Morbus Wilson: Case report of a two-year-old child as first manifestation.

PubMed

Beyersdorff, Anke; Findeisen, Annette

2006-04-01

Morbus Wilson, or Wilson's disease, is a genetic disease of copper metabolism. Usually the disease is detected when the first clinical symptoms appear, generally not before 5 years of age. This case report shows that the disease can be detected much earlier if abnormal laboratory findings in the patient's history prompt further investigations.

Spatial Risk Assessments Based on Vector-Borne Disease Epidemiologic Data: Importance of Scale for West Nile Virus Disease in Colorado

PubMed Central

Winters, Anna M.; Eisen, Rebecca J.; Delorey, Mark J.; Fischer, Marc; Nasci, Roger S.; Zielinski-Gutierrez, Emily; Moore, Chester G.; Pape, W. John; Eisen, Lars

2010-01-01

We used epidemiologic data for human West Nile virus (WNV) disease in Colorado from 2003 and 2007 to determine 1) the degree to which estimates of vector-borne disease occurrence is influenced by spatial scale of data aggregation (county versus census tract), and 2) the extent of concordance between spatial risk patterns based on case counts versus incidence. Statistical analyses showed that county, compared with census tract, accounted for approximately 50% of the overall variance in WNV disease incidence, and approximately 33% for the subset of cases classified as West Nile neuroinvasive disease. These findings indicate that sub-county scale presentation provides valuable risk information for stakeholders. There was high concordance between spatial patterns of WNV disease incidence and case counts for census tract (83%) but not for county (50%) or zip code (31%). We discuss how these findings impact on practices to develop spatial epidemiologic data for vector-borne diseases and present data to stakeholders. PMID:20439980

Natural history and clinical detection of undiagnosed coeliac disease in a North American community.

PubMed

Hujoel, I A; Van Dyke, C T; Brantner, T; Larson, J; King, K S; Sharma, A; Murray, J A; Rubio-Tapia, A

2018-05-01

Coeliac disease is a substantially underdiagnosed disorder, with clinical testing currently guided by case finding. To determine the presence of indications for diagnostic testing and frequency of clinical testing in undiagnosed coeliac disease. This was a case-control study of adults without prior diagnosis of coeliac disease. Undiagnosed cases were identified through sequential serology, and unaffected age- and gender-matched controls were selected. Medical records were systematically reviewed for indications for and evidence of clinical testing. Of 47 557 adults, 408 cases of undiagnosed coeliac disease were identified. 408 serology negative matched controls were selected. Eight-matched pairs were excluded, leading to 800 included individuals (61% female; median age 44.2 years). The odds of any indication for clinical testing were similar among undiagnosed coeliac disease and controls (odds ratio (OR) 1.18; 95% CI: 0.85-1.63, P = 0.32). Most individual indications were not associated with serologic status. Exceptions to this include hypothyroidism, which was more likely in cases of undiagnosed coeliac disease, and dyspepsia and chronic diarrhoea, which were less likely. Cases of undiagnosed coeliac disease were more likely to develop osteoporosis (P = 0.005), dermatitis herpetiformis (P = 0.006), chronic fatigue (P = 0.033), thyroiditis (P = 0.003), autoimmune diseases (P = 0.008), and have a family member diagnosed with coeliac disease (P = 0.001). This study strongly suggests that current case finding is not effective in detecting undiagnosed coeliac disease. Individuals with undiagnosed coeliac disease were more likely than controls to develop indications for testing overtime. A more effective method for detection of coeliac disease is needed. © 2018 John Wiley & Sons Ltd and Mayo Foundation.

Phenotypic variability within the inclusion body spectrum of basophilic inclusion body disease and neuronal intermediate filament inclusion disease in frontotemporal lobar degenerations with FUS-positive inclusions.

PubMed

Gelpi, Ellen; Lladó, Albert; Clarimón, Jordi; Rey, Maria Jesús; Rivera, Rosa Maria; Ezquerra, Mario; Antonell, Anna; Navarro-Otano, Judith; Ribalta, Teresa; Piñol-Ripoll, Gerard; Pérez, Anna; Valldeoriola, Francesc; Ferrer, Isidre

2012-09-01

Basophilic inclusion body disease and neuronal intermediate filament inclusion disease (NIFID) are rare diseases included among frontotemporal lobar degenerations with FUS-positive inclusions (FTLD-FUS). We report clinical and pathologic features of 2 new patients and reevaluate neuropathologic characteristics of 2 previously described cases, including an early-onset case of basophilic inclusion body disease (aged 38 years) with a 5-year disease course and abundant FUS-positive inclusion bodies and 3 NIFID cases. One NIFID case (aged 37 years) presented with early-onset psychiatric disturbances and rapidly progressive cognitive decline. Two NIFID cases had later onset (aged 64 years and 70 years) and complex neurologic deficits. Postmortem neuropathologic studies in late-onset NIFID cases disclosed α-internexin-positive "hyaline conglomerate"-type inclusions that were positive with 1 commercial anti-FUS antibody directed to residues 200 and 250, but these were negative to amino acids 90 and 220 of human FUS. Early-onset NIFID had similar inclusions that were positive with both commercial anti-FUS antibodies. Genetic testing performed on all cases revealed no FUS gene mutations. These findings indicate that phenotypic variability in NIFID, including clinical manifestations and particular neuropathologic findings, may be related to the age at onset and individual differences in the evolution of lesions.

Sonography of cat scratch disease.

PubMed

Melville, David M; Jacobson, Jon A; Downie, Brian; Biermann, J Sybil; Kim, Sung Moon; Yablon, Corrie M

2015-03-01

To characterize the sonographic features of cat scratch disease and to identify features that allow differentiation from other causes of medial epitrochlear masses. After Institutional Review Board approval was obtained, patients who underwent sonography for a medial epitrochlear mass or lymph node were identified via the radiology information system. Patients were divided into 2 groups: cat scratch disease and non-cat scratch disease, based on pathologic results and clinical information. Sonograms were retrospectively reviewed and characterized with respect to dimension, shape (round, oval, or lobular), symmetry, location (subcutaneous or intramuscular), multiplicity, echogenicity (anechoic, hypoechoic, isoechoic, hyperechoic, or mixed), hyperechoic hilum (present or absent), adjacent anechoic or hypoechoic area, hyperemia (present or absent), pattern of hyperemia if present (central, peripheral, or mixed), increased posterior through-transmission (present or absent), and shadowing (present or absent). Sonographic findings were compared between the patients with and without cat scratch disease. The final patient group consisted of 5 cases of cat scratch disease and 16 cases of other causes of medial epitrochlear masses. The 2 sonographic findings that were significantly different between the cat scratch disease and non-cat scratch disease cases included mass asymmetry (P = .0062) and the presence of a hyperechoic hilum (P = .0075). The other sonographic findings showed no significant differences between the groups. The sonographic finding of an epitrochlear mass due to cat scratch disease most commonly is that of a hypoechoic lobular or oval mass with central hyperemia and a possible adjacent fluid collection; however, the presence of asymmetry and a hyperechoic hilum differentiate cat scratch disease from other etiologies. © 2015 by the American Institute of Ultrasound in Medicine.

Vulvar metastatic Crohn disease: clinical, histopathological and ultrasonographic findings.

PubMed

Pousa-Martínez, María; Alfageme, Fernando; González de Domingo, María Antonia; Suárez-Masa, Dolores; Calvo, Marta; Roustán, Gastón

2017-11-15

Metastatic Crohn disease (MCD) is an unusual type of cutaneous Crohn disease characterized by skin lesions separated from the lesions of the gastrointestinal tract. The diagnosis of MCD is essentially histological,showing noncaseating granulomas in the dermis and subcutaneous fat tissue. We report a case of MCD with vulvar involvement and clinical, histopathological, and ultrasonographic findings of this disease.

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

PubMed

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.

Bilateral cauliflower ear deformity: an unusual presentation of cutaneous Rosai-Dorfman disease.

PubMed

Oo, Kenneth K K; Pang, Yoke T; Thamboo, Thomas P

2004-03-01

This case illustrates the variety of clinical presentations of Rosai-Dorfman disease. In this case, the disease presented as bilateral cauliflower ear deformity and was diagnosed on the basis of typical pathological findings. Although the cause of this disease is not fully understood, it is hoped that, with increased awareness and the identification of more cases, more questions may be answered with respect to this interesting condition that was so elegantly described by Rosai and Dorfman more than three decades ago.

School-Based Asthma Case Finding: The Arkansas Experience

ERIC Educational Resources Information Center

Vargas, Perla A.; Magee, James S.; Bushmiaer, Margo; Simpson, Pippa M.; Jones, Craig A.; Feild, Charles R.; Jones, Stacie M.

2006-01-01

This population-based case-finding study sought to determine asthma prevalence and characterize disease severity and burden among school-aged children in the Little Rock School District. Asthma cases were identified by validated algorithm and parental report of asthma diagnosis. The overall response rate was low. Among schools with greater than…

A case of alkaptonuria - ultrasonographic findings.

PubMed

Damian, Laura Otilia; Felea, Ioana; Boloşiu, Călin; Botar-Jid, Carolina; Fodor, Daniela; Rednic, Simona

2013-12-01

Alkaptonuria is a rare disease with autosomal recessive inheritance and variable expression. The weight-bearing joint involvement and spondylitis-like vertebral changes occur only after the 3rd decade. Musculoskeletal ultrasonographic findings in alkaptonuria were only rarely described, consisting mainly into enthesopathy and non-synovial tendon degeneration. We present the case of a 50 years old man with alkaptonuria and discuss the ultrasonographic findings and the relationship of the disease with chondrocalcinosis. The tendinous and synovial aspect may be peculiar and it could therefore allow recognition and screening for alkaptonuria, along with clinical and radiologic data.

Necropsy and histopathologic findings in 14 African hedgehogs (Atelerix albiventris): a retrospective study.

PubMed

Raymond, J T; White, M R

1999-06-01

From fiscal years 1992 through 1996, 14 African hedgehog (Atelerix albiventris) cases were submitted to the Animal Disease Diagnostic Laboratory at Purdue University. The most common diagnoses were splenic extramedullary hematopoiesis (91%), hepatic lipidosis (50%), renal disease (50%), and neoplastic disease (29%). Other less frequent necropsy findings were myocarditis (21%), colitis (14%), bacterial septicemia (14%), and pneumonia (14%). The data indicate that splenic extramedullary hematopoiesis, hepatic lipidosis, renal disease, and neoplasms are frequent postmortem findings in hedgehogs.

Usefulness of symptoms to screen for celiac disease.

PubMed

Rosén, Anna; Sandström, Olof; Carlsson, Annelie; Högberg, Lotta; Olén, Ola; Stenlund, Hans; Ivarsson, Anneli

2014-02-01

To describe the frequency of symptoms and associated conditions among screening-detected celiac disease (CD) cases and non-CD children and to evaluate questionnaire-based case-finding targeting the general population. In a population-based CD screening of 12-year-olds, children and their parents completed questionnaires on CD-associated symptoms and conditions before knowledge of CD status. Questionnaire data for those who had their CD detected in the screening (n = 153) were compared with those of children with normal levels of CD markers (n = 7016). Hypothetical case-finding strategies were also evaluated. Questionnaires were returned by 7054 (98%) of the children and by 6294 (88%) of their parents. Symptoms were as common among screening-detected CD cases as among non-CD children. The frequency of children with screening-detected CD was similar when comparing the groups with and without any CD-related symptoms (2.1% vs 2.1%; P = .930) or CD-associated conditions (3.6% vs 2.1%; P = .07). Case-finding by asking for CD-associated symptoms and/or conditions would have identified 52 cases (38% of all cases) at a cost of analyzing blood samples for 2282 children (37%) in the study population. The current recommended guidelines for finding undiagnosed CD cases, so-called active case-finding, fail to identify the majority of previously undiagnosed cases if applied in the general population of Swedish 12-year-olds. Our results warrant further studies on the effectiveness of CD case-finding in the pediatric population, both at the clinical and population-based levels.

Alzheimer's Disease Sequencing Project discovery and replication criteria for cases and controls: Data from a community-based prospective cohort study with autopsy follow-up.

PubMed

Crane, Paul K; Foroud, Tatiana; Montine, Thomas J; Larson, Eric B

2017-12-01

The Alzheimer's Disease Sequencing Project (ADSP) used different criteria for assigning case and control status from the discovery and replication phases of the project. We considered data from a community-based prospective cohort study with autopsy follow-up where participants could be categorized as case, control, or neither by both definitions and compared the two sets of criteria. We used data from the Adult Changes in Thought (ACT) study including Diagnostic and Statistical Manual-IV criteria for dementia status, McKhann et al. criteria for clinical Alzheimer's disease, and Braak and Consortium to Establish a Registry for AD findings on neurofibrillary tangles and neuritic plaques to categorize the 621 ACT participants of European ancestry who died and came to autopsy. We applied ADSP discovery and replication definitions to identify controls, cases, and people who were neither controls nor cases. There was some agreement between the discovery and replication definitions. Major areas of discrepancy included the finding that only 40% of the discovery sample controls had sufficiently low levels of neurofibrillary tangles and neuritic plaques to be considered controls by the replication criteria and the finding that 16% of the replication phase cases were diagnosed with non-AD dementia during life and thus were excluded as cases for the discovery phase. These findings should inform interpretation of genetic association findings from the ADSP. Differences in genetic association findings between the two phases of the study may reflect these different phenotype definitions from the discovery and replication phase of the ADSP. Copyright © 2017 the Alzheimer's Association. Published by Elsevier Inc. All rights reserved.

Diffuse Lewy body disease: clinical features in 15 cases.

PubMed Central

Byrne, E J; Lennox, G; Lowe, J; Godwin-Austen, R B

1989-01-01

Fifteen cases of diffuse Lewy body disease were diagnosed on pathological grounds during a single year in one health district. The range and frequency of clinical features contrast strikingly with previous reports. The majority of cases presented with classical levodopa-responsive Parkinson's disease either alone (6 cases) or with mild cognitive impairment (3 cases); the remaining 6 cases presented with cognitive impairment alone. In time almost all patients developed both dementia and Parkinsonism. The dementia was cortical in type, but unusual in that most (12 cases) showed day-to-day fluctuation in severity at some point in their illness. These findings suggest that diffuse Lewy body disease is not rare, and that it presents in a range of ways from dementia with subsequent Parkinsonism to Parkinson's disease with subsequent dementia. The latter mode of presentation suggests that it should be considered as a significant pathological substrate of dementia in Parkinson's disease. Images PMID:2545827

An interesting case of peripheral vascular disease, vascular reperfusion, and subsequent development of pain due to Paget's disease of bone.

PubMed

Kwun, Sunna; Tucci, Joseph R

2013-01-01

To present a case of Paget's disease of bone that was unmasked after vascular reperfusion. In this case study, we review the presentation, evaluation, diagnosis, and management of a patient with Paget's disease and peripheral vascular disease. A 79-year-old-woman with a history of coronary artery heart disease and recent finding of a T5 compression fracture was hospitalized for evaluation of right lower extremity claudication. Angiography demonstrated a focal complete occlusion of the distal right femoral and popliteal arteries. A self-expanding stent was placed in the distal femoral and popliteal arteries. Approximately 48 hours after the procedure, the patient developed severe, right lower leg pain. On endocrine evaluation, the patient was found to have clinical signs suggesting Paget's disease of bone, which was subsequently confirmed by imaging. This patient's development of severe pain following reperfusion of distal femoral and popliteal arteries is in keeping with the known and aforementioned hypervascularity of pagetic bone. The finding of increased warmth over an area of skeletal deformation should always raise the possibility of Paget's disease of bone.

Defining datasets and creating data dictionaries for quality improvement and research in chronic disease using routinely collected data: an ontology-driven approach.

PubMed

de Lusignan, Simon; Liaw, Siaw-Teng; Michalakidis, Georgios; Jones, Simon

2011-01-01

The burden of chronic disease is increasing, and research and quality improvement will be less effective if case finding strategies are suboptimal. To describe an ontology-driven approach to case finding in chronic disease and how this approach can be used to create a data dictionary and make the codes used in case finding transparent. A five-step process: (1) identifying a reference coding system or terminology; (2) using an ontology-driven approach to identify cases; (3) developing metadata that can be used to identify the extracted data; (4) mapping the extracted data to the reference terminology; and (5) creating the data dictionary. Hypertension is presented as an exemplar. A patient with hypertension can be represented by a range of codes including diagnostic, history and administrative. Metadata can link the coding system and data extraction queries to the correct data mapping and translation tool, which then maps it to the equivalent code in the reference terminology. The code extracted, the term, its domain and subdomain, and the name of the data extraction query can then be automatically grouped and published online as a readily searchable data dictionary. An exemplar online is: www.clininf.eu/qickd-data-dictionary.html Adopting an ontology-driven approach to case finding could improve the quality of disease registers and of research based on routine data. It would offer considerable advantages over using limited datasets to define cases. This approach should be considered by those involved in research and quality improvement projects which utilise routine data.

Foudroyant Course of an Extensive Clostridium septicum Gas Gangrene in a Diabetic Patient with Occult Carcinoma of the Colon

PubMed Central

Kutup, Asad; Gehl, Axel; Zustin, Jozef; Grossterlinden, Lars G.; Rueger, Johannes M.; Lehmann, Wolfgang

2013-01-01

Background. Spontaneous gas gangrene is a rare disease in which Clostridium septicum frequently can be detected. After an incubation period of 5–48 hours, a very painful swelling is accompanied by a rapidly spreading toxic-infectious clinical picture ultimately leading to septic shock and multiple organ failure. We present a case of a completely documented rare infectious disease with triage findings including initial vital signs, initial medical findings, and the emergency lab., radiological, intraoperative, histopathological, microbiological, and postmortem results. After initial diagnosis of the underlying disease, the patient has been immediately transferred to the operating theatre. The laboratory findings reflect the devastating effect of toxin α which is a toxin typically produced by C. septicum. The patient presented both an anaemia and a manifest coagulopathy as well as an onset of multiple organ failure. Despite the aggressive medical and surgical measures that have been taken, this patient could not be saved. Discussion. The case presented vividly emphasises the difficulty to identify these cases early enough to save a patient. This documentation may help health care providers to identify this life threatening disease as early as possible in future cases. PMID:23864974

Determining the optimal approach to identifying individuals with chronic obstructive pulmonary disease: The DOC study.

PubMed

Ronaldson, Sarah J; Dyson, Lisa; Clark, Laura; Hewitt, Catherine E; Torgerson, David J; Cooper, Brendan G; Kearney, Matt; Laughey, William; Raghunath, Raghu; Steele, Lisa; Rhodes, Rebecca; Adamson, Joy

2018-06-01

Early identification of chronic obstructive pulmonary disease (COPD) results in patients receiving appropriate management for their condition at an earlier stage in their disease. The determining the optimal approach to identifying individuals with chronic obstructive pulmonary disease (DOC) study was a case-finding study to enhance early identification of COPD in primary care, which evaluated the diagnostic accuracy of a series of simple lung function tests and symptom-based case-finding questionnaires. Current smokers aged 35 or more were invited to undertake a series of case-finding tools, which comprised lung function tests (specifically, spirometry, microspirometry, peak flow meter, and WheezoMeter) and several case-finding questionnaires. The effectiveness of these tests, individually or in combination, to identify small airways obstruction was evaluated against the gold standard of spirometry, with the quality of spirometry tests assessed by independent overreaders. The study was conducted with general practices in the Yorkshire and Humberside area, in the UK. Six hundred eighty-one individuals met the inclusion criteria, with 444 participants completing their study appointments. A total of 216 (49%) with good-quality spirometry readings were included in the analysis. The most effective case-finding tools were found to be the peak flow meter alone, the peak flow meter plus WheezoMeter, and microspirometry alone. In addition to the main analysis, where the severity of airflow obstruction was based on fixed ratios and percent of predicted values, sensitivity analyses were conducted by using lower limit of normal values. This research informs the choice of test for COPD identification; case-finding by use of the peak flow meter or microspirometer could be used routinely in primary care for suspected COPD patients. Only those testing positive to these tests would move on to full spirometry, thereby reducing unnecessary spirometric testing. © 2018 John Wiley & Sons, Ltd.

Periodontal disease and anemias associated with Crohn's disease. A case report.

PubMed

Nagpal, Swati; Acharya, Anirudh B; Thakur, Srinath L

2012-03-01

Crohn's disease (CD) is an inflammatory bowel disease with oral findings, including periodontal manifestations. Anemias, such as iron deficiency and anemia of chronic disease (ACD), are the most common hematologic complications of CD. Periodontitis has systemic effects, and may tend toward anemia, which can be explained by depressed erythropoiesis. In the report presented here, the authors review a case of Crohn's disease diagnosed 10 years previous to the patient presenting with a changing anemic profile and periodontal disease. A discussion of patient and disease management is included.

Active Case Finding for Communicable Diseases in Prison Settings: Increasing Testing Coverage and Uptake Among the Prison Population in the European Union/European Economic Area

PubMed Central

Vroling, Hilde; Babudieri, Sergio; Monarca, Roberto; Vonk Noordegraaf-Schouten, Marije; Beer, Netta; Gomes Dias, Joana; O’Moore, Éamonn; Hedrich, Dagmar; Oordt-Speets, Anouk

2018-01-01

Abstract Prison populations are disproportionally affected by communicable diseases when compared with the general community because of a complex mix of socioeconomic determinants and environmental factors. Tailored and adequate health care provision in prisons has the potential to reach vulnerable and underserved groups and address their complex needs. We investigated the available evidence on modalities and effectiveness of active case-finding interventions in prisons by searching PubMed, Embase, and the Cochrane Library for records on prison and active case finding with no language limit. Conference abstracts and unpublished research reports also were retrieved. We analyzed the findings by testing modality, outcomes, and study quality. The included 90 records—63 peer-reviewed, 26 from gray literature, and 1 systematic review—reported variously on viral hepatitis, human immunodeficiency virus, sexually transmitted infections, and tuberculosis. No records were retrieved for other communicable diseases. Provider-initiated opt-in testing was the most frequently investigated modality. Testing at entry and provider-initiated testing were reported to result in comparatively higher uptake ranges. However, no comparative studies were identified that reported statistically significant differences between testing modalities. Positivity rates among tested inmates ranged broadly but were generally high for all diseases. The evidence on active case finding in correctional facilities is limited, heterogeneous, and of low quality, making it challenging to draw conclusions on the effect of different testing modalities. Scale-up of provider-initiated testing in European correctional facilities could substantially reduce the undiagnosed fraction and, hence, prevent additional disease transmission in both prison settings and the community at large. PMID:29648594

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

PubMed

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.

Neuroradiological findings in maple syrup urine disease

PubMed Central

Indiran, Venkatraman; Gunaseelan, R. Emmanuel

2013-01-01

Maple syrup urine disease is a rare inborn error of amino acid metabolism involving catabolic pathway of the branched-chain amino acids. This disease, if left untreated, may cause damage to the brain and may even cause death. These patients typically present with distinctive maple syrup odour of sweat and urine. Patients typically present with skin and urine smelling like maple syrup. Here we describe a case with relevant magnetic resonance imaging findings and confirmatory biochemical findings. PMID:23772241

Neuroradiological findings in maple syrup urine disease.

PubMed

Indiran, Venkatraman; Gunaseelan, R Emmanuel

2013-01-01

Maple syrup urine disease is a rare inborn error of amino acid metabolism involving catabolic pathway of the branched-chain amino acids. This disease, if left untreated, may cause damage to the brain and may even cause death. These patients typically present with distinctive maple syrup odour of sweat and urine. Patients typically present with skin and urine smelling like maple syrup. Here we describe a case with relevant magnetic resonance imaging findings and confirmatory biochemical findings.

Active case finding of tuberculosis: historical perspective and future prospects

PubMed Central

Golub, J. E.; Mohan, C. I.; Comstock, G. W.; Chaisson, R. E.

2015-01-01

SUMMARY Despite a history of remarkable scientific achievements in microbiology and therapeutics, tuberculosis (TB) continues to pose an extraordinary threat to human health. Case finding and treatment of TB disease are the principal means of controlling transmission and reducing incidence. This review presents a historical perspective of active case finding (ACF) of TB, detailing case detection strategies that have been used over the last century. This review is divided into the following sections: mass radiography, house-to-house surveys, out-patient case detection, enhanced case finding, high-risk populations and cost-effectiveness. The report concludes with a discussion and recommendations for future case finding strategies. Understanding the strengths and weaknesses of these methods will help inform and shape ACF as a TB control policy in the twenty-first century. PMID:16333924

Neurovascular manifestations of connective-tissue diseases: A review

PubMed Central

Kim, Sarasa T; Lanzino, Giuseppe; Kallmes, David F

2016-01-01

Patients with connective tissue diseases are thought to be at a higher risk for a number of cerebrovascular diseases such as intracranial aneurysms, dissections, and acute ischemic strokes. In this report, we aim to understand the prevalence and occurrences of such neurovascular manifestations in four heritable connective tissue disorders: Marfan syndrome, Ehlers-Danlos syndrome, Neurofibromatosis Type 1, and Loeys-Dietz syndrome. We discuss the fact that although there are various case studies reporting neurovascular findings in these connective tissue diseases, there is a general lack of case-control and prospective studies investigating the true prevalence of these findings in these patient populations. Furthermore, the differences observed in the manifestations and histology of such disease pathologies encourages future multi-center registries and studies in better characterizing the pathophysiology, prevalence, and ideal treatment options of neurovascular lesions in patents with connective tissue diseases. PMID:27511817

Cases of human fascioliasis in India: tip of the iceberg.

PubMed

Ramachandran, J; Ajjampur, S S R; Chandramohan, A; Varghese, G M

2012-01-01

This report presents two cases of human fascioliasis from different states in India. Although only few cases of human fascioliasis have been reported from India previously, both these cases were encountered within a span of three months at this tertiary care centre. Case 1 had significant symptoms with episodes of fever, abdominal pain and eosiniphilia and underwent multiple diagnostic procedures before the correct diagnosis was reached. Case 2, who had few symptoms, had fascioliasis diagnosed with minimal evaluation. These different presentations seen at two ends of the clinical spectrum of disease along with findings of peripheral eosinophilia, and radiological findings led to a presumptive diagnosis that was then confirmed by microscopic examination of bile. Morphometric analysis of ova from these cases was suggestive of infestation with F. gigantica or a F. gigantica-like hybrid. Both patients were treated with triclabendazole which was imported from Geneva. The need to be aware of the possibility of occurrence of this disease and the inclusion of drugs used for treating the disease, in the Indian drug list, should be emphasized.

Lymphogranuloma venereum proctitis: a differential diagnose to inflammatory bowel disease.

PubMed

Høie, Sverre; Knudsen, Lene Surland; Gerstoft, Jan

2011-04-01

Lymphogranuloma venereum (LGV) is a sexually transmitted disease, endemic in tropical and subtropical areas for many years. After 2003 there have been several outbreaks in western countries, especially among HIV-positive men who have sex with men (MSM). An important manifestation of LGV is a proctitis, with a clinical presentation and endoscopic findings resembling those of inflammatory bowel diseases (IBDs). LGV is considered new in Scandinavia. This case report focuses on difficulties in differentiating LGV and IBD. This case report used a systematic search in the literature using PubMed and clinical cases from the Department of Infectious Diseases, Copenhagen University Hospital, Rigshospitalet, Denmark (Cases 1-3) and the Section of Surgery, Hamar Hospital, Norway (Case 4). Clinical and endoscopic findings in LGV and IBD resemble each other. All cases were MSM. Three out of four were HIV-positive. Three out of four contacted their general practitioner (GP) due to gastrointestinal (GI) symptoms, and were referred to a gastroenterologist (GE) with suspicion of IBD. Because of non-successful IBD treatment, control of HIV status, relapses of GI-symptoms or extended information concerning sexual habits, LGV was suspected and diagnosed. All patients responded with remission of GI-symptoms and endoscopic findings after oral treatment with doxycycline. Due to similarities between LGV and IBD, LGV should be considered as a differential diagnosis in patients with proctitis or IBD-related symptoms, especially among HIV-positive men. Hence LGV patients may be spared long-lasting examination, mistreatment and surgery.

Putative Malassezia dermatitis in six goats.

PubMed

Eguchi-Coe, Yuko; Valentine, Beth A; Gorman, Elena; Villarroel, Aurora

2011-12-01

Histopathology submissions from 28 goats with dermatological disease were identified in an archival search of pathology files. Microscopic sections of skin biopsy specimens were examined for the presence of Malassezia spp. organisms. Six cases with many Malassezia yeasts were identified histopathologically. Based on the extent of clinical disease, three cases were regarded as localized and three were generalized infections. Clinical findings included alopecia with dry seborrhoea (four cases), greasy seborrhoea (one case), and no clinical findings specific to localized Malassezia infection when concurrent bacterial infection was present (one case). Mild pruritus was reported in two cases of generalized infection. No breed predilection was apparent. Three cases were male and three were female. Malassezia dermatitis occurred in goats from 10 months to 13 years of age. Three of six cases had concurrent bacterial infection. Skin lesions resolved following topical antifungal therapy in the two goats that were treated. Histopathological findings in all cases were severe follicular and epidermal orthokeratotic hyperkeratosis with minimal epithelial change and mild superficial perivascular to interstitial nonsuppurative inflammation. Numerous budding yeasts were visible within the stratum corneum of all cases; however, Malassezia was not isolated in the three cases in which culture was attempted. Based upon these findings, the authors suggest that the diagnosis Malassezia dermatitis in goats is most likely to be made by cytological examination of skin impressions or by examination of skin biopsy samples. © 2011 The Authors. Veterinary Dermatology. © 2011 ESVD and ACVD.

Lymphogranuloma venereum: "a clinical and histopathological chameleon?".

PubMed

Tchernev, Georgi; Salaro, Cristina; Costa, Mariana Carvalho; Patterson, James W; Nenoff, Pietro

2010-01-01

Lymphogranuloma venereum is an infection caused by a variety of the bacterium Chlamydia trachomatis. Both genital and extragenital manifestations of the disease can cause serious differential diagnostic difficulties, indirectly leading to progression and dissemination of the infection. This work describes cases of patients with lymphogranuloma venereum showing atypical clinical and/or histopathological findings. It also focuses on alternative therapeutic approaches, such as surgical excision at stage 1, that may lead to a positive outcome. It is not completely clear whether histopathological findings of lymphogranuloma venereum can reveal progression or changes in the course of the disease over time, as is the case in other diseases. We conclude that both clinical and histopathological observations in a larger number of patients are needed in order to further evaluate the findings presented in this article.

Reptile cardiology.

PubMed

Mitchell, Mark A

2009-01-01

Cardiovascular disease in reptiles generally is considered an uncommon finding in captive animals, but no large-scale, cross-sectional studies have been performed to determine its prevalence. It is possible that cardiovascular disease is more common than is generally accepted and that the current belief results from limited clinical and diagnostic experience. This article offers guidance drawn from the author's clinical experience and the available literature. It is important that veterinarians pursue a thorough history, physical examination, and diagnostic work-up when managing cardiovascular disease in a reptile case. Veterinarians working with these cases should document their findings and share them with their colleagues to build an evidence-based foundation for reptile medicine.

GeneYenta: a phenotype-based rare disease case matching tool based on online dating algorithms for the acceleration of exome interpretation.

PubMed

Gottlieb, Michael M; Arenillas, David J; Maithripala, Savanie; Maurer, Zachary D; Tarailo Graovac, Maja; Armstrong, Linlea; Patel, Millan; van Karnebeek, Clara; Wasserman, Wyeth W

2015-04-01

Advances in next-generation sequencing (NGS) technologies have helped reveal causal variants for genetic diseases. In order to establish causality, it is often necessary to compare genomes of unrelated individuals with similar disease phenotypes to identify common disrupted genes. When working with cases of rare genetic disorders, finding similar individuals can be extremely difficult. We introduce a web tool, GeneYenta, which facilitates the matchmaking process, allowing clinicians to coordinate detailed comparisons for phenotypically similar cases. Importantly, the system is focused on phenotype annotation, with explicit limitations on highly confidential data that create barriers to participation. The procedure for matching of patient phenotypes, inspired by online dating services, uses an ontology-based semantic case matching algorithm with attribute weighting. We evaluate the capacity of the system using a curated reference data set and 19 clinician entered cases comparing four matching algorithms. We find that the inclusion of clinician weights can augment phenotype matching. © 2015 WILEY PERIODICALS, INC.

Two case reports of anophthalmia and congenital heart disease: Adding a new dimension to this association.

PubMed

Wang, Jenny; Steelman, Charlotte K; Vincent, Robert; Richburg, Delene; Chang, Tiffany S; Shehata, Bahig M

2010-01-01

Anophthalmia is the congenital absence of ocular tissue from the orbit. Many syndromes and malformations (e.g., anophthalmia-esophageal-genital syndrome, Matthew-Wood syndrome, CHARGE syndrome, oculo-facial-cardio-dental-syndome, heterotaxy, and Fraser syndrome) have been associated with anophthalmia. However, its relation with congenital heart disease has not been fully elucidated. In this article, we discuss two cases of patients with anophthalmia and congenital heart defects, and we compare these findings with other syndromes with which anophthalmia has been associated. One of our two patients showed complex congenital heart disease with heterotaxia, polysplenia, and normal lung lobation. These findings may reflect a new dimension of anophthalmia, heterotaxia, and congenital heart disease associations.

Investigation of characteristics and factors associated with avian mycobacteriosis in zoo birds.

PubMed

Witte, Carmel L; Hungerford, Laura L; Papendick, Rebecca; Stalis, Ilse H; Rideout, Bruce A

2008-03-01

The objective of the current study was to identify factors associated with avian mycobacteriosis in zoo birds. Inventory data, population health records, and necropsy data from eligible birds in the Zoological Society of San Diego's (ZSSD) collection from 1991-2005 (n = 13,976) were used to describe disease incidence, prevalence, and postmortem findings. A matched case-control study was then conducted to identify factors describing demographic, temporal, and enclosure characteristics, along with move and exposure histories. Cases (disease-positive birds; n = 167) were matched in a 17 ratio with controls (disease-negative birds; n = 1169) of similar age and taxonomic grouping. Potential risk factors were evaluated using univariate and multivariable conditional logistic regression. Disease prevalence and incidence were estimated for the study period at 1.2% and 3 cases/(1,000 bird-years at risk), respectively. Lesion characteristics and order prevalence are described. In the multivariable model, case birds were more likely to have been previously housed with a bird with mycobacterial disease involving the intestinal tract (odds ratio [OR] = 5.6, P < 0.01) or involving only nonintestinal sites (OR = 2.0, P < 0.01). Cases were more likely to have been imported into the collection than hatched at the ZSSD (OR = 4.2, P < 0.01). Cases were moved among ZSSD enclosures more than controls (OR = 1.1 for each additional move, P < 0.01). Findings will help guide future management of this disease for zoo bird populations.

Magnetic resonance findings of the corpus callosum in canine and feline lysosomal storage diseases.

PubMed

Hasegawa, Daisuke; Tamura, Shinji; Nakamoto, Yuya; Matsuki, Naoaki; Takahashi, Kimimasa; Fujita, Michio; Uchida, Kazuyuki; Yamato, Osamu

2013-01-01

Several reports have described magnetic resonance (MR) findings in canine and feline lysosomal storage diseases such as gangliosidoses and neuronal ceroid lipofuscinosis. Although most of those studies described the signal intensities of white matter in the cerebrum, findings of the corpus callosum were not described in detail. A retrospective study was conducted on MR findings of the corpus callosum as well as the rostral commissure and the fornix in 18 cases of canine and feline lysosomal storage diseases. This included 6 Shiba Inu dogs and 2 domestic shorthair cats with GM1 gangliosidosis; 2 domestic shorthair cats, 2 familial toy poodles, and a golden retriever with GM2 gangliosidosis; and 2 border collies and 3 chihuahuas with neuronal ceroid lipofuscinoses, to determine whether changes of the corpus callosum is an imaging indicator of those diseases. The corpus callosum and the rostral commissure were difficult to recognize in all cases of juvenile-onset gangliosidoses (GM1 gangliosidosis in Shiba Inu dogs and domestic shorthair cats and GM2 gangliosidosis in domestic shorthair cats) and GM2 gangliosidosis in toy poodles with late juvenile-onset. In contrast, the corpus callosum and the rostral commissure were confirmed in cases of GM2 gangliosidosis in a golden retriever and canine neuronal ceroid lipofuscinoses with late juvenile- to early adult-onset, but were extremely thin. Abnormal findings of the corpus callosum on midline sagittal images may be a useful imaging indicator for suspecting lysosomal storage diseases, especially hypoplasia (underdevelopment) of the corpus callosum in juvenile-onset gangliosidoses.

Magnetic Resonance Findings of the Corpus Callosum in Canine and Feline Lysosomal Storage Diseases

PubMed Central

Hasegawa, Daisuke; Tamura, Shinji; Nakamoto, Yuya; Matsuki, Naoaki; Takahashi, Kimimasa; Fujita, Michio; Uchida, Kazuyuki; Yamato, Osamu

2013-01-01

Several reports have described magnetic resonance (MR) findings in canine and feline lysosomal storage diseases such as gangliosidoses and neuronal ceroid lipofuscinosis. Although most of those studies described the signal intensities of white matter in the cerebrum, findings of the corpus callosum were not described in detail. A retrospective study was conducted on MR findings of the corpus callosum as well as the rostral commissure and the fornix in 18 cases of canine and feline lysosomal storage diseases. This included 6 Shiba Inu dogs and 2 domestic shorthair cats with GM1 gangliosidosis; 2 domestic shorthair cats, 2 familial toy poodles, and a golden retriever with GM2 gangliosidosis; and 2 border collies and 3 chihuahuas with neuronal ceroid lipofuscinoses, to determine whether changes of the corpus callosum is an imaging indicator of those diseases. The corpus callosum and the rostral commissure were difficult to recognize in all cases of juvenile-onset gangliosidoses (GM1 gangliosidosis in Shiba Inu dogs and domestic shorthair cats and GM2 gangliosidosis in domestic shorthair cats) and GM2 gangliosidosis in toy poodles with late juvenile-onset. In contrast, the corpus callosum and the rostral commissure were confirmed in cases of GM2 gangliosidosis in a golden retriever and canine neuronal ceroid lipofuscinoses with late juvenile- to early adult-onset, but were extremely thin. Abnormal findings of the corpus callosum on midline sagittal images may be a useful imaging indicator for suspecting lysosomal storage diseases, especially hypoplasia (underdevelopment) of the corpus callosum in juvenile-onset gangliosidoses. PMID:24386203

Clinicopathological Findings of Suicide in the Elderly: Three Cases

ERIC Educational Resources Information Center

Peisah, Carmelle; Snowdon, John; Kril, Jillian; Rodriguez, Michael

2007-01-01

The neuropathological correlates of suicide in older persons have received little research attention. Our recent study of elderly suicide victims from an Australian forensic medicine department (n = 143), unlike a previous case-control study, did not find an increased prevalence of Alzheimer's disease (AD) in older persons who committed suicide…

Maternal autoimmune disease and birth defects in the National Birth Defects Prevention Study.

PubMed

Howley, Meredith M; Browne, Marilyn L; Van Zutphen, Alissa R; Richardson, Sandra D; Blossom, Sarah J; Broussard, Cheryl S; Carmichael, Suzan L; Druschel, Charlotte M

2016-11-01

Little is known about the association between maternal autoimmune disease or its treatment and the risk of birth defects. We examined these associations using data from the National Birth Defects Prevention Study, a multi-site, population-based, case-control study. Analyses included 25,116 case and 9897 unaffected control infants with estimated delivery dates between 1997 and 2009. Information on autoimmune disease, medication use, and other pregnancy exposures was collected by means of telephone interview. Adjusted odds ratios (ORs) and 95% confidence intervals (CIs) were estimated for birth defects with five or more exposed cases; crude ORs and exact 95% CIs were estimated for birth defects with three to four exposed cases. Autoimmune disease was reported by 373 mothers (279 case and 94 control mothers). The majority of birth defects evaluated were not associated with autoimmune disease; however, a statistically significant association between maternal autoimmune disease and encephalocele was observed (OR, 4.64; 95% CI, 1.95-11.04). Eighty-two mothers with autoimmune disease used an immune modifying/suppressing medication during pregnancy; this was associated with encephalocele (OR, 7.26; 95% CI, 1.37-24.61) and atrial septal defects (OR, 3.01; 95% CI, 1.16-7.80). Our findings suggest maternal autoimmune disease and treatment are not associated with the majority of birth defects, but may be associated with some defects, particularly encephalocele. Given the low prevalence of individual autoimmune diseases and the rare use of specific medications, we were unable to examine associations of specific autoimmune diseases and medications with birth defects. Other studies are needed to confirm these findings. Birth Defects Research (Part A) 106:950-962, 2016. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Churg-Strauss syndrome: a case report*

PubMed Central

Fernandes, Gabriel Lacerda; Teixeira, Arivaldo Araújo; Antón, Ana Graziela Santana; Reis, Alan Timóteo Rodrigues; de Freitas, Ana Carolina Rezende; Basílio, Dunya Bachour

2014-01-01

Churg-Strauss syndrome is a rare systemic disease primarily characterized by hypereosinophilia, asthma and vasculitis. The lung is the organ most frequently involved. In the present report, the authors describe a relatively rare finding in this disease - the presence of a pulmonary nodule -, while recalling the main radiological findings and the most relevant differential diagnoses. PMID:25741095

Can physicians conceive of performing euthanasia in case of psychiatric disease, dementia or being tired of living?

PubMed

Bolt, Eva Elizabeth; Snijdewind, Marianne C; Willems, Dick L; van der Heide, Agnes; Onwuteaka-Philipsen, Bregje D

2015-08-01

Euthanasia and physician-assisted suicide (EAS) in patients with psychiatric disease, dementia or patients who are tired of living (without severe morbidity) is highly controversial. Although such cases can fall under the Dutch Euthanasia Act, Dutch physicians seem reluctant to perform EAS, and it is not clear whether or not physicians reject the possibility of EAS in these cases. To determine whether physicians can conceive of granting requests for EAS in patients with cancer, another physical disease, psychiatric disease, dementia or patients who are tired of living, and to evaluate whether physician characteristics are associated with conceivability. A cross-sectional study (survey) was conducted among 2269 Dutch general practitioners, elderly care physicians and clinical specialists. The response rate was 64% (n=1456). Most physicians found it conceivable that they would grant a request for EAS in a patient with cancer or another physical disease (85% and 82%). Less than half of the physicians found this conceivable in patients with psychiatric disease (34%), early-stage dementia (40%), advanced dementia (29-33%) or tired of living (27%). General practitioners were most likely to find it conceivable that they would perform EAS. This study shows that a minority of Dutch physicians find it conceivable that they would grant a request for EAS from a patient with psychiatric disease, dementia or a patient who is tired of living. For physicians who find EAS inconceivable in these cases, legal arguments and personal moral objections both probably play a role. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

Retinopathy of prematurity: mutations in the Norrie disease gene and the risk of progression to advanced stages.

PubMed

Haider, M Z; Devarajan, L V; Al-Essa, M; Srivastva, B S; Kumar, H; Azad, R; Rashwan, N

2001-04-01

Retinopathy of prematurity (ROP) is a retinal vascular disease that occurs in infants with short gestational age and low birth weight and may lead to retinal detachment and blindness. Missense mutations in the Norrie disease (ND) gene have been associated with the risk of progression to advanced stages in cases of ROP from the US and also in clinically similar ND and familial exudative vitreoretinopathy. We have screened two ND gene mutations, namely A105T and Val60Glu, by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and allele-specific PCR methods, respectively, in 210 Kuwaiti premature newborns to replicate these findings in a different ethnic group. In the Kuwaiti premature newborn cohort, 115 of 210 babies had no eye problems and served as controls, while 95 were cases of ROP. In 71 of 95 ROP cases, the disease regressed spontaneously on or before stage 3, while in 24 of 95 ROP cases the disease progressed to advanced stages 4 and 5. In case of missense mutation (A105T), the AA genotype was detected in 96% of controls compared with 87% of ROP cases (NS); similarly no significant difference was found between spontaneously regressed ROP cases and those who progressed to advanced stages. For the Val60Glu mutation, no significant association was detected between the genotype and progression of ROP to advanced stages. Unlike data from the US, our findings from a Kuwaiti cohort of ROP cases and controls suggest a lack of association between the two ND gene mutations (A105T and Val60Glu) and ROP and the risk of progression of the disease to advanced stages.

Comparison of clinical causes of death with autopsy diagnosis using discrepency classification.

PubMed

Ullah, Khalil; Alamgir, Wasim

2006-12-01

To determine the usefulness of autopsy findings in the quality improvement of patients care. An observational study. Departments of Pathology and Medicine, Combined Military Hospital (CMH) Kharian, a tertiary care hospital, from January 2001 to December 2003. The clinical and necropsy findings of all the cases, who died in hospital and had undergone autopsy examination at CMH, Kharian, from January 2001 to December 2003, were retrieved from record of clinical case sheet data and autopsy record of the hospital. The two were analyzed and compared according to the discrepancy classification. The exclusion and inclusion criteria, the international classification of disease (ICD) to code deaths, the global burden of disease (GBD) system to classify and group diseases, and the Goldman discrepancy classification to compare clinical and autopsy diagnosis and classify the discrepancies, were used as described. The death rate varied from 0.94% to 1.29% and autopsy rate from 4.69% to 10.10% annually between January 2001 and December 2003. The number of cases classified according to GBD system was 3 (5%) in Group 1, 26 (43.33 %) in Group 2 and 31 (51.66 %) in Group 3. The discrepancy classes included 9 (15 %) class I major discrepancies and 3 (5 %) class II major discrepancies. Non-discrepant diagnosis was seen in 37 cases (61.66 %) and 11 cases (18.32 %) were non-classifiable. This study showed the usefulness of autopsy findings in the quality improvement of the diagnosis and management of the disease by showing only a minority of cases with discrepant diagnosis of the cause of death.

Association of Alzhemier's disease with hepatitis C among patients with bipolar disorder.

PubMed

Lin, Herng-Ching; Xirasagar, Sudha; Lee, Hsin-Chien; Huang, Chung-Chien; Chen, Chao-Hung

2017-01-01

Associations of hepatitis C virus infection with Alzheimer's disease have not been studied among higher risk, bipolar disorder patients. This population-based case-control study investigated the risks of hepatitis C virus infection among Alzheimer's disease patients with bipolar disorder in the years preceding their Alzheimer's disease diagnosis. We used 2000-2013 data from the Longitudinal Health Insurance Database in Taiwan. Among patients with bipolar disorder, 73 were diagnosed with Alzheimer's disease (cases), who were compared with 365 individuals with bipolar disorder but without Alzheimer's disease (randomly selected controls matched on sex, age, and index year with cases). Prior claims (before the diagnosis year/index year for controls) were screened for a diagnosis of hepatitis C virus infection. Conditional logistic regression models were used for analysis. We found that 23 (31.51%) and 60 (16.44%) patients with bipolar disease were identified with a hepatitis C diagnosis among those with and without Alzheimer's disease, respectively. Compared to controls, patients with Alzheimer's disease showed 2.31-fold (95% confidence interval = 1.28-4.16) increased risk of hepatitis C infections adjusted for demographics and socio-economic status. Findings suggest an association of Alzheimer's disease with a preceding diagnosis of hepatitis C infection among patients with bipolar disorder. Findings may suggest a need for increased awareness of and appropriate surveillance for Alzheimer's disease in patients with bipolar disorder diagnosed with hepatitis C infection.

[Morphological findings in fatal cases of hantavirus cardiopulmonary syndrome. Report of 7 autopsies].

PubMed

Guzmán G, Pablo; Tapia E, Oscar; Villaseca H, Miguel; Araya O, Juan; Antonio P, Lilia; Lee O, Bolívar; Roa S, Juan

2010-10-01

Hantavirus cardiopulmonary syndrome (HCPS) is an acute infectious disease characterized by sudden cardiorespiratory failure and high mortality, caused by a RNA virus of the genus Hantavirus, family Bunyaviridae, 15% of Chilean cases have been detected in the Araucania Region. To determine in fatal cases of HCPS, clinical and morphological characteristics. Descriptive-retrospective analysis of seven fatal cases with postmortem study of HCPS, attended between 1997 and 2009 at the Hospital of Temuco, Chile. Cases were young patients from rural areas, and presented as an illness of progressive respiratory failure, with leukocytosis, thrombocytopenia and bilateral interstitial pulmonary infiltrates. Main morphological findings were marked intersticial and intraalveolar pulmonary edema, with minimal epithelial injury and mononuclear cell intersticial infiltrate and mild edematous intersticial inflamatory process. Epidemiological, clinical and laboratory background allow to suspect HCPS. In fatal cases, the autopsy makes possible to discard other similar pathologies and provide tissue for confirmation of the disease.

Disease management: findings from leading state programs.

PubMed

Wheatley, Ben

2002-12-01

Disease management programs are designed to contain costs by improving health among the chronically ill. More than 20 states are now engaged in developing and implementing Medicaid disease management programs for their primary care case management and fee-for-service populations.

Screening for celiac disease in average-risk and high-risk populations

PubMed Central

Aggarwal, Saurabh; Lebwohl, Benjamin

2012-01-01

The prevalence of celiac disease is rising. As a result there is increasing interest in the associated mortality and morbidity of the disease. Screening of asymptomatic individuals in the general population is not currently recommended; instead, a strategy of case finding is the preferred approach, taking into account the myriad modes of presentation of celiac disease. Although a gluten-free diet is the treatment of choice in symptomatic patients with celiac disease, there is no consensus on whether institution of a gluten-free diet will improve the quality of life in asymptomatic screen-detected celiac disease patients. A review of the studies that have been performed on this subject is presented. Certain patient groups such as those with autoimmune diseases may be offered screening in the context of an informed discussion regarding the potential benefits, with the caveat that the data on this issue are sparse. Active case finding seems to be the most prudent option in most clinical situations. PMID:22282707

International Circumpolar Surveillance System for Invasive Pneumococcal Disease, 1999–2005

PubMed Central

Deeks, Shelley L.; Zulz, Tammy; Bruden, Dana; Navarro, Christine; Lovgren, Marguerite; Jette, Louise; Kristinsson, Karl; Sigmundsdottir, Gudrun; Jensen, Knud Brinkløv; Lovoll, Oistein; Nuorti, J. Pekka; Herva, Elja; Nystedt, Anders; Sjostedt, Anders; Koch, Anders; Hennessy, Thomas W.; Parkinson, Alan J.

2008-01-01

The International Circumpolar Surveillance System is a population-based surveillance network for invasive bacterial disease in the Arctic. The 7-valent pneumococcal conjugate vaccine (PCV7) was introduced for routine infant vaccination in Alaska (2001), northern Canada (2002–2006), and Norway (2006). Data for invasive pneumococcal disease (IPD) were analyzed to identify clinical findings, disease rates, serotype distribution, and antimicrobial drug susceptibility; 11,244 IPD cases were reported. Pneumonia and bacteremia were common clinical findings. Rates of IPD among indigenous persons in Alaska and northern Canada were 43 and 38 cases per 100,000 population, respectively. Rates in children <2 years of age ranged from 21 to 153 cases per 100,000 population. In Alaska and northern Canada, IPD rates in children <2 years of age caused by PCV7 serotypes decreased by >80% after routine vaccination. IPD rates are high among indigenous persons and children in Arctic countries. After vaccine introduction, IPD caused by non-PCV7 serotypes increased in Alaska. PMID:18258073

Completed suicide in an autopsy-confirmed case of early onset Alzheimer's disease.

PubMed

Hartzell, Jennifer Wiener; Geary, Richard; Gyure, Kymberly; Chivukula, Venkata Ravi; Haut, Marc W

2018-04-01

We report a case of a 57-year-old male with clinically diagnosed and autopsy-confirmed early onset Alzheimer's disease who completed suicide by gunshot wound to the chest. This case has several unique aspects that have not been discussed in previous case reports of completed suicide in Alzheimer's disease. In particular, our patient's death was highly planned with successful compensation for his cognitive deficits. After all firearms had been removed from the home as a safety precaution, he obtained a new weapon, hid it and left himself cues to find and use it. The case is discussed in the context of literature differentiating the neural circuitry propagating impulsive versus planned suicidal acts.

Neuro-Sweet disease: report of the first autopsy case.

PubMed

Kokubo, Yasumasa; Kuzuhara, Shigeki; Isoda, Kenichi; Sato, Kenji; Kawada, Norikazu; Narita, Yugo

2007-09-01

Neuro-Sweet disease is a rare condition of central nervous involvement accompanied by cutaneous Sweet lesions. Neuropathological changes in neuro-Sweet disease are unknown. To describe post-mortem findings of the first case of neuro-Sweet disease. A 44-year-old Japanese man developed recurrent episodes of cerebral and brainstem encephalitis with cutaneous Sweet lesions from the age of 34 years. His HLA typing was B54 and Cw1, and the symptoms and MRI abnormalities markedly subsided following corticosteroid therapy. Histologically, there were multiple lesions of perivascular cuffing of small venules by macrophages without vasculitis in the thalamus, temporal lobe, basal ganglia, pons, leptomeninges or ventricular ependym. The core neuropathological findings were: perivascular cuffing around particularly small veins; absence of granulomatous or necrotic angitis; mainly macrophage infiltration; and the thalamus being most affected. In the present case, the diagnosis of neuro-Sweet disease was made by skin biopsy 5 years after the onset of the central neuron system symptoms. We should pay more attention to skin lesions in steroid responsive recurrent encephalitis in patients who are HLA-B54 or Cw1 positive.

Histopathologic aid to diagnosis of sarcoidosis: report of 8 cases.

PubMed

Manonukul, Jane; Wanitphakdeedecha, Rungsima; Wisuthsarewong, Wanee; Thirapote, Panitta

2006-06-01

Sarcoidosis is a multisystemic disease of unknown etiology. The disease is common in blacks and is very rare in Thailand. It presents as one of the most variable manifestations usually affecting the lungs and intrathoracic lymph nodes. Other organs such as liver, spleen, joints and eyes including skin are also involved The common cutaneous lesions are maculopapular, erythematous plaque, subcutaneous nodule, scar and lupus pernio. No reliable indicator is useful for diagnosis except the histopathologic change which is the only way for approaching this disease. Sarcoidosis is the disease of exclusion. Various infections producing granulomas should be excluded histologically. The ultimate diagnosis requires clinical correlation, laboratory investigations, chest X-ray as well as available tissue culture. Herein, the authors reported eight cases of sarcoidosis by retrospective study primarily diagnosed by histopathological findings at Siriraj Hospital from January, 1997 to December, 2004 with many different clinical presentations. Despite the diverse clinical pictures, interestingly, the presented patients almost had the same histopathologic findings as small, uniform, discrete naked granulomas usually without necrosis. These findings act as a hallmark for diagnosis of this disease.

[Psychosomatics in rheumatology].

PubMed

Eich, W; Blumenstiel, K; Lensche, H; Fiehn, C; Bieber, C

2004-04-01

Psychosocial factors influence the course and the outcome of chronic somatic diseases. This is also valid for rheumatic diseases like rheumatoid arthritis, spondyloarthropathies, systemic collagen vascular diseases, and fibromyalgia syndrome. The article summarises the evidence-based findings and it illustrates possibilities of psychosomatic treatment in rheumatic diseases by means of three case reports.

Ultrastructural findings in Hashimoto's thyroiditis and focal lymphocytic thyroiditis with reference to giant cell formation.

PubMed

Knecht, H; Hedinger, C E

1982-09-01

Ultrastructural findings in two cases of Hashimoto's disease and two cases of focal lymphocytic thyroiditis are reported. Stimulated thyrocytes, oncocytes and degenerating thyrocytes were observed in all cases. Multinucleated thyrocytes and epithelial pseudogiant cells were identified in Hashimoto's disease only. Infiltrating lymphocytes, plasma cells, monocytes and macrophages were present in all cases. The ultrastructure of germinal centres was similar to that seen in lymphatic organs. Giant cells of both intra- and extrafollicular localization were seen in Hashimoto's disease. Most of the giant cells were macrophage-derived. Two different ways of giant cell formation were identified: besides the familiar dissolution of plasma membranes of adjacent macrophages, another mechanism of fusion was observed. At sites of contact, peculiar membrane structures were developed and disintegration of plasma membranes occurred in parts adjacent to these structures. These are not identical to desmosomes and are different from Langerhans' granules. They probably represent special organelles for the initiation of cellular fusion.

Swallowing endoscopy findings in Huntington's disease: a case report.

PubMed

Alves, Thaís Coelho; Cola, Paula Cristina; Santos, Rarissa Rúbia Dallaqua Dos; Motonaga, Suely Mayumi; Silva, Roberta Gonçalves da

2016-01-01

Huntington's disease (HD) is a degenerative genetic disorder with autosomal-dominant transmission. The triad of symptoms of this disease consists of psychiatric disorders, jerky movements, and dementia. Oropharyngeal dysphagia, which is more evident with disease progression, is also present. Few studies have addressed the swallowing characteristics using objective analysis in this population. The purpose of this research was to describe the swallowing endoscopic findings of the pharyngeal phase in HD. This is a cross-sectional study addressing a clinical case which included two individuals of the same family, male, 32 and 63 years old, designated as individual A and individual B, with progression of the disease for five and 13 years, respectively. Consistent liquid, nectar, and puree were offered during the evaluation. There was presence of posterior oral spillage in liquid and nectar, small amount of pharyngeal residues, and no laryngeal penetration or aspiration in the individuals with HD in this study.

The effects of financial incentives for case finding for depression in patients with diabetes and coronary heart disease: interrupted time series analysis.

PubMed

McLintock, Kate; Russell, Amy M; Alderson, Sarah L; West, Robert; House, Allan; Westerman, Karen; Foy, Robbie

2014-08-20

To evaluate the effects of Quality and Outcomes Framework (QOF) incentivised case finding for depression on diagnosis and treatment in targeted and non-targeted long-term conditions. Interrupted time series analysis. General practices in Leeds, UK. 65 (58%) of 112 general practices shared data on 37,229 patients with diabetes and coronary heart disease targeted by case finding incentives, and 101,008 patients with four other long-term conditions not targeted (hypertension, epilepsy, chronic obstructive pulmonary disease and asthma). Incentivised case finding for depression using two standard screening questions. Clinical codes indicating new depression-related diagnoses and new prescriptions of antidepressants. We extracted routinely recorded data from February 2002 through April 2012. The number of new diagnoses and prescriptions for those on registers was modelled with a binomial regression, which provided the strength of associations between time periods and their rates. New diagnoses of depression increased from 21 to 94/100,000 per month in targeted patients between the periods 2002-2004 and 2007-2011 (OR 2.09; 1.92 to 2.27). The rate increased from 27 to 77/100,000 per month in non-targeted patients (OR 1.53; 1.46 to 1.62). The slopes in prescribing for both groups flattened to zero immediately after QOF was introduced but before incentivised case finding (p<0.01 for both). Antidepressant prescribing in targeted patients returned to the pre-QOF secular upward trend (Wald test for equivalence of slope, z=0.73, p=0.47); the slope was less steep for non-targeted patients (z=-4.14, p<0.01). Incentivised case finding increased new depression-related diagnoses. The establishment of QOF disrupted rising trends in new prescriptions of antidepressants, which resumed following the introduction of incentivised case finding. Prescribing trends are of concern given that they may include people with mild-to-moderate depression unlikely to respond to such treatment. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

Computed tomography of intramural hematoma of the small intestime: a report of 3 cases

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

Plojoux, O.; Hauser, H.; Wettstein, P.

1982-08-01

CT findings in 3 cases of intramural hematoma of the small intestine are described. One patient needed surgery. CT characteristics were specific and included a region of increased density (50-80 H) representing the hematoma. The differential diagnosis includes tumor (lymphoma or melanoma) and inflammatory disease (Crohn disease or pancreatic cyst.)

[Pathological and biochemical studies of 30 Niigata autopsy cases related to Minamata disease].

PubMed

Eto, Komyo; Takahashi, Hitoshi; Kakita, Akiyoshi; Tokunaga, Hidehiro; Yasutake, Akira; Nakano, Atsuhiro; Sawada, Masumi; Kinjo, Yoshihide

2007-01-01

To reevaluate pathologically and biochemically 30 autopsy cases related to Minamata disease (MD) in Niigata Prefecture (NP) and compare the findings with those of autopsy cases related to MD in Kumamoto Prefecture (KP). Recently, a set of pathological materials of these 30 autopsy cases has been sent from the Brain Research Institute at the University of Niigata to the National Institute for Minamata Disease (NIMD). The materials from each autopsy case were reexamined at the NIMD. There were no postnatal and fetal cases of MD in the NP autopsy materials. The contents of total mercury (T-Hg), methylmercury (Me-Hg), inorganic mercury (I-Hg) and selenium were measured in the organs of cerebrum, cerebellum, liver and kidney. The contents of T-Hg, Me-Hg and I-Hg were much higher in two cases than in controls. The pathological findings leading to the diagnosis of MD in the NP cases were essentially the same as those in KP, including the peripheral nerve lesions. In the most severely affected case of MD in NP, formation of multiple vacuoles of various sizes was observed in the cerebellar cortex, which was never encountered in the KP cases. The KP lesions were similar to that observed in an acute case of Me-Hg-treated common marmoset studied in the NIMD. The pathological features were essentially the same between the adult cases of MD in NP and KP.

Parkin disease: a clinicopathologic entity?

PubMed

Doherty, Karen M; Silveira-Moriyama, Laura; Parkkinen, Laura; Healy, Daniel G; Farrell, Michael; Mencacci, Niccolo E; Ahmed, Zeshan; Brett, Francesca M; Hardy, John; Quinn, Niall; Counihan, Timothy J; Lynch, Timothy; Fox, Zoe V; Revesz, Tamas; Lees, Andrew J; Holton, Janice L

2013-05-01

Mutations in the gene encoding parkin (PARK2) are the most common cause of autosomal recessive juvenile-onset and young-onset parkinsonism. The few available detailed neuropathologic reports suggest that homozygous and compound heterozygous parkin mutations are characterized by severe substantia nigra pars compacta neuronal loss. To investigate whether parkin-linked parkinsonism is a different clinicopathologic entity to Parkinson disease (PD). We describe the clinical, genetic, and neuropathologic findings of 5 unrelated cases of parkin disease and compare them with 5 pathologically confirmed PD cases and 4 control subjects. The PD control cases and normal control subjects were matched first for age at death then disease duration (PD only) for comparison. Presenting signs in the parkin disease cases were hand or leg tremor often combined with dystonia. Mean age at onset was 34 years; all cases were compound heterozygous for mutations of parkin. Freezing of gait, postural deformity, and motor fluctuations were common late features. No patients had any evidence of cognitive impairment or dementia. Neuronal counts in the substantia nigra pars compacta revealed that neuronal loss in the parkin cases was as severe as that seen in PD, but relative preservation of the dorsal tier was seen in comparison with PD (P = .04). Mild neuronal loss was identified in the locus coeruleus and dorsal motor nucleus of the vagus, but not in the nucleus basalis of Meynert, raphe nucleus, or other brain regions. Sparse Lewy bodies were identified in 2 cases (brainstem and cortex). These findings support the notion that parkin disease is characterized by a more restricted morphologic abnormality than is found in PD, with predominantly ventral nigral degeneration and absent or rare Lewy bodies.

Exogenous lipoid pneumonia – a case report of a fire-eater

PubMed Central

Pielaszkiewicz-Wydra, Magdalena; Homola-Piekarska, Bożena; Szcześniak, Ewa; Ciołek-Zdun, Monika; Fall, Andrzej

2012-01-01

Summary Background: Exogenous lipoid pneumonia is an uncommon condition caused by inhalation or aspiration of a fatty substance. It usually presents as chronic respiratory illness mimicking interstitial lung diseases. Acute exogenous lipoid pneumonia is uncommon and typically is caused by an episode of aspiration of a large quantity of a petroleum-based product. Radiological findings vary and may imitate many other diseases. Case Report: We present a rare case of acute exogenous lipoid pneumonia in a fire-eater who aspirated liquid paraffin during his flame-blowing show (fire-eater’s lung). He was admitted to the hospital with productive cough, fever, hemoptysis, chest pain and dyspnea. Diagnosis was made on the basis of history of exposure to fatty substance, characteristic findings in CT examination and presence of lipid-laden macrophages in bronchoalveolar lavage fluid. Conclusions: Acute exogenous lipoid pneumonia is a very rare disease that typically occurs in fire-eaters and is called a fire-eater’s lung. The diagnosis is made on the basis of typical history and radiological, as well as histopathological findings. PMID:23269939

Cardiovascular studies in the mucopolysaccharidoses.

PubMed Central

Nelson, J; Shields, M D; Mulholland, H C

1990-01-01

Cardiovascular studies were performed on 22 patients with mucopolysaccharidosis ascertained from an epidemiological study on the mucopolysaccharidoses in Northern Ireland. None of the patients had attended a cardiologist before the study. The main echocardiographical findings were thickening of the interventricular septum and left ventricular posterior wall in the absence of ECG evidence of ventricular hypertrophy. Moreover, reduced QRS voltages were present in the majority of the patients (77%) and some had reduced shortening fraction (33%). These findings suggest an infiltrative cardiomyopathy owing to mucopolysaccharide deposition as a cause of the cardiac thickening rather than true ventricular hypertrophy. Thickening of the mitral valve was present in one case and thickening of the aortic valve in two cases. Involvement of the other heart valves was minimal and aortic valve disease was not found in any of the cases of Morquio's disease type A. In conclusion, the clinical, ECG, and chest x ray findings and echocardiographical evidence for valvular involvement were significantly less than in other studies. Hence, the incidence of clinically significant cardiovascular disease in patients with mucopolysaccharidosis has probably been overestimated. PMID:2108248

Intracranial imaging of uncommon diseases is more frequently reported in clinical publications than in radiology publications.

PubMed

Lehman, V T; Doolittle, D A; Hunt, C H; Eckel, L J; Black, D F; Schwartz, K M; Diehn, F E

2014-01-01

Descriptions of uncommon diseases with intracranial imaging abnormalities are often difficult to find in the radiology literature. We hypothesized that reported imaging findings of such conditions in the recent literature were more frequent in clinical compared with radiology journals. PubMed searches from December 1, 2007 to December 1, 2012 were performed for 5 uncommon CNS diseases with intracranial imaging manifestations: 1) Susac syndrome; 2) amyloid β-related angiitis; 3) Parry-Romberg syndrome/en coup de sabre; 4) transient lesion of the splenium of the corpus callosum; and 5) reversible cerebral vasoconstriction syndrome. Articles were classified as a case report, case series, or original research. Journals were categorized as radiology or clinical. The 1- and 5-year Impact Factors of the journals were recorded. Two hundred two articles were identified for the 5 diseases, including 151 (74%) case reports, 26 case series (13%), and 25 original research articles (13%); 179 (89%) were published in nonradiology journals, compared with 23 (11%) in radiology journals. There was no significant difference between the mean 1- and 5-year Impact Factors of the radiology and clinical journals. Recent reports of the selected uncommon diseases with intracranial manifestations are more frequent in clinical journals when compared with dedicated radiology publications. Most publications are case reports. Radiologists should review both radiology and clinical journals when reviewing imaging features of uncommon diseases affecting the brain. Lack of reporting on such disease in the radiology literature may have significant practice, educational, and research implications for the radiology community.

Case Finding Using Syndromic Surveillance Data During an Outbreak of Shiga Toxin-Producing Escherichia coli O26 Infections, Oregon, 2015.

PubMed

Hines, Jonas Z; Bancroft, June; Powell, Melissa; Hedberg, Katrina

Shiga toxin-producing Escherichia coli (STEC) causes an estimated 265 000 infections in the United States annually. Of emerging non-O157:H7 STEC serotypes, O26 is the most commonly recognized. During an outbreak of STEC O26 in Oregon in 2015, we used syndromic surveillance data to supplement case finding by laboratory reporting. From 157 records retrieved by querying syndromic surveillance data, we detected 4 confirmed and 5 suspected cases. However, none of the suspected cases were confirmed by stool culture, and by the time that the data were being analyzed, the confirmed cases were already known to investigators. Syndromic surveillance data can potentially supplement case finding during outbreaks of foodborne disease. To be an effective case-finding strategy, timely completion of all steps, including collecting specimens from suspected cases, should be performed in real time.

Lyme Disease Manifestations in the Foot and Ankle: A Retrospective Case Series.

PubMed

Miller, Jason R; Dunn, Karl W; Braccia, Domenick; Ciliberti, Louis J; Becker, Dina K; Hollinger, Joshua K; Brand, Shelley M

Lyme disease is the result of Borrelia burgdorferi bacterial infection after exposure from a tick bite. A pathognomonic finding in early-stage Lyme disease is an expanding, red macular ring known as erythema migrans. Lyme arthritis is a late-stage manifestation of this disease, affecting the large, weightbearing joints with intermittent pain and swelling. The existing data on Lyme disease and subsequent arthritis have reported manifestations in the lower extremity, primarily in the knee and ankle and less commonly the small joints of the foot. We present a retrospective case series of 11 cases of painful arthritis in the foot and ankle with confirmatory Lyme disease testing. Copyright © 2015 American College of Foot and Ankle Surgeons. Published by Elsevier Inc. All rights reserved.

Scintigraphic Profile of Thyrotoxicosis Patients and Correlation with Biochemical and Sonological Findings

PubMed Central

Mohan, Abhish; Kumar, PG; Puri, Pankaj

2017-01-01

Introduction Thyrotoxicosis is a spectrum of disorder with a rather common clinical presentation with different aetiologies. The aetiological diagnosis is important as the management differs. It is essential to accurately diagnose the cause before starting treatment. Scintigraphy of thyroid helps in differentiating accurately the various causes. USG is routinely being advocated and T3/T4 ratio has also been used. Aim This study aims to evaluate the scintigraphic profile of thyrotoxicosis patients and to correlate biochemical and USG findings with scintigraphy. Materials and Methods A total of 60 newly diagnosed thyrotoxicosis patients based on biochemical reports were included in the study. They underwent further evaluation with ultrasonography and 99mTc scintigraphy. Results Of 60 patients of thyrotoxicosis, 45 cases were of Grave’s disease, 10 cases were of thyroiditis and five cases were of Toxic Multinodular Goiter (MNG). The clinical characteristics were helpful in establishing the diagnosis in only six (10%) patients who presented with classic features of Grave’s disease with ophthalmopathy. T3/T4 ratio greater than 20 was seen only in 29 (66%) patients of Grave’s disease and also in three (33.33%) of thyroiditis patients. USG had a sensitivity and specificity of 81.82% and 93.75% in diagnosing Graves’ disease and 100% and 82.4% in diagnosing thyroiditis respectively. Conclusion Clinical findings do not help in accurately delineating aetiological diagnosis of thyrotoxicosis. Serum T3/T4 ratio when used as a criterion has marked overlap between the various conditions causing thyrotoxicosis. USG has reasonable sensitivity however, misses many cases of early Grave’s disease. Follow up scintigraphy helps in a small population with resolving thyroiditis or early Grave’s disease where the initial scintiscan is normal or inconclusive. PMID:28658823

Scintigraphic Profile of Thyrotoxicosis Patients and Correlation with Biochemical and Sonological Findings.

PubMed

Avs, Anil Kumar; Mohan, Abhish; Kumar, P G; Puri, Pankaj

2017-05-01

Thyrotoxicosis is a spectrum of disorder with a rather common clinical presentation with different aetiologies. The aetiological diagnosis is important as the management differs. It is essential to accurately diagnose the cause before starting treatment. Scintigraphy of thyroid helps in differentiating accurately the various causes. USG is routinely being advocated and T3/T4 ratio has also been used. This study aims to evaluate the scintigraphic profile of thyrotoxicosis patients and to correlate biochemical and USG findings with scintigraphy. A total of 60 newly diagnosed thyrotoxicosis patients based on biochemical reports were included in the study. They underwent further evaluation with ultrasonography and 99mTc scintigraphy. Of 60 patients of thyrotoxicosis, 45 cases were of Grave's disease, 10 cases were of thyroiditis and five cases were of Toxic Multinodular Goiter (MNG). The clinical characteristics were helpful in establishing the diagnosis in only six (10%) patients who presented with classic features of Grave's disease with ophthalmopathy. T3/T4 ratio greater than 20 was seen only in 29 (66%) patients of Grave's disease and also in three (33.33%) of thyroiditis patients. USG had a sensitivity and specificity of 81.82% and 93.75% in diagnosing Graves' disease and 100% and 82.4% in diagnosing thyroiditis respectively. Clinical findings do not help in accurately delineating aetiological diagnosis of thyrotoxicosis. Serum T3/T4 ratio when used as a criterion has marked overlap between the various conditions causing thyrotoxicosis. USG has reasonable sensitivity however, misses many cases of early Grave's disease. Follow up scintigraphy helps in a small population with resolving thyroiditis or early Grave's disease where the initial scintiscan is normal or inconclusive.

Hantavirus pulmonary syndrome clinical findings: evaluating a surveillance case definition.

PubMed

Knust, Barbara; Macneil, Adam; Rollin, Pierre E

2012-05-01

Clinical cases of hantavirus pulmonary syndrome (HPS) can be challenging to differentiate from other acute respiratory diseases, which can lead to delays in diagnosis, treatment, and disease reporting. Rapid onset of severe disease occurs, at times before diagnostic test results are available. This study's objective was to examine the clinical characteristics of patients that would indicate HPS to aid in detection and reporting. Test results of blood samples from U.S. patients suspected of having HPS submitted to the Centers for Disease Control and Prevention from 1998-2010 were reviewed. Patient information collected by case report forms was compared between HPS-confirmed and test-negative patients. Diagnostic sensitivity, specificity, predictive values, and likelihood ratios were calculated for individual clinical findings and combinations of variables. Of 567 patients included, 36% were HPS-confirmed. Thrombocytopenia, chest x-rays with suggestive signs, and receiving supplemental oxygenation were highly sensitive (>95%), while elevated hematocrit was highly specific (83%) in detecting HPS. Combinations that maximized sensitivity required the presence of thrombocytopenia. Using a national sample of suspect patients, we found that thrombocytopenia was a highly sensitive indicator of HPS and should be included in surveillance definitions for suspected HPS. Using a sensitive suspect case definition to identify potential HPS patients that are confirmed by highly specific diagnostic testing will ensure accurate reporting of this disease.

Efficacy of long-term intralesional triamcinolone in Morbihan's disease and its possible association with mast cell infiltration.

PubMed

Tsiogka, Aikaterini; Koller, Josef

2018-04-23

Morbihan's disease is characterized by chronic persistent facial edema of the upper half of the face, absence of typical diagnostic findings, and refractoriness to treatment. A 44-year-old man was diagnosed with Morbihan's disease based on clinical signs and histopathology, which showed dermal edema in upper dermis, discrete lymphocytic infiltrate without granulomatous reaction, and mast cell infiltration. After long-term therapy with intralesional triamcinolone a remarkable objective and subjective clinical response was observed. Reported cases of Morbihan's disease are reviewed, with respect to their treatment and histopathological findings. Mast cell infiltration has been observed on histopathology in most patients who responded to intralesional triamcinolone, suggesting a possible marker of response. The long-lasting response seen in our case indicates the efficacy of intralesional triamcinolone in this rare condition. © 2018 Wiley Periodicals, Inc.

Childhood interstitial lung diseases: an 18-year retrospective analysis.

PubMed

Soares, Jennifer J; Deutsch, Gail H; Moore, Paul E; Fazili, Mohammad F; Austin, Eric D; Brown, Rebekah F; Sokolow, Andrew G; Hilmes, Melissa A; Young, Lisa R

2013-10-01

Childhood interstitial lung diseases (ILD) occur in a variety of clinical contexts. Advances in the understanding of disease pathogenesis and use of standardized terminology have facilitated increased case ascertainment. However, as all studies have been performed at specialized referral centers, the applicability of these findings to general pulmonary practice has been uncertain. The objective of this study was to determine the historical occurrence of childhood ILD to provide information reflecting general pediatric pulmonary practice patterns. Childhood ILD cases seen at Vanderbilt Children's Hospital from 1994 to 2011 were retrospectively reviewed and classified according to the current pediatric diffuse lung disease histopathologic classification system. A total of 93 cases were identified, of which 91.4% were classifiable. A total of 68.8% (64/93) of subjects underwent lung biopsy in their evaluations. The largest classification categories were disorders related to systemic disease processes (24.7%), disorders of the immunocompromised host (24.7%), and disorders more prevalent in infancy (22.6%). Eight cases of neuroendocrine cell hyperplasia of infancy (NEHI) were identified, including 5 that were previously unrecognized before this review. Our findings demonstrate the general scope of childhood ILD and that these cases present within a variety of pediatric subspecialties. Retrospective review was valuable in recognizing more recently described forms of childhood ILD. As a significant portion of cases were classifiable based on clinical, genetic, and/or radiographic criteria, we urge greater consideration to noninvasive diagnostic approaches and suggest modification to the current childhood ILD classification scheme to accommodate the increasing number of cases diagnosed without lung biopsy.

Chronic Mastitis in Egypt and Morocco: differentiating between idiopathic granulomatous mastitis and IgG4-related disease

PubMed Central

Allen, Steven G.; Soliman, Amr S.; Toy, Kathleen; Omar, Omar S.; Youssef, Tamer; Karkouri, Mehdi; Ayad, Essam; Abdel-Aziz, Azza; Hablas, Ahmed; Tahri, Ali; Oltean, Hanna N.; Kleer, Celina G.; Merajver, Sofia D.

2016-01-01

Idiopathic granulomatous mastitis (IGM) is a benign, frequently severe chronic inflammatory lesion of the breast. Its etiology remains unknown and reported cases vary in their presentation and histologic findings with an optimal treatment algorithm yet to be described owing mainly to the disease’s heterogeneity. IgG4-related disease (IgG4-RD) is a newly recognized systemic fibroinflammatory condition characterized by a dense lymphoplasmacytic infiltrate with many IgG4-positive plasma cells, storiform fibrosis, and obliterative phlebitis. Immunosuppressive therapy is considered to be an effective first-line therapy for IgG4-RD. We sought to clarify and classify chronic mastitis according to the histologic findings of IgG4-RD mastitis with respect to IGM and to develop a robust diagnostic framework to help select patients for optimal treatment strategies. Using the largest collection to date (43 cases from Egypt and Morocco), we show that despite sharing many features, IGM and IgG4-RD mastitis are separate diseases. To diagnostically separate the diseases, we created a classification schema – termed the Michigan Classification – based upon our large series of cases, the consensus statement on IgG4-RD, and the histologic description of IGM in the literature. Using our classification, we discerned 17 cases of IgG4-RD and 8 cases of IGM among the 43 chronic mastitis cases, with 18 indeterminate cases. Thus our Michigan Classification can form the basis of rational stratification of chronic mastitis patients between these two clinically and histopathologically heterogeneous diseases. PMID:27279578

[Toxocariasis, a neglected disease in Switzerland ?

PubMed

Duréault, Amélie; Perez Valdes, Carlos; Weber, Lalensia; Ogna, Adam; Sempoux, Christine; Manuel, Oriol; Delaloye, Julie

2017-04-12

Toxocariasis is a zoonotic disease that occurs when humans are infected by the parasites Toxocara canis or Toxocara cati. Toxocariasis is highly prevalent in tropical areas, but can also be found in industrialized countries, particularly in rural areas. Clinical presentation can range from asymptomatic infection to more severe disease. Diagnosis of toxocariasis is based on suggestive clinical findings, eosinophilia and a positive serological testing. Albendazole represents the first-line treatment, associated with corticosteroids in case of severe disease. Here we describe three clinical cases of toxocariasis in order to illustrate the clinical presentation, diagnosis and treatment of this unrecognized disease.

Chronic obstructive pulmonary disease case finding by community pharmacists: a potential cost-effective public health intervention.

PubMed

Wright, David; Twigg, Michael; Thornley, Tracey

2015-02-01

This study aims to pilot a community pharmacy chronic obstructive pulmonary disease (COPD) case finding service in England, estimating costs and effects. Patients potentially at risk of COPD were screened with validated tools. Smoking cessation was offered to all smokers identified as potentially having undiagnosed COPD. Cost and effects of the service were estimated. Twenty-one community pharmacies screened 238 patients over 9 months. One hundred thirty-five patients were identified with potentially undiagnosed COPD; 88 were smokers. Smoking cessation initiation provided a project gain of 38.62 life years, 19.92 quality-adjusted life years and a cost saving of £392.67 per patient screened. COPD case finding by community pharmacists potentially provides cost-savings and improves quality of life. © 2014 The Authors. International Journal of Pharmacy Practice published by John Wiley & Sons Ltd on behalf of Royal Pharmaceutical Society.

Sporadic Jakob-Creutzfeldt Disease Presenting as Primary Progressive Aphasia

PubMed Central

Johnson, David Y.; Dunkelberger, Diana L.; Henry, Maya; Haman, Aissatou; Greicius, Michael D.; Wong, Katherine; DeArmond, Stephen J.; Miller, Bruce L.; Gorno-Tempini, Maria Luisa; Geschwind, Michael D.

2015-01-01

Objective To report the clinical, neuropsychological, linguistic, imaging, and neuropathological features of a unique case of sporadic Jakob-Creutzfeldt disease in which the patient presented with a logopenic variant of primary progressive aphasia. Design Case report. Setting Large referral center for atypical memory and aging disorders, particularly Jakob-Creutzfeldt disease. Patient Patient presenting with logopenic variant primary progressive aphasia initially thought to be due to Alzheimer disease. Results Despite the long, slow 3.5-year course, the patient was shown to have pathology-proven sporadic Jakob-Creutzfeldt disease. Conclusions These findings expand the differential of primary progressive aphasia to include prion disease. PMID:23400721

(18)F-FDG PET/CT findings in a case with HIV (-) Kaposi sarcoma.

PubMed

Ozdemir, E; Poyraz, N Y; Keskin, M; Kandemir, Z; Turkolmez, S

2014-01-01

Although mucocutaneous sites are the most frequently encountered sites of involvement, Kaposi Sarcoma (KS) may also occasionally involve the breast and the skeletal, endocrine, urinary and nervous systems.. Various imaging modalities may be used to delineate the extent of the disease by detecting unexpected sites of involvement. Herein, we report a case of classical type KS, in whom staging with (18)F-FDG PET/CT imaging disclosed widespread disease and unexpected findings of bone and salivary gland involvement. Copyright © 2013 Elsevier España, S.L. and SEMNIM. All rights reserved.

[Q fever : A rare differential diagnosis of granulomatous disease].

PubMed

Hippe, S; Kellner, N; Seliger, G; Wiechmann, V; Grünewald, T

2016-05-01

Q fever is a worldwide distributed zoonotic disease with a mostly benign course, which regularly reoccurs in Germany. This report is about a patient with sporadic serologically proven Q fever, which also showed typical histopathological findings with nonspecific granulomatous hepatitis, usually seen in acute disease. The bone marrow biopsy revealed so-called doughnut granulomas, which are not pathognomonic but a typical finding in Q fever. This case report impressively underlines that the histomorphological findings can make a decisive contribution to the clarification by extended differential diagnostics, even though it plays a subordinate role in the routine diagnostics of disseminated Q fever.

[Epidemiologic surveillance in occupational bladder cancer: a Tuscan experience].

PubMed

Cosentino, F; Arena, L; Banchini, L; Benvenuti, L; Calabretta, V M; Carnevali, C; Cristaudo, A; Farina, G; Foddis, R; Iaia, T E; Lemmi, M; Ottenga, F; Parrini, L; Piccini, G; Serretti, N; Talini, D

2007-01-01

The percentage of bladder cancer as occupational disease in West-Europe is of 5/10%, but only a few amount of them are recognized as occupational disease from INAIL. The above mentioned research project is realized in order to decrease the gap between expected and claimed cases of occupational disease and it is conducted with the collaboration of ASL of Pisa, ASL of Empoli, Azienda Ospedaliera Universitaria Pisana and INAIL. 677 patients with bladder cancer were interviewed by phone, among them 64 subjects had a working experience compatible with neoplastic risks because had a previous occupational exposure to aromatic amines and metal working fluids. These cases were discussed into a Medical Staff and 40 cases were considered "probable" for occupational disease, 18 "possible", 3 cases are suspended for more research, 3 cases are considered "no professional disease". The research allows finding out a great number of bladder cancer, increasing the total amount of workers with occupational disease. The integrated approach with the collaboration among different institutions is surely the best way to allow and guarantee a suitable and right protection of workers with occupational disease.

Maternal Autoimmune Disease and Birth Defects in the National Birth Defects Prevention Study

PubMed Central

Howley, Meredith M.; Browne, Marilyn L.; Van Zutphen, Alissa R.; Richardson, Sandra D.; Blossom, Sarah J.; Broussard, Cheryl S.; Carmichael, Suzan L.; Druschel, Charlotte M.

2017-01-01

Background Little is known about the association between maternal autoimmune disease or its treatment and the risk of birth defects. We examined these associations using data from the National Birth Defects Prevention Study, a multi-site, population-based, case–control study. Methods Analyses included 25,116 case and 9897 unaffected control infants with estimated delivery dates between 1997 and 2009. Information on autoimmune disease, medication use, and other pregnancy exposures was collected by means of telephone interview. Adjusted odds ratios (ORs) and 95% confidence intervals (CIs) were estimated for birth defects with five or more exposed cases; crude ORs and exact 95% CIs were estimated for birth defects with three to four exposed cases. Results Autoimmune disease was reported by 373 mothers (279 case and 94 control mothers). The majority of birth defects evaluated were not associated with autoimmune disease; however, a statistically significant association between maternal autoimmune disease and encephalocele was observed (OR, 4.64; 95% CI, 1.95–11.04). Eighty-two mothers with autoimmune disease used an immune modifying/suppressing medication during pregnancy; this was associated with encephalocele (OR, 7.26; 95% CI, 1.37–24.61) and atrial septal defects (OR, 3.01; 95% CI, 1.16–7.80). Conclusion Our findings suggest maternal autoimmune disease and treatment are not associated with the majority of birth defects, but may be associated with some defects, particularly encephalocele. Given the low prevalence of individual autoimmune diseases and the rare use of specific medications, we were unable to examine associations of specific autoimmune diseases and medications with birth defects. Other studies are needed to confirm these findings. PMID:27891777

Pyomyositis of tensor fascia lata: a case report

PubMed Central

Ozkan, Korhan; Unay, Koray; Ugutmen, Ender; Eren, Abdullah; Eceviz, Engin; Saygý, Baransel

2008-01-01

Introduction Pyomyositis is a disease in which an abscess is formed deep within large striated muscles. Case presentation We report the case of a 10-year-old boy who presented with fever and a painful hip and was subsequently diagnosed with pyomyositis of the tensor fascia lata. In children with clinical and laboratory findings of inflammation in the vicinity of the hip joint, the differential diagnosis includes transient synovitis, an early stage of Legg-Calvé-Perthes disease, infectious arthritis of the hip, rheumatologic diseases and extracapsular infection such as osteomyelitis. Conclusion To the best of the authors' knowledge, this is the first report of pyomyositis of the tensor fascia lata. Although pyomyositis is a rare disease and the differential diagnosis includes a variety of other commonly observed diseases, pyomyositis should be considered in cases where children present with fever, leukocytosis and localized pain. PMID:18652647

Sex and gender differences in chronic kidney disease: progression to end-stage renal disease and haemodialysis.

PubMed

Cobo, Gabriela; Hecking, Manfred; Port, Friedrich K; Exner, Isabella; Lindholm, Bengt; Stenvinkel, Peter; Carrero, Juan Jesús

2016-07-01

Sex and gender differences are of fundamental importance in most diseases, including chronic kidney disease (CKD). Men and women with CKD differ with regard to the underlying pathophysiology of the disease and its complications, present different symptoms and signs, respond differently to therapy and tolerate/cope with the disease differently. Yet an approach using gender in the prevention and treatment of CKD, implementation of clinical practice guidelines and in research has been largely neglected. The present review highlights some sex- and gender-specific evidence in the field of CKD, starting with a critical appraisal of the lack of inclusion of women in randomized clinical trials in nephrology, and thereafter revisits sex/gender differences in kidney pathophysiology, kidney disease progression, outcomes and management of haemodialysis care. In each case we critically consider whether apparent discrepancies are likely to be explained by biological or psycho-socioeconomic factors. In some cases (a few), these findings have resulted in the discovery of disease pathways and/or therapeutic opportunities for improvement. In most cases, they have been reported as merely anecdotal findings. The aim of the present review is to expose some of the stimulating hypotheses arising from these observations as a preamble for stricter approaches using gender for the prevention and treatment of CKD and its complications. © 2016 The Author(s). Published by Portland Press Limited on behalf of the Biochemical Society.

Crohn's disease-associated interstitial lung disease mimicking sarcoidosis: a case report and review of the literature.

PubMed

Thao, Choua; Lagstein, Amir; Allen, Tadashi; Dincer, Huseyin Erhan; Kim, Hyun Joo

2016-10-07

Respiratory involvement in Crohn's disease (CD) is a rare manifestation known to involve the large and small airways, lung parenchyma, and pleura. The clinical presentation is nonspecific, and diagnostic tests can mimic other pulmonary diseases, posing a diagnostic challenge and delay in treatment. We report a case of a 60-year-old female with a history of CD and psoriatic arthritis who presented with dyspnea, fever, and cough with abnormal radiological findings. Diagnostic testing revealed an elevated CD4:CD8 ratio in the bronchoalveolar lavage fluid, and cryoprobe lung biopsy results showed non-necrotizing granulomatous inflammation. We describe here the second reported case of pulmonary involvement mimicking sarcoidosis in Crohn's disease and a review of the literature on the approaches to making a diagnosis of CD-associated interstitial lung disease.

[Headache case that responded to alendronate treatment in Paget's disease].

PubMed

Bozkurt, Dilek; Hiz, Fazilet; Çinar, Meral; Can, Meltem

2012-01-01

Paget's disease of the bone is a chronic, focal skeletal disease characterized by bone pain and deformity, pathological fractures and neurological symptoms such as headache, hearing loss and tinnitus, etc. The frequency of the disease increases in later ages. Viral and genetical factors play a role in the etiology. The majority of cases are asymptomatic. It is often diagnosed with an incidental finding on radiography or with an unexpected high serum alkaline phosphatase level. Bone fractures or neurological complications can negatively affect the quality of life. Early diagnosis and treatment are thus very important. Bisphosphonates are the most frequently used medication in the treatment. We present a case who sought medical help because of headache and was diagnosed as Paget's disease. Neurological complications and the diagnosis and treatment of Paget's disease are reviewed in the literature.

Development and validation of case-finding algorithms for the identification of patients with anti-neutrophil cytoplasmic antibody-associated vasculitis in large healthcare administrative databases.

PubMed

Sreih, Antoine G; Annapureddy, Narender; Springer, Jason; Casey, George; Byram, Kevin; Cruz, Andy; Estephan, Maya; Frangiosa, Vince; George, Michael D; Liu, Mei; Parker, Adam; Sangani, Sapna; Sharim, Rebecca; Merkel, Peter A

2016-12-01

The aim of this study was to develop and validate case-finding algorithms for granulomatosis with polyangiitis (Wegener's, GPA), microscopic polyangiitis (MPA), and eosinophilic GPA (Churg-Strauss, EGPA). Two hundred fifty patients per disease were randomly selected from two large healthcare systems using the International Classification of Diseases version 9 (ICD9) codes for GPA/EGPA (446.4) and MPA (446.0). Sixteen case-finding algorithms were constructed using a combination of ICD9 code, encounter type (inpatient or outpatient), physician specialty, use of immunosuppressive medications, and the anti-neutrophil cytoplasmic antibody type. Algorithms with the highest average positive predictive value (PPV) were validated in a third healthcare system. An algorithm excluding patients with eosinophilia or asthma and including the encounter type and physician specialty had the highest PPV for GPA (92.4%). An algorithm including patients with eosinophilia and asthma and the physician specialty had the highest PPV for EGPA (100%). An algorithm including patients with one of the diagnoses (alveolar hemorrhage, interstitial lung disease, glomerulonephritis, and acute or chronic kidney disease), encounter type, physician specialty, and immunosuppressive medications had the highest PPV for MPA (76.2%). When validated in a third healthcare system, these algorithms had high PPV (85.9% for GPA, 85.7% for EGPA, and 61.5% for MPA). Adding the anti-neutrophil cytoplasmic antibody type increased the PPV to 94.4%, 100%, and 81.2% for GPA, EGPA, and MPA, respectively. Case-finding algorithms accurately identify patients with GPA, EGPA, and MPA in administrative databases. These algorithms can be used to assemble population-based cohorts and facilitate future research in epidemiology, drug safety, and comparative effectiveness. Copyright © 2016 John Wiley & Sons, Ltd. Copyright © 2016 John Wiley & Sons, Ltd.

Development and Validation of Case-Finding Algorithms for the Identification of Patients with ANCA-Associated Vasculitis in Large Healthcare Administrative Databases

PubMed Central

Sreih, Antoine G.; Annapureddy, Narender; Springer, Jason; Casey, George; Byram, Kevin; Cruz, Andy; Estephan, Maya; Frangiosa, Vince; George, Michael D.; Liu, Mei; Parker, Adam; Sangani, Sapna; Sharim, Rebecca; Merkel, Peter A.

2016-01-01

Purpose To develop and validate case-finding algorithms for granulomatosis with polyangiitis (Wegener’s, GPA), microscopic polyangiitis (MPA), and eosinophilic granulomatosis with polyangiitis (Churg-Strauss, EGPA). Methods 250 patients per disease were randomly selected from 2 large healthcare systems using the International Classification of Diseases version 9 (ICD9) codes for GPA/EGPA (446.4) and MPA (446.0). 16 case-finding algorithms were constructed using a combination of ICD9 code, encounter type (inpatient or outpatient), physician specialty, use of immunosuppressive medications, and the anti-neutrophil cytoplasmic antibody (ANCA) type. Algorithms with the highest average positive predictive value (PPV) were validated in a third healthcare system. Results An algorithm excluding patients with eosinophilia or asthma and including the encounter type and physician specialty had the highest PPV for GPA (92.4%). An algorithm including patients with eosinophilia and asthma and the physician specialty had the highest PPV for EGPA (100%). An algorithm including patients with one of the following diagnoses: alveolar hemorrhage, interstitial lung disease, glomerulonephritis, acute or chronic kidney disease, the encounter type, physician specialty, and immunosuppressive medications had the highest PPV for MPA (76.2%). When validated in a third healthcare system, these algorithms had high PPV (85.9% for GPA, 85.7% for EGPA, and 61.5% for MPA). Adding the ANCA type increased the PPV to 94.4%, 100%, and 81.2% for GPA, EGPA, and MPA respectively. Conclusion Case-finding algorithms accurately identify patients with GPA, EGPA, and MPA in administrative databases. These algorithms can be used to assemble population-based cohorts and facilitate future research in epidemiology, drug safety, and comparative effectiveness. PMID:27804171

Neuro‐Sweet disease: report of the first autopsy case

PubMed Central

Kokubo, Yasumasa; Kuzuhara, Shigeki; Isoda, Kenichi; Sato, Kenji; Kawada, Norikazu; Narita, Yugo

2007-01-01

Background Neuro‐Sweet disease is a rare condition of central nervous involvement accompanied by cutaneous Sweet lesions. Neuropathological changes in neuro‐Sweet disease are unknown. Objective To describe post‐mortem findings of the first case of neuro‐Sweet disease. Results A 44‐year‐old Japanese man developed recurrent episodes of cerebral and brainstem encephalitis with cutaneous Sweet lesions from the age of 34 years. His HLA typing was B54 and Cw1, and the symptoms and MRI abnormalities markedly subsided following corticosteroid therapy. Histologically, there were multiple lesions of perivascular cuffing of small venules by macrophages without vasculitis in the thalamus, temporal lobe, basal ganglia, pons, leptomeninges or ventricular ependym. Conclusions The core neuropathological findings were: perivascular cuffing around particularly small veins; absence of granulomatous or necrotic angitis; mainly macrophage infiltration; and the thalamus being most affected. In the present case, the diagnosis of neuro‐Sweet disease was made by skin biopsy 5 years after the onset of the central neuron system symptoms. We should pay more attention to skin lesions in steroid responsive recurrent encephalitis in patients who are HLA‐B54 or Cw1 positive. PMID:17702783

Cat scratch disease presenting as acute mastoiditis.

PubMed

Cheung, Veronique Wan Fook; Moxham, J Paul

2010-01-01

To present the first published case of Cat Scratch Disease presenting as acute mastoiditis and review the relevant literature to discuss the Otolaryngologic manifestations of this disease and its treatment. A case report and literature review of the Otolaryngologic manifestations of Cat Scratch Disease. A case report of a clinical scenario followed by a standard literature review. PubMed, EMBASE, and Cochrane database were used to find articles related to the Otolaryngologic manifestations of Cat Scratch Disease. A 6 year-old female presented to the Otolaryngologist with the typical appearance of acute mastoiditis. CT Scan confirmed breakdown of the osseous septae of the mastoid and mastoidectomy was undertaken. Granulation tissue and infected lymph nodes adjacent to the mastoid cortex were positive for Cat Scratch Disease. The patient was treated expectantly and recovered uneventfully. This is the first literature report of Cat Scratch Disease presenting as an acute mastoiditis.

Use abstracted patient-specific features to assist an information-theoretic measurement to assess similarity between medical cases

PubMed Central

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

2008-01-01

Inter-case similarity metrics can potentially help find similar cases from a case base for evidence-based practice. While several methods to measure similarity between cases have been proposed, developing an effective means for measuring patient case similarity remains a challenging problem. We were interested in examining how abstracting could potentially assist computing case similarity. In this study, abstracted patient-specific features from medical records were used to improve an existing information-theoretic measurement. The developed metric, using a combination of abstracted disease, finding, procedure and medication features, achieved a correlation between 0.6012 and 0.6940 to experts. PMID:18487093

Acute Transverse Myelitis at the Conus Medullaris Level After Rabies Vaccination in a Patient With Behçet's Disease

PubMed Central

Bir, Levent Sinan; Özdemir Eşmeli, Fatma; Cenikli, Utku; Erdoğan, Çağgdaş; Değirmenci, Eylem

2007-01-01

Case report: A 25-year-old man with Behçet's disease was admitted because of weakness of the lower limbs and difficulty in urination. He had received a rabies vaccination 2 months previous because he had been bitten by a dog. Findings: Clinical and laboratory findings supported acute transverse myelitis. A hyperintense lesion and expansion at the level of conus medullaris was detected on spinal magnetic resonance imaging. Conclusion: Although neurologic involvement is one of the main causes of mortality and morbidity in Behçet's disease, the factors that aggravate the involvement of the nervous system are still unclear. Vaccination may have been the factor that had activated autoimmune mechanisms in this case. To our knowledge, involvement of the conus medullaris in Behçet's disease after rabies vaccination has not been reported. PMID:17684898

Pediatric pyogenic liver abscess.

PubMed

Israeli, Rafi; Jule, Jose Ernesto; Hom, Jeffrey

2009-02-01

Pyogenic liver abscess (PLA) is a rare pediatric disease. Typically, PLA is found in adults with biliary disease. There are no typical physical findings or symptoms. Often, pathogenic organisms are not recovered for identification. This case illustrates a teenager presenting with prolonged episodes of fever and vomiting. With percutaneous drainage and month-long antibiotic therapy, the PLA resolved. This case illustrates that a high index of suspicion is needed for diagnosis.

Various hysterosalpingography findings of female genital tuberculosis: A case series

PubMed Central

Afzali, Nargess; Ahmadi, Firoozeh; Akhbari, Farnaz

2013-01-01

Background: Genital tuberculosis is a chorionic disease and mostly occurs by haematogenous spread from extra genital source like lungs, peritoneum, lymph nodes and bones. Transmission through a sexual intercourse is also possible. Since the majority of patients are in reproductive ages, involvement of fallopian tubes and endometrium cause infertility in patients. Cases: Reviewing 4 cases of female genital tuberculosis, which referred to an infertility treatment center with various symptoms, we encountered various appearances on hysterosalpingography (HSG). Conclusion: The genitourinary tract is the most common site of extra pulmonary TB. The primary focus of genital tuberculosis is fallopian tubes, which are almost always affected bilaterally but not symmetrically. Because of common involvement of fallopian tubes and endometrial cavity, disease causes infertility. Diagnosis is not easy because genital tuberculosis has a wide range of clinical and radiological manifestations with slow growing symptoms. Detailed hysterosalpingography finding may be helpful in better diagnosis of the disease. This case series aims to depict the various hystrosalpingographic appearances and pathology produced by tuberculosis and related literatures are reviewed in order to establish a better diagnostic evaluation of genital tuberculosis. PMID:24639787

Sarcocystis fayeri in skeletal muscle of horses with neuromuscular disease.

PubMed

Aleman, Monica; Shapiro, Karen; Sisó, Silvia; Williams, Diane C; Rejmanek, Daniel; Aguilar, Beatriz; Conrad, Patricia A

2016-01-01

Recent reports of Sarcocystis fayeri-induced toxicity in people consuming horse meat warrant investigation on the prevalence and molecular characterization of Sarcocystis spp. infection in horses. Sarcocysts in skeletal muscle of horses have been commonly regarded as an incidental finding. In this study, we investigated the prevalence of sarcocysts in skeletal muscle of horses with neuromuscular disease. Our findings indicated that S. fayeri infection was common in young mature horses with neuromuscular disease and could be associated with myopathic and neurogenic processes. The number of infected muscles and number of sarcocysts per muscle were significantly higher in diseased than in control horses. S. fayeri was predominantly found in low oxidative highly glycolytic myofibers. This pathogen had a high glycolytic metabolism. Common clinical signs of disease included muscle atrophy, weakness with or without apparent muscle pain, gait deficits, and dysphagia in horses with involvement of the tongue and esophagus. Horses with myositis were lethargic, apparently painful, stiff, and reluctant to move. Similar to humans, sarcocystosis and cardiomyopathy can occur in horses. This study did not establish causality but supported a possible association (8.9% of cases) with disease. The assumption of Sarcocysts spp. being an incidental finding in every case might be inaccurate. Copyright © 2015 Elsevier B.V. All rights reserved.

Graves' Disease that Developed Shortly after Surgery for Thyroid Cancer.

PubMed

Yu, Hea Min; Park, Soon Hyun; Lee, Jae Min; Park, Kang Seo

2013-09-01

Graves' disease is an autoimmune disorder that may present with various clinical manifestations of hyperthyroidism. Patients with Graves' disease have a greater number of thyroid nodules and a higher incidence of thyroid cancer compared with patients with normal thyroid activity. However, cases in which patients are diagnosed with recurrence of Graves' disease shortly after partial thyroidectomy for thyroid cancer are very rare. Here we report a case of hyperthyroid Graves' disease that occurred after partial thyroidectomy for papillary thyroid cancer. In this case, the patient developed hyperthyroidism 9 months after right hemithyroidectomy, and antithyroglobulin autoantibody and thyroid stimulating hormone receptor stimulating autoantibody were positive. Therefore, we diagnosed Graves' disease on the basis of the laboratory test results and thyroid ultrasonography findings. The patient was treated with and maintained on antithyroid drugs. The mechanism of the recurrence of Graves' disease in this patient is still unclear. The mechanism may have been the improper response of the immune system after partial thyroidectomy. To precisely determine the mechanisms in Graves' disease after partial thyroidectomy, further studies based on a greater number of cases are needed.

Magnetic resonance imaging findings of paracoccidioidomycosis in the musculoskeletal system.

PubMed

Savarese, Leonor G; Monsignore, Lucas M; de Andrade Hernandes, Mateus; Martinez, Roberto; Nogueira-Barbosa, Marcello H

2015-10-01

To describe magnetic resonance imaging (MRI) findings in musculoskeletal paracoccidioidomycosis (PCM). Retrospective case series study after IRB approval. Two musculoskeletal radiologists reviewed in consensus the MRI findings of 11 patients with microbiologically and/or pathologically proven osteoarticular PCM. The MRI evaluation included discrimination of abnormalities in joints, bones and soft tissues. Mean age of patients was 29 years (10-55 years), eight men and three women. Musculoskeletal involvement was the only or the primary presentation of the disease in seven patients (63%). Osteomyelitis was the most common presentation, with seven cases (63%). Primary arthritis was found in one patient (9%). Isolated extra-articular soft tissue PCM was found in three patients: myositis (2) and subcutaneous infection (1). All cases showed regions with signal intensity higher than or similar to the signal of muscle on T1-weighted images. Penumbra sign was present in five cases (45%). T2-weighted images showed reactive soft tissue oedema in eight cases (72%). Post-gadolinium images showed peripheral (8/9) or heterogeneous (1/9) enhancement. Synovial enhancement was present in all cases of joint involvement (6/6). Lipomatosis arborescens was documented in one case of chronic knee involvement. To our knowledge, this is the first case series describing MRI findings of musculoskeletal PCM. Musculoskeletal involvement was the primary presentation of the disease in most cases, and therefore, neoplasms were initially in the differential diagnosis. Osteomyelitis was the most common presentation, often with secondary involvement of joint and or soft tissue. © 2015 John Wiley & Sons Ltd.

Aleutian Disease: An Emerging Disease in Free-Ranging Striped Skunks (Mephitis mephitis) From California.

PubMed

LaDouceur, E E B; Anderson, M; Ritchie, B W; Ciembor, P; Rimoldi, G; Piazza, M; Pesti, D; Clifford, D L; Giannitti, F

2015-11-01

Aleutian disease virus (ADV, Amdovirus, Parvoviridae) primarily infects farmed mustelids (mink and ferrets) but also other fur-bearing animals and humans. Three Aleutian disease (AD) cases have been described in captive striped skunks; however, little is known about the relevance of AD in free-ranging carnivores. This work describes the pathological findings and temporospatial distribution in 7 cases of AD in free-ranging striped skunks. All cases showed neurologic disease and were found in a 46-month period (2010-2013) within a localized geographical region in California. Lesions included multisystemic plasmacytic and lymphocytic inflammation (ie, interstitial nephritis, myocarditis, hepatitis, meningoencephalitis, pneumonia, and splenitis), glomerulonephritis, arteritis with or without fibrinoid necrosis in several organs (ie, kidney, heart, brain, and spleen), splenomegaly, ascites/hydrothorax, and/or encephalomalacia with cerebral microangiopathy. ADV infection was confirmed in all cases by specific polymerase chain reaction and/or in situ hybridization. The results suggest that AD is an emerging disease in free-ranging striped skunks in California. © The Author(s) 2014.

Creutzfeldt-Jakob disease with Alzheimer pathology, presenting with status epilepticus following repeated partial seizures: a case report and literature review.

PubMed

Miyake, Keita; Hara, Takashi; Oshima, Etsuko; Kawada, Kiyohiro; Ishizu, Hideki; Yamauchi, Yuko; Satoh, Katsuya; Kitamoto, Tetsuyuki; Takenoshita, Shintaro; Terada, Seishi; Yamada, Norihito

2018-04-25

Creutzfeldt-Jakob disease (CJD) is a fatal neurodegenerative disease. Common first symptoms are dementia, cerebellar ataxia, visual disturbance, and psychiatric symptoms. Seizure as the first symptom of CJD is a very rare finding. We experienced an elderly woman who presented initially with status epilepticus following repeated partial seizures in the course of Alzheimer disease (AD) dementia. Anti-convulsive therapy had no effect. Autopsy revealed definite CJD with AD pathology. This is the first reported CJD case presenting with status epilepticus in the course of AD dementia.

Histopathology of femoral head donations: a retrospective review of 6161 cases.

PubMed

Mackie, Katherine E; Zhou, Ziqiang; Robbins, Peter; Bulsara, Max; Zheng, Ming H

2011-08-17

Although total hip arthroplasty is one of the most common orthopaedic surgical procedures, it remains unclear whether histopathological examination of the excised femoral head adds to the quality of patient care. We propose that assessment of femoral heads resected during total hip arthroplasty and donated for allograft use may provide a profile of femoral head pathology that benefits total hip arthroplasty patients and bone donors. We retrospectively analyzed the histological findings reported for 6161 femoral heads donated for allograft use between 1993 and 2006. Specimens obtained during total hip arthroplasty and specimens donated at death were reviewed. Follow-up investigations that resulted from abnormal histopathological findings were also reviewed. The Western Australian Cancer Registry was used to determine whether patients with a suspected neoplasm were subsequently diagnosed with such a disease. A retrospective review of the histopathological findings was conducted to evaluate and reclassify all previous observations of abnormalities. One hundred and five femoral heads demonstrated abnormal or reactive histopathological features not reported prior to surgery and were rejected for allograft use. A reactive lymphocytic infiltrate, most likely due to osteoarthritis, was the most commonly identified feature (forty-five cases). Other features observed in twenty-seven cases were also most likely due to the presence of severe osteoarthritis. Ten femoral heads demonstrated plasmacytosis, which may have been related to osteoarthritis. Two patients were diagnosed with Paget's disease, and two, with rheumatoid arthritis. Nineteen patients had a suspected neoplasm. Of these nineteen, eight cases of non-Hodgkin's lymphoma or chronic lymphocytic leukemia and one case of myelodysplastic syndrome were confirmed on further investigation. One subsequently confirmed malignancy was detected per 770 femoral heads examined. Our findings indicate that, even with a detailed medical history and careful physical examination, clinically important diseases including neoplasms and Paget's disease are observed in patients diagnosed with osteoarthritis prior to total hip arthroplasty. Histological examination plays an integral role in quality assurance in femoral head banking, and it also represents a possible early diagnostic test for bone and bone-marrow-related diseases in patients undergoing total hip arthroplasty.

Minimally symptomatic hypocalcaemia unmasking celiac disease.

PubMed

Lazaridis, A; Drosou, M E; Fontalis, A; Prousali, E; Hadwe, S E; Giouleme, O; Petidis, K

2016-11-01

Celiac disease is an autoimmune disease of the small intestine which occurs in genetically predisposed people of all ages. A large clinical spectrum of manifestations accompanies the onset of the disease with diarrhoea, flatulence and weight loss being the most common. However, findings like osteoporosis, iron deficiency, anaemia and hypocalcaemia could also insinuate the existence of the disease. We report the case of a 55-year-old man with numbness and tingling of the upper extremities due to hypocalcaemia that proved to be an uncommon case of celiac disease. A non-negligible number of adult patients with celiac disease can present with only minor and subclinical manifestations of the disease. As such, hypocalcaemia may be the sole manifestation of celiac disease. A high index of suspicion is needed for prompt diagnosis. © The Author(s) 2016.

Pretibial myxedema without ophthalmopathy: an initial presentation of Graves' disease.

PubMed

Lohiya, Sheela; Lohiya, Vipin; Stahl, Elizabeth J

2013-07-01

To report a rare case of Graves' disease without ophthalmopathy presenting with pretibial myxedema (PM) as an initial presentation. We present the clinical history, physical findings, laboratory studies and biopsy data of a 62-year-old man with a history of uncontrolled type 2 diabetes (DM2) presenting with arm and leg skin lesions in the absence of other physical findings. Histopathology confirmed PM. Graves' disease and its association with PM without Graves' ophthalmopathy and the pertinent literature are reviewed. A 60-year-old man with a history of uncontrolled DM2 presented for glycemic management. He described symptoms of anxiety, insomnia and fatigue for the last 5 to 6 months. He described diffuse chest pain, occasionally associated with palpitations, and a 50-pound weight loss. He also complained of severe itching and burning of his arms and legs for the past several months. Subsequent thyroid studies revealed hyperthyroidism suggestive of Graves' disease. In the interim, he was hospitalized for atrial flutter and was cardioverted. After being started on methimazole, his symptoms abated. His skin lesions were biopsied, and the leg biopsy was consistent with PM. He however had no lid lag or proptosis characteristic of Graves' disease. He subsequently underwent radioiodine ablation. His hyperglycemia was better control led after treatment of his hyperthyroidism. PM is an autoimmune manifestation of Graves' disease. Almost all cases of thyroid dermopathy are associated with relatively severe ophthalmopathy. Usually ophthalmopathy appears first and dermopathy much later. However, this case represents a rare initial presentation of Graves' disease with PM without ophthalmologic symptoms or findings. Hyperthyroidism is typically associated with worsening glycemic control and increased insulin requirements. In patients with diabetes having hyperthyroidism, deterioration in glycemic control should be anticipated and treatment should be adjusted accordingly. Restoration of euthyroidism will lower the blood glucose level.

Gouty involvement of the patella and extensor mechanism of the knee mimicking aggressive neoplasm. A case series.

PubMed

Kester, Christopher; Wallace, Matthew T; Jelinek, James; Aboulafia, Albert

2018-06-01

Gout is a common inflammatory crystal deposition disease that occurs in many joints throughout the body. Active gout is most often associated with painful synovitis causing searing joint pains, but gout can also produce large masses of space-occupying deposits called tophi. Tophi are most frequently seen in juxta-articular locations with or without bony erosion and are often misdiagnosed as degenerative joint disease. Soft tissue deposits and tendon involvement are also known manifestations of gout, but can present with indeterminate and alarming findings on imaging. We present three cases of tophaceous gout mimicking aggressive neoplasms in the extensor mechanism of the knee. All cases presented as extensor tendon masses eroding into the patella, with imaging findings initially concerning for primary musculoskeletal malignancy.

Case of possible multiple system atrophy with a characteristic imaging finding of open bladder neck during storage phase as an initial sign.

PubMed

Zhang, Lu; Haga, Nobuhiro; Ogawa, Soichiro; Matsuoka, Kanako; Koguchi, Tomoyuki; Akaihata, Hidenori; Hata, Junya; Kataoka, Masao; Ishibashi, Kei; Kojima, Yoshiyuki

2017-11-01

Multiple system atrophy is a neurodegenerative disease that affects autonomic and motor systems. Patients with multiple system atrophy usually experience lower urinary tract symptoms, which sometimes appear as an initial symptom before the emergence of the generalized symptoms. An open bladder neck during the filling phase on video urodynamic study is one characteristic imaging finding after the diagnosis of multiple system atrophy, but has not previously been reported at an early phase of the disease. We report a case in which an open bladder neck was observed on several imaging modalities before generalized symptoms emerged. Because occult neurogenic bladder might exist in patients whose lower urinary tract symptoms are resistant to pharmacotherapy, we report this case to raise awareness of the importance of sufficient imaging evaluations. An open bladder neck might be an important imaging finding for diagnosing multiple system atrophy, irrespective of the presence of generalized symptoms. This finding could help avoid false diagnosis and unnecessary treatment. © 2017 The Japanese Urological Association.

Movement and Other Neurodegenerative Syndromes in Patients with Systemic Rheumatic Diseases: A Case Series of 8 Patients and Review of the Literature.

PubMed

Menezes, Rikitha; Pantelyat, Alexander; Izbudak, Izlem; Birnbaum, Julius

2015-08-01

Patients with rheumatic diseases can present with movement and other neurodegenerative disorders. It may be underappreciated that movement and other neurodegenerative disorders can encompass a wide variety of disease entities. Such disorders are strikingly heterogeneous and lead to a wider spectrum of clinical injury than seen in Parkinson's disease. Therefore, we sought to stringently phenotype movement and other neurodegenerative disorders presenting in a case series of rheumatic disease patients. We integrated our findings with a review of the literature to understand mechanisms which may account for such a ubiquitous pattern of clinical injury.Seven rheumatic disease patients (5 Sjögren's syndrome patients, 2 undifferentiated connective tissue disease patients) were referred and could be misdiagnosed as having Parkinson's disease. However, all of these patients were ultimately diagnosed as having other movement or neurodegenerative disorders. Findings inconsistent with and more expansive than Parkinson's disease included cerebellar degeneration, dystonia with an alien-limb phenomenon, and nonfluent aphasias.A notable finding was that individual patients could be affected by cooccurring movement and other neurodegenerative disorders, each of which could be exceptionally rare (ie, prevalence of ∼1:1000), and therefore with the collective probability that such disorders were merely coincidental and causally unrelated being as low as ∼1-per-billion. Whereas our review of the literature revealed that ubiquitous patterns of clinical injury were frequently associated with magnetic resonance imaging (MRI) findings suggestive of a widespread vasculopathy, our patients did not have such neuroimaging findings. Instead, our patients could have syndromes which phenotypically resembled paraneoplastic and other inflammatory disorders which are known to be associated with antineuronal antibodies. We similarly identified immune-mediated and inflammatory markers of injury in a psoriatic arthritis patient who developed an amyotrophic lateral sclerosis (ALS)-plus syndrome after tumor necrosis factor (TNF)-inhibitor therapy.We have described a diverse spectrum of movement and other neurodegenerative disorders in our rheumatic disease patients. The widespread pattern of clinical injury, the propensity of our patients to present with co-occurring movement disorders, and the lack of MRI neuroimaging findings suggestive of a vasculopathy collectively suggest unique patterns of immune-mediated injury.

[Complicated jejunoileal diverticular disease: a 12 cases' serie and literature review].

PubMed

López Marcano, Aylhin Joana; Ramia, José Manuel; De la Plaza Llamas, Roberto; Alonso, Soledad; Gonzales Aguilar, Johnny David; Kühnhardt Barrantes, Andree Wolfgang

2017-01-01

To perform a retrospective analysis of a series of complicated JID (jejunoileal diverticulitis) cases surgically treated in our service during the period from 2002 to 2015. We treated 12 cases of jejunoileal complicated diverticulosis. 7 women and 5 men. The mean age was 76 years. The clinical presentation in all cases was acute abdominal pain, one with gastrointestinal bleeding. All cases had leukocytosis, neutrophilia and increased acute phase reactants. All patients underwent emergency abdominal CT. In 11 cases, there was consistency between imaging studies and surgical findings. Diverticula were located: jejunum (9) and ileum (3). Urgent exploratory laparotomy was always done and findings were: diverticular perforation with peritonitis (7 cases), diverticular perforation with abscess (4 cases) and in one case an ischemic area with diverticular perforation after embolization. Intestinal resection and anastomosis was performed in all cases. There were no patients, in which the diagnosis of diverticulosis jejunoileal was previously known. Complications were: Clavien I (2), Clavien IIIa (1), Clavien IVb (1), Clavien V (1). Jejunoileal diverticulitis is a rare entity, usually the first sign of onset of diverticular disease not previously known. Abdominal CT is of great diagnostic value. Resection of the affected segment is the treatment of choice.

Case Series: Outbreak of Conversion Disorder among Amish Adolescent Girls.

ERIC Educational Resources Information Center

Cassady, Joslyn D.; Kirschke, David L.; Jones, Timothy F.; Craig, Allen S.; Bermudez, Ovidio B.; Schaffner, William

2005-01-01

Objective: Outbreak investigations are challenging in a cross-cultural context, and outbreaks of psychiatric disease are rare in any community. We investigated a cluster of unexplained debilitating illness among Amish girls. Method: We reviewed the medical records of cases, consulted with health care providers, performed active case finding,…

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outbreak total has reached 36 cases, 14 confirmed and 22 suspected. Thermometer in the sun Study finds Ebola cases in DRC, 27 deaths Stephanie Soucheray | May 23, 2018 With worries about the disease newly pledged for an outbreak that has grown to 51 total cases, 28 confirmed. More news Inside CIDRAP

Hemizygous Fabry disease associated with membranous nephropathy: A rare case report
.

PubMed

Zhou, Wenyan; Ni, Zhaohui; Zhang, Minfang

2018-05-24

Fabry disease may coexist with various glomerular diseases, including IgA nephropathy, focal segmental glomerulosclerosis, etc. In this study, we report a rare case of Fabry disease associated with membranous nephropathy (MN). A 30-year-old man with nephrotic proteinuria, normal renal function, and no other extrarenal manifestations underwent a renal biopsy in February 2017. Light microscopy and immunofluorescence indicated MN (stage 1). Under an electron microscope, there were subepithelial electron-dense deposits and abundant zebra bodies in podocytes. Both the findings of low-activity α-galactosidase A (α-Gal A, GLA) and base deletion in exon 7 of the GLA gene (GLA-E07.1286_*7 del, a newly reported mutation) confirmed that this patient was simultaneously afflicted with Fabry disease. This case report is an important reminder of the role of kidney biopsy, especially electron microscopy, as an indicator of Fabry disease and its rare coexistence with MN.
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Myalgic encephalomyelitis, chronic fatigue syndrome: An infectious disease.

PubMed

Underhill, R A

2015-12-01

The etiology of myalgic encephalomyelitis also known as chronic fatigue syndrome or ME/CFS has not been established. Controversies exist over whether it is an organic disease or a psychological disorder and even the existence of ME/CFS as a disease entity is sometimes denied. Suggested causal hypotheses have included psychosomatic disorders, infectious agents, immune dysfunctions, autoimmunity, metabolic disturbances, toxins and inherited genetic factors. Clinical, immunological and epidemiological evidence supports the hypothesis that: ME/CFS is an infectious disease; the causal pathogen persists in patients; the pathogen can be transmitted by casual contact; host factors determine susceptibility to the illness; and there is a population of healthy carriers, who may be able to shed the pathogen. ME/CFS is endemic globally as sporadic cases and occasional cluster outbreaks (epidemics). Cluster outbreaks imply an infectious agent. An abrupt flu-like onset resembling an infectious illness occurs in outbreak patients and many sporadic patients. Immune responses in sporadic patients resemble immune responses in other infectious diseases. Contagion is shown by finding secondary cases in outbreaks, and suggested by a higher prevalence of ME/CFS in sporadic patients' genetically unrelated close contacts (spouses/partners) than the community. Abortive cases, sub-clinical cases, and carrier state individuals were found in outbreaks. The chronic phase of ME/CFS does not appear to be particularly infective. Some healthy patient-contacts show immune responses similar to patients' immune responses, suggesting exposure to the same antigen (a pathogen). The chronicity of symptoms and of immune system changes and the occurrence of secondary cases suggest persistence of a causal pathogen. Risk factors which predispose to developing ME/CFS are: a close family member with ME/CFS; inherited genetic factors; female gender; age; rest/activity; previous exposure to stress or toxins; various infectious diseases preceding the onset of ME/CFS; and occupational exposure of health care professionals. The hypothesis implies that ME/CFS patients should not donate blood or tissue and usual precautions should be taken when handling patients' blood and tissue. No known pathogen has been shown to cause ME/CFS. Confirmation of the hypothesis requires identification of a causal pathogen. Research should focus on a search for unknown and known pathogens. Finding a causal pathogen could assist with diagnosis; help find a biomarker; enable the development of anti-microbial treatments; suggest preventive measures; explain pathophysiological findings; and reassure patients about the validity of their symptoms.

Castleman's disease presenting as a pleural tumor: a case report with CT findings.

PubMed

Doo, Kyung Won; Kim, Bomi

2018-02-01

Castleman's disease (CD) is an uncommon benign lymphoproliferative disorder which most commonly involves the mediastinum but rarely affects the pleura. We report a case of unicentric CD that presents as a pleural mass in a 45-year-old man, which was subsequently resected followed by an unexpected diagnosis on histologic examination. Although rare, CD should be included in the differential diagnosis of well-enhancing pleural mass.

Prostate carcinoma mimicking a sphenoid wing meningioma

PubMed Central

Bradley, Lucas H.; Burton, Matthew; Gokden, Murat; Serletis, Demitre

2015-01-01

Introduction We report here on a rare case of a large, lateral sphenoid wing tumor with radiographic and intraoperative findings highly suggestive of meningioma, yet pathology was in fact consistent with metastatic prostate adenocarcinoma. Presentation of case An 81 year-old male presented with expressive dysphasia, right-sided weakness and headaches. Imaging revealed a heterogeneously-enhancing lesion based on the left lateral sphenoid wing. The presumed diagnosis was strongly in favor of meningioma, and the patient underwent complete resection of the dural-based lesion. Final pathology confirmed the unexpected finding of a metastatic prostate adenocarcinoma. Although he tolerated surgery well, the patient was subsequently referred for palliative therapy given findings of widespread systemic disease. Discussion Intracranial metastases may involve the dura, at times presenting with rare radiographic features highly suggestive for meningioma, as in our case here. This makes differentiation, at least based on imaging, a challenge. Elderly patients presenting with neurological deficits secondary to a newly-diagnosed, dural-based lesion should thus be considered for metastasis, prompting additional imaging studies (including body CT, MRI or PET) to rule out a primary lesion elsewhere. In some cases, this may affect the overall decision to proceed with surgical resection, or alternatively, to proceed directly to palliative therapy (the latter decision made in the context of widespread metastatic disease). Conclusion We conclude that dural-based metastatic lesions may mimic meningiomas, warranting thorough pre-operative work-up to exclude the possibility of metastasis. In certain cases, identification of widespread disease might preclude surgery and favor palliation, instead. PMID:26318129

Kawasaki disease and immunisation: A systematic review.

PubMed

Phuong, Linny Kimly; Bonetto, Caterina; Buttery, Jim; Pernus, Yolanda Brauchli; Chandler, Rebecca; Felicetti, Patrizia; Goldenthal, Karen L; Kucuku, Merita; Monaco, Giuseppe; Pahud, Barbara; Shulman, Stanford T; Top, Karina A; Trotta, Francesco; Ulloa-Gutierrez, Rolando; Varricchio, Frederick; de Ferranti, Sarah; Newburger, Jane W; Dahdah, Nagib; Singh, Surjit; Bonhoeffer, Jan; Burgner, David

2017-03-27

Kawasaki disease is a complex and potentially serious condition. It has been observed in temporal relation to immunisation. We conducted a systematic literature review using various reference sources to review the available evidence published in the literature. We identified twenty seven publications reporting a temporal association between immunisation and Kawasaki disease. We present a systematic review of data drawn from randomised controlled trials, observational studies, case series and reports, and reviews. Overall there was a lack of standardised case definitions, making data interpretation and comparability challenging. Although a temporal relationship between immunisation and Kawasaki disease is suggested, evidence for an increased risk or a causal association is lacking. Implementation of a standardised Kawasaki disease case definition would increase confidence in the findings and add value to future studies of pre- or post-licensure vaccine safety studies. Copyright © 2016. Published by Elsevier Ltd.

Nystagmus using video-oculography in psychiatric patients.

PubMed

Kiyomizu, Kensuke; Matsuda, Keiji; Torihara, Koji; Nakayama, Meiho; Komaki, Shogo; Tono, Tetsuya; Ishida, Yasushi; Yoshida, Kensei; Kimitsuki, Takashi

2009-08-01

To evaluate whether nystagmus has clinical significance in psychiatric patients who have functional and/or organic brain dysfunction. We performed gaze, positional and positioning nystagmus tests on 227 patients with psychiatric diseases (144 men, 83 women, with an average age +/- SD of 62.5 +/- 14.0 years) in order to evaluate the frequency and characteristics of nystagmus. Patients were classified according to the underlying disease. Normal control subjects were 107 subjects (26 men, 81 women, with an average age +/- SD of 35.6 +/- 10.0 years). Nystagmus was observed in 56 (24.7%) of 227 cases. Nystagmus was seen in 16 (59.3%) of 27 cases of alcoholism, 14 (22.2%) of 63 cases of organic psychiatric disorders, 25 (20.2%) of 124 cases of schizophrenia, 1 (20.0%) of 5 cases of excited mental retardation, 0 (0.0%) of 7 cases of mood disorders, 0 (0.0%) of 1 case of anxiety disorders and 1 (0.9%) of 107 subjects of normal control. There was a significant difference between psychiatric diseases and normal control. These results indicate that nystagmus may also be a very important clinical finding not only in patients with neurological and neuro-otological diseases, but also in patients with psychiatric diseases.

Prevalence of clinical abnormalities in cats found to have nonneoplastic middle ear disease at necropsy: 59 cases (1991-2007).

PubMed

Schlicksup, Michael D; Van Winkle, Thomas J; Holt, David E

2009-10-01

To determine the prevalence of nonneoplastic middle ear disease among cats undergoing necropsy and the prevalence of clinical abnormalities in cats in which nonneoplastic middle ear disease was identified. Retrospective case series. 59 cats that underwent necropsy between January 1991 and August 2007. Medical records were searched to identify cats in which nonneoplastic middle ear disease was identified at necropsy. For cats included in the study, data that were recorded included signalment, initial complaint, whether the cat had any clinical signs of middle or external ear disease, whether the cat had upper respiratory tract disease, necropsy diagnosis, gross appearance of the bullae, and reason for euthanasia. Signs of middle ear disease that were considered included unilateral peripheral vestibular disease without motor deficits, Horner syndrome, and facial nerve paralysis. Of the 3,442 cats that underwent necropsy during the study period, 59 (1.7%) had nonneoplastic middle ear disease. Six of the 59 (10%) cats, including 1 cat that was affected bilaterally, had clinical signs of middle ear disease. Of these, 5 had signs of unilateral peripheral vestibular disease, and 1 had Horner syndrome. Results suggested that most cats with nonneoplastic middle ear disease did not have associated clinical signs. Findings may be of clinical relevance for cats in which middle ear disease is identified as an incidental finding during computed tomography or magnetic resonance imaging for unrelated diseases.

An Unrecognized Rash Progressing to Lyme Carditis: Important Features and Recommendations Regarding Lyme Disease.

PubMed

Lee, Shawn; Singla, Montish

2016-01-01

We present a case report of 46-year-old man with no medical history, who complained of extreme fatigue, near-syncope, and palpitations. He initially presented in complete heart block. A transvenous pacemaker was placed in the emergency department, and he was started empirically on Ceftriaxone for Lyme disease. He was admitted and over the course of the next few days, his rhythm regressed to Mobitz type I first-degree atrioventricular block and then to normal sinus rhythm. This case report highlights some important features regarding Lyme carditis, a rare presentation of early disseminated Lyme disease (seen in a few weeks to months after the initial tick bite). In 25%-30% of patients, the characteristic targetoid rash may not be seen, a likely culprit of the disease not being detected early and progressing to disseminated disease. The most common cardiac complaint of Lyme disease is palpitations, occurring in 6.6% of patients, which may not accurately reflect progression into disseminated Lyme disease because it is a nonspecific finding. Conduction abnormality, occurring in 1.8% of patients, is a more specific finding of Borrelia invading cardiac tissue. Finally, this case report highlights a recommendation that patients with confirmed Lyme disease or those presenting with cardiac abnormalities or symptoms who have an atypical profile for a cardiac event should be screened with a 12-lead electrocardiogram, Lyme serology, and be considered for antibiotic therapy with the possibility of temporary pacing.

Gastrointestinal manifestation of immunoglobulin G4-related disease: clarification through a multicenter survey.

PubMed

Notohara, Kenji; Kamisawa, Terumi; Uchida, Kazushige; Zen, Yoh; Kawano, Mitsuhiro; Kasashima, Satomi; Sato, Yasuharu; Shiokawa, Masahiro; Uehara, Takeshi; Yoshifuji, Hajime; Hayashi, Hiroko; Inoue, Koichi; Iwasaki, Keisuke; Kawano, Hiroo; Matsubayashi, Hiroyuki; Moritani, Yukitoshi; Murakawa, Katsuhiko; Oka, Yoshio; Tateno, Masatoshi; Okazaki, Kazuichi; Chiba, Tsutomu

2018-07-01

Several reports on immunoglobulin (Ig)G4-related disease (IgG4-RD) with gastrointestinal involvement (IgG4-related gastrointestinal disease; IgG4-GID) have been published, although this entity has not been fully established clinicopathologically. Thus, we carried out a multicenter survey. Patients with possible IgG4-GID who underwent resection were collected. Histologic slides were reevaluated, and eight cases with diffuse lymphoplasmacytic infiltration but without numerous neutrophils, granulations or epithelioid granulomas were further analyzed. Overall, the IgG4 counts (87-345/high-power field) and IgG4/IgG-positive ratio were high (44-115%). The demographic findings included advanced age among the patients (55-80 years) and male preponderance (six cases). Six lesions (five gastric, one esophageal), consisting of lymphoplasmacytic infiltration with neural involvement in the muscularis propria and/or bottom-heavy plasmacytosis in the gastric mucosa, were histologically regarded as highly suggestive of IgG4-RD. Storiform fibrosis and obliterative phlebitis were found in two cases, and the former gave rise to a 7-cm-sized inflammatory pseudotumor (IPT) in one case. Ulceration and carcinoma co-existed in three and two lesions, respectively. All the patients had other organ involvement (OOI), and serum IgG4 levels were markedly elevated (four of five patients). The remaining two cases with gastric IPTs featuring reactive nodular fibrous pseudotumor or nodular lymphoid hyperplasia were regarded as possible cases of IgG4-RD because of the histologic findings and lack of OOI. IgG4-GID is found in the setting of IgG4-RD, often with ulceration or cancer. Characteristic histologic findings are observed in the muscularis propria and gastric mucosa. Cases with IPT may be heterogeneous, and there may be mimickers of IgG4-GID.

Serological testing for coeliac disease in Type 1 diabetes mellitus: is immunoglobulin A level measurement necessary?

PubMed

Kurien, M; Leeds, J S; Hopper, A D; Wild, G; Egner, W; Tesfaye, S; Hadjivassiliou, M; Sanders, D S

2013-07-01

Immunoglobulin A (IgA) measurement is advocated when case finding for coeliac disease in patients with Type 1 diabetes mellitus. Currently, there is a paucity of contemporary studies assessing IgA deficiency in Type 1 diabetes. This study evaluates the prevalence of IgA deficiency in individuals with Type 1 diabetes, compared with patients with coeliac disease and control subjects. In addition, we evaluate whether routine IgA measurement is justifiable when case finding for coeliac disease in patients with Type 1 diabetes. All patients were assessed using IgA endomysial antibodies, IgA anti-tissue transglutaminase antibodies and total IgA levels. Altogether, 2434 individuals were tested: 1000 patients with Type 1 diabetes, 234 patients with coeliac disease and 1200 population control subjects. Definitive IgA deficiency was defined as total IgA levels < 0.07 g/l. The prevalence of IgA deficiency was significantly more common in patients with Type 1 diabetes (0.9%, n = 9/1000; P = 0.036) and coeliac disease (1.29%, n = 3/234; P = 0.041) when compared with population control subjects (prevalence of 0.17%, 2/1200). No statistical difference between Type 1 diabetes and coeliac disease for IgA deficiency was identified (P = 0.87). Of patients in the group with Type 1 diabetes, 3.3% (33/1000) had coeliac disease, and of those only one patient had IgA deficiency leading to an antibody-negative presentation. Both IgA-deficient individuals within the population control subjects had normal duodenal biopsies and no relevant symptoms. IgA deficiency is more common in Type 1 diabetes compared with population control subjects. Despite this, very few individuals with Type 1 diabetes and IgA deficiency appear to have villous atrophy on biopsy. These outcomes question the practice of routine IgA measurement when case finding for coeliac disease in patients with Type 1 diabetes. © 2013 The Authors. Diabetic Medicine © 2013 Diabetes UK.

Neuropathology of Autosomal Dominant Alzheimer Disease in the National Alzheimer Coordinating Center Database.

PubMed

Ringman, John M; Monsell, Sarah; Ng, Denise W; Zhou, Yan; Nguyen, Andy; Coppola, Giovanni; Van Berlo, Victoria; Mendez, Mario F; Tung, Spencer; Weintraub, Sandra; Mesulam, Marek-Marsel; Bigio, Eileen H; Gitelman, Darren R; Fisher-Hubbard, Amanda O; Albin, Roger L; Vinters, Harry V

2016-03-01

Alzheimer disease (AD) represents a genetically heterogeneous entity. To elucidate neuropathologic features of autosomal dominant AD ([ADAD] due to PSEN1, APP, or PSEN2 mutations), we compared hallmark AD pathologic findings in 60 cases of ADAD and 120 cases of sporadic AD matched for sex, race, ethnicity, and disease duration. Greater degrees of neuritic plaque and neurofibrillary tangle formation and cerebral amyloid angiopathy (CAA) were found in ADAD (p values < 0.01). Moderate to severe CAA was more prevalent in ADAD (63.3% vs. 39.2%, p = 0.003), and persons with PSEN1 mutations beyond codon 200 had higher average Braak scores and severity and prevalence of CAA than those with mutations before codon 200. Lewy body pathology was less extensive in ADAD but was present in 27.1% of cases. We also describe a novel pathogenic PSEN1 mutation (P267A). The finding of more severe neurofibrillary pathology and CAA in ADAD, particularly in carriers of PSEN1 mutations beyond codon 200, warrants consideration when designing trials to treat or prevent ADAD. The finding of Lewy body pathology in a substantial minority of ADAD cases supports the assertion that development of Lewy bodies may be in part driven by abnormal β-amyloid protein precursor processing. © 2016 American Association of Neuropathologists, Inc. All rights reserved.

Incidence and prevalence of inflammatory bowel diseases in gastroenterology primary care setting.

PubMed

Tursi, Antonio; Elisei, Walter; Picchio, Marcello

2013-12-01

The incidence of inflammatory bowel diseases (IBDs) has markedly increased over the last years, but no epidemiological study has been performed in gastroenterology primary care setting. We describe the epidemiology of IBD in a gastroenterology primary care unit using its records as the primary data source. Case finding used predefined read codes to systematically search computer diagnostic and prescribing records from January 2009 to December 2012. A specialist diagnosis of Ulcerative colitis (UC), Crohn's disease (CD), inflammatory bowel disease unclassified (IBDU) or segmental colitis associated with diverticulosis (SCAD), based on clinical, histological or radiological findings, was a prerequisite for the inclusion in the study. Secondary, infective and apparent acute self-limiting colitis were excluded. We identified 176 patients with IBD in a population of 94,000 with a prevalence 187.2/100,000 (95% CI: 160.6-217.0). Between 2009 and 2012 there were 61 new cases. In particular, there were 23 new cases of UC, 19 new cases of CD, 15 new cases of SCAD, and 4 new cases of IBDU. The incidence of IBD was 16.2/100,000 (95% CI 12.5-20.7) per year. The incidence per year was 6/100,000 (95% CI 3.8 to 8.9) for UC, 5/100,000 (95% CI 3.0-7.7) for CD, 4/100,000 (95% CI 2.3-6.5) for SCAD, and 1/100,000 (95% CI 0.3-2.6) for IBDU. We assessed for the first time which is the prevalence and incidence of IBD in a gastroenterology primary care unit. This confirms that specialist primary care unit is a key factor in providing early diagnosis of chronic diseases. Copyright © 2013 European Federation of Internal Medicine. Published by Elsevier B.V. All rights reserved.

[Pulmonary veno-occlusive disease/pulmonary capillary hemangiomatosis: A case report and literature review].

PubMed

Xiong, Xianliang; Zhu, Tengteng; Li, Jiang

2018-05-28

Pulmonary veno-occlusive disease (PVOD)/pulmonary capillary hemangiomatosis (PCH) is a rare form of pulmonary vascular disease that causes pulmonary arterial hypertension. The diagnosis of PVOD/PCH can be established by the combination of clinical features, physical examination, radiological findings, lung function, bronchoscopy and other resources. There is no established medical therapy for PVOD/PCH, and the only curative therapy for PVOD/PCH is lung transplantation. A girl with PVOD/PCH was diagnosed in the Second Xiangya Hospital. Combining the characteristics for this case with the relevant literature, we summarized the epidemiology, etiology, diagnosis and treatment for the disease to raise doctors' awareness for this rare disease.

[Virtual bronchoscopy: the correlation between endoscopic simulation and bronchoscopic findings].

PubMed

Salvolini, L; Gasparini, S; Baldelli, S; Bichi Secchi, E; Amici, F

1997-11-01

We carried out a preliminary clinical validation of 3D spiral CT virtual endoscopic reconstructions of the tracheobronchial tree, by comparing virtual bronchoscopic images with actual endoscopic findings. Twenty-two patients with tracheobronchial disease suspected at preliminary clinical, cytopathological and plain chest film findings were submitted to spiral CT of the chest and bronchoscopy. CT was repeated after endobronchial therapy in 2 cases. Virtual endoscopic shaded-surface-display views of the tracheobronchial tree were reconstructed from reformatted CT data with an Advantage Navigator software. Virtual bronchoscopic images were preliminarily evaluated with a semi-quantitative quality score (excellent/good/fair/poor). The depiction of consecutive airway branches was then considered. Virtual bronchoscopies were finally submitted to double-blind comparison with actual endoscopies. Virtual image quality was considered excellent in 8 cases, good in 14 and fair in 2. Virtual exploration was stopped at the lobar bronchi in one case only; the origin of segmental bronchi was depicted in 23 cases and that of some subsegmental branches in 2 cases. Agreement between actual and virtual bronchoscopic findings was good in all cases but 3 where it was nevertheless considered satisfactory. The yield of clinically useful information differed in 8/24 cases: virtual reconstructions provided more information than bronchoscopy in 5 cases and vice versa in 3. Virtual reconstructions are limited in that the procedure is long and difficult and needing a strictly standardized threshold value not to alter virtual findings. Moreover, the reconstructed surface lacks transparency, there is the partial volume effect and the branches < or = 4 pixels phi and/or meandering ones are difficult to explore. Our preliminary data are encouraging. Segmental bronchi were depicted in nearly all cases, except for the branches involved by disease. Obstructing lesions could be bypassed in some cases, making an indication for endoscopic laser therapy. Future didactic perspectives and applications to minimally invasive or virtual reality-assisted therapy seem promising, even though actual clinical applications require further studies.

Cocaine-induced pulmonary changes: HRCT findings *

PubMed Central

de Almeida, Renata Rocha; Zanetti, Gláucia; Souza, Arthur Soares; de Souza, Luciana Soares; Silva, Jorge Luiz Pereira e; Escuissato, Dante Luiz; Irion, Klaus Loureiro; Mançano, Alexandre Dias; Nobre, Luiz Felipe; Hochhegger, Bruno; Marchiori, Edson

2015-01-01

Abstract Objective: To evaluate HRCT scans of the chest in 22 patients with cocaine-induced pulmonary disease. Methods: We included patients between 19 and 52 years of age. The HRCT scans were evaluated by two radiologists independently, discordant results being resolved by consensus. The inclusion criterion was an HRCT scan showing abnormalities that were temporally related to cocaine use, with no other apparent causal factors. Results: In 8 patients (36.4%), the clinical and tomographic findings were consistent with "crack lung", those cases being studied separately. The major HRCT findings in that subgroup of patients included ground-glass opacities, in 100% of the cases; consolidations, in 50%; and the halo sign, in 25%. In 12.5% of the cases, smooth septal thickening, paraseptal emphysema, centrilobular nodules, and the tree-in-bud pattern were identified. Among the remaining 14 patients (63.6%), barotrauma was identified in 3 cases, presenting as pneumomediastinum, pneumothorax, and hemopneumothorax, respectively. Talcosis, characterized as perihilar conglomerate masses, architectural distortion, and emphysema, was diagnosed in 3 patients. Other patterns were found less frequently: organizing pneumonia and bullous emphysema, in 2 patients each; and pulmonary infarction, septic embolism, eosinophilic pneumonia, and cardiogenic pulmonary edema, in 1 patient each. Conclusions: Pulmonary changes induced by cocaine use are varied and nonspecific. The diagnostic suspicion of cocaine-induced pulmonary disease depends, in most of the cases, on a careful drawing of correlations between clinical and radiological findings. PMID:26398752

Neuropathological findings in cattle with clinically suspect but histologically unconfirmed bovine spongiform encephalopathy (BSE).

PubMed

McGill, I S; Wells, G A

1993-04-01

Neuropathological observations were made in 200 clinically suspected cases of bovine spongiform encephalopathy (BSE) in which pathognomonic vacuolar changes were absent. Routine histological and immunocytochemical techniques were applied to formalin-fixed, paraffin-embedded sections of the central nervous system. Significant neuropathological findings were detected in 85 (42.5 per cent) cases. The most frequent lesion, detected in 46 (23 per cent) cases, was a focal white matter vacuolation principally affecting the substantia nigra, but its clinical significance was unclear. Listeriosis was diagnosed in 17 (8.5 per cent) cases. In three of seven cases of non-suppurative encephalitis, lesions suggested sporadic bovine encephalomyelitis, a disease not previously reported in the UK. Suppurative thromboembolic or granulomatous lesions accounted for other inflammatory changes. Neuroectodermal tumours were present in five cases (2.5 per cent); three were identical in form and considered to be atypical ependymoma. Cerebrocortical necrosis, oedema or both were detected in four cases. The remaining cases (4.5 per cent), comprised those in which the changes were minor and of doubtful significance. Incidental pathological findings included occasional degenerating or vacuolated neurones, which occurred in the red nucleus in 105 brains, in the habenular nucleus in 71 brains, and singly at other sites in 17 brains. In sections of 37 brains immunostained with antiserum to prion protein (PrP), no evidence of PrP accumulation was found, providing some evidence that the series did not contain bovine prion disease cases which, based on the histological diagnosis, had given a false negative result. It is suggested that, of 115 cases (57.5 per cent) which lacked significant histological lesions, some were suffering from metabolic disorders. The study identified diseases and lesions which feature in the differential diagnosis of BSE. Their more accurate diagnosis may become particularly important if, as predicted, the BSE epidemic declines.

Transient myeloproliferative disease of the newborn: case report with placental, cytogenetic, and flow cytometric findings.

PubMed

de Tar, M W; Dittman, W; Gilbert, J

2000-03-01

Transient myeloproliferative disease (TMD) of the newborn is a rare hematologic abnormality associated with trisomy 21. It is frequently difficult to distinguish the disorder from true congenital leukemia (TCL). Unlike leukemia, which has a clinically aggressive course, TMD generally resolves within weeks to months. We present a case of TMD of the newborn diagnosed on the basis of peripheral blood studies and describe the pertinent pathological findings within the placenta. Flow cytometric analysis of the blasts in the peripheral blood showed phenotypic heterogeneity with features consistent with megakaryocytic differentiation. Cytogenetic studies showed trisomy 21 within the blastic cells. The placenta showed villous dysmaturity with associated chorangiosis and prominent intravascular aggregates of primitive-appearing cells with focal, early vascular wall invasion. The neonate recovered fully and shows no evidence of disease at 2 years of age.

Update on the therapy of Behçet disease

PubMed Central

Saleh, Zeinab

2014-01-01

Behçet disease is a chronic inflammatory systemic disorder, characterized by a relapsing and remitting course. It manifests with oral and genital ulcerations, skin lesions, uveitis, and vascular, central nervous system and gastrointestinal involvement. The main histopathological finding is a widespread vasculitis of the arteries and veins of any size. The cause of this disease is presumed to be multifactorial involving infectious triggers, genetic predisposition, and dysregulation of the immune system. As the clinical expression of Behçet disease is heterogeneous, pharmacological therapy is variable and depends largely on the severity of the disease and organ involvement. Treatment of Behçet disease continues to be based largely on anecdotal case reports, case series, and a few randomized clinical trials. PMID:24790727

Evaluating Hospital-Based Surveillance for Outbreak Detection in Bangladesh: Analysis of Healthcare Utilization Data

PubMed Central

Nikolay, Birgit; Salje, Henrik; Sturm-Ramirez, Katharine; Azziz-Baumgartner, Eduardo; Homaira, Nusrat; Iuliano, A. Danielle; Paul, Repon C.; Hossain, M. Jahangir; Cauchemez, Simon; Gurley, Emily S.

2017-01-01

Background The International Health Regulations outline core requirements to ensure the detection of public health threats of international concern. Assessing the capacity of surveillance systems to detect these threats is crucial for evaluating a country’s ability to meet these requirements. Methods and Findings We propose a framework to evaluate the sensitivity and representativeness of hospital-based surveillance and apply it to severe neurological infectious diseases and fatal respiratory infectious diseases in Bangladesh. We identified cases in selected communities within surveillance hospital catchment areas using key informant and house-to-house surveys and ascertained where cases had sought care. We estimated the probability of surveillance detecting different sized outbreaks by distance from the surveillance hospital and compared characteristics of cases identified in the community and cases attending surveillance hospitals. We estimated that surveillance detected 26% (95% CI 18%–33%) of severe neurological disease cases and 18% (95% CI 16%–21%) of fatal respiratory disease cases residing at 10 km distance from a surveillance hospital. Detection probabilities decreased markedly with distance. The probability of detecting small outbreaks (three cases) dropped below 50% at distances greater than 26 km for severe neurological disease and at distances greater than 7 km for fatal respiratory disease. Characteristics of cases attending surveillance hospitals were largely representative of all cases; however, neurological disease cases aged <5 y or from the lowest socioeconomic group and fatal respiratory disease cases aged ≥60 y were underrepresented. Our estimates of outbreak detection rely on suspected cases that attend a surveillance hospital receiving laboratory confirmation of disease and being reported to the surveillance system. The extent to which this occurs will depend on disease characteristics (e.g., severity and symptom specificity) and surveillance resources. Conclusion We present a new approach to evaluating the sensitivity and representativeness of hospital-based surveillance, making it possible to predict its ability to detect emerging threats. PMID:28095468

Segmental hyperhidrosis as a manifestation of spinal and paraspinal disease.

PubMed

Schulz, V; Ward, D; Moulin, D E

1998-11-01

Segmental hyperhidrosis is an uncommon finding which is usually associated with irritation or infiltration of pre-ganglionic sympathetic fibres or the sympathetic chain. We report two cases of segmental hyperhidrosis with striking clinical features. In one case, a mesothelioma produced ipsilateral simultaneous underactivity and overactivity of sympathetic outflow and in the other case a thoracic central disc herniation was probably responsible for a band of sweating which clearly extended beyond the segmental level of injury. Segmental hyperhidrosis should trigger a search for structural disease in the spinal and paraspinal region.

Proposal of diagnostic process model for computer based diagnosis.

PubMed

Matsumura, Yasushi; Takeda, Toshihiro; Manabe, Shiro; Saito, Hirokazu; Teramoto, Kei; Kuwata, Shigeki; Mihara, Naoki

2012-01-01

We aim at making a diagnosis support system that can be put to practical use. We proposed a diagnostic process model based on simple knowledge which can be gleaned from textbooks. We defined clinical finding (CF) as a general concept for patient's symptom or findings etc., whose value is expressed by Boolean. We call the combination of several CFs a "CF pattern", and a set of CF patterns with concomitant diseases "case base". We consider diagnosis as a process of searching an instance from the case base whose CF pattern is concomitant with that of a patient. The diseases which have the same CF pattern are candidates for diagnosis. Then we select a CF which is present in part of the candidates and check whether it is present or absent in the patient in order to narrow down the candidates. Because the case base does not exist in reality, the probability of CF pattern is calculated by the product of CF occurrence rate assuming that occurrence of CF is independent. Therefore the knowledge required for diagnosis is frequency of disease under sex and age group and CF-disease relation (CF and its occurrence rate in the disease). By processing these two types of knowledge, diagnosis can be made.

[Kikuchi-Fujimoto's disease and connective tissue disease: a report of three cases].

PubMed

Frikha, F; Marzouk, S; Frigui, M; Jallouli, M; Kechaou, M; Kaddour, N; Boudawara, T; Jlidi, R; Bahloul, Z

2008-02-01

Kikuchi-Fujimoto's disease or histiocytic necrotizing lymphadenitis, clinicopathological entity of unknown aetiology, is a rare and benign cause of cervical lymphadenopathies. It can be associated with various auto-immune diseases especially systemic lupus erythematous (SLE) or with some infectious agents. This report describes a survey of three patients who developed Kikuchi's lymphadenitis occurring concomitantly with connective tissue disease: LES in two cases and non determined connective tissue disease in the other case. Comparing the clinical, histopathological and evolutionary findings to the literature allows to identify the main features of this self-limiting disorder: occurrence in young women; clinical presentation with cervical lymphadenopathy in a context of fever and asthenia. The definite diagnosis is usually made through histopathological examination of a lymph node biopsy. Disease course is generally favourable with spontaneous resolution within few weeks. It may be improved with corticosteroid treatment in patients with systemic involvement. Prognosis is related to the associated disease. Kikuchi-Fujimoto's disease is a rare and benign cause of cervical lymphadenopathy that could resemble lymphoma, tuberculosis and may be associated with a characterized systemic disease.

[Hellp syndrome. Presentation of a case and review of the literature].

PubMed

Vargas Hernández, V M; Romo Vázquez, L M; Oros Ramírez, J A

1991-07-01

A severe case of preeclampsia with Hellp Syndrome is reported. Clinical findings, laboratory abnormalities and pathogenesis, were discussed. We concluded that severe preeclampsia and Hellp Syndrome are not different diseases, but the natural course of preeclampsia per se.

Temporary brittle bone disease: relationship between clinical findings and judicial outcome

PubMed Central

Paterson, Colin R.; Monk, Elizabeth A.

2011-01-01

There is a wide differential diagnosis for the child with unexplained fractures including non-accidental injury, osteogenesis imperfecta and vitamin D deficiency rickets. Over the last 20 years we and others have described a self-limiting syndrome characterised by fractures in the first year of life. This has been given the provisional name temporary brittle bone disease. This work had proved controversial mostly because the fractures, including rib fractures and metaphyseal fractures, were those previously regarded as typical or even diagnostic of non-accidental injury. Some have asserted that the condition does not exist. Over the years 1985 to 2000 we investigated 87 such cases with fractures with a view to determining the future care of the children. In 85 of these the judiciary was involved. We examined the clinical and radiological findings in the 33 cases in which there was a judicial finding of abuse, the 24 cases in which the parents were exonerated and the 28 cases in which no formal judicial finding was made. The three groups of patients were similar in terms of demographics, age at fracturing and details of the fractures. The clinical similarities between the three groups of patients contrast with the very different results of the judicial process. PMID:22053268

Temporary brittle bone disease: relationship between clinical findings and judicial outcome.

PubMed

Paterson, Colin R; Monk, Elizabeth A

2011-06-30

There is a wide differential diagnosis for the child with unexplained fractures including non-accidental injury, osteogenesis imperfecta and vitamin D deficiency rickets. Over the last 20 years we and others have described a self-limiting syndrome characterised by fractures in the first year of life. This has been given the provisional name temporary brittle bone disease. This work had proved controversial mostly because the fractures, including rib fractures and metaphyseal fractures, were those previously regarded as typical or even diagnostic of non-accidental injury. Some have asserted that the condition does not exist. Over the years 1985 to 2000 we investigated 87 such cases with fractures with a view to determining the future care of the children. In 85 of these the judiciary was involved. We examined the clinical and radiological findings in the 33 cases in which there was a judicial finding of abuse, the 24 cases in which the parents were exonerated and the 28 cases in which no formal judicial finding was made. The three groups of patients were similar in terms of demographics, age at fracturing and details of the fractures. The clinical similarities between the three groups of patients contrast with the very different results of the judicial process.

Bilateral Neuroretinitis and a Unilateral Superior Hemivein Occlusion with Frosted Branch Angiitis Pattern Presenting Simultaneously in Behçet's Disease.

PubMed

Schwartz, Roy; Borok, Sara; Goldstein, Michaella; Kesler, Anat; Regev, Keren; Elkayam, Ori; Habot-Wilner, Zohar

2016-01-01

To report a unique case of Behçet's disease that presented with atypical ocular manifestations. Case report. A 23-year-old homosexual male presented with bilateral anterior uveitis, vitritis, neuroretinitis and a unilateral superior hemivein occlusion with frosted branch angiitis pattern. These were accompanied by systemic findings of recurrent oral aphthous ulcers, erythema nodosum, and neurological and gastrointestinal involvement. A positive HLA-B51 examination supported the diagnosis of Behçet's disease. Neuroretinitis and frosted branch angiitis may be the clinical manifestations of Behçet's disease and may present simultaneously.

Bilateral Neuroretinitis and a Unilateral Superior Hemivein Occlusion with Frosted Branch Angiitis Pattern Presenting Simultaneously in Behçet's Disease

PubMed Central

Schwartz, Roy; Borok, Sara; Goldstein, Michaella; Kesler, Anat; Regev, Keren; Elkayam, Ori; Habot-Wilner, Zohar

2016-01-01

Purpose To report a unique case of Behçet's disease that presented with atypical ocular manifestations. Methods Case report. Results A 23-year-old homosexual male presented with bilateral anterior uveitis, vitritis, neuroretinitis and a unilateral superior hemivein occlusion with frosted branch angiitis pattern. These were accompanied by systemic findings of recurrent oral aphthous ulcers, erythema nodosum, and neurological and gastrointestinal involvement. A positive HLA-B51 examination supported the diagnosis of Behçet's disease. Conclusion Neuroretinitis and frosted branch angiitis may be the clinical manifestations of Behçet's disease and may present simultaneously. PMID:27065852

Retrospective comparison of abdominal ultrasonography and radiography in the investigation of feline abdominal disease

PubMed Central

Won, Wylen Wade; Sharma, Ajay; Wu, Wenbo

2015-01-01

Abdominal radiography and ultrasonography are commonly used as part of the initial diagnostic plan for cats with nonspecific signs of abdominal disease. This retrospective study compared the clinical usefulness of abdominal radiography and ultrasonography in 105 feline patients with signs of abdominal disease. The final diagnosis was determined more commonly with ultrasonography (59%) compared to radiography (25.7%). Ultrasonography was also able to provide additional clinically relevant information in 76% of cases, and changed or refined the diagnosis in 47% of cases. Based on these findings, ultrasonography may be sufficient as an initial diagnostic test for the investigation of feline abdominal disease. PMID:26483582

Adult human metapneumonovirus (hMPV) pneumonia mimicking Legionnaire's disease.

PubMed

Cunha, Burke A; Irshad, Nadia; Connolly, James J

2016-01-01

In adults hospitalized with viral pneumonias the main differential diagnostic consideration is influenza pneumonia. The respiratory viruses causing viral influenza like illnesses (ILIs), e.g., RSV may closely resemble influenza. Rarely, extrapulmonary findings of some ILIs may resemble Legionnaire's disease (LD), e.g., adenovirus, human parainfluenza virus (HPIV-3). We present a most unusual case of human metapneumonovirus pneumonia (hMPV) with some characteristic extrapulmonary findings characteristic of LD, e.g., relative bradycardia, as well as mildly elevated serum transaminases and hyphosphatemia. We believe this is the first reported case of hMPV pneumonia in a hospitalized adult that had some features of LD. Copyright © 2016 Elsevier Inc. All rights reserved.

Tyzzer's disease in foals: retrospective studies from 1969 to 2010.

PubMed

Swerczek, Thomas W

2013-09-01

Reports of 148 cases of Tyzzer's disease in foals in central Kentucky were analyzed to identify features of the disease and factors associated with it. The records indicate that Tyzzer's disease is a rapidly progressive, highly fatal hepatitis caused by Clostridium piliforme. Common clinical findings are lethargy, fever, anorexia, and icterus. Seizures, coma, and death may rapidly ensue. Laboratory findings are leukopenia, metabolic acidosis, hypoglycemia, and increased activity of hepatic enzymes. Diagnosis is primarily based on clinical signs and postmortem findings but a polymerase chain reaction (PCR) is now available to detect C. piliforme DNA in organs and feces. Disease occurred most frequently in foals between 9 and 30 days of age that were born in April to May and was associated with heavy rainfall in the spring and high protein and nitrogenous diets fed to nursing mares. The findings are consistent with the ingestion of C. piliforme in the feces of adult horses and overgrowth in the intestine of foals with a high level of nutrients in their intestine.

Dermoscopic findings in bowenoid papulosis: report of two cases.

PubMed

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

2014-10-01

Bowenoid papulosis (BP) corresponds to an in situ squamous cell carcinoma (SCC) located in the anogenital region. It is related to HPV, and presents with gray-brown elevated papules or plaques. A biopsy is needed to confirm the diagnosis; however, dermoscopy may be useful to differentiate this disease from other conditions, such as genital warts, seborrheic keratosis and lichen planus. In this paper we describe the dermoscopic findings in two patients with this disease.

Role of immunoflourescence in the diagnosis of glomerulonephritis.

PubMed

Nasir, Humaira; Chaudhry, Sarah; Raza, Wajiha; Moatasim, Ambreen; Mamoon, Nadira; Akhtar, Noreen

2012-03-01

To correlate the findings of immunoflorescence (IF) with morphology in renal biopsies of patients with glomerulonephritis (GN) of both primary and secondary nature. The cross-sectional analytical study was conducted at the Shifa International Hospital's Department of Pathology form March 2007 to August 2008, during which a total of 207 renal biopsies were done. Of them, the study included 92 cases which were diagnosed as primary or secondary glomerulonephritis under light microscope. Those cases were selected in which both light microscopy (LM) and immunoflorescence were done. Of the 92 patients, 79 (85.8%) were adults (> or = 19 years) and 13 (14%) were children (< 19 years). The mean age of adults was 36.44 +/- 11.55 (range 19-69 years) and that of the children was 10.54 +/- 3.85 years (range 4-18 years). immunoflorescence changed the morphologic diagnosis in 20 (21.73%) cases. The pattern of disease was: membranous glomerulonephritis in 24%, focal segmental glomerulosclerosis (FSGS) in 18.4%, mesangiocapillary glomerulonephritis in 2%, and minimal change disease (MCD) in 16% of the cases. Light microscopy alone can misdiagnose renal disease. This is especially important in cases of early stage membranous, IgA nephropathy (IgAN), Lupus nephritis and IgM nephropathy (IgMN), as these entities can only be diagnosed by correlating the microscopic, immunoflorescence findings and clinical details.

Case Report: Lung Disease in World Trade Center Responders Exposed to Dust and Smoke: Carbon Nanotubes Found in the Lungs of World Trade Center Patients and Dust Samples

PubMed Central

Wu, Maoxin; Gordon, Ronald E.; Herbert, Robin; Padilla, Maria; Moline, Jacqueline; Mendelson, David; Litle, Virginia; Travis, William D.; Gil, Joan

2010-01-01

Context After the collapse of the World Trade Center (WTC) on 11 September 2001, a dense cloud of dust containing high levels of airborne pollutants covered Manhattan and parts of Brooklyn, New York. Between 60,000 and 70,000 responders were exposed. Many reported adverse health effects. Case presentation In this report we describe clinical, pathologic, and mineralogic findings in seven previously healthy responders who were exposed to WTC dust on either 11 September or 12 September 2001, who developed severe respiratory impairment or unexplained radiologic findings and underwent video-assisted thoracoscopic surgical lung biopsy procedures at Mount Sinai Medical Center. WTC dust samples were also examined. We found that three of the seven responders had severe or moderate restrictive disease clinically. Histopathology showed interstitial lung disease consistent with small airways disease, bronchiolocentric parenchymal disease, and nonnecrotizing granulomatous condition. Tissue mineralogic analyses showed variable amounts of sheets of aluminum and magnesium silicates, chrysotile asbestos, calcium phosphate, and calcium sulfate. Small shards of glass containing mostly silica and magnesium were also found. Carbon nanotubes (CNT) of various sizes and lengths were noted. CNT were also identified in four of seven WTC dust samples. Discussion These findings confirm the previously reported association between WTC dust exposure and bronchiolar and interstitial lung disease. Long-term monitoring of responders will be needed to elucidate the full extent of this problem. The finding of CNT in both WTC dust and lung tissues is unexpected and requires further study. PMID:20368128

Late onset GM2 gangliosidosis presenting with motor neuron disease: an autopsy case.

PubMed

Yokoyama, Teruo; Nakamura, Seigo; Horiuchi, Emiko; Ishiyama, Miyako; Kawashima, Rei; Nakamura, Kazuo; Hasegawa, Kazuko; Yagishita, Saburo

2014-06-01

Adult-onset GM2 gangliosidosis is very rare and only three autopsy cases have been reported up to now. We report herein an autopsy case of adult-onset GM2 gangliosidosis. The patient developed slowly progressive motor neuron disease-like symptoms after longstanding mood disorder and cognitive dysfunction. He developed gait disturbance and weakness of lower limbs at age 52 years. Because of progressive muscle weakness and atrophy, he became bed-ridden at age 65. At age of 68, he died. His neurological findings presented slight cognitive disturbance, slight manic state, severe muscle weakness, atrophy of four limbs and no extrapyramidal signs and symptoms, and cerebellar ataxia. Neuropathologically, mild neuronal loss and abundant lipid deposits were noted in the neuronal cytoplasm throughout the nervous system, including peripheral autonomic neurons. The most outstanding findings were marked neuronal loss and distended neurons in the anterior horn of the spinal cord, which supports his clinical symptomatology of lower motor neuron disease in this case. The presence of lipofuscin, zebra bodies and membranous cytoplasmic bodies (MCB) and the increase of GM2 ganglioside by biochemistry led to diagnosis of GM2 gangliosidosis. © 2013 Japanese Society of Neuropathology.

Johne's disease in a free-ranging white-tailed deer from Virginia and subsequent surveillance for Mycobacterium avium subspecies paratuberculosis.

PubMed

Sleeman, Jonathan M; Manning, Elizabeth J B; Rohm, John H; Sims, Jerry P; Sanchez, Susan; Gerhold, Richard W; Keel, M Kevin

2009-01-01

Johne's disease (paratuberculosis) was diagnosed in a 2-yr-old, male, free-ranging white-tailed deer (Odocoileus virginianus) from Fauquier County, Virginia, USA, based on histopathology and culture for Mycobacterium avium subspecies paratuberculosis. Clinical and pathologic findings included emaciation; loss of body fat; chronic diarrhea; severe, chronic, diffuse granulomatous colitis with intrahistiocytic acid-fast bacilli; moderate, chronic granulomatous lymphadenitis with intrahistiocytic acid-fast bacilli; as well as moderate chronic, multifocal, lymphoplasmacytic hepatitis. These findings are consistent with previous reports of Johne's disease in cervids. Subsequent targeted surveillance of 10 emaciated deer with diarrhea, as well as sampling of 72 asymptomatic deer for M. avium subsp. paratuberculosis using culture of multiple tissue types, as well as serology using an enzyme-linked immunosorbent assay (ELISA) optimized for cervid antibody detection, did not reveal any additional cases of infection in this geographic region. To date, this appears to be an isolated case of Johne's disease in a free-ranging white-tailed deer, and infection with the causative agent for Johne's disease appears to be an infrequent occurrence in deer from this region. The origin of infection was most likely domestic ruminants. This is the first report of clinical Johne's disease in a free-ranging white-tailed deer outside of the Florida Keys, USA. Stressors, such as high deer population density and low selenium levels, may have contributed to the development of clinical disease in this case and warrant further investigation.

A case study examination of structure and function in a state health department chronic disease unit.

PubMed

Alongi, Jeanne

2015-04-01

I explored the structural and operational practices of the chronic disease prevention and control unit of a state health department and proposed a conceptual model of structure, function, and effectiveness for future study. My exploratory case study examined 7 elements of organizational structure and practice. My interviews with staff and external stakeholders of a single chronic disease unit yielded quantitative and qualitative data that I coded by perspective, process, relationship, and activity. I analyzed these for patterns and emerging themes. Chi-square analysis revealed significant correlations among collaboration with goal ambiguity, political support, and responsiveness, and evidence-based decisions with goal ambiguity and responsiveness. Although my study design did not permit conclusions about causality, my findings suggested that some elements of the model might facilitate effectiveness for chronic disease units and should be studied further. My findings might have important implications for identifying levers around which capacity can be built that may strengthen effectiveness.

A Case Study Examination of Structure and Function in a State Health Department Chronic Disease Unit

PubMed Central

2015-01-01

Objectives. I explored the structural and operational practices of the chronic disease prevention and control unit of a state health department and proposed a conceptual model of structure, function, and effectiveness for future study. Methods. My exploratory case study examined 7 elements of organizational structure and practice. My interviews with staff and external stakeholders of a single chronic disease unit yielded quantitative and qualitative data that I coded by perspective, process, relationship, and activity. I analyzed these for patterns and emerging themes. Results. Chi-square analysis revealed significant correlations among collaboration with goal ambiguity, political support, and responsiveness, and evidence-based decisions with goal ambiguity and responsiveness. Conclusions. Although my study design did not permit conclusions about causality, my findings suggested that some elements of the model might facilitate effectiveness for chronic disease units and should be studied further. My findings might have important implications for identifying levers around which capacity can be built that may strengthen effectiveness. PMID:25689211

A Rare Case Report of Neurodegenerative Disease: Duchenne Muscular Dystrophy in Two Male Siblings

PubMed Central

Suneja, B; Suneja, ES; Chandna, P

2015-01-01

ABSTRACT Duchenne muscular dystrophy (DMD) is an recessive X-linked mediated, musculoskeletal disorder that affects only males. It is the most common and severe form of muscular dystrophy where there is failure to manufacture dystrophin. Clinically, it is characterized by progressive muscle wasting eventually leading to premature death. This case report describes the genetic, oral and systemic findings in two cases of DMD in male siblings. How to cite this article: Suneja B, Suneja ES, Adlakha VK, Chandna P. A Rare Case Report of Neurodegenerative Disease: Duchenne Muscular Dystrophy in Two Male Siblings. Int J Clin Pediatr Dent 2015;8(2):163-165. PMID:26379389

Hilar biliary neurofibroma without neurofibromatosis: case report with contrast-enhanced ultrasound findings.

PubMed

Guo, Huan-Ling; Chen, Li-da; Wang, Zhu; Huang, Yang; Liu, Jin-Ya; Shan, Quan-Yuan; Xie, Xiao-Yan; Lu, Ming-de; Wang, Wei

2016-10-01

Solitary neurofibroma located in the hilum of the liver is extremely rare, particularly without neurofibromatosis. We herein report a case of hilar biliary neurofibroma without signs of von Recklinghausen's disease. A 36-year-old man was admitted to our department with progressive jaundice. The case was diagnosed as hilar cholangiocarcinoma based on preoperative imaging. The patient consequently received a Roux-en-Y hepaticojejunostomy and was confirmed with neurofibroma pathologically. This is the first reported imaging finding of hilar biliary neurofibroma using contrast-enhanced ultrasound, emphasizing the differential diagnosis of biliary tumors.

Rheumatoid arthritis (RA)-specific autoantibodies in patients with interstitial lung disease and absence of clinically apparent articular RA.

PubMed

Gizinski, Alison M; Mascolo, Margherita; Loucks, Jennifer L; Kervitsky, Alma; Meehan, Richard T; Brown, Kevin K; Holers, V Michael; Deane, Kevin D

2009-05-01

The purpose of this study was to identify rheumatoid arthritis (RA)-related autoantibodies in subjects with interstitial lung disease (ILD) and no articular findings of RA, supporting the hypothesis that RA-related autoimmunity may be generated in non-articular sites, such as the lung. This was a retrospective chart review utilizing clinic databases of patients with ILD to identify cases with lung disease, RA-related autoantibody positivity, and no clinical evidence of articular RA. Four patients with ILD, RF, and anti-CCP positivity and no articular findings of RA were identified. All four patients were male with a mean age at time of diagnosis of ILD of 70 years old. All had a history of smoking. Three patients died within 2 years of diagnosis of ILD and never developed articular symptoms consistent with RA; the final case met full criteria for articular RA several months after stopping immunosuppressive treatment for ILD. RF and anti-CCP can be present in smokers with ILD without clinical evidence of articular RA and in one case symptomatic ILD and autoantibody positivity preceded the development of articular RA. These findings suggest that RA-specific autoimmunity may be generated due to immunologic interactions in the lung and may be related to environmental factors such as smoking.

MR Imaging Features of the Cerebellum in Adult-Onset Neuronal Intranuclear Inclusion Disease: 8 Cases.

PubMed

Sugiyama, A; Sato, N; Kimura, Y; Maekawa, T; Enokizono, M; Saito, Y; Takahashi, Y; Matsuda, H; Kuwabara, S

2017-11-01

Neuronal intranuclear inclusion disease is a neurodegenerative disorder pathologically characterized by eosinophilic hyaline intranuclear inclusions. A high-intensity signal along the corticomedullary junction on DWI has been described as a specific MR imaging finding of the cerebrum in neuronal intranuclear inclusion disease. However, MR imaging findings of the cerebellum in neuronal intranuclear inclusion disease have not been fully evaluated. Here, we review MR imaging findings of the cerebellum in a series of 8 patients with pathologically confirmed neuronal intranuclear inclusion disease. The MR imaging results showed cerebellar atrophy (8/8 patients) and high-intensity signal on FLAIR images in the medial part of the cerebellar hemisphere right beside the vermis (the "paravermal area") (6/8) and in the middle cerebellar peduncle (4/8). The paravermal abnormal signals had a characteristic distribution, and they could be an indicator of the diagnosis of neuronal intranuclear inclusion disease even when using the results of past MR imaging examinations in which DWI findings were not examined. © 2017 by American Journal of Neuroradiology.

A Study of Manifestations of Extrapulmonary Tuberculosis in the ENT Region.

PubMed

Akkara, Stani Ajay; Singhania, Ankit; Akkara, Ajay George; Shah, Arti; Adalja, Mayur; Chauhan, Nirali

2014-01-01

Though tuberculosis (TB) primarily affects lungs, extra pulmonary tuberculosis (EPTB) is also common, especially in high disease load areas and mainly manifests in ENT region. To study the different manifestations of tuberculosis in ENT region in terms of presentation, disease process, treatment and outcome. Records of patients diagnosed and treated for TB in the ENT region at our institute's DOTS centre for a two and half year period were analysed for presenting complaints, examination findings, diagnostic features, treatment modes and outcome. Out of 3750 cases diagnosed as TB, 230 had EPTB. 211 cases had ENT manifestations. Majority of the cases were male and in the fourth decade of life. Commonest manifestation was cervical lymphadenopathy with 201 cases. Fine needle aspiration cytology was mostly diagnostic and category I anti TB treatment (AKT) achieved cure. The six cases of TB otitis media presented with ear discharge, sometimes bloody and had varied tympanic membrane findings and facial palsy in two cases with different types and degrees of hearing loss. Diagnosis was confirmed by histology of tissue removed during surgery. Patients completed category I AKT. Hearing and facial palsy did not improve. There were three cases of TB laryngitis and one of nasal TB both of which were confirmed by tissue diagnosis and responded well to AKT. Most of the results in the present study conform to findings of other studies. High degree of suspicion is necessary to reach diagnosis. Category I AKT is effective. Some cases may require surgery.

Comparative assessment of the prevalence of periodontal disease in subjects with and without systemic autoimmune diseases: A case-control study.

PubMed

Ramesh Kumar, S G; Aswath Narayanan, M B; Jayanthi, D

2016-01-01

Immune mechanism shares a common pathway both for systemic autoimmune diseases and periodontal diseases. Scientific exploration of literature revealed limited studies on the association between systemic autoimmune diseases and periodontal diseases in India. The aim of the study is to find whether the presence of systemic autoimmune diseases in an individual is a risk factor for the development of periodontal disease. This was a hospital-based case-control study. A sample of 253 patients with systemic autoimmune diseases, attending the Rheumatology Department of Government General Hospital, Chennai-3, and 262 patients without systemic autoimmune diseases, attending the outpatient department of the Tamil Nadu Government Dental College and Hospital, Chennai-3, constituted the case and control groups, respectively. Age, gender, and oral hygiene status matching was done. Oral hygiene status was assessed using oral hygiene index (OHI) and periodontal status was assessed using community periodontal index (CPI) and loss of attachment (LOA) index. Statistical analysis was done using SPSS version 15 (SPSS Inc, 2006, Chicago). Results showed 99.2% and 73.9% prevalence of gingivitis and periodontitis, respectively, in the case group as compared to 85.5% and 14.9%, respectively, in the control group. There is no linear relationship between OHI scores and prevalence of periodontitis (CPI and LOA scores) in the case group. Patients suffering from systemic autoimmune diseases showed more prevalence of periodontal diseases irrespective of oral hygiene scores. It is postulated that the presence of systemic autoimmune diseases may pose a risk for the development of periodontal diseases.

Transmission of Multidrug-Resistant and Drug-Susceptible Tuberculosis within Households: A Prospective Cohort Study

PubMed Central

Grandjean, Louis; Gilman, Robert H.; Martin, Laura; Soto, Esther; Castro, Beatriz; Lopez, Sonia; Coronel, Jorge; Castillo, Edith; Alarcon, Valentina; Lopez, Virginia; San Miguel, Angela; Quispe, Neyda; Asencios, Luis; Dye, Christopher; Moore, David A. J.

2015-01-01

Background The “fitness” of an infectious pathogen is defined as the ability of the pathogen to survive, reproduce, be transmitted, and cause disease. The fitness of multidrug-resistant tuberculosis (MDRTB) relative to drug-susceptible tuberculosis is cited as one of the most important determinants of MDRTB spread and epidemic size. To estimate the relative fitness of drug-resistant tuberculosis cases, we compared the incidence of tuberculosis disease among the household contacts of MDRTB index patients to that among the contacts of drug-susceptible index patients. Methods and Findings This 3-y (2010–2013) prospective cohort household follow-up study in South Lima and Callao, Peru, measured the incidence of tuberculosis disease among 1,055 household contacts of 213 MDRTB index cases and 2,362 household contacts of 487 drug-susceptible index cases. A total of 35/1,055 (3.3%) household contacts of 213 MDRTB index cases developed tuberculosis disease, while 114/2,362 (4.8%) household contacts of 487 drug-susceptible index patients developed tuberculosis disease. The total follow-up time for drug-susceptible tuberculosis contacts was 2,620 person-years, while the total follow-up time for MDRTB contacts was 1,425 person-years. Using multivariate Cox regression to adjust for confounding variables including contact HIV status, contact age, socio-economic status, and index case sputum smear grade, the hazard ratio for tuberculosis disease among MDRTB household contacts was found to be half that for drug-susceptible contacts (hazard ratio 0.56, 95% CI 0.34–0.90, p = 0.017). The inference of transmission in this study was limited by the lack of genotyping data for household contacts. Capturing incident disease only among household contacts may also limit the extrapolation of these findings to the community setting. Conclusions The low relative fitness of MDRTB estimated by this study improves the chances of controlling drug-resistant tuberculosis. However, fitter multidrug-resistant strains that emerge over time may make this increasingly difficult. PMID:26103620

Localized severe aggressive periodontitis. Disease progression and tooth preservation: a short case report over 14 years.

PubMed

Pelka, Matthias; Petschelt, Anselm

2009-04-01

A case of a 31-year-old female with aggressive periodontitis over 14 years is presented. From 1993 to 2000, no periodontal therapy occurred; disease development and progression could be reconstructed upon radiographic findings. In 2000, full-mouth disinfection therapy and antibiotic therapy was performed, as well as regenerative surgical treatments. Seven years after surgical treatment, stable periodontal conditions and clear bone regeneration in the surgical areas was evident.

Histopathological Changes of the Thyroid and Parathyroid Glands in HIV-Infected Patients.

PubMed

Cherqaoui, Rabia; Shakir, K M Mohamed; Shokrani, Babak; Madduri, Sujay; Farhat, Faria; Mody, Vinod

2014-01-01

Objective. To study histopathology of the thyroid and parathyroid glands in HIV-infected African Americans in the United States. Methods. A retrospective review of 102 autopsy cases done by the Department of Pathology at Howard University Hospital from 1980 through 2007 was conducted. The histopathological findings of the thyroid and parathyroid glands were reviewed, both macroscopically and microscopically. A control group of autopsy patients with chronic non-HIV diseases was examined. Results. There were 71 males (70%) and 31 females (30%) with an average age of 38 years (range: 20-71 y). Thirteen patients with abnormal thyroid findings were identified. Interstitial fibrosis was the most common histological finding (4.9%), followed by thyroid hyperplasia (1.9%). Infectious disease affecting the thyroid gland was limited to 2.9% and consisted of mycobacterium tuberculosis, Cryptococcus neoformans, and cytomegalovirus. Kaposi sarcoma of the thyroid gland was present in only one case (0.9%). Parathyroid hyperplasia was the most common histological change noted in the parathyroid glands. Comparing the histological findings of cases and controls, we found a similar involvement of the thyroid, with a greater prevalence of parathyroid hyperplasia in HIV patients. Conclusion. Thyroid and parathyroid abnormalities are uncommon findings in the HIV-infected African American population.

A Comparison between 18F-FDG PET/CT Imaging and Biological and Radiological Findings in Restaging of Hepatoblastoma Patients

PubMed Central

Treglia, Giorgio; Pagano, Manuela; Fania, Piercarlo; Basso, Maria Eleonora; Fagioli, Franca; Ficola, Umberto

2013-01-01

Background. In this study we retrospectively evaluated if 18F-FDG-PET/CT provided incremental diagnostic information over CI in a group of hepatoblastoma patients performing restaging. Procedure. Nine patients (mean age: 5.9 years; range: 3.1–12 years) surgically treated for hepatoblastoma were followed up by clinical examination, serum α-FP monitoring, and US. CI (CT or MRI) and PET/CT were performed in case of suspicion of relapse. Fine-needle aspiration biopsies (FNAB) were carried out for final confirmation if the results of CI, PET/CT, and/or α-FP levels were suggestive of relapse. PET/CT and CI findings were analyzed for comparison purposes, using FNAB as reference standard. Results. α-FP level was suggestive of disease recurrence in 8/9 patients. Biopsy was performed in 8/9 cases. CI and PET/CT resulted to be concordant in 5/9 patients (CI identified recurrence of disease, but 18F-FDG-PET/CT provided a better definition of disease extent); in 4/9 cases, CI diagnostic information resulted in negative findings, whereas PET/CT correctly detected recurrence of disease. 18F-FDG-PET/CT showed an agreement of 100% (8/8) with FNAB results. Conclusions. 18F-FDG-PET/CT scan seems to better assess HB patients with respect to CI and may provide incremental diagnostic value in the restaging of this group of patients. PMID:24063012

Celiac disease causing severe osteomalacia: an association still present in Morocco!

PubMed

Tahiri, Latifa; Azzouzi, Hamida; Squalli, Ghita; Abourazzak, Fatimazahra; Harzy, Taoufik

2014-01-01

Celiac disease (CD), a malabsorption syndrome caused by hypersensitivity to gliadin fraction of gluten. CD can manifest with classic symptoms; however, significant myopathy and multiple fractures are rarely the predominant presentation of untreated celiac disease. Osteomalacia complicating celiac disease had become more and more rare. We describe here a case of osteomalacia secondary to a longstanding untreated celiac disease. This patient complained about progressive bone and muscular pain, weakness, fractures and skeletal deformities. Radiological and laboratory findings were all in favor of severe osteomalacia. Improvement of patient's weakness and laboratory abnormalities was obvious after treatment with gluten free diet, vitamin D, calcium and iron. This case affirms that chronic untreated celiac disease, can lead to an important bone loss and irreversible complications like skeletal deformities.

Celiac disease causing severe osteomalacia: an association still present in Morocco!

PubMed Central

Tahiri, Latifa; Azzouzi, Hamida; Squalli, Ghita; Abourazzak, Fatimazahra; Harzy, Taoufik

2014-01-01

Celiac disease (CD), a malabsorption syndrome caused by hypersensitivity to gliadin fraction of gluten. CD can manifest with classic symptoms; however, significant myopathy and multiple fractures are rarely the predominant presentation of untreated celiac disease. Osteomalacia complicating celiac disease had become more and more rare. We describe here a case of osteomalacia secondary to a longstanding untreated celiac disease. This patient complained about progressive bone and muscular pain, weakness, fractures and skeletal deformities. Radiological and laboratory findings were all in favor of severe osteomalacia. Improvement of patient's weakness and laboratory abnormalities was obvious after treatment with gluten free diet, vitamin D, calcium and iron. This case affirms that chronic untreated celiac disease, can lead to an important bone loss and irreversible complications like skeletal deformities. PMID:25667705

Coats' disease and congenital retinoschisis in a single eye: a case report and DNA analysis.

PubMed

Berinstein, D M; Hiraoka, M; Trese, M T; Shastry, B S

2001-01-01

The clinical features of Coats' disease and congenital retinoschisis (RS) are distinctly different. Therefore, finding changes consistent with Coats' disease and congenital RS in a single eye is an unusual occurrence. The following report describes two cases with a Coats' telangiectatic lesion in one region of the retina separated by normal retina and the presence of central and peripheral congenital RS. Molecular genetic analysis of the Norrie disease and RS genes failed to identify disease-causing or polymorphic mutations in either of the genes, suggesting that the above condition is clinically and genetically a different disorder. Further studies are needed to identify the genes responsible for the above disorder and associated ocular manifestations. Copyright 2001 S. Karger AG, Basel.

Dangerous space emphysema after dental treatment

PubMed Central

Hagr, Abdulrahman

2010-01-01

We report the case of an elderly female patient who presented with dangerous space emphysema occurring after a dental procedure. This case presented a diagnostic and management dilemma because of the development of an unusual complication of dental disease. In our review of the medical literature, we were unable to find any cases with similar manifestations and clinical courses. PMID:20835314

Marek's disease in backyard chickens, a study of pathological findings and viral loads in tumorous and non-tumorous birds

USDA-ARS?s Scientific Manuscript database

Marek’s disease (MD) is a major cause of mortality in backyard chickens. The diagnosis of MD is complex, however, and knowledge on Marek’s disease virus (MDV) in spontaneous field cases such as in backyard chickens is largely unknown. Forty backyard chickens with presumptive MD diagnosis based on hi...

Hypertension-misattributed kidney disease in African Americans.

PubMed

Skorecki, Karl L; Wasser, Walter G

2013-01-01

Lipkowitz et al. extend the African American Study of Kidney Disease and Hypertension to the level of genetic epidemiology, in a case-control study design. Analysis of genotypes at the APOL1 kidney disease risk region supports a paradigm shift in which genetic risk is proximate to both kidney disease and hypertension. The findings mandate urgency in clarifying mechanisms whereby APOL1 region risk variants interact with environmental triggers to cause progressive kidney disease accompanied by dangerous hypertension.

Association of brain abscess with a mycotic aneurysm of the contralateral internal carotid artery in a patient of cyanotic heart disease

PubMed Central

Bansal, Sumit; Borkar, Sachin A.; Mahapatra, Ashok K.

2017-01-01

Congenital cyanotic heart disease can lead to intra-cranial involvement. Authors report a very rare case of right intra-cerebral abscess diagnosed on computerized tomography (CT) scan and simultaneous presence of an aneurysm of the left internal carotid artery diagnosed on CT angiogram in a 15-year-old child with congenital cyanotic heart disease with recent onset left hemiparesis. Right cerebral abscess was tapped and left internal carotid aneurysm was planned to be followed up by giving antibiotics and serial angiograms, but he could not survive and died due to non-cranial cause. We conclude that cerebral angiography is necessary to diagnose cerebro-vascular complications, including infectious aneurysms, in cases presenting with unusual findings on neuroimaging study. Patient must undergo serial angiography while being on intravenous antibiotics. Intervention (either surgical or endovascular) should be considered if there are no signs of regression of size of aneurysm or in the presence of aneurysm rupture. We have not been able to find a similar case in the English literature. PMID:28484536

Early recognition of Cushing's disease: a case study.

PubMed

Iuliano, Sherry L; Laws, Edward R

2013-08-01

To present a case study of a 34-year-old woman with Cushing's disease and provide nurse practitioners (NPs) with the understanding of the clinical presentation needed for early recognition and treatment of the disease. A comprehensive review of published literature on Cushing's disease. Findings from history, physical examination, and diagnostic studies of a woman presenting to primary care NPs, physicians and other healthcare providers with multiple symptoms of Cushing's disease. Cushing's disease is the result of the pituitary gland producing excess amounts of adrenocorticotropic hormone (ACTH) causing the overproduction of cortisol. The disease is fairly rare and is seen mostly in women. Common chief complaints include increased facial hair, weight gain, amenorrhea, changes in the face, neck, and abdomen, with muscle wasting of the lower extremities. Untreated, diabetes mellitus and hypertension can occur and increase the patient's morbidity and mortality. Early recognition and appropriate referral can reverse the signs and symptoms over time and lead to a significantly improved quality of life. This case presented the challenges faced by NPs and physicians in diagnosing patients with Cushing's disease. ©2013 The Author(s) ©2013 American Association of Nurse Practitioners.

78 FR 941 - Findings of Research Misconduct

Federal Register 2010, 2011, 2012, 2013, 2014

2013-01-07

... DEPARTMENT OF HEALTH AND HUMAN SERVICES Office of the Secretary Findings of Research Misconduct... Research Integrity (ORI) has taken final action in the following case: Paul J. Muchowski, Ph.D., The J..., engaged in research misconduct in research supported by National Institute of Neurological Diseases and...

Zygomatic salivary gland diseases in the dog: three cases diagnosed by MRI.

PubMed

Boland, Laetitia; Gomes, Eymeric; Payen, Guillaume; Bouvy, Bernard; Poncet, Cyrill

2013-01-01

This article describes three original cases of zygomatic gland disease in the dog diagnosed by low-field MRI and treated by a modified lateral orbitotomy with zygomatic osteotomy. Presenting complaints included exophthalmia, protrusion of the third eyelid, and periorbital swelling without any history of trauma. Low-field MRI allowed for adequate diagnosis of zygomatic gland disease in all cases and provided detailed information about both the specific tissue characteristics of each lesion and extension into surrounding structures. MRI findings were also helpful for surgical planning and dictated the choice of a modified lateral orbitotomy without removal of the orbital ligament. Histopathologic diagnosis for each of the three dogs was a mucocele, a malignant mixed salivary tumor, and sialadenitis.

Family motivation card: An innovative tool for increasing case detection in a resource poor setting.

PubMed

Padhi, Tanmay; Pradhan, Swetalina

2015-06-01

Leprosy is a chronic infectious disease, causing various physical disabilities and deformities. Even today, stigma leads to late detection of new cases. Household contacts are considered a primary focus for the spread of infection. To find new cases among household contacts of leprosy patients by providing a family motivation card (FMC) to each leprosy patient, thereby enabling early diagnosis and treatment leading to a decrease in disease and disability burden in the community. 100 patients diagnosed with leprosy (both new and old cases) were enrolled in the study. All patients were provided with a family motivation card. The purpose of giving the card was discussed in detail with each patient. New family contacts brought by old patients were examined thoroughly for the presence of leprosy. Digital color photographs were taken of all family contacts. Data analysis was done. 23 new cases of leprosy (15 (65%) MB and eight (35%) PB cases) were detected among family members of primary cases. Most cases belonged to the under 15 years (43.47%) and over 60 years (34.78%) age groups. Adoption of a simple, cheap yet effective strategy such as the FMC could act as a bridge between intensive case-finding approaches, such as the Modified Leprosy Elimination Campaign (MLEC) and voluntary reporting.

Elevated blood lead levels among adults in Massachusetts, 1991-1995.

PubMed

Tumpowsky, C M; Davis, L K; Rabin, R

2000-01-01

Lead poisoning, the oldest recognized occupational disease, remains a danger for children and adults. Data collected for 664 cases reported to the Massachusetts Occupational Lead Registry in 1991-1995 were summarized in a 1998 state report. Here, the authors present some of the key findings from that report for a wider audience. The authors summarize key findings of the 1998 state report. Construction workers, in particular licensed deleaders and house painters, accounted for almost 70% of occupational cases involving blood lead levels > or = 40 micrograms of lead per deciliter (mcg/dl) of blood. Among 100 workers with the highest blood lead levels (> or = 60 mcg/dl), 29% were house painters. Hispanic workers were over-represented in the Registry. A small proportion of cases were non-occupational, typically associated with recreational use of firing ranges or do-it-yourself home renovations. Lead poisoning is a preventable disease, yet these data indicate that additional prevention efforts are warranted.

Neurosurgical rare disease: solitary plasmacytoma of the skull - case report and literature review.

PubMed

Rizea, Radu Eugen; Popescu, Mihai; Gheorghiţă, Karina Lidia; Popescu, George; Neamţu, Marius Cristian; Busuioc, Cristina Jana; Ciurea, Alexandru Vlad

2018-01-01

Solitary extranevraxial plasmacytoma (SEP), as a clinical entity without signs of systemic myelomatosis, is extremely rare; it is difficult to find literature on the issue of patient management and proper course of action in the presence of associated pathology. The authors present a rare case of plasmacytoma of the skull vault associated with severe cardiac pathology, which made surgery extremely difficult and possible only through temporization of the interventions, as presented. We discuss our findings and opportunities for treatment in this case, which seemed unapproachable at presentation, in connection with the associated cardiac pathology. The case was followed-up for eight years with no recurrences.

Ptosis, extraocular motility disorder, and myopia as features of pompe disease.

PubMed

Slingerland, Niki W R; Polling, Jan Roelof; van Gelder, Catharina M; van der Ploeg, Ans T; Bleyen, Isabel

2011-03-01

The assets of this report are a thorough description of new clinical findings, namely the combination of ptosis, extraocular motility disorder and myopia, in consequence of prolonged survival in classic infantile-onset Pompe disease through enzyme therapy. Single case description. This manuscript describes a combination of ptosis, extraocular motility disorder and myopia in a 4.5-year-old patient with classic infantile-onset Pompe disease, who survived through enzyme therapy. This patient was treated with a bilateral frontalis suspension (modified Crawford technique) using prolene 3-0 sutures. The combination of ptosis, extraocular motility disorder and myopia, is a new clinical finding in children with classic infantile-onset Pompe disease.

An effective framework for finding similar cases of dengue from audio and text data using domain thesaurus and case base reasoning

NASA Astrophysics Data System (ADS)

Sandhu, Rajinder; Kaur, Jaspreet; Thapar, Vivek

2018-02-01

Dengue, also known as break-bone fever, is a tropical disease transmitted by mosquitoes. If the similarity between dengue infected users can be identified, it can help government's health agencies to manage the outbreak more effectively. To find similarity between cases affected by Dengue, user's personal and health information are the two fundamental requirements. Identification of similar symptoms, causes, effects, predictions and treatment procedures, is important. In this paper, an effective framework is proposed which finds similar patients suffering from dengue using keyword aware domain thesaurus and case base reasoning method. This paper focuses on the use of ontology dependent domain thesaurus technique to extract relevant keywords and then build cases with the help of case base reasoning method. Similar cases can be shared with users, nearby hospitals and health organizations to manage the problem more adequately. Two million case bases were generated to test the proposed similarity method. Experimental evaluations of proposed framework resulted in high accuracy and low error rate for finding similar cases of dengue as compared to UPCC and IPCC algorithms. The framework developed in this paper is for dengue but can easily be extended to other domains also.

Unusual Presentation of Unilateral Isolated Probable Lyme Optic Neuritis.

PubMed

Burakgazi, Ahmet Z; Henderson, Carl S

2016-01-01

Optic neuritis (ON) is one of the most common manifestations of central nervous system involvement caused by various etiologies. Lyme ON is an exceedingly rare ocular manifestation of Lyme disease (LD) and only a few cases have been published in the literature. Lyme ON is very rare but should be included in the differential diagnosis in unexplained cases, particularly in Lyme endemic areas. Careful and detailed examination and investigation are warranted to make the diagnosis. We report this case to increase awareness of clinicians to include Lyme disease in differential diagnosis of ON for unexplained cases of ON. Herein we present a unique case with a unilateral ON caused by LD along with pre- and posttreatment findings and literature review.

Five cases of vector-borne Francisella tularensis holarctica infections in south-western Germany and genetic diversity.

PubMed

Borde, Johannes P; Zange, Sabine; Antwerpen, Markus H; Georgi, Enrico; von Buttlar, Heiner; Kern, Winfried V; Rieg, Siegbert

2017-08-01

Tularemia is a rare zoonotic disease in Germany. Francisella tularensis has been isolated previously from ticks in southern Germany underscoring the importance of ticks (Ixodes ricinus) in tularemia transmission, but there have been only few reports from this region with single cases or small case series of tick-borne transmissions of tularemia. We report five cases of non-game animal associated tularemia diagnosed from 2010 to 2016 in southwestern Germany - Baden-Wuerttemberg. Our case series and molecular typing (MLVA) results add published clinical experience to this underdiagnosed disease and consolidate previous findings regarding tick-borne transmission of tularemia and phylogenetic diversity in Germany. Copyright © 2017 Elsevier GmbH. All rights reserved.

Pulmonary and cardiac pathology in sudden unexpected death in epilepsy (SUDEP).

PubMed

Nascimento, Fábio A; Tseng, Zian H; Palmiere, Cristian; Maleszewski, Joseph J; Shiomi, Takayuki; McCrillis, Aileen; Devinsky, Orrin

2017-08-01

To review studies on structural pulmonary and cardiac changes in SUDEP cases as well as studies showing pulmonary or cardiac structural changes in living epilepsy patients. We conducted electronic literature searches using the PubMed database for articles published in English, regardless of publication year, that included data on cardiac and/or pulmonary structural abnormalities in SUDEP cases or in living epilepsy patients during the postictal period. Fourteen postmortem studies reported pulmonary findings in SUDEP cases. Two focused mainly on assessing lung weights in SUDEP cases versus controls; no group difference was found. The other 12 reported descriptive autopsy findings. Among all SUDEP cases with available descriptive postmortem pulmonary examination, 72% had pulmonary changes, most often pulmonary edema/congestion, and, less frequently, intraalveolar hemorrhage. Eleven studies reported on cardiac pathology in SUDEP. Cardiac abnormalities were found in approximately one-fourth of cases. The most common findings were myocyte hypertrophy and myocardial fibrosis of various degrees. Among living epilepsy patients, postictal pulmonary pathology was the most commonly reported pulmonary abnormality and the most common postictal cardiac abnormality was transient left ventricular dysfunction - Takotsubo or neurogenic stunned myocardium. Cardiac and pulmonary pathological abnormalities are frequent among SUDEP cases, most commonly pulmonary edema/congestion and focal interstitial myocardial fibrosis. Most findings are not quantified, with subjective elements and undefined interobserver reliability, and lack of controls such as matched epilepsy patients who died from other causes. Further, studies have not systematically evaluated potential confounding factors, including postmortem interval to autopsy, paramedic resuscitation and IV fluids administration, underlying heart/lung disease, and risk factors for cardiac or pulmonary disease. Prospective studies with controls are needed to define the heart and lung changes in SUDEP and understand their potential relationship to mechanisms of death in SUDEP. Copyright © 2017 Elsevier Inc. All rights reserved.

Targeted case finding for chronic obstructive pulmonary disease versus routine practice in primary care (TargetCOPD): a cluster-randomised controlled trial.

PubMed

Jordan, Rachel E; Adab, Peymané; Sitch, Alice; Enocson, Alexandra; Blissett, Deirdre; Jowett, Sue; Marsh, Jen; Riley, Richard D; Miller, Martin R; Cooper, Brendan G; Turner, Alice M; Jolly, Kate; Ayres, Jon G; Haroon, Shamil; Stockley, Robert; Greenfield, Sheila; Siebert, Stanley; Daley, Amanda J; Cheng, K K; Fitzmaurice, David

2016-09-01

Many individuals with chronic obstructive pulmonary disease (COPD) remain undiagnosed worldwide. Health-care organisations are implementing case-finding programmes without good evidence of which are the most effective and cost-effective approaches. We assessed the effectiveness and cost-effectiveness of two alternative approaches to targeted case finding for COPD compared with routine practice. In this cluster-randomised controlled trial, participating general practices in the West Midlands, UK, were randomly assigned (1:1), via a computer-generated block randomisation sequence, to either a targeted case-finding group or a routine care group. Eligible patients were ever-smokers aged 40-79 years without a previously recorded diagnosis of COPD. Patients in the targeted case-finding group were further randomly assigned (1:1) via their household to receive either a screening questionnaire at the general practitioner (GP) consultation (opportunistic) or a screening questionnaire at the GP consultation plus a mailed questionnaire (active). Respondents reporting relevant respiratory symptoms were invited for post-bronchodilator spirometry. Patients, clinicians, and investigators were not masked to allocation, but group allocation was concealed from the researchers who performed the spirometry assessments. Primary outcomes were the percentage of the eligible population diagnosed with COPD within 1 year (defined as post-bronchodilator forced expiratory volume in 1 s [FEV1] to forced vital capacity [FVC] ratio <0·7 in patients with symptoms or a new diagnosis on their GP record) and cost per new COPD diagnosis. Multiple logistic and Poisson regression were used to estimate effect sizes. Costs were obtained from the trial. This trial is registered with ISRCTN, number ISRCTN14930255. From Aug 10, 2012, to June 22, 2014, 74 818 eligible patients from 54 diverse general practices were randomly assigned and completed the trial. At 1 year, 1278 (4%) cases of COPD were newly detected in 32 789 eligible patients in the targeted case-finding group compared with 337 (1%) cases in 42 029 patients in the routine care group (adjusted odds ratio [OR] 7·45 [95% CI 4·80-11·55], p<0·0001). The percentage of newly detected COPD cases was higher in the active case-finding group (822 [5%] of 15 378) than in the opportunistic case-finding group (370 [2%] of 15 387; adjusted OR 2·34 [2·06-2·66], p<0·0001; adjusted risk difference 2·9 per 100 patients [95% CI 2·3-3·6], p<0·0001). Active case finding was more cost-effective than opportunistic case finding (£333 vs £376 per case detected, respectively). In this well established primary care system, routine practice identified few new cases of COPD. An active targeted approach to case finding including mailed screening questionnaires before spirometry is a cost-effective way to identify undiagnosed patients and has the potential to improve their health. National Institute for Health Research. Copyright © 2016 Elsevier Ltd. All rights reserved.

Clinical Severity of Clostridium difficile PCR Ribotype 027: A Case-Case Study

PubMed Central

Morgan, Oliver W.; Rodrigues, Boaventura; Elston, Tony; Verlander, Neville Q.; Brown, Derek F. J.; Brazier, Jonathan; Reacher, Mark

2008-01-01

Background Clostridium difficile is a leading infectious cause of health care associated diarrhoea. Several industrialised countries have reported increased C. difficile infections and outbreaks, which have been attributed to the emergent PCR ribotype 027 strain. Methods and Findings We conducted a case-case study to compare severity of C. difficile disease for patients with 027 versus non-027 ribotypes. We retrospectively collected clinical information about 123/136 patients with C. difficile infections admitted to hospitals in the East of England region in 2006 and from whom stool isolates were cultured and ribotyped as part of an earlier national survey. We defined severe C. difficile disease as having one or more of shock, paralytic ileus, pseudo membranous colitis or toxic megacolon. Patient median age was 83 years old (range 3 to 98, interquartile range 75 to 89), 86% were prescribed antibiotics in the eight weeks before illness onset, 41% had ribotype 027 and 30-day all cause mortality during hospital admission was 21%. Severe disease occurred in 24% (95%CI 13% to 37%) and 17% (95%CI 9% to 27%) of patients with PCR ribotype 027 and non-027 ribotypes respectively. In a multivariable model, ribotype 027 was not associated with severe disease after adjusting for sex, discharge from hospital prior to 60 days of current admission, gastroenteritis on admission, number of initiator antibiotics for C. difficile disease, and hospital where the patient was admitted. Conclusions Our study found no evidence to support previous assertions that ribotype 027 is more virulent than other PCR ribotypes. This finding raises questions about the contribution of this strain to the recent increase in C. difficile disease throughout North America and Europe. PMID:18350149

Rare Disease Terminology and Definitions-A Systematic Global Review: Report of the ISPOR Rare Disease Special Interest Group.

PubMed

Richter, Trevor; Nestler-Parr, Sandra; Babela, Robert; Khan, Zeba M; Tesoro, Theresa; Molsen, Elizabeth; Hughes, Dyfrig A

2015-09-01

At present, there is no universal definition of rare disease. To provide an overview of rare disease definitions currently used globally. We systematically searched for definitions related to rare disease from organizations in 32 international jurisdictions. Descriptive statistics of definitions were generated and prevalence thresholds were calculated. We identified 296 definitions from 1109 organizations. The terms "rare disease(s)" and "orphan drug(s)" were used most frequently (38% and 27% of the definitions, respectively). Qualitative descriptors such as "life-threatening" were used infrequently. A prevalence threshold was specified in at least one definition in 88% of the jurisdictions. The average prevalence threshold across organizations within individual jurisdictions ranged from 5 to 76 cases/100,000 people. Most jurisdictions (66%) had an average prevalence threshold between 40 and 50 cases/100,000 people, with a global average of 40 cases/100,000 people. Prevalence thresholds used by different organizations within individual jurisdictions varied substantially. Across jurisdictions, umbrella patient organizations had the highest (most liberal) average prevalence threshold (47 cases/100,000 people), whereas private payers had the lowest threshold (18 cases/100,000 people). Despite variation in the terminology and prevalence thresholds used to define rare diseases among different jurisdictions and organizations, the terms "rare disease" and "orphan drug" are used most widely and the average prevalence threshold is between 40 and 50 cases/100,000 people. These findings highlight the existing diversity among definitions of rare diseases, but suggest that any attempts to harmonize rare disease definitions should focus on standardizing objective criteria such as prevalence thresholds and avoid qualitative descriptors. Copyright © 2015 International Society for Pharmacoeconomics and Outcomes Research (ISPOR). Published by Elsevier Inc. All rights reserved.

Sarcoidosis Presenting Addison's Disease.

PubMed

Takahashi, Kentaro; Kagami, Shin-Ichiro; Kawashima, Hirotoshi; Kashiwakuma, Daisuke; Suzuki, Yoshio; Iwamoto, Itsuo

2016-01-01

We herein describe a second Japanese case of sarcoidosis presenting Addison's disease. A 52-year-old man was diagnosed with sarcoidosis based on clinical and laboratory findings, including bilateral hilar lymphadenopathy and elevated levels of serum angiotensin-converting enzyme and lysozyme, as well as the presence of noncaseating epithelioid granulomas. The patient also exhibited general fatigue, pigmentation, weight loss, hypotension and hyponatremia, suggestive of chronic adrenocortical insufficiency. An endocrine examination confirmed primary adrenocortical insufficiency. This case suggests the direct involvement of sarcoid granuloma in the adrenal glands.

Cavitary pulmonary nodules in atypical collagen disease and lupoid drug reaction. Report of two cases.

PubMed

Muren, C; Strandberg, O

1989-01-01

The case histories of two patients with cavitary pulmonary nodules and the findings at chest radiography are reviewed. The first patient had a connective tissue disease with features common to systematic lupus erythematosus and Wegener's granulomatosis. In the second patient the lung changes developed as part of a drug reaction to carbamezapine and/or phenytoin. The common denominator of the cavitating nodules is probably the presence of granulomas, developing as a sequela of pulmonary vasculitis.

Fulminant ischaemic colitis with atypical clinical features complicating sickle cell disease.

PubMed

Karim, Anita; Ahmed, S; Rossoff, Leonard J; Siddiqui, R; Fuchs, A; Multz, A S

2002-06-01

Clinically significant ischaemic bowel injury is an exceedingly rare complication of sickle cell disease. It manifests as acute surgical abdomen and may respond to conservative treatment. An unusual fatal case of ischaemic colitis with minimal abdominal findings in a young male during a sickle cell vaso-occlusive pain crisis is described. This case demonstrates that an acute surgical abdomen should be considered in such patients who fail to respond to conservative management as untreated this condition may be fatal.

[Acute Chagas' disease in an 80-year-old woman in Mexico. An anatomicopathological report].

PubMed

Lozano Kasten, F; Sánchez Cruz, G; Gonzáles Bartell, M; Prata, A; Lopes, E R

1993-01-01

A case of acute Chagas' disease, diagnosed by necropsy, in a 80-year-old woman, is reported. It is assumed that infection was acquired through triatomine bite in Zacoelo de Torres, Jalisco State, Mexico. There were lesions due to Aoffican trypanosomiasis in the heart, esophagus and bowel. Autonomic nervous lesions were detected in the esophagus and bowel. It is emphasized the importance of these findings in an area where few cases of megas were reported.

Atypical lymphoplasmacytic and immunoblastic proliferation of autoimmune disease : clinicopathologic and immunohistochemical study of 9 cases.

PubMed

Kojima, Masaru; Nakamura, Naoya; Tsukamoto, Norihumi; Itoh, Hideaki; Matsuda, Hazuki; Kobayashi, Satsuki; Ueki, Kazue; Irisawa, Hiroyuki; Murayama, Kayoko; Igarashi, Tadahiko; Masawa, Nobuhide; Nakamura, Shigeo

2010-01-01

Atypical lymphoplasmacytic immunoblastic proliferation (ALPIB) is a rare lymphoproliferative disorder (LPD) associated with autoimmune disease (AID). To further clarify the clinicopathologic, immunohistological, and genotypic findings of ALPIB in lymph nodes associated with well-documented AIDs, 9 cases are presented. These 9 patients consisted of 4 patients with systemic lupus erythematosus, 3 patients with rheumatoid arthritis, and one case each with Sjögren's syndrome and dermatomyositis. All 9 patients were females aged from 25 to 71 years with a median age of 49 years. Four cases presented with lymphadenopathy as the initial manifestation. In 4 patients, immunosuppressive drugs were administered before the onset of lymph node lesion. However, none of the 9 patients received methotrexate therapy. The present 9 cases were characterized by : (i) prominent lymphoplasmacytic and B-immunoblastic infiltration ; (ii) absence of pronounced arborizing vascular proliferation ; (iii) absence of CD10(+) "clear cells" ; (iv) presence of hyperplastic germinal center in 7 cases ; (v) immunohistochemistry, flow cytometry, and polymerase chain reaction demonstrated a reactive nature of the T- and B-lymphocytes ; and (vi) on in situ hybridization, there were no Epstein-Barr virus -infected lymphoid cells in any of the 9 cases. Overall 5-year survival of our patients was 83%. The combination of clinical, immunophenotypic, and genotypic findings indicated that the present 9 cases can be regarded as having an essentially benign reactive process. Finally, we emphasized that ALPIB should be added to the differential diagnostic problems of atypical LPDs, particularly lymph node lesions of IgG4-related diseases.

Allopurinol use in pregnancy in three women with inflammatory bowel disease: safety and outcomes: a case series

PubMed Central

2013-01-01

Background Allopurinol is a frequently prescribed drug. In inflammatory bowel disease patients who shunt thiopurine metabolism towards more toxic and less desirable pathways, allopurinol is proving to be an effective add on therapy with good resultant disease control and less treatment side effects. As many such patients are young, the potential for pregnant women to be exposed to allopurinol is increasing. The safety of allopurinol in pregnancy is not known however. Case presentation We report three cases of safe use of allopurinol in pregnancy for women with inflammatory bowel disease. This included 2 patients with ulcerative colitis and 1 patient with fistulising Crohn’s disease. Allopurinol was used throughout pregnancy in all patients. All 3 pregnancies resulted in normal healthy babies born at term by Caesarean section. Conclusion It is important to evaluate and document the safety of allopurinol during pregnancy, as it is finding new roles in young patients. These three cases add significantly to the very limited data on allopurinol use in pregnancy. We encourage reporting of all cases of allopurinol use in pregnant patients and suggest an allopurinol pregnancy registry to document drug exposures and outcomes. PMID:24345189

Diagnostic criteria and follow-up in neuroendocrine cell hyperplasia of infancy: a case series*

PubMed Central

Gomes, Vivianne Calheiros Chaves; Silva, Mara Cristina Coelho; Maia, José Holanda; Daltro, Pedro; Ramos, Simone Gusmão; Brody, Alan S.; Marchiori, Edson

2013-01-01

OBJECTIVE: Neuroendocrine cell hyperplasia of infancy (NEHI) is a form of childhood interstitial lung disease characterized by tachypnea, retractions, crackles, and hypoxia. The aim of this study was to report and discuss the clinical, imaging, and histopathological findings in a series of NEHI cases at a tertiary pediatric hospital, with an emphasis on diagnostic criteria and clinical outcomes. METHODS: Between 2003 and 2011, 12 full-term infants were diagnosed with NEHI, based on clinical and tomographic findings. Those infants were followed for 1-91 months. Four infants were biopsied, and the histopathological specimens were stained with bombesin antibody. RESULTS: In this case series, symptoms appeared at birth in 6 infants and by 3 months of age in the remaining 6. In all of the cases, NEHI was associated with acute respiratory infection. The most common initial chest HRCT findings were ground-glass opacities that were in the middle lobe/lingula in 12 patients and in other medullary areas in 10. Air trapping was the second most common finding, being observed in 7 patients. Follow-up HRCT scans (performed in 10 patients) revealed normal results in 1 patient and improvement in 9. The biopsy findings were nonspecific, and the staining was positive for bombesin in all samples. Confirmation of NEHI was primarily based on clinical and tomographic findings. Symptoms improved during the follow-up period (mean, 41 months). A clinical cure was achieved in 4 patients. CONCLUSIONS: In this sample of patients, the diagnosis of NEHI was made on the basis of the clinical and tomographic findings, independent of the lung biopsy results. Most of the patients showed clinical improvement and persistent tomographic changes during the follow-up period, regardless of the initial severity of the disease or type of treatment. PMID:24310630

Effects of Gluten Intake on Risk of Celiac Disease: A Case-Control Study on a Swedish Birth Cohort.

PubMed

Andrén Aronsson, Carin; Lee, Hye-Seung; Koletzko, Sibylle; Uusitalo, Ulla; Yang, Jimin; Virtanen, Suvi M; Liu, Edwin; Lernmark, Åke; Norris, Jill M; Agardh, Daniel

2016-03-01

Early nutrition may affect the risk of celiac disease. We investigated whether amount of gluten in diet until 2 years of age increases risk for celiac disease. We performed a 1-to-3 nested case-control study of 146 cases, resulting in 436 case-control pairs matched for sex, birth year, and HLA genotype generated from Swedish children at genetic risk for celiac disease. Newborns were annually screened for tissue transglutaminase autoantibodies (tTGA). If tested tTGA positive, time point of seroconversion was determined from frozen serum samples taken every 3 months. Celiac disease was confirmed by intestinal biopsies. Gluten intake was calculated from 3-day food records collected at ages 9, 12, 18 and 24 months. Odds ratios (OR) were calculated through conditional logistic regression. Breastfeeding duration (median, 32 wk) and age at first introduction to gluten (median, 22 wk) did not differ between cases and tTGA-negative controls. At the visit before tTGA seroconversion, cases reported a larger intake of gluten than controls (OR, 1.28; 95% confidence interval [CI], 1.13-1.46; P = .0002). More cases than controls were found in the upper third tertile (ie, >5.0 g/d) before they tested positive for tTGA seroconversion than controls (OR, 2.65; 95% CI, 1.70-4.13; P < .0001). This finding was similar in children homozygous for DR3-DQ2 (OR, 3.19; 95% CI, 1.61-6.30; P = .001), heterozygous for DR3-DQ2 (OR, 2.24; 95% CI, 1.08-4.62; P = .030), and for children not carrying DR3-DQ2 (OR, 2.43; 95% CI, 0.90-6.54; P = .079). The amount of gluten consumed until 2 years of age increases the risk of celiac disease at least 2-fold in genetically susceptible children. These findings may be taken into account for future infant feeding recommendations. Copyright © 2016 AGA Institute. Published by Elsevier Inc. All rights reserved.

Risk for Travel-associated Legionnaires’ Disease, Europe, 2009

PubMed Central

Zucs, Phillip; de Jong, Birgitta

2012-01-01

Legionnaires’ disease is underreported in Europe; notification rates differ substantially among countries. Approximately 20% of reported cases are travel-associated. To assess the risk for travel-associated Legionnaires’ disease (TALD) associated with travel patterns in European countries, we retrieved TALD surveillance data for 2009 from the European Surveillance System, and tourism denominator data from the Statistical Office of the European Union. Risk (number cases reported/number nights spent) was calculated by travel country. In 2009, the network reported 607 cases among European travelers, possibly associated with 825 accommodation sites in European Union countries. The overall risk associated with travel abroad was 0.3 cases/million nights. We observed an increasing trend in risk from northwestern to southeastern Europe; Greece had the highest risk (1.7). Our findings underscore the need for countries with high TALD risks to improve prevention and control of legionellosis; and for countries with high TALD risks, but low notification rates of Legionnaires’ disease to improve diagnostics and reporting. PMID:23092591

Place of laparoscopy in pelvic inflammatory disease.

PubMed

Krishna, U R; Sheth, S S; Motashaw, N D

1979-06-01

577 laparoscopic examinations were performed in women presenting with sterility, chronic abdominal pain, primary or secondary amenorrhea, and irregular menstrual periods. 125 cases of chronic pelvic inflammatory disease (PID) of both the tuberculous and nonspecific varieties were detected through this procedure. 59 of the 125 cases were diagnosed as tuberculous. Investigations prior to laparoscopy had yielded significant results in only 12 cases. 87 of the 125 cases had no abnormal clinical findings, and only 18 of the 37 tubo-ovarian masses were diagnosed by bimanual examination. These results indicate that laparoscopy is an invaluable tool for the diagnosis of PID. It can reveal peritubal adhesions, tubercles on the tubes, small tubo-ovarian masses, and hydrosalpinx cases that cannot be detected clinically. It is considered a more suitable tool than culdoscopy, which less frequently notes adhesions to the fallopian tubes and pathological conditions in the upper pelvis. Laparoscopy can play an especially valuable role in India as a prelude to tuboplasty, given the high incidence of pelvic tuberculosis. Of the 316 cases of primary sterility examined in this study, 51 had genital tuberculosis and 39 had nonspecific PID. Laparoscopy can also be useful in disproving cases wrongly labelled as chronic pelvic disease. 15 women in this study who reported chronic lower abdominal pain had normal findings, and only 13 cases of PID were confirmed among the 33 cases preoperatively diagnosed as PID. A significant number of PID cases are attributed to operative procedures such as hysterosalpingography and ventrisuspension that are repeated unnecessarily and without proper sepsis. Thus, the possibility of a flare-up of infection during laparoscopy, especially due to hydroperturbation, should be considered. Women in this study who were found to have PID were given postoperative antibiotics. No significant postoperative complications were observed.

[Congenital cardiopathy and cerebral abscess].

PubMed

Paixão, A; de Andrade, F F; Sampayo, F

1989-01-01

During 1986 the authors came across two cases of brain abscess among children with congenital heart disease followed at the Pediatric Cardiology Service and decided to evaluate their global experience on the subject. In a retrospective study of 860 infants and children with cyanotic congenital heart disease and final diagnosis, there were four cases complicated with brain abscess. The following items were evaluated: prevalence of the complication, type of congenital heart disease, date and age at the diagnosis of brain abscess, diagnostic methods, neurosurgical treatment and results. The main findings were: all patients were above two years of age and had noncorrected cyanotic congenital heart disease belonging to the classic high risk group; the first two cases had been treated in other institutions and only scanty information was available; two recent cases had early diagnosis on CAT scan followed by neurosurgical treatment. All children survived. brain abscess is a rare but severe complication occurring in patients with noncorrected cyanotic congenital heart disease above two years of age; whenever prevention turns impossible, early diagnosis and treatment provide good short term and long term results. A multidisciplinar approach with full cooperation is advocated.

A case of chronic active Epstein-Barr virus infection mimicking adult-onset Still's disease.

PubMed

Yoshioka, Katsunobu; Fukushima, Hiroko; Ishii, Naomi; Kita, Akiko; Hanioka, Yusuke; Minami, Mieko; Inoue, Takeshi; Yamagami, Keiko

2013-01-01

An 83-year-old man was diagnosed with adult-onset Still's disease (AOSD) based on clinical and laboratory findings. However, glucocorticoid had little effect. Epstein-Barr virus (EBV)-DNA was detected in peripheral blood, and autopsy findings confirmed a diagnosis of chronic active EBV infection (CAEBV). CAEBV mimics AOSD, and the presence of articular involvement and leukocytosis does not exclude the possibility of CAEBV. CAEBV should be included in the differential diagnosis of AOSD, and measurement of EBV-DNA is essential.

Contribution of cerebrovascular disease in autopsy confirmed neurodegenerative disease cases in the National Alzheimer’s Coordinating Centre

PubMed Central

Toledo, Jon B.; Arnold, Steven E.; Raible, Kevin; Brettschneider, Johannes; Xie, Sharon X.; Grossman, Murray; Monsell, Sarah E.; Kukull, Walter A.

2013-01-01

Cerebrovascular disease and vascular risk factors are associated with Alzheimer’s disease, but the evidence for their association with other neurodegenerative disorders is limited. Therefore, we compared the prevalence of cerebrovascular disease, vascular pathology and vascular risk factors in a wide range of neurodegenerative diseases and correlate them with dementia severity. Presence of cerebrovascular disease, vascular pathology and vascular risk factors was studied in 5715 cases of the National Alzheimer’s Coordinating Centre database with a single neurodegenerative disease diagnosis (Alzheimer’s disease, frontotemporal lobar degeneration due to tau, and TAR DNA-binding protein 43 immunoreactive deposits, α-synucleinopathies, hippocampal sclerosis and prion disease) based on a neuropathological examination with or without cerebrovascular disease, defined neuropathologically. In addition, 210 ‘unremarkable brain’ cases without cognitive impairment, and 280 cases with pure cerebrovascular disease were included for comparison. Cases with cerebrovascular disease were older than those without cerebrovascular disease in all the groups except for those with hippocampal sclerosis. After controlling for age and gender as fixed effects and centre as a random effect, we observed that α-synucleinopathies, frontotemporal lobar degeneration due to tau and TAR DNA-binding protein 43, and prion disease showed a lower prevalence of coincident cerebrovascular disease than patients with Alzheimer’s disease, and this was more significant in younger subjects. When cerebrovascular disease was also present, patients with Alzheimer’s disease and patients with α-synucleinopathy showed relatively lower burdens of their respective lesions than those without cerebrovascular disease in the context of comparable severity of dementia at time of death. Concurrent cerebrovascular disease is a common neuropathological finding in aged subjects with dementia, is more common in Alzheimer’s disease than in other neurodegenerative disorders, especially in younger subjects, and lowers the threshold for dementia due to Alzheimer’s disease and α-synucleinopathies, which suggests that these disorders should be targeted by treatments for cerebrovascular disease. PMID:23842566

[Results of a post-marketing surveillance of meropenem administered over 2 g/day for serious infectious diseases].

PubMed

Wakisaka, Koji; Tani, Shunsuke; Ishibashi, Kazuo; Nukui, Kazuhiko; Nagao, Munehiko

2015-10-01

The post-marketing surveillance of meropenem (Meropen®) administered over 2g/day for serious infectious diseases was conducted between August 2011 and June 2013 to evaluate safety and efficacy under actual clinical use. There were 382 and 322 evaluable cases for safety and efficacy respectively, of 399 case cards collected from 87 institutions. In safety analysis, the incidence of adverse drug reactions (ADRs) associated with use of meropenem (including abnormal laboratory findings) was 19.1% (73/382 cases), and the main ADRs were hepatic function abnormal, aspartate aminotransferase increased, alanine aminotransferase increased, liver disorder, and diarrhoea, which were similar to these observed in the post-marketing surveillances of meropenem conducted before. In efficacy analysis, the efficacy was 73.6% (237/322 cases), which is as same as 71.4% (3214/4504 cases) of post-marketing surveillance of meropenem conducted after first approval under 2 g/day for infectious diseases. These results confirmed meropenem (Meropen®) is one of the useful antimicrobial agents for serious infectious diseases.

Transcutaneous bowel sonography for inflammatory bowel disease is sensitive and specific when performed in a nonexpert low-volume North American center.

PubMed

Sey, Michael Sai Lai; Gregor, Jamie; Chande, Nilesh; Ponich, Terry; Bhaduri, Mousumi; Lum, Andrea; Zaleski, Witek; Yan, Brian

2013-08-01

Transcutaneous bowel sonography is a nonionizing imaging modality used in inflammatory bowel disease. Although available in Europe, its uptake in North America has been limited. Since the accuracy of bowel sonography is highly operator dependent, low-volume centers in North America may not achieve the same diagnostic accuracy reported in the European literature. Our objective was to determine the diagnostic accuracy of bowel sonography in a nonexpert low-volume center. All cases of bowel sonography at a single tertiary care center during an 18-month period were reviewed. Bowel sonography was compared with reference standards, including small-bowel follow-through, computed tomography, magnetic resonance imaging, colonoscopy, and surgical findings. A total of 103 cases were included for analysis during the study period. The final diagnoses included Crohn disease (72), ulcerative colitis (8), hemolytic uremic syndrome (1), and normal (22). The sensitivity and specificity of bowel sonography for intestinal wall inflammation were 87.8% and 92.6%, respectively. In the subset of patients who had complications of Crohn disease, the sensitivity and specificity were 50% and 100% for fistulas and 14% and 100% for strictures. One patient had an abscess, which was detected by bowel sonography. Abnormal bowel sonographic findings contributed to the escalation of treatment in 55% of cases. Bowel sonography for inflammatory bowel disease can be performed in low-volume centers and provides diagnostic accuracy for luminal disease comparable with published data, although it is less sensitive for complications of Crohn disease.

Transmission of Infectious Diseases En Route to Habitat Hotspots

PubMed Central

Benavides, Julio; Walsh, Peter D.; Meyers, Lauren Ancel; Raymond, Michel; Caillaud, Damien

2012-01-01

Background The spread of infectious diseases in wildlife populations is influenced by patterns of between-host contacts. Habitat “hotspots” - places attracting a large numbers of individuals or social groups - can significantly alter contact patterns and, hence, disease propagation. Research on the importance of habitat hotspots in wildlife epidemiology has primarily focused on how inter-individual contacts occurring at the hotspot itself increase disease transmission. However, in territorial animals, epidemiologically important contacts may primarily occur as animals cross through territories of conspecifics en route to habitat hotspots. So far, the phenomenon has received little attention. Here, we investigate the importance of these contacts in the case where infectious individuals keep visiting the hotspots and in the case where these individuals are not able to travel to the hotspot any more. Methodology and Principal Findings We developed a simulation epidemiological model to investigate both cases in a scenario when transmission at the hotspot does not occur. We find that (i) hotspots still exacerbate epidemics, (ii) when infectious individuals do not travel to the hotspot, the most vulnerable individuals are those residing at intermediate distances from the hotspot rather than nearby, and (iii) the epidemiological vulnerability of a population is the highest when the number of hotspots is intermediate. Conclusions and Significance By altering animal movements in their vicinity, habitat hotspots can thus strongly increase the spread of infectious diseases, even when disease transmission does not occur at the hotspot itself. Interestingly, when animals only visit the nearest hotspot, creating additional artificial hotspots, rather than reducing their number, may be an efficient disease control measure. PMID:22363606

B3GALNT2-Related Dystroglycanopathy: Expansion of the Phenotype with Novel Mutation Associated with Muscle-Eye-Brain Disease, Walker-Warburg Syndrome, Epileptic Encephalopathy-West Syndrome, and Sensorineural Hearing Loss.

PubMed

Al Dhaibani, Muna A; El-Hattab, Ayman W; Ismayl, Omar; Suleiman, Jehan

2018-05-23

Mutations in B3GALNT2 , encoding a glycosyltransferase enzyme involved in α-dystroglycan glycosylation, have been recently associated with dystroglycanopathy, a well-recognized subtype of congenital muscular dystrophy (CMD). Only a few cases have been reported with B3GALNT2 -related dystroglycanopathy with variable severity ranging from mild CMD to severe muscle-eye-brain disease. Here, we describe a child with a novel homozygous nonsense mutation in B3GALNT2 . The affected child has severe neurological disease since birth, including muscle disease manifested as hypotonia, muscle weakness, and wasting with elevated creatine kinase, eye disease including microphthalmia and blindness, brain disease with extensive brain malformations including massive hydrocephalus, diffuse cobblestone-lissencephaly, deformed craniocervical junction, and pontocerebellar hypoplasia. The clinical and radiologic findings are compatible with a diagnosis of severe muscle-eye-brain disease and more specifically Walker-Warburg syndrome. A more distinct aspect of the clinical phenotype in this child is the presence of refractory epilepsy in the form of epileptic spasms, epileptic encephalopathy, and West syndrome, as well as sensorineural hearing loss. These findings could expand the phenotype of B3GALNT2 -related dystroglycanopathy. In this report, we also provide a detailed review of previously reported cases with B3GALNT2 -related dystroglycanopathy and compare them to our reported child. In addition, we study the genotype-phenotype correlation in these cases. Georg Thieme Verlag KG Stuttgart · New York.

Autoerotic deaths: four cases.

PubMed

Cooke, C T; Cadden, G A; Margolius, K A

1994-07-01

We describe the circumstances and post mortem medical findings of 4 unusual fatalities where death occurred during autoerotic practice. Three cases occurred in young to middle-aged men--hanging, electrocution and inhalation of a zucchini. The manner of death in each was accidental. The fourth case was an elderly man who died of ischemic heart disease, apparently whilst masturbating with a vacuum cleaner and a hair dryer.

Inverse comorbidity in multiple sclerosis: Findings in a complete nationwide cohort.

PubMed

Thormann, Anja; Koch-Henriksen, Nils; Laursen, Bjarne; Sørensen, Per Soelberg; Magyari, Melinda

2016-11-01

Inverse comorbidity is disease occurring at lower rates than expected among persons with a given index disease. The objective was to identify inverse comorbidity in MS. We performed a combined case-control and cohort study in a total nationwide cohort of cases with clinical onset of MS 1980-2005. We randomly matched each MS-case with five population controls. Comorbidity data were obtained from multiple, independent nationwide registries. Cases and controls were followed from January 1977 to the index date, and from the index date through December 2012. We controlled for false discovery rate and investigated each of eight pre-specified comorbidity categories: psychiatric, cerebrovascular, cardiovascular, lung, and autoimmune comorbidities, diabetes, cancer, and Parkinson's disease. A total of 8947 MS-cases and 44,735 controls were eligible for inclusion. We found no inverse associations with MS before the index date. After the index date, we found a decreased occurrence of chronic lung disease (asthma and chronic obstructive pulmonary disease) (HR 0.80 (95% CI 0.75-0.86, p<0.00025)) and overall cancer (HR 0.88 (95% CI 0.81-0.95, p=0.0005)) among MS-cases. This study showed a decreased risk of cancers and pulmonary diseases after onset of MS. Identification of inverse comorbidity and of its underlying mechanisms may provide important new entry points into the understanding of MS. Copyright © 2016 Elsevier B.V. All rights reserved.

[Chronic vulvar lymphedema revealing Crohn disease in a teenage girl].

PubMed

Aounallah, A; Ghariani Fetoui, N; Ksiaa, M; Boussofara, L; Saidi, W; Mokni, S; Sriha, B; Belajouza, C; Denguezli, M; Ghariani, N; Nouira, R

2017-04-01

Cutaneous Crohn disease is a rare cutaneous manifestation of Crohn disease in children. Herein is reported a case of persistent vulvar lymphedema revealing Crohn disease in a teenage girl. A 14-year-old girl presented with an 8-month history of persistent vulvar swelling associated with chronic macrocheilia. Dermatologic examination showed an inflammatory vulvar lymphedema, associated with perianal fissures and hypertrophic gingivitis. Vulvar skin biopsy revealed non-necrotizing granulomatous inflammation. Gastrointestinal endoscopy yielded no significant findings. The diagnosis of Crohn disease presenting as vulvar lymphedema was established. Oral metronidazole therapy resulted in partial improvement of cutaneous lesions beginning the 1st week. The originality of this case lies in the presentation of chronic macrocheilia with persistent vulvar lymphedema in a child, revealing Crohn disease without gastrointestinal involvement. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

Early bronchopulmonary involvement in Crohn disease: a case report

PubMed Central

Valletta, Enrico; Bertini, Marina; Sette, Luciano; Braggion, Cesare; Pradal, Ugo; Zannoni, Marina

2001-01-01

Background Bronchopulmonary manifestations of Crohn disease have been rarely described in children, including both subclinical pulmonary involvement and severe lung disease. Case presentation A 6.5-year-old girl is described with early recurrent bronchopulmonary symptoms both at presentation and in the quiescent phase of Crohn disease. Pulmonary function tests (lung volumes and flows, bronchial reactivity and carbon monoxide diffusing capacity) were normal. Bronchoalveolar cytology showed increased (30%) lymphocyte counts and bronchial biopsy revealed thickening of basal membrane and active chronic inflammation. Conclusions Clinical and histological findings in our young patient suggest involvement of both distal and central airways in an early phase of lung disease. The pathogenesis of Crohn disease-associated lung disorders is discussed with reference to the available literature. A low threshold for pulmonary evaluation seems to be advisable in all children with CD. PMID:11734067

Oral manifestation in inflammatory bowel disease: A review

PubMed Central

Lankarani, Kamran B; Sivandzadeh, Gholam Reza; Hassanpour, Shima

2013-01-01

Inflammatory bowel diseases (IBDs), including Crohn’s disease (CD) and ulcerative colitis, not only affect the intestinal tract but also have an extraintestinal involvement within the oral cavity. These oral manifestations may assist in the diagnosis and the monitoring of disease activity, whilst ignoring them may lead to an inaccurate diagnosis and useless and expensive workups. Indurated tag-like lesions, cobblestoning, and mucogingivitis are the most common specific oral findings encountered in CD cases. Aphthous stomatitis and pyostomatitis vegetans are among non-specific oral manifestations of IBD. In differential diagnosis, side effects of drugs, infections, nutritional deficiencies, and other inflammatory conditions should also be considered. Treatment usually involves managing the underlying intestinal disease. In severe cases with local symptoms, topical and/or systemic steroids and immunosuppressive drugs might be used. PMID:24379574

Endomyocardial fibrosis and rheumatic heart disease in Mozambique.

PubMed

Bijlsma, F

1979-01-01

The first five cases of endomyocardial fibrosis to be reported from Mozambique are described in an autopsy series over the years 1975-77, together with 85 cases of rheumatic heart disease in patients who died and were autopsied during the same period. Outside the central parts of the African continent, endomyocardial fibrosis does not seem as rare as previously thought. Observations on the age and sex of the patients correspond with what is already known about both diseases. The strikingly higher frequency of rheumatic heart disease discussed in this review is at variance with the findings of SHAPER et al. in Uganda over the years 1950-65 and poses problems as to the hypothesis of a common aetiological process in both diseases, i.e. a hypersensitivity mechanism acting on cardiac connective tissue.

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

PubMed

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.

Automatic detection of erythemato-squamous diseases using k-means clustering.

PubMed

Ubeyli, Elif Derya; Doğdu, Erdoğan

2010-04-01

A new approach based on the implementation of k-means clustering is presented for automated detection of erythemato-squamous diseases. The purpose of clustering techniques is to find a structure for the given data by finding similarities between data according to data characteristics. The studied domain contained records of patients with known diagnosis. The k-means clustering algorithm's task was to classify the data points, in this case the patients with attribute data, to one of the five clusters. The algorithm was used to detect the five erythemato-squamous diseases when 33 features defining five disease indications were used. The purpose is to determine an optimum classification scheme for this problem. The present research demonstrated that the features well represent the erythemato-squamous diseases and the k-means clustering algorithm's task achieved high classification accuracies for only five erythemato-squamous diseases.

Absence of an Orphan Mitochondrial Protein, C19orf12, Causes a Distinct Clinical Subtype of Neurodegeneration with Brain Iron Accumulation

PubMed Central

Hartig, Monika B.; Iuso, Arcangela; Haack, Tobias; Kmiec, Tomasz; Jurkiewicz, Elzbieta; Heim, Katharina; Roeber, Sigrun; Tarabin, Victoria; Dusi, Sabrina; Krajewska-Walasek, Malgorzata; Jozwiak, Sergiusz; Hempel, Maja; Winkelmann, Juliane; Elstner, Matthias; Oexle, Konrad; Klopstock, Thomas; Mueller-Felber, Wolfgang; Gasser, Thomas; Trenkwalder, Claudia; Tiranti, Valeria; Kretzschmar, Hans; Schmitz, Gerd; Strom, Tim M.; Meitinger, Thomas; Prokisch, Holger

2011-01-01

The disease classification neurodegeneration with brain iron accumulation (NBIA) comprises a clinically and genetically heterogeneous group of progressive neurodegenerative disorders characterized by brain iron deposits in the basal ganglia. For about half of the cases, the molecular basis is currently unknown. We used homozygosity mapping followed by candidate gene sequencing to identify a homozygous 11 bp deletion in the orphan gene C19orf12. Mutation screening of 23 ideopathic NBIA index cases revealed two mutated alleles in 18 of them, and one loss-of-function mutation is the most prevalent. We also identified compound heterozygous missense mutations in a case initially diagnosed with Parkinson disease at age 49. Psychiatric signs, optic atrophy, and motor axonal neuropathy were common findings. Compared to the most prevalent NBIA subtype, pantothenate kinase associated neurodegeneration (PKAN), individuals with two C19orf12 mutations were older at age of onset and the disease progressed more slowly. A polyclonal antibody against the predicted membrane spanning protein showed a mitochondrial localization. A histopathological examination in a single autopsy case detected Lewy bodies, tangles, spheroids, and tau pathology. The mitochondrial localization together with the immunohistopathological findings suggests a pathomechanistic overlap with common forms of neurodegenerative disorders. PMID:21981780

Epstein-Barr virus-related lymph node lesion resembling autoimmune disease-like clinicopathological findings in elderly patients. Report of three cases.

PubMed

Kojima, Masaru; Yamane, Yuko; Itoh, Hideaki; Tanaka, Hiroshi; Sugihara, Shiro; Masawa, Nobuhide; Nakamura, Shigeo

2003-12-01

Three cases of Epstein-Barr virus (EBV)-related lymphoproliferative disorders in elderly patients showing autoimmune disease-associated lymphadenopathy-like clinicopathological findings have been reported. Clinically, they were characterized by systemic lymphadenopathy, "B" symptoms, polyclonal hypergammaglobulinemia, elevated serum LDH and transient presence of various autoantibodies, and absence of atypical lymphocytosis in peripheral blood. One case was associated with idiopathic thrombocytopenic purpura. The clinical course was self-limiting. Histologically, they exhibited numerous lymphoid follicles with hyperplastic germinal centers and atypical interfollicular widening with prominent vascular proliferation. In the paracortical area, there was a mixed infiltrate comprising small to medium-sized lymphocytes and plasma cells, and variable numbers of eosinophils and T- and B-immunoblasts. In situ hybridization demonstrated a varying number of EBV-infected lymphocytes in the germinal center as well as in the interfollicular area. Polymerase chain reaction demonstrated that neither clonal rearrangement of T-cell receptor gamma-gene nor immunoglobulin heavy-chain rearrangement was detected in two of the cases examined. Although acute EBV infection rarely occurs in older adults, EBV related to reactive lymphoproliferative disorder should be added to the differential diagnosis of autoimmune disease-associated lymphadenopathy and node-based peripheral T-cell lymphoma in elderly patients.

Antigen tissue distribution of Avian bornavirus (ABV) in psittacine birds with natural spontaneous proventricular dilatation disease and ABV genotype 1 infection.

PubMed

Wünschmann, Arno; Honkavuori, Kirsi; Briese, Thomas; Lipkin, W Ian; Shivers, Jan; Armien, Aníbal G

2011-07-01

Tissues of 10 psittacines from aviary 1 ("case birds") and 5 psittacines from different aviaries were investigated for the presence of Avian bornavirus (ABV) antigen by immunohistochemistry using a polyclonal serum specific for the viral nucleocapsid (N) protein. Seven of 10 case birds had clinical signs, and necropsy findings consistent with proventricular dilatation disease (PDD) while 3 case birds and the 5 birds from other aviaries did not exhibit signs and lesions of this disease. In birds with clinical signs of PDD, ABV antigen was largely limited to neuroectodermal cells including neurons, astroglia, and ependymal cells of the central nervous system, neurons of the peripheral nervous system, and adrenal cells. ABV antigen was present in the nuclei and cytoplasm of infected cells. In 2 case birds that lacked signs and lesions of PDD, viral antigen had a more widespread distribution and was present in nuclei and cytoplasm of epithelial cells of the alimentary and urogenital tract, retina, heart, skeletal muscle, and skin in addition to the mentioned neuroectodermal cells. ABV RNA was identified by reverse transcription polymerase chain reaction (RT-PCR) in tissues of all 7 case birds available for testing from aviary 1, including 4 birds with PDD lesions and the 3 birds without PDD lesions. Sequencing and phylogenetic analysis indicated the presence of ABV genotype 1 in all cases. Findings further substantiate a role of ABV in PDD of psittacine bird species.

Antigen tissue distribution of Avian bornavirus (ABV) in psittacine birds with natural spontaneous proventricular dilatation disease and ABV genotype 1 infection

PubMed Central

Wünschmann, Arno; Honkavuori, Kirsi; Briese, Thomas; Lipkin, W. Ian; Shivers, Jan; Armien, Aníbal G.

2014-01-01

Tissues of 10 psittacines from aviary 1 (“case birds”) and 5 psittacines from different aviaries were investigated for the presence of Avian bornavirus (ABV) antigen by immunohistochemistry using a polyclonal serum specific for the viral nucleocapsid (N) protein. Seven of 10 case birds had clinical signs, and necropsy findings consistent with proventricular dilatation disease (PDD) while 3 case birds and the 5 birds from other aviaries did not exhibit signs and lesions of this disease. In birds with clinical signs of PDD, ABV antigen was largely limited to neuroectodermal cells including neurons, astroglia, and ependymal cells of the central nervous system, neurons of the peripheral nervous system, and adrenal cells. ABV antigen was present in the nuclei and cytoplasm of infected cells. In 2 case birds that lacked signs and lesions of PDD, viral antigen had a more widespread distribution and was present in nuclei and cytoplasm of epithelial cells of the alimentary and urogenital tract, retina, heart, skeletal muscle, and skin in addition to the mentioned neuroectodermal cells. ABV RNA was identified by reverse transcription polymerase chain reaction (RT-PCR) in tissues of all 7 case birds available for testing from aviary 1, including 4 birds with PDD lesions and the 3 birds without PDD lesions. Sequencing and phylogenetic analysis indicated the presence of ABV genotype 1 in all cases. Findings further substantiate a role of ABV in PDD of psittacine bird species. PMID:21908314

A Case of New Familiar Genetic Variant of Autosomal Dominant Polycystic Kidney Disease-2: A Case Study.

PubMed

Litvinchuk, Tetiana; Tao, Yunxia; Singh, Ruchi; Vasylyeva, Tetyana L

2015-01-01

Autosomal dominant polycystic kidney disease (ADPKD) is characterized by renal cyst formation due to mutations in genes coding for polycystin-1 [PKD1 (85-90% of cases), on ch 16p13.3] and polycystin-2 [PKD2 (10-15% of cases), on ch 4q13-23] and PKD3 gene (gene unmapped). It is also associated with TSC2/PKD1 contiguous gene syndrome. ADPKD is usually inherited, but new mutations without a family history occur in approximately 10% of the cases. A 17-year-old boy was followed up for bilateral cystic kidney disease, hypertension, and obesity since he was 13 years old. The diagnosis was an accidental finding during abdominal CT at age 13 to rule out appendicitis. A renal ultrasonogram also demonstrated a multiple bilateral cysts. Because of parental history of bilateral renal cysts, PKD1 and PKD2, genetic testing was ordered. Results showed, PKD2 variant 1:3 bp deletion of TGT; nucleotide position: 1602-1604; codon position: 512-513; mRNA reading frame maintained. The same mutation was later identified in his father. A smaller number of patients have a defect in the PKD2 locus on chromosome 4 (resulting in PKD2 disease). There are no known published cases on this familiar genetic variant of ADPKD-2 cystic kidney disease. In this case, the disease is present unusually early in life.

Lactic acidosis occurrence during exercises in the smoke chamber in a 53-year-old firefighter with no significant medical history.

PubMed

Bronisz, Agata; Spychalska, Magdalena; Szafrańska, Małgorzata

2014-04-01

Lactic acidosis is a form of metabolic acidosis with a high anion gap, reduced rate of arterial blood pH under 7.35 mmol/l, and lactic acid concentration over 7 mmol/l. In the literature we can find some descriptions of the cases of lactic acidosis in patients with severe systemic diseases (cancer, acquired immunodeficiency syndrome, sepsis, diabetes with cardiovascular disease and after organ transplantations). We present the case of lactic acidosis in a patient with no chronic disease--a firefighter in whom lactic acidosis has developed during standard exercises in the smoke chamber.

Incidental Lewy Body Disease: Clinical Comparison to a Control Cohort

PubMed Central

Adler, Charles H.; Connor, Donald J.; Hentz, Joseph G.; Sabbagh, Marwan N.; Caviness, John N.; Shill, Holly A.; Noble, Brie; Beach, Thomas G.

2010-01-01

Limited clinical information has been published on cases pathologically diagnosed with incidental Lewy body disease (ILBD). Standardized, longitudinal movement and cognitive data was collected on a cohort of subjects enrolled in the Sun Health Research Institute Brain and Body Donation Program. Of 277 autopsied subjects who had antemortem clinical evaluations within the previous 3 years, 76 did not have Parkinson’s disease, a related disorder, or dementia of which 15 (20%) had ILBD. Minor extrapyramidal signs were common in subjects with and without ILBD. Cognitive testing revealed an abnormality in the ILBD group in the Trails B test only. ILBD cases had olfactory dysfunction; however, sample size was very small. This preliminary report revealed ILBD cases have movement and cognitive findings that for the most part were not out of proportion to similarly assessed and age-similar cases without Lewy bodies. Larger sample size is needed to have the power to better assess group differences. PMID:20175211

[Based on the incidence of Creutzfeldt-Jakob disease in the Lanzarote healthcare area. Description of two definitive cases].

PubMed

Hernández-Ramos, F J; Martínez Martín, M; Esteban Robayna, M; Jensen Toll, F; Palacios Llopis, S

2005-01-01

We present two cases who have been diagnosed of definitive Creutzfeldt-Jakob disease in the health area of Lanzarote in the period January 2002 to January 2004. The two cases are presented with clinical description, complementary tests -- including electroencephalogram, 14-3-3 protein determination -- study of the prionic protein gene, and histopathologic findings. In this article, we try to show the importance of trying to reach a definitive diagnosis with the histopathologic study once there is clinical suspicion (a diagnosis that is probable or possible). In addition our cases show that communication between the clinical and the epidemiological coordinator of the regional community and the National Center of Epidemiology is very important. We refer to the clear growth in the incidence of the disease in the population of Lanzarote in the period above mentioned. Finally, we discuss whether this growth is or is not an isolated event.

[Fulminant Wilson's disease in Costa Rica. Clinico-pathological study of 7 cases].

PubMed

Herra, S A; Hevia, F J; Vargas, M; Schosinsky, K

1990-01-01

In the last eighteen years, from 1972 to 1989, around 150 cases of Wilson's disease have been diagnosed in Costa Rica (6/100.000 inhabitants). In the San Juan de Dios Hospital, 120 cases have been studied during this period, seven of whom died with a picture of acute hepatic insufficiency, hemolytic anemia, encephalopathy, intestinal bleeding and renal insufficiency. In four of the cases, postmortem histopathologic studies were done with high resolution microscopy, which revealed extensive submassive necrosis of the liver, with severe cholestatic, lytic and acidophilic necrosis with nodular, irregular regeneration and specially microvacuolar steatosis, different from that observed in other forms of fulminant hepatitis. With the clinical, laboratory and histopathologic findings, we concluded that fulminant Wilson's disease is a well-defined pathological clinical entity of fatal evolution with no response to therapy, including early treatment with penicillamine and steroids.

[Histological features of celiac disease in south Tunisia: a study of 114 pediatric cases].

PubMed

Kallel, Rim; Krichen-Makni, Saloua; Ellouze, Sameh; Châari, Chiraz; Charfi, Slim; Sellami, Ahmed; Tahri, Mohamed-Nabil; Hachicha, Mongia; Sellami-Boudawara, Tahya

2009-04-01

To report the histological features of celiac disease in a paediatric population originating from south Tunisia. A retrospective study of a series of duodenal biopsies from 114 children with celiac disease diagnosed over a period of 6 years (from January 1999 to December 2004). The diagnosis was confirmed by histological results, serological studies and clinical response to gluten free diet. The average age of patients was of 6.2 years (range 6 months-15 years). Sex ratio was 0.71. Symptoms were dominated by chronic diarrhea (48%), weight loss (50%) and anemia (20.1%). Histological findings showed an intraepithelial lymphocytosis (Marsh type 1) in 12.2% of cases, type 2 was present in 1.7% of cases and type 3 (villous atrophy) in 86% of cases. A treatment with a gluten-free diet was indicated for all patients, only the cases who haven't presented a clinical amelioration (11 cases) have beneficed a control biopsie; a villous atrophy was persistent in 80% of this patients. Histological features in duodenal biopsies for the diagnosis and the follow-up of patients with coeliac disease. This allows an appropriate treatment and prevents further complications.

Case−Control Study of Risk Factors for Meningococcal Disease in Chile

PubMed Central

Matute, Isabel; González, Claudia; Delgado, Iris; Poffald, Lucy; Pedroni, Elena; Alfaro, Tania; Hirmas, Macarena; Nájera, Manuel; Gormaz, Ana; López, Darío; Loayza, Sergio; Ferreccio, Catterina; Gallegos, Doris; Fuentes, Rodrigo; Vial, Pablo; Aguilera, Ximena

2017-01-01

An outbreak of meningococcal disease with a case-fatality rate of 30% and caused by predominantly serogroup W of Neisseria meningitidis began in Chile in 2012. This outbreak required a case−control study to assess determinants and risk factors for infection. We identified confirmed cases during January 2012−March 2013 and selected controls by random sampling of the population, matched for age and sex, resulting in 135 case-patients and 618 controls. Sociodemographic variables, habits, and previous illnesses were studied. Analyses yielded adjusted odds ratios as estimators of the probability of disease development. Results indicated that conditions of social vulnerability, such as low income and overcrowding, as well as familial history of this disease and clinical histories, especially chronic diseases and hospitalization for respiratory conditions, increased the probability of illness. Findings should contribute to direction of intersectoral public policies toward a highly vulnerable social group to enable them to improve their living conditions and health. PMID:28628448

INCREASED TISSUE TRANSGLUTAMINASE LEVELS ARE ASSOCIATED WITH INCREASED EPILEPTIFORM ACTIVITY IN ELECTROENCEPHALOGRAPHY AMONG PATIENTS WITH CELIAC DISEASE.

PubMed

Işikay, Sedat; Hizli, Şamil; Çoşkun, Serkan; Yilmaz, Kutluhan

2015-12-01

Celiac disease is an autoimmune systemic disorder in genetically predisposed individuals precipitated by gluten ingestion. In this study, we aimed to determine asymptomatic spike-and-wave findings on electroencephalography in children with celiac disease. A total of 175 children with the diagnosis of celiac disease (study group) and 99 age- and sex-matched healthy children as controls (control group) were included in the study. In order to determine the effects of gluten free diet on laboratory and electroencephalography findings, the celiac group is further subdivided into two as newly-diagnosed and formerly-diagnosed patients. Medical histories of all children and laboratory findings were all recorded and neurologic statuses were evaluated. All patients underwent a sleep and awake electroencephalography. Among 175 celiac disease patients included in the study, 43 were newly diagnosed while 132 were formerly-diagnosed patients. In electroencephalography evaluation of patients the epileptiform activity was determined in 4 (9.3%) of newly diagnosed and in 2 (1.5%) of formerly diagnosed patients; on the other hand the epileptiform activity was present in only 1 (1.0%) of control cases. There was a statistically significant difference between groups in regards to the presence of epileptiform activity in electroencephalography. Pearson correlation analysis revealed that epileptiform activity in both sleep and awake electroencephalography were positively correlated with tissue transglutaminase levels (P=0.014 and P=0.019, respectively). We have determined an increased epileptiform activity frequency among newly-diagnosed celiac disease patients compared with formerly-diagnosed celiac disease patients and control cases. Moreover the tissue transglutaminase levels were also correlated with the presence of epileptiform activity in electroencephalography. Among newly diagnosed celiac disease patients, clinicians should be aware of this association and be alert about any neurological symptoms.

Progressive Hemifacial Atrophy and Linear Scleroderma En Coup de Sabre: A Spectrum of the Same Disease?

PubMed

Khamaganova, Irina

2017-01-01

Similar clinical and histhopathological features in progressive hemifacial atrophy and linear scleroderma en coup de sabre are well known. Trauma may predispose to the development of both diseases. The lack of association with anti-Borrelia antibodies was shown in both cases as well. The otolaryngological and endocrine disorders may be associated findings in both diseases. However, there are certain differences in neurological and ophthalmological changes in the diseases.

Progressive Hemifacial Atrophy and Linear Scleroderma En Coup de Sabre: A Spectrum of the Same Disease?

PubMed Central

Khamaganova, Irina

2018-01-01

Similar clinical and histhopathological features in progressive hemifacial atrophy and linear scleroderma en coup de sabre are well known. Trauma may predispose to the development of both diseases. The lack of association with anti-Borrelia antibodies was shown in both cases as well. The otolaryngological and endocrine disorders may be associated findings in both diseases. However, there are certain differences in neurological and ophthalmological changes in the diseases. PMID:29445726

MRI and MR spectroscopy findings of a case of subacute sclerosing panencephalitis affecting the corpus callosum

PubMed Central

Öztürk, Mehmet; Sığırcı, Ahmet; Yakıncı, Cengiz

2015-01-01

Subacute sclerosing panencephalitis (SSPE) is a rare, slowly progressive, fatal, inflammatory and neurodegenerative disease that is seen mostly in children and young adolescents, and primarily affects the parieto-occipital lobes. The corpus callosum, cerebellum and basal ganglia are less frequently involved. MR spectroscopy (MRS) may illustrate the pathophysiological features of SSPE. To the best of our knowledge, this is the second report of MRS findings of corpus callosum involvement in a stage 3 SSPE case. PMID:26163552

[Diagnosis of herpetic uveitis and keratouveitis].

PubMed

Schacher, S; Garweg, J G; Russ, C; Böhnke, M

1998-05-01

In epithelial viral keratitis as in viral retinitis, the diagnosis is made on the basis of typical clinical findings. A laboratory confirmation is achieved in over 80% using routine laboratory methods. In contrast, it is almost impossible to confirm the diagnosis of stromal herpetic keratitis in vivo using the currently available laboratory methods. Nothing is known about the situation in cases of viral anterior uveitis. Of 52 patients with granulomatous anterior uveitis, 31 were diagnosed on the basis of clinical findings as active herpetic uveitis (group 1), 14 as active granulomatous uveitis of unknown origin (group 2), and 7 had inactive disease after quietening down of herpetic uveitis (group 3). From all patients, aqueous humor was collected at the time of diagnosis and processed for viral culture, Herpes antigen ELISA, and amplification of viral DNA of HSV-1 and VZV. Viral growth in culture was found in only one case in group 3. In this group, viral antigen or viral DNA were detected in no case. Herpes antigen was found in 5/31 cases (16%) in group 1 and in 1/11 cases (9%) in group 2, and viral DNA was found in 8/31 cases from group 1 (5x HSV-1 and 3x VZV) and in 5/14 cases (31%) from group 2. After combination of antigen detection and DNA amplification, the presence of virus was confirmed in 14/45 cases (29%). Virus culture has not proven useful in the diagnosis of viral anterior segment disease. Despite their high overall sensitivity, neither antigen ELISA nor the amplification of viral DNA proved sensitive enough to establish a viral etiology. Nevertheless, a laboratory confirmation should be attempted in granulomatous uveitis of unknown origin after preclusion of an underlying systemic disease because of the consequences of a diagnosis of viral anterior segment disease for treatment and prognosis.

Rare copy number variants in patients with congenital conotruncal heart defects.

PubMed

Xie, Hongbo M; Werner, Petra; Stambolian, Dwight; Bailey-Wilson, Joan E; Hakonarson, Hakon; White, Peter S; Taylor, Deanne M; Goldmuntz, Elizabeth

2017-03-01

Previous studies using different cardiac phenotypes, technologies and designs suggest a burden of large, rare or de novo copy number variants (CNVs) in subjects with congenital heart defects. We sought to identify disease-related CNVs, candidate genes, and functional pathways in a large number of cases with conotruncal and related defects that carried no known genetic syndrome. Cases and control samples were divided into two cohorts and genotyped to assess each subject's CNV content. Analyses were performed to ascertain differences in overall CNV prevalence and to identify enrichment of specific genes and functional pathways in conotruncal cases relative to healthy controls. Only findings present in both cohorts are presented. From 973 total conotruncal cases, a burden of rare CNVs was detected in both cohorts. Candidate genes from rare CNVs found in both cohorts were identified based on their association with cardiac development or disease, and/or their reported disruption in published studies. Functional and pathway analyses revealed significant enrichment of terms involved in either heart or early embryonic development. Our study tested one of the largest cohorts specifically with cardiac conotruncal and related defects. These results confirm and extend previous findings that CNVs contribute to disease risk for congenital heart defects in general and conotruncal defects in particular. As disease heterogeneity renders identification of single recurrent genes or loci difficult, functional pathway and gene regulation network analyses appear to be more informative. Birth Defects Research 109:271-295, 2017. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

Chronic kidney disease of nontraditional etiology in Central America: a provisional epidemiologic case definition for surveillance and epidemiologic studies.

PubMed

Lozier, Matthew; Turcios-Ruiz, Reina Maria; Noonan, Gary; Ordunez, Pedro

2016-11-01

SYNOPSIS Over the last two decades, experts have reported a rising number of deaths caused by chronic kidney disease (CKD) along the Pacific coast of Central America, from southern Mexico to Costa Rica. However, this specific disease is not associated with traditional causes of CKD, such as aging, diabetes, or hypertension. Rather, this disease is a chronic interstitial nephritis termed chronic kidney disease of nontraditional etiology (CKDnT). According to the Pan American Health Organization (PAHO) mortality database, there are elevated rates of deaths related to kidney disease in many of these countries, with the highest rates being reported in El Salvador and Nicaragua. This condition has been identified in certain agricultural communities, predominantly among male farmworkers. Since CKD surveillance systems in Central America are under development or nonexistent, experts and governmental bodies have recommended creating standardized case definitions for surveillance purposes to monitor and characterize this epidemiological situation. A group of experts from Central American ministries of health, the U.S. Centers for Disease Control and Prevention (CDC), and PAHO held a workshop in Guatemala to discuss CKDnT epidemiologic case definitions. In this paper, we propose that CKD in general be identified by the standard definition internationally accepted and that a suspect case of CKDnT be defined as a person age < 60 years with CKD, without type 1 diabetes mellitus, hypertensive diseases, and other well-known causes of CKD. A probable case of CKDnT is defined as a suspect case with the same findings confirmed three or more months later.

Disseminated cat-scratch disease: case report and review of the literature.

PubMed

Chang, Chih-Chen; Lee, Chia-Jie; Ou, Liang-Shiou; Wang, Chao-Jan; Huang, Yhu-Chering

2016-08-01

Cat scratch disease (CSD) can present as a systemic disease in 5-10% of cases and lead to various disease entities. A previously healthy 16-month-old boy presented with fever for 7 days without other obvious symptoms. Abdominal computed tomography scan demonstrated enlarged right inguinal lymph nodes and multiple small round hypodensities in the spleen. Despite antibiotic treatment for 1 week, the fever persisted and the intrasplenic lesions progressed. Inguinal lymph node biopsy confirmed CSD by immunohistochemistry staining. The diagnosis of CSD was also supported by a history of contact, imaging and serological findings. The patient recovered after treatment with azithromycin for a total of 5 weeks and, in serial follow-up, the hepatosplenic micro-abscesses resolved after 4th months.

Disseminated cat-scratch disease: case report and review of the literature.

PubMed

Chang, Chih-Chen; Lee, Chia-Jie; Ou, Liang-Shiou; Wang, Chao-Jan; Huang, Yhu-Chering

2016-01-12

Cat scratch disease (CSD) can present as a systemic disease in 5-10% of cases and lead to various disease entities. A previously healthy 16-month-old boy presented with fever for 7 days without other obvious symptoms. Abdominal computed tomography scan demonstrated enlarged right inguinal lymph nodes and multiple small round hypodensities in the spleen. Despite antibiotic treatment for 1 week, the fever persisted and the intrasplenic lesions progressed. Inguinal lymph node biopsy confirmed CSD by immunohistochemistry staining. The diagnosis of CSD was also supported by a history of contact, imaging and serological findings. The patient recovered after treatment with azithromycin for a total of 5 weeks and, in serial follow-up, the hepatosplenic micro-abscesses resolved after 4th months.

Disease management: a leap of faith to lower-cost, higher-quality health care.

PubMed

Short, Ashley; Mays, Glen; Mittler, Jessica

2003-10-01

With managed care's promise to reduce costs and improve quality waning, employers and health plans are exploring more targeted ways to control rapidly rising health costs. Disease management programs, which focus on patients with chronic conditions such as asthma and diabetes, are growing in popularity, according to findings from the Center for Studying Health System Change's (HSC) 2002-03 site visits to 12 nationally representative communities. In addition to condition-based disease management programs, some health plans and employers are using intensive case management services to coordinate care for high-risk patients with potentially costly and complex medical conditions. Despite high expectations, evidence of both disease management and case management programs' success in controlling costs and improving quality remains limited.

Estimation of hypertension risk from lifestyle factors and health profile: a case study.

PubMed

Zheng, Zhuoyuan; Li, Ye; Cai, Yunpeng

2014-01-01

Hypertension is a highly prevalent risk factor for cardiovascular disease and it can also lead to other diseases which seriously harm the human health. Screening the risks and finding a clinical model for estimating the risk of onset, maintenance, or the prognosis of hypertension are of great importance to the prevention or treatment of the disease, especially if the indicator can be derived from simple health profile. In this study, we investigate a chronic disease questionnaire data set of 6563 rural citizens in East China and find out a clinical signature that can assess the risk of hypertension easily and accurately. The signature achieves an accuracy of about 83% on the external test dataset, with an AUC of 0.91. Our study demonstrates that a combination of simple lifestyle features can sufficiently reflect the risk of hypertension onset. This finding provides potential guidance for disease prevention and control as well as development of home care and home-care technologies.

Neurologic features of chronic Minamata disease (organic mercury poisoning) certified at autopsy.

PubMed

Uchino, M; Okajima, T; Eto, K; Kumamoto, T; Mishima, I; Ando, M

1995-08-01

To better understand the neurologic events related to chronic Minamata disease (organic mercury poisoning), we studied data from 77 patients with Minamata disease as certified at autopsies performed from 1976 to 1994 (mean age: 72.3 years). Major neurologic findings included: sensory impairment in 80.5% of the patients which was limited to the extremities in 42.9%. Impairment of lower extremity coordination was present in 35.8% of the patients, constriction of the visual fields in 28.8%, and retrocochlear hearing loss in 15.3%. There was no correlation between the degree of cerebellar incoordination and the methylmercury concentration in the cerebellum. Compared with the classic type of Minamata disease, the incidence of major neurologic findings was markedly decreased. In light of these findings, supplemental examinations including brain computed tomography (CT), magnetic resonance imaging (MRI), short latency somatosensory evoked potential (SSEP), or tremogram may be necessary to clinically diagnose Minamata disease, especially in atypical or mild cases.

Estimation of Hypertension Risk from Lifestyle Factors and Health Profile: A Case Study

PubMed Central

2014-01-01

Hypertension is a highly prevalent risk factor for cardiovascular disease and it can also lead to other diseases which seriously harm the human health. Screening the risks and finding a clinical model for estimating the risk of onset, maintenance, or the prognosis of hypertension are of great importance to the prevention or treatment of the disease, especially if the indicator can be derived from simple health profile. In this study, we investigate a chronic disease questionnaire data set of 6563 rural citizens in East China and find out a clinical signature that can assess the risk of hypertension easily and accurately. The signature achieves an accuracy of about 83% on the external test dataset, with an AUC of 0.91. Our study demonstrates that a combination of simple lifestyle features can sufficiently reflect the risk of hypertension onset. This finding provides potential guidance for disease prevention and control as well as development of home care and home-care technologies. PMID:25019099

Association of Glucocerebrosidase Mutations With Dementia With Lewy Bodies

PubMed Central

Clark, Lorraine N.; Kartsaklis, Lykourgos A.; Wolf Gilbert, Rebecca; Dorado, Beatriz; Ross, Barbara M.; Kisselev, Sergey; Verbitsky, Miguel; Mejia-Santana, Helen; Cote, Lucien J.; Andrews, Howard; Vonsattel, Jean-Paul; Fahn, Stanley; Mayeux, Richard; Honig, Lawrence S.; Marder, Karen

2009-01-01

Background Mutations in the glucocerebrosidase (GBA) gene are associated with Lewy body (LB) disorders. Objective To determine the relationship of GBA mutations and APOE4 genotype to LB and Alzheimer disease (AD) pathological findings. Design Case-control study. Setting Academic research. Participants The 187 subjects included patients with primary neuropathological diagnoses of LB disorders with or without AD changes (95 cases), randomly selected patients with AD (without significant LB pathological findings; 60 cases), and controls with neither LB nor AD pathological findings (32 cases). Main Outcome Measures GBA mutation status, APOE4 genotype, LB pathological findings (assessed according to the third report of the Dementia With Lewy Body Consortium), and Alzheimer plaque and tangle pathological findings (rated by criteria of Braak and Braak, the Consortium to Establish a Registry for Alzheimer Disease, and the National Institute on Aging–Reagan Institute). Results GBA mutations were found in 18% (34 of 187) of all subjects, including 28% (27 of 95) of those with primary LB pathological findings compared with 10% (6 of 60) of those with AD pathological findings and 3% (1 of 32) of those without AD or LB pathological findings (P=.001). GBA mutation status was significantly associated with the presence of cortical LBs (odds ratio, 6.48; 95% confidence interval, 2.45–17.16; P<.001), after adjusting for sex, age at death, and presence of APOE4. GBA mutation carriers were significantly less likely to meet AD pathological diagnostic (National Institute on Aging–Reagan Institute intermediate or high likelihood) criteria (odds ratio, 0.35; 95% confidence interval, 0.15–0.79; P=.01) after adjustment for sex, age at death, and APOE4. Conclusion GBA mutations may be associated with pathologically “purer” LB disorders, characterized by more extensive (cortical) LB, and less severe AD pathological findings and may be a useful marker for LB disorders. PMID:19433657

Pyle metaphyseal dysplasia in an African child: Case report and review of the literature.

PubMed

Wonkam, A; Makubalo, N; Roberts, T; Chetty, M

2016-05-25

Pyle disease (OMIM 265900), also known as metaphyseal dysplasia, is a rare autosomal recessive disorder with no known gene mutation. We report a case of Pyle disease in a 7-year-old African boy of mixed ancestry who presented with finger and wrist fractures following minor trauma. The radiological findings revealed abnormally broad metaphyses of the tubular bones, known as Erlenmeyer-flask bone deformity, and mild cranial sclerosis, both hallmarks of the condition. We report the first case in a patient with African ancestry, which could help in the gene discovery of this rare autosomal recessive skeletal dysplasia with unknown mutations.

Respiratory bronchiolitis-associated interstitial lung disease secondary to electronic nicotine delivery system use confirmed with open lung biopsy.

PubMed

Flower, Mark; Nandakumar, Lakshmy; Singh, Mahendra; Wyld, David; Windsor, Morgan; Fielding, David

2017-05-01

As a modern phenomenon, there is currently limited understanding of the possible toxic effects and broader implications of electronic nicotine delivery systems (ENDS). Large volumes of aerosolized particles are inhaled during "vaping" and there are now an increasing number of case reports demonstrating toxic effects of ENDS, as well as human studies demonstrating impaired lung function in users. This article presents a case of respiratory bronchiolitis interstitial lung disease (RB-ILD) precipitated by vaping in a 33-year-old male with 10 pack years of traditional cigarette and prior treatment for mixed germ cell tumour. The patient had started vaping 10-15 times per day while continuing to smoke 10 traditional cigarettes per day. After 3 months of exposure to e-cigarette vapour, chest computed tomography demonstrated multiple new poorly defined pulmonary nodules with fluffy parenchyma opacification centred along the terminal bronchovascular units. Video-assisted thoracoscopy with lung biopsy of the right upper and right middle lobes was undertaken. The microscopic findings were overall consistent with RB-ILD. This case demonstrates toxicity with use of ENDS on open lung biopsy with resolution of radiographic findings on cessation. We believe that this is the first case where open lung biopsy has demonstrated this and our findings are consistent with RB-ILD.

Carp edema virus/Koi sleepy disease: an emerging disease in Central-East Europe.

PubMed

Lewisch, E; Gorgoglione, B; Way, K; El-Matbouli, M

2015-02-01

Koi sleepy disease (KSD), also known as carp edema virus (CEV), was first reported from juvenile colour carp in Japan in the 1970s. Recently, this pox virus was detected in several European countries, including Germany, France and the Netherlands. In England, in addition to colour carp, outbreaks in common carp are reported. KSD/CEV is an emerging infectious disease characterized by a typical sleepy behaviour, enophthalmia, generalized oedematous condition and gill necrosis, leading to hypoxia. High mortality, of up to 80-100%, is seen in juvenile koi collected from infected ponds. In Austria, this disease had not been detected until now. In spring 2014, diagnostic work revealed the disease in two unrelated cases. In one instance, a pond with adult koi was affected; in the other, the disease was diagnosed in adult common carp recently imported from the Czech Republic. A survey was carried out on recent cases (2013/2014), chosen from those with similar anamnestic and physical examination findings, revealing a total of 5/22 cases positive for KSD/CEV. In this study, two paradigmatic cases are presented in detail. Results together with molecular evidence shaped the pattern of the first diagnosis of KSD/CEV in fish from Austrian ponds. In the light of the positive cases detected from archived material, and the spread of the disease through live stock, imported from a neighbouring country, the need for epidemiological investigations in Austria and surrounding countries is emphasized. © 2014 Blackwell Verlag GmbH.

Trichotillomania in a dementia case

PubMed Central

Caixeta, Leonardo; Lopes, Danielly Bandeira

2011-01-01

We report an 87-year-old male case of hair pulling associated with a white-matter vascular dementia (Binswanger’s disease). Trichotillomania in our case did not resolve using mirtazapine or anticholinesterasic medication. Trichotillomania seems to be related to a form of perseveration associated with dementia. The findings in this case suggest the abnormality involving white matter in the pathogenesis of trichotillomania, may constitute a defect in connectivity in the right frontal-subcortical circuit. PMID:29213722

Prostate carcinoma mimicking a sphenoid wing meningioma.

PubMed

Bradley, Lucas H; Burton, Matthew; Gokden, Murat; Serletis, Demitre

2015-01-01

We report here on a rare case of a large, lateral sphenoid wing tumor with radiographic and intraoperative findings highly suggestive of meningioma, yet pathology was in fact consistent with metastatic prostate adenocarcinoma. An 81 year-old male presented with expressive dysphasia, right-sided weakness and headaches. Imaging revealed a heterogeneously-enhancing lesion based on the left lateral sphenoid wing. The presumed diagnosis was strongly in favor of meningioma, and the patient underwent complete resection of the dural-based lesion. Final pathology confirmed the unexpected finding of a metastatic prostate adenocarcinoma. Although he tolerated surgery well, the patient was subsequently referred for palliative therapy given findings of widespread systemic disease. Intracranial metastases may involve the dura, at times presenting with rare radiographic features highly suggestive for meningioma, as in our case here. This makes differentiation, at least based on imaging, a challenge. Elderly patients presenting with neurological deficits secondary to a newly-diagnosed, dural-based lesion should thus be considered for metastasis, prompting additional imaging studies (including body CT, MRI or PET) to rule out a primary lesion elsewhere. In some cases, this may affect the overall decision to proceed with surgical resection, or alternatively, to proceed directly to palliative therapy (the latter decision made in the context of widespread metastatic disease). We conclude that dural-based metastatic lesions may mimic meningiomas, warranting thorough pre-operative work-up to exclude the possibility of metastasis. In certain cases, identification of widespread disease might preclude surgery and favor palliation, instead. Copyright © 2015 The Authors. Published by Elsevier Ltd.. All rights reserved.

Histological varieties of Epstein-Barr virus-related lymph node lesion resembling autoimmune disease-like clinicopathological findings in middle-aged and elderly patients: a study of six cases.

PubMed

Kojima, Masaru; Sugiura, Isamu; Itoh, Hideaki; Shimizu, Kazuhiko; Murayama, Kayoko; Motoori, Tadashi; Shimano, Shunichi; Masawa, Nobuhide; Nakamura, Shigeo

2006-01-01

Six cases were studied to further clarify clinicopathological findings of Epstein-Barr virus (EBV)-related lymph node lesions showing autoimmune disease-like clinicopathological findings (EBVAID) in middle-aged and elderly patients. The patients, four males and two females, ranged in age from 53 to 74 years, with a median age of 62 years. Clinically, they were characterized by systemic lymphadenopathy, "B"symptoms, polyclonal hypergammaglobulinemia, elevated serum lactate dehydrogenase and a transient presence of various autoantibodies, as well as an infrequent presence of atypical lymphocytosis in peripheral blood. Two cases were associated with idiopathic thrombocytopenic purpura. The clinical course was self-limiting. Histologically, three patterns could be delineated: pattern A, follicular hyperplasia with pronounced arborizing vasculature in the expanded paracortex (n=3); pattern B, follicular hyperplasia with pronounced interfollicular B-immunoblastic/plasma cell proliferation (n=2); and pattern C, paracortical hyperplasia containing numerous large transformed lymphocytes (n=1). In situ hybridization demonstrated a varying number of EBV-infected lymphocytes in the germinal center and in the interfollicular area. Polymerase chain reaction analysis demonstrated that neither clonal rearrangement of T-cell receptor gamma-chain nor immunoglobulin heavy-chain rearrangement was detected in the three cases examined. Although EBVAID appears to be rare in middle-aged and older adults, EBVAID exhibits histological variations and should be added to the differential diagnosis of various atypical or malignant lymphoproliferative disorders, in particular autoimmune-disease-associated lymphadenopathy and angioimmunoblastic T-cell lymphoma with a hyperplastic germinal center in middle-aged and elderly patients.

Poverty reduction and equity benefits of introducing or scaling up measles, rotavirus and pneumococcal vaccines in low-income and middle-income countries: a modelling study.

PubMed

Riumallo-Herl, Carlos; Chang, Angela Y; Clark, Samantha; Constenla, Dagna; Clark, Andrew; Brenzel, Logan; Verguet, Stéphane

2018-01-01

Beyond their impact on health, vaccines can lead to large economic benefits. While most economic evaluations of vaccines have focused on the health impact of vaccines at a national scale, it is critical to understand how their impact is distributed along population subgroups. We build a financial risk protection model to evaluate the impact of immunisation against measles, severe pneumococcal disease and severe rotavirus for birth cohorts vaccinated over 2016-2030 for three scenarios in 41 Gavi-eligible countries: no immunisation, current immunisation coverage forecasts and the current immunisation coverage enhanced with funding support. We distribute modelled disease cases per socioeconomic group and derive the number of cases of: (1) catastrophic health costs (CHCs) and (2) medical impoverishment. In the absence of any vaccine coverage, the number of CHC cases attributable to measles, severe pneumococcal disease and severe rotavirus would be approximately 18.9 million, 6.6 million and 2.2 million, respectively. Expanding vaccine coverage would reduce this number by up to 90%, 30% and 40% in each case. More importantly, we find a higher share of CHC incidence among the poorest quintiles who consequently benefit more from vaccine expansion. Our findings contribute to the understanding of how vaccines can have a broad economic impact. In particular, we find that immunisation programmes can reduce the proportion of households facing catastrophic payments from out-of-pocket health expenses, mainly in lower socioeconomic groups. Thus, vaccines could have an important role in poverty reduction.

Eosinophilic esophagitis-endoscopic distinguishing findings.

PubMed

Caetano, Ana Célia; Gonçalves, Raquel; Rolanda, Carla

2012-08-21

Eosinophilic esophagitis (EE) is the most frequent condition found in a group of gastrointestinal disorders called eosinophilic gastrointestinal diseases. The hypothetical pathophysiological mechanism is related to a hypersensitivity reaction. Gastroesophageal reflux disease-like complaints not ameliorated by acid blockade or occasional symptoms of dysphagia or food impaction are likely presentations of EE. Due to its unclear pathogenesis and unspecific symptoms, it is difficult to diagnose EE without a strong suspicion. Although histological criteria are necessary to diagnosis EE, there are some characteristic endoscopic features. We present the case of a healthy 55-year-old woman with dysphagia and several episodes of esophageal food impaction over the last six months. This case report stresses the most distinguishing endoscopic findings-mucosa rings, white exudative plaques and linear furrows-that can help in the prompt recognition of this condition.

Anetoderma due to secondary syphilis: Report of two cases and discussion of the histopathological findings.

PubMed

Veasey, John V; Lellis, Rute F; Porto, Renê L; Mattei, Gladys Ma

2017-12-01

Anetoderma is a rare benign condition of diverse etiology whose characteristic is the diminution or absence of the dermal elastic fibers. Classified as primary and secondary, the latter associated with tumors, inflammatory, and infectious diseases. Although the etiology of the lesions is well described in literature, the pathogenesis is still poorly determined. Anetoderma in syphilis is rare, and occurs even in the most uncommon cutaneous manifestations of the disease, such as the nodular form. In order to better understand the changes that lead to elastolysis, we propose a better correlation with the histopathological findings of the lesions that precede it. We present two cases of anetoderma secondary to syphilis, whose clinical aspects resembled the pattern of their initial secondary syphilis rash.

Imaging findings of anaplastic astrocytoma in a child with maple syrup urine disease: a case report.

PubMed

Aw-Zoretic, Jessie; Wadhwani, Nitin R; Lulla, Rishi R; Rishi, Lulla R; Ryan, Maura E

2015-09-01

Maple syrup urine disease (MSUD) is an inborn error of branched-chain amino acid metabolism, which usually presents in childhood with encephalopathy due to cerebral edema and dysmyelination. Even with treatment, metabolic stressors may precipitate later episodes of acute decompensation. Changes related to cerebral and white matter edema have been described by magnetic resonance imaging (MRI), and imaging can aid in both initial diagnosis and evaluation of decompensation. To date, there are no published known reports of cancer in patients with MSUD. Here, we present the first case report of an anaplastic astrocytoma in a teenager with MSUD, with a discussion of imaging findings and the use of magnetic resonance spectroscopy (MRS) to help distinguish between tumor and metabolic changes.

Utility of Neurodiagnostic Studies in the Diagnosis of Autoimmune Encephalitis in Children.

PubMed

Albert, Dara V; Pluto, Charles P; Weber, Amanda; Vidaurre, Jorge; Barbar-Smiley, Fatima; Abdul Aziz, Rabheh; Driest, Kyla; Bout-Tabaku, Sharon; Ruess, Lynne; Rusin, Jerome A; Morgan-Followell, Bethanie

2016-02-01

Autoimmune encephalitis is currently a clinical diagnosis without widely accepted diagnostic criteria, often leading to a delay in diagnosis. The utility of magnetic resonance imaging (MRI) and electroencephalography (EEG) in this disease is unknown. The objective of this study was to identify disease-specific patterns of neurodiagnostic studies (MRI and EEG) for autoimmune encephalitis in children. We completed a retrospective chart review of encephalopathic patients seen at a large pediatric hospital over a four year interval. Clinical presentation, autoantibody status, and MRI and EEG findings were identified and compared. Individuals with autoantibodies were considered "definite" cases, whereas those without antibodies or those with only thyroperoxidase antibodies were characterized as "suspected." Eighteen patients met the inclusion criteria and autoantibodies were identified in nine of these. The patients with definite autoimmune encephalitis had MRI abnormalities within limbic structures, most notably the anteromedial temporal lobes (56%). Only individuals with suspected disease had nontemporal lobe cortical lesions. Sixteen patients had an EEG and 13 (81%) of these were abnormal. The most common findings were abnormal background rhythm (63%), generalized slowing (50%), focal slowing (43%), and focal epileptiform discharges (31%). Sleep spindle abnormalities occurred in 38% of patients. There were no specific differences in the EEG findings between the definite and suspected cases. Focal EEG findings only correlated with a focal lesion on MRI in a single definite case. Pediatric patients with definite autoimmune encephalitis have a narrow spectrum of MRI abnormalities. Conversely, EEG abnormalities are mostly nonspecific. All patients in our cohort had abnormalities on one or both of these neurodiagnostic studies. Copyright © 2016 Elsevier Inc. All rights reserved.

Gene genealogies for genetic association mapping, with application to Crohn's disease

PubMed Central

Burkett, Kelly M.; Greenwood, Celia M. T.; McNeney, Brad; Graham, Jinko

2013-01-01

A gene genealogy describes relationships among haplotypes sampled from a population. Knowledge of the gene genealogy for a set of haplotypes is useful for estimation of population genetic parameters and it also has potential application in finding disease-predisposing genetic variants. As the true gene genealogy is unknown, Markov chain Monte Carlo (MCMC) approaches have been used to sample genealogies conditional on data at multiple genetic markers. We previously implemented an MCMC algorithm to sample from an approximation to the distribution of the gene genealogy conditional on haplotype data. Our approach samples ancestral trees, recombination and mutation rates at a genomic focal point. In this work, we describe how our sampler can be used to find disease-predisposing genetic variants in samples of cases and controls. We use a tree-based association statistic that quantifies the degree to which case haplotypes are more closely related to each other around the focal point than control haplotypes, without relying on a disease model. As the ancestral tree is a latent variable, so is the tree-based association statistic. We show how the sampler can be used to estimate the posterior distribution of the latent test statistic and corresponding latent p-values, which together comprise a fuzzy p-value. We illustrate the approach on a publicly-available dataset from a study of Crohn's disease that consists of genotypes at multiple SNP markers in a small genomic region. We estimate the posterior distribution of the tree-based association statistic and the recombination rate at multiple focal points in the region. Reassuringly, the posterior mean recombination rates estimated at the different focal points are consistent with previously published estimates. The tree-based association approach finds multiple sub-regions where the case haplotypes are more genetically related than the control haplotypes, and that there may be one or multiple disease-predisposing loci. PMID:24348515

A patient with asymptomatic severe acute respiratory syndrome (SARS) and antigenemia from the 2003-2004 community outbreak of SARS in Guangzhou, China.

PubMed

Che, Xiao-yan; Di, Biao; Zhao, Guo-ping; Wang, Ya-di; Qiu, Li-wen; Hao, Wei; Wang, Ming; Qin, Peng-zhe; Liu, Yu-fei; Chan, Kwok-hong; Cheng, Vincent C C; Yuen, Kwok-yung

2006-07-01

An asymptomatic case of severe acute respiratory syndrome (SARS) occurred early in 2004, during a community outbreak of SARS in Guangzhou, China. This was the first time that a case of asymptomatic SARS was noted in an individual with antigenemia and seroconversion. The asymptomatic case patient and the second index case patient with SARS in the 2003-2004 outbreak both worked in the same restaurant, where they served palm civets, which were found to carry SARS-associated coronaviruses. Epidemiological information and laboratory findings suggested that the findings for the patient with asymptomatic infection, together with the findings from previously reported serological analyses of handlers of wild animals and the 4 index case patients from the 2004 community outbreak, reflected a likely intermediate phase of animal-to-human transmission of infection, rather than a case of human-to-human transmission. This intermediate phase may be a critical stage for virus evolution and disease prevention.

Frequency of Alzheimer's Disease Pathology at Autopsy in Patients with Clinical Normal Pressure Hydrocephalus

PubMed Central

Cabral, Danielle; Beach, Thomas G; Vedders, Linda; Sue, Lucia I; Jacobson, Sandra; Myers, Kent; Sabbagh, Marwan N

2011-01-01

Background Normal pressure hydrocephalus (NPH) is considered potentially treatable with the placement of a cerebrospinal fluid (CSF) shunt. Yet, the procedure has had variable success, particularly with respect to improving the cognitive impairment in NPH. The presence of neurologic co-morbidities, particularly Alzheimer's Disease (AD), may contribute to shunt responsiveness. Uncovering the extent to which AD and NPH co-occur has implications for diagnosis and treatment of NPH. Autopsy studies of patients with NPH during life would elucidate the frequency of such co-morbidities. Methods We conducted a search of the Sun Health Research Institute Brain Donation Program database between 1/1/1997 and 4/1/09 to identify all cases with neuropathologic evidence of dementia as well as those cases of clinically diagnosed NPH. We reviewed the medical records and brain findings of each NPH case. Results Of the 761 cases autopsied over the study interval, 563 cases were found to have neuropathological evidence meeting criteria for a dementing illness. AD was found exclusively in 313/563 (56%) cases with 94/563 cases having a secondary diagnosis of dementia. We identified 9/761 cases with a clinical diagnosis of NPH, all nine cases were among the 563 cases with neuropathology of dementing illness at autopsy, representing 1.6% (9/563). Upon review of brain autopsy reports, 8/9 (89%) cases were found to have AD and 1/9 (11%) had progressive supranuclear palsy. Review of the medical records of the nine NPH cases revealed the following clinical co-morbidities: 5/9 with AD; 1/9 with Parkinson's Disease (PD); 1/9 with Mild Cognitive Impairment (MCI); 1/9 with seizure disorder. Conclusions Given the findings of our study, we support the AD-NPH theory and posit that AD is a common pathological co-morbidity in the setting of NPH and may preclude cognitive improvement post-shunt placement. This may have influence on selection of cases for shunting in the future. PMID:21723206

Classification of Rhinoentomophthoromycosis into Atypical, Early, Intermediate, and Late Disease: A Proposal

PubMed Central

Blumentrath, Christian G.; Grobusch, Martin P.; Matsiégui, Pierre-Blaise; Pahlke, Friedrich; Zoleko-Manego, Rella; Nzenze-Aféne, Solange; Mabicka, Barthélemy; Sanguinetti, Maurizio; Kremsner, Peter G.; Schaumburg, Frieder

2015-01-01

Background Rhinoentomophthoromycosis, or rhino-facial conidiobolomycosis, is a rare, grossly disfiguring disease due to an infection with entomophthoralean fungi. We report a case of rhinoentomophthoromycosis from Gabon and suggest a staging system, which provides information on the prognosis and duration of antifungal therapy. Methods We present a case of rhinoentomophthoromycosis including the histopathology, mycology, and course of disease. For the suggested staging system, all cases on confirmed rhinoentomophthoromycosis published in the literature without language restriction were eligible. Exclusion criteria were missing data on (i) duration of disease before correct diagnosis, (ii) outcome, and (iii) confirmation of entomophthoralean fungus infection by histopathology and/or mycology. We classified cases into atypical (orbital cellulitis, severe pain, fever, dissemination), early, intermediate, and late disease based on the duration of symptoms before diagnosis. The outcome was evaluated for each stage of disease. Findings The literature search of the Medpilot database was conducted on January 13, 2014, (updated on January 18, 2015). The search yielded 8,333 results including 198 cases from 117 papers; of these, 145 met our inclusion criteria and were included in the final analysis. Median duration of treatment was 4, 3, 4, and 5 months in atypical, early, intermediate, and late disease, respectively. Cure rates were clearly associated with stage of disease and were 57%, 100%, 82%, and 43% in atypical, early, intermediate, and late disease, respectively. Conclusion We suggest a clinical staging system that underlines the benefit of early case detection and may guide the duration of antifungal treatment. The scientific value of this classification is its capacity to structure and harmonize the clinical and research approach towards rhinoentomophthoromycosis. PMID:26426120

Ulcerative colitis followed by the development of typical intestinal Behçet disease: A case report.

PubMed

Zhu, Zhenhua; Shu, Xu; Long, Shunhua; Jiang, Xiaozhen; Lu, Nonghua; Zhu, Xuan; Liao, Wangdi

2018-02-01

Intestinal Behçet disease (intestinal BD) and inflammatory bowel disease (IBD) share a lot of characteristics, including genetic background, clinical manifestations, and therapeutic strategies, especially the extraintestinal manifestations, such as oral ulcers, arthralgia, eye lesions, skin lesions, etc, but the coexistence of these 2 diseases are uncommon. Behçet disease with gastrointestinal involvement in ulcerative colitis (UC) patient has been reported in just 1 previous case report, but, which can not be diagnosed as definite intestinal BD based on Korean novel diagnositic criteria due to lacking the typical ileocecal ulcer. We present a 23-year-old woman with ulcerative disease who developed typical intestinal BD, which is the first case report of patient with coexisting UC and typical intestinal BD. This patient was diagnosed as coexistence of intestinal BD and UC base on the clinical manifestations, extra intestinal manifestations and typical colonoscopic findings. Steroid and methotrexate were administered. This patient achieved clinical remission and mucosal healing. Coexistence of intestinal BD and UC is uncommon, and the combination with steroid, methotrexate, and 5-aminosalicylic acids is an effective therapy.

Clinical and Prognostic Importance of Serotyping Mycobacterium avium-Mycobacterium intracellulare Complex Isolates in Human Immunodeficiency Virus-Negative Patients

PubMed Central

Maekura, Ryoji; Okuda, Yoshinari; Hirotani, Atsusi; Kitada, Seigo; Hiraga, Touru; Yoshimura, Kenji; Yano, Ikuya; Kobayashi, Kazuo; Ito, Masami

2005-01-01

We studied whether the serotypes of Mycobacterium avium-Mycobacterium intracellulare complex (MAC) isolates determine the prognosis for pulmonary MAC disease. We prospectively monitored a cohort of 68 patients with pulmonary MAC disease for whom the serotype-specific glycopeptidolipids in isolates were identified using thin-layer chromatography and fast atom bombardment mass-spectrometry in 1990 and 1995. Serovar 4 Mycobacterium avium was detected in 40/68 patients (58.8%). Other serotypes were serotypes 1 (five cases), 6 (three cases), 8 (seven cases), 9 (three cases), 14 (four cases), and 16 (six cases). Patients with serovar 4 were significantly (P < 0.01) younger (63.0 ± 9.8 years) than patients with other serotypes (71.8 ± 10.3). Patients who failed treatment had a significantly poorer prognosis than other patients. There were no cases of MAC-related death in the cured group. Chest radiographic findings progressively worsened in 36 (90%) of patients with serotype 4, and 14/36 died from respiratory failure caused by pulmonary Mycobacterium avium disease. The patients with serotype 4 had a significantly poorer prognosis than patients with other serotypes. These results show that both the outcome of chemotherapy and the serotypes of MAC isolates are important for assessing the prognosis of pulmonary MAC disease. PMID:16000428

Dry Eye Disease Incidence Associated with Chronic Graft-Host Disease: Nonconcurrent Cohort Study (An American Ophthalmological Society Thesis)

PubMed Central

Mian, Shahzad I.; De la Parra-Colín, Paola; De Melo-Franco, Rafael; Johnson, Christopher; Barrientos-Gutierrez, Tonatiuh

2015-01-01

Purpose: To determine if chronic graft-versus-host disease (cGVHD) after allogeneic hematopoietic stem cell transplantation (HSCT) is associated with stable or progressive dry eye disease and to determine the true incidence in patients with no prior history of dry eye disease. Methods: A nonconcurrent cohort study at a single institution with 136 patients who had no previous history of dry eye disease before HSCT. Survival analysis was used to estimate dry eye disease incidence. The incidence rate was calculated using life tables as the number of observed dry eye disease cases divided by the person-time at risk accumulated by the cohort. Transition probabilities were calculated from time of transplant to time of diagnosis, and then to last recorded visit. Results: Incidence rate was 0.8 cases of dry eye disease per person-year, and half of the population at risk developed dry eye disease during the first 10 months post transplant. Time to develop dry eye disease was 2.5 months for mild dry eye disease, 9.6 months for moderate dry eye disease, and 13.2 months for severe dry eye disease. In terms of cumulative incidence, 73% of subjects developed dry eye disease (50% mild, 16% moderate, and 7% severe) at the time of diagnosis. Conclusions: Our findings suggest that dry eye disease associated with cGVHD is an extremely frequent event and shows a wide spectrum of severity, with a mild form presenting early and a moderate to severe form presenting later after HSCT. These findings need to be studied further to elucidate if these are two different pathophysiological entities or just different expressions of the same pathology. PMID:27507907

Absence of Alzheimer Disease Neuropathologic Changes in Eyes of Subjects With Alzheimer Disease.

PubMed

Williams, Erik A; McGuone, Declan; Frosch, Matthew P; Hyman, Bradley T; Laver, Nora; Stemmer-Rachamimov, Anat

2017-05-01

Alzheimer disease (AD) is the most common cause of dementia in the elderly, and is characterized by extracellular deposition of β-amyloid and intracellular accumulation of hyperphosphorylated tau protein in the brain. These pathologic findings are identified postmortem. Various visual deficits in AD have been reported and there have been conflicting reports, through imaging and pathology studies, regarding the presence of changes in the globe that mirror Alzheimer changes in the brain. Moreover, both macular degeneration and glaucoma have been variously characterized as having AD-related features. We examined one or both eyes from 19 autopsy cases, 17 of which had varying degrees of AD-related changes, and 2 of which were age-matched controls. Three cases had glaucoma and 4 had macular degeneration. Immunohistochemistry for tau, β-amyloid, TDP-43, ubiquitin, and α-synuclein showed no evidence of inclusions, deposits or other protein accumulation in any case, in any part of the globe. This finding suggests that regardless of the severity of changes seen in the brain in AD, there are no similar changes in the globe. © 2017 American Association of Neuropathologists, Inc. All rights reserved.

Conserved patterns of incomplete reporting in pre-vaccine era childhood diseases

PubMed Central

Gunning, Christian E.; Erhardt, Erik; Wearing, Helen J.

2014-01-01

Incomplete observation is an important yet often neglected feature of observational ecological timeseries. In particular, observational case report timeseries of childhood diseases have played an important role in the formulation of mechanistic dynamical models of populations and metapopulations. Yet to our knowledge, no comprehensive study of childhood disease reporting probabilities (commonly referred to as reporting rates) has been conducted to date. Here, we provide a detailed analysis of measles and whooping cough reporting probabilities in pre-vaccine United States cities and states, as well as measles in cities of England and Wales. Overall, we find the variability between locations and diseases greatly exceeds that between methods or time periods. We demonstrate a strong relationship within location between diseases and within disease between geographical areas. In addition, we find that demographic covariates such as ethnic composition and school attendance explain a non-trivial proportion of reporting probability variation. Overall, our findings show that disease reporting is both variable and non-random and that completeness of reporting is influenced by disease identity, geography and socioeconomic factors. We suggest that variations in incomplete observation can be accounted for and that doing so can reveal ecologically important features that are otherwise obscured. PMID:25232131

Tuberculous peritonitis: CT appearance

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

Hanson, R.D.; Hunter, T.B.

1985-05-01

Rare, sporadic cases of tuberculous peritonitis do occur in the United States and other advanced countries. Because there are few descriptions of the CT appearance of the peritoneal forms of tuberculous (TB), this report illustrates a case of tuberculous peritonitis with prominent CT findings and discusses the differentiation of this entity from other, more common diseases.

Treatment of tuberculous aortic pseudoaneurysm associated with vertebral tuberculosis: A case series and a literature review.

PubMed

Xue, Jing; Yao, Yimin; Liu, Limin

2018-04-01

Tuberculous aortic pseudoaneurysm associated with vertebral tuberculosis is a rare disease but with very high mortality. We review the literature and find 19 reports with 22 patients. Here we report three cases with vertebral tuberculosis, who also have tuberculous pseudoaneurysm of the aorta. These patients were treated by different methods. We try to analyze the epidemiology, pathogenesis, presentation, and management of this disease to find the best treatment. The patients presented with different symptoms such as pain (chest, abdominal or back), fever, blood volume reduction or hemorrhagic shock symptoms. Large mass also could be observed by imaging. In addition to clinical manifestations, enhanced computed tomography or magnetic resonance imaging could also help the diagnosis of this disease. Tuberculous aortic pseudoaneurysm associated with vertebral tuberculosis. Three patients were treated with anti-tuberculosis(TB) drugs or combined with different sequences surgical treatment: Case 1 refused to receive pseudoaneurysm surgery and only had anti-TB drug treatment; Case 2 received thoracic spinal surgery first; Case 3 received endovascular stent grafting. Two patients (case 1 and case 2) who refused to undergo aneurysm surgery died. The last patient (case 3) underwent endovascular repair and antibiotic therapy for tuberculosis, and the postoperative course was uneventful; the patient recovered and survived. Once the diagnosis of tuberculous pseudoaneurysm is confirmed, surgical treatment should be provided immediately combined with anti-tuberculosis drugs. The aim of the treatment is to save lives, prevent relapse, and facilitate the return to normal life, regardless of the size of the pseudoaneurysm. The pseudoaneurysm should be treated first to prevent aneurysm rupture before the vertebral tuberculosis surgery.

Gorlin-Goltz syndrome: incidental finding on routine ct scan following car accident

PubMed Central

2009-01-01

Introduction Gorlin-Goltz syndrome is a rare hereditary disease. Pathogenesis of the syndrome is attributed to abnormalities in the long arm of chromosome 9 (q22.3-q31) and loss or mutations of human patched gene (PTCH1 gene). Multiple basal cell carcinomas (BCCs), odontogenic keratocysts, skeletal abnormalities, hyperkeratosis of palms and soles, intracranial ectopic calcifications of the falx cerebri and facial dysmorphism are considered the main clinical features. Diagnosis is based upon established major and minor clinical and radiological criteria and ideally confirmed by DNA analysis. Because of the different systems affected, a multidisciplinary approach team of various experts is required for a successful management. Case presentation We report the case of a 19 year-old female who was involved in a car accident and found to present imaging findings of Gorlin-Goltz syndrome during a routine whole body computed tomography (CT) scan in order to exclude traumatic injuries. Conclusion Radiologic findings of the syndrome are easily identifiable on CT scans and may prompt to early verification of the disease, which is very important for regular follow-up and better survival rates from the co-existent diseases. PMID:20062724

Asymmetric chorea as presenting symptom in Graves' disease.

PubMed

Park, Jinsung; Kim, Jung-Guk; Park, Sung-Pa; Lee, Ho-Won

2012-04-01

Chorea is an involuntary movement disorder characterized by irregular, brief movements that flow from one body part to another in a non-stereotyped fashion. In rare instances, chorea is associated with autoimmune thyroid disease. Most of them have been related with Hashimoto's encephalopathy and few cases have been related with Graves' disease. Most reported cases have been in women with Graves' disease. We describe a 16-year-old male patient with asymmetric chorea as presenting symptom in Graves' disease. He had no family history of neurological disease. Brain imaging, laboratory findings and electroencephalogram demonstrated no abnormality except for thyroid dysfunction which was proved by thyroid function test, sonography and radioiodine uptake scan. Asymmetric chorea improved over months after anti-thyroid medications. This asymmetry could be explained by difference in increased hypersensitivity or by the difference in the number of dopamine receptors, and an asymmetrical breakdown of blood-brain barrier due to their genetic differences.

Preventing the preventable through effective surveillance: the case of diphtheria in a rural district of Maharashtra, India

PubMed Central

2013-01-01

Background Epidemic diphtheria is still poorly understood and continues to challenge both developing and developed countries. In the backdrop of poor immunization coverage, non-existent adult boosters, weak case based surveillance and persistence of multiple foci, there is a heightened risk of re-emergence of the disease in epidemic forms in India. Investigating each outbreak to understand the epidemiology of the disease and its current status in the country is therefore necessary. Dhule a predominantly tribal and rural district in Northern Maharashtra has consistently recorded low vaccination coverages alongside sporaidic cases of diphtheria over the last years. Methods This study reports the findings of an onsite survey conducted to assess a recent outbreak of diphtheria in Dhule district and the response mounted to it. Secondary data regarding outbreak detection and response were obtained from the district surveillance office. Clinical data were extracted from hospital records of eleven lab confirmed cases including one death case. Frequency distributions were calculated for each identified clinical and non- clinical variable using Microsoft™ Excel® 2010. Results Our findings suggest a shift in the median age of disease to adolescents (10-15 years) without gender differences. Two cases (18%) reported disease despite immunization. Clinical symptoms included cough (82%), fever (73%), and throat congestion (64%). About 64% and 36% of the 11 confirmed cases presented with a well defined pseudomembrane and a tonsillar patch respectively. Drug resistance was observed in all three culture positive cases. One death occurred despite the administration of Anti-Diphtheric Serum in a partially immunized case (CFR 9%). Genotyping and toxigenicity of strain was not possible due to specimen contamination during transport as testing facilities were unavailable in the district. Conclusions The outbreak raises several concerns regarding the epidemiology of diphtheria in Dhule. The reason for shift in the median age despite consistently poor immunization coverage (below 50%) remains unclear. Concomitant efforts should now focus on improving and monitoring primary immunization and booster coverages across all age groups. Gradually introducing adult immunization at ten year intervals may become necessary to prevent future vulnerabilities. Laboratory networks for genotyping and toxigenicity testing are urgently mandated at district level given the endemicity of the disease in the surrounding region and its recent introduction in remote Dhule. Contingency funds with pre- agreements to obtain ADS and DT/Td vaccines at short notice and developing standard case management protocols at district level are necessary. Monitoring the disease, emerging strains and mutations, alongside drug resistance through robust and effective surveillance is a pragmatic way forward. PMID:23566309

Unilateral temporal myositis heralding polymyositis: ultrasonographic and elastographic findings. Case report.

PubMed

Damian, Laura; Botar Jid, Carolina; Rogojan, Liliana; Dinu, Cristian; Maniu, Alma; Fodor, Daniela; Rednic, Simona; Simon, Siao-Pin

2016-03-01

Temporal myositis is a rare inflammatory disease of the temporal muscle. We report a case of unilateral temporal myositis, in which a polymyositis was diagnosed two years thereafter. Although focal myositis may rarely herald polymyositis, isolated temporal myositis preceding inflammatory myopathies has not been described, to our knowledge. In the setting of a temporal pain and swelling, ultrasonography may help in diagnosis, biopsy guidance, disease extension, and progression assessment. Further studies are necessary to establish the role of elastography in differentiating between muscle inflammation and hypertrophy.

Thalamic Massa Intermedia Duplication in a Dysmorphic 14 month-old Toddler.

PubMed

Whitehead, Matthew T

2015-06-01

The massa intermedia is an inconstant parenchymal band connecting the medial thalami. It may be thickened in various disease processes such as Chiari II malformation or absent in other disease states. However, the massa intermedia may also be absent in up to 30% of normal human brains. To the best of my knowledge, detailed imaging findings of massa intermedia duplication have only been described in a single case report. An additional case of thalamic massa intermedia duplication discovered on a routine brain MR performed for dysmorphic facial features is reported herein.

Effect of the Ebola-virus-disease epidemic on malaria case management in Guinea, 2014: a cross-sectional survey of health facilities

PubMed Central

Plucinski, Mateusz M; Guilavogui, Timothée; Sidikiba, Sidibe; Diakité, Nouman; Diakité, Souleymane; Dioubaté, Mohamed; Bah, Ibrahima; Hennessee, Ian; Butts, Jessica K; Halsey, Eric S; McElroy, Peter D; Kachur, S Patrick; Aboulhab, Jamila; James, Richard; Keita, Moussa

2015-01-01

Summary Background The ongoing west Africa Ebola-virus-disease epidemic has disrupted the entire health-care system in affected countries. Because of the overlap of symptoms of Ebola virus disease and malaria, the care delivery of malaria is particularly sensitive to the indirect effects of the current Ebola-virus-disease epidemic. We therefore characterise malaria case management in the context of the Ebola-virus-disease epidemic and document the effect of the Ebola-virus-disease epidemic on malaria case management. Methods We did a cross-sectional survey of public health facilities in Guinea in December, 2014. We selected the four prefectures most affected by Ebola virus disease and selected four randomly from prefectures without any reported cases of the disease. 60 health facilities were sampled in Ebola-affected and 60 in Ebola-unaffected prefectures. Study teams abstracted malaria case management indicators from registers for January to November for 2013 and 2014 and interviewed health-care workers. Nationwide weekly surveillance data for suspect malaria cases reported between 2011 and 2014 were analysed independently. Data for malaria indicators in 2014 were compared with previous years. Findings We noted substantial reductions in all-cause outpatient visits (by 23 103 [11%] of 214 899), cases of fever (by 20249 [15%] of 131 330), and patients treated with oral (by 22 655 [24%] of 94 785) and injectable (by 5219 [30%] of 17 684) antimalarial drugs in surveyed health facilities. In Ebola-affected prefectures, 73 of 98 interviewed community health workers were operational (74%, 95% CI 65–83) and 35 of 73 were actively treating malaria cases (48%, 36–60) compared with 106 of 112 (95%, 89–98) and 102 of 106 (96%, 91–99), respectively, in Ebola-unaffected prefectures. Nationwide, the Ebola-virus-disease epidemic was estimated to have resulted in 74 000 (71 000–77 000) fewer malaria cases seen at health facilities in 2014. Interpretation The reduction in the delivery of malaria care because of the Ebola-virus-disease epidemic threatens malaria control in Guinea. Untreated and inappropriately treated malaria cases lead to excess malaria mortality and more fever cases in the community, impeding the Ebola-virus-disease response. Funding Global Fund to Fight AIDS, Tuberculosis and Malaria, and President’s Malaria Initiative. PMID:26116183

Low clinical diagnostic accuracy of early vs advanced Parkinson disease: clinicopathologic study.

PubMed

Adler, Charles H; Beach, Thomas G; Hentz, Joseph G; Shill, Holly A; Caviness, John N; Driver-Dunckley, Erika; Sabbagh, Marwan N; Sue, Lucia I; Jacobson, Sandra A; Belden, Christine M; Dugger, Brittany N

2014-07-29

Determine diagnostic accuracy of a clinical diagnosis of Parkinson disease (PD) using neuropathologic diagnosis as the gold standard. Data from the Arizona Study of Aging and Neurodegenerative Disorders were used to determine the predictive value of a clinical PD diagnosis, using 2 clinical diagnostic confidence levels, PossPD (never treated or not clearly responsive) and ProbPD (responsive to medications). Neuropathologic diagnosis was the gold standard. Based on first visit, 9 of 34 (26%) PossPD cases had neuropathologically confirmed PD while 80 of 97 (82%) ProbPD cases had confirmed PD. PD was confirmed in 8 of 15 (53%) ProbPD cases with <5 years of disease duration and 72 of 82 (88%) with ≥5 years of disease duration. Using final diagnosis at time of death, 91 of 107 (85%) ProbPD cases had confirmed PD. Clinical variables that improved diagnostic accuracy were medication response, motor fluctuations, dyskinesias, and hyposmia. Using neuropathologic findings of PD as the gold standard, this study establishes the novel findings of only 26% accuracy for a clinical diagnosis of PD in untreated or not clearly responsive subjects, 53% accuracy in early PD responsive to medication (<5 years' duration), and >85% diagnostic accuracy of longer duration, medication-responsive PD. Caution is needed when interpreting clinical studies of PD, especially studies of early disease that do not have autopsy confirmation. The need for a tissue or other diagnostic biomarker is reinforced. This study provides Class II evidence that a clinical diagnosis of PD identifies patients who will have pathologically confirmed PD with a sensitivity of 88% and specificity of 68%. © 2014 American Academy of Neurology.

Drug-induced cerebral glucose metabolism resembling Alzheimer's Disease: a case study.

PubMed

Riepe, Matthias W; Walther, Britta; Vonend, Catharina; Beer, Ambros J

2015-07-11

With aging of society the absolute number and the proportion of patients with cognitive deficits increase. Multiple disorders and diseases can foster cognitive impairment, e.g., Alzheimer's disease (AD), depressive disorder, or polypharmacy. A 74 year old man presented to the Old Age Psychiatry Service with cognitive deficits while being treated for recurrent depressive episodes and essential tremor with Venlafaxine, Lithium, and Primidone. Neuropsychological testing revealed a medio-temporal pattern of deficits with pronounced impairment of episodic memory, particularly delayed recall. Likewise, cognitive flexibility, semantic fluency, and attention were impaired. Positron emission tomography (PET) with fluorodeoxyglucose was performed and revealed a pattern of glucose utilization deficit resembling AD. On cessation of treatment with Lithium and Primidone, cognitive performance improved, particularly episodic memory performance and cognitive flexibility. Likewise, glucose metabolism normalized. Despite normalization of both, clinical symptoms and glucose utilization, the patient remained worried about possible underlying Alzheimer's disease pathology. To rule this out, an amyloid-PET was performed. No cortical amyloid was observed. Pharmacological treatment of older subjects may mimic glucose metabolism and clinical symptoms of Alzheimer's disease. In the present case both, imaging and clinical findings, reversed to normal on change of treatment. Amyloid PET is a helpful tool to additionally rule out underlying Alzheimer's disease in situations of clinical doubt even if clinical or other imaging findings are suggestive of Alzheimer's disease.

A qualitative study of primary care professionals’ views of case finding for depression in patients with diabetes or coronary heart disease in the UK

PubMed Central

2013-01-01

Background Routinely conducting case finding (also commonly referred to as screening) in patients with chronic illness for depression in primary care appears to have little impact. We explored the views and experiences of primary care nurses, doctors and managers to understand how the implementation of case finding/screening might impact on its effectiveness. Methods Two complementary qualitative focus group studies of primary care professionals including nurses, doctors and managers, in five primary care practices and five Community Health Partnerships, were conducted in Scotland. Results We identified several features of the way case finding/screening was implemented that may lead to systematic under-detection of depression. These included obstacles to incorporating case finding/screening into a clinical review consultation; a perception of replacing individualised care with mechanistic assessment, and a disconnection for nurses between management of physical and mental health. Far from being a standardised process that encouraged detection of depression, participants described case finding/screening as being conducted in a way which biased it towards negative responses, and for nurses, it was an uncomfortable task for which they lacked the necessary skills to provide immediate support to patients at the time of diagnosis. Conclusion The introduction of case finding/screening for depression into routine chronic illness management is not straightforward. Routinized case finding/screening for depression can be implemented in ways that may be counterproductive to engagement (particularly by nurses), with the mental health needs of patients living with long term conditions. If case finding/screening or engagement with mental health problems is to be promoted, primary care nurses require more training to increase their confidence in raising and dealing with mental health issues and GPs and nurses need to work collectively to develop the relational work required to promote cognitive participation in case finding/screening. PMID:23557512

A qualitative study of primary care professionals' views of case finding for depression in patients with diabetes or coronary heart disease in the UK.

PubMed

Maxwell, Margaret; Harris, Fiona; Hibberd, Carina; Donaghy, Eddie; Pratt, Rebekah; Williams, Chris; Morrison, Jill; Gibb, Jennifer; Watson, Philip; Burton, Chris

2013-04-04

Routinely conducting case finding (also commonly referred to as screening) in patients with chronic illness for depression in primary care appears to have little impact. We explored the views and experiences of primary care nurses, doctors and managers to understand how the implementation of case finding/screening might impact on its effectiveness. Two complementary qualitative focus group studies of primary care professionals including nurses, doctors and managers, in five primary care practices and five Community Health Partnerships, were conducted in Scotland. We identified several features of the way case finding/screening was implemented that may lead to systematic under-detection of depression. These included obstacles to incorporating case finding/screening into a clinical review consultation; a perception of replacing individualised care with mechanistic assessment, and a disconnection for nurses between management of physical and mental health. Far from being a standardised process that encouraged detection of depression, participants described case finding/screening as being conducted in a way which biased it towards negative responses, and for nurses, it was an uncomfortable task for which they lacked the necessary skills to provide immediate support to patients at the time of diagnosis. The introduction of case finding/screening for depression into routine chronic illness management is not straightforward. Routinized case finding/screening for depression can be implemented in ways that may be counterproductive to engagement (particularly by nurses), with the mental health needs of patients living with long term conditions. If case finding/screening or engagement with mental health problems is to be promoted, primary care nurses require more training to increase their confidence in raising and dealing with mental health issues and GPs and nurses need to work collectively to develop the relational work required to promote cognitive participation in case finding/screening.

Franklin Delano Roosevelt: The Diagnosis of Poliomyelitis Revisited.

PubMed

Ditunno, John F; Becker, Bruce E; Herbison, Gerald J

2016-09-01

Revisiting the ailments of famous historical persons in light of contemporary medical understanding has become a common academic hobby. Public discussion of Franklin Delano Roosevelt's (FDR) diagnosis of poliomyelitis after his sudden onset of paralysis in 1921 has received just such a revisitation. Recently, this 2003 historical analysis has been referenced widely on the Internet and in biographies, raising speculation that his actual diagnosis should have been Guillain-Barré Syndrome, a noncontagious disease of the peripheral nervous system rather than poliomyelitis. The authors of that 2003 analysis used a statistical analysis of his case by selectively choosing some of his reported symptoms. FDR's diagnosis of poliomyelitis, however, was fully supported by the findings of leading expert physicians of that time, who were very knowledgeable in the then-common disease and who periodically examined him during the period of 1921-1924. The most significant diagnostic features of polio are the absence of objective sensory findings in the presence of flaccid motor paralysis. These features are consistent with diagnostic criteria extant during the periods of major poliomyelitis epidemics as well as those of the Center for Disease Control 90 years later. Additional findings of fever, prodromal hyperesthesia, more severe residual proximal muscle weakness, and extensive lower extremity impairment requiring mobility with long leg braces or a wheelchair give further evidence for the diagnosis in FDR's case. Nonbulbar Guillain-Barré Syndrome, which shares the features of a flaccid paralysis and thus mimicking the initial presentation of poliomyelitis, has more than an 80% complete recovery with no reported cases of eventual wheelchair use. The most severe cases of Guillain-Barré Syndrome often have persistent objective sensory loss, associated with greater weakness in the feet and hands, which show no resemblance to FDR's impairment and disability. In light of the expert initial assessments by physicians completely familiar with the signs and symptoms of the then-common disease, review of his initial and subsequent disease course, and residual symptoms in comparison with those of Guillain-Barré syndrome, we find no reason to question the diagnostic accuracy of poliomyelitis and wish to put this debate to rest. Copyright © 2016 American Academy of Physical Medicine and Rehabilitation. Published by Elsevier Inc. All rights reserved.

Feasibility Study of Case-Finding for Breast Cancer by Community Health Workers in Rural Bangladesh.

PubMed

Chowdhury, Touhidul Imran; Love, Richard Reed; Chowdhury, Mohammad Touhidul Imran; Artif, Abu Saeem; Ahsan, Hasib; Mamun, Anwarul; Khanam, Tahmina; Woods, James; Salim, Reza

2015-01-01

Mortality from breast cancer is high in low- and middle-income countries, in part because most patients have advanced stage disease when first diagnosed. Case-finding may be one approach to changing this situation. We conducted a pilot study to explore the feasibility of population-based case finding for breast cancer by community health workers (CHWs) using different data collection methods and approaches to management of women found to have breast abnormalities. After training 8 CHWs in breast problem recognition, manual paper data collection and operation of a cell-phone software platform for reporting demographic, history and physical finding information, these CHWs visited 3150 women >age 18 and over they could find--from 2356 households in 8 villages in rural Bangladesh. By 4 random assignments of villages, data were collected manually (Group 1), or with the cell-phone program alone (Group 2) or with management algorithms (Groups 3 and 4), and women adjudged to have a serious breast problem were shown a motivational video (Group 3), or navigated/accompanied to a breast problem center for evaluation (Group 4). Only three visited women refused evaluation. The manual data acquisition group (1) had missing data in 80% of cases, and took an average of 5 minutes longer to acquire, versus no missing data in the cell phone-reporting groups (2,3 and 4). One woman was identified with stage III breast cancer, and was appropriately treated. Among very poor rural Bangladeshi women, there was very limited reluctance to undergo breast evaluation. The estimated rarity of clinical breast cancer is supported by these population-based findings. The feasibility and efficient use of mobile technology in this setting is supported. Successor studies may most appropriately be trials focusing on improving the suggested benefits of motivation and navigation, on increasing the numbers of cases found, and on stage of disease at diagnosis as the primary endpoint.

Can Mineral Fibers Cause Asbestos Related Diseases? The Long Path from the Reserve Mining Case to Today.

EPA Science Inventory

Asbestos related diseases occur long after exposure and are related to a much broader range of elongated durable particles than expected. Find out why achieving and using a much needed health risk prediction and prevention model for mineral fibers in NE Minnesota has yet to be a...

Neuro-Behçet’s disease in childhood: A focus on the neuro-ophthalmological features

PubMed Central

2013-01-01

Neuro-Behçet’s disease (NBD) involves the central nervous system; peripheral nervous system involvement is not often reported. NBD is quite common in adult patients and occurs rarely during childhood and adolescence. Young patients may share symptoms and signs of NBD with other neuro-ophthalmological disorders (e.g. idiopathic intracranial hypertension); thus, making the differential diagnosis difficult. Neuroimaging is mandatory and necessary for a correct NBD diagnosis but in children radiological examinations are often difficult to perform without sedation. From 1971 to 2011, 130 patients aged ≤16 years have been reported with NBD, according to retrospective surveys, case series, and case reports. The origin of the reported cases met the well-known geographical distribution of Behçet’s disease (BD); the mean age at presentation of neurological findings was 11.8 years, with male gender prevalence (ratio, 2.9:1). We considered in detail the neuro-ophthalmological features of the 53 cases whose neuroimaging alterations were described with an assigned radiological pattern of the disease (parenchymal: 14 cases, non-parechymal: 35 cases, and mixed: 4 cases). In 19/53 patients (36%), neuro-ophthalmological symptoms anticipated any pathognomonic sign for a BD diagnosis, or only occasional aphtae were recalled by the patients. Family history was positive in 17% of subjects. Headache was reported in 75% of the patients; in those presenting with cerebral vascular involvement, headache was combined to other symptoms of intracranial hypertension. Papilledema was the most frequently reported ophthalmological finding, followed by posterior uveitis. Treatment consisted of systemic steroids in 93% of patients, often combined with other immunosuppressive drugs (especially colchicine and azathioprine). Clinical recovery or improvement was documented in the large majority of patients. Nine subjects had definitive alterations, and one died. Based on our review and personal experience, a delayed diagnosis, and the consequently delayed immunosuppressive treatment, may favour permanent sequelae, in particular, optic atrophy. PMID:23360593

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

PubMed

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 from states with low incidence, infection occurred more commonly among females and older adults. In addition, probable cases occurred more commonly among females and with a higher modal age than confirmed cases. Lyme disease continues to be the most commonly reported vectorborne disease in the United States. Although concentrated in historically high-incidence areas, the geographic distribution is expanding into neighboring states. The trend of stable to decreasing case counts in many states with high incidence could be a result of multiple factors, including actual stabilization of disease incidence or artifact due to modifications in reporting practices employed by some states to curtail the resource burden associated with Lyme disease surveillance. This report highlights the continuing public health challenge of Lyme disease in states with high incidence and demonstrates its emergence in neighboring states that previously experienced few cases. Educational efforts should be directed accordingly to facilitate prevention, early diagnosis, and appropriate treatment. As Lyme disease emerges in neighboring states, clinical suspicion of Lyme disease in a patient should be based on local experience rather than incidence cutoffs used for surveillance purposes. A diagnosis of Lyme disease should be considered in patients with compatible clinical signs and a history of potential exposure to infected ticks, not only in states with high incidence but also in areas where Lyme disease is known to be emerging. These findings underscore the ongoing need to implement personal prevention practices routinely (e.g., application of insect repellent and inspection for and removal of ticks) and to develop other effective interventions.

Surveillance for Lyme Disease — United States, 2008–2015

PubMed Central

Schwartz, Amy M.; Hinckley, Alison F.; Mead, Paul S.; Hook, Sarah A.

2017-01-01

Problem/Condition 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. Reporting Period 2008–2015. Description of System 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. Results 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 from states with low incidence, infection occurred more commonly among females and older adults. In addition, probable cases occurred more commonly among females and with a higher modal age than confirmed cases. Interpretation Lyme disease continues to be the most commonly reported vectorborne disease in the United States. Although concentrated in historically high-incidence areas, the geographic distribution is expanding into neighboring states. The trend of stable to decreasing case counts in many states with high incidence could be a result of multiple factors, including actual stabilization of disease incidence or artifact due to modifications in reporting practices employed by some states to curtail the resource burden associated with Lyme disease surveillance. Public Health Action This report highlights the continuing public health challenge of Lyme disease in states with high incidence and demonstrates its emergence in neighboring states that previously experienced few cases. Educational efforts should be directed accordingly to facilitate prevention, early diagnosis, and appropriate treatment. As Lyme disease emerges in neighboring states, clinical suspicion of Lyme disease in a patient should be based on local experience rather than incidence cutoffs used for surveillance purposes. A diagnosis of Lyme disease should be considered in patients with compatible clinical signs and a history of potential exposure to infected ticks, not only in states with high incidence but also in areas where Lyme disease is known to be emerging. These findings underscore the ongoing need to implement personal prevention practices routinely (e.g., application of insect repellent and inspection for and removal of ticks) and to develop other effective interventions. PMID:29120995

Epstein-Barr virus latent membrane protein expression in Hodgkin and Reed-Sternberg cells.

PubMed Central

Herbst, H; Dallenbach, F; Hummel, M; Niedobitek, G; Pileri, S; Müller-Lantzsch, N; Stein, H

1991-01-01

Cryostat sections from lymph nodes of 47 Hodgkin disease patients were examined by immunohistology for the Epstein-Barr virus (EBV)-encoded latent membrane protein (LMP), nuclear antigen 2, and late viral glycoprotein gp350/250. A distinct LMP-specific membrane and cytoplasmic staining was detected exclusively in Hodgkin and Reed-Sternberg cells in 18 patients (38%); EBV nuclear antigen 2 and gp350/250 immunoreactivity was absent in all instances. Thirty-two of 47 (68%) cases contained EBV-specific DNA sequences as detected by PCR, all LMP-positive cases being in this category. Our results confirm previous studies establishing the presence of EBV genomes in Hodgkin and Reed-Sternberg cells by demonstrating expression of an EBV-encoded protein in the tumor-cell population. The finding of LMP expression in the absence of EBV nuclear antigen 2 suggests a pattern of EBV gene expression different from that of B-lymphoblastoid cell lines and Burkitt lymphoma, whereas this finding shows similarities with that seen in undifferentiated nasopharyngeal carcinoma. Because the LMP gene has transforming potential, our findings support the concept of a pathoetiological role of EBV in many cases of Hodgkin disease. Images PMID:1647016

Equine Multinodular Pulmonary Fibrosis in association with asinine herpesvirus type 5 and equine herpesvirus type 5: a case report

PubMed Central

2012-01-01

A standardbred gelding with a history of 10 days pyrexia and lethargy was referred to the Equine Hospital at the Swedish University of Agricultural Sciences in Uppsala, Sweden. The horse had tachypnea with increased respiratory effort and was in thin body condition. Laboratory findings included leukocytosis, hyperfibrinogenemia and hypoxemia. Thoracic radiographs showed signs of pneumonia with a multifocal nodular pattern, which in combination with lung biopsy findings indicated Equine Multinodular Pulmonary Fibrosis (EMPF). EMPF is a recently described disease in adult horses with clinical signs of fever, weight loss and respiratory problems. The pathological findings include loss of functional pulmonary parenchyma due to extensive nodular interstitial fibrosis which has been related to infection with the equine herpesvirus type 5 (EHV-5). In this case, lung biopsy and tracheal wash samples tested positive for both asinine herpesvirus type 5 (AHV-5) and EHV-5 using PCR assays. The horse failed to respond to treatment and was euthanized for humane reasons. Postmortem examination confirmed the diagnosis of EMPF. This case suggests that not only EHV-5 alone should be considered in association with the development of this disease. PMID:23009194

A rare case of hidebound disease with dental implications.

PubMed

Bali, Vikram; Dabra, Sarita; Behl, Ashima Bali; Bali, Rajiv

2013-07-01

Systemic sclerosis (also called as Scleroderma or hidebound disease) is a chronic sclerotic disease of unknown etiology which causes diffuse, increased deposition of extra cellular matrix in connective tissue with vascular abnormalities, resulting in tissue hypoxia. The disease is characterized by diffuse fibrosis; degenerative changes; and vascular abnormalities in the skin (scleroderma), articular structures, and internal organs. Aesthetic and facial dysfunctions are followed by important oral and facial manifestations. Most oral manifestations begin with tongue rigidity and facial skin changes. Bone resorption of mandibular angle and widening of periodontal ligament space on periapical radiographs are important radiological findings. Other systemic changes include the involvement of internal organs, which lead to serious complications as well as disorders in the cardiac muscle and Raynaud΄s phenomenon. This is a case report of 30-year-old female patient with the classical features of this disease. This case is reported for its rarity and variable expressivity. The main aim of this article is to describe thorough presentation of the case report, various forms of scleroderma, pathogenesis, oral, extraoral, periodontal manifestations of scleroderma, and its treatment options. A brief review of the literature, focusing on dental alterations is also presented.

Sonographic findings of localized Castleman disease of the abdomen and pelvis.

PubMed

Zhou, Wei; Zhan, Weiwei; Zhou, Jianqiao; Zhu, Ying; Yao, Jiejie

2015-09-01

The purpose of this study was to sonographically evaluate the diagnosis of localized Castleman disease in the abdomen and pelvis. This was a retrospective analysis of 18 cases of Castleman disease localized in the abdomen and pelvis. The following features of the lesions were assessed on sonography (US): location, size, margin, echogenicity, echotexture, intralesional cystic necrosis, intralesional calcification, posterior acoustic enhancement, and blood supply. Of the 18 tumors, 16 were located in the abdomen and 2 were located in the pelvis close to iliac vessels. The most frequent appearance of localized Castleman disease in the abdomen and pelvis on US was of a single, well-defined, hypoechoic solid mass with no intralesional cystic necrosis. The internal echotexture was homogeneous in 4 cases and heterogeneous in 14 cases, with thin hyperechoic septa (n = 14) or calcifications (n = 3). Posterior acoustic enhancement was seen in 17 of the 18 cases (94%). Ninety-four percent of the lesions (17/18) had marked vascularity on color Doppler US. Localized Castleman disease in the abdomen and pelvis usually appears on US as a heterogeneously hypoechoic lesion containing thin septa, and more commonly than not, demonstrates posterior acoustic enhancement and marked vascularity. © 2014 Wiley Periodicals, Inc.

Allopurinol use in pregnancy in three women with inflammatory bowel disease: safety and outcomes: a case series.

PubMed

Fazal, Muhammad W; Doogue, Matt P; Leong, Rupert W; Bampton, Peter A; Andrews, Jane M

2013-12-17

Allopurinol is a frequently prescribed drug. In inflammatory bowel disease patients who shunt thiopurine metabolism towards more toxic and less desirable pathways, allopurinol is proving to be an effective add on therapy with good resultant disease control and less treatment side effects. As many such patients are young, the potential for pregnant women to be exposed to allopurinol is increasing. The safety of allopurinol in pregnancy is not known however. We report three cases of safe use of allopurinol in pregnancy for women with inflammatory bowel disease. This included 2 patients with ulcerative colitis and 1 patient with fistulising Crohn's disease. Allopurinol was used throughout pregnancy in all patients. All 3 pregnancies resulted in normal healthy babies born at term by Caesarean section. It is important to evaluate and document the safety of allopurinol during pregnancy, as it is finding new roles in young patients. These three cases add significantly to the very limited data on allopurinol use in pregnancy. We encourage reporting of all cases of allopurinol use in pregnant patients and suggest an allopurinol pregnancy registry to document drug exposures and outcomes.

Case Report: Ursodeoxycholic acid treatment in Niemann-Pick disease type C; clinical experience in four cases

PubMed Central

Movsesyan, Nina; Platt, Frances M.

2017-01-01

In this case series, we demonstrate that Ursodeoxycholic acid (UDCA) improves liver dysfunction in Niemann-Pick type C (NPC) and may restore a suppressed cytochrome p450 system. NPC disease is a progressive neurodegenerative lysosomal storage disease caused by mutations in either the NPC1 or NPC2 genes. Liver disease is a common feature presenting either acutely as cholestatic jaundice in the neonatal period, or in later life as elevated liver enzymes indicative of liver dysfunction. Recently, an imbalance in bile acid synthesis in a mouse model of NPC disease was linked to suppression of the P450 detoxification system and was corrected by UDCA treatment. UDCA (3α, 7β-dihydroxy-5β-cholanic acid), a hydrophilic bile acid, is used to treat various cholestatic disorders. In this report we summarise the findings from four independent cases of NPC, three with abnormal liver enzyme levels at baseline, that were subsequently treated with UDCA. The patients differed in age and clinical features, they all tolerated the drug well, and in those with abnormal liver function, there were significant improvements in their liver enzyme parameters. PMID:29119141

A new worm infiltrating the human cornea: A report of three cases.

PubMed

McBurney-Lin, Shan; Khorram, David; Gee, Stephen; Hoberg, Eric P; Klassen-Fischer, Mary K; Neafie, Ronald C

2018-03-01

To characterize a new species of parasitic nematode that triggers uveitis. Three previously healthy, relatively young people each contracted a corneal stromal nematode that, upon surgical removal and examination, did not match any known nematodes. Clinical ocular findings included corneal opacification, visible corneal worms, conjunctival injection, and uveitis. The three cases presented here represent a previously undescribed parasitic infection of the cornea by an unidentified nematode. These findings may represent a previously unrecognized zoonotic infection from wildlife sources and potentially a newly documented nematode requiring description. Future clinical findings regarding this newly described nematode are needed to further develop our understanding of the disease.

Peripheral Synucleinopathy in Early Parkinson’s Disease: Submandibular Gland Needle Biopsy Findings

PubMed Central

Adler, Charles H.; Dugger, Brittany N.; Hentz, Joseph G.; Hinni, Michael L.; Lott, David G.; Driver-Dunckley, Erika; Mehta, Shyamal; Serrano, Geidy; Sue, Lucia I.; Duffy, Amy; Intorcia, Anthony; Filon, Jessica; Pullen, Joel; Walker, Douglas G.; Beach, Thomas G.

2015-01-01

Background Finding a peripheral tissue biopsy site to diagnose early Parkinson’s disease would be of value for clinical care, biomarker validation, and as research enrollment criteria. While autopsy and advanced Parkinson’s disease studies suggest submandibular gland is an important biopsy site, there are no studies in early Parkinson’s disease. Objectives Determine whether needle biopsy of the submandibular gland reveals Lewy type α-synucleinopathy in early Parkinson’s disease. Methods Twenty-five early Parkinson’s disease (duration < 5 years) and 10 controls underwent transcutaneous needle core biopsies of the submandibular gland. Tissue was stained for phosphorylated α-synuclein, reviewed blind to clinical diagnosis, and only nerve element staining was considered positive. Results Mean (Standard Deviation) age 69.5 (8.3) for Parkinson’s disease group, 64.8 (8.0) years for controls, and disease duration 2.6 (1.1) years. Six Parkinson’s disease and one control subject had inadequate glandular tissue. Positive staining was found in 14/19 (74%) Parkinson’s disease and 2/9 (22%) control subjects. Parkinson’s disease positive and negative cases did not differ clinically. Adverse events (mainly swelling and bruising) were common (77% of cases), but were minor and transient. Conclusions Submandibular gland needle biopsies identified phosphorylated α-synuclein staining in 74% of early Parkinson’s disease subjects. False positives may be true false positives or may represent prodromal Parkinson’s disease. If confirmed in larger studies with eventual autopsy confirmation, the potential value of submandibular gland biopsies for early Parkinson’s disease may be to aid in clinical trial inclusion/exclusion and eventually serve as a gold standard for biomarker studies short of autopsy confirmation. PMID:26799362

Epidemiology. Tracking the human fallout from 'mad cow disease'.

PubMed

Balter, M

2000-09-01

A task force here has been studying cases of variant Creutzfeldt-Jakob disease (vCJD), an incurable malady of the brain and nervous system that has been linked to eating beef or other products from cattle infected with bovine spongiform encephalopathy or "mad cow disease." The team's goal is to find out just how the patients got infected and how many of them there may ultimately be. The number of confirmed or probable vCJD cases in the United Kingdom is still relatively small--a total of 80 as Science went to press--and recent estimates of the number of potential cases are lower than was once feared. Yet the task force's own recent results show that the incidence of vCJD is rising, and researchers remain determined to try to solve the riddles posed by vCJD.

Metastatic Extramammary Paget's Disease of Scrotum Responds Completely to Single Agent Trastuzumab in a Hemodialysis Patient: Case Report, Molecular Profiling and Brief Review of the Literature

PubMed Central

Barth, Peter; Dulaimi Al-Saleem, Essel; Edwards, Kristin W.; Millis, Sherri Z.; Wong, Yu-Ning; Geynisman, Daniel M.

2015-01-01

Extramammary Paget's disease (EMPD) is a rare cancer. Although EMPD is usually noninvasive and treated with local therapy, once metastatic the prognosis of EMPD is poor and treatment options are limited. We report a case of a complete response to single agent trastuzumab in a hemodialysis patient with metastatic Her2/neu overexpressed EMPD of the scrotum. Molecular profiling of his case as well as 12 other EMPD and 8 mammary Paget disease (MPD) cases was completed and revealed multiple biomarker aberrations. Overexpression of Her2 was frequently noted (30%–40%) in both EMPD and MPD patients and when present can be effectively treated with Her2 targeted agents. Trastuzumab therapy can be safely utilized in a hemodialysis patient. In addition, multiple protein overexpression and loss were seen in EMPD including PD-1, PD-L1, PTEN, and AR as well as PIK3CA mutation. These findings may lead to possible therapeutic interventions targeting these pathways in a disease with few effective treatment options. PMID:25692060

Tuberculous spondylitis diagnosed through Xpert MTB/RIF assay in urine: a case report.

PubMed

Sikalengo, George; Ramirez, Adria; Faini, Diana; Mwamelo, Kim; Battegay, Manuel; Jugheli, Levan; Hatz, Christoph; Reither, Klaus; Letang, Emilio

2016-09-26

Extrapulmonary tuberculosis (EPTB) is associated with high rates of morbidity and mortality. Diagnosis of EPTB is challenging in resource-limited settings due to difficulties in obtaining samples, as well as the paucibacillarity of the specimens. Skeletal tuberculosis accounts for 10-35 % of EPTB cases, with vertebral osteomyelitis (Pott's disease) representing 50 % of the cases. We present two cases of suspected Pott's disease, diagnosed through GeneXpert MTB/RIF assay in urine at a rural Tanzanian hospital. Case I A 49-year old male, HIV-1 positive, on co-formulated tenofovir disoproxil fumarate/lamivudine/efavirenz since 2009 and CD4 counts of 205 cells/μL (13 %). He presented with lower back pain and progressive lower limb weakness for two weeks prior to admission. The physical examination revealed bilateral flaccid paraplegia with reduced reflexes, but otherwise unremarkable findings. A lateral lumbar X-ray showed noticeable reduction of intervertebral space between L4 and L5, and a small calcification in the anterior longitudinal ligament between L4 and L5, being compatible with focal spondylosis deformans but inconclusive with regard to tuberculous spondylitis. An abdominal ultrasound showed normal kidneys, bladder and prostate gland. The urinalysis and complete blood counts (CBC) were normal. M. Tuberculosis was detected through GeneXpert MTB/RIF in centrifuged urine, with no resistance to rifampicin. Case II A 76-year old female, HIV-1 negative, presented with lower back pain and progressive weakness and numbness of the lower limbs for two months prior to admission. The physical examination revealed paraplegia, but otherwise unremarkable findings. The lumbosacral X-ray findings were compatible with spondylosis deformans of the lumbar spine and possible tuberculous spondylitis in L3-L4. The abdominal and renal ultrasound showed normal kidneys and bladder. The urinalysis and CBC were normal. M. Tuberculosis was detected through GeneXpert MTB/RIF in centrifuged urine, with no resistance to rifampicin. We report two cases of suspected tuberculous spondylitis diagnosed through Xpert MTB/RIF in urine samples from a rural Tanzanian hospital. Urine testing using Xpert MTB/RIF reflects disseminated disease and renal involvement, and may offer a feasible additional diagnostic approach for Pott's disease in rural Africa.

Pattern of glomerular diseases in Oman: a study based on light microscopy and immunofluorescence.

PubMed

Alwahaibi, Nasar Yousuf; Alhabsi, Taiseer Ahmed; Alrawahi, Samira Abdullah

2013-03-01

Light microscopy and immunofluorescence play an important part in the final diagnosis of renal biopsy. The aim of this study was to analyze the pattern of various glomerular diseases in Oman. A total of 424 renal biopsies were retrospectively analyzed at the Sultan Qaboos University Hospital between 1999 and 2010. Focal and segmental glomerulosclerosis (FSGS), minimal change disease (MCD), membranous glomerulopathy (MGN) and IgA nephropathy were the most common primary glomerular diseases encountered, accounting for 21.2%, 17%, 12.3% and 8.3%, respectively, of all cases. Lupus nephritis was the most common secondary glomerular disease and was the most prevalent among all biopsies, accounting for 30.4% of all biopsies. Amyloidosis was seen in only two cases. The presence of fluorescein isothiocyanatefibrin in all renal cases was low when compared with IgG, IgA, IgM, C3 and C1q markers. In conclusion, based on the findings of this study, lupus nephritis was the most common of all glomerular diseases and FSGS was the most common primary glomerular disease. The importance of fluorescein isothiocyanate-fibrin in the diagnosis of renal biopsy needs to be further investigated.

Imaging findings in a case of Gorlin-Goltz syndrome: a survey using advanced modalities.

PubMed

Bronoosh, Pegah; Shakibafar, Ali Reza; Houshyar, Maneli; Nafarzade, Shima

2011-12-01

Gorlin-Goltz syndrome is an infrequent multi-systemic disease which is characterized by multiple keratocysts in the jaws, calcification of falx cerebri, and basal cell carcinomas. We report a case of Gorlin-Goltz syndrome in a 23-year-old man with emphasis on image findings of keratocyctic odontogenic tumors (KCOTs) on panoramic radiograph, computed tomography, magnetic resonance (MR) imaging, and Ultrasonography (US). In this case, pericoronal lesions were mostly orthokeratinized odontogenic cyst (OOC) concerning the MR and US study, which tended to recur less. The aim of this report was to clarify the characteristic imaging features of the syndrome-related keratocysts that can be used to differentiate KCOT from OOC. Also, our findings suggested that the recurrence rate of KCOTs might be predicted based on their association to teeth.

Patient perspectives on whole-genome sequencing for undiagnosed diseases.

PubMed

Boeldt, Debra L; Cheung, Cynthia; Ariniello, Lauren; Darst, Burcu F; Topol, Sarah; Schork, Nicholas J; Philis-Tsimikas, Athena; Torkamani, Ali; Fortmann, Addie L; Bloss, Cinnamon S

2017-01-01

This study assessed perspectives on whole-genome sequencing (WGS) for rare disease diagnosis and the process of receiving genetic results. Semistructured interviews were conducted with adult patients and parents of minor patients affected by idiopathic diseases (n = 10 cases). Three main themes were identified through qualitative data analysis and interpretation: perceived benefits of WGS; perceived drawbacks of WGS; and perceptions of the return of results from WGS. Findings suggest that patients and their families have important perspectives on the use of WGS in diagnostic odyssey cases. These perspectives could inform clinical sequencing research study designs as well as the appropriate deployment of patient and family support services in the context of clinical genome sequencing.

The need for genetic study to diagnose some cases of distal renal tubular acidosis.

PubMed

Heras Benito, Manuel; Garcia-Gonzalez, Miguel A; Valdenebro Recio, María; Molina Ordás, Álvaro; Callejas Martínez, Ramiro; Rodríguez Gómez, María Astrid; Calle García, Leonardo; Sousa Silva, Lisbeth; Fernández-Reyes Luis, María José

We describe the case of a young woman who was diagnosed with advanced kidney disease, with an incidental finding of nephrocalcinosis of unknown aetiology, having been found asymptomatic throughout her life. The genetic study by panels of known genes associated with tubulointerstitial disease allowed us to discover autosomal dominant distal renal tubular acidosis associated with a de novo mutation in exon 14 of the SLC4A1 gene, which would have been impossible to diagnose clinically due to the advanced nature of the kidney disease when it was discovered. Copyright © 2016 Sociedad Española de Nefrología. Published by Elsevier España, S.L.U. All rights reserved.

[Forensic Analysis of 6 Cases of Sudden Death due to Hyperthyroid Heart Disease].

PubMed

Zhang, M Z; Li, B X; Zhao, R; Guan, D W; Zhang, G H; Wu, X; Zhu, B L; Li, R B

2017-10-01

To analyse the cases of sudden death due to hyperthyroid heart disease, and explore the general information of deaths and the forensic pathological characteristics to provide reference evidence for forensic identification of such cases. Six cases of sudden death due to hyperthyroid heart disease between 2001 and 2016 were selected from School of Forensic Medicine, China Medical University. The general information （gender and age）, clinical manifestations, medical history, anatomical and histopathological findings, biochemical parameters and cause of death were analysed retrospectively. Most of the 6 patients had definite history of hyperthyroidism, and they all showed certain degrees of symptoms of cardiovascular disease; had obvious incentive factors of death; histopathological examination of thyroid conformed to the performances of diffuse toxic goiter; with increase of cardiac weight, dilatation of cardiac chambers, myocardial hypertrophy and focal necrosis; postmortem biochemical analyses of pericardial fluid could be used as an additional method for diagnostic of sudden death due to hyperthyroid heart disease. The identification of death due to hyperthyroid heart disease should be based on the clinical history and the results of autopsy, histopathological examination, postmortem toxicology tests. The postmortem biochemical detection of thyroid and cardiac function should be performed if necessary. Copyright© by the Editorial Department of Journal of Forensic Medicine

Cronkhite-Canada Syndrome (CCS)-A Rare Case Report.

PubMed

Chakrabarti, Subrata

2015-03-01

Cronkhite-Canada syndrome (CCS) is an extremely rare non-inherited condition characterized by gastrointestinal hamartomatous polyposis, alopecia, onychodystrophy, hyperpigmentation, weight loss and diarrhoea. The aetiology is probably autoimmune and diagnosis is based on history, physical examination, endoscopic findings of gastrointestinal polyposis, and histology. The disease is very rare; approximately 450 cases of CCS have been reported worldwide. The author reports a case of CCS in an elderly Indian male.

Multifocal recurrent periostitis. Report of two cases.

PubMed

Kozlowski, K; Anderson, R; Tink, A

1981-11-01

Two case reports of recurrent multifocal periostitis in two girls aged 15 and 6 are added to the eight cases already reported in the literature. The disease is characterized clinically by recurrent mesomelic swelling of the extremities and radiologically by periosteal thickening and sclerosis of underlying bone. Hyperglobulinaemia is the most constant biochemical finding. The bone biopsy shows no typical features. The possibility of a viral etiology is discussed.

Clinical signs and clinicopathologic abnormalities in dogs with clinical spirocercosis: 39 cases (1996-2004).

PubMed

Mylonakis, Mathios E; Rallis, Tim; Koutinas, Alexander F; Leontides, Leonidas S; Patsikas, Michail; Florou, Marianna; Papadopoulos, Elias; Fytianou, Anna

2006-04-01

To determine clinical signs and clinicopathologic abnormalities in dogs with naturally occurring clinical spirocercosis. Retrospective case series. 39 dogs with spirocercosis. Medical records were reviewed, and information on signalment, residence (rural vs urban), owner complaints, physical examination findings, clinicopathologic abnormalities, radiographic and endoscopic findings, and concurrent systemic diseases was recorded. Hellenic hounds and mixed-breed dogs were overrepresented, compared with a group of 117 control dogs without spirocercosis that were examined because of gastrointestinal tract disease, and mean body weight of dogs with spirocercosis was significantly higher than mean body weight of control dogs. Odynophagia (34 [87%]), regurgitation (24 [62%]), and excessive salivation (14 [36%]) were the most common clinical findings. The most common radiographic abnormalities were a mass in the caudodorsal aspect of the mediastinum (15/35 [43%]) and spondylitis of the caudal thoracic vertebrae (10 [29%]). Parasitic nodules were seen during esophagoscopy in all 39 dogs. Normocytic, normochromic, nonregenerative anemia; neutrophilic leukocytosis; hyperproteinemia; and high alkaline phosphatase activity were significantly more common in dogs with spirocercosis than in a control group of 56 healthy dogs. Concurrent systemic diseases, mainly leishmaniosis, dirofilariosis, and monocytic ehrlichiosis, were documented in 14 (36%) dogs. Results suggest that clinical spirocercosis occurs more often in young-adult, large-breed dogs. Nonregenerative anemia, neutrophilic leukocytosis, hyperproteinemia, and high alkaline phosphatase activity may be useful clinicopathologic indicators of this disease.

Sporadic Hemangioblastoma Arising from the Infundibulum.

PubMed

Pakdaman, Michael N; Austin, Matthew J; Bannykh, Serguei; Pressman, Barry D

2017-05-01

Hemangioblastomas are rare vascular tumors most often found in the posterior fossa and cervical spinal cord and commonly associated with von Hippel-Lindau Disease. We report a case of sporadic hemangioblastoma in a patient without von Hippel-Lindau Disease. Imaging characteristics included a solid, suprasellar mass that was homogeneously enhancing. These findings most resembled a pituicytoma or choroid glioma because of the close association with the infundibulum and the homogeneous avid enhancement. Microscopically, the neoplasm was seen to be composed of vascular channels associated with foamy stromal cells, containing clear cytoplasmic vacuoles. Microscopic and immunohistochemical findings were consistent with hemangioblastoma. Hemangioblastomas are a rare form of vascular tumor most commonly associated with von-Hippel Lindau disease. Our finding of non-cystic hemangioblastoma arising from the infundibulum demonstrates that, while rare, hemangioblastomas should be considered on the differential diagnosis for an avidly enhancing suprasellar mass.

Retrospective study of sonographic findings in bone involvement associated with rotator cuff calcific tendinopathy: preliminary results of a case series*

PubMed Central

Nogueira-Barbosa, Marcello H.; Gregio-Junior, Everaldo; Lorenzato, Mario Muller

2015-01-01

Objective The present study was aimed at investigating bone involvement secondary to rotator cuff calcific tendonitis at ultrasonography. Materials and Methods Retrospective study of a case series. The authors reviewed shoulder ultrasonography reports of 141 patients diagnosed with rotator cuff calcific tendonitis, collected from the computer-based data records of their institution over a four-year period. Imaging findings were retrospectively and consensually analyzed by two experienced musculoskeletal radiologists looking for bone involvement associated with calcific tendonitis. Only the cases confirmed by computed tomography were considered for descriptive analysis. Results Sonographic findings of calcific tendinopathy with bone involvement were observed in 7/141 (~ 5%) patients (mean age, 50.9 years; age range, 42-58 years; 42% female). Cortical bone erosion adjacent to tendon calcification was the most common finding, observed in 7/7 cases. Signs of intraosseous migration were found in 3/7 cases, and subcortical cysts in 2/7 cases. The findings were confirmed by computed tomography. Calcifications associated with bone abnormalities showed no acoustic shadowing at ultrasonography, favoring the hypothesis of resorption phase of the disease. Conclusion Preliminary results of the present study suggest that ultrasonography can identify bone abnormalities secondary to rotator cuff calcific tendinopathy, particularly the presence of cortical bone erosion. PMID:26811551

Retrospective study of sonographic findings in bone involvement associated with rotator cuff calcific tendinopathy: preliminary results of a case series.

PubMed

Nogueira-Barbosa, Marcello H; Gregio-Junior, Everaldo; Lorenzato, Mario Muller

2015-01-01

The present study was aimed at investigating bone involvement secondary to rotator cuff calcific tendonitis at ultrasonography. Retrospective study of a case series. The authors reviewed shoulder ultrasonography reports of 141 patients diagnosed with rotator cuff calcific tendonitis, collected from the computer-based data records of their institution over a four-year period. Imaging findings were retrospectively and consensually analyzed by two experienced musculoskeletal radiologists looking for bone involvement associated with calcific tendonitis. Only the cases confirmed by computed tomography were considered for descriptive analysis. Sonographic findings of calcific tendinopathy with bone involvement were observed in 7/141 (~ 5%) patients (mean age, 50.9 years; age range, 42-58 years; 42% female). Cortical bone erosion adjacent to tendon calcification was the most common finding, observed in 7/7 cases. Signs of intraosseous migration were found in 3/7 cases, and subcortical cysts in 2/7 cases. The findings were confirmed by computed tomography. Calcifications associated with bone abnormalities showed no acoustic shadowing at ultrasonography, favoring the hypothesis of resorption phase of the disease. Preliminary results of the present study suggest that ultrasonography can identify bone abnormalities secondary to rotator cuff calcific tendinopathy, particularly the presence of cortical bone erosion.

The Association between Gravidity and Primary Biliary Cirrhosis

PubMed Central

PARIKH-PATEL, ARTI; GOLD, ELLEN; UTTS, JESSICA; GERSHWIN, M. ERIC

2011-01-01

PURPOSE Primary biliary cirrhosis is an autoimmune disease with female predominance that leads to liver failure. The goal of this study was to identify reproductive risk factors associated with this disease. METHODS We compared 182 cases of PBC with 225 age- and sex-matched friend controls to examine the role of reproductive factors. The survey instrument was developed using standardized questions obtained from the National Health and Nutrition Examination Survey (NHANES) III. RESULTS A total of 126/182 cases (69%) and 141/225 (62.6%) friend controls responded to the survey. More cases than controls reported ever having genitourinary infection [adjusted odds ratio (OR) = 2.12, 95% confidence interval (CI) 1.01, 4.42] among those without a personal or family history of autoimmune disease. The most notable finding was that cases reported significantly more pregnancies than controls (p = 0.008). The adjusted OR for each additional pregnancy among those without a personal or family history of autoimmune disease was 1.40 (95% CI 1.14, 1.7). More controls (24.4%) than cases (16.0%) were nulliparous. Cases reported having five or more children (16.0%) with double the frequency of controls (8.2%). CONCLUSIONS The association reported herein, between primary biliary cirrhosis and gravidity, is particularly significant because of the overwhelming female predominance. PMID:11988415

Lupus erythematosus and localized scleroderma coexistent at the same sites: a rare presentation of overlap syndrome of connective-tissue diseases.

PubMed

Pascucci, Anabella; Lynch, Peter J; Fazel, Nasim

2016-05-01

Overlap syndromes are known to occur with connective-tissue diseases (CTDs). Rarely, the overlap occurs at the same tissue site. We report the case of a patient with clinical and histopathologic findings consistent with the presence of discoid lupus erythematosus (DLE) and localized scleroderma within the same lesions. Based on our case and other reported cases in the literature, the following features are common in patients with an overlap of lupus erythematosus (LE) and localized scleroderma: predilection for young women, photodistributed lesions, DLE, linear morphology clinically, and positivity along the dermoepidermal junction on direct immunofluorescence. Most patients showed good response to antimalarials, topical steroids, or systemic steroids.

Contact lens fitting in a patient with Alport syndrome and posterior polymorphous corneal dystrophy: a case report.

PubMed

Rosa, Juliana Maria da Silva; Andrade Sobrinho, Marcelo Vicente de; Lipener, César

2016-02-01

Alport Syndrome is a hereditary disease that is caused by a gene mutation and affects the production of collagen in basement membranes; this condition causes hemorrhagic nephritis associated with deafness and ocular changes. The X-linked form of this disease is the most common and mainly affects males. Typical ocular findings are dot-and-fleck retinopathy, anterior lenticonus, and posterior polymorphous corneal dystrophy. Some cases involving polymorphous corneal dystrophy and corneal ectasia have been previously described. Here we present a case report of a 33-year-old female with Alport syndrome, posterior polymorphous corneal dystrophy, and irregular astigmatism, whose visual acuity improved with a rigid gas permeable contact lens.

Cardiac mesothelial papillary hyperplasia in four dogs.

PubMed

Kirejczyk, Shannon G; Burnum, Anne L; Brown, Corrie C; Sakamoto, Kaori; Rissi, Daniel R

2018-05-01

Mesothelial papillary hyperplasia (MPH) has been described as an incidental finding on the epicardial surface of clinically normal laboratory Beagle dogs. We describe MPH in 4 dogs diagnosed with acute cardiac tamponade (1 case) or chronic cardiac disease (3 cases). Cardiac MPH appeared as distinct, soft, irregular villous plaques on the epicardial surface of the auricles and occasionally the ventricles. Histologically, areas of MPH were composed of multiple papillary fronds arising from the epicardial surface and projecting into the pericardial space. Fronds were covered by cuboidal and occasionally vacuolated mesothelial cells and were supported by loose fibrovascular stroma with various degrees of edema and inflammation. Although these may represent incidental findings with no clinical significance, the gross appearance warrants differentiation from other conditions. Additional insight into the pathogenesis of MPH is needed to fully understand its significance in the face of concurrent cardiac disease.

Leigh syndrome with spinal cord involvement due to a hemizygous NDUFA1 mutation.

PubMed

Miyauchi, Akihiko; Osaka, Hitoshi; Nagashima, Masako; Kuwajima, Mari; Monden, Yukifumi; Kohda, Masakazu; Kishita, Yoshihito; Okazaki, Yasushi; Murayama, Kei; Ohtake, Akira; Yamagata, Takanori

2018-06-01

Leigh syndrome, which is a common phenotype of pediatric mitochondrial disease, is a progressive neurodegenerative disease. The typical neuroimaging findings of Leigh syndrome include bilateral symmetric lesions in the basal ganglia and/or the brainstem. However, there are a few reports on spinal cord involvement in patients with Leigh syndrome. In the present case, magnetic resonance imaging (MRI) obtained during infancy revealed symmetric lesions in the substantia nigra of a patient with Leigh syndrome with an NDUFA1 mutation; lesions of the bilateral putamen and brainstem were subsequently observed. Additionally, our patient presented large and extended spinal cord lesions. Therefore, this case is suggesting that we should consider the occurrence of spinal cord lesions as an atypical finding in Leigh syndrome. Copyright © 2018 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

Rare disease diagnosis: A review of web search, social media and large-scale data-mining approaches.

PubMed

Svenstrup, Dan; Jørgensen, Henrik L; Winther, Ole

2015-01-01

Physicians and the general public are increasingly using web-based tools to find answers to medical questions. The field of rare diseases is especially challenging and important as shown by the long delay and many mistakes associated with diagnoses. In this paper we review recent initiatives on the use of web search, social media and data mining in data repositories for medical diagnosis. We compare the retrieval accuracy on 56 rare disease cases with known diagnosis for the web search tools google.com, pubmed.gov, omim.org and our own search tool findzebra.com. We give a detailed description of IBM's Watson system and make a rough comparison between findzebra.com and Watson on subsets of the Doctor's dilemma dataset. The recall@10 and recall@20 (fraction of cases where the correct result appears in top 10 and top 20) for the 56 cases are found to be be 29%, 16%, 27% and 59% and 32%, 18%, 34% and 64%, respectively. Thus, FindZebra has a significantly (p < 0.01) higher recall than the other 3 search engines. When tested under the same conditions, Watson and FindZebra showed similar recall@10 accuracy. However, the tests were performed on different subsets of Doctors dilemma questions. Advances in technology and access to high quality data have opened new possibilities for aiding the diagnostic process. Specialized search engines, data mining tools and social media are some of the areas that hold promise.

Rare disease diagnosis: A review of web search, social media and large-scale data-mining approaches

PubMed Central

Svenstrup, Dan; Jørgensen, Henrik L; Winther, Ole

2015-01-01

Physicians and the general public are increasingly using web-based tools to find answers to medical questions. The field of rare diseases is especially challenging and important as shown by the long delay and many mistakes associated with diagnoses. In this paper we review recent initiatives on the use of web search, social media and data mining in data repositories for medical diagnosis. We compare the retrieval accuracy on 56 rare disease cases with known diagnosis for the web search tools google.com, pubmed.gov, omim.org and our own search tool findzebra.com. We give a detailed description of IBM's Watson system and make a rough comparison between findzebra.com and Watson on subsets of the Doctor's dilemma dataset. The recall@10 and recall@20 (fraction of cases where the correct result appears in top 10 and top 20) for the 56 cases are found to be be 29%, 16%, 27% and 59% and 32%, 18%, 34% and 64%, respectively. Thus, FindZebra has a significantly (p < 0.01) higher recall than the other 3 search engines. When tested under the same conditions, Watson and FindZebra showed similar recall@10 accuracy. However, the tests were performed on different subsets of Doctors dilemma questions. Advances in technology and access to high quality data have opened new possibilities for aiding the diagnostic process. Specialized search engines, data mining tools and social media are some of the areas that hold promise. PMID:26442199

Posterior Circulation Moyamoya Disease versus Primitive Vertebral-Basilar Artery System Moyamoya Disease: New Classification of Moyamoya Disease from the Perspective of Embryology.

PubMed

Tan, Cunxin; Duan, Ran; Ye, Xun; Zhang, Dong; Wang, Rong

2016-12-01

Moyamoya disease (MMD) is a chronic cerebrovascular disorder with little known etiology. We aim to propose a new classification system for MMD from the perspective of embryology. MMD patients' digital subtraction angiograms were retrospectively analyzed. Every angiogram was analyzed to find the abnormal vessels and from which part of the posterior cerebral artery (PCA) the lesions begin. In 262 MMD cases, 32 pediatric patients had PCA involvement, of which 17 were male and 15 were female; 68 adults had PCA involvement, of which 33 were male and 35 were female. The initially affected part of the PCA was compared between sexes and between pediatric and adult patients, and the findings are not statistically significant (P = 0.233, P = 0.855, P = 0.343, respectively). However, of the 100 cases with PCA involvement, only 4 had the lesions begin from the first part of the PCA, and all of the 4 cases had the basilar artery lesions. All the other 96 cases had the lesions begin from the second part of the PCA or from the posterior communication artery, which is derived from the caudal ramus of the primitive intracarotid artery, leaving the first part of the PCA and basilar artery excluded from affection. MMD should be classified into primitive intracarotid artery system-involved type and primitive vertebral basilar artery system-involved type. The reason that the vertebral basilar artery is so rarely involved in MMD might be because of its late development in the brain. Copyright © 2016 Elsevier Inc. All rights reserved.

Diagnostic challenges of celiac disease in a young child: A case report and a review of the literature.

PubMed

Mărginean, Cristina Oana; Meliţ, Lorena Elena; Stefănuţ Săsăran, Vlăduţ; Mărginean, Cristian Dan; Mărginean, Maria Oana

2018-06-01

Celiac disease is a chronic, immune-mediated, multiorgan disorder that affects susceptible individuals, and it is triggered by gluten and other prolamins. We present the case of a 1-year-old male child, with a history of idiopathic pericardial effusion, admitted in our clinic for severe abdominal bloating, irritability, loss of appetite and intermittent diarrheic stools. The clinical findings were: influenced general status, irritability, distended abdomen, and diffuse abdominal tenderness. The initial laboratory tests revealed anemia, leukocytosis, increased inflammatory biomarkers, high levels of transaminases, and hypoalbuminemia. The stool culture identified an enterocolitis with enteropathogenic Escherichia coli (E. coli). We initiated antibiotic treatment, substitution therapy with human albumin and probiotics with initial favorable evolution, but after 1 month, the patient was re-admitted for the persistence of intermittent diarrheic stools and abdominal bloating, when we established the diagnosis of cow's milk protein allergy. We initiated diary-free diet. Unfortunately, the patient was re-admitted after another 8 months, presenting the same clinical and laboratory findings as during the initial admission. We repeated the serology for celiac disease and we performed an upper gastrointestinal endoscopy with duodenal biopsies, which established the diagnosis of celiac disease. After 1 month of gluten-free diet, the patient's evolution improved considerably. Enterocolitis with E. coli could be considered as trigger for CD in our case. The diagnosis of CD in small children can be hindered by an insufficient gluten-exposure, and can lead to a delay in the diagnosis as in the case presented above.

Absence of chronic traumatic encephalopathy in retired football players with multiple concussions and neurological symptomatology.

PubMed

Hazrati, Lili-Naz; Tartaglia, Maria C; Diamandis, Phedias; Davis, Karen D; Green, Robin E; Wennberg, Richard; Wong, Janice C; Ezerins, Leo; Tator, Charles H

2013-01-01

Chronic traumatic encephalopathy (CTE) is the term coined for the neurodegenerative disease often suspected in athletes with histories of repeated concussion and progressive dementia. Histologically, CTE is defined as a tauopathy with a distribution of tau-positive neurofibrillary tangles (NFTs) that is distinct from other tauopathies, and usually shows an absence of beta-amyloid deposits, in contrast to Alzheimer's disease (AD). Although the connection between repeated concussions and CTE-type neurodegeneration has been recently proposed, this causal relationship has not yet been firmly established. Also, the prevalence of CTE among athletes with multiple concussions is unknown. We performed a consecutive case series brain autopsy study on six retired professional football players from the Canadian Football League (CFL) with histories of multiple concussions and significant neurological decline. All participants had progressive neurocognitive decline prior to death; however, only 3 cases had post-mortem neuropathological findings consistent with CTE. The other 3 participants had pathological diagnoses of AD, amyotrophic lateral sclerosis (ALS), and Parkinson's disease (PD). Moreover, the CTE cases showed co-morbid pathology of cancer, vascular disease, and AD. Our case studies highlight that not all athletes with history of repeated concussions and neurological symptomology present neuropathological changes of CTE. These preliminary findings support the need for further research into the link between concussion and CTE as well as the need to expand the research to other possible causes of taupathy in athletes. They point to a critical need for prospective studies with good sampling methods to allow us to understand the relationship between multiple concussions and the development of CTE.

Coccidioidomycosis among Scholarship Athletes and Other College Students, Arizona, USA1

PubMed Central

Stern, Nicole G.

2010-01-01

To compare coccidioidomycosis case rates among groups of young adults in a disease-endemic region, we reviewed medical charts for serologic testing and coding. Case rates were higher for scholarship athletes than for other students and paralleled 5× more serologic testing. Our findings underscore the need to routinely test patients for coccidioidomycosis. PMID:20113571

Dental, dermatological and radiographic findings in a case of Gorlin-Goltz Syndrome: report and review.

PubMed

Nilesh, Kumar; Tewary, Shivsagar; Zope, Sameer; Patel, Jinesh; Vande, Aaditee

2017-01-01

Gorlin-Goltz syndrome (GGS) is a rare autosomal dominant disorder. The disease shows multiple organ involvement with variable clinical presentation. Thus a multidisciplinary approach is required for its prompt clinical diagnosis and management of this condition. This paper highlights a case of GGS presenting in a young male patient with cranial, facial, dermatological, dental and skeletal involvement. The diagnosis of the syndrome was based on its clinical presentation, radiological features and histopathological findings. A review of the diagnostic criteria is also presented.

Dental, dermatological and radiographic findings in a case of Gorlin-Goltz Syndrome: report and review

PubMed Central

Nilesh, Kumar; Tewary, Shivsagar; Zope, Sameer; Patel, Jinesh; Vande, Aaditee

2017-01-01

Gorlin-Goltz syndrome (GGS) is a rare autosomal dominant disorder. The disease shows multiple organ involvement with variable clinical presentation. Thus a multidisciplinary approach is required for its prompt clinical diagnosis and management of this condition. This paper highlights a case of GGS presenting in a young male patient with cranial, facial, dermatological, dental and skeletal involvement. The diagnosis of the syndrome was based on its clinical presentation, radiological features and histopathological findings. A review of the diagnostic criteria is also presented. PMID:28819517

Severe Hypocalcemia in a Patient with Recurrent Chondrosarcoma.

PubMed

Eun, Jung Nam; Choi, Yoo Duk; Lee, Jeong Ho; Jeong, Yun Ah; Yoon, Jee Hee; Kim, Hee Kyung; Kang, Ho-Cheol

2017-01-01

Hypocalcemia is relatively uncommon paraneoplastic syndrome. Only one case of hypocalcemia has been reported in a patient with chondrosarcoma. We herein report a case of a 32-year-old woman with metastatic chondrosarcoma with tetany. Her imaging findings revealed multiple calcific metastatic lesions in the lungs, pancreas, left atrium, and pulmonary vein. A laboratory examination showed hypocalcemia with no evidence of any other disease that could induce hypocalcemia. On the basis of the laboratory and clinical findings, we concluded the etiology of her severe hypocalcemia to be excessive calcium consumption by the tumor itself.

MRI and MR spectroscopy findings of a case of subacute sclerosing panencephalitis affecting the corpus callosum.

PubMed

Öztürk, Mehmet; Sığırcı, Ahmet; Yakıncı, Cengiz

2015-07-10

Subacute sclerosing panencephalitis (SSPE) is a rare, slowly progressive, fatal, inflammatory and neurodegenerative disease that is seen mostly in children and young adolescents, and primarily affects the parieto-occipital lobes. The corpus callosum, cerebellum and basal ganglia are less frequently involved. MR spectroscopy (MRS) may illustrate the pathophysiological features of SSPE. To the best of our knowledge, this is the second report of MRS findings of corpus callosum involvement in a stage 3 SSPE case. 2015 BMJ Publishing Group Ltd.

Use of the measure of patient-centered communication to analyze euthanasia discussions in companion animal practice.

PubMed

Nogueira Borden, Leandra J; Adams, Cindy L; Bonnett, Brenda N; Shaw, Jane R; Ribble, Carl S

2010-12-01

To characterize veterinarian-client communication with undisclosed standardized clients (USCs) during discussions regarding euthanasia of a pet. Descriptive study. 32 companion animal veterinarians (16 males and 16 females) in southern Ontario. During 2 clinic visits, 2 cases (a geriatric dog with worsening arthritis and a cat with inappropriate urination) designed to stimulate discussion regarding euthanasia of a pet were presented by different USCs (individuals trained to consistently present a particular case to veterinarians without disclosing their identity). Discussions were audio recorded and analyzed by use of the measure of patient-centered communication (MPCC [a tool to assess and score physician communication behaviors]). Veterinarian and client statements were classified by means of 3 patient-centered components: exploring both the disease and the illness experience, understanding the whole person, and finding common ground. 60 usable recorded discussions were obtained (31 veterinarians; 30 discussions/case). Overall, MPCC scores were significantly lower for the geriatric dog case. For both cases, veterinarians scored highest on finding common ground and lowest on exploring both the disease and the illness experience. Lack of exploration of client feelings, ideas, and expectations and the effect of the illness on the animal's function resulted in low scores among veterinarians. Results indicated that the use of USCs and the MPCC are feasible methods for analysis of veterinarian-client communication during companion animal euthanasia discussions. Findings suggested that some veterinarians do not fully explore client concerns or facilitate client involvement in euthanasia decision making.

Distinct features distinguishing IgG4-related disease from multicentric Castleman’s disease

PubMed Central

Sasaki, Takanori; Akiyama, Mitsuhiro; Kaneko, Yuko; Mori, Takehiko; Yasuoka, Hidekata; Suzuki, Katsuya; Yamaoka, Kunihiro; Okamoto, Shinichiro; Takeuchi, Tsutomu

2017-01-01

Objectives Differentiating IgG4-related disease (IgG4-RD) from multicentric Castleman’s disease (MCD) is challenging because both diseases present high serum IgG4. The objective of this study is to clarify the differences in characteristics and identify a clinically useful approach to differentiate these two diseases. Methods Forty-five consecutive patients with untreated active IgG4-RD and 33 patients with MCD were included in this study, who visited our institution from January 2000 to August 2016. The clinical and laboratory findings for the patients of the two diseases were compared. Various combinations of the distinctive findings were evaluated to identify the most efficient differentiating features between IgG4-RD and MCD. Results The levels of serum IgG4 were not different between the two diseases. Orbits, lacrimal glands, salivary glands or pancreas were involved in 88.9% of IgG4-RD cases and only in 3.0% of MCD cases. All MCD cases involved lymph nodes. Atopic history was characteristic for IgG4-RD. The levels of C reactive protein (CRP) with a cut-off of 0.80 mg/dL and IgA with a cut-off of 330 mg/dL were the most distinctive. The combination of ‘Orbits, lacrimal glands, salivary glands or pancreas involvement, atopic history, or non-involvement of lymph node’ and ‘CRP ≤ 0.8 mg/dL or IgA ≤ 330 mg/dL’ yielded the probability of 97.8% in IgG4-RD, while that of 3.0 % in patients with MCD. Conclusions Our study revealed distinct features between IgG4-RD and MCD. Differentiating between the diseases based on those distinct features, including distribution of organ involvement, atopic history, levels of IgA and CRP, was a useful approach. PMID:28959455

Are we diagnosing too many people with coeliac disease?

PubMed

Aziz, Imran; Sanders, David S

2012-11-01

This review will try to address the question of whether we are diagnosing too many people with coeliac disease. The key reasons for diagnosing coeliac disease may be that it is a common condition affecting up to 1% of the adult population. Delays in diagnosis are common. The average time delay reported by Coeliac UK (National Medical Patient Charity), for patients with symptoms prior to the diagnosis being made is 13 years. For every adult case detected, it is estimated that there are eight cases not detected. Patients with coeliac disease have an associated morbidity and mortality. In addition, quality of life studies suggest that the majority of patients benefit from a gluten-free diet (GFD). Furthermore, the GFD reduces or alleviates the risk of the associated complications. All of these facts could even be used to support the argument for screening! However, conversely the tests for coeliac disease are not 100% sensitive and specific. In addition, we do not know whether patients with milder symptoms will derive less benefit from treatment and are at less risk of complications. Furthermore, evidence presented in this review suggests that actual outcomes for screening studies in an adult population have revealed poor uptake and subsequently difficulties with adherence. What little published data that are available also infers that individuals recognised through screening programmes could have been detected if carefully questioned for symptoms. There is evidence to suggest that diagnosing celiac disease is cost-effective and that the diagnostic costs are offset by reduced medical expenditures, reduced hospital and general practice attendances, but this view depends on the population prevalence of coeliac disease. We believe on the basis of the evidence presented in this review that we are not diagnosing too many adults with coeliac disease. However, the authors consider case-finding with a low threshold for serological testing to be the optimal approach. If you look for coeliac disease you will find it.

Electronic health record systems in ophthalmology: impact on clinical documentation.

PubMed

Sanders, David S; Lattin, Daniel J; Read-Brown, Sarah; Tu, Daniel C; Wilson, David J; Hwang, Thomas S; Morrison, John C; Yackel, Thomas R; Chiang, Michael F

2013-09-01

To evaluate quantitative and qualitative differences in documentation of the ophthalmic examination between paper and electronic health record (EHR) systems. Comparative case series. One hundred fifty consecutive pairs of matched paper and EHR notes, documented by 3 attending ophthalmologist providers. An academic ophthalmology department implemented an EHR system in 2006. Database queries were performed to identify cases in which the same problems were documented by the same provider on different dates, using paper versus EHR methods. This was done for 50 consecutive pairs of examinations in 3 different diseases: age-related macular degeneration (AMD), glaucoma, and pigmented choroidal lesions (PCLs). Quantitative measures were used to compare completeness of documenting the complete ophthalmologic examination, as well as disease-specific critical findings using paper versus an EHR system. Qualitative differences in paper versus EHR documentation were illustrated by selecting representative paired examples. (1) Documentation score, defined as the number of examination elements recorded for the slit-lamp examination, fundus examination, and complete ophthalmologic examination and for critical clinical findings for each disease. (2) Paired comparison of qualitative differences in paper versus EHR documentation. For all 3 diseases (AMD, glaucoma, PCL), the number of complete examination findings recorded was significantly lower with paper than the EHR system (P ≤ 0.004). Among the 3 individual examination sections (general, slit lamp, fundus) for the 3 diseases, 5 of the 9 possible combinations had significantly lower mean documentation scores with paper than EHR notes. For 2 of the 3 diseases, the number of critical clinical findings recorded was significantly lower using paper versus EHR notes (P ≤ 0.022). All (150/150) paper notes relied on graphical representations using annotated hand-drawn sketches, whereas no (0/150) EHR notes contained drawings. Instead, the EHR systems documented clinical findings using textual descriptions and interpretations. There were quantitative and qualitative differences in the nature of paper versus EHR documentation of ophthalmic findings in this study. The EHR notes included more complete documentation of examination elements using structured textual descriptions and interpretations, whereas paper notes used graphical representations of findings. The author(s) have no proprietary or commercial interest in any materials discussed in this article. Copyright © 2013 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.

Identifying disease polymorphisms from case-control genetic association data.

PubMed

Park, L

2010-12-01

In case-control association studies, it is typical to observe several associated polymorphisms in a gene region. Often the most significantly associated polymorphism is considered to be the disease polymorphism; however, it is not clear whether it is the disease polymorphism or there is more than one disease polymorphism in the gene region. Currently, there is no method that can handle these problems based on the linkage disequilibrium (LD) relationship between polymorphisms. To distinguish real disease polymorphisms from markers in LD, a method that can detect disease polymorphisms in a gene region has been developed. Relying on the LD between polymorphisms in controls, the proposed method utilizes model-based likelihood ratio tests to find disease polymorphisms. This method shows reliable Type I and Type II error rates when sample sizes are large enough, and works better with re-sequenced data. Applying this method to fine mapping using re-sequencing or dense genotyping data would provide important information regarding the genetic architecture of complex traits.

Case definition for Ebola and Marburg haemorrhagic fevers: a complex challenge for epidemiologists and clinicians.

PubMed

Pittalis, Silvia; Fusco, Francesco Maria; Lanini, Simone; Nisii, Carla; Puro, Vincenzo; Lauria, Francesco Nicola; Ippolito, Giuseppe

2009-10-01

Viral haemorrhagic fevers (VHFs) represent a challenge for public health because of their epidemic potential, and their possible use as bioterrorism agents poses particular concern. In 1999 the World Health Organization (WHO) proposed a case definition for VHFs, subsequently adopted by other international institutions with the aim of early detection of initial cases/outbreaks in western countries. We applied this case definition to reports of Ebola and Marburg virus infections to estimate its sensitivity to detect cases of the disease. We analyzed clinical descriptions of 795 reported cases of Ebola haemorrhagic fever: only 58.5% of patients met the proposed case definition. A similar figure was obtained reviewing 169 cases of Marburg diseases, of which only 64.5% were in accordance with the case definition. In conclusion, the WHO case definition for hemorrhagic fevers is too specific and has poor sensitivity both for case finding during Ebola or Marburg outbreaks, and for early detection of suspected cases in western countries. It can lead to a hazardous number of false negatives and its use should be discouraged for early detection of cases.

Clinical manifestations and complications in 1028 cases of brucellosis: a retrospective evaluation and review of the literature.

PubMed

Buzgan, Turan; Karahocagil, Mustafa Kasim; Irmak, Hasan; Baran, Ali Irfan; Karsen, Hasan; Evirgen, Omer; Akdeniz, Hayrettin

2010-06-01

Brucellosis is the most prevalent bacterial zoonosis worldwide. In this study, we aimed to compare our 1028 brucellosis cases with other big series in the literature in view of epidemiological, clinical, and laboratory findings and therapeutic features. A total of 1028 brucellosis cases admitted to the Department of Infectious Diseases and Clinical Microbiology over a 10-year period were included in the study. A retrospective analysis was undertaken and patient files were reviewed for history, clinical and laboratory findings, and therapeutic features, as well as complications. Of the 1028 patients, 539 (52.4%) were female and 489 (47.6%) were male. The mean age of patients was 33.7+/-16.34 years and 69.6% of cases were aged 13-44 years. Four hundred and thirty-five cases (42.3%) had a history of raising livestock and 55.2% of the cases were found to have no occupational risk for brucellosis. Six hundred and fifty-four of the cases (63.6%) had a history of raw milk and dairy products consumption. The most frequently seen symptoms were arthralgia (73.7%) and fever (72.2%), while the most common clinical findings were fever (28.8%) and hepatomegaly (20.6%). The most frequent laboratory finding was a high C-reactive protein level (58.4%). The standard tube agglutination (STA) test+Coombs STA test was positive in 1016 cases (98.8%). Focal involvement was present in 371 (36.1%) cases. The most frequent involvement was osteoarticular involvement with 260 cases (25.3%). The overall relapse rate for patients with brucellosis was 4.7%. The highest relapse rate, 8.5%, was observed in the group of patients with osteoarticular involvement. Regimens including doxycycline and streptomycin with or without rifampin appeared more effective than other regimens in osteoarticular involvement. In humans, brucellosis may lead to serious morbidity, and it continues to be a major health problem in Turkey. There is no recommended treatment protocol for complicated brucellosis. Large multicenter studies are needed to determine the most appropriate treatment choices and durations in complicated brucellosis. Copyright 2009 International Society for Infectious Diseases. Published by Elsevier Ltd. All rights reserved.

Kikuchi's lymphadenitis. A morphologic analysis of 75 cases with special reference to unusual features.

PubMed

Tsang, W Y; Chan, J K; Ng, C S

1994-03-01

Seventy-five cases of Kikuchi's lymphadenitis, a self-limiting pseudomalignant condition, were reviewed to determine the spectrum of histologic findings. There were 55 females and 20 males; ages ranged from 9 to 57 years (mean, 25.5). Most patients presented with cervical lymphadenopathy (68 cases). Associated clinical findings were fever (20/52) and leukopenia (15/33). Serum antinuclear antibodies were negative in 15 patients among 16 tested. Among 32 patients with follow-up information, 31 remained well, including one who developed recurrence after 2 years. One patient died of fatal myocardial disease during the active disease. Histologically, the lymph nodes showed paracortical hyperplasia, often associated with a starry-sky appearance resulting from interspersed histiocytes and immunoblasts. The consistent finding was the presence of variable-sized discrete or confluent nodules in the paracortex composed of the following: (a) karyorrhectic and eosinophilic granular debris; (b) histiocytes, many of which were phagocytic and possessed distinctive peripherally placed crescentic nuclei and voluminous cytoplasm containing eosinophilic or karyorrhectic debris (for which we propose the designation crescentic histiocytes), mixed with nonphagocytic histiocytes having twisted or reniform nuclei which were often centrally placed; (c) plasmacytoid monocytes, which were medium-sized cells with eccentrically placed round nuclei and amphophilic cytoplasm; and (d) variable numbers of immunoblasts, which sometimes showed atypia such as irregular nuclear foldings and coarse chromatin. Neutrophils were absent or very sparse. In some nodules, coagulative necrosis was present in the center (45 cases). Foamy histiocytes were found in 23 cases, and they predominated in 11. Small clusters of plasmacytoid monocytes were noted in the paracortex in 40 cases. Perinodal inflammation was a common finding, and perinodal involvement by the karyorrhectic process occurred in 15 cases. In addition, we found a number of previously unreported features. Signet-ring histiocytes with clear or homogeneous lightly amphophilic cytoplasm and nuclei compressed into thin crescents, found in seven cases, could mimic signet-ring cell adenocarcinoma. In three cases, some germinal centers were involved by the karyorrhectic process. Foci of lymphocyte-depleted fibrovascular organization were present in eight cases, probably representing the resolving phase of the karyorrhectic process. Despite the broad morphologic spectrum, the intermingling of the distinctive crescentic histiocytes, karyorrhectic debris, and plasmacytoid monocytes in the form of nodules, together with the paucity of neutrophils, are the consistent findings that should permit a confident histologic diagnosis of Kikuchi's lymphadenitis.

Heterogeneity of Environments Associated with Transmission of Visceral Leishmaniasis in South-Eastern France and Implication for Control Strategies

PubMed Central

Faucher, Benoit; Gaudart, Jean; Faraut, Francoise; Pomares, Christelle; Mary, Charles; Marty, Pierre; Piarroux, Renaud

2012-01-01

Background Visceral leishmaniasis due to Leishmania infantum is currently spreading into new foci across Europe. Leishmania infantum transmission in the Old World was reported to be strongly associated with a few specific environments. Environmental changes due to global warming or human activity were therefore incriminated in the spread of the disease. However, comprehensive studies were lacking to reliably identify all the environments at risk and thereby optimize monitoring and control strategy. Methodology/Findings We exhaustively collected 328 cases of autochthonous visceral leishmaniasis from 1993 to 2009 in South-Eastern France. Leishmaniasis incidence decreased from 31 yearly cases between 1993 and 1997 to 12 yearly cases between 2005 and 2009 mostly because Leishmania/HIV coinfection were less frequent. No spread of human visceral leishmaniasis was observed in the studied region. Two major foci were identified, associated with opposite environments: whereas one involved semi-rural hillside environments partly made of mixed forests, the other involved urban and peri-urban areas in and around the region main town, Marseille. The two neighboring foci were related to differing environments despite similar vectors (P. perniciosus), canine reservoir, parasite (L. infantum zymodeme MON-1), and human host. Conclusions/Significance This unprecedented collection of cases highlighted the occurrence of protracted urban transmission of L. infantum in France, a worrisome finding as the disease is currently spreading in other areas around the Mediterranean. These results complete previous studies about more widespread canine leishmaniasis or human asymptomatic carriage. This first application of systematic geostatistical methods to European human visceral leishmaniasis demonstrated an unsuspected heterogeneity of environments associated with the transmission of the disease. These findings modify the current view of leishmaniasis epidemiology. They notably stress the need for locally defined control strategies and extensive monitoring including in urban environments. PMID:22880142

Eosinophilic esophagitis in an octogenarian

PubMed Central

Trifan, Anca; Stoica, Oana; Chihaia, Catalin-Alexandru; Danciu, Mihai; Stanciu, Carol; Singeap, Ana-Maria

2016-01-01

Abstract Introduction: Eosinophilic esophagitis (EoE) is a chronic, immune/antigen-mediated disease characterized clinically by symptoms related to esophageal dysfunction and histologically by a marked eosinophilic infiltrate in the esophageal mucosa. What was once considered a rare disease has nowadays become one of the most frequent esophageal diseases in the Western countries, occupying a place just next to the gastroesophageal reflux disease. EoE etiology and pathogenesis remain largely unknown, although most studies consider that allergic and genetic factors play the most important role. Methods: We report the case of EoE in an elderly male (octogenarian), giving a brief review of the current data related to epidemiology, pathogenesis, diagnosis, and treatment of the disease. Results: Dysphagia to solid foods was the leading symptom, and endoscopic findings included white exudates, longitudinal furrows, and concentric mucosal rings, all suggestive for EoE. Diagnosis relied on histological findings in esophageal mucosal biopsies (>30 eosinophils per high power field). He was treated with topical steroids for 8 weeks, symptoms improved gradually and the patient remained in remission at the 8-month follow-up. Conclusion: This case emphasizes that EoE may occur in very old patients and gastroenterologists should have a high index of suspicion of this disorder in any elderly with dysphagia and endoscopic relevant features. PMID:27741150

A Systematic Review of Changes in Marine Mammal Health in North America, 1972-2012: The Need for a Novel Integrated Approach

PubMed Central

Simeone, Claire A.

2015-01-01

Marine mammals are often cited as “sentinels of ocean health” yet accessible, synthesized data on their health changes that could effectively warn of ocean health changes are rare. The objectives of this study were to 1) perform a systematic review of published cases of marine mammal disease to determine spatial and temporal trends in disease from 1972–2012, including changes in regions and taxa affected and specific causes; and 2) compare numbers of published cases of neoplasia with known, hospital-based neoplasia records to explore the causes of discrepancy between numbers of published cases and true disease trends. Peer-reviewed literature was compiled, and data were collected from The Marine Mammal Center database in Sausalito, California for comparison of numbers of neoplasia cases. Toxicoses from harmful algal blooms appear to be increasing. Viral epidemics are most common along the Atlantic U.S. coastline, while bacterial epidemics, especially leptospirosis, are most common along the Pacific coast. Certain protozoal and fungal zoonoses appear to be emerging, such as Toxoplasma gondii in southern sea otters in California, and Cryptococcus gattii in cetaceans in the Pacific Northwest. Disease reports were most common from California where pinniped populations are large, but increased effort also occurs. Anthropogenic trauma remains a large threat to marine mammal health, through direct mortality and indirect chronic disease. Neoplasia cases were under-reported from 2003–2012 when compared to true number of cases, and over-reported in several years due to case duplication. Peer-reviewed literature greatly underestimates the true magnitude of disease in marine mammals as it focuses on novel findings, fails to reflect etiology of multifactorial diseases, rarely reports prevalence rather than simple numbers of cases, and is typically presented years after a disease first occurs. Thus literature cannot guide management actions adequately, nor inform indices of ocean health. A real-time, nationally centralized system for reporting marine mammal disease data is needed to be able to understand how marine mammal diseases are changing with ecosystem changes, and before these animals can truly be considered ‘sentinels of ocean health’. PMID:26579715

18-F-FDG PET-CT in Monitoring of Chemotherapeutic Effect in a Case of Metastatic Hepatic Epithelioid Hemangioendothelioma

PubMed Central

Shamim, Shamim Ahmed; Tripathy, Sarthak; Mukherjee, Anirban; Bal, Chandrasekhar; Roy, Shambo Guha

2017-01-01

Hepatic epithelioid hemangioendothelioma is a rare variant of mesenchymal tumor. Surgical resection or partial hepatectomy is the treatment of choice in the case of localized disease. However, in metastatic cases, chemotherapeutic drugs targeting the tyrosine kinase are being used. We hereby present 18-F-fludeoxyglucose positron emission tomography-computed tomography findings in a case of a 35-year old woman with metastatic HEHE showing significant response to Sorafenib therapy after 6 months. PMID:28680215

18-F-FDG PET-CT in Monitoring of Chemotherapeutic Effect in a Case of Metastatic Hepatic Epithelioid Hemangioendothelioma.

PubMed

Shamim, Shamim Ahmed; Tripathy, Sarthak; Mukherjee, Anirban; Bal, Chandrasekhar; Roy, Shambo Guha

2017-01-01

Hepatic epithelioid hemangioendothelioma is a rare variant of mesenchymal tumor. Surgical resection or partial hepatectomy is the treatment of choice in the case of localized disease. However, in metastatic cases, chemotherapeutic drugs targeting the tyrosine kinase are being used. We hereby present 18-F-fludeoxyglucose positron emission tomography-computed tomography findings in a case of a 35-year old woman with metastatic HEHE showing significant response to Sorafenib therapy after 6 months.

CT-Pathologic Correlation of Major Types of Pulmonary Fibrosis: Insights for Revisions to Current Guidelines.

PubMed

Chung, Jonathan H; Oldham, Justin M; Montner, Steven M; Vij, Rekha; Adegunsoye, Ayodeji; Husain, Aliya N; Noth, Imre; Lynch, David A; Strek, Mary E

2018-05-01

The purpose of this study was to assess the diagnostic significance of CT patterns that cannot be classified according to current idiopathic pulmonary fibrosis (IPF) guidelines and of specific findings of the inconsistent with usual interstitial pneumonitis (UIP) pattern. Subjects with a multidisciplinary diagnosis of interstitial lung disease who had undergone surgical lung biopsy and chest CT within 1 year of each other were included in the study. The predominant distribution and pattern of disease were scored. Cases were classified as UIP, possible UIP, or inconsistent with UIP at chest CT according to 2011 IPF guidelines. Cases that could not be confidently categorized with current guidelines were annotated as indeterminate. UIP, possible UIP, and inconsistent with UIP CT patterns were associated with pathologic UIP in 89.6%, 81.6%, and 60.0% of subjects. An indeterminate CT pattern (7.7% [20/259]) was associated with a UIP pathologic diagnosis in 55.0% of cases. This finding was not statistically different from the findings in the group with the inconsistent with UIP CT pattern (p = 0.677) but was different from the findings in the UIP (p < 0.001) and possible UIP (p = 0.031) groups. In regard to specific findings of the inconsistent with UIP CT category, ground-glass opacity, air-trapping, consolidation, and axial distribution were associated with a non-UIP pathologic diagnosis; however, there was no significant association with zonal distribution. A substantial minority of cases cannot be confidently categorized according to current guidelines for IPF and differ diagnostically from the possible UIP and UIP CT categories. The term "inconsistent with UIP" is misleading and should be renamed.

Areolar lymphocytoma in a child: A rare cutaneous presentation of borreliosis.

PubMed

Ogimi, Chikara; Crowell, Claudia; Boos, Markus D

2018-01-01

Lyme disease is a common tick-borne infection caused by Borrelia burgdorferi in the United States, where infection is most prevalent in the northeastern and mid-Atlantic states. Although classically associated with erythema migrans, Lyme disease caused by Borrelia species found in Europe may also present with other cutaneous findings. Here we report the case of a girl who was clinically diagnosed with Lyme disease based on her history of recent travel and the appearance of an areolar lymphocytoma; this was confirmed by testing. Testing for European Lyme disease does not follow the testing algorithm that the Centers for Disease Control and Prevention recommends and may be easily missed. Our case serves as an important reminder that common infections can have varying presentations depending on their region of acquisition and may require specialized testing for accurate diagnosis. © 2017 Wiley Periodicals, Inc.

Leptospirosis in Hawaii, USA, 1999-2008.

PubMed

Katz, Alan R; Buchholz, Arlene E; Hinson, Kialani; Park, Sarah Y; Effler, Paul V

2011-02-01

Although infrequently diagnosed in the United States, leptospirosis is a notable reemerging infectious disease throughout developing countries. Until 1995, when the disease was eliminated from the US list of nationally notifiable diseases, Hawaii led the nation in reported annual incidence rates. Leptospirosis remains a notifiable disease in Hawaii. To ascertain the status of leptospirosis in Hawaii since the most recent US report in 2002, we reviewed 1999-2008 data obtained from case investigation reports by the Hawaii State Department of Health. Of the 345 case reports related to in-state exposures, 198 (57%) were laboratory confirmed. Our findings indicate a change in seasonal disease occurrence from summer to winter and in the infective serogroup from Icterohemorrhagiae to Australis. Also, during the past 20 years, recreational exposures have plateaued, while occupational exposures have increased. Ongoing surveillance is needed to clarify and track the dynamic epidemiology of this widespread zoonosis.

Leptospirosis in Hawaii, USA, 1999–2008

PubMed Central

Buchholz, Arlene E.; Hinson, Kialani; Park, Sarah Y.; Effler, Paul V.

2011-01-01

Although infrequently diagnosed in the United States, leptospirosis is a notable reemerging infectious disease throughout developing countries. Until 1995, when the disease was eliminated from the US list of nationally notifiable diseases, Hawaii led the nation in reported annual incidence rates. Leptospirosis remains a notifiable disease in Hawaii. To ascertain the status of leptospirosis in Hawaii since the most recent US report in 2002, we reviewed 1999–2008 data obtained from case investigation reports by the Hawaii State Department of Health. Of the 345 case reports related to in-state exposures, 198 (57%) were laboratory confirmed. Our findings indicate a change in seasonal disease occurrence from summer to winter and in the infective serogroup from Icterohemorrhagiae to Australis. Also, during the past 20 years, recreational exposures have plateaued, while occupational exposures have increased. Ongoing surveillance is needed to clarify and track the dynamic epidemiology of this widespread zoonosis. PMID:21291592

Osteochondrosis of the inferior pole of the scapula (Roca disease).

PubMed

Skaf, Abdalla; Taneja, Atul K

2014-03-01

We report a rare case of osteochondrosis of the inferior pole of the scapula in a 14-year-old boy, an amateur swimmer, that was diagnosed by a combination of clinical and imaging findings. Also known as Roca disease, this is the first article to report this entity in the English literature and demonstrates its computerized tomography and MRI features.

Chronic Granulomatous Disease Due to Neutrophil Cytosolic Factor (NCF2) Gene Mutations in Three Unrelated Families.

PubMed

Vignesh, Pandiarajan; Rawat, Amit; Kumar, Ankur; Suri, Deepti; Gupta, Anju; Lau, Yu L; Chan, Koon W; Singh, Surjit

2017-02-01

Chronic granulomatous disease (CGD) is an inheritable and genetically heterogeneous disease resulting from mutations in different subcomponents of the NADPH oxidase system. Mutations in the NCF2 gene account for <5% of all cases of CGD. We analyzed the clinical and laboratory findings of CGD with mutations in the NCF2 gene from amongst our cohort of CGD patients. A homozygous mutation (c.835_836delAC, p.T279fsX294), a deletion in NCF2 gene was found in two cases. In the third case, two heterozygous mutations were detected, IVS13-2A>T on one allele and c.1099C>T (p.) on the other allele. The mother of this child was a carrier for the IVS13-2A>T mutation. All three cases had colitis, and it was the initial symptom in two patients. One of the patients also developed a lung abscess due to Nocardia cyriacigeorgica.

An unusual autopsy case of lethal hypothermia exacerbated by body lice-induced severe anemia.

PubMed

Nara, Akina; Nagai, Hisashi; Yamaguchi, Rutsuko; Makino, Yohsuke; Chiba, Fumiko; Yoshida, Ken-ichi; Yajima, Daisuke; Iwase, Hirotaro

2016-05-01

Pediculus humanus humanus (known as body lice) are commonly found in the folds of clothes, and can cause skin disorders when they feed on human blood, resulting in an itching sensation. Body lice are known as vectors of infectious diseases, including typhus, recurrent fever, and trench fever. An infestation with blood-sucking body lice induces severe cutaneous pruritus, and this skin disorder is known as "vagabond's disease." A body lice infestation is sometimes complicated with iron deficiency anemia. In the present case, a man in his late 70s died of lethal hypothermia in the outdoors during the winter season. The case history and autopsy findings revealed that the cause of the lethal hypothermia was iron deficiency anemia, which was associated with a prolonged infestation of blood-sucking body lice. Also, he had vagabond's disease because the skin on his body was abnormal and highly pigmented. This is an unusual autopsy case since the body lice contributed to the cause of the death.

Lumbosacral multiradiculopathy responsive to antibiotic therapy: description of four patients with lumbar spondylosis and a superimposed Lyme disease.

PubMed

Luigetti, Marco; Vollaro, Stefano; Corbetto, Marzia; Salomone, Gaetano; Dicuonzo, Giordano; Scoppettuolo, Giancarlo; Di Lazzaro, Vincenzo

2014-12-01

Lyme disease is a diffuse zoonosis caused by spirochaetes of the Borrelia burgdorferi species complex. Neurological manifestations of the disease, involving central or peripheral nervous system, are common. This study describes four consecutive patients with an MRI-proven lumbosacral spondylosis, who complained of progressive worsening of symptoms in the last months in which serological evaluation suggested a superimposed B. Burgdorferi infection. Four patients, all from the Lazio region, were admitted to the Department of Neurology. Extensive laboratory studies and clinical, anamnestic and neurophysiological evaluation were performed in all cases. In all cases, anamnesis revealed a previous diagnosis of lumbosacral foraminal stenosis. Clinical and neurophysiological findings were consistent with a lumbosacral multiradiculopathy. Considering serological evaluation suggestive of a superimposed B. burgdorferi infection a proper antibiotic therapy was started. All cases showed a marked improvement of symptoms. Clinicians should be aware that in all cases of lumbosacral multiradiculopathy, even if a mechanical cause is documented, B. burgdorferi may be a simply treatable condition.

Urethral polyp-like lesions on prostatic urethra caused by Chlamydia trachomatis infection: a case report.

PubMed

Muranaka, Takashi; Takahashi, Satoshi; Hirose, Takaoki; Hattori, Atsuo

2014-11-01

Urethral polyp is one of differential diagnoses for the male patients complain of gross-hematuria and/or hematospermia. However, there have been limited numbers of case reports including infectious etiology. Here we reported clinical course and pathological findings of one rare case who was diagnosed and treated as urethral polyp-like lesions on the prostatic urethra caused by Chlamydia trachomatis infection. A 25 year-old man who had a past history of frequent sexual intercourse with unspecified female sexual partner visited the clinic. His chief complaint was gross-hematuria and hematospermia. Endoscopic findings showed that non-specific hemorrhagic polyp-like lesions. To determine the pathological findings including malignant diseases and diagnosis, transurethral resection was performed. Because the pathological findings were similar to those of chlamydial proctitis, additional examination was done. As the results, nucleic acid amplification test of C. trachomatis in urine specimen was positive and immunohistochemical staining of specific chlamydia antigen in resected specimen was also positive. Treatment by orally minocyline 100 mg twice daily for 4 weeks was introduced. After the treatment, symptom was disappeared and nucleic acid amplification test of C. trachomatis in urine specimen turned to be negative. No recurrence was reported 2 years posttreatment. Copyright © 2014 Japanese Society of Chemotherapy and The Japanese Association for Infectious Diseases. Published by Elsevier Ltd. All rights reserved.

Heterologous Infection During Chagas' Disease

NASA Astrophysics Data System (ADS)

Sibona, G. J.; Condat, C. A.; Cossi Isasi, S.

2007-05-01

Human populations are often infected with more than one parasite strain. This is frequently the case with ChagasŠ disease, which is endemic to large regions of Latin America. In the present work we study the dynamics of the heterologous infection for this disease, using a model for the interaction between the trypanosoma cruzi parasite and the immune system. We find the dependence of the nature of the post-acute stage on the parameters characterizing the inoculated infectious strains.

Conservation, development and the management of infectious disease: avian influenza in China, 2004-2012.

PubMed

Wu, Tong; Perrings, Charles

2017-06-05

There is growing evidence that wildlife conservation measures have mixed effects on the emergence and spread of zoonotic disease. Wildlife conservation has been found to have both positive (dilution) and negative (contagion) effects. In the case of avian influenza H5N1 in China, the focus has been on negative effects. Lakes and wetlands attracting migrating waterfowl have been argued to be disease hotspots. We consider the implications of waterfowl conservation for H5N1 infections in both poultry and humans between 2004 and 2012. We model both environmental and economic risk factors. Environmental risk factors comprise the conditions that structure interaction between wild and domesticated birds. Economic risk factors comprise the cost of disease, biosecurity measures and disease risk mitigation. We find that H5N1 outbreaks in poultry populations are indeed sensitive to the existence of wild-domesticated bird mixing zones, but not in the way we would expect from the literature. We find that risk is decreasing in protected migratory bird habitat. Since the number of human cases is increasing in the number of poultry outbreaks, as expected, the implication is that the protection of wetlands important for migratory birds offers unexpected human health benefits.This article is part of the themed issue 'Conservation, biodiversity and infectious disease: scientific evidence and policy implications'. © 2017 The Author(s).

Pandemic (H1N1) 2009: clinical and laboratory findings of the first fifty cases in Singapore.

PubMed

Chan, Monica; Chen, Mark I; Chow, Angela; Lee, Caroline P S; Tan, Adriana S H; Lye, David Chien; Leo, Yee Sin

2010-04-01

Since the fi rst imported case on 26 May 2009, pandemic (H1N1) 2009 has spread from travellers and has resulted in sustained community transmission. Singapore began with a strict containment policy where all suspected and confirmed cases of pandemic (H1N1) 2009 were admitted for testing. We describe here the clinical and laboratory characteristics of the fi rst 50 adult cases with confirmed pandemic (H1N1) 2009. A review was conducted of medical notes of adult patients with confirmed pandemic (H1N1) 2009 by polymerase chain reaction assay from combined nasal and throat swabs admitted to the Communicable Disease Centre, Tan Tock Seng Hospital. From 26 May to 18 June 2009, 50 patients with a median age of 27 years old were admitted at a median of 3 days from illness onset. Half were male and all were travellers arriving in Singapore. Non-Singaporean citizens (38%) and other ethnic groups (40%) were over-represented. History of fever was reported in 90% and respiratory symptoms in 92%. Gastrointestinal symptoms were uncommon, present in 4% only. Temperatures on presentation of >or=38.0 degrees C, >or=37.8 degrees C and >or=37.5 degrees C were present in 48%, 56% and 76%, respectively. Only 46% of patients met the United States Centers for Disease Control and Prevention (US CDC) case definition of influenza-like illness (ILI). Clinical and laboratory findings were unremarkable for the majority. All cases were treated with oseltamivir and had uncomplicated recovery. Pandemic (H1N1) 2009 had mild clinical and laboratory findings in immunocompetent patients. Use of the US CDC ILI criteria alone would have detected less than half of confirmed cases.

Spectrum of Imaging Findings in Paget's Disease of the Breast-A Pictorial Review.

PubMed

Sripathi, Smiti; Ayachit, Anurag; Kadavigere, Rajagopal; Kumar, Sandeep; Eleti, Asha; Sraj, Aron

2015-08-01

We aimed to demonstrate imaging features of Paget's disease of breast, which is an extremely uncommon malignancy that presents with changes in the nipple-areolar region that may or may not be associated with an underlying in situ component or invasive cancer. Mammography is the initial investigation of choice, having a high sensitivity especially in cases where a palpable mass is present. The addition of ultrasound improves the accuracy of mammography. When both mammography and ultrasound are negative, MRI may detect an underlying mass or ductal carcinoma in situ (DCIS). The surgical management of Paget's disease includes mastectomy with or without axillary dissection, though breast conservation surgery in the form of wide local excision can also be done in a selected group of patients. Management should be based on both clinical and imaging findings, including mammography and ultrasound, with MRI playing a crucial role in defining the extent of involvement. Teaching Points • To differentiate Paget's disease from other chronic skin conditions. • Mammographic and ultrasound findings of histopathologically established Paget's disease. • When ultrasound and mammogram are negative, MRI may detect underlying malignancy.

Calf enlargement associated with neurologic disease: two uncommon cases.

PubMed

Harwood, S C; Honet, J C

1988-01-01

Muscle enlargement and hypertrophy are rare findings in neurogenic lesions. The two in combination have been reported in cases of peripheral nerve lesions, polyneuropathy, and poliomyelitis. True and pseudo muscle hypertrophy are the two possible etiologies, whereas infiltration, stretch, or exercise of the muscle are the causative factors. We report two cases of unilateral calf enlargement, one occurring after surgery for S1 radiculopathy with associated cramping, and the other after poliomyelitis.

FindZebra: a search engine for rare diseases.

PubMed

Dragusin, Radu; Petcu, Paula; Lioma, Christina; Larsen, Birger; Jørgensen, Henrik L; Cox, Ingemar J; Hansen, Lars Kai; Ingwersen, Peter; Winther, Ole

2013-06-01

The web has become a primary information resource about illnesses and treatments for both medical and non-medical users. Standard web search is by far the most common interface to this information. It is therefore of interest to find out how well web search engines work for diagnostic queries and what factors contribute to successes and failures. Among diseases, rare (or orphan) diseases represent an especially challenging and thus interesting class to diagnose as each is rare, diverse in symptoms and usually has scattered resources associated with it. We design an evaluation approach for web search engines for rare disease diagnosis which includes 56 real life diagnostic cases, performance measures, information resources and guidelines for customising Google Search to this task. In addition, we introduce FindZebra, a specialized (vertical) rare disease search engine. FindZebra is powered by open source search technology and uses curated freely available online medical information. FindZebra outperforms Google Search in both default set-up and customised to the resources used by FindZebra. We extend FindZebra with specialized functionalities exploiting medical ontological information and UMLS medical concepts to demonstrate different ways of displaying the retrieved results to medical experts. Our results indicate that a specialized search engine can improve the diagnostic quality without compromising the ease of use of the currently widely popular standard web search. The proposed evaluation approach can be valuable for future development and benchmarking. The FindZebra search engine is available at http://www.findzebra.com/. Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.

Eastern equine encephalitis--New Hampshire and Massachusetts, August-September 2005.

PubMed

2006-06-30

During August-September 2005, the New Hampshire Department of Health and Human Services reported seven cases of human eastern equine encephalitis virus (EEEV) disease, the first laboratory-confirmed, locally acquired cases of human EEEV disease reported from New Hampshire in 41 years of national surveillance. Also during August--September 2005, the Massachusetts Department of Public Health reported four cases of human EEEV disease, five times the annual average of 0.8 cases reported from Massachusetts during the preceding 10 years. Four of the 11 patients from New Hampshire and Massachusetts died. EEEV is transmitted in marshes and swamps in an enzootic bird-mosquito-bird cycle primarily by the mosquito Culiseta melanura. Bridge mosquito vectors (e.g., Coquillettidia perturbans, Aedes vexans, or Aedes sollicitans) transmit EEEV to humans and other mammals. This report summarizes the investigations of cases in New Hampshire and Massachusetts conducted by the two state health departments and CDC. The findings underscore the importance of surveillance for, and diagnostic consideration of, arboviral encephalitis in the United States and promotion of preventive measures such as local mosquito control and use of insect repellent.

A computer-aided diagnostic system for kidney disease

PubMed Central

Jahantigh, Farzad Firouzi; Malmir, Behnam; Avilaq, Behzad Aslani

2017-01-01

Background Disease diagnosis is complicated since patients may demonstrate similar symptoms but physician may diagnose different diseases. There are a few number of investigations aimed to create a fuzzy expert system, as a computer aided system for disease diagnosis. Methods In this research, a cross-sectional descriptive study conducted in a kidney clinic in Tehran, Iran in 2012. Medical diagnosis fuzzy rules applied, and a set of symptoms related to the set of considered diseases defined. The input case to be diagnosed defined by assigning a fuzzy value to each symptom and then three physicians asked about each suspected diseases. Then comments of those three physicians summarized for each disease. The fuzzy inference applied to obtain a decision fuzzy set for each disease, and crisp decision values attained to determine the certainty of existence for each disease. Results Results indicated that, in the diagnosis of seven cases of kidney disease by examining 21 indicators using fuzzy expert system, kidney stone disease with 63% certainty was the most probable, renal tubular was at the lowest level with 15%, and other kidney diseases were at the other levels. The most remarkable finding of this study was that results of kidney disease diagnosis (e.g., kidney stone) via fuzzy expert system were fully compatible with those of kidney physicians. Conclusion The proposed fuzzy expert system is a valid, reliable, and flexible instrument to diagnose several typical input cases. The developed system decreases the effort of initial physical checking and manual feeding of input symptoms. PMID:28392995

A computer-aided diagnostic system for kidney disease.

PubMed

Jahantigh, Farzad Firouzi; Malmir, Behnam; Avilaq, Behzad Aslani

2017-03-01

Disease diagnosis is complicated since patients may demonstrate similar symptoms but physician may diagnose different diseases. There are a few number of investigations aimed to create a fuzzy expert system, as a computer aided system for disease diagnosis. In this research, a cross-sectional descriptive study conducted in a kidney clinic in Tehran, Iran in 2012. Medical diagnosis fuzzy rules applied, and a set of symptoms related to the set of considered diseases defined. The input case to be diagnosed defined by assigning a fuzzy value to each symptom and then three physicians asked about each suspected diseases. Then comments of those three physicians summarized for each disease. The fuzzy inference applied to obtain a decision fuzzy set for each disease, and crisp decision values attained to determine the certainty of existence for each disease. Results indicated that, in the diagnosis of seven cases of kidney disease by examining 21 indicators using fuzzy expert system, kidney stone disease with 63% certainty was the most probable, renal tubular was at the lowest level with 15%, and other kidney diseases were at the other levels. The most remarkable finding of this study was that results of kidney disease diagnosis (e.g., kidney stone) via fuzzy expert system were fully compatible with those of kidney physicians. The proposed fuzzy expert system is a valid, reliable, and flexible instrument to diagnose several typical input cases. The developed system decreases the effort of initial physical checking and manual feeding of input symptoms.

Lymphogranuloma venereum proctosigmoiditis is a mimicker of inflammatory bowel disease.

PubMed

Gallegos, Marlene; Bradly, Dawn; Jakate, Shriram; Keshavarzian, Ali

2012-07-07

There has been an increasing prevalence of lymphogranuloma venereum (LGV) or Chlamydia trachomatis (C. trachomatis) cases among the men who have sex with men (MSM) population, particularly in Europe and North America. These cases may present with an incomplete or undisclosed history and proctosigmoiditis without characteristic adenopathy syndrome. During the initial evaluation and colonoscopy, there is a strong clinical and endoscopic suspicion of inflammatory bowel disease (IBD) by virtue of presentation and endoscopic and histological findings. The diagnosis of IBD is subsequently modified to LGV proctosigmoiditis when one or more of the following transpire: (1) there is failure of response to IBD therapy; (2) additional components of history (MSM/travel) may be identified; (3) return of initially performed Chlamydia antibody test is positive; and (4) response to antibiotics effective against Chlamydia. We describe three such cases initially suspected to be an inflammatory bowel disease and subsequently identified as C. trachomatis proctosigmoiditis.

Lymphogranuloma venereum proctosigmoiditis is a mimicker of inflammatory bowel disease

PubMed Central

Gallegos, Marlene; Bradly, Dawn; Jakate, Shriram; Keshavarzian, Ali

2012-01-01

There has been an increasing prevalence of lymphogranuloma venereum (LGV) or Chlamydia trachomatis (C. trachomatis) cases among the men who have sex with men (MSM) population, particularly in Europe and North America. These cases may present with an incomplete or undisclosed history and proctosigmoiditis without characteristic adenopathy syndrome. During the initial evaluation and colonoscopy, there is a strong clinical and endoscopic suspicion of inflammatory bowel disease (IBD) by virtue of presentation and endoscopic and histological findings. The diagnosis of IBD is subsequently modified to LGV proctosigmoiditis when one or more of the following transpire: (1) there is failure of response to IBD therapy; (2) additional components of history (MSM/travel) may be identified; (3) return of initially performed Chlamydia antibody test is positive; and (4) response to antibiotics effective against Chlamydia. We describe three such cases initially suspected to be an inflammatory bowel disease and subsequently identified as C. trachomatis proctosigmoiditis. PMID:22783058

R&D in Vaccines Targeting Neglected Diseases: An Exploratory Case Study Considering Funding for Preventive Tuberculosis Vaccine Development from 2007 to 2014

PubMed Central

Costa Barbosa Bessa, Theolis; Santos de Aragão, Erika; Medeiros Guimarães, Jane Mary

2017-01-01

Based on an exploratory case study regarding the types of institutions funding the research and development to obtain new tuberculosis vaccines, this article intends to provoke discussion regarding the provision of new vaccines targeting neglected disease. Although our findings and discussion are mainly relevant to the case presented here, some aspects are more generally applicable, especially regarding the dynamics of development in vaccines to prevent neglected diseases. Taking into account the dynamics of innovation currently seen at work in the vaccine sector, a highly concentrated market dominated by few multinational pharmaceutical companies, we feel that global PDP models can play an important role throughout the vaccine development cycle. In addition, the authors call attention to issues surrounding the coordination of actors and resources in the research, development, manufacturing, and distribution processes of vaccine products arising from PDP involvement. PMID:28133608

A severe case of Legionnaire's disease connected to the BBC outbreak in 1988.

PubMed

Richards, N C; McKinley, K P

1989-01-01

On 1 May 1988 a senior Naval Officer, serving at HMS Warrior, was admitted to RAF Halton where a diagnosis of Legionnaire's disease was made. He suffered severe pneumonia and neurological symptoms, and although he eventually responded to treatment, he still suffers sequelae. On 19 April, he was in the vicinity of the BBC at the time of the outbreak of Legionnaire's disease. His clinical findings are reported in this article along with a brief history and discussion of the diagnosis and prevention of Legionnaire's disease.

Appendiceal hemorrhage -- an uncommon cause of lower gastrointestinal bleeding.

PubMed

Chiang, Ching-Chung; Tu, Chi-Wen; Liao, Chi-Szu; Shieh, Min-Chieh; Sung, Tien-Chou

2011-06-01

Lower gastrointestinal bleeding is a common disease among elderly patients. The common sources of lower gastrointestinal bleeding include vascular disease, Crohn's disease, neoplasms, inflammatory bowel disease, hemorrhoids, and ischemic colitis. Lower gastrointestinal bleeding arising from the appendix is an extremely rare condition. We report a case of appendiceal hemorrhage in a young male. Diagnosis was made by multidetector computerized tomography during survey for hematochezia. The patient recovered well after appendectomy. The histological finding revealed focal erosion of appendix mucosa with bleeding. Copyright © 2011. Published by Elsevier B.V.

Epstein-Barr virus-positive diffuse large B-cell lymphoma in children: a disease reminiscent of Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly.

PubMed

Uccini, Stefania; Al-Jadiry, Mazin F; Scarpino, Stefania; Ferraro, Daniela; Alsaadawi, Adel R; Al-Darraji, Amir F; Moleti, Maria Luisa; Testi, Anna Maria; Al-Hadad, Salma A; Ruco, Luigi

2015-05-01

Pediatric Epstein-Barr virus (EBV)-positive diffuse large B-cell lymphoma (EBV+ DLBCL) is a rare disease in nonimmunocompromised hosts. In a review of 231 cases of malignant lymphoma (87 Hodgkin lymphoma and 144 non-Hodgkin lymphoma) occurring in Iraqi children, 7 cases (5% of NHLs) were classified as EBV+ DLBCL. Six children presented with nodal disease, and 1 presented with extranodal localization (bone). In all cases, the disease was at an advanced clinical stage (III/IV). Evidence of immunodeficiency (Evans syndrome and selective IgA deficiency) was observed in a single case. Two cases were "monomorphic" with immunoblastic histology, and 5 cases were "polymorphic" with histologic aspects reminiscent of nodular lymphocyte-predominant Hodgkin lymphoma (2 cases) and of CD30+ classical Hodgkin lymphoma (3 cases). In all cases, tumor cells were EBV infected (EBER+/LMP-1+), were medium-large B-cells (CD20+/CD79a+/PAX-5+/BOB-1+/OCT-2+) of non-germinal center (non-GC) origin (CD10-/MUM-1+), and had high proliferative activity (50%-70%). Chromosomal translocations involving BCL2, MYC, and IGH genes were not observed. IGH monoclonality could be demonstrated in 3 of 3 investigated cases. Six cases of EBV-negative DLBCL (4% of NHL) were present in the same series. All had monomorphic histology with centroblastic/immunoblastic morphology; 3 cases were of GC type and 3 of non-GC type. Our findings indicate that in Iraq, DLBCLs are 9% of NHLs. Moreover, 2 different types of the disease do exist; the EBV-positive cases, with strong histologic and immunohistochemical resemblance with EBV+ DLBCL of the elderly, and the EBV-negative cases, which are similar to the pediatric DLBCL usually observed in Western populations. Copyright © 2015 Elsevier Inc. All rights reserved.

Pulmonary toxocariasis: a case report and literature review.

PubMed

Ranasuriya, G; Mian, A; Boujaoude, Z; Tsigrelis, C

2014-06-01

Toxocariasis is a parasitic disease caused by Toxocara canis or T. cati. We report a patient with toxocariasis who presented with dyspnea, high-grade eosinophilia, and bilateral pulmonary nodules. To further characterize the pulmonary manifestations of toxocariasis, we have reviewed 11 previously published pulmonary toxocariasis cases. The most common pulmonary symptoms in our review were cough and dyspnea, and the most common finding on chest imaging was bilateral pulmonary nodules. Risk factors for Toxocara infection primarily included exposure to dogs. Most patients received albendazole and responded well. A high index of suspicion is needed to diagnose this otherwise preventable parasitic disease.

[Cat-scratch disease with bone compromise: atypical manifestation].

PubMed

Rodríguez C, Magdalena; Giachetto L, Gustavo; Cuneo E, Alejandro; Gutiérrez B, María del C; Shimchack R, Mario; Pírez G, M Catalina

2009-08-01

Fever, headache, myalgias and lymphadenopathy are characteristic manifestations of cat-scratch disease but other less common findings are described in 2 to 10% of cases. We report two children that presented with hepatosplenic abscesses and bone involvement. One child, had multiple areas of increased uptake in the bone scintigram with a positive serology (IgG > 1/256, IgM slightly positive). The second child had destruction of the L2 vertebral body that compromised the channel and right foramen as visualized by MRI. In both cases, bacilli were observed in the bone biopsy by Warthing-Starry stain.

Eosinophilic Gastroenteritis: Case Report and Review in Search for Diagnostic Key Points

PubMed Central

López-Medina, Guillermo; Gallo, Manuel; Prado, Alejandro; Vicuña-Honorato, Iliana; Castillo Díaz de León, Roxana

2015-01-01

Eosinophilic gastroenteritis is considered an uncommon disease with a low incidence rate that remains as a diagnostic challenge for the clinician, in spite of the fact that seventy years have passed since its original description. Hereby we present the case of a 29-year-old male without history of allergies who was evaluated for unspecific gastrointestinal symptoms, without relevant findings on physical examination and presenting an initial complete blood count (CBC) with severe eosinophilia. The patient was evaluated and the diagnosis of eosinophilic gastroenteritis was confirmed by histopathological findings. The relevance of the case resides in highlighting the lack of guidelines or consensus for histological diagnosis being virtually the only one available. To a similar extent, treatment evidence is based on case series with a reasonable number of patients and case reports. PMID:26075112

Toxocariasis-associated cardiac diseases--A systematic review of the literature.

PubMed

Kuenzli, Esther; Neumayr, Andreas; Chaney, Matthew; Blum, Johannes

2016-02-01

Toxocariasis, caused by Toxocara canis or Toxocara catis, is a worldwide occurring parasitic disease, reaching high prevalences especially in tropical and subtropical countries. The clinical presentation can range from asymptomatic seropositivity to life threatenting disease, depending on the organ system involved. Cardiac involvement, one of the possible manifestations of human Toxocara spp. infection, is rarely reported in case reports. As far as we know, no systematic reviews of clinical presentations have been published till now and no clear recommendations regarding the treatment of Toxocara spp. infection involving the heart exist. In a systematic review of the literature, 24 published cases of Toxocara spp. infection involving the heart were identified. The cardiac entities described included myocarditis, pericarditis, and Loeffler's endocarditis. The clinical presentation ranged from asymptomatic or mild disease to life threatening myocarditis/pericarditis with heart failure or cardiac tamponade, leading to death. In most cases, the diagnosis was based on a combination of clinical, laboratory and radiological findings. Only in three of the nine cases in which histological analysis was performed (either pre- or post-mortem), granulomas or remnants of the parasite were detected. In the other six cases, findings were non-specific; the damage of the heart was equally caused by direct invasion of the larvae and by immunological reactions, either caused by the systemic hypereosinophilia or by the presence of the larvae in the tissue. The treatment regimen described mostly consisted of anthelmintic drugs in combination with corticosteroids. Even though dosage and duration of treatment varied widely, ranging from days to months, most patients were treated successfully. Cardiac involvement in Toxocara spp. infection is a rare but potentially life-threatening complication of a very common disease. The therapeutic regimens vary widely especially with regard to the duration of therapy, however, the combination of an anthelmintic drug and a corticosteroid appears to be a valuable option. For the daily clinical work, tissue manifestation by parasites should be considered in cases of unspecific organ manifestations, (i.e. heart, lungs, liver), accompanied by fever and eosinophilia with or without allergic skin rashes. Copyright © 2015 Elsevier B.V. All rights reserved.

Enhanced tuberculosis case finding through advocacy and sensitisation meetings in prisons of Central India

PubMed Central

Mallick, G.; Agrawal, T. K.; Kumar, A. M. V.; Chadha, S. S.

2017-01-01

Tuberculosis (TB) in prisons is a major problem. The prisons in Chhattisgarh, India, are overcrowded, and there are no formal efforts to engage them in TB control. In 2014, the International Union Against Tuberculosis and Lung Disease and the state TB programme advocated with state prison authorities to implement an enhanced case-finding strategy in the prisons. Sensitisation meetings (one/quarter/prison) to improve awareness among prisoners about TB symptoms and services were coupled with improved access to diagnosis. Patients with presumptive TB who were examined by sputum microscopy increased by 39% per 100 000 prisoners, and TB case notification rates increased by 38%, in 2014 relative to 2013. PMID:28775946

Imaging findings in a case of Gorlin-Goltz syndrome: a survey using advanced modalities

PubMed Central

Shakibafar, Ali Reza; Houshyar, Maneli; Nafarzade, Shima

2011-01-01

Gorlin-Goltz syndrome is an infrequent multi-systemic disease which is characterized by multiple keratocysts in the jaws, calcification of falx cerebri, and basal cell carcinomas. We report a case of Gorlin-Goltz syndrome in a 23-year-old man with emphasis on image findings of keratocyctic odontogenic tumors (KCOTs) on panoramic radiograph, computed tomography, magnetic resonance (MR) imaging, and Ultrasonography (US). In this case, pericoronal lesions were mostly orthokeratinized odontogenic cyst (OOC) concerning the MR and US study, which tended to recur less. The aim of this report was to clarify the characteristic imaging features of the syndrome-related keratocysts that can be used to differentiate KCOT from OOC. Also, our findings suggested that the recurrence rate of KCOTs might be predicted based on their association to teeth. PMID:22232727

Canine parvovirus in Australia: the role of socio-economic factors in disease clusters.

PubMed

Brady, S; Norris, J M; Kelman, M; Ward, M P

2012-08-01

To identify clusters of canine parvoviral related disease occurring in Australia during 2010 and investigate the role of socio-economic factors contributing to these clusters, reported cases of canine parvovirus were extracted from an on-line disease surveillance system. Reported residential postcode was used to locate cases, and clusters were identified using a scan statistic. Cases included in clusters were compared to those not included in such clusters with respect to human socioeconomic factors (postcode area relative socioeconomic disadvantage, economic resources, education and occupation) and dog factors (neuter status, breed, age, gender, vaccination status). During 2010, there were 1187 cases of canine parvovirus reported. Nineteen significant (P<0.05) disease clusters were identified, most commonly located in New South Wales. Eleven (58%) clusters occurred between April and July, and the average cluster length was 5.7 days. All clusters occurred in postcodes with a significantly (P<0.05) greater level of relative socioeconomic disadvantage and a lower rank in education and occupation, and it was noted that clustered cases were less likely to have been neutered (P=0.004). No significant difference (P>0.05) was found between cases reported from cluster postcodes and those not within clusters for dog age, gender, breed or vaccination status (although the latter needs to be interpreted with caution, since vaccination was absent in most of the cases). Further research is required to investigate the apparent association between indicators of poor socioeconomic status and clusters of reported canine parvovirus diseases; however these initial findings may be useful for developing geographically- and temporally-targeted prevention and disease control programs. Copyright © 2012 Elsevier Ltd. All rights reserved.

Argyrophilic grain disease as a neurodegenerative substrate in late-onset schizophrenia and delusional disorders.

PubMed

Nagao, Shigeto; Yokota, Osamu; Ikeda, Chikako; Takeda, Naoya; Ishizu, Hideki; Kuroda, Shigetoshi; Sudo, Koichiro; Terada, Seishi; Murayama, Shigeo; Uchitomi, Yosuke

2014-06-01

To study the relationship between neurodegenerative diseases including argyrophilic grain disease (AGD) and late-onset schizophrenia and delusional disorders (LOSD; onset ≥40 years of age), we pathologically examined 23 patients with LOSD, 71 age-matched normal controls, and 22 psychiatric disease controls (11 depression, six personality disorder, two bipolar disorders, and three neurotic disorders cases). In all LOSD cases (compared to age-matched normal controls), the frequencies of Lewy body disease (LBD), AGD, and corticobasal degeneration (CBD) were 26.1 % (11.3 %), 21.7 % (8.5 %), and 4.3 % (0.0 %), respectively. There was no case of pure Alzheimer's disease (AD). The total frequency of LBD, AGD, and CBD was significantly higher in LOSD cases than in normal controls. Argyrophilic grains were significantly more severe in LOSD than in controls, but were almost completely restricted to the limbic system and adjacent temporal cortex. In LOSD patients whose onset occurred at ≥65 years of age (versus age-matched normal controls), the frequencies of LBD and AGD were 36.4 % (19.4 %) and 36.4 % (8.3 %), respectively, and AGD was significantly more frequent in LOSD patients than in normal controls. In LOSD patients whose onset occurred at <65 years of age, the frequencies of LBD, AGD, and CBD were 16.7, 8.3, and 8.3 %, comparable to those of age-matched normal controls (10.2, 5.1, and 0.0 %). In all psychiatric cases, delusion was significantly more frequent in AGD cases than in cases bearing minimal AD pathology alone. Given these findings, LOSD patients may have heterogeneous pathological backgrounds, and AGD may be associated with the occurrence of LOSD especially after 65 years of age.

Major childhood infectious diseases and other determinants associated with type 1 diabetes: a case-control study.

PubMed

Tenconi, M T; Devoti, G; Comelli, M; Pinon, M; Capocchiano, A; Calcaterra, V; Pretti, G

2007-03-01

The objective of the study was to evaluate the association between infectious diseases and other events pertaining to childhood medical history and type 1 diabetes. A case-control study was carried out, taking as cases 159 type 1 diabetic patients (0-29 years) recorded from 1988 to 2000 within the population registry of the Pavia province (North Italy). As controls 318 non-diabetic subjects were matched by age and sex. A questionnaire was administered by standardised interviewers. Data were analysed by conditional logistic regression. Viral childhood diseases (OR 4.29; 95%CI 1.57-11.74) and bottle feeding (OR 1.83; 95%CI 1.08-3.09) were directly correlated to type 1 diabetes; an inverse correlation was found for vitamin D administration during lactation (0-14 years) (OR 0.31; 95%CI 0.11-0.86) and for history of scarlet fever in both sexes and age groups (OR 0.19; 95%CI 0.08-0.46). Most associations of the studied variables confirm already known findings. The significant inverse correlation of type 1 diabetes with scarlet fever history is a peculiar finding, the meaning of which is still obscure, although it has been recently described that streptococcal A infections are regulated by HLA class II alleles.

AMERICAN ASSOCIATION OF CLINICAL ENDOCRINOLOGISTS AND AMERICAN COLLEGE OF ENDOCRINOLOGY POSITION STATEMENT ON THYROID DYSFUNCTION CASE FINDING.

PubMed

Hennessey, James V; Garber, Jeffrey R; Woeber, Kenneth A; Cobin, Rhoda; Klein, Irwin

2016-02-01

Hypothyroidism and hyperthyroidism can be readily diagnosed and can be treated in a safe, cost-effective manner. Professional organizations have given guidance on how and when to employ thyroid-stimulating hormone testing for the detection of thyroid dysfunction. Most recently, the United States Preventive Services Task Force did not endorse screening for thyroid dysfunction based on a lack of proven benefit and potential harm of treating those with thyroid dysfunction, which is mostly subclinical disease. The American Association of Clinical Endocrinologists (AACE) is concerned that this may discourage physicians from testing for thyroid dysfunction when clinically appropriate. Given the lack of specificity of thyroid-associated symptoms, the appropriate diagnosis of thyroid disease requires biochemical confirmation. The Thyroid Scientific Committee of the AACE has produced this White Paper to highlight the important difference between screening and case-based testing in the practice of clinical medicine. We recommend that thyroid dysfunction should be frequently considered as a potential etiology for many of the nonspecific complaints that physicians face daily. The application and success of safe and effective interventions are dependent on an accurate diagnosis. We, therefore, advocate for an aggressive case-finding approach, based on identifying those persons most likely to have thyroid disease that will benefit from its treatment.

Proteinase-activated receptor 2 and disease biomarkers in cerebrospinal fluid in cases with autopsy-confirmed prion diseases and other neurodegenerative diseases.

PubMed

Rohan, Zdenek; Smetakova, Magdalena; Kukal, Jaromir; Rusina, Robert; Matej, Radoslav

2015-03-31

Proteinase-activated receptor 2 (PAR-2) has been shown to promote both neurotoxic and neuroprotective effects. Similarly, other routinely used nonspecific markers of neuronal damage can be found in cerebrospinal fluid (CSF) and can be used as biomarkers for different neurodegenerative disorders. Using enzyme-linked immunosorbent assays and western blotting we assessed PAR-2, total-tau, phospho-tau, beta-amyloid levels, and protein 14-3-3 in the CSF of former patients who had undergone a neuropathological autopsy after death and who had been definitively diagnosed with a prion or other neurodegenerative disease. We did not find any significant correlation between levels of PAR-2 and other biomarkers, nor did we find any differences in PAR-2 levels between prion diseases and other neurodegenerative conditions. However, we confirmed that very high total-tau levels were significantly associated with definitive prion diagnoses and exhibited greater sensitivity and specificity than protein 14-3-3, which is routinely used as a marker. Our study showed that PAR-2, in CSF, was not specifically altered in prion diseases compared to other neurodegenerative conditions. Our results also confirmed that very high total-tau protein CSF levels were significantly associated with a definitive Creutzfeldt-Jakob disease (CJD) diagnosis and should be routinely tested as a diagnostic marker. Observed individual variability in CSF biomarkers provide invaluable feedback from neuropathological examinations even in "clinically certain" cases.

High Spatial Resolution MRI of Cystic Adventitial Disease of the Iliofemoral Vein Communicating with the Hip Joint

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

Michaelides, Michael, E-mail: mihalismihailidis@gmail.com; Papas, Stylianos, E-mail: vascular@drpapas.com; Pantziara, Maria, E-mail: mgpantziara@gmail.com

2013-05-14

Venous cystic adventitial disease (CAD) is an extremely rare entity, and so far less than 20 cases have been described in the literature. Herein, we describe the imaging findings of CAD of iliofemoral vein in a 51-year-old woman who presented with leg swelling with special emphasis on high spatial resolution MRI, which demonstrated communication of the cyst with the hip joint. To our knowledge, this is the first description of high spatial resolution MRI findings in venous CAD supporting a new theory about the pathogenesis of venous CAD.

Sporadic Hemangioblastoma Arising from the Infundibulum

PubMed Central

Pakdaman, Michael N; Austin, Matthew J; Bannykh, Serguei; Pressman, Barry D

2017-01-01

Hemangioblastomas are rare vascular tumors most often found in the posterior fossa and cervical spinal cord and commonly associated with von Hippel-Lindau Disease. We report a case of sporadic hemangioblastoma in a patient without von Hippel-Lindau Disease. Imaging characteristics included a solid, suprasellar mass that was homogeneously enhancing. These findings most resembled a pituicytoma or choroid glioma because of the close association with the infundibulum and the homogeneous avid enhancement. Microscopically, the neoplasm was seen to be composed of vascular channels associated with foamy stromal cells, containing clear cytoplasmic vacuoles. Microscopic and immunohistochemical findings were consistent with hemangioblastoma. Hemangioblastomas are a rare form of vascular tumor most commonly associated with von-Hippel Lindau disease. Our finding of non-cystic hemangioblastoma arising from the infundibulum demonstrates that, while rare, hemangioblastomas should be considered on the differential diagnosis for an avidly enhancing suprasellar mass. PMID:29299088

The molecular mechanisms of glucocorticoids-mediated neutrophil survival.

PubMed

Saffar, Arash S; Ashdown, Heather; Gounni, Abdelilah S

2011-04-01

Neutrophil-dominated inflammation plays an important role in many airway diseases including asthma, chronic obstructive pulmonary disease (COPD), bronchiolitis and cystic fibrosis. In cases of asthma where neutrophil-dominated inflammation is a major contributing factor to the disease, treatment with corticosteroids can be problematic as corticosteroids have been shown to promote neutrophil survival which, in turn, accentuates neutrophilic inflammation. In light of such cases, novel targeted medications must be developed that could control neutrophilic inflammation while still maintaining their antibacterial/anti-fungal properties, thus allowing individuals to maintain effective innate immune responses to invading pathogens. The aim of this review is to describe the molecular mechanisms of neutrophil apoptosis and how these pathways are modulated by glucocorticoids. These new findings are of potential clinical value and provide further insight into treatment of neutrophilic inflammation in lung disease.

Association of periodontal disease, oral procedures, and other clinical findings with bacterial endocarditis in dogs.

PubMed

Peddle, Gordon D; Drobatz, Kenneth J; Harvey, Colin E; Adams, Allison; Sleeper, Meg M

2009-01-01

To identify risk factors potentially associated with the development of bacterial endocarditis in dogs and determine whether periodontal disease and surgical procedures (oral and nonoral) were associated with bacterial endocarditis. Retrospective case-control study. 76 dogs with (cases) and 80 dogs without (controls) bacterial endocarditis. Medical records were reviewed for information on signalment, physical examination findings, recent medical history, and results of echocardiography, clinicopathologic testing, and necropsy. None of the dogs with endocarditis had a history of undergoing any dental or oral procedure in the 3 months prior to the diagnosis of endocarditis, and no significant difference was found between groups with regard to the prevalence of oral infection. Dogs with endocarditis were significantly more likely to have undergone a nonoral surgical procedure that required general anesthesia in the preceding 3 months or to have developed a new heart murmur or a change in intensity of an existing heart murmur. Preexisting cardiac dis-ease (congenital or acquired) was not found to be a risk factor. Results did not provide any evidence of an association between bacterial endocarditis in dogs and either dental or oral surgical procedures or oral infection. Findings suggested that the routine use of prophylactic antimicrobial administration in dogs undergoing oral procedures needs to be reevaluated.

Coexistence of reticulate acropigmentation of Kitamura and Dowling-Degos disease.

PubMed

Cabral, Ana Rita; Santiago, Felicidade; Reis, José Pedro

2011-08-03

Reticulate acropigmentation of Kitamura (RAK) and Dowling-Degos Disease (DDD) are rare genodermatosis inherited as an autosomal dominant trait with variable penetrance. They are part of a spectrum of diseases with hyperpigmented macules coalescing in a reticular pattern, facial and palmoplantar pits, breaks in dermatoglyphics, comedo-like lesions and epidermoid cysts, and a unique histological picture of hyperpigmented digitate epidermal downgrowths. The authors describe the case of a 45-year-old female with reticulate acropigmentation of the dorsa of the hands and feet, hyperpigmented macules on the axilla and around the mouth, and palmar pitting. Clinical and histological findings, together with a relevant family history, allowed the authors to consider this case an example of the rare event of an overlap RAK-DDD.

Polycystic kidney disease in a European roe deer (Capreolus capreolus).

PubMed

Blutke, Andreas; März, Kristian; Matenaers, Cyrill; Oswald, Karl; Hermanns, Walter; Wanke, Rüdiger

2013-06-01

A severe case of polycystic nephropathy was seen in an adult European roe deer (Capreolus capreolus), culled in a German hunting district. The doe had bilaterally drastically enlarged kidneys, completely riddled with variably sized, fluid-filled cysts of up to 4 cm in diameter. Histopathologic and ultrastructural examination revealed disseminated formation of cysts with flattened epithelial cell linings in the entire renal parenchyma, as well as severe dilations of renal tubules, marked interstitial fibrosis, nephron atrophy, and chronic interstitial lymphoplasmacytic infiltrations in the intercystic kidney tissue. These morphologic findings most likely resemble the hallmarks of autosomal dominant polycystic disease in humans, and present the first detailed description of a case of polycystic kidney disease in a roe deer.

Occupational and Environmental Bronchiolar Disorders

PubMed Central

Cummings, Kristin J.; Kreiss, Kathleen

2015-01-01

Occupational and environmental causes of bronchiolar disorders are recognized on the basis of case reports, case series, and, less commonly, epidemiologic investigations. Pathology may be limited to the bronchioles or also involve other components of the respiratory tract, including the alveoli. A range of clinical, functional, and radiographic findings, including symptomatic disease lacking abnormalities on noninvasive testing, poses a diagnostic challenge and highlights the value of surgical biopsy. Disease clusters in workplaces and communities have identified new etiologies, drawn attention to indolent disease that may otherwise have been categorized as idiopathic, and expanded the spectrum of histopathologic responses to an exposure. More sensitive noninvasive diagnostic tools, evidence-based therapies, and ongoing epidemiologic investigation of at-risk populations are needed to identify, treat, and prevent exposure-related bronchiolar disorders. PMID:26024345

Frequency of Alzheimer's disease pathology at autopsy in patients with clinical normal pressure hydrocephalus.

PubMed

Cabral, Danielle; Beach, Thomas G; Vedders, Linda; Sue, Lucia I; Jacobson, Sandra; Myers, Kent; Sabbagh, Marwan N

2011-09-01

Normal pressure hydrocephalus (NPH) is considered to be potentially treatable with the placement of a cerebrospinal fluid (CSF) shunt. However, the procedure has been reported to have variable success, particularly with respect to improving the cognitive impairment in NPH. The presence of neurologic comorbidities, particularly Alzheimer's disease (AD), may contribute to shunt responsiveness. Uncovering the extent to which AD and NPH co-occur has implications for diagnosis and treatment of NPH. Autopsy studies of patients with NPH during their lifetime would elucidate the frequency of such comorbidities. A search of the Sun Health Research Institute Brain Donation Program database was conducted between January 1, 1997 and April 1, 2009 to identify all cases with neuropathologic evidence of dementia as well as those of clinically diagnosed NPH. We reviewed the medical records and brain findings of each NPH case. Of the 761 cases autopsied over the study interval, 563 were found to have neuropathologic evidence meeting criteria for a dementing illness. Of 563 cases, AD was found exclusively in 313 (56%), and 94 suffered from secondary diagnosis of dementia. Nine of 761 cases were identified with a clinical diagnosis of NPH, which were among the 563 cases with neuropathology of dementing illness at autopsy, representing 1.6% (9/563) of the cases. On review of brain autopsy reports of these nine patients, eight (89%) were found to have AD and one (11%) had progressive supranuclear palsy. Review of the medical records of the nine NPH cases revealed the following clinical comorbidities: five suffered from AD, one from Parkinson's Disease, one from mild cognitive impairment, and one from seizure disorder. Given the findings of the present study, we support the AD-NPH theory and posit that AD is a common pathologic comorbidity in the setting of NPH and may preclude cognitive improvement postshunt placement. This may influence the selection of cases for shunting in the future. Copyright © 2011 The Alzheimer's Association. Published by Elsevier Inc. All rights reserved.

Lung ultrasound has limited diagnostic value in rare cystic lung diseases: a cross-sectional study.

PubMed

Davidsen, Jesper Rømhild; Bendstrup, Elisabeth; Henriksen, Daniel P; Graumann, Ole; Laursen, Christian B

2017-01-01

Background : Lung ultrasound (LUS) used to identify interstitial syndrome (IS) and pleural thickening related to diffuse parenchymal lung disease (DPLD) has shown significant correlations with ground glass opacity (GGO) on high-resolution computed tomography (HRCT). However, the applicability of LUS in patients with DPLD subtypes as rare cystic lung diseases has not previously been investigated. This study aimed to observe if distinctive LUS findings could be found in patients with lymphangioleiomyomatosis (LAM), pulmonary Langerhans cell histiocytosis (PLCH), and Birt-Hogg-Dubé syndrome (BHDS). Methods : This single centre case-based cross-sectional study of patients diagnosed with LAM, PCLH and BHDS was conducted at a Danish DPLD specialist centre. Patients underwent clinical examination including LUS. LUS findings were compared to findings scored according to a modified Belmaati score on HRCT and reviewed in consensus between two pulmonologists and one radiologist. Results : Twelve patients with HRCT proven cystic lung disease were included, six with LAM, three with PLCH, two with BHDS, and one with uncharacteristic cystic lung disease. The mean age was 48.7 years (SD ± 15.8). In general all had normal LUS findings. IS could not be found in any patients despite GGO presentation on HRCT among 75% of the patients with a Belmaati in the highest category of 0.76-1.00. Pleural thickening on LUS was present in three patients, but with inconsistent findings. Conclusion : This study indicates that LUS has limited value as a diagnostic tool in patients with LAM, PLCH, and BHDS as normal LUS findings did not rule out severe cystic lung disease.

Serotonin toxicity involving MDMA (ecstasy) and moclobemide.

PubMed

Pilgrim, J L; Gerostamoulos, D; Woodford, N; Drummer, Olaf H

2012-02-10

The use of MDMA (ecstasy) in Australia is a widespread and growing problem, promoting acute toxicity and disease which can lead to premature death in users. We report four cases of fatal serotonin toxicity caused by the combination of MDMA and moclobemide, a reversible MAO-A inhibitor with potent serotonergic activity. Despite the highly reported toxicity of this drug combination, there are very few reports of fatalities attributed to a MDMA and moclobemide interaction. Pathology and toxicology reports, initial police reports and coroners' findings were examined to determine the circumstances of the deaths. Symptoms of some of the four cases as reported by paramedics and medical staff included hyperthermia, hyperkalemia, profuse sweating, twitching and shaking. Two cases involved moclobemide concentrations consistent with common prescribed doses, while the other two cases involved much higher concentrations often associated with toxicity. Three of these cases presented with some form of heart disease. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.

Validity of juvenile idiopathic arthritis diagnoses using administrative health data.

PubMed

Stringer, Elizabeth; Bernatsky, Sasha

2015-03-01

Administrative health databases are valuable sources of data for conducting research including disease surveillance, outcomes research, and processes of health care at the population level. There has been limited use of administrative data to conduct studies of pediatric rheumatic conditions and no studies validating case definitions in Canada. We report a validation study of incident cases of juvenile idiopathic arthritis in the Canadian province of Nova Scotia. Cases identified through administrative data algorithms were compared to diagnoses in a clinical database. The sensitivity of algorithms that included pediatric rheumatology specialist claims was 81-86%. However, 35-48% of cases that were identified could not be verified in the clinical database depending on the algorithm used. Our case definitions would likely lead to overestimates of disease burden. Our findings may be related to issues pertaining to the non-fee-for-service remuneration model in Nova Scotia, in particular, systematic issues related to the process of submitting claims.

Dermatoglyphics in kidney diseases: a review.

PubMed

Wijerathne, Buddhika T B; Meier, Robert J; Salgado, Sujatha S; Agampodi, Suneth B

2016-01-01

Kidney diseases are becoming a major cause of global burden with high mortality and morbidity. The origins of most kidney diseases are known, but for some the exact aetiology is not yet understood. Dermatoglyphics is the scientific study of epidermal ridge patterns and it has been used as a non-invasive diagnostic tool to detect or predict different medical conditions that have foetal origin. However, there have been a limited number of studies that have evaluated a dermatoglyphic relationship in different kidney diseases. The aim of this review was to systematically identify, review and appraise available literature that evaluated an association of different dermatoglyphic variables with kidney diseases. This review is reported according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses checklist. The PubMed(®) (Medline), POPLINE, Cochrane Library and Trip Database and grey literature sources such as OpenGrey, Google Scholar, and Google were searched to earliest date to 17 April 2014. Of the 36 relevant publications, 15 were included in the review. Of these studies, there are five case reports, seven case series and three comparative studies. Possible association of dermatoglyphics with Wilms tumor (WT) had been evaluated in two comparative studies and one case series that found fewer whorls and a lower mean total ridge count (TRC). Another study evaluated adult polycystic kidney disease (APCD) type III that revealed lower TRC means in all cases. All other case series and case reports describe dermatoglyphics in various kidney disease such as acro-renal-ocular syndrome, potter syndrome, kabuki makeup syndrome, neurofaciodigitorenal syndrome, syndactyly type V, ring chromosome 13 syndrome, trisomy 13 syndrome and sirenomelia. It is evident that whorl pattern frequency and TRC have been used widely to investigate the uncertainty related to the origin of several kidney diseases such as WT and APCD type III. However, small sample sizes, possibly methodological issues, and discrepancy in the make up between cases and control groups limits interpretation of any significant findings. Future studies with proper protocol, adequate cases, and control groups may provide stronger evidence to resolve uncertainty related to the aetiology of kidney diseases.

Prognosis of Parkinson disease: risk of dementia and mortality: the Rotterdam Study.

PubMed

de Lau, Lonneke M L; Schipper, C Maarten A; Hofman, Albert; Koudstaal, Peter J; Breteler, Monique M B

2005-08-01

Most prognostic studies on Parkinson disease have been hospital based or have applied register-based case-finding methods. Potential under-representation of mild cases may have given biased results. To evaluate whether Parkinson disease is associated with an increased risk of dementia and death. Population-based cohort study. Parkinson disease and dementia were assessed through in-person examination at baseline (1990-1993) and 2 follow-up visits (1993-1994 and 1997-1999). Computerized linkage to medical and municipality records provided additional information on disease outcomes and mortality. General population. A total of 6969 participants, including 99 prevalent and 67 incident cases of Parkinson disease. Incident dementia and death. Adjusted hazard ratios were calculated through Cox proportional hazards regression analysis. Patients with Parkinson disease had an increased risk of dementia (hazard ratio, 2.8; 95% confidence interval, 1.8-4.4), which was especially pronounced in participants carrying at least 1 apolipoprotein E gene (APOE) epsilon2 allele (13.5; 4.5-40.6). Parkinson disease was associated with an increased mortality risk (1.8; 1.5-2.3). The association consistently diminished when analyses were sequentially restricted to patients with shorter disease duration and after adjustment for the occurrence of dementia. Especially patients with Parkinson disease who carry an APOE epsilon2 allele have an increased risk of developing dementia. Increased mortality risk in Parkinson disease is dependent on disease duration and is only modest in the absence of dementia.

Murder, insanity, and medical expert witnesses.

PubMed

Ciccone, J R

1992-06-01

Recent advances in the ability to study brain anatomy and function and attempts to link these findings with human behavior have captured the attention of the legal system. This had led to the increasing use of the "neurological defense" to support a plea of not guilty by reason of insanity. This article explores the history of the insanity defense and explores the role of the medical expert witnesses in integrating clinical and laboratory findings, eg, computed tomographic scans, magnetic resonance scans, and single-photon emission computed tomographic scans. Three cases involving murder and brain dysfunction are discussed: the first case involves a subarachnoid hemorrhage resulting in visual perceptual and memory impairment; the second case, a diagnosis of Alzheimer's disease; and the third case, the controverted diagnosis of complex partial seizures in a serial killer.

Acquired toxoplasmosis of the buccal area with extranodular involvement: report of an unusual case.

PubMed

Köybaşi, Serap; Süslü, Ahmet Emre; Yigit, Beyhan; Boran, Cetin

2009-12-01

Acquired toxoplasmosis is a common parasitic infection in humans. It can be caused by ingestion of infected meat or other food that has been contaminated by the feces of infected cats. Approximately 90% of immunocompetent patients with acquired toxoplasmosis are asymptomatic and undiagnosed; in the other 10%, toxoplasmosis manifests as a nonspecific, self-limited illness that usually does not require treatment. In symptomatic cases, cervical lymphadenopathy is one of the most common clinical findings. We report the case of a 33-year-old woman who experienced unilateral facial swelling secondary to toxoplasmosis. In addition to the atypical location of her disease (i.e., the buccal area), the atypical histopathologic findings in this case (e.g., extranodular involvement) constituted a very unusual presentation of toxoplasmosis.

Postmortem audit in a paediatric cardiology unit.

PubMed Central

Russell, G A; Berry, P J

1989-01-01

Postmortem examinations performed on 76 children with a clinical diagnosis of congenital heart disease were reviewed retrospectively and compared with the findings before death. Both operated and unoperated cases were studied over a three year period. Despite intensive investigation during life, there was a high rate of unsuspected abnormalities at necropsy (80%): 29 cases had undiagnosed additional cardiac anomalies or surgical flaws, which contributed to death in 13 cases. Defects in surgery were uncommon but permitted modification in surgical technique to avoid recurrence. Myocardial necrosis and pulmonary foreign body embolism were common findings, the importance of which is uncertain and requires further study for their prevention. Even in the most thoroughly investigated cases postmortem examination has a high yield of clinically important pathology which is undetected during life. Images PMID:2794078

Achalasia and thyroid disease: possible autoimmune connection?

PubMed

Quidute, Ana Rosa P; Freitas, Eduardo Vasconcelos de; Lima, Tadeu Gonçalves de; Feitosa, Ana Márcia Lima; Santos, Joyce Paiva dos; Correia, José Walter

2012-12-01

Many cases have been published showing a co-existence of autoimmune thyroid diseases (AITDs) and other autoimmune diseases. About a quarter of patients with achalasia have a concurrent thyroid disease, most commonly associated with hypothyroidism. Although relatively rare, the association of achalasia and hyperthyroidism requires attention. The physiopathology of Grave's Disease (GD) involves B- and T-mediator lymphocytes, which have an affinity for known thyroid antigens: thyroglobulin, thyroid-peroxidase, and thyrotrophin receptor. Currently, however, the real physiopathogenesis of achalasia continues to be unknown. Some important findings are suggestive of an autoimmune mechanism: significant infiltration of the myoenteric plexus by monocytes, presence of the class II-Human Histocompatibility Complex DQwl antigen and antibodies to myoenteric neurons. The present case reports a patient who, despite testing negative for Chagas' disease, had achalasia, progressed to developing significant wasting and worsening of his quality of life, was later diagnosed with hyperthyroidism. After endoscopic esophageal dilatation and radioiodine ablation of the thyroid gland, there was great improvement in the patient clinical condition.

Nocardia infections among immunomodulated inflammatory bowel disease patients: A review

PubMed Central

Abreu, Cândida; Rocha-Pereira, Nuno; Sarmento, António; Magro, Fernando

2015-01-01

Human nocardiosis, caused by Nocardia spp., an ubiquitous soil-borne bacteria, is a rare granulomatous disease close related to immune dysfunctions. Clinically can occur as an acute life-threatening disease, with lung, brain and skin being commonly affected. The infection was classically diagnosed in HIV infected persons, organ transplanted recipients and long term corticosteroid treated patients. Currently the widespread use of immunomodulators and immunossupressors in the treatment of inflammatory diseases changed this scenario. Our purpose is to review all published cases of nocardiosis in immunomodulated patients due to inflammatory diseases and describe clinical and laboratory findings. We reviewed the literature concerning human cases of nocardiosis published between 1980 and 2014 in peer reviewed journals. Eleven cases of nocardiosis associated with anti-tumor necrosis factor (TNF) prescription (9 related with infliximab and 2 with adalimumab) were identified; 7 patients had inflammatory bowel disease (IBD), 4 had rheumatological conditions; nocardia infection presented as cutaneous involvement in 3 patients, lung disease in 4 patients, hepatic in one and disseminated disease in 3 patients. From the 10 cases described in IBD patients 7 were associated with anti-TNF and 3 with steroids and azathioprine. In conclusion, nocardiosis requires high levels of clinical suspicion and experience of laboratory staff, in order to establish a timely diagnosis and by doing so avoid worst outcomes. Treatment for long periods tailored by the susceptibility of the isolated species whenever possible is essential. The safety of restarting immunomodulators or anti-TNF after the disease or the value of prophylaxis with cotrimoxazole is still debated. PMID:26074688

Kawasaki syndrome: a case report.

PubMed

Blakeley, S L; Cohen, P R

1993-08-01

A four-year-old black boy with Kawasaki syndrome is reported. The child was treated with intravenous gamma globulin and aspirin. He had no disease-associated adverse sequelae. The clinical findings, diagnostic criteria, and treatment of Kawasaki syndrome are reviewed.

Exercise in individuals with inflammatory bowel disease.

PubMed

Nathan, Indira; Norton, Christine; Czuber-Dochan, Wladyslawa; Forbes, Alastair

2013-01-01

There is increasing evidence that exercise may improve symptoms in individuals with inflammatory bowel disease (IBD). This study aims to explore issues that clinicians may need to consider when giving advice on exercise to such individuals. Limited existing evidence suggests that low to moderate physical activity may improve symptoms without any adverse effects in individuals with IBD. This is largely supported by the findings of the current case series of "exercising" individuals with IBD who reported that low- to moderate-intensity exercise (most commonly walking) had a positive effect on their mood, fatigue, weight maintenance, and osteoporosis. Overexertion was reported as a potential problem. Scant advice regarding exercise had been given by their healthcare professionals according to participants. The current literature and findings of this small case series suggest that exercise is likely to be beneficial and safe for individuals with IBD. However, more research is required on which recommendations for exercise could be based.

Bilateral external ear canal osteomas - discussion on a clinical case.

PubMed

Gheorghe, D C; Stanciu, A E; Ulici, A; Zamfir-Chiru-Anton, A

2016-01-01

Osteomas of the external ear are uncommon benign tumors that need to be differentiated from the external ear canal exostoses, bony proliferations that are linked mainly to cold-water exposure. Clinical manifestations vary from no symptoms to recurrent local infections and external ear cholesteatoma. Objective: presenting a rare case that we did not find described in the published literature. A patient with multiple long-term asymptomatic osteomas of both external ear canals presented to our department. Material: Data recorded from the patient's medical record was reviewed and analyzed. Surgery was performed and histology confirmed the presumptive diagnosis. Results: There was a discrepancy between the local severity of the disease, with a complete obstruction of his ear canals, and the long-term disease-free status of the patient. Conclusion: We hypothesized about the etiology of these multiple bilateral osteomas of the EAC, in light of the clinical and surgical findings.

Antitopoisomerase antibody positivity predates nailfold capillaroscopy abnormalities in scleroderma. Postulated classification of 'prescleroderma'.

PubMed

Englert, H; Champion, D; Wu, J C; Giallussi, J; McGrath, M; Manolios, N

2011-02-01

In a patient with early topoisomerase antibody-positive scleroderma, antinuclear antibody positivity was fortuitously observed to predate nailfold capillaroscopy changes. Using this case as a template, the prediagnostic phase of the presumed multifactorial disease may be divided into 5 temporal phases--phase 1 representing conception and intrauterine environment, phase 2 representing the extrauterine environment predating environmental exposure; phase 3 representing the early post-environmental exposure interval with no detectable perturbed body status; phase 4 representing the post-environmental exposure interval characterized by autoantibody production and microvascular changes, and phase 5, the symptomatic clinical prediagnostic interval (Raynaud's, skin, musculoskeletal, gastrointestinal, cardiorespiratory) prompting scleroderma diagnosis. Temporal classification of prescleroderma aids in both the understanding and definition of scleroderma 'onset'. If altered nailfold capillaries and autoantibodies develop at comparable rates, and if the findings from this case--that autoantibody changes precede microvascular changes--are truly representative of the preclinical disease phase, then these findings argue that the evolution of the disease is from within the vessel outwards, rather than vice versa. © 2011 The Authors. Internal Medicine Journal © 2011 Royal Australasian College of Physicians.

Kenyan university students' views on AIDS.

PubMed

Sindiga, I; Lukhando, M

1993-11-01

In view of the rapidly increasing number of AIDS cases reported in Kenya since 1984, a survey was conducted among Kenyatta University undergraduate students during October and November 1988 to gauge their knowledge, attitudes and practices with regard to the disease. A random sample of 344 individuals both men and women was interviewed. The results showed that almost everyone had heard about AIDS and the knowledge was spread evenly across gender. Although the students were able to identify the symptoms of a full blown AIDS victim, their knowledge on HIV was vague. Other findings were: that condoms were lowly rated as a strategy for minimizing the risk of contracting AIDS and the majority of the students attempted to reduce the chance of contracting the disease by having one sex partner. However, the students were apathetic about contracting the disease. In the event of becoming victims of AIDS, most of them indicated that they would not merely wait to die; instead they would commit suicide. In view of these findings, there is a case for educating this group on how to respond to the AIDS infection.

Skin findings in autoimmune and nonautoimmune thyroid disease with respect to thyroid functional status and healthy controls.

PubMed

Takir, Mümtaz; Özlü, Emin; Köstek, Osman; Türkoğlu, Zafer; Mutlu, Hasan Hüseyin; Uzunçakmak, Tuğba Kevser; Akdeniz, Necmettin; Karadağ, Ayşe Serap

2017-06-12

Thyroid disorders are associated with a wide variety of skin disorders that respond to treatment of hormone imbalance in most cases and thus are of vital importance to dermatologists. This study aimed to evaluate skin findings associated with autoimmune and nonautoimmune thyroid disease with respect to thyroid functional status and healthy controls. A total of 300 consecutive patients with either autoimmune (n = 173) or nonautoimmune (n = 127) thyroid disease and 100 healthy control subjects were included in this cross-sectional study. Data on patient demographics, thyroid function tests, and skin findings were recorded for patient and control groups. Compared to control subjects, patients had higher proportions in populations with alopecia (P < 0.001), nail thinning (P = 0.02), brittle nails (P = 0.001), pruritus (P < 0.001), diffuse hyperhidrosis (P = 0.01), flushing (P = 0.001), and xerosis (P < 0.001). Onycholysis (P = 0.02), yellow skin (P = 0.04), periorbital edema (P = 0.03), psoriasis (P = 0.001), and palmoplantar hyperkeratosis (P = 0.007) were significantly more common in patients with autoimmune than nonautoimmune thyroid disease. A significantly higher percentage of patients with autoimmune rather than nonautoimmune thyroid disease had overall skin findings (P = 0.03) among the hyperthyroid patients.Conclusions: Our findings indicate that the presence of skin findings in a majority of thyroid patients significantly differs for certain cutaneous manifestations with respect to controls, autoimmune etiology, and thyroid functional status.

Clinical and histopathological features of fatal cases with dengue and chikungunya virus co-infection in Colombia, 2014 to 2015.

PubMed

Mercado, Marcela; Acosta-Reyes, Jorge; Parra, Edgar; Pardo, Lissethe; Rico, Angélica; Campo, Alfonso; Navarro, Edgar; Viasus, Diego

2016-06-02

We report clinical features and histopathological findings in fatal cases with dengue (DENV) and chikungunya (CHIKV) co-infection identified at the Colombian National Institute of Health between September 2014 and October 2015. Seven such cases were documented. Dengue serotype 2 virus was identified in six cases. All patients were adults and comorbidities were present in four. Fever, arthralgia or myalgia was present in all cases. The frequency of rash, haemorrhage, oedema, and gastrointestinal symptoms was variable. Laboratory findings such as thrombocytopenia, renal failure, and leukocyte count were also inconsistent between cases. Post-mortem tissue examination documented focal hepatocellular coagulative necrosis in three cases, incipient acute pericarditis in one and tubulointerstitial nephritis in one. This study provides evidence of mortality in patients with DENV and CHIKV co-infection. Fatal cases were characterised by variable clinical and laboratory features. Evaluation of histopathology of autopsy tissues provided evidence of the pathological consequences of the disease.

[Mathematic analysis of risk factors influence on occupational respiratory diseases development].

PubMed

Budkar', L N; Bugaeva, I V; Obukhova, T Iu; Tereshina, L G; Karpova, E A; Shmonina, O G

2010-01-01

Analysis covered 1348 case histories of workers exposed to industrial dust in Urals region. The analysis applied mathematical processing of survival theory and correlation analysis. The authors studied influence of various factors: dust concentration, connective tissue dysplasia, smoking habits--on duration for diseases caused by dust to appear. Findings are that occupational diseases develop reliably faster with higher ambient dust concentrations and with connective tissue dysplasia syndrome. Smoking habits do not alter duration of pneumoconiosis development, but reliably increases development of occupational dust bronchitis.

Cross-Sectional Imaging in a Case of Adventitial Cystic Disease of the Popliteal Artery

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

Ricci, Paolo; Panzetti, Claudio; Mastantuono, Marco

1999-01-15

Adventitial cystic disease of the popliteal artery is an unusual condition of uncertain etiology, in which a mucin-containing cyst forms in the wall of the artery and produces lower extremity claudication, typically in young and middle-aged men. A diagnosis of adventitial cystic disease of the popliteal artery was made preoperatively in a 47-year-old man by means of several imaging modalities, including angiography, magnetic resonance imaging, and ultrasound. The pathological findings confirmed the suggested diagnosis.

Thoracic Imaging Features of Legionnaire's Disease.

PubMed

Mittal, Sameer; Singh, Ayushi P; Gold, Menachem; Leung, Ann N; Haramati, Linda B; Katz, Douglas S

2017-03-01

Imaging examinations are often performed in patients with Legionnaires' disease. The literature to date has documented that the imaging findings in this disorder are relatively nonspecific, and it is therefore difficult to prospectively differentiate legionella pneumonia from other forms of pneumonia, and from other noninfectious thoracic processes. Through a review of clinical cases and the literature, our objective is for the reader to gain a better understanding of the spectrum of radiographic manifestations of Legionnaires' disease. Copyright © 2016 Elsevier Inc. All rights reserved.

Pulmonary embolism due to right ventricular thrombus in a case of Behcet's disease.

PubMed

Yasuo, M; Nagano, S; Yazaki, Y; Koizumi, T; Kitabayashi, H; Imamura, H; Amano, J; Isobe, M

1999-11-01

Right ventricular thrombus is a very rare manifestation of cardiovascular Behcet's disease. A 25-year-old man was admitted to hospital due to cough and fever of unknown origin. He experienced repetitive pulmonary embolism due to a right ventricular thrombus, which was surgically removed. A diagnosis of Behcet's disease was made based on his clinical course and the histological findings of the right ventricular wall and the skin lesion. He was quickly relieved of his symptoms after warfarinization and cyclosporine therapy.

Redefining meaningful age groups in the context of disease.

PubMed

Geifman, Nophar; Cohen, Raphael; Rubin, Eitan

2013-12-01

Age is an important factor when considering phenotypic changes in health and disease. Currently, the use of age information in medicine is somewhat simplistic, with ages commonly being grouped into a small number of crude ranges reflecting the major stages of development and aging, such as childhood or adolescence. Here, we investigate the possibility of redefining age groups using the recently developed Age-Phenome Knowledge-base (APK) that holds over 35,000 literature-derived entries describing relationships between age and phenotype. Clustering of APK data suggests 13 new, partially overlapping, age groups. The diseases that define these groups suggest that the proposed divisions are biologically meaningful. We further show that the number of different age ranges that should be considered depends on the type of disease being evaluated. This finding was further strengthened by similar results obtained from clinical blood measurement data. The grouping of diseases that share a similar pattern of disease-related reports directly mirrors, in some cases, medical knowledge of disease-age relationships. In other cases, our results may be used to generate new and reasonable hypotheses regarding links between diseases.

A patient with cerebral Whipple disease with gastric involvement but no gastrointestinal symptoms: a consequence of local protective immunity?

PubMed Central

Prüss, Harald; Katchanov, Juri; Zschenderlein, Rolf; Loddenkemper, Christoph; Schneider, Thomas; Moos, Verena

2007-01-01

Whipple disease is a granulomatous infectious disease caused by Tropheryma whipplei. The bacteria accumulate within macrophages, preferentially in the intestinal mucosa. Disease manifestation seems to be linked to immunological abnormalities of macrophages. We describe a patient with cerebral Whipple disease who presented with changes in mental status, confusion, inverse sleep–wake cycle, bilateral ptosis and vertical gaze palsy. Endoscopic biopsy sampling revealed Whipple disease in the gastric antrum but not in the duodenum. Whole blood stimulation displayed reactivity to T whipplei that was at the lower end of healthy controls while reactivity of duodenal lymphocytes was not diminished. We propose that in cases of neurological symptoms suspicious of Whipple disease with normal duodenal and jenunal findings, biopsy sampling should be extended to the gastric mucosa. The robust reactivity of duodenal lymphocytes may have prevented our patient from developing small bowel disease, whereas the impaired reactivity in peripheral blood lymphocytes might yet explain the bacterial spreading to the central nervous system leading to the rare case of predominant neurological symptoms without relevant systemic involvement. PMID:17371903

Transarterial embolization for the treatment of massive bleeding in gynecologic and obstetric emergencies: a single center experience.

PubMed

Hongsakul, Keerati; Songjamrat, Apiradee; Rookkapan, Sorracha

2014-08-01

Delayed treatment of the massive bleeding in gynecologic and obstetric conditions can cause high morbidity and mortality. The aim of this study is to assess the angiographic findings and outcomes of transarterial embolization in cases of massive hemorrhage from underlying gynecological and obstetrical conditions. This is a retrospective study of 18 consecutive patients who underwent transarterial embolization of uterine and/or hypogastric arteries due to massive bleeding from gynecological and obstetrical causes from January 2006 to December 2011. The underlying causes of bleeding, angiographic findings, technical success rates, clinical success rates, and complications were evaluated. Massive gynecological and obstetrical bleeding occurred in 12 cases and 6 cases, respectively. Gestational trophoblastic disease was the most common cause of gynecological bleeding. The most common cause of obstetrical hemorrhage was primary post-partum hemorrhage. Tumor stain was the most frequent angiographic finding (11 cases) in the gynecological bleeding group. The most common angiographic findings in obstetrical patients were extravasation (2 cases) and pseudoaneurysm (2 cases). Technical and final clinical success rates were found in all 18 cases and 16 cases. Collateral arterial supply, severe metritis, and unidentified cervical laceration were causes of uncontrolled bleeding. Only minor complications occurred, which included pelvic pain and groin hematoma. Percutaneous transarterial embolization is a highly effective and safe treatment to control massive bleeding in gynecologic and obstetric emergencies.

Fuzzy similarity measures for ultrasound tissue characterization

NASA Astrophysics Data System (ADS)

Emara, Salem M.; Badawi, Ahmed M.; Youssef, Abou-Bakr M.

1995-03-01

Computerized ultrasound tissue characterization has become an objective means for diagnosis of diseases. It is difficult to differentiate diffuse liver diseases, namely cirrhotic and fatty liver from a normal one, by visual inspection from the ultrasound images. The visual criteria for differentiating diffused diseases is rather confusing and highly dependent upon the sonographer's experience. The need for computerized tissue characterization is thus justified to quantitatively assist the sonographer for accurate differentiation and to minimize the degree of risk from erroneous interpretation. In this paper we used the fuzzy similarity measure as an approximate reasoning technique to find the maximum degree of matching between an unknown case defined by a feature vector and a family of prototypes (knowledge base). The feature vector used for the matching process contains 8 quantitative parameters (textural, acoustical, and speckle parameters) extracted from the ultrasound image. The steps done to match an unknown case with the family of prototypes (cirr, fatty, normal) are: Choosing the membership functions for each parameter, then obtaining the fuzzification matrix for the unknown case and the family of prototypes, then by the linguistic evaluation of two fuzzy quantities we obtain the similarity matrix, then by a simple aggregation method and the fuzzy integrals we obtain the degree of similarity. Finally, we find that the similarity measure results are comparable to the neural network classification techniques and it can be used in medical diagnosis to determine the pathology of the liver and to monitor the extent of the disease.

Iodine-131 induced hepatotoxicity in previously healthy patients with Grave's disease.

PubMed

Jhummon, Navina Priya; Tohooloo, Bhavna; Qu, Shen

2013-01-01

To describe the association of the rare and serious complication of liver toxicity in previously healthy Grave's disease (GD) patients after the treatment with radioactive iodine (131)I (RAI). We report the clinical, laboratory and pathologic findings of 2 cases of severe liver toxicity associated with the treatment with RAI in previously healthy patients with GD. Clinical examination and laboratory investigations excluded viral hepatitis, autoimmune hepatitis, granulomatous disease, primary biliary disease, extrahepatic biliary obstruction, and heart failure. Case 1: A previously healthy 52-years old man reportedly having a typical GD but following RAI treatment, concomitantly developed severe liver toxicity that required 1 week of treatment in hospital. Case 2: A previously healthy 34-years old woman is reported as having a typical GD but developed jaundice following RAI treatment that required several weeks of in hospital treatment in the hepato-biliary department. In both cases, the liver dysfunction resolved after intensive treatment with hepato-protective agents. In this report the therapeutic considerations as well as the pathogenetic possibilities are reviewed. To the best of our knowledge, this is the first description of the association observed, which is rare but may be severe and should be considered in any case of thyrotoxicosis where a liver dysfunction develops after the treatment with radioactive iodine (131)I.

[Tuberculosis patient disease knowledge, attitudes and behavioral intentions: the impact of individualized counseling].

PubMed

Wu, Shiau-Jiun; Lu, Po-Liang; Chen, Yen-Hsu; Pan, Hui-Juan; Feng, Ming-Chu

2011-12-01

The Taiwan government currently promotes a case management approach to tuberculosis (TB) treatment to address the growing number of TB and multiple drug-resistant TB cases in Taiwan. The approach aims to improve medical follow-up and monitor quality of care. The efficacy of this case management approach has yet to be evaluated. The current study was designed to evaluate the effect of individualized case manager counseling on TB patient disease knowledge, attitudes, and behavioral intention. This study employed a one-group pretest-posttest quasi-experimental design. Participants first answered an initial questionnaire survey including three structured scales that addressed, respectively, the facets of disease knowledge, attitudes, and behavioral intention. TB case managers then delivered two- stage counseling to participants based on assessed individual needs and outstanding issues identified in questionnaire answers. A second questionnaire survey was administered 30~42 days after the intervention. Data on a total of 96 TB patients were collected. Key study findings were (1) individualized counseling significantly improved TB patient disease knowledge (p < .001) and (2) TB patient attitudes correlated significantly and positively with behavior intention (p < .001). Individualized counseling provided during the early stages of TB helps elevate patient awareness of the importance of treatment, enhances compliance and increases the cure rate.

Diagnostic utility of three-dimensional power Doppler ultrasound for postmenopausal bleeding.

PubMed

Kim, Ari; Lee, Ji Young; Chun, Sungwook; Kim, Heung Yeol

2015-06-01

We evaluated the role of three-dimensional power Doppler ultrasound (3D PD-US) to detect endometrial lesions in women with postmenopausal endometrial bleeding. In this prospective observational study, from January 2009 to November 2012, we recruited 225 postmenopausal women with postmenopausal uterine bleeding who met the study criteria. Women who had hematologic disease, chronic medical diseases, or nonuterine pelvic diseases were excluded. Prior to endometrial biopsy, the patients underwent a baseline transvaginal ultrasound screening. The vascular indices and endometrial volumes were calculated with 3D PD-US and compared with the endometrial histopathology. Among the endometrial histopathologic findings of 174 women, atrophic endometrium was the most common finding (30.5%). Endometrial malignancy was confirmed in 28 cases (16.1%), and endometrial hyperplasia was diagnosed in 17 cases (9.8%). The prevalence of endometrial cancer was high in patients who had endometrial thickness >9.5 mm (p < 0.001) and volume greater than 4.05 mL (p < 0.001). For the endometrial carcinoma only, the cutoff values of vascular index, flow index, and vascular flow index for predicting malignancy were 13.070, 12.610, and 3.764, respectively. For endometrial hyperplasia, endometrial thickness and vascular flow index were significant findings. Endometrial vasculature and volume can be obtained using 3D PD-US. The diagnostic usefulness of 3D PD-US for endometrial diseases is promising in women with postmenopausal endometrial bleeding. Copyright © 2015. Published by Elsevier B.V.

Retinal tear presenting in a patient with ectrodactyly ectodermal dysplasia.

PubMed

Grogg, Jane Ann; Port, Nicholas; Graham, Trevor

2014-04-01

This article aims to report a case of known ectrodactyly ectodermal dysplasia in a young male patient who subsequently was found to have a retinal tear and localized retinal detachment. This is a case report of a 22-year-old white male patient with a history of ectrodactyly ectodermal dysplasia. Our patient initially presented with an acute exacerbation of bilateral, red, irritated eyes. No recent changes in vision were reported. The patient's ocular surface disease was consistent with ectrodermal dysplasia syndrome. However, a dilated fundus examination revealed an asymptomatic retinal tear with a surrounding localized retinal detachment. In this case, the patient presented with longstanding ocular surface disease known to be associated with this patient's inherited ectoderm disorder. In addition, this patient revealed a retinal tear, raising the possibility that patients with inherited congenital ectodermal dysplasia could be at risk for damaged structures originating from the neural ectoderm. In this heterogeneous disease, we are contributing to the existing literature a case of ectodermal dysplasia syndrome with obvious ectodermal complications that also had retinal findings leading us to speculate question if neural ectoderm could also be involved in this inherited disease.

Radiation-induced liver disease as a mimic of liver metastases at serial PET/CT during neoadjuvant chemoradiation of distal esophageal cancer.

PubMed

Grant, Michael J; Didier, Ryne A; Stevens, Jeffrey S; Beyder, Dmitry D; Hunter, John G; Thomas, Charles R; Coakley, Fergus V

2014-10-01

To determine the frequency and appearance of radiation-induced liver disease on PET/CT in patients undergoing serial imaging during neoadjuvant chemoradiation of distal esophageal cancer. In this IRB-approved, HIPAA-compliant retrospective analysis, we identified 112 patients with distal esophageal cancer treated by neoadjuvant chemoradiation who had serial PET/CT imaging available for review. Two readers reviewed all studies in consensus and recorded those cases where new foci of visually detectable increased FDG avidity appeared in the liver during therapy. The etiology of such foci was determined from corresponding findings at CT or MRI, by hepatic biopsy during surgery, by characteristic evolution on post-operative imaging, or by a combination of these methods. New foci of FDG avidity developed in the liver during neoadjuvant therapy in 10 of 112 (9%) patients, of whom nine (8%) were determined to have radiation-induced liver disease based on further imaging and/or biopsy and one of whom had developed interval metastatic disease based on biopsy. In the cases of radiation-induced liver disease, the abnormal foci were found only in the caudate and left hepatic lobes, near the primary tumor, while the patient who developed interval metastatic disease had involvement of the inferior right hepatic lobe, remote from the radiation therapy field. New foci of increased FDG avidity are commonly seen in the caudate and left hepatic lobes of the liver during neoadjuvant chemoradiation of distal esophageal cancer, and these findings generally reflect radiation-induced liver disease rather than metastatic disease.

Bioengineering and Stem Cell Technology in the Treatment of Congenital Heart Disease

PubMed Central

Bosman, Alexis; Edel, Michael J.; Blue, Gillian; Dilley, Rodney J.; Harvey, Richard P.; Winlaw, David S.

2015-01-01

Congenital heart disease places a significant burden on the individual, family and community despite significant advances in our understanding of aetiology and treatment. Early research in ischaemic heart disease has paved the way for stem cell technology and bioengineering, which promises to improve both structural and functional aspects of disease. Stem cell therapy has demonstrated significant improvements in cardiac function in adults with ischaemic heart disease. This finding, together with promising case studies in the paediatric setting, demonstrates the potential for this treatment in congenital heart disease. Furthermore, induced pluripotent stems cell technology, provides a unique opportunity to address aetiological, as well as therapeutic, aspects of disease. PMID:26239354

Legionnaire's Disease Since Philadelphia: Lessons Learned and Continued Progress.

PubMed

Cunha, Cheston B; Cunha, Burke A

2017-03-01

Legionnaire's disease has been recognized as a cause of severe community-acquired pneumonia (CAP). Legionnaire's disease has characteristic extrapulmonary findings that are the basis for a presumptive clinical diagnosis. The widespread use of Legionella culture, sputum DFA, serology, urinary antigen testing, and polymerase chain reaction have allowed earlier diagnosis of Legionnaire's disease. Excluding common source outbreaks, CAP caused by Legionnaire's disease is manifested as sporadic cases. In contrast, nosocomial Legionnaire's disease occurs in clusters or outbreaks from common Legionella species-contaminated water sources. Improved diagnostic tests have permitted accurate diagnosis. Bacterial coinfections with Legionnaire's disease are uncommon, but when present, are most often associated with bacteremia pneumococcal pneumonia. Copyright © 2016 Elsevier Inc. All rights reserved.

Epilepsy-related sudden unexpected death: targeted molecular analysis of inherited heart disease genes using next-generation DNA sequencing.

PubMed

Hata, Yukiko; Yoshida, Koji; Kinoshita, Koshi; Nishida, Naoki

2017-05-01

Inherited heart disease causing electric instability in the heart has been suggested to be a risk factor for sudden unexpected death in epilepsy (SUDEP). The purpose of this study was to reveal the correlation between epilepsy-related sudden unexpected death (SUD) and inherited heart disease. Twelve epilepsy-related SUD cases (seven males and five females, aged 11-78 years) were examined. Nine cases fulfilled the criteria of SUDEP, and three cases died by drowning. In addition to examining three major epilepsy-related genes, we used next-generation sequencing (NGS) to examine 73 inherited heart disease-related genes. We detected both known pathogenic variants and rare variants with minor allele frequencies of <0.5%. The pathogenicity of these variants was evaluated and graded by eight in silico predictive algorithms. Six known and six potential rare variants were detected. Among these, three known variants of LDB3, DSC2 and KCNE1 and three potential rare variants of MYH6, DSP and DSG2 were predicted by in silico analysis as possibly highly pathogenic in three of the nine SUDEP cases. Two of three cases with desmosome-related variants showed mild but possible significant right ventricular dysplasia-like pathology. A case with LDB3 and MYH6 variants showed hypertrabeculation of the left ventricle and severe fibrosis of the cardiac conduction system. In the three drowning death cases, one case with mild prolonged QT interval had two variants in ANK2. This study shows that inherited heart disease may be a significant risk factor for SUD in some epilepsy cases, even if pathological findings of the heart had not progressed to an advanced stage of the disease. A combination of detailed pathological examination of the heart and gene analysis using NGS may be useful for evaluating arrhythmogenic potential of epilepsy-related SUD. © 2016 International Society of Neuropathology.

Acute Chagas Disease: New Global Challenges for an Old Neglected Disease

PubMed Central

Andrade, Daniela V.; Gollob, Kenneth J.; Dutra, Walderez O.

2014-01-01

Chagas disease is caused by infection with the protozoan Trypanosoma cruzi, and although over 100 years have passed since the discovery of Chagas disease, it still presents an increasing problem for global public health. A plethora of information concerning the chronic phase of human Chagas disease, particularly the severe cardiac form, is available in the literature. However, information concerning events during the acute phase of the disease is scarce. In this review, we will discuss (1) the current status of acute Chagas disease cases globally, (2) the immunological findings related to the acute phase and their possible influence in disease outcome, and (3) reactivation of Chagas disease in immunocompromised individuals, a key point for transplantation and HIV infection management. PMID:25077613

Absence of chronic traumatic encephalopathy in retired football players with multiple concussions and neurological symptomatology

PubMed Central

Hazrati, Lili-Naz; Tartaglia, Maria C.; Diamandis, Phedias; Davis, Karen D.; Green, Robin E.; Wennberg, Richard; Wong, Janice C.; Ezerins, Leo; Tator, Charles H.

2013-01-01

Background: Chronic traumatic encephalopathy (CTE) is the term coined for the neurodegenerative disease often suspected in athletes with histories of repeated concussion and progressive dementia. Histologically, CTE is defined as a tauopathy with a distribution of tau-positive neurofibrillary tangles (NFTs) that is distinct from other tauopathies, and usually shows an absence of beta-amyloid deposits, in contrast to Alzheimer's disease (AD). Although the connection between repeated concussions and CTE-type neurodegeneration has been recently proposed, this causal relationship has not yet been firmly established. Also, the prevalence of CTE among athletes with multiple concussions is unknown. Methods: We performed a consecutive case series brain autopsy study on six retired professional football players from the Canadian Football League (CFL) with histories of multiple concussions and significant neurological decline. Results: All participants had progressive neurocognitive decline prior to death; however, only 3 cases had post-mortem neuropathological findings consistent with CTE. The other 3 participants had pathological diagnoses of AD, amyotrophic lateral sclerosis (ALS), and Parkinson's disease (PD). Moreover, the CTE cases showed co-morbid pathology of cancer, vascular disease, and AD. Discussion: Our case studies highlight that not all athletes with history of repeated concussions and neurological symptomology present neuropathological changes of CTE. These preliminary findings support the need for further research into the link between concussion and CTE as well as the need to expand the research to other possible causes of taupathy in athletes. They point to a critical need for prospective studies with good sampling methods to allow us to understand the relationship between multiple concussions and the development of CTE. PMID:23745112

Iodine-131 induced hepatotoxicity in previously healthy patients with Grave’s disease

PubMed Central

2013-01-01

Objective To describe the association of the rare and serious complication of liver toxicity in previously healthy Grave’s disease (GD) patients after the treatment with radioactive iodine 131I (RAI). Case presentation We report the clinical, laboratory and pathologic findings of 2 cases of severe liver toxicity associated with the treatment with RAI in previously healthy patients with GD. Clinical examination and laboratory investigations excluded viral hepatitis, autoimmune hepatitis, granulomatous disease, primary biliary disease, extrahepatic biliary obstruction, and heart failure. Case 1: A previously healthy 52-years old man reportedly having a typical GD but following RAI treatment, concomitantly developed severe liver toxicity that required 1 week of treatment in hospital. Case 2: A previously healthy 34-years old woman is reported as having a typical GD but developed jaundice following RAI treatment that required several weeks of in hospital treatment in the hepato-biliary department. In both cases, the liver dysfunction resolved after intensive treatment with hepato-protective agents. In this report the therapeutic considerations as well as the pathogenetic possibilities are reviewed. Conclusion To the best of our knowledge, this is the first description of the association observed, which is rare but may be severe and should be considered in any case of thyrotoxicosis where a liver dysfunction develops after the treatment with radioactive iodine 131I. PMID:23497434

Role of oral candidiasis in TB and HIV co-infection: AIDS Clinical Trial Group Protocol A5253.

PubMed

Shiboski, C H; Chen, H; Ghannoum, M A; Komarow, L; Evans, S; Mukherjee, P K; Isham, N; Katzenstein, D; Asmelash, A; Omozoarhe, A E; Gengiah, S; Allen, R; Tripathy, S; Swindells, S

2014-06-01

To evaluate the association between oral candidiasis and tuberculosis (TB) in human immunodeficiency virus (HIV) infected individuals in sub-Saharan Africa, and to investigate oral candidiasis as a potential tool for TB case finding. Protocol A5253 was a cross-sectional study designed to improve the diagnosis of pulmonary TB in HIV-infected adults in high TB prevalence countries. Participants received an oral examination to detect oral candidiasis. We estimated the association between TB disease and oral candidiasis using logistic regression, and sensitivity, specificity and predictive values. Of 454 participants with TB culture results enrolled in African sites, the median age was 33 years, 71% were female and the median CD4 count was 257 cells/mm(3). Fifty-four (12%) had TB disease; the prevalence of oral candidiasis was significantly higher among TB cases (35%) than among non-TB cases (16%, P < 0.001). The odds of having TB was 2.4 times higher among those with oral candidiasis when controlling for CD4 count and antifungals (95%CI 1.2-4.7, P = 0.01). The sensitivity of oral candidiasis as a predictor of TB was 35% (95%CI 22-48) and the specificity 85% (95%CI 81-88). We found a strong association between oral candidiasis and TB disease, independent of CD4 count, suggesting that in resource-limited settings, oral candidiasis may provide clinical evidence for increased risk of TB and contribute to TB case finding.

Severe Hypocalcemia in a Patient with Recurrent Chondrosarcoma

PubMed Central

Eun, Jung Nam; Choi, Yoo Duk; Lee, Jeong Ho; Jeong, Yun Ah; Yoon, Jee Hee; Kim, Hee Kyung; Kang, Ho-Cheol

2017-01-01

Hypocalcemia is relatively uncommon paraneoplastic syndrome. Only one case of hypocalcemia has been reported in a patient with chondrosarcoma. We herein report a case of a 32-year-old woman with metastatic chondrosarcoma with tetany. Her imaging findings revealed multiple calcific metastatic lesions in the lungs, pancreas, left atrium, and pulmonary vein. A laboratory examination showed hypocalcemia with no evidence of any other disease that could induce hypocalcemia. On the basis of the laboratory and clinical findings, we concluded the etiology of her severe hypocalcemia to be excessive calcium consumption by the tumor itself. PMID:28717079

Mastitis, a Radiographic, Clinical, and Histopathologic Review.

PubMed

Cheng, Lin; Reddy, Vijaya; Solmos, Gene; Watkins, Latanja; Cimbaluk, David; Bitterman, Pincas; Ghai, Ritu; Gattuso, Paolo

2015-01-01

Mastitis is a benign inflammatory process of the breast with heterogeneous histopathological findings, which clinically and radiographically may mimic a mammary carcinoma. We undertook a retrospective study on 37 cases of mastitis in our institution to correlate the radiographic imaging features and the clinical presentation with the histopathological findings. Histologically, there were 21 granulomatous, 7 fibrous, 3 plasma cell, 3 lupus, 2 lymphocytic, and 1 case of acute mastitis. Radiographically, 16/25 (64%) patients with ultrasound studies showed irregular hypoechoic masses suspicious for malignancy. Clinically, 38% of patients had an associated systemic disease. © 2015 Wiley Periodicals, Inc.

Nipple adenoma arising from axillary accessory breast: a case report

PubMed Central

2012-01-01

Nipple adenoma is a relatively rare benign breast neoplasm, and cases of the disease arising from the axillary accessory breast have very seldom been reported in the English literature. We report a case of nipple adenoma arising from axillary accessory breast including clinical and pathological findings. An 82-year-old woman presented with the complaint of a small painful mass in the right axilla. Physical examination confirmed a well-defined eczematous crusted mass that was 8 mm in size. The diagnosis of nipple adenoma was made from an excisional specimen on the basis of characteristic histological findings. Microscopic structural features included a compact proliferation of small tubules lined by epithelial and myoepithelial cells, and the merging of glandular epithelial cells of the adenoma into squamous epithelial cells in the superficial epidermal layer. Because clinically nipple adenoma may resemble Paget’s disease and pathologically can be misinterpreted as tubular carcinoma, the correct identification of nipple adenoma is an important factor in the differential diagnosis for axillary tumor neoplasms. Virtual slides The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/1186821489769063 PMID:23186145

Unusual MRI findings in an immunocompetent patient with EBV encephalitis: a case report

PubMed Central

2011-01-01

Blackground It is well-known that Epstein-Barr virus (EBV) can affect the central nervous system (CNS). Case presentation Herein the authors report unusual timely Magnetic Resonance Imaging (MRI) brain scan findings in an immunocompetent patient with EBV encephalitis. Diffusion weighted MRI sequence performed during the acute phase of the disease was normal, whereas the Fast Relaxation Fast Spin Echo T2 image showed diffuse signal intensity changes in white matter. The enhancement pattern suggested an inflammatory response restricted to the brain microcirculation. Acyclovir and corticosteroid therapy was administered. After three weeks, all signal intensities returned to normal and the patient showed clinical recovery. Conclusion This report demonstrates that EBV in an immunocompetent adult can present with diffuse, reversible brain white matter involvement in the acute phase of mononucleosis. Moreover, our case suggests that a negative DWI sequence is associated with a favorable improvement in severe EBV CNS infection. More extensive studies are needed to assess what other instrumental data can help to distinguish viral lesions from other causes in the acute phase of disease. PMID:21435249

TDP-43 Is Not a Common Cause of Sporadic Amyotrophic Lateral Sclerosis

PubMed Central

Guerreiro, Rita J.; Schymick, Jennifer C.; Crews, Cynthia; Singleton, Andrew; Hardy, John; Traynor, Bryan J.

2008-01-01

Background TAR DNA binding protein, encoded by TARDBP, was shown to be a central component of ubiquitin-positive, tau-negative inclusions in frontotemporal lobar degeneration (FTLD-U) and amyotrophic lateral sclerosis (ALS). Recently, mutations in TARDBP have been linked to familial and sporadic ALS. Methodology/Principal Findings To further examine the frequency of mutations in TARDBP in sporadic ALS, 279 ALS cases and 806 neurologically normal control individuals of European descent were screened for sequence variants, copy number variants, genetic and haplotype association with disease. An additional 173 African samples from the Human Gene Diversity Panel were sequenced as this population had the highest likelihood of finding changes. No mutations were found in the ALS cases. Several genetic variants were identified in controls, which were considered as non-pathogenic changes. Furthermore, pathogenic structural variants were not observed in the cases and there was no genetic or haplotype association with disease status across the TARDBP locus. Conclusions Our data indicate that genetic variation in TARDBP is not a common cause of sporadic ALS in North American. PMID:18545701

Contrast-enhanced postmortem computed tomography in clinical pathology: enhanced value of 20 clinical autopsies.

PubMed

Westphal, Saskia E; Apitzsch, Jonas C; Penzkofer, Tobias; Kuhl, Christiane K; Mahnken, Andreas H; Knüchel, Ruth

2014-09-01

Postmortem computed tomography (PMCT) is a modern tool that complements autopsy diagnostics. In clinical autopsies, a major cause of death is cardiovascular disease. To improve the performance of PMCT in cardiovascular disease, full body angiography was developed (PMCT angiography [PMCTA]). Twenty PMCTA scans generated before autopsy were compared with native PMCT and clinical autopsy. The objective of the study was to quantify the additional diagnostic value of adding angiography to native imaging and to compare PMCT and PMCTA findings to autopsy findings. The diagnosis of the cause of death was identical or overlapped in 80% of the cases that used PMCTA and 70% that used PMCT. The additional diagnostic yield given by PMCT and PMCTA in combination with autopsy was 55%. PMCT yielded additional diagnoses in the musculoskeletal system. The greatest additional diagnostic value of PMCTA was in association with cardiovascular diagnoses. The accuracy of PMCTA for cardiac causes of death was 80%, and the positive predictive value was 90%. The findings indicate that native PMCT cannot display the cardiovascular system sufficiently clearly for high-quality diagnostic assessment. However, PMCTA is a powerful tool in autopsy cases with a history of cardiovascular disease and/or a suspected cardiovascular cause of death. The combination of PMCTA and clinical autopsy enhances diagnostic quality and completeness of the autopsy report. Furthermore, in cases without consent or with a restricted consent for clinical autopsy, PMCTA has the potential to provide information on cardiovascular causes of death. Copyright © 2014 Elsevier Inc. All rights reserved.

An Ontology to Improve Transparency in Case Definition and Increase Case Finding of Infectious Intestinal Disease: Database Study in English General Practice

PubMed Central

2017-01-01

Background Infectious intestinal disease (IID) has considerable health impact; there are 2 billion cases worldwide resulting in 1 million deaths and 78.7 million disability-adjusted life years lost. Reported IID incidence rates vary and this is partly because terms such as “diarrheal disease” and “acute infectious gastroenteritis” are used interchangeably. Ontologies provide a method of transparently comparing case definitions and disease incidence rates. Objective This study sought to show how differences in case definition in part account for variation in incidence estimates for IID and how an ontological approach provides greater transparency to IID case finding. Methods We compared three IID case definitions: (1) Royal College of General Practitioners Research and Surveillance Centre (RCGP RSC) definition based on mapping to the Ninth International Classification of Disease (ICD-9), (2) newer ICD-10 definition, and (3) ontological case definition. We calculated incidence rates and examined the contribution of four supporting concepts related to IID: symptoms, investigations, process of care (eg, notification to public health authorities), and therapies. We created a formal ontology using ontology Web language. Results The ontological approach identified 5712 more cases of IID than the ICD-10 definition and 4482 more than the RCGP RSC definition from an initial cohort of 1,120,490. Weekly incidence using the ontological definition was 17.93/100,000 (95% CI 15.63-20.41), whereas for the ICD-10 definition the rate was 8.13/100,000 (95% CI 6.70-9.87), and for the RSC definition the rate was 10.24/100,000 (95% CI 8.55-12.12). Codes from the four supporting concepts were generally consistent across our three IID case definitions: 37.38% (3905/10,448) (95% CI 36.16-38.5) for the ontological definition, 38.33% (2287/5966) (95% CI 36.79-39.93) for the RSC definition, and 40.82% (1933/4736) (95% CI 39.03-42.66) for the ICD-10 definition. The proportion of laboratory results associated with a positive test result was 19.68% (546/2775). Conclusions The standard RCGP RSC definition of IID, and its mapping to ICD-10, underestimates disease incidence. The ontological approach identified a larger proportion of new IID cases; the ontology divides contributory elements and enables transparency and comparison of rates. Results illustrate how improved diagnostic coding of IID combined with an ontological approach to case definition would provide a clearer picture of IID in the community, better inform GPs and public health services about circulating disease, and empower them to respond. We need to improve the Pathology Bounded Code List (PBCL) currently used by laboratories to electronically report results. Given advances in stool microbiology testing with a move to nonculture, PCR-based methods, the way microbiology results are reported and coded via PBCL needs to be reviewed and modernized. PMID:28958989

Hodgkin/Reed-Sternberg cells and Hodgkin's disease in patients with B-cell chronic lymphocytic leukaemia: an immunohistological, molecular and clinical study of four cases suggesting a heterogeneous pathogenetic background.

PubMed

Pescarmona, E; Pignoloni, P; Mauro, F R; Cerretti, R; Anselmo, A P; Mandelli, F; Baroni, C D

2000-08-01

We report the immunohistological, molecular and clinical findings in four patients affected by B-cell chronic lymphocytic leukaemia (CLL) who developed "Richter's syndrome with Hodgkin's disease (HD) features" or "CLL with Hodgkin's transformation", all characterised by the presence of typical Hodgkin/Reed-Sternberg (H/RS) cells in lymph node biopsies. In three cases the nodal involvement by CLL was demonstrated both by the presence of a predominant background of CD5/CD19/CD23+ small lymphocytes and an IgH monoclonal rearrangement revealed by PCR analysis. Conversely, in the remaining case there was neither immunohistological nor molecular evidence of lymph node involvement by CLL. In all four cases H/RS cells were Epstein-Barr virus (EBV) latent membrane protein (LMP-1) positive. These findings suggest that the presence of H/RS cells in the first three patients, who had CLL/HD nodal involvement, might be related to transformation or clonal evolution of CLL cells in H/RS cells, which is in keeping with use of the term "CLL with Hodgkin's transformation". In the fourth case a de novo HD may be postulated, representing a second malignancy presumably not clonally related to CLL. In all cases a key pathogenetic role of EBV is suggested by the expression of LMP-1 in H/RS cells. Our findings indicate that the presence of typical H/RS cells in lymph node biopsies in CLL patients may reflect a heterogeneous pathogenetic background. The different clinico-pathologic settings should be taken into consideration because of their possible implications for patients' treatment and prognosis.

CT findings in malignant pleural mesothelioma related to nonoccupational exposure to asbestos and fibrous zeolite (erionite)

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

Erzen, C.; Eryilmaz, M.; Kalyoncu, F.

1991-03-01

Endemic malignant pleural mesothelioma (MPM) in Turkey is related to two mineral fibers, tremolite asbestos and fibrous zeolite (erionite). Thirteen cases of MPM from the Cappadocian area, where the soil is rich in erionite, and 29 cases of MPM, from villages whose occupants have high asbestos exposure, were examined by CT. The CT findings of the two groups of MPM were compared with respect to the configuration of the pleural lesions, stage of disease, fissural involvement, pleural effusion, presence of calcified pleural plaques, and chronic fibrosing pleuritis. In erionite-related MPM the pleural lesions were flat and smooth in 69.1%; inmore » asbestos-related MPM the lesions were nodular in 55.1%. Stage IV disease, calcified pleural plaques, and chronic fibrosing pleuritis were more common in the erionite-related MPM. The rest of the findings were similar in both groups. The early radiological diagnosis of erionite-related MPM may be even more difficult because of the similarity of the pleural lesions to chronic fibrosing pleuritis.« less

An Ontology to Improve Transparency in Case Definition and Increase Case Finding of Infectious Intestinal Disease: Database Study in English General Practice.

PubMed

de Lusignan, Simon; Shinneman, Stacy; Yonova, Ivelina; van Vlymen, Jeremy; Elliot, Alex J; Bolton, Frederick; Smith, Gillian E; O'Brien, Sarah

2017-09-28

Infectious intestinal disease (IID) has considerable health impact; there are 2 billion cases worldwide resulting in 1 million deaths and 78.7 million disability-adjusted life years lost. Reported IID incidence rates vary and this is partly because terms such as "diarrheal disease" and "acute infectious gastroenteritis" are used interchangeably. Ontologies provide a method of transparently comparing case definitions and disease incidence rates. This study sought to show how differences in case definition in part account for variation in incidence estimates for IID and how an ontological approach provides greater transparency to IID case finding. We compared three IID case definitions: (1) Royal College of General Practitioners Research and Surveillance Centre (RCGP RSC) definition based on mapping to the Ninth International Classification of Disease (ICD-9), (2) newer ICD-10 definition, and (3) ontological case definition. We calculated incidence rates and examined the contribution of four supporting concepts related to IID: symptoms, investigations, process of care (eg, notification to public health authorities), and therapies. We created a formal ontology using ontology Web language. The ontological approach identified 5712 more cases of IID than the ICD-10 definition and 4482 more than the RCGP RSC definition from an initial cohort of 1,120,490. Weekly incidence using the ontological definition was 17.93/100,000 (95% CI 15.63-20.41), whereas for the ICD-10 definition the rate was 8.13/100,000 (95% CI 6.70-9.87), and for the RSC definition the rate was 10.24/100,000 (95% CI 8.55-12.12). Codes from the four supporting concepts were generally consistent across our three IID case definitions: 37.38% (3905/10,448) (95% CI 36.16-38.5) for the ontological definition, 38.33% (2287/5966) (95% CI 36.79-39.93) for the RSC definition, and 40.82% (1933/4736) (95% CI 39.03-42.66) for the ICD-10 definition. The proportion of laboratory results associated with a positive test result was 19.68% (546/2775). The standard RCGP RSC definition of IID, and its mapping to ICD-10, underestimates disease incidence. The ontological approach identified a larger proportion of new IID cases; the ontology divides contributory elements and enables transparency and comparison of rates. Results illustrate how improved diagnostic coding of IID combined with an ontological approach to case definition would provide a clearer picture of IID in the community, better inform GPs and public health services about circulating disease, and empower them to respond. We need to improve the Pathology Bounded Code List (PBCL) currently used by laboratories to electronically report results. Given advances in stool microbiology testing with a move to nonculture, PCR-based methods, the way microbiology results are reported and coded via PBCL needs to be reviewed and modernized. ©Simon de Lusignan, Stacy Shinneman, Ivelina Yonova, Jeremy van Vlymen, Alex J Elliot, Frederick Bolton, Gillian E Smith, Sarah O'Brien. Originally published in JMIR Medical Informatics (http://medinform.jmir.org), 28.09.2017.

Pulmonary tularaemia: all that looks like cancer is not necessarily cancer - case report of four consecutive cases.

PubMed

Fachinger, Patrick; Tini, Gabrielo Mauro; Grobholz, Rainer; Gambazzi, Franco; Fankhauser, Hans; Irani, Sarosh

2015-03-26

Pulmonary tularaemia is a very rare disease with only a small number of cases described in the literature. So far, to our knowledge, there exists no case report of pulmonary tularaemia where PET-CT scans and follow up CT scans are available. We present four consecutive cases of pulmonary tularaemia. All patients suffered from non-specific symptoms. All patients were referred to our institution with strong suspicions of malignancy, particularly lung cancer. Diagnosis of tularaemia was made by typical findings in the aspirate of EBUS guided fine needle aspiration (necrosis, epithelioid cell aggregation) and surgical biopsy respectively, and a positive serology. In three of the four cases, the diagnosis was confirmed by positive PCR results of the tissue. PET-CT scans obtained in all four cases were indistinguishable from lesions typically seen in patients suffering from lung cancer. One of the four patients suffered from recurrence of the disease after antibiotic treatment; also this patient finally recovered after initiation of a second antibiotic regimen. One case became asymptomatic spontaneously, but this patient still received an antibiotic treatment. In one case, a follow up CT scan was unchanged compared to the initial PET-CT scan; in all other cases, the lesions disappeared almost completely. Symptoms of patients suffering from pulmonary tularaemia are non-specific and can be of prolonged character. PET-CT scans in these cases are indistinguishable from lung cancer. The diagnosis can be established when typical findings in EBUS guided fine needle aspirates or surgical biopsies are found in combination with a positive serology. In most cases the lesions disappear in follow up CT scans after clinically successful treatment.

Prevalence of non-cardiovascular findings on CT angiography in children with congenital heart disease.

PubMed

Malik, Archana; Hellinger, Jeffrey C; Servaes, Sabah; Schwartz, Mathew C; Keller, Marc S; Epelman, Monica

2017-03-01

CT angiography is gaining broader acceptance in the evaluation of children with known or suspected congenital heart disease. These studies include non-cardiovascular structures such as the mediastinum, lung parenchyma and upper abdominal organs. It is important to inspect all these structures for potential abnormalities that might be clinically important and, in some cases, may impact care plans. To determine the prevalence of non-cardiovascular findings in CT angiography of children with congenital heart disease. During 28 months, 300 consecutive children (170 males; mean age: 7.1 years, age range: 6 h-26 years), referred from a tertiary pediatric cardiology center, underwent clinically indicated CT angiography to evaluate known or suspected congenital heart disease. Slightly more than half (n = 169) of the patients were postoperative or post-intervention. Examinations were retrospectively reviewed, and non-cardiovascular findings were recorded and tabulated by organ system, congenital heart disease and operative procedure in conjunction with outcomes from medical charts. Non-cardiovascular findings were identified in 83% (n = 250 / 300) of the studies for a total of 857 findings. In 221 patients (n = 73.7% of 300) a total of 813 non-cardiovascular findings were clinically significant, while in 9.7% (n = 29 / 300) of patients, 5.1% (n = 44 / 857) of the findings were nonsignificant. In 38.3% (n = 115 / 300) of patients with significant non-cardiovascular pathology, the findings were unexpected and directly impacted patient care plans. Commonly involved organs with non-cardiovascular findings were the lungs with 280 non-cardiovascular findings in 176 / 300 (58.7%) of patients, the airway with 139 non-cardiovascular findings in 103 / 300 (34.3%) of patients and the liver with 108 non-cardiovascular findings in 72 / 300 (24.0%) of patients. Syndromic associations were noted in 22% (n = 66 / 300) of the patients. Non-cardiovascular findings are common in children with congenital heart disease who undergo CT angiography. Based upon our study population, if a child with congenital heart disease has a CT angiography, five out of six will have non-cardiovascular findings, while nearly three out of four (73.7%; 221 / 300) will have significant non-cardiovascular findings. Close attention to the non-cardiovascular structures in children with congenital heart disease presenting for a CT angiography is recommended as in nearly 40% of these children, findings were unexpected and directly altered patient care.

Prenatal Diagnosis of Persistent Hyperplastic Primary Vitreous: Report of 2 Cases and Review of the Literature.

PubMed

Esmer, Aytul Corbacioglu; Sivrikoz, Tugba Sarac; Gulec, Elif Yilmaz; Sezer, Salim; Kalelioglu, Ibrahim; Has, Recep; Yuksel, Atil

2016-10-01

Persistent hyperplastic primary vitreous is a spectrum of congenital ocular abnormalities characterized by leukocoria, microphthalmia, cataracts, extensive intravitreal hemorrhage, persistence of the hyaloid artery, glaucoma, and retinal detachment. It might be isolated or associated with congenital syndromes such as trisomy 13, Walker-Warburg syndrome, and Norrie disease. We present 2 cases of persistent hyperplastic primary vitreous diagnosed by prenatal sonography in the early third trimester. Bilateral hyperechoic lenses and retinal nonattachment were detected in the sonographic examination of the first case, whereas irregular echogenic bands between the lenses and posterior walls of the eyes were prominent in the second case. In both of the cases, ocular findings were accompanied by intracranial findings, including severe hydrocephalus, an abnormal gyral pattern, and cerebellar hypoplasia, suggesting the diagnosis of Walker-Warburg syndrome. We also present a review of the literature regarding the prenatal diagnosis of this malformation.

Renal Artery Embolization of Perirenal Hematoma in Hemorrhagic Fever with Renal Syndrome: A Case Report

PubMed Central

Choi, Hee Seok; Hwang, Jae Cheol; Lim, Ji Hyon; Kim, Kyung Soo; Yoon, Yup

2007-01-01

Hemorrhagic fever with renal syndrome (HFRS) is an acute viral disease characterized by fever, hemorrhage and renal failure. Among the various hemorrhagic complications of HFRS, spontaneous rupture of the kidney and perirenal hematoma are very rare findings. We report here on a case of HFRS complicated by massive perirenal hematoma, and this was treated with transcatheter arterial embolization. PMID:17673847

Parenchymal Neurocutaneous Melanosis in Association with Intraventricular Dermoid and Dandy-Walker Variant: A Case Report

PubMed Central

Won, Yoo Dong; Kim, Ki Tae; Chang, Eun Deok; Huh, Pil Woo

2006-01-01

Neurocutaneous melanosis (NCM) is a rare congenital disease that is characterized by the presence of large or multiple congenital melanocytic nevi and melanotic lesions of the central nervous system. We report here on the CT and MR imaging findings of an unusual case of NCM that was associated with intraventricular dermoid and Dandy-Walker malformation. PMID:16799276

Mixed malignant germ cell tumour of third ventricle with hydrocephalus: a rare case with recurrence.

PubMed

Kishore, Manjari; Monappa, Vidya; Rao, Lakshmi; Kudva, Ranjini

2014-11-01

Malignant Germ Cell Tumours (GCTs) are rare, accounting for 3% of intracranial tumours and just like their extracranial counterparts represent a wide array of disease. Combination of Germinoma with Teratoma is very rare. Here in, we describe a case of Mixed Malignant Germ cell tumor of third ventricle with recurrence with emphasis on histopathological and radiological findings.

Ten years' experience of Directly Observed Treatment Short-course (DOTS) in Gambella Regional State, Ethiopia: An evaluation of tuberculosis control program.

PubMed

Sisay, Solomon; Mengistu, Belete; Erku, Woldargay; Woldeyohannes, Desalegne

2016-12-01

World Health Organization (WHO) declared tuberculosis (TB) as a global public health emergency and recommended DOTS as a standard strategy for controlling the disease. TB is one of the major causes of infectious diseases in the world, and 25% of all avoidable deaths in developing countries. About a third of the world's population is estimated to be infected with tubercle bacilli, and hence at risk of developing active disease. The objective of the study was, therefore, to evaluate the impact of DOTS strategy on smear-positive pulmonary tuberculosis case finding and their treatment outcomes in Gambella Regional State, Ethiopia. A retrospective health facility-based descriptive study was employed. Quarterly data were collected by using WHO structured reporting format for TB case finding and treatment outcome from all DOTS implementing health facilities in the region. A total of 10,024 TB cases (all forms) were registered and reported between the periods from 2003 up to 2012. Out of these, 4100 (40.9%) were smear-positive pulmonary TB, 3164 (31.6%) were smear-negative pulmonary TB and 2760 (27.5%) had extra-pulmonary TB. An average case detection rate (CDR) 1 of 40.9% (SD=0.1) and treatment success rate (TSR) 2 of 55.7% (SD=0.28) for smear-positive pulmonary TB including other forms of TB were reported for the specified years period. Additionally, the average mean values of treatment defaulter and treatment failure rates were 4.2% and 0.3%, respectively. The recommended TSR set by WHO was achieved as it was already been fulfilled more than 85% from 2009 up to 2011 in the region and the reported CDR was far below (40.9%) for smear-positive pulmonary TB including other forms of TB from the target. Therefore, extensive efforts should be established to maintain the achieved TSR and to increase the low level of CDR for all forms of TB cases through implementing alternative case finding strategies. Copyright © 2016.

Right hemicolectomy for mesenteric phlebosclerosis potentially caused by long-term use of herbal medicine: A case report and literature review.

PubMed

Hoshino, Nobuaki; Hasegawa, Suguru; Hida, Koya; Kawada, Kenji; Sakai, Yoshiharu

2016-01-01

Mesenteric phlebosclerosis is a rare ischemic disease affecting the colon. Systemic disease and herbal medicine have been pointed out as possible causes, and the disease is characterized by calcifications involved the mesocolic veins. Patients who do not respond to conservative therapy require surgical treatment. In surgical intervention, an adequate extent of colonic resection is important. We present a case of an 87-year-old woman with mesenteric phlebosclerosis who had consumed herbal medicine for 40 years. She suffered from ileus caused by mesenteric phlebosclerosis, and the symptoms did not improve with conservative therapy. Right hemicolectomy was performed since the disease was localized in the right colon. Long-term use of herbal medicine was considered the potential cause of mesenteric phlebosclerosis. The postoperative course was mostly uneventful. The patient stopped using herbal medicine and had no signs of recurrence 2 years after surgery. The greatest concern in surgery for mesenteric phleboscrerosis is to detect the affected area, which should be removed. Characteristic findings in computed tomography and intraoperative findings can help to determine the optimal extent of colonic resection. Mesenteric phlebosclerosis caused by herbal medicines occurs as localized disease in the right colon compared with mesenteric phlebosclerosis caused by other pathogenesis. Limited colonic resection is usually indicated for mesenteric phlebosclerosis caused by herbal medicine. Copyright © 2016 The Authors. Published by Elsevier Ltd.. All rights reserved.

A comparison of patterns of disease extension in keratosis obturans and external auditory canal cholesteatoma.

PubMed

Shinnabe, Akihiro; Hara, Mariko; Hasegawa, Masayo; Matsuzawa, Shingo; Kanazawa, Hiromi; Yoshida, Naohiro; Iino, Yukiko

2013-01-01

To investigate the different pathways of progression to the middle ear in keratosis obturans (KO) and external auditory canal cholesteatoma (EACC). Retrospective case review. Referral hospital otolaryngology department. Patients with KO or EACC and middle ear disease who underwent surgical management were included. Four ears of 4 patients (mean age, 41.25 yr) were the KO group, and 5 ears of 4 patients (mean age, 49.5 yr) were the EACC group. Intraoperative findings of the middle ear cavity were investigated in KO and EACC groups. In the KO group, 3 patients had a perforated tympanic membrane and cholesteatoma in the tympanic cavity. The other patient had preoperative right facial palsy. Removal of the keratin plug revealed an adherent tympanic membrane. In intraoperative findings, the tympanic segment of the fallopian canal was found to be eroded because of inflammation. No case initially progressed to the mastoid cavity. Four patients had external auditory canal cholesteatoma with middle ear disease. In EACC group, all patients had initial progression to the mastoid cavity. KO tends to progress initially to the tympanic cavity via a diseased tympanic membrane. EACC tends to progress to the mastoid cavity via destruction of the posterior bony canal. This is the first report to investigate differences in pathway of progression to the middle ear cavity in these 2 diseases.

Investigating a cluster of Legionnaires' cases: public health implications.

PubMed

Carr, R; Warren, R; Towers, L; Bartholomew, A; Duggal, H V; Rehman, Y; Harrison, T G; Olowokure, B

2010-06-01

To describe the multidisciplinary investigation and management of a rapidly increasing number of cases of Legionnaires' disease in the North Shropshire area, UK during August 2006. Epidemiological and environmental investigation of a cluster of cases of Legionnaires' disease. Outbreak investigation included: agreeing case definitions; case finding; epidemiological survey; identification and environmental investigation of potential sources; microbiological analysis of clinical and environmental samples; mapping the location of potential sources; and the movement and residence of cases. Three cases of Legionnaires' disease were admitted to a local hospital between 30 and 31 August 2006. Two of these cases were Shropshire residents, with the third living in Wales. A fourth case was also identified which, it was thought, may have been linked to this cluster as the patient had a history of travel to the same area as the two Shropshire residents. Over the next few weeks, three more cases were identified, two of whom were admitted to hospital. Subsequent detailed environmental, epidemiological and microbiological investigation did not support the hypothesis that any of these cases could be linked to a common source. The results of this investigation strongly suggest that a single source was not responsible for the cluster, and it was concluded that this incident was a pseudo-outbreak. This investigation serves as a reminder that clusters can and do occur, and that an apparent outbreak may be a collection of sporadic cases distinguishable only by rigorous epidemiological, environmental and microbiological investigation. Copyright 2010. Published by Elsevier Ltd.

Histopathologic Findings in Autopsies with Emphasis on Interesting and Incidental Findings-A Pathologist's Perspective.

PubMed

Patel, Sapna; Rajalakshmi, B R; Manjunath, G V

2016-11-01

Autopsy aids to the knowledge of pathology by unveiling the rare lesions which are a source of learning from a pathologist's perspective Some of them are only diagnosed at autopsy as they do not cause any functional derangement. This study emphasizes the various incidental lesions which otherwise would have been unnoticed during a person's life. The aim of this study was to determine the spectrum of histopathological findings including neoplastic lesions related or unrelated to the cause of death. It was also aimed to highlight various incidental and interesting lesions in autopsies. A retrospective study of medicolegal autopsies for six years was undertaken in a tertiary care centre to determine the spectrum of histopathological findings including neoplastic lesions related or unrelated to the cause of death and to highlight various incidental and interesting lesions in autopsies. Statistical Analysis: Individual lesions were described in numbers and incidence in percentage. The study consisted of a series of 269 autopsy cases and histopathological findings were studied only in 202 cases. The commonest cause of death was pulmonary oedema. The most common incidental histopathological finding noted was atherosclerosis in 55 (27.2%) cases followed by fatty liver in 40 (19.8%) cases. Neoplastic lesions accounted for 2.47% of cases. This study has contributed a handful of findings to the pool of rare lesions in pathology. Some of these lesions encountered which served as feast to a pathologist are tumour to tumour metastasis, a case with coexistent triple lesions, Dubin Johnson syndrome, von Meyenburg complex, Multilocular Cystic Renal Cell Carcinoma (MCRCC), Autosomal Dominant Polycystic Kidney Disease (ADPKD), liver carcinod and an undiagnosed vaso-occlusive sickle cell crisis. Autopsy studies help in the detection of unexpected findings significant enough to have changed patient management had they been recognized before death.

Sequential karyotyping in Burkitt lymphoma reveals a linear clonal evolution with increase in karyotype complexity and a high frequency of recurrent secondary aberrations.

PubMed

Aukema, Sietse M; Theil, Laura; Rohde, Marius; Bauer, Benedikt; Bradtke, Jutta; Burkhardt, Birgit; Bonn, Bettina R; Claviez, Alexander; Gattenlöhner, Stefan; Makarova, Olga; Nagel, Inga; Oschlies, Ilske; Pott, Christiane; Szczepanowski, Monika; Traulsen, Arne; Kluin, Philip M; Klapper, Wolfram; Siebert, Reiner; Murga Penas, Eva M

2015-09-01

Typical Burkitt lymphoma is characterized by an IG-MYC translocation and overall low genomic complexity. Clinically, Burkitt lymphoma has a favourable prognosis with very few relapses. However, the few patients experiencing disease progression and/or relapse have a dismal outcome. Here we report cytogenetic findings of seven cases of Burkitt lymphoma in which sequential karyotyping was performed at time of diagnosis and/or disease progression/relapse(s). After case selection, karyotype re-review and additional molecular analyses were performed in six paediatric cases, treated in Berlin-Frankfurt-Münster-Non-Hodgkin lymphoma study group trials, and one additional adult patient. Moreover, we analysed 18 cases of Burkitt lymphoma from the Mitelman database in which sequential karyotyping was performed. Our findings show secondary karyotypes to have a significant increase in load of cytogenetic aberrations with a mean number of 2, 5 and 8 aberrations for primary, secondary and third investigations. Importantly, this increase in karyotype complexity seemed to result from recurrent secondary chromosomal changes involving mainly trisomy 21, gains of 1q and 7q, losses of 6q, 11q, 13q, and 17p. In addition, our findings indicate a linear clonal evolution to be the predominant manner of cytogenetic evolution. Our data may provide a biological framework for the dismal outcome of progressive and relapsing Burkitt lymphoma. © 2015 John Wiley & Sons Ltd.

Acute Fitz-Hugh-Curtis syndrome in a man due to gonococcal infection.

PubMed

Nardini, Paola; Compri, Monica; Marangoni, Antonella; D'Antuono, Antonietta; Bellavista, Sara; Calvanese, Claudio; Belluzzi, Andrea; Bazzoli, Franco; Montagnani, Marco

2015-03-01

Fitz-Hugh-Curtis syndrome is a rare extra-pelvic complication of genital infection involving the perihepatic capsule. Most cases have been described in women in association with pelvic inflammatory disease; in rare cases it has been reported in men. Because the main symptom is acute abdominal pain, and laboratory and imaging findings are frequently nonspecific, the differential diagnosis, considering other gastrointestinal or renal diseases, can be difficult in the early stage of the syndrome, leading to frequent misdiagnosis and mismanagement. We report a case of Fitz-Hugh-Curtis syndrome in a 26-year-old man who first presented to the emergency department with acute abdominal pain, vomiting, and fever. Diagnosis was possible on the basis of clinical signs of orchiepididymitis, abnormal ultrasound findings, and specialist consultation with the Sexually Transmitted Infection Clinic. An acute gonoccocal infection was revealed, which was complicated by a collection of free perihepatic fluid and a subcapsular hypoechoic focal lesion. Prompt antibiotic therapy was established, with complete resolution of the symptoms within a few days. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: Awareness of the clinical presentation, imaging, and laboratory findings during the acute phase of Fitz-Hugh-Curtis syndrome could help emergency physicians to make an early diagnosis and to correctly manage such patients. Improved diagnostic skills could prevent chronic complications that are especially a risk in the case of delayed or minor genitourinary symptoms. Copyright © 2015 Elsevier Inc. All rights reserved.

Disorders of fatty acid oxidation and autosomal recessive polycystic kidney disease-different clinical entities and comparable perinatal renal abnormalities.

PubMed

Hackl, Agnes; Mehler, Katrin; Gottschalk, Ingo; Vierzig, Anne; Eydam, Marcus; Hauke, Jan; Beck, Bodo B; Liebau, Max C; Ensenauer, Regina; Weber, Lutz T; Habbig, Sandra

2017-05-01

Differential diagnosis of prenatally detected hyperechogenic and enlarged kidneys can be challenging as there is a broad phenotypic overlap between several rare genetic and non-genetic disorders. Metabolic diseases are among the rarest underlying disorders, but they demand particular attention as their prognosis and postnatal management differ from those of other diseases. We report two cases of cystic, hyperechogenic and enlarged kidneys detected on prenatal ultrasound images, resulting in the suspected diagnosis of autosomal recessive polycystic kidney disease (ARPKD). Postnatal clinical course and work-up, however, revealed early, neonatal forms of disorders of fatty acid oxidation (DFAO) in both cases, namely, glutaric acidemia type II, based on identification of the novel, homozygous splice-site mutation c.1117-2A > G in the ETFDH gene, in one case and carnitine palmitoyltransferase II deficiency in the other case. Review of pre- and postnatal sonographic findings resulted in the identification of some important differences that might help to differentiate DFAO from ARPKD. In DFAO, kidneys are enlarged to a milder degree than in ARPKD, and the cysts are located ubiquitously, including also in the cortex and the subcapsular area. Interestingly, recent studies have pointed to a switch in metabolic homeostasis, referred to as the Warburg effect (aerobic glycolysis), as one of the underlying mechanisms of cell proliferation and cyst formation in cystic kidney disease. DFAO are characterized by the inhibition of oxidative phosphorylation, resulting in aerobic glycolysis, and thus they do resemble the Warburg effect. We therefore speculate that this inhibition might be one of the pathomechanisms of renal hyperproliferation and cyst formation in DFAO analogous to the reported findings in ARPKD. Neonatal forms of DFAO can be differentially diagnosed in neonates with cystic or hyperechogenic kidneys and necessitate immediate biochemical work-up to provide early metabolic management.

The Repeat Expansion Diseases: the dark side of DNA repair?

PubMed Central

Zhao, Xiao-Nan; Usdin, Karen

2015-01-01

DNA repair normally protects the genome against mutations that threaten genome integrity and thus cell viability. However, growing evidence suggests that in the case of the Repeat Expansion Diseases, disorders that result from an increase in the size of a disease-specific microsatellite, the disease-causing mutation is actually the result of aberrant DNA repair. A variety of proteins from different DNA repair pathways have thus far been implicated in this process. This review will summarize recent findings from patients and from mouse models of these diseases that shed light on how these pathways may interact to cause repeat expansion. PMID:26002199

Hyperbaric oxygen treatment for Parkinson's disease with severe depression and anxiety: A case report.

PubMed

Xu, Jin-Jin; Yang, Si-Tong; Sha, Ying; Ge, Yuan-Yuan; Wang, Jian-Meng

2018-03-01

Patients with Parkinson's disease (PD) frequently suffer from psychiatric disorders, and treating these symptom whereas managing the motor symptoms associated with PD can be a therapeutic challenge. We report a case of PD patient with severe depression and anxiety that refused to be treated with dopaminagonists or SSRIs, the most common treatments for PD patients suffering from psychiatric symptoms. Parkinson's disease with severe depression and anxiety. This man was treated with hyperbaric oxygen treatment for 30 days. Clinical assessment scores for depression and anxiety, including Unified Parkinson's Disease Rating ScaleI (UPDRS I), UPDRS II, Hanmilton Depression Rating Scale, and Hamiliton Anxiety Rating Scale, were improved following the hyperbaric oxygen treatment. Hyperbaric oxygen treatment may be a potential therapeutic method for PD patient suffering from depression and anxiety. Further research is needed to validate this finding and explore a potential mechanism.

[Sinus histiocytosis (Destombes-Rosai-Dorfman disease) revealed by extranodal spinal involvement].

PubMed

Bernard, F; Sarran, N; Serre, I; Baldet, P; Callamand, P; Margueritte, G; Astruc, J

1999-02-01

Sinus histiocytosis with massive cervical lymphadenopathy (Rosai-Dorfman disease) is a non-neoplastic lymphoproliferative disorder. Extranodal involvement, especially of the nervous system, is unusual. We report a case revealed by neurological symptoms. A 10-year-old girl presented with paraparesis due to a dural extramedullary mass on magnetic resonance imaging. Massive cervical lymphadenopathy appeared secondarily. Radiological investigations showed mediastinal, paranasal sinus and lower eyelid involvement. The diagnosis of Rosai-Dorfman disease was established histologically and by immunohistochemical studies of nodal lesions by the demonstration of characteristic sinus histiocytosis with sheets of S-100 protein and CD-68 positive large histiocytes displaying lymphocyte phagocytosis. A dramatic response occurred with complete resolution of all clinical findings after treatment with corticosteroids and etoposide, although neurological lesions were unchanged on magnetic resonance imaging. Despite its rarity, this case underlines the unknown pathogenesis of this disease (immune dysfunction?) and the difficulties of treatment (choice of chemotherapeutic agents, duration).

The challenge of Parkinson's disease management in Africa.

PubMed

Dotchin, C L; Msuya, O; Walker, R W

2007-03-01

Parkinson's disease (PD) is said to be less common in Africa than elsewhere in the world, but previous studies have been based on small numbers. Also, the differences may be due to the diagnostic criteria used, case finding methods and different population age structures. Developing countries have few facilities for chronic disease management and non-communicable diseases, although on the increase, tend to play second fiddle to malaria and HIV/AIDS. Previous reports suggest that, at least from anecdotal information, under-diagnosis of PD is common and long-term availability of medication, follow-up, patient education and multidisciplinary input is lacking. Published literature is scarce and there is a lack of recent information. We are currently conducting a door-to-door prevalence study in northern Tanzania in a population of 161,162. We have reviewed previous literature on PD in Africa and illustrate our personal experience of PD and its management in Africa with three cases.

Lyme borreliosis in dogs and cats: background, diagnosis, treatment and prevention of infections with Borrelia burgdorferi sensu stricto.

PubMed

Krupka, Inke; Straubinger, Reinhard K

2010-11-01

Lyme borreliosis (LB), synonymous with the often-used term Lyme disease, is an infectious disease caused by the spirochetal bacterium Borrelia burgdorferi. LB is the most frequent vector-borne disease in humans in the Northern Hemisphere. In animals, clinically apparent disease is found primarily in dogs. Severe polyarthritis, fever and lameness in dogs are reported from the main endemic areas of North America: the New England States, and eastern parts of the United States; several cases of LB are also seen in California and the Midwest. Because of the difficulties in finding sufficient indicative clinical signs, additional information (detailed case history, laboratory testing for antibodies) is especially important to make the clinical diagnosis of Lyme borreliosis. This article reviews the etiology, diagnosis, therapy, and prevention of LB. Copyright © 2010 Elsevier Inc. All rights reserved.

Periodontal diseases and risk of oral cancer in Southern India: Results from the HeNCe Life study.

PubMed

Laprise, Claudie; Shahul, Hameed Puthiyannal; Madathil, Sreenath Arekunnath; Thekkepurakkal, Akhil Soman; Castonguay, Geneviève; Varghese, Ipe; Shiraz, Shameena; Allison, Paul; Schlecht, Nicolas F; Rousseau, Marie-Claude; Franco, Eduardo L; Nicolau, Belinda

2016-10-01

Some studies suggest that periodontal diseases increase the risk of oral cancer, but contradictory results also exist. Inadequate control of confounders, including life course exposures, may have influenced prior findings. We estimate the extent to which high levels of periodontal diseases, measured by gingival inflammation and recession, are associated with oral cancer risk using a comprehensive subset of potential confounders and applying a stringent adjustment approach. In a hospital-based case-control study, incident oral cancer cases (N = 350) were recruited from two major referral hospitals in Kerala, South India, from 2008 to 2012. Controls (N = 371), frequency-matched by age and sex, were recruited from clinics at the same hospitals. Structured interviews collected information on several domains of exposure via a detailed life course questionnaire. Periodontal diseases, as measured by gingival inflammation and gingival recession, were evaluated visually by qualified dentists following a detailed protocol. The relationship between periodontal diseases and oral cancer risk was assessed by unconditional logistic regression using a stringent empirical selection of potential confounders corresponding to a 1% change-in-estimates. Generalized gingival recession was significantly associated with oral cancer risk (Odds Ratio = 1.83, 95% Confidence Interval: 1.10-3.04). No significant association was observed between gingival inflammation and oral cancer. Our findings support the hypothesis that high levels of periodontal diseases increase the risk of oral cancer. © 2016 UICC.

[Clinicopathologic study of 817 enucleations].

PubMed

Gassler, N; Lommatzsch, P K

1995-11-01

The clinical findings, the indications for enucleation and the histopathological diagnoses from 817 eyes from the University Eye Hospital in Leipzig, enucleated between 01/01/1980 and 31/12/1989 (433 males; 384 females), were analysed retrospectively to investigate, however, the therapeutic and diagnostic importance of enucleation to ophthalmological problems. The most frequent underlying ocular diseases were: intraocular tumour (47.7%), surgical disease [primary glaucoma, retinal detachment, cataract] (18.6%), trauma [enucleation within 4 weeks after the event] (10.3%), systemic disease (6.6%), inflammation (6.1%), other diseases (10.7%). The final causes for enucleation were: intraocular tumour (46.4%), secondary glaucoma (31.6%), atrophia and phthisis bulbi (11.9%), inflammation (6.5%), trauma (0.9%), other diseases (2.7%). An increase in the enucleation rate was noted with increasing age. The ophthalmoscopic diagnoses of 8 i.o. malignant melanomas and 7 cases of retinoblastoma were histopathologically not verified. The histopathological diagnoses included: exudative-hemorrhagic lesion (7), metastasis (1) respectively M. Coats (3), retinal detachment (2), M. Norrie (1), panophthalmitis (1). In 2 cases of i.o. malignant melanoma and 2 cases of retinoblastoma the tumours were clinically unsuspected. The incorrect clinical diagnoses included: secondary glaucoma (2) respectively M. Coats (1), secondary glaucoma (1).

[Differential Diagnosis of Mediastinal and Hilar Lymphadenopathy with Focus on Occupational Diseases].

PubMed

Lux, H; Cavalcante, L Barreira; Baur, X

2018-06-01

Hilar and mediastinal lymphadenopathy may represent a diagnostic challenge in clinical practice. This article is intended to facilitate differential diagnosis by a systematic description of relevant pathologies, notably with occupational etiology. Clinical findings of relevant diseases, i. e. of tuberculosis, chronic beryllium disease, sarcoidosis, lung cancer, malignant lymphoma, Epstein-Barr virus infection, and histoplasmosis are compared.Case history, imaging and laboratory tests have important diagnostic impact. But also invasive methods can be necessary in order to exclude and prove malignancy, infection or autoimmune disease. © Georg Thieme Verlag KG Stuttgart · New York.

Using administrative medical claims data to supplement state disease registry systems for reporting zoonotic infections.

PubMed

Jones, Stephen G; Coulter, Steven; Conner, William

2013-01-01

To determine what, if any, opportunity exists in using administrative medical claims data for supplemental reporting to the state infectious disease registry system. Cases of five tick-borne (Lyme disease (LD), babesiosis, ehrlichiosis, Rocky Mountain spotted fever (RMSF), tularemia) and two mosquito-borne diseases (West Nile virus, La Crosse viral encephalitis) reported to the Tennessee Department of Health during 2000-2009 were selected for study. Similarly, medically diagnosed cases from a Tennessee-based managed care organization (MCO) claims data warehouse were extracted for the same time period. MCO and Tennessee Department of Health incidence rates were compared using a complete randomized block design within a general linear mixed model to measure potential supplemental reporting opportunity. MCO LD incidence was 7.7 times higher (p<0.001) than that reported to the state, possibly indicating significant under-reporting (∼196 unreported cases per year). MCO data also suggest about 33 cases of RMSF go unreported each year in Tennessee (p<0.001). Three cases of babesiosis were discovered using claims data, a significant finding as this disease was only recently confirmed in Tennessee. Data sharing between MCOs and health departments for vaccine information already exists (eg, the Vaccine Safety Datalink Rapid Cycle Analysis project). There may be a significant opportunity in Tennessee to supplement the current passive infectious disease reporting system with administrative claims data, particularly for LD and RMSF. There are limitations with administrative claims data, but health plans may help bridge data gaps and support the federal administration's vision of combining public and private data into one source.

Exertion and acute coronary artery injury.

PubMed

Black, A; Black, M M; Gensini, G

1975-12-01

Twelve cases of myocardial infarction as related to strenuous exertion are presented with the pathological findings in several of these cases. Three cases with coronary arteriography are also presented. The pathology of coronary arteriosclerotic plaques and the vulnerability to acute injury is reviewed and discussed. It is concluded that strenuous exertion can cause acute injury to coronary artery plaques due to the unusual stressful whip-like action to which coronary arteries are subject. These injuries may initiate as cracks in the plaques or subintimal hemorrhages and proceed to coronary occlusion and ultimate myocardial infarction. With this concept in mind we use the term of "crack in the plaque" (Black's Crack in the Plaque) to account for the sudden appearance of clinical coronary artery disease appearing during or shortly after exertion, or other stressful situations in patients without previous existing evidence of clinical coronary artery disease. This could also account for exacerbation of symptoms or death occurring after exertion in previously quiescent asymptomatic known coronary artery disease subjects. This concept may explain some of the puzzling features of coronary disease.

Intra cranial granulomatous disease in common variable immunodeficiency: Case series and review of the literature.

PubMed

Najem, Catherine E; Springer, Jason; Prayson, Richard; Culver, Daniel A; Fernandez, James; Tavee, Jinny; Hajj-Ali, Rula A

2018-06-01

Common variable immunodeficiency (CVID) is typically characterized by hypogammaglobulinemia and often but not always recurrent infections. Paradoxically, 8-22% of patients with CVID develop granulomatous disease. Granulomata have been described in many organs including the lungs, skin, liver, spleen, kidneys, eyes, lymph nodes, and intestines. Data about central nervous system (CNS) involvement in CVID are extremely rare. We aim to describe a case series and include an extensive literature review of CNS involvement in CVID to understand the different features and patterns of the disease. We searched the English Pubmed database for relevant articles between 1950 and 2014 using the Key Words "common variable immunodeficiency", "granulomatous disease", "brain", "sarcoidosis", and "sarcoid-like syndrome". Data from all case series, surveys, systematic reviews, and individual case reports, as well as retrospective studies were extracted. A total of 15 patients were reported in the literature. We combined our experience with four additional patients from The Cleveland Clinic between 2009 and 2014. Demographics, clinical features, laboratory and imaging findings, treatment and follow-up were extracted for the 19 patients and summarized descriptively. Female sex and Caucasian race represented 63.2% (12/19), and 80% of the patients, respectively. The mean age of CVID diagnosis was 24 years; mean age when the CNS disease was diagnosed was 21.5 years. 68.4% of the patients (13/19) had granulomas involving ≥2 organs including the central nervous system, 31.6% (6/19) had CNS granulomas only. Associated granulomatous diseases occurred in lungs (72.7%), lymph nodes (27.2%), spleen (27.2%), eyes (18.1%), liver (18.1%), parotid glands (9%), and skin (9%). Fifty-three percent (10/19) of the patients had documented recurrent infections, all of them being upper respiratory tract infections. CNS manifestations included seizures (31.6%), headaches (21%), vision loss (15.7%), decreased cognition (10.5%), focal weakness (5.2%), nystagmus (5.2%), ataxia (5.2%), coma (5.2%), polyuria, and polydipsia (5.2%). Brain mass was the most common radiologic finding (70%) followed by leptomeningeal enhancement (10%), non-specific white matter lesions (10%) and absence of normal signal of the neurohypophysis (10%). Brain pathology was available in 12 patients: findings included granulomatous disease in 83.3%, angiocentric granulomas in 50%, vasculitis without granulomas in 8.3%, and lymphocytic infiltrate of the meninges with diffuse non-caseating granulomas in 8.3%. Cerebrospinal fluid analysis revealed elevated total proteins with/or without lymphocytic pleocytosis in 80%. CNS disease is a rare challenging complication of CVID. Patients with brain involvement are generally female, Caucasian, and likely have lung involvement. Although immunoglobulin and steroids remain the first line of treatment, other immunosuppressive agents have shown some promise with regards to recurrent relapsing presentations. Copyright © 2017. Published by Elsevier Inc.

Carcinoma of the small intestine and colon as a complication of Crohn disease: radiologic manifestation

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

Kerber, G.W.; Frank, P.H.

1984-03-01

Barium examinations of the large and small bowel were analyzed in six of seven patients who had adenocarcinoma in areas of the intestine affected with Crohn disease; radiographic changes were correlated with clinical, surgical, and pathologic findings. Radiographic examinations were available in five of these patients at the time of diagnosis of tumor. Two of the five patients demonstrated classic radiographic changes associated with carcinoma. In the other three cases, the radiographic changes were atypical for carcinoma and demonstrated progression of disease over time to include more portions of the bowel and presence of fistulas, strictures, and obstruction. The mostmore » frequent clinical presentation of adenocarcinoma in these patients was a recrudescence of symptoms after a long quiescent period. In patients with long-standing Crohn disease plus these clinical features and the above radiographic findings, the diagnosis of a coexisting carcinoma should be considered.« less

Physics of Cell Adhesion Failure and Human Diseases

NASA Astrophysics Data System (ADS)

Family, Fereydoon

Emergent phenomena in living systems, including your ability to read these lines, do not obviously follow as a consequence of the fundamental laws of physics. Understanding the physics of living systems clearly falls outside the conventional boundaries of scientific disciplines and requires a collaborative, multidisciplinary approach. Here I will discuss how theoretical and computational techniques from statistical physics can be used to make progress in explaining the physical mechanisms that underlie complex biological phenomena, including major diseases. In the specific cases of macular degeneration and cancer that we have studied recently, we find that the breakdown of the mechanical stability in the local tissue structure caused by weakening of the cell-cell adhesion plays a key role in the initiation and progression of the disease. This finding can help in the development of new therapies that would prevent or halt the initiation and progression of these diseases.

Multiple tendon ruptures of unknown etiology.

PubMed

Axibal, Derek P; Anderson, John G

2013-10-01

Tendon ruptures are common findings in foot and ankle practice. The etiology of tendon ruptures tends to be multifactorial-usually due to a combination of trauma, effects of systemic diseases, adverse effects of medications, and obesity. We present an unusual case of right Achilles tendinitis, left Achilles tendon rupture, bilateral peroneus longus tendon rupture, and left peroneus brevis tendon rupture of unknown etiology. This case report highlights the need for research for other possible, lesser known etiologies of tendon pathology. Therapeutic, Level IV, Case Study.

[A text-book case of tropical facial elephantiasis].

PubMed

Dilu, N-J; Sokolo, R

2007-02-01

Tropical facial elephantiasis is a nosological entity which can arise from various underlying causes: von Recklinghausen neurofibromatosis, lymphatic and cutaneodermal filarioses, deep mycosis. We report an exceptional case of tropical facial elephantiasis caused by onchocercosis and entomophtoromycosis (rhinophycomycosis). The patient's facial morphology was noted "hippopotamus-face" or "dog-face". Onchocercosis and entomophtoromycosis are two diseases known to cause facial elephantiasis. We have not however been able to find any case report in the literature of co-morbidity nor any information on factors predictive of concomitant occurrence.

Role of occlusion in endodontic management: report of two cases.

PubMed

Yu, Christine Y

2004-12-01

The two clinical cases reported demonstrate that traumatic occlusion can play a role in the initiation and progression of pulp and periradicular inflammation. The symptom of persistent pain did not subside after the commencement of endodontic treatment. Traumatic occlusion was identified in both cases to be the main cause and hence occlusal adjustment was performed. This resulted in the gradual resolution of the symptoms. The findings suggest that occlusal trauma is often overlooked in the diagnosis and management of endodontic diseases.

Oral focal epithelial hyperplasia: report of three cases.

PubMed

Ghalayani, Parichehr; Tavakoli, Payam; Eftekhari, Mehdi; Haghighi, Mohammad Akhondzadeh

2015-01-01

Focal epithelial hyperplasia or Heck's disease is an infrequent asymptomatic condition caused by human papillomavirus types 13 or 32 affecting the mucous membrane of the mouth and is commonly seen in young individuals. Firstly, it was described in Indians and Eskimos, but it exists in various populations. We present three cases of Heck's disease in an Afghan immigrant family group living in Iran that seem to have familial predominance. The disease was identified as oral focal epithelial hyperplasia on the basis of histopathologic and clinical findings. The lesions were reduced significantly after 4 months of good oral hygiene. Dentists should be familiar with the clinical manifestations of these types of lesions that affect the oral cavity. In fact, histopathologic assessment and clinical observation are necessary to establish the diagnosis.

Cyclophotocoagulation-induced sympathetic ophthalmia in a Coats' disease patient supported by histopathology and immunohistochemistry

PubMed Central

Bawankar, Pritam; Das, Dipankar; Tayab, Shahinur; Kuri, Ganesh Chandra; Medhi, Jnanankar; Barman, Manabjyoti; Soibam, Ronel; Bhattacharjee, Harsha; Deka, Panna; Misra, Diva Kant; Dhar, Shriya

2017-01-01

We describe a case of a 13-year-old male patient of Coats' disease who developed sympathetic ophthalmia (SO) following contact diode laser cyclophotocoagulation. There was no history of invasive surgery or any perforating injuries preceding cyclodestructive therapy. The eye had neovascular glaucoma secondary to Coats' disease, which was treated once with contact cyclophotocoagulation. Subsequently, the intraocular pressure slowly decreased, and the eye became phthisical. Intraocular inflammation developed in the fellow eye and SO was suspected, which was confirmed by characteristic findings seen on fluorescein angiography. The case was successfully managed with the help of topical and systemic immunosuppression. Enucleation with silicone ball implantation was performed in the right phthisical eye and specimen was sent for histopathological examination. Histopathology and immunostaining supported the diagnosis of SO. PMID:28820164

Familial Exudative Vitreoretinopathy.

PubMed

Sızmaz, Selçuk; Yonekawa, Yoshihiro; T Trese, Michael

2015-08-01

Familial exudative vitreoretinopathy (FEVR) is a hereditary disease associated with visual loss, particularly in the pediatric group. Mutations in the NDP, FZD4, LRP5, and TSPAN12 genes have been shown to contribute to FEVR. FEVR has been reported to have X-linked recessive, autosomal dominant, and autosomal recessive inheritances. However, both the genotypic and phenotypic features are variable. Novel mutations contributing to the disease have been reported. The earliest and the most prominent finding of the disease is avascularity in the peripheral retina. As the disease progresses, retinal neovascularization, subretinal exudation, partial and total retinal detachment may occur, which may be associated with certain mutations. With early diagnosis and prompt management visual loss can be prevented with laser photocoagulation and anti-VEGF injections. In case of retinal detachment, pars plana vitrectomy alone or combined with scleral buckling should be considered. Identifying asymptomatic family members with various degrees of insidious findings is of certain importance. Wide-field imaging with fluorescein angiography is crucial in the management of this disease. The differential diagnosis includes other pediatric vitreoretinopathies such as Norrie disease, retinopathy of prematurity, and Coats' disease.

Osteomalacia associated with cutaneous psoriasis as the presenting feature of coeliac disease: a case report.

PubMed

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.

Familial Exudative Vitreoretinopathy

PubMed Central

Sızmaz, Selçuk; Yonekawa, Yoshihiro; T. Trese, Michael

2015-01-01

Familial exudative vitreoretinopathy (FEVR) is a hereditary disease associated with visual loss, particularly in the pediatric group. Mutations in the NDP, FZD4, LRP5, and TSPAN12 genes have been shown to contribute to FEVR. FEVR has been reported to have X-linked recessive, autosomal dominant, and autosomal recessive inheritances. However, both the genotypic and phenotypic features are variable. Novel mutations contributing to the disease have been reported. The earliest and the most prominent finding of the disease is avascularity in the peripheral retina. As the disease progresses, retinal neovascularization, subretinal exudation, partial and total retinal detachment may occur, which may be associated with certain mutations. With early diagnosis and prompt management visual loss can be prevented with laser photocoagulation and anti-VEGF injections. In case of retinal detachment, pars plana vitrectomy alone or combined with scleral buckling should be considered. Identifying asymptomatic family members with various degrees of insidious findings is of certain importance. Wide-field imaging with fluorescein angiography is crucial in the management of this disease. The differential diagnosis includes other pediatric vitreoretinopathies such as Norrie disease, retinopathy of prematurity, and Coats’ disease. PMID:27800225

Unexpected widespread hypophosphatemia and bone disease associated with elemental formula use in infants and children.

PubMed

Gonzalez Ballesteros, Luisa F; Ma, Nina S; Gordon, Rebecca J; Ward, Leanne; Backeljauw, Philippe; Wasserman, Halley; Weber, David R; DiMeglio, Linda A; Gagne, Julie; Stein, Robert; Cody, Declan; Simmons, Kimber; Zimakas, Paul; Topor, Lisa Swartz; Agrawal, Sungeeta; Calabria, Andrew; Tebben, Peter; Faircloth, Ruth; Imel, Erik A; Casey, Linda; Carpenter, Thomas O

2017-04-01

Hypophosphatemia occurs with inadequate dietary intake, malabsorption, increased renal excretion, or shifts between intracellular and extracellular compartments. We noticed the common finding of amino-acid based elemental formula [EF] use in an unexpected number of cases of idiopathic hypophosphatemia occurring in infants and children evaluated for skeletal disease. We aimed to fully characterize the clinical profiles in these cases. A retrospective chart review of children with unexplained hypophosphatemia was performed as cases accumulated from various centres in North America and Ireland. Data were analyzed to explore any relationships between feeding and biochemical or clinical features, effects of treatment, and to identify a potential mechanism. Fifty-one children were identified at 17 institutions with EF-associated hypophosphatemia. Most children had complex illnesses and had been solely fed Neocate® formula products for variable periods of time prior to presentation. Feeding methods varied. Hypophosphatemia was detected during evaluation of fractures or rickets. Increased alkaline phosphatase activity and appropriate renal conservation of phosphate were documented in nearly all cases. Skeletal radiographs demonstrated fractures, undermineralization, or rickets in 94% of the cases. Although the skeletal disease had often been attributed to underlying disease, most all improved with addition of supplemental phosphate or change to a different formula product. The observed biochemical profiles indicated a deficient dietary supply or severe malabsorption of phosphate, despite adequate formula composition. When transition to an alternate formula was possible, biochemical status improved shortly after introduction to the alternate formula, with eventual improvement of skeletal abnormalities. These observations strongly implicate that bioavailability of formula phosphorus may be impaired in certain clinical settings. The widespread nature of the findings lead us to strongly recommend careful monitoring of mineral metabolism in children fed EF. Transition to alternative formula use or implementation of phosphate supplementation should be performed cautiously with as severe hypocalcemia may develop. Copyright © 2017 Elsevier Inc. All rights reserved.

ApoE gene and exceptional longevity: Insights from three independent cohorts.

PubMed

Garatachea, Nuria; Emanuele, Enzo; Calero, Miguel; Fuku, Noriyuki; Arai, Yasumichi; Abe, Yukiko; Murakami, Haruka; Miyachi, Motohiko; Yvert, Thomas; Verde, Zoraida; Zea, Ma Ascensión; Venturini, Letizia; Santiago, Catalina; Santos-Lozano, Alejandro; Rodríguez-Romo, Gabriel; Ricevuti, Giovanni; Hirose, Nobuyoshi; Rábano, Alberto; Lucia, Alejandro

2014-05-01

The ApoE gene is associated with the risk of Alzheimer or cardiovascular disease but its influence on exceptional longevity (EL) is uncertain. Our primary purpose was to determine, using a case-control design, if the ApoE gene is associated with EL. We compared ApoE allele/genotype frequencies among the following cohorts: cases (centenarians, most with 1+ major disease condition; n=163, 100-111years) and healthy controls (n=1039, 20-85years) from Spain; disease-free cases (centenarians; n=79, 100-104years) and healthy controls (n=597, age 27-81years) from Italy; and cases (centenarians and semi-supercentenarians, most with 1+ major disease condition; n=729, 100-116years) and healthy controls (n=498, 23-59years) from Japan. Our main findings were twofold. First, the ε4-allele was negatively associated with EL in the three cohorts, with the following odds ratio (OR) values (adjusted by sex) having been found: 0.55 (95% confidence interval (CI): 0.33, 0.94), P=0.030 (Spain); 0.41 (95%CI: 0.18, 0.99), P=0.05 (Italy); and 0.35 (95%CI: 0.26, 0.57), P<0.001 (Japan). Second, although no association was found in the Spanish cohort (OR=1.42 (95%CI: 0.89, 2.26), P=0.145), the ε2-allele was positively associated with EL in the Italian (OR=2.14 (95%CI: 1.18, 3.45), P=0.01) and Japanese subjects (OR=1.81 (95%CI: 1.25, 2.63), P=0.002). Notwithstanding the limitations of case-control designs, our data suggest that the ApoE might be a candidate to influence EL. The ε4-allele appears to decrease the likelihood of reaching EL among individuals of different ethnic/geographic origins. An additional, novel finding of our study was that the ε2-allele might favor EL, at least in the Italian and Japanese cohorts. Copyright © 2014 Elsevier Inc. All rights reserved.

Myelitis transverse in Sjögren's syndrome and systemic lupus erythematosus: presentation of 3 cases.

PubMed

Menor Almagro, Raúl; Ruiz Tudela, María del Mar; Girón Úbeda, Juan; Cardiel Rios, Mario H; Pérez Venegas, José Javier; García Guijo, Carmen

2015-01-01

Transverse myelitis is a rare focal inflammation of the spinal cord. Multiple etiologies have been identified including autoimmune diseases, mainly systemic lupus erythematosus and Sjögren' syndrome. It can occur in an acute or subacute clinical onset, with the acute presentation having a worse prognosis. An early diagnosis and intensive treatment are important features recommended in these patients. We present three cases with transverse myelitis associated with autoimmune diseases. We discuss different clinical manifestations, association with autoantobodies, radiologic findings, and therapeutic and prognostic issues. Copyright © 2013 Elsevier España, S.L.U. All rights reserved.

Ulcerative Lesions: A Rare Cutaneous Manifestation of Brucellosis.

PubMed

Azadi, Abbas; Jafarpour Fard, Payman; Almasian, Mohammad

2018-01-01

Brucellosis is a disease that is transmitted from animals to humans mainly via the consumption of unpasteurized dairy products, and it can involve any organ all over the body. Here, we report a significant rare case of brucellosis with cutaneous manifestations in a 52-year-old male patient whose disease was diagnosed via a serology test. The patient received standard antibiotic treatment, and his cutaneous lesions healed quickly. Although the cutaneous manifestations of brucellosis are exceedingly rare, in case of encountering ulcerative lesions and other cutaneous findings, particularly in endemic areas, infection with brucellosis should be kept in mind as an important differential diagnosis.

Sarcoidosis with prominent necrosis on histopathology.

PubMed

Rosenstein, Rachel; Orme, Charisse; Kim, Randie H; Meehan, Shane A; Femia, Alisa

2016-12-15

Sarcoidosis is a multiorgan inflammatory diseasewith variable clinical presentations and the commonhistopathologic finding of noncaseating granulomas.The etiology of the disease is not known, butevidence suggests both environmental and geneticcontributions to the pathogenesis. Depending onthe severity of cutaneous disease and extent ofextracutaneous involvement, therapies range fromtopical and intralesional glucocorticoids to systemicimmunomodulatory and immunosuppressiveagents. We present the case of a patient withcutaneous sarcoidosis with prominent necrosis onhistopathologic examination in the setting of severepulmonary sarcoidosis.

Craniofacial melorheostosis.

PubMed

McDermott, Meredith; Branstetter, Barton F; Seethala, Raja R

2008-01-01

Melorheostosis is a rare benign disease of cortical bone most frequently presenting as peripheral hyperostosis with a characteristic "melting wax" appearance on conventional radiographs. The disease most frequently affects the appendicular skeleton and is seen only rarely in the craniofacial bones. We discuss a case of melorheostosis in the nasal cavity and skull base with an atypical radiographic appearance and suggest findings that may differentiate craniofacial melorheostosis from more common entities in this region.

[Benign proliferative breast disease with and without atypia].

PubMed

Coutant, C; Canlorbe, G; Bendifallah, S; Beltjens, F

2015-12-01

In the last few years, diagnostics of high-risk breast lesions (atypical ductal hyperplasia [ADH], flat epithelial atypia [FEA], lobular neoplasia: atypical lobular hyperplasia [ALH], lobular carcinoma in situ [LCIS], radial scar [RS], usual ductal hyperplasia [UDH], adenosis, sclerosing adenosis [SA], papillary breast lesions, mucocele-like lesion [MLL]) have increased with the growing number of breast percutaneous biopsies. The management of these lesions is highly conditioned by the enlarged risk of breast cancer combined with either an increased probability of finding cancer after surgery, either a possible malignant transformation (in situ or invasive cancer), or an increased probability of developing cancer on the long range. An overview of the literature reports grade C recommendations concerning the management and follow-up of these lesions: in case of ADH, FEA, ALH, LCIS, RS, MLL with atypia, diagnosed on percutaneous biopsies: surgical excision is recommended; in case of a diagnostic based on vacuum-assisted core biopsy with complete disappearance of radiological signal for FEA or RS without atypia: surgical abstention is a valid alternative approved by multidisciplinary meeting. In case of ALH (incidental finding) associated with benign lesion responsible of radiological signal: abstention may be proposed; in case of UDH, adenosis, MLL without atypia, diagnosed on percutaneous biopsies: the concordance of radiology and histopathology findings must be ensured. No data is available to recommend surgery; in case of non-in sano resection for ADH, FEA, ALH, LCIS (except pleomorphic type), RS, MLL: surgery does not seem to be necessary; in case of previous ADH, ALH, LCIS: a specific follow-up is recommended in accordance with HAS's recommendations. In case of FEA and RS or MLL combined with atypia, little data are yet available to differ the management from others lesions with atypia; in case of UDH, usual sclerosing adenosis, RS without atypia, fibro cystic disease: no specific follow-up is recommended in agreement with HAS's recommendations. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

Effective and less invasive diagnostic strategy for gastrointestinal GVHD

PubMed Central

Endo, Katsuya; Fujishima, Fumiyoshi; Kuroha, Masatake; Moroi, Rintaro; Onodera, Motoyuki; Naito, Takeo; Kanazawa, Yoshitake; Kimura, Tomoya; Shiga, Hisashi; Kakuta, Yoichi; Kinouchi, Yoshitaka; Shimosegawa, Tooru

2018-01-01

Background and study aims  Rectosigmoidoscopy with biopsy has been regarded to be a useful procedure to diagnose gastrointestinal graft-versus-host disease (GVHD). However, little is known about the specific colonoscopic features of gastrointestinal GVHD. In this study, we focused on the 4 unique colonoscopic findings – orange peel appearance, spotty redness, small mucosal sloughing, and diffuse mucosal defect – which are possible specific findings of gastrointestinal GVHD. We aimed to estimate the usefulness of these four unique colonoscopic findings in the rectosigmoid portion to diagnose gastrointestinal GVHD. Patients and methods  Seventy patients who were histologically diagnosed with gastrointestinal GVHD at our institute were retrospectively enrolled. Colonoscopic findings were reviewed, focusing on the four characteristic findings. The percentage of the positive cases for the characteristic findings was calculated. The final scoping portion and the number of cases showing any of the four characteristic findings in the rectosigmoid portion were also evaluated. The relationships between biopsy sites and the histological findings were also evaluated. Results  Orange peel appearance was observed in 66 cases (94.3 %). Spotty redness was observed in 45 cases (64.3 %). Small mucosal sloughing was observed in 49 cases (70.0 %). Diffuse mucosal defect was observed in six cases (8.6 %). The number of cases that were concurrently positive for one, two, and three findings were 16 (20.8 %), 20 (26.0 %), and 34 (48.6 %), respectively. Fifty-eight cases (82.9 %) were investigated up to the rectosigmoid portion, and 12 (17.1 %) were investigated beyond the sigmoid colon. All of the cases showed at least 1 of the 4 characteristics in the rectosigmoid portion. The percentage of crypt apoptosis in the biopsy specimen from orange peel appearance, spotty redness, small mucosal sloughing, and diffuse mucosal defect were 87.5 %, 83.3 %, 87.2 %, and 88.9 %, respectively. Conclusion  Orange peel appearance, spotty redness, small mucosal sloughing, and diffuse mucosal defect are the characteristic colonoscopic findings useful for diagnosis of gastrointestinal GVHD. These findings are frequently observed in the rectosigmoid portion. The histological detection rates for crypt cell apoptosis from these findings are high. Identifying the four characteristic findings on rectosigmoidoscopy and taking biopsies from these areas could be essential for the diagnostic strategy for gastrointestinal GVHD. PMID:29507868

[Sarcoidosis of the female genital tract].

PubMed

Šefčíková, A; Turková, M; Žurková, M

To present the findings of sarcoidosis on female genital tract. Review. Department of Obstetric and Gynecology, Silesian Hospital Opava. Overview of published findings from case studies. Sarcoidosis is a multisystem granulomatous disorder of unclear cause. It typically involves the lymph nodes of mediastinum, predominantly billateral and/or pulmonary infiltrates. We find extrapulmonary involvement in 30-50% of cases. Sarcoidosis of the female reproductive system is a rare, it represent less than 1% cases of sarcoidosis. Lesions there may affect any organ, including the vulva, vagina, cervix, uterus, fallopian tube and ovary, but also for example placenta and breast. There is also recorded the incidence of multiple localization on female genitalia. Since sarcoidosis of this area is so rare, often proceeds asymptomatic and recognized only as an incidental finding, there are mention only the case histories in literature yet.Clinical symptoms may be non-specific, often imitating a tumor, or tend to be specific, depending on the localization of disability such as perineal pain, pain in the scar after the previous birth trauma, persistent pruritus, itching, irritation, dyspareunia, menstrual cycle disorders, menorrhagia, metrorrhagia, postmenopausal bleeding, amenorrhoe, abdominal pain, endometrial polypoid lesions, recurrent or persistent serometra or discharge. The diagnosis is made up of histologically - we are demonstrating noncaseating granulomas.The therapy is difficult, there are no available official guidelines. If the lesions are clinically silent, we can observed them because they may spontaneously disappear. If we are embarking on medical therapy, we start from a local application, and if this is unsuccessful then we approach the systemic administration. Corticosteroids are the drug of choice. If we diagnose the sarcoidosis of the female genital organs we must exclude systemic disease of sarcoidosis. The prognosis of disease is good.

IgG4 related sclerosing mastitis: expanding the morphological spectrum of IgG4 related diseases.

PubMed

Chougule, Abhijit; Bal, Amanjit; Das, Ashim; Singh, Gurpreet

2015-01-01

IgG4 related disease (IgG4RD) is a recently recognised condition characterised by mass forming lesions associated with storiform fibrosis, obliterative phlebitis, lymphoplasmacytic infiltrate rich in IgG4 positive plasma cells and elevated serum IgG4 levels. Although rare, mammary involvement has been reported as IgG4 related sclerosing mastitis, the morphological counterpart of a growing family of IgG4 related diseases. A total of 17 cases belonging to mass forming benign inflammatory breast lesions such as plasma cell mastitis, granulomatous lobular mastitis, non-specific mastitis and inflammatory pseudotumour were investigated as a possible member of IgG4 related sclerosing mastitis. Clinical, radiological, histopathological and immunohistochemistry findings were noted in all cases. Cases diagnosed as inflammatory pseudotumour showed all the histopathological features of IgG4RD along with increased number of IgG4 positive plasma cells and IgG4/IgG ratio >40%. However, only a few IgG4 positive cells were seen in plasma cell mastitis, granulomatous lobular mastitis and non-specific mastitis cases. These cases also did not fulfill the morphological criteria for the diagnosis of IgG4 related diseases. IgG4RD should be excluded in plasma cell rich lesions diagnosed on core biopsies by IgG4 immunostaining. This can avoid unnecessary surgery as IgG4 related diseases respond to simple and effective steroid treatment.

Lung ultrasound has limited diagnostic value in rare cystic lung diseases: a cross-sectional study

PubMed Central

Davidsen, Jesper Rømhild; Bendstrup, Elisabeth; Henriksen, Daniel P.; Graumann, Ole; Laursen, Christian B.

2017-01-01

ABSTRACT Background: Lung ultrasound (LUS) used to identify interstitial syndrome (IS) and pleural thickening related to diffuse parenchymal lung disease (DPLD) has shown significant correlations with ground glass opacity (GGO) on high-resolution computed tomography (HRCT). However, the applicability of LUS in patients with DPLD subtypes as rare cystic lung diseases has not previously been investigated. This study aimed to observe if distinctive LUS findings could be found in patients with lymphangioleiomyomatosis (LAM), pulmonary Langerhans cell histiocytosis (PLCH), and Birt-Hogg-Dubé syndrome (BHDS). Methods: This single centre case-based cross-sectional study of patients diagnosed with LAM, PCLH and BHDS was conducted at a Danish DPLD specialist centre. Patients underwent clinical examination including LUS. LUS findings were compared to findings scored according to a modified Belmaati score on HRCT and reviewed in consensus between two pulmonologists and one radiologist. Results: Twelve patients with HRCT proven cystic lung disease were included, six with LAM, three with PLCH, two with BHDS, and one with uncharacteristic cystic lung disease. The mean age was 48.7 years (SD ± 15.8). In general all had normal LUS findings. IS could not be found in any patients despite GGO presentation on HRCT among 75% of the patients with a Belmaati in the highest category of 0.76–1.00. Pleural thickening on LUS was present in three patients, but with inconsistent findings. Conclusion: This study indicates that LUS has limited value as a diagnostic tool in patients with LAM, PLCH, and BHDS as normal LUS findings did not rule out severe cystic lung disease. PMID:28649310

Autoimmune Hepatitis: Diagnostic Dilemma When It Is Disguised as Iron Overload Syndrome.

PubMed

Acharya, Gyanendra K; Liao, Hung-I; Frunza-Stefan, Simona; Patel, Ronakkumar; Khaing, Moe

2017-09-01

Elevated serum ferritin level is a common finding in iron overload syndrome, autoimmune and viral hepatitis, alcoholic and nonalcoholic fatty liver diseases. High transferrin saturation is not a common finding in above diseases except for iron overload syndrome. We encountered a challenging case of 73-year-old female who presented with yellowish discoloration of skin, dark color urine and dull abdominal pain. Initial laboratory tests reported mild anemia; elevated bilirubin, liver enzymes, and transferrin saturation. We came to the final diagnosis of autoimmune hepatitis after extensive workups. Autoimmune hepatitis is a rare disease, and the diagnosis can be further complicated by a similar presentation of iron overload syndrome. Markedly elevated transferrin saturation can simulate iron overload syndrome, but a liver biopsy can guide physicians to navigate the diagnosis.

Life-threatening gastrointestinal system bleeding in Hodgkin disease: multidetector CT findings and review of the literature.

PubMed

Akpinar, Erhan; Türkbey, Bariş; Cil, Barbaros Erhan; Canyiğit, Murat; Dündar, Ziya; Balkanci, Ferhun

2007-06-01

Acute lower gastrointestinal system (GIS) bleeding is a life-threatening condition. Immediate determination of the origin of the bleeding is crucial, since hemostatic management must be initiated as rapidly as possible. Colonoscopy, radionuclide studies, and conventional angiography are considered the most important methods for assessing the origin of the bleeding. There are few published reports about the feasibility of computed tomography (CT) in acute GIS bleeding. We present multidetector CT (MDCT) findings in a case of Hodgkin disease status one month post-chemotherapy (CHOP protocol; cyclophosphamide, doxorubicin, vincristine, prednisone) that presented with acute lower GIS bleeding.

Dense genotyping of immune-related loci implicates host responses to microbial exposure in Behçet's disease susceptibility.

PubMed

Takeuchi, Masaki; Mizuki, Nobuhisa; Meguro, Akira; Ombrello, Michael J; Kirino, Yohei; Satorius, Colleen; Le, Julie; Blake, Mary; Erer, Burak; Kawagoe, Tatsukata; Ustek, Duran; Tugal-Tutkun, Ilknur; Seyahi, Emire; Ozyazgan, Yilmaz; Sousa, Inês; Davatchi, Fereydoun; Francisco, Vânia; Shahram, Farhad; Abdollahi, Bahar Sadeghi; Nadji, Abdolhadi; Shafiee, Niloofar Mojarad; Ghaderibarmi, Fahmida; Ohno, Shigeaki; Ueda, Atsuhisa; Ishigatsubo, Yoshiaki; Gadina, Massimo; Oliveira, Sofia A; Gül, Ahmet; Kastner, Daniel L; Remmers, Elaine F

2017-03-01

We analyzed 1,900 Turkish Behçet's disease cases and 1,779 controls genotyped with the Immunochip. The most significantly associated SNP was rs1050502, a tag SNP for HLA-B*51. In the Turkish discovery set, we identified three new risk loci, IL1A-IL1B, IRF8, and CEBPB-PTPN1, with genome-wide significance (P < 5 × 10 -8 ) by direct genotyping and ADO-EGR2 by imputation. We replicated the ADO-EGR2, IRF8, and CEBPB-PTPN1 loci by genotyping 969 Iranian cases and 826 controls. Imputed data in 608 Japanese cases and 737 controls further replicated ADO-EGR2 and IRF8, and meta-analysis additionally identified RIPK2 and LACC1. The disease-associated allele of rs4402765, the lead marker at IL1A-IL1B, was associated with both decreased IL-1α and increased IL-1β production. ABO non-secretor genotypes for two ancestry-specific FUT2 SNPs showed strong disease association (P = 5.89 × 10 -15 ). Our findings extend the list of susceptibility genes shared with Crohn's disease and leprosy and implicate mucosal factors and the innate immune response to microbial exposure in Behçet's disease susceptibility.

Dense genotyping of immune-related loci implicates host responses to microbial exposure in Behçet’s disease susceptibility

PubMed Central

Takeuchi, Masaki; Mizuki, Nobuhisa; Meguro, Akira; Ombrello, Michael J.; Kirino, Yohei; Satorius, Colleen; Le, Julie; Blake, Mary; Erer, Burak; Kawagoe, Tatsukata; Ustek, Duran; Tugal-Tutkun, Ilknur; Seyahi, Emire; Ozyazgan, Yilmaz; Sousa, Inês; Davatchi, Fereydoun; Francisco, Vânia; Shahram, Farhad; Abdollahi, Bahar Sadeghi; Nadji, Abdolhadi; Shafiee, Niloofar Mojarad; Ghaderibarmi, Fahmida; Ohno, Shigeaki; Ueda, Atsuhisa; Ishigatsubo, Yoshiaki; Gadina, Massimo; Oliveira, Sofia A.; Gül, Ahmet; Kastner, Daniel L.; Remmers, Elaine F.

2017-01-01

We analyzed 1,900 Turkish Behçet’s disease cases and 1,779 controls genotyped with the Immunochip. The most significantly associated single nucleotide polymorphism (SNP) was rs1050502, a tag SNP for HLA-B*51. In the Turkish discovery set, we identified three novel loci, IL1A-IL1B, IRF8, and CEBPB-PTPN1, with genome-wide significance (P<5×10−8) by direct genotyping, and ADO-EGR2 by imputation. ADO-EGR2, IRF8, and CEBPB-PTPN1 replicated by genotyping 969 Iranian cases and 826 controls. Imputed data in 608 Japanese cases and 737 controls replicated ADO-EGR2 and IRF8 and meta-analysis additionally identified RIPK2 and LACC1. The disease-associated allele of rs4402765, the lead marker of the IL1A-IL1B locus, was associated with both decreased interleukin-1α and increased interleukin-1β production. ABO non-secretor genotypes of two ancestry-specific FUT2 SNPs showed strong disease association (P=5.89×10−15). Our findings extend shared susceptibility genes with Crohn’s disease and leprosy, and implicate mucosal factors and the innate immune response to microbial exposure in Behçet’s disease susceptibility. PMID:28166214

Soluble CD26/CD30 levels in visceral leishmaniasis: markers of disease activity

PubMed Central

Ajdary, S; Riazi-Rad, F; Jafari-Shakib, R; Mohebbali, M

2006-01-01

Leishmania infantum is the causative agent of zoonotic visceral leishmaniasis (VL). If untreated the disease could be fatal; however, in some cases the infection can run a subclinical course. In subclinical infections a Th1-response predominates, while Th2-responses and/or probably Treg cells are related to unfavourable outcome of the disease in active VL. In the present study we determined the levels of soluble (s) CD26 and CD30 co-stimulatory molecules in sera from patients with active VL, asymptomatic individuals and healthy volunteers. Results showed a significant difference in both sCD26 and sCD30 between infected cases and normal individuals (P ≤ 0·001). However, there was no significant difference in sCD26 levels between asymptomatic cases and patients, although the difference was not significant. sCD30 levels were significantly higher in VL patients than asymptomatic cases (P ≤ 0·001). These findings suggest a possible association between sCD26 and sCD30 levels and the clinical manifestation of L. infantum infection. PMID:16792672

Genome-wide association analysis of secondary imaging phenotypes from the Alzheimer's disease neuroimaging initiative study.

PubMed

Zhu, Wensheng; Yuan, Ying; Zhang, Jingwen; Zhou, Fan; Knickmeyer, Rebecca C; Zhu, Hongtu

2017-02-01

The aim of this paper is to systematically evaluate a biased sampling issue associated with genome-wide association analysis (GWAS) of imaging phenotypes for most imaging genetic studies, including the Alzheimer's Disease Neuroimaging Initiative (ADNI). Specifically, the original sampling scheme of these imaging genetic studies is primarily the retrospective case-control design, whereas most existing statistical analyses of these studies ignore such sampling scheme by directly correlating imaging phenotypes (called the secondary traits) with genotype. Although it has been well documented in genetic epidemiology that ignoring the case-control sampling scheme can produce highly biased estimates, and subsequently lead to misleading results and suspicious associations, such findings are not well documented in imaging genetics. We use extensive simulations and a large-scale imaging genetic data analysis of the Alzheimer's Disease Neuroimaging Initiative (ADNI) data to evaluate the effects of the case-control sampling scheme on GWAS results based on some standard statistical methods, such as linear regression methods, while comparing it with several advanced statistical methods that appropriately adjust for the case-control sampling scheme. Copyright © 2016 Elsevier Inc. All rights reserved.

Leptospirosis Outbreak in Sri Lanka in 2008: Lessons for Assessing the Global Burden of Disease

PubMed Central

Agampodi, Suneth B.; Peacock, Sharon J.; Thevanesam, Vasanthi; Nugegoda, Danaseela B.; Smythe, Lee; Thaipadungpanit, Janjira; Craig, Scott B.; Burns, Mary Ann; Dohnt, Michael; Boonsilp, Siriphan; Senaratne, Thamarasi; Kumara, Athula; Palihawadana, Paba; Perera, Sahan; Vinetz, Joseph M.

2011-01-01

Global leptospirosis disease burden estimates are hampered by the lack of scientifically sound data from countries with probable high endemicity and limited diagnostic capacities. We describe the seroepidemiologic and clinical characteristics of the leptospirosis outbreak in 2008 in Sri Lanka. Definitive/presumptive case definitions proposed by the World Health Organization Leptospirosis Epidemiology Reference Group were used for case confirmation. Of the 404 possible cases, 155 were confirmed to have leptospirosis. Highest titers of patient seum samples reacted with serovars Pyrogenes (28.7%), Hardjo (18.8%), Javanica (11.5%), and Hebdomadis (11.5%). Sequencing of the 16S ribosomal DNA gene identified six infections: five with Leptospira interrogans and one with L. weilli. In this patient population, acute renal failure was the main complication (14.8%), followed by myocarditis (7.1%) and heart failure (3.9%). The case-fatality rate was 1.3%. This report strengthens the urgent need for increasing laboratory diagnostic capabilities to determine the causes of epidemic and endemic infectious diseases in Sri Lanka, a finding relevant to other tropical regions. PMID:21896807

F-18 FDG PET/CT findings of a case of sacral nerve root neurolymphomatosis that occurred during chemotherapy.

PubMed

Suga, Kazuyoshi; Yasuhiko, Kawakami; Matsunaga, Naofumi; Yujiri, Toshiaki; Nakazora, Tatsuki; Ariyoshi, Kouichi

2011-01-01

Neurolymphomatosis (NL) is a rare, unique subtype of lymphomatous infiltration of peripheral nerves. Clinical/radiologic diagnosis of NL is challenging. We report F-18 FDG PET/CT findings of a case of breast diffuse large B-cell lymphoma, in which NL developed regardless of regression of systemic lesions during induction chemotherapy. FDG PET/CT showed characteristic findings of well-demarcated, linear abnormal FDG uptake along a sacral vertebral foramen, leading to diagnosis of NL, with the finding of thickened nerve roots on magnetic resonance imaging. Altered chemotherapeutic regimen resulted in disappearance of these abnormal FDG uptake, with recovery of neurologic symptoms. Peripheral nerve NL may occur during chemotherapy, and FDG PET/CT can be a useful imaging modality in diagnosis and monitoring of therapeutic response of this disease.

Distantiae Transmission of Trypanosoma cruzi: A New Epidemiological Feature of Acute Chagas Disease in Brazil

PubMed Central

Xavier, Samanta Cristina das Chagas; Roque, André Luiz Rodrigues; Bilac, Daniele; de Araújo, Vitor Antônio Louzada; Neto, Sócrates Fraga da Costa; Lorosa, Elias Seixas; da Silva, Luiz Felipe Coutinho Ferreira; Jansen, Ana Maria

2014-01-01

Background The new epidemiological scenario of orally transmitted Chagas disease that has emerged in Brazil, and mainly in the Amazon region, needs to be addressed with a new and systematic focus. Belém, the capital of Pará state, reports the highest number of acute Chagas disease (ACD) cases associated with the consumption of açaí juice. Methodology/Principal Findings The wild and domestic enzootic transmission cycles of Trypanosoma cruzi were evaluated in the two locations (Jurunas and Val-de Cães) that report the majority of the autochthonous cases of ACD in Belém city. Moreover, we evaluated the enzootic cycle on the three islands that provide most of the açaí fruit that is consumed in these localities. We employed parasitological and serological tests throughout to evaluate infectivity competence and exposure to T. cruzi. In Val-de-Cães, no wild mammal presented positive parasitological tests, and 56% seroprevalence was observed, with low serological titers. Three of 14 triatomines were found to be infected (TcI). This unexpected epidemiological picture does not explain the high number of autochthonous ACD cases. In Jurunas, the cases of ACD could not be autochthonous because of the absence of any enzootic cycle of T. cruzi. In contrast, in the 3 island areas from which the açaí fruit originates, 66.7% of wild mammals and two dogs displayed positive hemocultures, and 15.6% of triatomines were found to be infected by T. cruzi. Genotyping by mini-exon gene and PCR-RFLP (1f8/Akw21I) targeting revealed that the mammals and triatomines from the islands harbored TcI and Trypanosoma rangeli in single and mixed infections. Conclusion/Significance These findings show that cases of Chagas disease in the urban area of Belém may be derived from infected triatomines coming together with the açaí fruits from distant islands. We term this new epidemiological feature of Chagas disease as “Distantiae transmission”. PMID:24854494

Rare case of Takayasu's arteritis associated with Crohn's disease.

PubMed

Kusunoki, Ryusaku; Ishihara, Shunji; Sato, Mariko; Sumita, Yoshiko; Mishima, Yoshiyuki; Okada, Mayumi; Tada, Yasumasa; Oka, Akihiko; Fukuba, Nobuhiko; Oshima, Naoki; Moriyama, Ichiro; Yuki, Takafumi; Sato, Shuichi; Amano, Yuji; Murakawa, Yohko; Kinoshita, Yoshikazu

2011-01-01

Takayasu's arteritis (TA) and Crohn's disease (CD) are chronic inflammatory diseases of uncertain etiology. Although co-existence of these rare diseases is estimated to occur in 1 in 10 billion individuals, a theoretically unexpected association has been reported in several patients and it is suggested that those associations may have been more than an unusual coincidence. Herein, we report a case of TA associated with clinically inactive CD. A Japanese woman was diagnosed with colonic CD at the age of 15, developed aortic valve regurgitation at 19, and then presented with general fatigue, low grade fever, and painful sensations in her left arm at 25. She was diagnosed with TA based on computed tomography scanning and magnetic resonance angiography findings, and treatments with prednisolone and cyclosporine were started. Thereafter, valve replacement and right coronary artery bypass graft surgery were performed. The possible pathophysiological mechanism responsible for concurrent existence of TA and CD may be associated with immune disorders. Early diagnosis of vascular lesions for patients with inflammatory bowel disease is highly encouraged.

Surveillance should be strengthened to improve epidemiological understandings of mosquito-borne Barmah Forest virus infection.

PubMed

Ehlkes, Lutz; Eastwood, Keith; Webb, Cameron; Durrheim, David

2012-07-01

Barmah Forest virus (BFV) is a mosquito-borne virus causing epidemic polyarthritis in Australia. This study used case follow-up of cases from the surveillance system to demonstrate that routinely collected BFV notification data were an unreliable indicator of the true location of exposure. BFV notifications from June 2001 to May 2011 were extracted from the New South Wales (NSW) Notifiable Conditions Information Management System to study case distribution. Disease cluster analysis was performed using spatial scan statistics. Exposure history data were collected from cases notified in 2010 and 2011 to accurately determine travel to high-risk areas. Cluster analysis using address data identified an area of increased BFV disease incidence in the mid-north coast of NSW contiguous with estuarine wetlands. When travel to this area was investigated, 96.7% (29/30) cases reported having visited coastal regions within four weeks of developing symptoms. Along the central NSW coastline, extensive wetlands occur in close proximity to populated areas. These wetlands provide ideal breeding habitats for a range of mosquito species implicated in the transmission of BFV. This is the first study to fully assess case exposure with findings suggesting that sporadic cases of BFV in people living further away from the coast do not reflect alternative exposure sites but are likely to result from travel to coastal regions. Spatial analysis by case address alone may lead to inaccurate understandings of the true distribution of arboviral diseases. Subsequently, this information has important implications for the collection of mosquito-borne disease surveillance information and public health response strategies.

Structured review: evaluating the effectiveness of nurse case managers in improving health outcomes in three major chronic diseases.

PubMed

Sutherland, Debbie; Hayter, Mark

2009-11-01

This paper presents the findings of a review and appraisal of the evidence for the effectiveness of nurse case management in improving health outcomes for patients living either with Diabetes, Chronic Obstructive Pulmonary Disease or Coronary Heart Disease. Long term chronic health conditions provide some of the greatest challenges to western health care systems. In the UK, three of the most significant chronic conditions are Diabetes, Chronic Obstructive Pulmonary Disease and Coronary Heart Disease. Patients with these long term conditions are high users of health services who often receive unplanned, poorly co-ordinated, ad-hoc care in response to an exacerbation or crisis. To counter this, the nurse case manager is identified as a central aspect of improving care for these patients. However, the evidence for the effectiveness of nurse case management in improving health outcomes for the chronically ill is scarce. A structured review of the literature. The review was undertaken focussing on studies that evaluated nurse case management with one or all of the three major long term chronic conditions. A total of 108 papers were initially reviewed and filtered to leave 75 citations that were appraised. About 18 papers were finally included in the review and subject to thematic analysis based on the health outcomes evaluated in the studies. Significantly positive results were reported for nurse case management impact on five health outcomes; 'objective clinical measurements', 'quality of life and functionality', 'patient satisfaction', 'adherence to treatment' and 'self care and service use'. The evidence generated in this review suggests that nurse case managers have the potential to achieve improved health outcomes for patients with long term conditions. Further research is required to support role development and create a more targeted approach to the intervention.

Risk factors for fatal outcome from rocky mountain spotted Fever in a highly endemic area-Arizona, 2002-2011.

PubMed

Regan, Joanna J; Traeger, Marc S; Humpherys, Dwight; Mahoney, Dianna L; Martinez, Michelle; Emerson, Ginny L; Tack, Danielle M; Geissler, Aimee; Yasmin, Seema; Lawson, Regina; Williams, Velda; Hamilton, Charlene; Levy, Craig; Komatsu, Ken; Yost, David A; McQuiston, Jennifer H

2015-06-01

Rocky Mountain spotted fever (RMSF) is a disease that now causes significant morbidity and mortality on several American Indian reservations in Arizona. Although the disease is treatable, reported RMSF case fatality rates from this region are high (7%) compared to the rest of the nation (<1%), suggesting a need to identify clinical points for intervention. The first 205 cases from this region were reviewed and fatal RMSF cases were compared to nonfatal cases to determine clinical risk factors for fatal outcome. Doxycycline was initiated significantly later in fatal cases (median, day 7) than nonfatal cases (median, day 3), although both groups of case patients presented for care early (median, day 2). Multiple factors increased the risk of doxycycline delay and fatal outcome, such as early symptoms of nausea and diarrhea, history of alcoholism or chronic lung disease, and abnormal laboratory results such as elevated liver aminotransferases. Rash, history of tick bite, thrombocytopenia, and hyponatremia were often absent at initial presentation. Earlier treatment with doxycycline can decrease morbidity and mortality from RMSF in this region. Recognition of risk factors associated with doxycycline delay and fatal outcome, such as early gastrointestinal symptoms and a history of alcoholism or chronic lung disease, may be useful in guiding early treatment decisions. Healthcare providers should have a low threshold for initiating doxycycline whenever treating febrile or potentially septic patients from tribal lands in Arizona, even if an alternative diagnosis seems more likely and classic findings of RMSF are absent. Published by Oxford University Press on behalf of the Infectious Diseases Society of America 2015. This work is written by (a) US Government employee(s) and is in the public domain in the US.

Prevalence of Atherosclerotic Coronary Stenosis in Asymptomatic North Indian Population: A Post-mortem Coronary Angiography Study.

PubMed

Bansal, Yogender Singh; Mandal, Shatrugan Prasad; Kumar, Senthil; Setia, Puneet

2015-09-01

A preliminary study of coronaries using post-mortem angiography was undertaken to see the prevalence of atherosclerotic coronary stenosis in non-cardiac unnatural deaths. This study was conducted in a tertiary care centre located in Chandigarh. A total of 128 medico-legal cases were studied comprising 88 males and 40 females. Post-mortem examinations of these MLC cases were conducted in the Department of Forensic Medicine, PGIMER, Chandigarh. All hearts were visually screened by post-mortem coronary angiography first and then grossly examined using serial transverse incision technique in positive screening cases to find the degree of narrowing. Of the study group, 34% males and 20% females showed evidence of narrowing on angiography. Of the males showing coronary stenosis, 83% had single vessel disease and 13% had double vessel disease, while only one individual had triple vessel disease. In cases of female, all the cases of coronary stenosis were single vessel disease. Left anterior descending coronary artery (LAD) was the most common vessel involved, followed by right coronary artery (RCA) & Left circumflex artery (LCX) and in cases of double vessel disease, LAD in combination with LCX was responsible for 75% of the cases. Remarkably 23.6% of study population in the age group of less than 40 years showed appreciable narrowing in at least one of the coronaries. In general, the prevalence of CAD is on the rise, particularly in younger population owing to the changes in their lifestyle and food habits. This preliminary study revealed evidence of narrowing of at least one coronary in 34% male and 20% female population and 23.6% subjects were less than 40 years old. Further detailed studies are needed especially in younger age group and to support the need for preventive cardiology in the early years of life.

Missed Diagnosis of Cardiovascular Disease in Outpatient General Medicine: Insights from Malpractice Claims Data.

PubMed

Quinn, Gene R; Ranum, Darrell; Song, Ellen; Linets, Margarita; Keohane, Carol; Riah, Heather; Greenberg, Penny

2017-10-01

Diagnostic errors are an underrecognized source of patient harm, and cardiovascular disease can be challenging to diagnose in the ambulatory setting. Although malpractice data can inform diagnostic error reduction efforts, no studies have examined outpatient cardiovascular malpractice cases in depth. A study was conducted to examine the characteristics of outpatient cardiovascular malpractice cases brought against general medicine practitioners. Some 3,407 closed malpractice claims were analyzed in outpatient general medicine from CRICO Strategies' Comparative Benchmarking System database-the largest detailed database of paid and unpaid malpractice in the world-and multivariate models were created to determine the factors that predicted case outcomes. Among the 153 patients in cardiovascular malpractice cases for whom patient comorbidities were coded, the majority (63%) had at least one traditional cardiac risk factor, such as diabetes, tobacco use, or previous cardiovascular disease. Cardiovascular malpractice cases were more likely to involve an allegation of error in diagnosis (75% vs. 47%, p <0.0001), have high clinical severity (86% vs. 49%, p <0.0001) and result in death (75% vs. 27%, p <0.0001), as compared to noncardiovascular cases. Initial diagnoses of nonspecific chest pain and mimics of cardiovascular pain (for example, esophageal disease) were common and independently increased the likelihood of a claim resulting in a payment (p <0.01). Cardiovascular malpractice cases against outpatient general medicine physicians mostly occur in patients with conventional risk factors for coronary artery disease and are often diagnosed with common mimics of cardiovascular pain. These findings suggest that these patients may be high-yield targets for preventing diagnostic errors in the ambulatory setting. Copyright © 2017 The Authors. Published by Elsevier Inc. All rights reserved.

Autopsy interrogation of emergency medicine dispute cases: how often are clinical diagnoses incorrect?

PubMed

Liu, Danyang; Gan, Rongchang; Zhang, Weidi; Wang, Wei; Saiyin, Hexige; Zeng, Wenjiao; Liu, Guoyuan

2018-01-01

Emergency medicine is a 'high risk' specialty. Some diseases develop suddenly and progress rapidly, and sudden unexpected deaths in the emergency department (ED) may cause medical disputes. We aimed to assess discrepancies between antemortem clinical diagnoses and postmortem autopsy findings concerning emergency medicine dispute cases and to figure out the most common major missed diagnoses. Clinical files and autopsy reports were retrospectively analysed and interpreted. Discrepancies between clinical diagnoses and autopsy diagnoses were evaluated using modified Goldman classification as major and minor discrepancy. The difference between diagnosis groups was compared with Pearson χ 2 test. Of the 117 cases included in this study, 71 of cases (58 class I and 13 class II diagnostic errors) were revealed as major discrepancies (60.7%). The most common major diagnoses were cardiovascular diseases (54 cases), followed by pulmonary diseases, infectious diseases and so on. The difference of major discrepancy between the diagnoses groups was significant (p<0.001). Aortic dissection and myocardial infarction were the most common cause of death (15 cases for each disease) and the most common missed class I diagnoses (80% and 66.7% for each), higher than the average 49.6% of all class I errors of the study patients. High major disparities between clinical diagnoses and postmortem examinations exist in emergency medical disputes cases; acute aortic dissection and myocardial infarction are the most frequently major missed diagnoses that ED clinicians should pay special attention to in practice. This study reaffirmed the necessity and usefulness of autopsy in auditing death in EDs. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

Analysis of patient data from laboratories during the Ebola virus disease outbreak in Liberia, April 2014 to March 2015

PubMed Central

Fallah, Mosoka; Oshitani, Hitoshi; Kituyi, Ling; Mahmoud, Nuha; Musa, Emmanuel; Gasasira, Alex; Nyenswah, Tolbert; Dahn, Bernice; Bawo, Luke

2017-01-01

An outbreak of Ebola virus disease (EVD) in Liberia began in March 2014 and ended in January 2016. Epidemiological information on the EVD cases was collected and managed nationally; however, collection and management of the data were challenging at the time because surveillance and reporting systems malfunctioned during the outbreak. EVD diagnostic laboratories, however, were able to register basic demographic and clinical information of patients more systematically. Here we present data on 16,370 laboratory samples that were tested between April 4, 2014 and March 29, 2015. A total of 10,536 traceable individuals were identified, of whom 3,897 were confirmed cases (positive for Ebola virus RNA). There were significant differences in sex, age, and place of residence between confirmed and suspected cases that tested negative for Ebola virus RNA. Age (young children and the elderly) and place of residence (rural areas) were the risk factors for death due to the disease. The case fatality rate of confirmed cases decreased from 80% to 63% during the study period. These findings may help support future investigations and lead to a fuller understanding of the outbreak in Liberia. PMID:28732038

Analysis of patient data from laboratories during the Ebola virus disease outbreak in Liberia, April 2014 to March 2015.

PubMed

Furuse, Yuki; Fallah, Mosoka; Oshitani, Hitoshi; Kituyi, Ling; Mahmoud, Nuha; Musa, Emmanuel; Gasasira, Alex; Nyenswah, Tolbert; Dahn, Bernice; Bawo, Luke

2017-07-01

An outbreak of Ebola virus disease (EVD) in Liberia began in March 2014 and ended in January 2016. Epidemiological information on the EVD cases was collected and managed nationally; however, collection and management of the data were challenging at the time because surveillance and reporting systems malfunctioned during the outbreak. EVD diagnostic laboratories, however, were able to register basic demographic and clinical information of patients more systematically. Here we present data on 16,370 laboratory samples that were tested between April 4, 2014 and March 29, 2015. A total of 10,536 traceable individuals were identified, of whom 3,897 were confirmed cases (positive for Ebola virus RNA). There were significant differences in sex, age, and place of residence between confirmed and suspected cases that tested negative for Ebola virus RNA. Age (young children and the elderly) and place of residence (rural areas) were the risk factors for death due to the disease. The case fatality rate of confirmed cases decreased from 80% to 63% during the study period. These findings may help support future investigations and lead to a fuller understanding of the outbreak in Liberia.

Retrospective study of 14 cases of canine arthritis secondary to Leishmania infection.

PubMed

Sbrana, S; Marchetti, V; Mancianti, F; Guidi, G; Bennett, D

2014-06-01

To describe the clinical appearance, laboratory findings and response to treatment of dogs with inflammatory joint disease associated with Leishmania infection. Retrospective analysis of case records of dogs with serologically confirmed leishmaniasis and concurrent inflammatory joint disease presented between 2005 and 2011. In total, 14 cases met the inclusion criteria. Of these, five (36%) dogs were presented with monoarthritis, five (36%) with oligoarthritis and four (28%) with polyarthritis. The most frequently affected joint was the carpus. Both erosive and non-erosive disease was identified on radiographic examination. All dogs had an inflammatory synovial fluid with a high white cell count and a preponderance of neutrophils, and in eight (57%) cases Leishmania amastigotes were found in the synovial fluid smears. Dogs were treated with 50 mg/kg N-methylglucamine antimoniate twice a day for 1 month and 10 mg/kg allopurinol twice a day for 6 to 9 months combined with prednisolone in five cases. At the 6-month follow-up, eight (57%) dogs showed improvement in general and orthopaedic signs and four (28%) dogs were stable. Leishmaniasis should be considered a differential diagnosis in dogs with inflammatory arthritis in endemic areas. © 2014 British Small Animal Veterinary Association.

Classical dengue hemorrhagic fever resulting from two dengue infections spaced 20 years or more apart: Havana, Dengue 3 epidemic, 2001-2002.

PubMed

González, Daniel; Castro, Osvaldo E; Kourí, Gustavo; Perez, Jorge; Martinez, Eric; Vazquez, Susana; Rosario, Delfina; Cancio, Reynel; Guzman, María G

2005-09-01

To report the clinical, laboratory and sonographic findings in 76 adult cases of dengue hemorrhagic fever (DHF). A dengue 3 epidemic occurred in Havana City from June 2001 to March 2002. 12,889 cases were reported, with 81 DHF cases. From this, 76 serologically confirmed cases were studied descriptively. Bronchial asthma and white race were important risk factors for the severe form of the disease. Fever (100%), headache (92.1%), myalgia (76.3%), arthralgia (73.7%) and retro-orbital pain (57.7%) were the most frequent general symptoms. Vomiting and abdominal pain were observed in 59.2% and 48.6% of cases, respectively. The most common bleeding site was the vagina (64%), followed by the skin (55.2%). Eighteen patients (23.6%) had shock syndrome. Laboratory findings included thrombocytopenia (100%), hemoconcentration (93.4%), an increase in liver enzymes (82.8%), and leukopenia (71%). Ultrasound detected thickening of the gallbladder wall in 35.1%, pleural effusion in 20.3%, and splenomegaly in 12.9% of cases. These findings contribute to a better understanding of the clinical aspects of DHF in adult patients due to the dengue 3 virus.

[Liver involvement in coeliac disease].

PubMed

Riestra, S; Fernández, E; Rodrigo, L

1999-12-01

Coeliac disease is a gluten-sensitive enteropathy in which, genetic, immunologic and environmental factors are implied. Several extradigestive diseases have been described in association with coeliac disease, which share most of the times an immunologic mechanism. The liver is damaged in coeliac disease, and it has been considered by some authors as an extraintestinal manifestation of the disease. In the present revision we discuss the different hepatic diseases related with the coeliac disease, as well as the best approach to diagnosis and therapy of choice. At diagnosis, it is very frequent to find an asymptomatic hipertransaminasemia, which frequently disappears after gluten suppression; the morphological substratum found in this alteration is a non-specific reactive hepatitis in the majority of cases. Coeliac disease is a demonstrated cause of cryptogenic hipertransaminasemia. In a small percentage of patient with coeliac disease an association has been found with other immunological liver diseases, such as primary biliary cirrhosis, primary sclerosing cholangitis and autoimmune hepatitis. Few studies exist that include a large number of patient, and the results on occasions are discordant. Nevertheless, the strongest association is with autoimmune hepatitis and with primary biliary cirrhosis. Several communications of isolated cases of rare hepatic diseases, which probably, only reflect a fortuitous association, have been cited in the literature.

ROHHAD in a 9-year-old boy — clinical case.

PubMed

Kot, Karolina; Moszczyńska, Elżbieta; Lecka-Ambroziak, Agnieszka; Migdał, Marek; Szalecki, Mieczysław

2016-01-01

ROHHAD syndrome (Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation) is characterized by rapid-onset obesity in young children, hypoventilation, and hypothalamic and autonomic dysfunction. The exact aetiology of the disease remains unknown, and the number of reported cases seems to be underestimated. We present the case of a nine-year-old male patient suspected of ROHHAD due to weight gain since early childhood, decreased height velocity, hypoventilation, hypodipsia, excessive perspiration, and pyrexial episodes. The presented symptoms, and laboratory and imaging findings met the criteria of ROHHAD syndrome. ROHHAD should be considered in differential diagnosis for obesity in children. Early identification of the disease prevents potential complications specific for the syndrome, in particular a life-threatening cardio-pulmonary arrest. Patients with ROHHAD require regular follow-up by a multidisciplinary team.

Case of coccidioidomycosis in Ireland.

PubMed

Duggan, Patrick Thomas; Deegan, Alexander P; McDonnell, Timothy J

2016-08-11

Coccidioidal infection is a well-recognised cause of pulmonary disease in certain parts of the south-western USA, Central and South America; however, it is rarely encountered elsewhere in the world. We describe the case of a previously healthy man presenting to a Dublin hospital with fever, dry cough and chest pain, following a visit to the western USA. Despite treatment with broad-spectrum antimicrobials, the patient developed progressive bilateral pulmonary infiltrates and a large pleural effusion. After extensive investigations including CT, bronchoscopy and pleural fluid analysis, a diagnosis of pulmonary coccidioidomycosis was made. Following the initiation of appropriate antifungal therapy, the patient made a full recovery. This case was of interest due to the rarity of the disease outside its areas of endemicity and the unusual findings associated with its diagnosis. 2016 BMJ Publishing Group Ltd.

[Possibilities of genetic diagnostics of intestine tumour and inflammatory diseases in Slovakia].

PubMed

Desatová, B; Bátovský, M; Mľkva, I

2013-11-01

In recent years, gastroenterologists focused their interest on finding the genetic background of inflammatory bowel disease and colon cancer. NOD2/ CARD15 gene is still the most investigated gene of all known genes and its mutations can explain approximately 20% of genetic predisposition to Crohns disease. From later identified genes that play an important role in the etiology of Crohns disease, the IL23R and ATG16L1 genes have a perspective place. In the case of hereditary colorectal cancer, we can select by the help of genetic diagnostics, the group of patients with high risk of colon cancer, which requires more intensive monitoring. The aim is to find out the colon cancer in the early, treatable stage. In practical terms, genetic diagnostics of inflammatory bowel disease and colon cancer has no screening and only poor prognostic importance. It is pleasant, that the Slovak genetic workplaces are interested in this issue and in accordance with modern trends they try to expand its diapason.

Genes and Mutations Causing Autosomal Dominant Retinitis Pigmentosa

PubMed Central

Daiger, Stephen P.; Bowne, Sara J.; Sullivan, Lori S.

2015-01-01

Retinitis pigmentosa (RP) has a prevalence of approximately one in 4000; 25%–30% of these cases are autosomal dominant retinitis pigmentosa (adRP). Like other forms of inherited retinal disease, adRP is exceptionally heterogeneous. Mutations in more than 25 genes are known to cause adRP, more than 1000 mutations have been reported in these genes, clinical findings are highly variable, and there is considerable overlap with other types of inherited disease. Currently, it is possible to detect disease-causing mutations in 50%–75% of adRP families in select populations. Genetic diagnosis of adRP has advantages over other forms of RP because segregation of disease in families is a useful tool for identifying and confirming potentially pathogenic variants, but there are disadvantages too. In addition to identifying the cause of disease in the remaining 25% of adRP families, a central challenge is reconciling clinical diagnosis, family history, and molecular findings in patients and families. PMID:25304133

Topography as a contextual variable in infectious disease transmission.

PubMed

Montoya, Isaac D

2004-01-01

This paper examines whether or not topography is a contextual variable that indirectly influences the transmission of infectious diseases. Age, gender, race/ethnicity, education level, economic status, injection drug use, and high-risk sexual behavior are known to influence infectious diseases transmission, but the effects of topography are often overlooked. A sample of 395 drug users were chosen from census tracts based upon a target profile of drug use behavior and demographics for the city of Houston. HIV was chosen as the infectious disease used to test this hypothesis. Residents of 16 census tracts in Houston, Texas participated in this study. The findings revealed that census tracts that were 'isolated' by topographic barriers, such as bayous, parks, railroad tracks, railway yards, major thoroughfares, freeways, and unique street grids had fewer cases of HIV than census tracks that were more accessible to thru-traffic. The research findings suggest that future research studies should consider topography as being contextually related to infectious disease transmission.

Proximal muscle weakness as a result of osteomalacia associated with celiac disease: a case report.

PubMed

Oz, B; Akan, O; Kocyigit, H; Gürgan, H A

2016-02-01

A 24-year-old woman suffering from back and hip pain with difficulty in walking was reported. She had proximal muscle weakness. Laboratory findings led to the diagnosis of osteomalacia. Positivity of antibodies strengthened suspicion of celiac disease. In patients with proximal muscle weakness, osteomalacia should be considered in differential diagnosis even in a young woman. A 24-year-old woman suffering from back pain, bilateral hip pain, and difficulty in walking was reported. Her symptoms had started in the first trimester of pregnancy. In her physical examination, proximal muscle weakness and waddling gait pattern were determined. Her lumbar spine and hip MRI revealed no obvious pathological findings. Electromyography showed a myophatic pattern. Physical examination, normal values of creatine kinase, and muscle biopsy were supplied to exclude the diagnosis of primer muscle diseases. Laboratory findings led to the diagnosis of osteomalacia with normal renal function. Gastrointestinal symptoms and positivity of anti-gliadin and anti-endomysium antibodies strengthened the suspicion of celiac disease as a cause of the osteomalacia. The diagnosis of celiac disease was confirmed with duodenal mucosal biopsy. In patients with proximal muscle weakness and waddling gait pattern, osteomalacia should be considered in differential diagnosis even in a young woman and underlying disease should be investigated.

Perianesthetic Mortality in Domestic Animals: A Retrospective Study of Postmortem Lesions and Review of Autopsy Procedures.

PubMed

DeLay, J

2016-09-01

Autopsy of animals that die in the perianesthetic period allows identification of anesthetic and surgical complications as well as preexisting disease conditions that may have contributed to mortality. In most studies to date investigating perianesthetic mortality in animals, inclusion of autopsy data is very limited. This retrospective study evaluated autopsy findings in 221 cases of perianesthetic death submitted to a veterinary diagnostic laboratory from primary care and referral hospitals. Canine (n = 105; 48%) and feline (n = 90; 41%) cases predominated in the study, involving elective (71%) and emergency (19%) procedures. The clinical history provided to the pathologist was considered incomplete in 42 of 221 cases (19%), but this history was considered essential for evaluating the circumstances of perianesthetic death. Disease had been recognized clinically in 69 of 221 animals (31%). Death occurred in the premedication or sedation (n = 19; 9%), induction (n = 22; 11%), or maintenance (n = 73; 35%) phases or in the 24 hours postanesthesia (n = 93 animals; 45%). Lesions indicative of significant natural disease were present in 130 of 221 animals (59%), mainly involving the heart, upper respiratory tract, or lungs. Surgical or anesthesia-associated complications were identified in 10 of 221 cases (5%). No lesions were evident in 80 of 221 animals (36%), the majority of which were young, healthy, and undergoing elective surgical procedures. Lesions resulting from cardiopulmonary resuscitation were identified in 75 of 221 animals (34%). Investigation of perianesthetic death cases should be done with knowledge of prior clinical findings and antemortem surgical and medical procedures; the autopsy should particularly focus on the cardiovascular and respiratory system, including techniques to identify pneumothorax and venous air embolism. © The Author(s) 2016.

Ferritin levels predict severe dengue.

PubMed

Soundravally, R; Agieshkumar, B; Daisy, M; Sherin, J; Cleetus, C C

2015-02-01

Currently, no tests are available to monitor and predict severity and outcome of dengue. To find potential markers that predict dengue severity, the present study validated the serum level of three acute-phase proteins α-1 antitrypsin, ceruloplasmin and ferritin in a pool of severe dengue cases compared to non-severe forms and other febrile illness controls. A total of 96 patients were divided into two equal groups with group 'A' comprising dengue-infected cases and group 'B' with other febrile illness cases negative for dengue. Out of 48 dengue-infected cases, 13 had severe dengue and the remaining 35 were classified as non-severe dengue. Immunoassays were performed to evaluate the serum levels of acute-phase proteins both on the day of admission and on the day of defervescence. The efficiency of individual proteins in predicting the disease severity was assessed using receiver operating characteristic curve. The study did not find any significant difference in the levels of α-1 antitrypsin between the clinical groups. A significant increase in the levels of ceruloplasmin around defervescence in severe cases compared to non-severe and other febrile controls was observed and this is the first report describing the potential association of ceruloplasmin and dengue severity. Interestingly, a steady increase in the level of serum ferritin was recorded throughout the course of illness. Among all the three proteins, the elevated ferritin level could predict the disease severity with highest sensitivity and specificity of 76.9 and 83.3 %, respectively, on the day of admission and the same was found to be 90 and 91.6 % around defervescence. On the basis of this diagnostic efficiency, we propose that ferritin may serve as a potential biomarker for an early prediction of disease severity.

Cardiac findings in Noonan syndrome on long-term follow-up.

PubMed

Colquitt, John L; Noonan, Jacqueline A

2014-01-01

Noonan syndrome (NS) is the second most common genetic syndrome associated with cardiac abnormalities, including, most notably, pulmonary stenosis (PS) and hypertrophic cardiomyopathy (HCM). Little is known about the natural history of heart disease in this unique subset of patients. We sought to contribute information on the natural history of NS by looking at how the cardiac disease progresses with time. This is a retrospective review of the medical records of patients with NS seen at our institution between 1963 and 2011. Records were available for 113 patients. Average length of follow-up was 14.16 years (2 months to 44 years, median 12.5 years). Sixty-six percent (75/113) of our patients had PS; within this subset, 57% (43) were classified as mild, 9% (7) moderate, and 33% (25) severe. None of the cases of mild PS worsened with time. All of the severe cases had an intervention, as did some moderate cases. Fourteen percent (16/113) of our patients had HCM; 56% (9/16) were mild, diagnosed at an average age of 3.8 years. Seven of these were stable with time, while one did progress. Forty-four percent (7/16) of cases were classified as severe, diagnosed at an average age of 4.2 months, and all were managed medically, surgically, or both. Our cohort had seven deaths (ages 6 months and 6, 10, 20, 40, 49, and 50 years). Mild PS in patients with NS is nonprogressive. Severe, and in some cases moderate, PS will invariably require a therapeutic intervention. It is uncommon for HCM to progress or have new onset beyond early childhood. Prognosis of heart disease in NS is influenced most by the findings on presentation. © 2013 Wiley Periodicals, Inc.

Dietary Patterns and Risk of Gallbladder Disease: A Hospital-based Case-Control Study in Adult Women

PubMed Central

Jessri, Mahsa

2015-01-01

ABSTRACT Gallbladder disease is one of the most prevalent gastrointestinal disorders that may result from a complex interaction of genetic and environmental factors. This study examined the association of dietary patterns with gallstone disease among Iranian women. This case-control study was conducted in general teaching hospitals in Tehran, Iran. Participants were 101 female cases and 204 female controls aged 40-65 years who were admitted for problems other than GBD. Dietary patterns were identified using principal components analysis based on food frequency questionnaire. Compared to the control group, cases were less educated, less physically active, and consumed more total energy (p<0.02). Having ≥3 livebirths increased the risk of gallstone by more than 5 times, followed by having rapid weight loss, being single, having familial history of gallstone, and consuming high total energy. Two distinct dietary patterns were identified in women (healthy and unhealthy). After adjustment for several confounding variables, healthy dietary pattern was associated with a decreased risk of gallstone disease (OR=0.14, 95% CI 0.048-0.4) while unhealthy dietary pattern was associated with an increased risk (OR=3.77, 95% CI 1.52-9.36). These findings confirm that dietary pattern approach provides potentially useful and relevant information on the relationship between diet and disease. Identifying risk factors will provide an opportunity for prevention of gallbladder disease in developing countries facing an increased risk of obesity. PMID:25995720

Clinical Performance of Aspergillus PCR for Testing Serum and Plasma: a Study by the European Aspergillus PCR Initiative.

PubMed

White, P Lewis; Barnes, Rosemary A; Springer, Jan; Klingspor, Lena; Cuenca-Estrella, Manuel; Morton, C Oliver; Lagrou, Katrien; Bretagne, Stéphane; Melchers, Willem J G; Mengoli, Carlo; Donnelly, J Peter; Heinz, Werner J; Loeffler, Juergen

2015-09-01

Aspergillus PCR testing of serum provides technical simplicity but with potentially reduced sensitivity compared to whole-blood testing. With diseases for which screening to exclude disease represents an optimal strategy, sensitivity is paramount. The associated analytical study confirmed that DNA concentrations were greater in plasma than those in serum. The aim of the current investigation was to confirm analytical findings by comparing the performance of Aspergillus PCR testing of plasma and serum in the clinical setting. Standardized Aspergillus PCR was performed on plasma and serum samples concurrently obtained from hematology patients in a multicenter retrospective anonymous case-control study, with cases diagnosed according to European Organization for Research and Treatment of Cancer/Invasive Fungal Infections Cooperative Group and the National Institute of Allergy and Infectious Diseases Mycoses Study Group (EORTC/MSG) consensus definitions (19 proven/probable cases and 42 controls). Clinical performance and clinical utility (time to positivity) were calculated for both kinds of samples. The sensitivity and specificity for Aspergillus PCR when testing serum were 68.4% and 76.2%, respectively, and for plasma, they were 94.7% and 83.3%, respectively. Eighty-five percent of serum and plasma PCR results were concordant. On average, plasma PCR was positive 16.8 days before diagnosis and was the earliest indicator of infection in 13 cases, combined with other biomarkers in five cases. On average, serum PCR was positive 10.8 days before diagnosis and was the earliest indicator of infection in six cases, combined with other biomarkers in three cases. These results confirm the analytical finding that the sensitivity of Aspergillus PCR using plasma is superior to that using serum. PCR positivity occurs earlier when testing plasma and provides sufficient sensitivity for the screening of invasive aspergillosis while maintaining methodological simplicity. Copyright © 2015 White et al.

Waiting list randomized controlled trial within a case-finding design: methodological considerations.

PubMed

Ronaldson, Sarah; Adamson, Joy; Dyson, Lisa; Torgerson, David

2014-10-01

Randomized controlled trials (RCTs) are widely used in health care research to provide high-quality evidence of effectiveness of an intervention. However, sometimes a study does not require an RCT in order to answer its primary objective; a case-finding design may be more appropriate. The aim of this paper was to introduce a new study design that nests a waiting list RCT within a case-finding study. An example of the new study design is the DOC Study, which primarily aims to determine the diagnostic accuracy of lung function tests for chronic obstructive pulmonary disease. It also investigates the impact of lung function tests on smoking behaviour through use of a waiting list design. The first step of the study design is to obtain participants' consent. Individuals are then randomized to one of two groups; either the 'intervention now' group or the 'intervention later' group, that is, participants are placed on a waiting list. All participants receive the same intervention; the only difference between the groups is the timing of the intervention. The design addresses patient preference issues and recruitment issues that can arise in other trial designs. Potential limitations include differential attrition between study groups and potential demoralization for the 'intervention later' group. The 'waiting list case-finding trial' design is a valuable method that could be applied to case-finding studies; the design enables the case-finding component of a study to be maintained while simultaneously exploring additional hypotheses through conducting a trial. © 2014 John Wiley & Sons, Ltd.

Loxoprofen-induced interstitial pneumonia: a case report.

PubMed

Kato, Motoyasu; Sasaki, Shinichi; Sekimoto, Yasuhito; Arano, Naoko; Jo, Hitomi; Suina, Kentaro; Kuriyama, Sachiko; Muraki, Keiko; Nagashima, Osamu; Yoshioka, Yasuko; Tominaga, Shigeru; Takahashi, Kazuhisa

2016-05-25

Loxoprofen is a nonsteroidal anti-inflammatory drug used in the treatment of many diseases. However, there are no case reports about loxoprofen-induced pneumonia. We have encountered a rare case of loxoprofen-induced pneumonia. We report the case of a 71-year-old Japanese woman who was initially treated with loxoprofen for fever. She was admitted to our hospital because of worsening of her symptoms, including fever and dyspnea. Her symptoms improved after treatment with ceftriaxone. Seven days after admission, she again developed high fever. She was again treated with loxoprofen and levofloxacin. However, acute respiratory failure developed after initiation of loxoprofen treatment. Chest computed tomography showed peribronchovascular consolidation. She was diagnosed with loxoprofen-induced pneumonia for which she was administered steroids. After treatment, her dyspnea and radiological findings improved. The findings in this case report reveal an association between treatment with a nonsteroidal anti-inflammatory drug and pneumonia. This rare case was diagnosed after accidental retreatment with loxoprofen. This is the first report of loxoprofen-induced pneumonia.

Finding patients using similarity measures in a rare diseases-oriented clinical data warehouse: Dr. Warehouse and the needle in the needle stack.

PubMed

Garcelon, Nicolas; Neuraz, Antoine; Benoit, Vincent; Salomon, Rémi; Kracker, Sven; Suarez, Felipe; Bahi-Buisson, Nadia; Hadj-Rabia, Smail; Fischer, Alain; Munnich, Arnold; Burgun, Anita

2017-09-01

In the context of rare diseases, it may be helpful to detect patients with similar medical histories, diagnoses and outcomes from a large number of cases with automated methods. To reduce the time to find new cases, we developed a method to find similar patients given an index case leveraging data from the electronic health records. We used the clinical data warehouse of a children academic hospital in Paris, France (Necker-Enfants Malades), containing about 400,000 patients. Our model was based on a vector space model (VSM) to compute the similarity distance between an index patient and all the patients of the data warehouse. The dimensions of the VSM were built upon Unified Medical Language System concepts extracted from clinical narratives stored in the clinical data warehouse. The VSM was enhanced using three parameters: a pertinence score (TF-IDF of the concepts), the polarity of the concept (negated/not negated) and the minimum number of concepts in common. We evaluated this model by displaying the most similar patients for five different rare diseases: Lowe Syndrome (LOWE), Dystrophic Epidermolysis Bullosa (DEB), Activated PI3K delta Syndrome (APDS), Rett Syndrome (RETT) and Dowling Meara (EBS-DM), from the clinical data warehouse representing 18, 103, 21, 84 and 7 patients respectively. The percentages of index patients returning at least one true positive similar patient in the Top30 similar patients were 94% for LOWE, 97% for DEB, 86% for APDS, 71% for EBS-DM and 99% for RETT. The mean number of patients with the exact same genetic diseases among the 30 returned patients was 51%. This tool offers new perspectives in a translational context to identify patients for genetic research. Moreover, when new molecular bases are discovered, our strategy will help to identify additional eligible patients for genetic screening. Copyright © 2017. Published by Elsevier Inc.

Detergent protease exposure and respiratory disease: case-referent analysis of a retrospective cohort.

PubMed

Brant, A; Upchurch, S; van Tongeren, M; Zekveld, C; Helm, J; Barnes, F; Newman Taylor, A J; Cullinan, P

2009-11-01

To examine the relationship between protease exposure and respiratory disease in a cohort of detergent enzyme manufacturers. Case-referent analysis of a cohort of employees working in a European detergent factory between 1989 and 2002. Cases with new lower or upper respiratory disease were ascertained by examination of occupational health records and matched to referents on date of first employment. Personal exposures to airborne detergent protease were estimated, using a job exposure matrix, from >12,000 measurements taken in the factory during the period of study. We found clear, monotonic relationships between estimated protease exposure and both lower and upper respiratory disease. After control for age, sex and smoking, the odds ratio of lower respiratory disease was significantly elevated (1.98, 95% CI 1.04 to 3.79) in those employees working in jobs in the highest quartile of protease exposure (geometric mean 7.9 ng x m(-3)). For employees with upper respiratory disease, the risk was significantly elevated at a lower level of estimated protease exposure (geometric mean 2.3 ng x m(-3)). These findings provide strong evidence of an association between detergent enzyme exposure and the development of respiratory disease in an occupational setting. Using the routinely collected information on specific sensitisation and the close attention to workplace exposures that are characteristic of this industry, it should be possible to derive meaningful occupational exposure standards for most detergent enzymes.

Antimalarial drugs for rheumatoid disease during pregnancy.

PubMed Central

Koren, G.

1999-01-01

QUESTION: One of my patients, who has rheumatoid arthritis, has just found out she is pregnant. She is being treated with hydroxychloroquine. I could not find anything about the safety of this drug during pregnancy. ANSWER: Most of the literature on this drug relates to prophylaxis for malaria. Much lower doses than those used for rheumatic diseases are given with no adverse fetal effects. Several studies on use of the drug for rheumatic diseases during pregnancy also failed to show adverse fetal effects, although, in most cases, only first-trimester exposure was reported. PMID:10626050

Adult onset Niemann-Pick type C disease: A clinical, neuroimaging and molecular genetic study.

PubMed

Battisti, Carla; Tarugi, Patrizla; Dotti, Maria Teresa; De Stefano, Nicola; Vattimo, Angelo; Chierichetti, Francesea; Calandra, Sebastiano; Federico, Antonio

2003-11-01

We report on a patient with adult-onset Niemann-Pick type C (NPC) disease, carrying the mutations P1007 and I1061T in the NPC1 gene, presenting with marked psychiatric changes followed by dystonia and cognitive impairment. Filipin staining, single photon emission computed tomography perfusional, positron emission tomography metabolic, conventional magnetic resonance imaging, and magnetic resonance spectroscopy findings suggested a pathophysiological correlation with phenotype expression. This case expands the clinical and genetic spectrum of the rare adult-onset NPC disease phenotype.