaís Cardoso Da; Felippe, Lilian Assunção; Carregaro, Rodrigo Luiz; Christofoletti, Gustavo

2017-01-01

Purpose. Previous research has reported postural instability in subjects with Parkinson's disease (PD). However, there are still doubts about the effect of sensory stimuli on one's balance. In this study, we further investigated the stabilometric measures of individuals with PD, analysing the impact

Postural instability in subjects with Parkinson's disease undergoing different sensory pitfalls

NARCIS (Netherlands)

Silva, Thaís Cardoso Da; Felippe, Lilian Assunção; Carregaro, Rodrigo Luiz; Christofoletti, Gustavo

2018-01-01

Purpose. Previous research has reported postural instability in subjects with Parkinson's disease (PD). However, there are still doubts about the effect of sensory stimuli on one's balance. In this study, we further investigated the stabilometric measures of individuals with PD, analysing the impact

Celiac disease symptoms in a female collegiate tennis player: a case report.

Science.gov (United States)

Leone, James E; Gray, Kimberly A; Massie, John E; Rossi, Jennifer M

2005-01-01

To present the case of a collegiate tennis player with celiac disease symptoms. Celiac disease is a common intestinal disorder that is often confused with other conditions. It causes severe intestinal damage manifested by several uncomfortable signs and symptoms. Failure by the sports medicine staff to recognize symptoms consistent with celiac disease and treat them appropriately can have deleterious consequences for the athlete. Irritable bowel syndrome, Crohn disease, Addison disease, lupus erythematosus, juvenile rheumatoid arthritis, lactose intolerance, herpes zoster, psychogenic disorder (depression), fibromyalgia, complex regional pain syndrome, hyperthyroidism, anemia, type I diabetes. The athlete underwent a series of blood and allergen tests to confirm or refute a diagnosis of celiac disease. When celiac disease was suspected, dietary modifications were made to eliminate all wheat-based and gluten-based products from the athlete's diet. The athlete was able to fully compete in a competitive National Collegiate Athletic Association Division I tennis program while experiencing the debilitating effects associated with celiac disease. The immediacy of symptom onset was notable because the athlete had no history of similar complaints. Celiac disease is a potentially life-threatening condition that affects more people than reported. A properly educated sports medicine staff can help to identify symptoms consistent with celiac disease early, so damage to the intestine is minimized. Prompt recognition and appropriate management allow the athlete to adjust the diet accordingly, compete at a high-caliber level, and enjoy a healthier quality of life.

Primary Small Cell Neuroendocrine Carcinoma of Vagina: A Rare Case Report

Directory of Open Access Journals (Sweden)

Jignasa N. Bhalodia

2011-01-01

Full Text Available Primary small cell neuroendocrine carcinoma of vagina is an extremely rare disease. There have been only 26 previously reported cases in literature. Here, we report a case of primary small cell neuroendocrine carcinoma of vagina. Immunohistochemistry (IHC showed tumor cells positive for synaptophysin, chromogranin, and neuron-specific enolase (NSE.

MIXED HYALINE VASCULAR AND PLASMA CELL TYPE CASTLEMAN’S DISEASE: REPORT OF A CASE

Directory of Open Access Journals (Sweden)

F. Asgarani

2006-05-01

Full Text Available Castleman’s disease (angiofollicular lymphoid hyperplasia includes a heterogeneous group of lymphoproliferative disorders. The cause of this disease remains uncertain. There are two types of localized Castleman’s disease: the more common hyaline vascular and the plasma cell types. Mixed variant is an uncommon localized lesion in general population. The lesions can occur in any part of the body that contains lymphoid tissue, although seventy percent are found in the anterior mediastinum. We report a thirty years old boy with Castleman’s disease who presented with fever, anorexia, weight loss,sweating, anemia and abdominal mass. The histologic examination of the biopsy specimens revealed a mixed hyaline vascular and plasma cell type of Castleman’s disease.

Exposure to mobile phone radiation opens new horizons in Alzheimer's disease treatment.

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Mortazavi, Sar; Shojaei-Fard, Mb; Haghani, M; Shokrpour, N; Mortazavi, Smj

2013-09-01

Alzheimer's disease, the most common type of dementia and a progressive neurodegenerative disease, occurs when the nerve cells in the brain die. Although there are medications that can help delay the development of Alzheimer's disease, there is currently no cure for this disease. Exposure to ionizing and non-ionizing radiation may cause adverse health effects such as cancer.  Looking at the other side of the coin, there are reports indicating stimulatory or beneficial effects after exposure to cell phone radiofrequency radiation. Mortazavi et al. have previously reported some beneficial cognitive effects such as decreased reaction time after human short-term exposure to cell phone radiation or occupational exposure to radar microwave radiation. On the other hand, some recent reports have indicated that RF radiation may have a role in protecting against cognitive impairment in Alzheimer's disease. Although the majority of these data come from animal studies that cannot be easily extrapolated to humans, it can be concluded that this memory enhancing approach may open new horizons in treatment of cognitive impairment in Alzheimer disease.

An initial report of sleep disturbance in inactive inflammatory bowel disease.

Science.gov (United States)

Keefer, Laurie; Stepanski, Edward J; Ranjbaran, Ziba; Benson, Laura M; Keshavarzian, Ali

2006-10-15

There is an increased prevalence of gastrointestinal symptoms, peptic ulcer disease, and colon cancer in night-shiftworkers, whose sleep is commonly disrupted. Sleep complaints are an extrapyramidal symptom of irritable bowel syndrome (IBS). Sleep disruption may contribute to increased medical morbidity by weakening the ability of the immune system to protect against endotoxins-this pathway could be of potential importance to the pathogenesis and/or clinical course of inflammatory bowel disease (IBD), a chronic immunoinflammatory gastrointestinal disorder associated with marked reductions in quality of life. This is the first study to comprehensively examine sleep concerns in patients with IBD. Sixteen patients with biopsy-proven inactive IBD (8 with Crohn disease and 8 with ulcerative colitis), 9 patients with IBS, and 7 healthy controls completed the Pittsburgh Sleep Quality Index, Epworth Sleepiness Scale, Inflammatory Bowel Disease Questionnaire, SF-12, and a single overnight polysomnogram. Polysomnography and arousals were scored according to standard criteria. Multivariate analyses were used to compare subjective and objective sleep parameters between groups and to identify associations between sleep complaints and quality of life. Patients with IBD did not seem to significantly differ from patients with IBS, who have established sleep complaints. On polysomnography, total sleep time differentiated the 3 groups well, with the IBS and IBD groups appearing numerically similar. Whereas IBS and IBD groups were similar with respect to observed sleep parameters, IBS patients did report the most concerns, consistent with earlier research suggesting that hyperarousal and perceptual differences may contribute to symptom reporting. Sleep parameters greatly influenced quality of life in both groups and highlight the need to address sleep concerns as part of IBD management.