Browsing by Subject "Diagnosis, Differential"
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Item Open Access A 17-Year-Old Girl With Unilateral Headache and Double Vision.(Journal of investigative medicine high impact case reports, 2019-01) Rodriguez-Homs, Larissa G; Goerlitz-Jessen, Mark; Das, Samrat UTolosa-Hunt syndrome is characterized by a painful ophthalmoplegia secondary to a granulomatous inflammation in or adjacent to the cavernous sinus. Magnetic resonance imaging will show enhancement of the cavernous sinus and/or the orbital apex. Although this syndrome is extremely rare in children, it should be a diagnostic consideration in patients presenting with painful ophthalmoplegia with variable involvement of cranial nerves II to VI. The differential diagnosis for unilateral cavernous sinus lesion is broad, including vascular lesions (cavernous sinus thrombosis), inflammatory processes (sarcoidosis, autoimmune), neoplastic processes (schwannoma, lymphoma), as well as infectious etiologies. We describe a pediatric patient presenting with neurological symptoms from a unilateral cavernous sinus magnetic resonance imaging abnormality and the thorough diagnostic approach to arrive at the diagnosis of Tolosa-Hunt syndrome.Item Open Access AIDS‐associated Cryptococcus neoformans and Penicillium marneffei coinfection: a therapeutic dilemma in resource‐limited settings.(Clin Infect Dis, 2010-11-01) Le, Thuy; Hong Chau, Tran Thi; Kim Cuc, Ngo Thi; Si Lam, Pham; Manh Sieu, Tran Phu; Shikuma, Cecilia M; Day, Jeremy NAIDS‐associated Cryptococcus neoformans and Penicillium marneffei coinfection has not been adequately studied and poses unique therapeutic challenges in resource‐limited settings. Itraconazole poorly penetrates the central nervous system, whereas fluconazole has poor activity against P. marneffei. We prospectively report management of 1 patient and retrospectively review 7 coinfection cases from Vietnam.Item Open Access Aorta-to-pulmonary vein fistula in an asymptomatic 25-year-old man.(Circulation, 2013-04-23) Dahiya, Arun; Collier, Patrick; Krasuski, Richard; Kalahasti, Vidyasagar; Del Nido, Pedro; Stewart, William JItem Open Access ASFA Category IV becomes Category I: Idiopathic thrombotic thrombocytopenic purpura in a patient with presumed gemcitabine-induced thrombotic microangiopathy.(Journal of clinical apheresis, 2018-06) Bittar, Peter G; Nickolich, Myles S; Onwuemene, Oluwatoyosi AIn the implementation of American Society for Apheresis national guidelines, the decision for therapeutic plasma exchange may be confounded by a clinical presentation that fits both a Category I and IV designation. We report the case of a 45-year-old female who presented with concern for a Category IV disorder, gemcitabine-induced thrombotic microangiopathy, and was ultimately diagnosed with a Category I disorder, idiopathic thrombotic thrombocytopenic purpura. This case highlights the importance of ruling out idiopathic TTP by a thorough evaluation for ADAMTS13 activity and inhibitor, even when an alternate thrombotic microangiopathy diagnosis may be likely.Item Open Access Biomarkers to help guide management of patients with pulmonary nodules.(Am J Respir Crit Care Med, 2013-08-15) Patz, Edward F; Campa, Michael J; Gottlin, Elizabeth B; Trotter, Priscilla R; Herndon, James E; Kafader, Don; Grant, Russell P; Eisenberg, MarciaRATIONALE: Indeterminate pulmonary nodules are a common radiographic finding and require further evaluation because of the concern for lung cancer. OBJECTIVES: We developed an algorithm to assign patients to a low- or high-risk category for lung cancer, based on a combination of serum biomarker levels and nodule size. METHODS: For the serum biomarker assay, we determined levels of carcinoembryonic antigen, α1-antitrypsin, and squamous cell carcinoma antigen. Serum data and nodule size from a training set of 509 patients with (n = 298) and without (n = 211) lung cancer were subjected to classification and regression tree and logistic regression analyses. Multiple models were developed and tested in an independent, masked validation set for their ability to categorize patients with (n = 203) or without (n = 196) lung cancer as being low- or high-risk for lung cancer. MEASUREMENTS AND MAIN RESULTS: In all models, a large percentage of individuals in the validation study with small nodules (<1 cm) were assigned to the low-risk group, and a large percentage of individuals with large nodules (≥3 cm) were assigned to the high-risk group. In the validation study, the classification and regression tree algorithm had overall sensitivity, specificity, and positive and negative predictive values for determining lung cancer of 88%, 82%, 84%, and 87%, respectively. The logistic regression model had overall sensitivity, specificity, and positive and negative predictive values of 80%, 89%, 89%, and 81%, respectively. CONCLUSION: Integration of biomarkers with lung nodule size has the potential to help guide the management of patients with indeterminate pulmonary nodules.Item Open Access Case 4: Weakness and Headaches in a 14-year-old Boy.(Pediatrics in review, 2018-08) White, Alyssa; Liu, Xibei; Das, Samrat UItem Open Access Chronic Lyme disease: the controversies and the science.(Expert Rev Anti Infect Ther, 2011-07) Lantos, Paul MThe diagnosis of chronic Lyme disease has been embroiled in controversy for many years. This is exacerbated by the lack of a clinical or microbiologic definition, and the commonality of chronic symptoms in the general population. An accumulating body of evidence suggests that Lyme disease is the appropriate diagnosis for only a minority of patients in whom it is suspected. In prospective studies of Lyme disease, very few patients go on to have a chronic syndrome dominated by subjective complaints. There is no systematic evidence that Borrelia burgdorferi, the etiology of Lyme disease, can be identified in patients with chronic symptoms following treated Lyme disease. Multiple prospective trials have revealed that prolonged courses of antibiotics neither prevent nor alleviate such post-Lyme syndromes. Extended courses of intravenous antibiotics have resulted in severe adverse events, which in light of their lack of efficacy, make them contraindicated.Item Open Access COVID-19-associated brief psychotic disorder.(BMJ case reports, 2020-08-11) Smith, Colin M; Komisar, Jonathan R; Mourad, Ahmad; Kincaid, Brian RA 36-year-old previously healthy woman with no personal or family history of mental illness presented with new-onset psychosis after a diagnosis of symptomatic COVID-19. Her psychotic symptoms initially improved with antipsychotics and benzodiazepines and further improved with resolution of COVID-19 symptoms. This is the first case of COVID-19-associated psychosis in a patient with no personal or family history of a severe mood or psychotic disorder presenting with symptomatic COVID-19, highlighting the need for vigilant monitoring of neuropsychiatric symptoms in these individuals.Item Open Access Cystic Mediastinal Thymic Lymphangioma Mimicking Echinococcal Cyst.(Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer, 2015-10) Jenks, Jeffrey D; Katsivas, Theodoros FItem Open Access Endometriosis of the liver containing mullerian adenosarcoma: case report.(Am J Obstet Gynecol, 2004-11) Jelovsek, John E; Winans, Charles; Brainard, Jennifer; Falcone, TommasoWe present a case of a liver endometrioma in a postmenopausal woman. After failed management with leuprolide acetate, the mass was resected and contained focal areas of mullerian adenosarcoma. This is a rare case of mullerian adenosarcoma that appeared to arise within an endometrioma of the liver.Item Open Access Evaluation of in-hospital management for febrile illness in Northern Tanzania before and after 2010 World Health Organization Guidelines for the treatment of malaria.(PLoS One, 2014) Moon, Andrew M; Biggs, Holly M; Rubach, Matthew P; Crump, John A; Maro, Venace P; Saganda, Wilbrod; Reddy, Elizabeth AOBJECTIVE: In 2010, the World Health Organization (WHO) published updated guidelines emphasizing and expanding recommendations for a parasitological confirmation of malaria before treating with antimalarials. This study aimed to assess differences in historic (2007-2008) (cohort 1) and recent (2011-2012) (cohort 2) hospital cohorts in the diagnosis and treatment of febrile illness in a low malaria prevalence area of northern Tanzania. MATERIALS AND METHODS: We analyzed data from two prospective cohort studies that enrolled febrile adolescents and adults aged ≥13 years. All patients received quality-controlled aerobic blood cultures and malaria smears. We compared patients' discharge diagnoses, treatments, and outcomes to assess changes in the treatment of malaria and bacterial infections. RESULTS: In total, 595 febrile inpatients were enrolled from two referral hospitals in Moshi, Tanzania. Laboratory-confirmed malaria was detected in 13 (3.2%) of 402 patients in cohort 1 and 1 (0.5%) of 193 patients in cohort 2 (p = 0.041). Antimalarials were prescribed to 201 (51.7%) of 389 smear-negative patients in cohort 1 and 97 (50.5%) of 192 smear-negative patients in cohort 2 (p = 0.794). Bacteremia was diagnosed from standard blood culture in 58 (14.5%) of 401 patients in cohort 1 compared to 18 (9.5%) of 190 patients in cohort 2 (p = 0.091). In cohort 1, 40 (69.0%) of 58 patients with a positive blood culture received antibacterials compared to 16 (88.9%) of 18 patients in cohort 2 (p = 0.094). In cohort 1, 43 (10.8%) of the 399 patients with known outcomes died during hospitalization compared with 12 (6.2%) deaths among 193 patients in cohort 2 (p = 0.073). DISCUSSION: In a setting of low malaria transmission, a high proportion of smear-negative patients were diagnosed with malaria and treated with antimalarials despite updated WHO guidelines on malaria treatment. Improved laboratory diagnostics for non-malaria febrile illness might help to curb this practice.Item Open Access Histoplasmosis among hospitalized febrile patients in northern Tanzania.(Trans R Soc Trop Med Hyg, 2012-08) Lofgren, Sarah M; Kirsch, Emily J; Maro, Venance P; Morrissey, Anne B; Msuya, Levina J; Kinabo, Grace D; Saganda, Wilbrod; Diefenthal, Helmut C; Ramadhani, Habib O; Wheat, L Joseph; Crump, John AHistoplasmosis may be common in East Africa but the diagnosis is rarely confirmed. We report 9 (0.9%) cases of probable histoplasmosis retrospectively identified among 970 febrile inpatients studied in northern Tanzania. Median (range) age was 31 (6, 44) years, 6 (67%) were female, 6 (67%) HIV-infected; 7 (78%) were clinically diagnosed with tuberculosis or bacterial pneumonia. Histoplasmosis is an important cause of febrile illness in Tanzania but is rarely considered in the differential diagnosis. Increased clinician awareness and availability of reliable diagnostic tests may improve patient outcomes.Item Open Access Index of suspicion. Case 1: Lymphadenopathy, prolonged hematuria, proteinuria, and weight loss in a teenage boy. Case 2: Red, Swollen, painful eye in a 12-year-old boy with methylmalonic acidemia. Case 3: Ptosis and diplopia after a respiratory infection in a 7-year-old girl.(Pediatrics in review, 2012-02) Ananthanarayanan, Sowmya; Gereige, Rani; Al-Owain, Mohammed; Nguyen, Lisa; Kansagra, Sujay; Shaw, Andrea; McLean, HeatherItem Open Access Isolated urethral injury after coitus-related penile trauma.(The Journal of trauma, 2010-04) Patel, Ashit; Kotkin, LeonidItem Open Access Lyme disease: authentic imitator or wishful imitation?(JAMA Neurol, 2014-10) Melia, Michael T; Lantos, Paul M; Auwaerter, Paul GItem Open Access Myasthenia gravis.(Orphanet J Rare Dis, 2007-11-06) Juel, Vern C; Massey, Janice MMyasthenia gravis (MG) is a rare, autoimmune neuromuscular junction disorder. Contemporary prevalence rates approach 1/5,000. MG presents with painless, fluctuating, fatigable weakness involving specific muscle groups. Ocular weakness with asymmetric ptosis and binocular diplopia is the most typical initial presentation, while early or isolated oropharyngeal or limb weakness is less common. The course is variable, and most patients with initial ocular weakness develop bulbar or limb weakness within three years of initial symptom onset. MG results from antibody-mediated, T cell-dependent immunologic attack on the endplate region of the postsynaptic membrane. In patients with fatigable muscle weakness, the diagnosis of MG is supported by: 1. pharmacologic testing with edrophonium chloride that elicits unequivocal improvement in strength; 2. electrophysiologic testing with repetitive nerve stimulation (RNS) studies and/or single-fiber electromyography (SFEMG) that demonstrates a primary postsynaptic neuromuscular junctional disorder; and 3. serologic demonstration of acetylcholine receptor (AChR) or muscle-specific tyrosine kinase (MuSK) antibodies. Differential diagnosis includes congenital myasthenic syndromes, Lambert Eaton syndrome, botulism, organophosphate intoxication, mitochondrial disorders involving progressive external ophthalmoplegia, acute inflammatory demyelinating polyradiculoneuropathy (AIDP), motor neuron disease, and brainstem ischemia. Treatment must be individualized, and may include symptomatic treatment with cholinesterase inhibitors and immune modulation with corticosteroids, azathioprine, cyclosporine, and mycophenolate mofetil. Rapid, temporary improvement may be achieved for myasthenic crises and exacerbations with plasma exchange (PEX) or intravenous immunoglobulin (IVIg). Owing to improved diagnostic testing, immunotherapy, and intensive care, the contemporary prognosis is favorable with less than five percent mortality and nearly normal life expectancy.Item Open Access Phosphoproteomic profiling of human myocardial tissues distinguishes ischemic from non-ischemic end stage heart failure.(PLoS One, 2014) Schechter, Matthew A; Hsieh, Michael KH; Njoroge, Linda W; Thompson, J Will; Soderblom, Erik J; Feger, Bryan J; Troupes, Constantine D; Hershberger, Kathleen A; Ilkayeva, Olga R; Nagel, Whitney L; Landinez, Gina P; Shah, Kishan M; Burns, Virginia A; Santacruz, Lucia; Hirschey, Matthew D; Foster, Matthew W; Milano, Carmelo A; Moseley, M Arthur; Piacentino, Valentino; Bowles, Dawn EThe molecular differences between ischemic (IF) and non-ischemic (NIF) heart failure are poorly defined. A better understanding of the molecular differences between these two heart failure etiologies may lead to the development of more effective heart failure therapeutics. In this study extensive proteomic and phosphoproteomic profiles of myocardial tissue from patients diagnosed with IF or NIF were assembled and compared. Proteins extracted from left ventricular sections were proteolyzed and phosphopeptides were enriched using titanium dioxide resin. Gel- and label-free nanoscale capillary liquid chromatography coupled to high resolution accuracy mass tandem mass spectrometry allowed for the quantification of 4,436 peptides (corresponding to 450 proteins) and 823 phosphopeptides (corresponding to 400 proteins) from the unenriched and phospho-enriched fractions, respectively. Protein abundance did not distinguish NIF from IF. In contrast, 37 peptides (corresponding to 26 proteins) exhibited a ≥ 2-fold alteration in phosphorylation state (p<0.05) when comparing IF and NIF. The degree of protein phosphorylation at these 37 sites was specifically dependent upon the heart failure etiology examined. Proteins exhibiting phosphorylation alterations were grouped into functional categories: transcriptional activation/RNA processing; cytoskeleton structure/function; molecular chaperones; cell adhesion/signaling; apoptosis; and energetic/metabolism. Phosphoproteomic analysis demonstrated profound post-translational differences in proteins that are involved in multiple cellular processes between different heart failure phenotypes. Understanding the roles these phosphorylation alterations play in the development of NIF and IF has the potential to generate etiology-specific heart failure therapeutics, which could be more effective than current therapeutics in addressing the growing concern of heart failure.Item Open Access Pulmonary blastomycosis presenting as primary lung cancer.(BMC infectious diseases, 2018-07-18) Hussaini, Syed Mohammed Qasim; Madut, Deng; Tong, Betty C; Pavlisko, Elizabeth N; Schell, Wiley A; Perfect, John R; Thielman, Nathan MBACKGROUND:Blastomycosis is an endemic mycosis in North America that is caused by the dimorphic fungus Blastomyces dermatitidis. The illness is a systemic disease with a wide variety of pulmonary and extra-pulmonary manifestations. The initial presentation of blastomycosis may easily be mistaken for other infectious or non-infectious etiologies. CASE PRESENTATION:We present the case of a 52-year-old African-American male and former smoker that presented to his primary care provider with a 2-week history of non-productive cough, night sweats and weight loss. Initially diagnosed with primary lung malignancy, the patient was subsequently found to have pulmonary blastomycosis mimicking lung cancer. The patient underwent a successful course of treatment with posaconazole. CONCLUSIONS:Chronic blastomycosis can present with clinical and radiographic features indistinguishable from thoracic malignancies. There is no clinical syndrome specific for blastomycosis, thus a high degree of suspicion is required for early diagnosis. In this case report, we review recent evidence in radiographic features, diagnostic considerations and treatment of the disease.Item Open Access Relationship of T2-Weighted MRI Myocardial Hyperintensity and the Ischemic Area-At-Risk.(Circ Res, 2015-07-17) Kim, Han W; Van Assche, Lowie; Jennings, Robert B; Wince, W Benjamin; Jensen, Christoph J; Rehwald, Wolfgang G; Wendell, David C; Bhatti, Lubna; Spatz, Deneen M; Parker, Michele A; Jenista, Elizabeth R; Klem, Igor; Crowley, Anna Lisa C; Chen, Enn-Ling; Judd, Robert M; Kim, Raymond JRATIONALE: After acute myocardial infarction (MI), delineating the area-at-risk (AAR) is crucial for measuring how much, if any, ischemic myocardium has been salvaged. T2-weighted MRI is promoted as an excellent method to delineate the AAR. However, the evidence supporting the validity of this method to measure the AAR is indirect, and it has never been validated with direct anatomic measurements. OBJECTIVE: To determine whether T2-weighted MRI delineates the AAR. METHODS AND RESULTS: Twenty-one canines and 24 patients with acute MI were studied. We compared bright-blood and black-blood T2-weighted MRI with images of the AAR and MI by histopathology in canines and with MI by in vivo delayed-enhancement MRI in canines and patients. Abnormal regions on MRI and pathology were compared by (a) quantitative measurement of the transmural-extent of the abnormality and (b) picture matching of contours. We found no relationship between the transmural-extent of T2-hyperintense regions and that of the AAR (bright-blood-T2: r=0.06, P=0.69; black-blood-T2: r=0.01, P=0.97). Instead, there was a strong correlation with that of infarction (bright-blood-T2: r=0.94, P<0.0001; black-blood-T2: r=0.95, P<0.0001). Additionally, contour analysis demonstrated a fingerprint match of T2-hyperintense regions with the intricate contour of infarcted regions by delayed-enhancement MRI. Similarly, in patients there was a close correspondence between contours of T2-hyperintense and infarcted regions, and the transmural-extent of these regions were highly correlated (bright-blood-T2: r=0.82, P<0.0001; black-blood-T2: r=0.83, P<0.0001). CONCLUSION: T2-weighted MRI does not depict the AAR. Accordingly, T2-weighted MRI should not be used to measure myocardial salvage, either to inform patient management decisions or to evaluate novel therapies for acute MI.Item Open Access Systematic comparison of published host gene expression signatures for bacterial/viral discrimination.(Genome medicine, 2022-02-21) Bodkin, Nicholas; Ross, Melissa; McClain, Micah T; Ko, Emily R; Woods, Christopher W; Ginsburg, Geoffrey S; Henao, Ricardo; Tsalik, Ephraim LBackground
Measuring host gene expression is a promising diagnostic strategy to discriminate bacterial and viral infections. Multiple signatures of varying size, complexity, and target populations have been described. However, there is little information to indicate how the performance of various published signatures compare to one another.Methods
This systematic comparison of host gene expression signatures evaluated the performance of 28 signatures, validating them in 4589 subjects from 51 publicly available datasets. Thirteen COVID-specific datasets with 1416 subjects were included in a separate analysis. Individual signature performance was evaluated using the area under the receiving operating characteristic curve (AUC) value. Overall signature performance was evaluated using median AUCs and accuracies.Results
Signature performance varied widely, with median AUCs ranging from 0.55 to 0.96 for bacterial classification and 0.69-0.97 for viral classification. Signature size varied (1-398 genes), with smaller signatures generally performing more poorly (P < 0.04). Viral infection was easier to diagnose than bacterial infection (84% vs. 79% overall accuracy, respectively; P < .001). Host gene expression classifiers performed more poorly in some pediatric populations (3 months-1 year and 2-11 years) compared to the adult population for both bacterial infection (73% and 70% vs. 82%, respectively; P < .001) and viral infection (80% and 79% vs. 88%, respectively; P < .001). We did not observe classification differences based on illness severity as defined by ICU admission for bacterial or viral infections. The median AUC across all signatures for COVID-19 classification was 0.80 compared to 0.83 for viral classification in the same datasets.Conclusions
In this systematic comparison of 28 host gene expression signatures, we observed differences based on a signature's size and characteristics of the validation population, including age and infection type. However, populations used for signature discovery did not impact performance, underscoring the redundancy among many of these signatures. Furthermore, differential performance in specific populations may only be observable through this type of large-scale validation.