Sample records for initial diagnostic workup
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A preterm infant with intestinal lymphangiectasia: a diagnostic dilemma.
McDonald, Karen Q; Bears, Christina M
2009-01-01
Intestinal lymphangiectasia (IL) is a potentially fatal disorder of the lymphatic system if it is not recognized and proper treatment initiated. The disease is characterized by lymphocytopenia, peripheral edema, and hypoalbuminemia. Because IL is a rare disease, the symptoms, diagnostic workup, and treatment are unfamiliar to many clinicians. Current literature documents only a few reported cases of IL in a preterm infant. This case report of a preterm infant reviews history, symptomatology, and the diagnostic workup performed. The steps in making the diagnosis, the treatment, and the prognosis of this condition are also presented.
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Effect of Radiologists’ Diagnostic Work-up Volume on Interpretive Performance
Anderson, Melissa L.; Smith, Robert A.; Carney, Patricia A.; Miglioretti, Diana L.; Monsees, Barbara S.; Sickles, Edward A.; Taplin, Stephen H.; Geller, Berta M.; Yankaskas, Bonnie C.; Onega, Tracy L.
2014-01-01
Purpose To examine radiologists’ screening performance in relation to the number of diagnostic work-ups performed after abnormal findings are discovered at screening mammography by the same radiologist or by different radiologists. Materials and Methods In an institutional review board–approved HIPAA-compliant study, the authors linked 651 671 screening mammograms interpreted from 2002 to 2006 by 96 radiologists in the Breast Cancer Surveillance Consortium to cancer registries (standard of reference) to evaluate the performance of screening mammography (sensitivity, false-positive rate [FPRfalse-positive rate], and cancer detection rate [CDRcancer detection rate]). Logistic regression was used to assess the association between the volume of recalled screening mammograms (“own” mammograms, where the radiologist who interpreted the diagnostic image was the same radiologist who had interpreted the screening image, and “any” mammograms, where the radiologist who interpreted the diagnostic image may or may not have been the radiologist who interpreted the screening image) and screening performance and whether the association between total annual volume and performance differed according to the volume of diagnostic work-up. Results Annually, 38% of radiologists performed the diagnostic work-up for 25 or fewer of their own recalled screening mammograms, 24% performed the work-up for 0–50, and 39% performed the work-up for more than 50. For the work-up of recalled screening mammograms from any radiologist, 24% of radiologists performed the work-up for 0–50 mammograms, 32% performed the work-up for 51–125, and 44% performed the work-up for more than 125. With increasing numbers of radiologist work-ups for their own recalled mammograms, the sensitivity (P = .039), FPRfalse-positive rate (P = .004), and CDRcancer detection rate (P < .001) of screening mammography increased, yielding a stepped increase in women recalled per cancer detected from 17.4 for 25 or fewer mammograms to 24.6 for more than 50 mammograms. Increases in work-ups for any radiologist yielded significant increases in FPRfalse-positive rate (P = .011) and CDRcancer detection rate (P = .001) and a nonsignificant increase in sensitivity (P = .15). Radiologists with a lower annual volume of any work-ups had consistently lower FPRfalse-positive rate, sensitivity, and CDRcancer detection rate at all annual interpretive volumes. Conclusion These findings support the hypothesis that radiologists may improve their screening performance by performing the diagnostic work-up for their own recalled screening mammograms and directly receiving feedback afforded by means of the outcomes associated with their initial decision to recall. Arranging for radiologists to work up a minimum number of their own recalled cases could improve screening performance but would need systems to facilitate this workflow. © RSNA, 2014 Online supplemental material is available for this article. PMID:24960110
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Effect of radiologists' diagnostic work-up volume on interpretive performance.
Buist, Diana S M; Anderson, Melissa L; Smith, Robert A; Carney, Patricia A; Miglioretti, Diana L; Monsees, Barbara S; Sickles, Edward A; Taplin, Stephen H; Geller, Berta M; Yankaskas, Bonnie C; Onega, Tracy L
2014-11-01
To examine radiologists' screening performance in relation to the number of diagnostic work-ups performed after abnormal findings are discovered at screening mammography by the same radiologist or by different radiologists. In an institutional review board-approved HIPAA-compliant study, the authors linked 651 671 screening mammograms interpreted from 2002 to 2006 by 96 radiologists in the Breast Cancer Surveillance Consortium to cancer registries (standard of reference) to evaluate the performance of screening mammography (sensitivity, false-positive rate [ FPR false-positive rate ], and cancer detection rate [ CDR cancer detection rate ]). Logistic regression was used to assess the association between the volume of recalled screening mammograms ("own" mammograms, where the radiologist who interpreted the diagnostic image was the same radiologist who had interpreted the screening image, and "any" mammograms, where the radiologist who interpreted the diagnostic image may or may not have been the radiologist who interpreted the screening image) and screening performance and whether the association between total annual volume and performance differed according to the volume of diagnostic work-up. Annually, 38% of radiologists performed the diagnostic work-up for 25 or fewer of their own recalled screening mammograms, 24% performed the work-up for 0-50, and 39% performed the work-up for more than 50. For the work-up of recalled screening mammograms from any radiologist, 24% of radiologists performed the work-up for 0-50 mammograms, 32% performed the work-up for 51-125, and 44% performed the work-up for more than 125. With increasing numbers of radiologist work-ups for their own recalled mammograms, the sensitivity (P = .039), FPR false-positive rate (P = .004), and CDR cancer detection rate (P < .001) of screening mammography increased, yielding a stepped increase in women recalled per cancer detected from 17.4 for 25 or fewer mammograms to 24.6 for more than 50 mammograms. Increases in work-ups for any radiologist yielded significant increases in FPR false-positive rate (P = .011) and CDR cancer detection rate (P = .001) and a nonsignificant increase in sensitivity (P = .15). Radiologists with a lower annual volume of any work-ups had consistently lower FPR false-positive rate , sensitivity, and CDR cancer detection rate at all annual interpretive volumes. These findings support the hypothesis that radiologists may improve their screening performance by performing the diagnostic work-up for their own recalled screening mammograms and directly receiving feedback afforded by means of the outcomes associated with their initial decision to recall. Arranging for radiologists to work up a minimum number of their own recalled cases could improve screening performance but would need systems to facilitate this workflow.
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Layfield, Lester J; Wallander, Michelle L
2012-06-01
Gastrointestinal stromal tumors (GIST) are the most common mesenchymal neoplasm arising from the gastrointestinal tract. Workup of these lesions includes morphologic study and immunohistochemical and often molecular diagnostic analysis. Historically, these neoplasms had been included under a number of diagnostic categories including leiomyoma, leiomyosarcoma, schwannoma, and leiomyoblastoma. The lesions that were clearly sarcomatous were difficult to treat and therapeutically refractory to chemotherapeutic agents. Significant progress in our understanding of these neoplasms and our ability to successfully treat them occurred following the discovery that they were immunoreactive for KIT protein and harbored activating mutations in the KIT gene. Many are initially diagnosed by fine-needle aspiration (FNA) but workup may include mutational analysis to help direct therapy. This review outlines a practical approach to the cytologic diagnosis of GISTs and their molecular workup on small specimens obtained by FNA or core biopsy. Copyright © 2012 Wiley Periodicals, Inc.
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[Revision of the Dutch College of General Practitioners practice guideline 'Acute sore throat'].
de Jongh, Egbert; Opstelten, Wim
2015-01-01
The aim of a diagnostic work-up in patients with acute sore throat is to exclude serious causes of tonsillitis and, in cases of a pharyngotonsillitis, to assess the degree of illness and the risk of complications. A diagnostic work-up aimed at the distinction between a viral or bacterial cause of pharyngotonsillitis does not determine initial treatment policy. Pharyngotonsillitis usually has a benign natural course; patient information and analgesia are usually sufficient treatment. Complications of an infection with group A streptococci are rare; diagnostic work-up for this bacterial cause is, therefore, not recommended. Antibiotics are only useful in cases of severe pharyngotonsillitis, increased risk of complications or a peritonsillar infiltration. The antibiotic of choice is a narrow spectrum penicillin; however, amoxicillin/clavulanate is indicated in patients with peritonsillar infiltration. If there is discrepancy in adults between the severity of symptoms and findings on physical examination, the possibility of epiglottitis should be considered.
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Resource use and cost of diagnostic workup of women with suspected breast cancer.
Lee, David W; Stang, Paul E; Goldberg, George A; Haberman, Merle
2009-01-01
We estimated resource use and costs associated with a diagnostic workup for suspected breast cancer among Medicare beneficiaries. Using Medicare claims data, we found that the average cost of a diagnostic workup for suspected breast cancer--whether it eventuated in a breast cancer diagnosis or not--was $361, and did not vary by presentation (signs/symptoms or screening mammography). In the aggregate, we estimate that Medicare spends approximately $679 million annually on diagnostic workups for women with suspected breast cancer, and that false positive mammograms result in diagnostic costs of approximately $250 million.
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Mushlin, A I; Mooney, C; Grow, V; Phelps, C E
1994-01-01
To determine the value of diagnostic information to patients with suspected multiple sclerosis (MS). Because treatment choices would be only minimally affected by earlier diagnosis for most patients with this clinical problem, this study assessed the "nondecisional" value of diagnosis. Prospective survey of patients before and after diagnostic workup, including imaging with magnetic resonance scanning. We assessed the effect of diagnostic information on patients' sense of well-being, as well as direct measures of the utility of information (using time trade-off and willingness-to-pay techniques). Patients referred from primary care practices for diagnostic workup for suspected MS to neurology clinics and practices. Sixty-eight individuals, mean age 37.5 years, 53 female and 15 male. Thirty-one patients were classified as having "probable MS," and 37 were classified as having "possible MS" by the examining neurologist before workup. Present and future health perception, uncertainty about diagnosis-prognosis, and level of anxiety. Willingness to pay for diagnostic information, quality of life as measured by the time trade-off technique, and psychological state of the patient before and after diagnosis. Diagnostic uncertainty fell significantly as a result of the diagnostic workup. Most patients (59/62) said that they were better off having received diagnostic information. Although anxiety seemed to be reduced by testing, overall anxiety levels did not decrease as much as anticipated. Patients also became less optimistic about their future health after testing. On average, patients were willing to forgo 4.5 quality-adjusted life days to receive an earlier diagnosis and their quality of life after diagnosis improved slightly. Subgroups of patients differed in their response to diagnostic information. Those in whom no definitive diagnosis emerged tend to be more anxious rather than being reassured by the "negative" workup. Individuals with "positive" workups became less anxious and expressed favorable feelings about the diagnostic workup even though they often faced a chronic disease. Overall, the diagnostic workup seemed to benefit patients and improve their sense of well-being. However, whether the effects were beneficial or not depended on the results of the diagnostic workup itself. In clinical practice the decision to undergo testing in situations in which definitive treatment is unavailable should be individualized. The potential for negative as well as positive consequences should be recognized.
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Diagnostic work-up and loss of tuberculosis suspects in Jogjakarta, Indonesia.
Ahmad, Riris Andono; Matthys, Francine; Dwihardiani, Bintari; Rintiswati, Ning; de Vlas, Sake J; Mahendradhata, Yodi; van der Stuyft, Patrick
2012-02-15
Early and accurate diagnosis of pulmonary tuberculosis (TB) is critical for successful TB control. To assist in the diagnosis of smear-negative pulmonary TB, the World Health Organisation (WHO) recommends the use of a diagnostic algorithm. Our study evaluated the implementation of the national tuberculosis programme's diagnostic algorithm in routine health care settings in Jogjakarta, Indonesia. The diagnostic algorithm is based on the WHO TB diagnostic algorithm, which had already been implemented in the health facilities. We prospectively documented the diagnostic work-up of all new tuberculosis suspects until a diagnosis was reached. We used clinical audit forms to record each step chronologically. Data on the patient's gender, age, symptoms, examinations (types, dates, and results), and final diagnosis were collected. Information was recorded for 754 TB suspects; 43.5% of whom were lost during the diagnostic work-up in health centres, 0% in lung clinics. Among the TB suspects who completed diagnostic work-ups, 51.1% and 100.0% were diagnosed without following the national TB diagnostic algorithm in health centres and lung clinics, respectively. However, the work-up in the health centres and lung clinics generally conformed to international standards for tuberculosis care (ISTC). Diagnostic delays were significantly longer in health centres compared to lung clinics. The high rate of patients lost in health centres needs to be addressed through the implementation of TB suspect tracing and better programme supervision. The national TB algorithm needs to be revised and differentiated according to the level of care.
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Diagnostic work-up and loss of tuberculosis suspects in Jogjakarta, Indonesia
2012-01-01
Background Early and accurate diagnosis of pulmonary tuberculosis (TB) is critical for successful TB control. To assist in the diagnosis of smear-negative pulmonary TB, the World Health Organisation (WHO) recommends the use of a diagnostic algorithm. Our study evaluated the implementation of the national tuberculosis programme's diagnostic algorithm in routine health care settings in Jogjakarta, Indonesia. The diagnostic algorithm is based on the WHO TB diagnostic algorithm, which had already been implemented in the health facilities. Methods We prospectively documented the diagnostic work-up of all new tuberculosis suspects until a diagnosis was reached. We used clinical audit forms to record each step chronologically. Data on the patient's gender, age, symptoms, examinations (types, dates, and results), and final diagnosis were collected. Results Information was recorded for 754 TB suspects; 43.5% of whom were lost during the diagnostic work-up in health centres, 0% in lung clinics. Among the TB suspects who completed diagnostic work-ups, 51.1% and 100.0% were diagnosed without following the national TB diagnostic algorithm in health centres and lung clinics, respectively. However, the work-up in the health centres and lung clinics generally conformed to international standards for tuberculosis care (ISTC). Diagnostic delays were significantly longer in health centres compared to lung clinics. Conclusions The high rate of patients lost in health centres needs to be addressed through the implementation of TB suspect tracing and better programme supervision. The national TB algorithm needs to be revised and differentiated according to the level of care. PMID:22333111
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Golestaneh, Ladan; Neugarten, Joel; Southern, William; Kargoli, Faraj; Raff, Amanda
2017-03-01
Hyponatremia is a common electrolyte disorder and is associated with mortality. We examined the frequency of appropriate testing in response to an episode of inpatient hyponatremia in a large urban hospital to better inform our educational intervention. We then evaluated the impact of a live CME activity with a focus on CKD- and ESRD-associated hyponatremia physiology, on diagnostic practices of audience hospitalist attendings. We performed a retrospective database analysis of all patients admitted to Montefiore Medical Center in 2014 to examine the performance of hospital staff in response to hyponatremia across all CKD stages. We then did a comparative analysis of diagnostic workup orders for hyponatremic patients admitted to audience members of a live CME activity in the 4 months prior as compared to the 4 months after the activity. The prevalence of hyponatremia was 27% in a cohort of hospitalized patients: 41% of these hyponatremia inpatients had CKD, and 11.4% had ESRD. Overall less than 10% of patients had orders written for serum and urine osmolality without a differential pattern based on CKD or ESRD diagnosis. Among the patients admitted to the CME audience hospitalists, urine/serum osmolality and urine sodium orders occurred infrequently overall and did not differ after vs. before the lecture. The frequency of appropriate diagnostic orders written in response to an episode of hyponatremia was very low and did not vary based on degree of CKD. A CME activity with an emphasis on the role of CKD/ESRD in diagnostic accuracy did not improve the order quality in a group of audience hospitalists. Efforts to improve the diagnostic workup of hyponatremia with concomitant kidney disease are crucial to proper management of these patients.
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Greulich, Simon; Steubing, Hannah; Birkmeier, Stefan; Grün, Stefan; Bentz, Kerstin; Sechtem, Udo; Mahrholdt, Heiko
2015-11-05
The diagnostic performance of adenosine stress cardiovascular magnetic resonance (CMR) in patients with arrhythmias presenting for work-up of suspected or known CAD is largely unknown, since most CMR studies currently available exclude arrhythmic patients from analysis fearing gating problems, or other artifacts will impair image quality. The primary aim of our study was to evaluate the diagnostic performance of adenosine stress CMR for detection of significant coronary stenosis in patients with arrhythmia presenting for 1) work-up of suspected coronary artery disease (CAD), or 2) work-up of ischemia in known CAD. Patients with arrhythmia referred for work-up of suspected CAD or work-up of ischemia in known CAD undergoing adenosine stress CMR were included if they had coronary angiography within four weeks of CMR. One hundred fifty-nine patients were included (n = 64 atrial fibrillation, n = 87 frequent ventricular extrasystoles, n = 8 frequent supraventricular extrasystoles). Of these, n = 72 had suspected CAD, and n = 87 had known CAD. Diagnostic accuracy of the adenosine stress CMR for detection of significant CAD was 73 % for the entire population (sensitivity 72 %, specificity 76 %). Diagnostic accuracy was 75 % (sensitivity 80 %, specificity 74 %) in patients with suspected CAD, and 74 % (sensitivity 71 %, specificity 79 %) in the group with known CAD. For different types of arrhythmia, diagnostic accuracy of CMR was 70 % in the atrial fibrillation group, and 79 % in patients with ventricular extrasystoles. On a per coronary territory analysis, diagnostic accuracy of CMR was 77 % for stenosis of the left and 82 % for stenosis of the right coronary artery. The present data demonstrates good diagnostic performance of adenosine stress CMR for detection of significant coronary stenosis in patients with arrhythmia presenting for work-up of suspected CAD, or work-up of ischemia in known CAD. This holds true for a per patient, as well as for a per coronary territory analysis.
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Zimmerli, Stefan; Bialek, Ralf; Blau, Igor W; Christe, Andreas; Lass-Flörl, Cornelia; Presterl, Elisabeth
2016-08-01
We describe the case of a patient with a T-lymphoblastic lymphoma whose disseminated mucormycosis was diagnosed with delay, and we address the diagnostic and therapeutic decision-making process and review the diagnostic workup of patients with potential IFD. The diagnosis was delayed despite a suggestive radiological presentation of the patient's pulmonary lesion. The uncommon risk profile (T-lymphoblastic lymphoma, short neutropenic phases) wrongly led to a low level of suspicion. The diagnosis was also hampered by the lack of indirect markers for infections caused by Mucorales, the low sensitivity of both fungal culture and panfungal PCR, and the limited availability of species-specific PCR. A high level of suspicion of IFD is needed, and aggressive diagnostic procedures should be promptly initiated even in apparently low-risk patients with uncommon presentations. The extent of the analytical workup should be decided on a case-by-case base. Diagnostic tests such as the galactomannan and β-D-glucan test and/or PCR on biological material followed by sequencing should be chosen according to their availability and after evaluation of their specificity and sensitivity. In high-risk patients, preemptive therapy with a broad-spectrum mould-active antifungal agent should be started before definitive diagnostic findings become available.
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Gomes, Guilherme Francisco; Bonin, Eduardo Aimore; Noda, Rafael William; Cavazzola, Leandro Totti; Bartholomei, Thiago Ferreira
2016-01-01
Meckel’s diverticulum (MD) is estimated to affect 1%-2% of the general population, and it represents a clinically silent finding of a congenital anomaly in up to 85% of the cases. In adults, MD may cause symptoms, such as overt occult lower gastrointestinal bleeding. The diagnostic imaging workup includes computed tomography scan, magnetic resonance imaging enterography, technetium 99m scintigraphy (99mTc) using either labeled red blood cells or pertechnetate (known as the Meckel’s scan) and angiography. The preoperative detection rate of MD in adults is low, and many patients ultimately undergo exploratory laparoscopy. More recently, however, endoscopic identification of MD has been possible with the use of balloon-assisted enteroscopy via direct luminal access, which also provides visualization of the diverticular ostium. The aim of this study was to review the diagnosis by double-balloon enteroscopy of 4 adults with symptomatic MD but who had negative diagnostic imaging workups. These cases indicate that balloon-assisted enteroscopy is a valuable diagnostic method and should be considered in adult patients who have suspected MD and indefinite findings on diagnostic imaging workup, including negative Meckel’s scan. PMID:27803776
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Salem, Lise Cronberg; Andersen, Birgitte Bo; Nielsen, T. Rune; Stokholm, Jette; Jørgensen, Martin Balslev; Waldemar, Gunhild
2014-01-01
Background Establishing a diagnosis of dementia in young patients may be complex and have significant implications for the patient. The aim of this study was to evaluate the quality of the diagnostic work-up in young patients diagnosed with dementia in the clinical routine. Methods Two hundred patients were randomly selected from 891 patients aged ≤65 years registered with a diagnosis of dementia for the first time in 2008 in Danish hospitals, and 159 medical records were available for review. Three raters evaluated their medical records for the completeness of the diagnostic work-up on which the diagnosis of dementia had been based, using evidence-based guidelines for the diagnostic evaluation of dementia as reference standards. Results According to the rater review, only 111 (70%) patients met the clinical criteria for dementia. An acceptable diagnostic work-up including all items of recommended basic diagnostic evaluation was performed in only 24%, although more often (28%) in the subgroup of patients where dementia was confirmed by raters. Conclusion This first nationwide study of unselected young patients registered with a diagnosis of dementia indicated that the concept of dementia may be misinterpreted by clinicians and that a diagnosis of dementia in the young is only rarely based on a complete basic diagnostic work-up, calling for increased competency. PMID:24711812
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Baer, F M
2007-09-01
The stress-ECG is the most often adopted and most cost effective initial diagnostic test for the assessment of myocardial ischemia in patients with suspected coronary artery disease (CAD). Prerequisites for the diagnostic usefullness of stress-ECG are a clearly interpretable ST-segment, ability to reach the predicted work load, an intermediate pretest probability for CAD ranging between 10% and 90% and the absence of any contraindications for dynamic exercise. Because of the limited diagnostic sensitivity of about 70%, and a high percentage of patients, who are unable to exercise, a negative stress ECG can definitely not exclude hemodynamically significant CAD. Therefore, stress imaging techniques like myocardial scintigraphy, stress-echocardiography and stress magnetic resonance imaging play a major role in the stepwise diagnostic work-up of patients with suspected CAD. These stress imaging techniques are basically interchangeable since no method is definitely superior to one of the others. However, each method has its specific pros and cons and inherent contraindications. Therefore the choice of the stress imaging method and the form of stress applied should be based on the individual patients characteristics to gain optimal image quality and diagnostic accuracy. Moreover, the decision for one method should take the local availability and institutional expertise of diagnostic centers into account. Although partly substituted by stress imaging techniques the stress-ECG still remains the workhorse for a stepwise diagnostic work-up of patients with suspected CAD.
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[Role of cytology in hematopathological diagnostics].
Bode, B; Tinguely, M
2012-07-01
The role of cytology has so far been underrecognized in the diagnostic process of hematopathological questions. This article presents an algorithm which allows a stepwise work-up of cytology specimens obtained by minimally invasive ultrasound-guided fine needle aspiration in patients with unexplained lymph node swelling. Moreover, it is shown how the selective separation of cytology specimens allows the application of immunophenotypic analysis including flow cytometry and immunohistochemistry as well as molecular analyses, such as fluorescence in situ hybridization (FISH) and polymerase chain reaction (PCR) strategies. With the integrative procedure presented, cytology offers an excellent cost-effective tool for the diagnostic approach of patients with suspected hematopathological malignancies allowing a high diagnostic accuracy, ideal for initial diagnosis or follow-up.
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[Spontaneous splenic rupture as complication of infective mononucleosis: a clinical case].
Delle Monache, Guido; Orlando, Dante; Frassanito, Salvatore; Sciarra, Roberto; Rinaldi, Manlio Tullio
2003-01-01
Spontaneous splenic rupture is a very rare complication of infectious mononucleosis, already described by other authors. In this case report we show the findings occurring in a young man who presented with sudden left thoracic pain and dyspnea. The initial work-up was oriented towards a suspected diagnosis of left spontaneous pneumothorax. Initially, little attention was paid to the clinical history that was characterized by flu-like symptoms during the previous 2 weeks; this, along with a rushed physical examination, could have had dramatic consequences, due to the unavoidable diagnostic delay. A thorough clinical evaluation by Internists, coupled with the essential ultrasonographic diagnostic support, allowed an earlier diagnosis followed by definitive cure, i.e. splenectomy.
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Post-operative fever in orthopaedic surgery: How effective is the 'fever workup?'
Ashley, Blair; Spiegel, David A; Cahill, Patrick; Talwar, Divya; Baldwin, Keith D
2017-01-01
Defining the appropriate threshold at which to initiate a fever workup is imperative to promote patient safety, appropriate resource utilization, and antibiotic stewardship. Our group performed a systematic review of the available literature on perioperative fever (POF) workups in orthopaedic patients to evaluate the frequency, timing and utility of blood cultures (BC) and other investigations in the POF workup, to determine the clinical relevance of any infections and to evaluate their cost effectiveness. Studies were identified by searching MEDLINE, EMBASE, Pubmed, Cochrane and Google Scholar for articles through September 2016. Forty-nine articles were retrieved and 22 articles met the pre-determined inclusion criteria. Proportions of positive studies were noted and averaged using random effects analysis. Post-operative pyrexia ranged in prevalence between 8.1% and 87.3%. The studies routinely performed during a fever workup had wide ranges of diagnostic yield, including chest X-rays from 0% to 40%, urinalyses from 8.2% to 38.7%, urine cultures from 0% to 22.4% and BC from 0% to 13.3%. Only two patients with positive BC developed clinical sepsis. Cost per fever evaluation ranged from $350 to $950. The findings of this review suggest that early post-operative fever is an expected event following orthopaedic surgery. Based on the available literature, any kind of workup in the absence of localizing symptoms in the third post-operative day or before is unwarranted and is an inappropriate use of hospital resources.
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[Diagnostic workup of fragrance allergy].
Geier, J; Uter, W
2015-09-01
The diagnostic workup of contact allergy to fragrances must not be limited to patch testing with the two well-established fragrance mixes. False-positive reactions to these mixes occur in up to 50 % of the patch tested patients. For the diagnostic work-up of positive reactions, and in cases of suspected fragrance allergy, patch testing with the single mix components and additional fragrances is mandatory. Frequently sensitizing fragrance materials are the 14 components of the two fragrance mixes and tree moss (Evernia furfuracea), ylang ylang oil (I + II; Cananga odorata), lemongrass oil (Cymbopogon schoenanthus), sandalwood oil (Santalum album), jasmine absolute (Jasminum spp.), and, less frequently, clove oil (Eugenia caryophyllus), cedarwood oil (Cedrus atlantica/deodara, Juniperus virginiana), Neroli oil (Citrus aurantium amara flower oil), salicylaldehyde, narcissus absolute (Narcissus spp.), and patchouli oil (Pogostemon cablin).
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Czihal, M; Tatò, F; Förster, S; Rademacher, A; Schulze-Koops, H; Hoffmann, U
2010-01-01
To evaluate the clinical characteristics and imaging results (CDS, 18-FDG-PET) of patients with large vessel giant cell arteritis (LV-GCA) presenting as fever of unknown origin (FUO). From a series of 82 patients with GCA we identified 8 patients with FUO as initial disease manifestation. Clinical characteristics and results of CDS and 18-FDG-PET were analysed. Patients with FUO and those with other clinical manifestations of GCA were compared. 18-FDG-PET-scans were available for 6/8 patients, revealing enhanced tracer uptake of the thoracic aorta and the aortic branches in all patients. CDS was performed in 8/8 patients, with detection of hypoechogenic wall thickening related to LV-GCA in 7/8 patients. Subjects with FUO were significantly younger (60.9 vs. 69.3 years, p<0.01) and had a stronger humoral inflammatory response (CRP 12.6 vs. 7.1 mg/dl, p<0.01; ESR 110 vs. 71 mm/hour, p<0.01), when compared to the other GCA-patients. LV-GCA should be considered as important differential diagnosis in patients with FUO. In addition to 18-FDG-PET, which is known to be a valuable method in the diagnostic work-up of FUO, we recommend CDS of the supraaortal and femoropopliteal arteries for the initial diagnostic work-up.
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Management of Epistaxis in Children and Adolescents: Avoiding a Chaotic Approach.
Svider, Peter; Arianpour, Khashayar; Mutchnick, Sean
2018-06-01
This article provides an organized foundation that facilitates the management of acute epistaxis and an understanding of features that merit further diagnostic workup. Prompt management, including measures such as holding pressure and using nasal packing, takes precedence over comprehensive diagnostic workup. Severe, recurrent, and posteriorly based bleeds should prompt consideration of alternate interventions and expert consultation. Copyright © 2018 Elsevier Inc. All rights reserved.
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[VGKC antibodies associated with limbic encephalitis].
Soeder, B M; Urbach, H; Elger, C E; Bien, C G; Beyenburg, S
2005-06-01
Since the initial description of limbic encephalitis (LE) in 1960/1968, several subforms of this clinico-neuropathological syndrome have been identified. The best known is paraneoplastic LE. However, non-paraneoplastic forms have been reported, too. Very recently, autoantibodies against voltage-gated potassium channels have been described in association with LE. The diagnostic workup of such a case and the apparently typical good response to long-term immunotherapy of this LE subform are described.
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Pivetta, Emanuele; Goffi, Alberto; Lupia, Enrico; Tizzani, Maria; Porrino, Giulio; Ferreri, Enrico; Volpicelli, Giovanni; Balzaretti, Paolo; Banderali, Alessandra; Iacobucci, Antonello; Locatelli, Stefania; Casoli, Giovanna; Stone, Michael B; Maule, Milena M; Baldi, Ileana; Merletti, Franco; Cibinel, Gian Alfonso; Baron, Paolo; Battista, Stefania; Buonafede, Giuseppina; Busso, Valeria; Conterno, Andrea; Del Rizzo, Paola; Ferrera, Patrizia; Pecetto, Paolo Fascio; Moiraghi, Corrado; Morello, Fulvio; Steri, Fabio; Ciccone, Giovannino; Calasso, Cosimo; Caserta, Mimma A; Civita, Marina; Condo', Carmen; D'Alessandro, Vittorio; Del Colle, Sara; Ferrero, Stefania; Griot, Giulietta; Laurita, Emanuela; Lazzero, Alberto; Lo Curto, Francesca; Michelazzo, Marianna; Nicosia, Vincenza; Palmari, Nicola; Ricchiardi, Alberto; Rolfo, Andrea; Rostagno, Roberto; Bar, Fabrizio; Boero, Enrico; Frascisco, Mauro; Micossi, Ilaria; Mussa, Alessandro; Stefanone, Valerio; Agricola, Renzo; Cordero, Gabriele; Corradi, Federica; Runzo, Cristina; Soragna, Aldo; Sciullo, Daniela; Vercillo, Domenico; Allione, Attilio; Artana, Nicoletta; Corsini, Fabrizio; Dutto, Luca; Lauria, Giuseppe; Morgillo, Teresa; Tartaglino, Bruno; Bergandi, Daniela; Cassetta, Ilaria; Masera, Clotilde; Garrone, Mario; Ghiselli, Gianluca; Ausiello, Livia; Barutta, Letizia; Bernardi, Emanuele; Bono, Alessia; Forno, Daniela; Lamorte, Alessandro; Lison, Davide; Lorenzati, Bartolomeo; Maggio, Elena; Masi, Ilaria; Maggiorotto, Matteo; Novelli, Giulia; Panero, Francesco; Perotto, Massimo; Ravazzoli, Marco; Saglio, Elisa; Soardo, Flavia; Tizzani, Alessandra; Tizzani, Pietro; Tullio, Mattia; Ulla, Marco; Romagnoli, Elisa
2015-07-01
Lung ultrasonography (LUS) has emerged as a noninvasive tool for the differential diagnosis of pulmonary diseases. However, its use for the diagnosis of acute decompensated heart failure (ADHF) still raises some concerns. We tested the hypothesis that an integrated approach implementing LUS with clinical assessment would have higher diagnostic accuracy than a standard workup in differentiating ADHF from noncardiogenic dyspnea in the ED. We conducted a multicenter, prospective cohort study in seven Italian EDs. For patients presenting with acute dyspnea, the emergency physician was asked to categorize the diagnosis as ADHF or noncardiogenic dyspnea after (1) the initial clinical assessment and (2) after performing LUS ("LUS-implemented" diagnosis). All patients also underwent chest radiography. After discharge, the cause of each patient's dyspnea was determined by independent review of the entire medical record. The diagnostic accuracy of the different approaches was then compared. The study enrolled 1,005 patients. The LUS-implemented approach had a significantly higher accuracy (sensitivity, 97% [95% CI, 95%-98.3%]; specificity, 97.4% [95% CI, 95.7%-98.6%]) in differentiating ADHF from noncardiac causes of acute dyspnea than the initial clinical workup (sensitivity, 85.3% [95% CI, 81.8%-88.4%]; specificity, 90% [95% CI, 87.2%-92.4%]), chest radiography alone (sensitivity, 69.5% [95% CI, 65.1%-73.7%]; specificity, 82.1% [95% CI, 78.6%-85.2%]), and natriuretic peptides (sensitivity, 85% [95% CI, 80.3%-89%]; specificity, 61.7% [95% CI, 54.6%-68.3%]; n = 486). Net reclassification index of the LUS-implemented approach compared with standard workup was 19.1%. The implementation of LUS with the clinical evaluation may improve accuracy of ADHF diagnosis in patients presenting to the ED. Clinicaltrials.gov; No.: NCT01287429; URL: www.clinicaltrials.gov.
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Ghadri, Jelena-Rima; Wittstein, Ilan Shor; Prasad, Abhiram; Sharkey, Scott; Dote, Keigo; Akashi, Yoshihiro John; Cammann, Victoria Lucia; Crea, Filippo; Galiuto, Leonarda; Desmet, Walter; Yoshida, Tetsuro; Manfredini, Roberto; Eitel, Ingo; Kosuge, Masami; Nef, Holger M; Deshmukh, Abhishek; Lerman, Amir; Bossone, Eduardo; Citro, Rodolfo; Ueyama, Takashi; Corrado, Domenico; Kurisu, Satoshi; Ruschitzka, Frank; Winchester, David; Lyon, Alexander R; Omerovic, Elmir; Bax, Jeroen J; Meimoun, Patrick; Tarantini, Guiseppe; Rihal, Charanjit; Y-Hassan, Shams; Migliore, Federico; Horowitz, John D; Shimokawa, Hiroaki; Lüscher, Thomas Felix; Templin, Christian
2018-06-07
The clinical expert consensus statement on takotsubo syndrome (TTS) part II focuses on the diagnostic workup, outcome, and management. The recommendations are based on interpretation of the limited clinical trial data currently available and experience of international TTS experts. It summarizes the diagnostic approach, which may facilitate correct and timely diagnosis. Furthermore, the document covers areas where controversies still exist in risk stratification and management of TTS. Based on available data the document provides recommendations on optimal care of such patients for practising physicians.
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Ghadri, Jelena-Rima; Wittstein, Ilan Shor; Prasad, Abhiram; Sharkey, Scott; Dote, Keigo; Akashi, Yoshihiro John; Cammann, Victoria Lucia; Crea, Filippo; Galiuto, Leonarda; Desmet, Walter; Yoshida, Tetsuro; Manfredini, Roberto; Eitel, Ingo; Kosuge, Masami; Nef, Holger M; Deshmukh, Abhishek; Lerman, Amir; Bossone, Eduardo; Citro, Rodolfo; Ueyama, Takashi; Corrado, Domenico; Kurisu, Satoshi; Ruschitzka, Frank; Winchester, David; Lyon, Alexander R; Omerovic, Elmir; Bax, Jeroen J; Meimoun, Patrick; Tarantini, Guiseppe; Rihal, Charanjit; Y.-Hassan, Shams; Migliore, Federico; Horowitz, John D; Shimokawa, Hiroaki; Lüscher, Thomas Felix; Templin, Christian
2018-01-01
Abstract The clinical expert consensus statement on takotsubo syndrome (TTS) part II focuses on the diagnostic workup, outcome, and management. The recommendations are based on interpretation of the limited clinical trial data currently available and experience of international TTS experts. It summarizes the diagnostic approach, which may facilitate correct and timely diagnosis. Furthermore, the document covers areas where controversies still exist in risk stratification and management of TTS. Based on available data the document provides recommendations on optimal care of such patients for practising physicians. PMID:29850820
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Iden, Kristina Riis; Engedal, Knut; Hjorleifsson, Stefan; Ruths, Sabine
2014-01-01
We aimed to establish the prevalence of depression among recently admitted long-term care patients and to examine associations with diagnostic initiatives and treatment as recorded in patients' medical records. Eighty-eight long-term care patients were included. Depression was diagnosed according to the ICD-10 criteria; patients were screened for depression using the Cornell Scale for Depression in Dementia (CSDD) and for dementia with the Clinical Dementia Rating (CDR) scale. Depression was found in 25% of the patients according to the ICD-10 criteria and in 31% according to a CSDD sum score of ≥ 8. Diagnostic initiatives were documented in the medical records of half of the patients with depression. Forty-four percent of the patients were prescribed antidepressants and 23% actually received them for the treatment of depression. Depression was prevalent among recently admitted long-term care patients, but diagnostic initiatives were too rarely used. Antidepressants were commonly prescribed, but depression was the indication for treatment in only half of the cases. Screening for depression should be mandatory on admission.
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Khalid, Ayesha N; Hollenbeak, Christopher S; Quraishi, Sadeq A; Fan, Chris Y; Stack, Brendan C
2006-03-01
To compare the cost-effectiveness of fine-needle aspiration biopsy, iodine 131 scintigraphy, and ultrasonography for the initial diagnostic workup of a solitary palpable thyroid nodule. A deterministic cost-effectiveness analysis was conducted using a decision tree to model the diagnostic strategies. A single, mid-Atlantic academic medical center. Expected costs, expected number of cases correctly diagnosed, and incremental cost per additional case correctly diagnosed. Relative to the routine use of fine-needle aspiration biopsy, the incremental cost per case correctly diagnosed is 24,554 dollars for the iodine 131 scintigraphy strategy and 1212 dollars for the ultrasound strategy. A diagnostic strategy using initial fine-needle aspiration biopsy for palpable thyroid nodules was found to be cost-effective compared with the other approaches as long as a payor's willingness to pay for an additional correct diagnosis is less than 1212 dollars. Prospective studies are needed to validate these finding in clinical practice.
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[Mobile stroke unit for prehospital stroke treatment].
Walter, S; Grunwald, I Q; Fassbender, K
2016-01-01
The management of acute stroke patients suffers from several major problems in the daily clinical routine. In order to achieve optimal treatment a complex diagnostic work-up and rapid initiation of therapy are necessary; however, most patients arrive at hospital too late for any type of acute stroke treatment, although all forms of treatment are highly time-dependent according to the generally accepted "time is brain" concept. Recently, two randomized clinical trials demonstrated the feasibility of prehospital stroke diagnostic work-up and treatment. This was accomplished by use of a specialized ambulance, equipped with computed tomography for multimodal imaging and a point-of-care laboratory system. In both trials the results demonstrated a clear superiority of the prehospital treatment group with a significant reduction of treatment times, significantly increased number of patients treated within the first 60 min after symptom onset and an optimized triage to the correct target hospital. Currently, mobile stroke units are in operation in various countries and should lead to an improvement in stroke treatment; nevertheless, intensive research is still needed to analyze the best framework settings for prehospital stroke management.
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Added value of cardiac magnetic resonance in etiological diagnosis of ventricular arrhythmias.
Cabanelas, Nuno; Vidigal Ferreira, Maria João; Donato, Paulo; Gaspar, António; Pinto, Joana; Caseiro-Alves, Filipe; Providência, Luís Augusto
2013-10-01
Cardiac magnetic resonance (CMR) imaging is increasingly important in the diagnostic work-up of a wide range of heart diseases, including those with arrhythmogenic potential. To assess the added value of CMR in etiological diagnosis of ventricular arrhythmias after an inconclusive conventional investigation. Patients undergoing CMR between 2005 and 2011 for investigation of ventricular arrhythmias were included (n=113). All had documented arrhythmias. Those with a definite diagnosis from a previous investigation and those with evidence of coronary artery disease (acute coronary syndrome, typical angina symptoms, increase in biomarkers or positive stress test) were excluded. CMR results were considered relevant when they fulfilled diagnostic criteria. Of the 113 patients, 57.5% were male and mean age was 41.7 ± 16.2 years. Regarding the initial arrhythmia, 38.1% had ventricular fibrillation/sustained ventricular tachycardia (VF/VT) and 61.9% had less complex ventricular ectopy. CMR imaging showed criteria of a specific diagnosis in 42.5% of patients, was totally normal in 36.3%, and showed non-specific alterations in the remainder. In VF/VT patients, specific criteria were found in 60.4%, and in 31.4% of those with less complex ectopy. The most frequent diagnoses were arrhythmogenic right ventricular dysplasia, ventricular non-compaction and myopericarditis. It is worth noting that, although there was no evidence of previous coronary artery disease, 6.2% of patients had a late gadolinium enhancement distribution pattern compatible with myocardial infarction. CMR gives additional and important information in the diagnostic work-up of ventricular arrhythmias after an inconclusive initial investigation. The proportion of patients with diagnostic criteria was 42.5% (60.0% in those with VF/VT), and CMR was completely normal in 36.6%. Copyright © 2012 Sociedade Portuguesa de Cardiologia. Published by Elsevier España. All rights reserved.
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Redo pullthrough for Hirschsprung disease.
Ralls, Matthew W; Coran, Arnold G; Teitelbaum, Daniel H
2017-04-01
Pullthrough procedures for Hirschsprung diseases typically have favorable results. However, some children experience long-term postoperative complications comprising stooling disorders, such as intermittent enterocolitis, severe stool retention, intestinal obstruction, as well as incontinence. Reoperative Hirschsprung Disease surgery is complex. This begins with the workup after the initial presentation following primary pullthrough, continues with the definitive surgical correction with redo pullthrough, and ends with long-term follow-up of individuals. The decision tree can be varied with each patient. The operating pediatric surgeon must be able to utilize different operations and treatment options available. While lesser procedures may provide relief in a select population, those with residual aganglionosis or transition zone pathology or mechanical problems will likely require a redo pullthrough. Thus, the diagnostic workup, treatment plan, and definitive surgical care should be coordinated, and executed by an experienced, specialized team at a pediatric referral center.
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Adjusting for partial verification or workup bias in meta-analyses of diagnostic accuracy studies.
de Groot, Joris A H; Dendukuri, Nandini; Janssen, Kristel J M; Reitsma, Johannes B; Brophy, James; Joseph, Lawrence; Bossuyt, Patrick M M; Moons, Karel G M
2012-04-15
A key requirement in the design of diagnostic accuracy studies is that all study participants receive both the test under evaluation and the reference standard test. For a variety of practical and ethical reasons, sometimes only a proportion of patients receive the reference standard, which can bias the accuracy estimates. Numerous methods have been described for correcting this partial verification bias or workup bias in individual studies. In this article, the authors describe a Bayesian method for obtaining adjusted results from a diagnostic meta-analysis when partial verification or workup bias is present in a subset of the primary studies. The method corrects for verification bias without having to exclude primary studies with verification bias, thus preserving the main advantages of a meta-analysis: increased precision and better generalizability. The results of this method are compared with the existing methods for dealing with verification bias in diagnostic meta-analyses. For illustration, the authors use empirical data from a systematic review of studies of the accuracy of the immunohistochemistry test for diagnosis of human epidermal growth factor receptor 2 status in breast cancer patients.
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Pletscher, Mark; Walker, Simon; Moschetti, Karine; Pinget, Christophe; Wasserfallen, Jean-Blaise; Greenwood, John P; Schwitter, Juerg; Girardin, François R
2016-07-01
The aim of this study was to assess the cost-effectiveness of eight common diagnostic work-up strategies for coronary heart disease (CHD) in patients with stable angina symptoms in Switzerland. A decision analytical model was used to perform a cost-effectiveness comparison of eight common multitest strategies to diagnose CHD using combinations of four diagnostic techniques: exercise treadmill test (ETT), single-photon emission computed tomography (SPECT), cardiac magnetic resonance imaging (CMR), and coronary angiography (CA). We used a Markov state transition model to extrapolate the results over a life-time horizon, from a third-party payer perspective. We used a CHD prevalence rate of 39% in patients and a base-case scenario with 60-year-old male patients with intermediate symptom severity Canadian Cardiovascular Society grading of angina pectoris 2 and at least one cardiovascular (CV) risk factor but without a history of myocardial infarction and without need for revascularization. Among the eight work-up strategies, one strategy was dominant, i.e. least costly and most effective: ETT followed by CMR if the ETT result was inconclusive and then CA if the CMR result was positive or inconclusive. The CMR features a favourable balance between false-negative diagnoses, associated with an elevated risk of CV events, and false-positive diagnoses, leading to unnecessary CA and related mortality. Key parameters guiding the diagnostic strategy are the prevalence of CHD in patients with angina symptoms and the diagnostic costs of CA and CMR. Cardiac magnetic resonance imaging appears to be a cost-effective work-up strategy compared with other regimens using SPECT or direct CA. Cardiac magnetic resonance imaging should be more widely recommended as a diagnostic procedure for patients with suspected angina symptoms.
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Costovertebral joint dysfunction: another misdiagnosed cause of atypical chest pain.
Arroyo, J. F.; Jolliet, P.; Junod, A. F.
1992-01-01
The diagnostic work-up of atypical chest pain frequently leads to invasive procedures. However, this painful symptomatology can sometimes be of benign origin and respond to simple therapeutic manoeuvres. A number of musculoskeletal conditions such as costovertebral joint dysfunctions should be carefully considered. We report five cases in which patient discomfort and high costs could have been avoided if awareness of these conditions had led to a correct diagnosis upon initial physical examination. PMID:1448407
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Precursor B-cell lymphoblastic lymphoma of oral cavity: A case report with its diagnostic workup
Talreja, Komal Ladharam; Barpande, Suresh Ramchandra; Bhavthankar, Jyoti Dilip; Mandale, Mandakini S
2016-01-01
Lymphoblastic lymphoma (LBL), seen primarily in children or young adults, is a malignant neoplasia that originates from B or T lymphocyte precursors and rarely occurs in the oral cavity. In this localization, neither the clinical features nor the radiologic appearances are pathognomic and can pose significant diagnostic problems. Histopathologically, it presents as a round blue cell tumor. An early and accurate diagnosis of this entity is very important due to its high cure rate. We report a case of B-cell LBL involving oral cavity in a 10-year-old child. The purpose of this report is to explore the diagnostic workup. PMID:27194876
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Surgical management of patients with primary brain tumors.
Bohan, Eileen; Glass-Macenka, Deanna
2004-11-01
To provide an overview of the diagnostic work-up, intraoperative technologies, postoperative treatment options, and investigational new therapies in patients with malignant brain tumors. Published textbooks and articles and other reference materials. Recent improvements in diagnostic and surgical equipment have influenced outcomes and overall quality of life for patients with central nervous system tumors. The ability to more accurately target and more safely remove brain tumors has enhanced the postoperative period and decreased hospital stays. However, malignant neoplasms continue to be refractory to current treatments, necessitating innovative surgical approaches at the time of initial diagnosis and at tumor recurrence. Nurses with an understanding of current diagnostic and surgical treatment modalities for brain tumors are able to provide accurate patient education and comprehensive care, enhancing the overall hospital and outpatient experience.
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Making the diagnosis of Sjögren's syndrome in patients with dry eye.
Beckman, Kenneth A; Luchs, Jodi; Milner, Mark S
2016-01-01
Sjögren's syndrome (SS) is a chronic and progressive systemic autoimmune disease that often presents initially with symptoms of dry eye and dry mouth. Symptoms are often nonspecific and develop gradually, making diagnosis difficult. Patients with dry eye complaints warrant a step-wise evaluation for possible SS. Initial evaluation requires establishment of a dry eye diagnosis using a combination of patient questionnaires and objective ocular tests, including inflammatory biomarker testing. Additional work-up using the Schirmer test and tear film break-up time can differentiate between aqueous-deficient dry eye (ADDE) and evaporative dry eye. The presence of ADDE should trigger further work-up to differentiate between SS-ADDE and non-SS-ADDE. There are numerous non-ocular manifestations of SS, and monitoring for SS-related comorbid findings can aid in diagnosis, ideally in collaboration with a rheumatologist. The clinical work-up of SS can involve a variety of tests, including tear function tests, serological tests for autoantibody biomarkers, minor salivary gland and lacrimal gland biopsies. Examination of classic SS biomarkers (SS-A/Ro, SS-B/La, antinuclear antibody, and rheumatoid factor) is a convenient and non-invasive way of evaluating patients for the presence of SS, even years prior to confirmed diagnosis, although not all SS patients will test positive, particularly those with early disease. Recently, newer biomarkers have been identified, including autoantibodies to salivary gland protein-1, parotid secretory protein, and carbonic anhydrase VI, and may allow for earlier diagnosis of SS. A diagnostic test kit is commercially available (Sjö(®)), incorporating these new biomarkers along with the classic autoantibodies. This advanced test has been shown to identify SS patients who previously tested negative against traditional biomarkers only. All patients with clinically significant ADDE should be considered for serological assessment for SS, given the availability of new serological diagnostic tests and the potentially serious consequences of missing the diagnosis.
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Making the diagnosis of Sjögren’s syndrome in patients with dry eye
Beckman, Kenneth A; Luchs, Jodi; Milner, Mark S
2016-01-01
Sjögren’s syndrome (SS) is a chronic and progressive systemic autoimmune disease that often presents initially with symptoms of dry eye and dry mouth. Symptoms are often nonspecific and develop gradually, making diagnosis difficult. Patients with dry eye complaints warrant a step-wise evaluation for possible SS. Initial evaluation requires establishment of a dry eye diagnosis using a combination of patient questionnaires and objective ocular tests, including inflammatory biomarker testing. Additional work-up using the Schirmer test and tear film break-up time can differentiate between aqueous-deficient dry eye (ADDE) and evaporative dry eye. The presence of ADDE should trigger further work-up to differentiate between SS-ADDE and non-SS-ADDE. There are numerous non-ocular manifestations of SS, and monitoring for SS-related comorbid findings can aid in diagnosis, ideally in collaboration with a rheumatologist. The clinical work-up of SS can involve a variety of tests, including tear function tests, serological tests for autoantibody biomarkers, minor salivary gland and lacrimal gland biopsies. Examination of classic SS biomarkers (SS-A/Ro, SS-B/La, antinuclear antibody, and rheumatoid factor) is a convenient and non-invasive way of evaluating patients for the presence of SS, even years prior to confirmed diagnosis, although not all SS patients will test positive, particularly those with early disease. Recently, newer biomarkers have been identified, including autoantibodies to salivary gland protein-1, parotid secretory protein, and carbonic anhydrase VI, and may allow for earlier diagnosis of SS. A diagnostic test kit is commercially available (Sjö®), incorporating these new biomarkers along with the classic autoantibodies. This advanced test has been shown to identify SS patients who previously tested negative against traditional biomarkers only. All patients with clinically significant ADDE should be considered for serological assessment for SS, given the availability of new serological diagnostic tests and the potentially serious consequences of missing the diagnosis. PMID:26766898
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Le Dault, E; Lagarde, S; Guedj, E; Dufournet, B; Rey, C; Kaphan, E; Tanguy, G; Bregigeon, M; Sagui, E; Brosset, C
2016-02-01
Anti-leucine rich glioma inactivated 1 encephalitis is a common and a treatable etiology of autoimmune encephalitis. Its diagnosis is a challenge because the initial diagnostic work-up is often normal. A 48-year-old man experienced cognitive and behavioral troubles, facio-brachial dystonic seizures and a syndrome of inappropriate antidiuretic hormone secretion. First line tests excluded infectious, neoplastic, systemic inflammatory, endrocrine or toxic etiologies. Cerebral (18)Fluoro-desoxy-glucose (FDG) position emission tomography and research of specific antibodies in cerebro-spinal fluid and serum led to diagnose an anti-leucine rich glioma inactivated 1 encephalitis. Intravenous immunoglobulins and corticosteroids were partially effective. Cyclophosphamid permitted a good recovery. In the presence of acute neuropsychiatric disorders with a negative etiologic research, physician should think about dysimmune encephalitis. Facio-brachial dystonic seizures and syndrome of inappropriate antidiuretic hormone secretion are highly evocative of anti-leucine rich glioma inactivated 1 encephalitis. The diagnosis needs specific diagnostic tests (cerebral (18)FDG position emission tomography and antibodies research in cerebro-spinal fluid and in serum), after the exclusion of alternative diagnoses. Extensive and repeated diagnostic work-up for neoplasia is required. Immunosupressive therapies are effective in most cases. Copyright © 2015 Société nationale française de médecine interne (SNFMI). Published by Elsevier SAS. All rights reserved.
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Lewerenz, J; Jarius, S; Wildemann, B; Wandinger, K-P; Leypoldt, F
2016-12-01
There is no other field of neurology where clinically relevant serological biomarkers have witnessed a surge in importance over the past decade resembling that in autoimmune encephalitis and cerebellitis. A multitude of newly discovered neuronal autoantibodies facilitate early diagnosis, estimation of prognosis, and therapeutic decision-making. However, this has led to growing uncertainty with regard to meaningful patient selection, the appropriate extent of testing, and management of seronegative cases. This review summarizes the essential aspects of the clinical presentation, diagnostic work-up, pathophysiology, and treatment of autoimmune encephalitis and cerebellitis.
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Dutch digital breast cancer screening: implications for breast cancer care.
Timmers, Johanna M; den Heeten, Gerard J; Adang, Eddy M; Otten, Johannes D; Verbeek, André L; Broeders, Mireille J
2012-12-01
In comparison to other European population-based breast cancer screening programmes, the Dutch programme has a low referral rate, similar breast cancer detection and a high breast cancer mortality reduction. The referral rate in the Netherlands has increased over time and is expected to rise further, mainly following nationwide introduction of digital mammography, completed in 2010. This study explores the consequences of the introduction of digital mammography on the balance between referral rate, detection of breast cancer, diagnostic work-up and associated costs. Detailed information on diagnostic work-up (chart review) was obtained from referred women (n = 988) in 2000-06 (100% analogue mammography) and 2007 (75% digital mammography) in Nijmegen, the Netherlands. The average referral rate increased from 15 (2000-06) to 34 (2007) per 1000 women screened. The number of breast cancers detected increased from 5.5 to 7.8 per 1000 screens, whereas the positive predictive value fell from 37% to 23%. A sharp rise in diagnostic work-up procedures and total diagnostic costs was seen. On the other hand, costs of a single work-up slightly decreased, as less surgical biopsies were performed. Our study shows that a low referral rate in combination with the introduction of digital mammography affects the balance between referral rate and detection rate and can substantially influence breast cancer care and associated costs. Referral rates in the Netherlands are now more comparable to other countries. This effect is therefore of value in countries where implementation of digital breast cancer screening has just started or is still under discussion.
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Schaefgen, Benedikt; Heil, Joerg; Barr, Richard G; Radicke, Marcus; Harcos, Aba; Gomez, Christina; Stieber, Anne; Hennigs, André; von Au, Alexandra; Spratte, Julia; Rauch, Geraldine; Rom, Joachim; Schütz, Florian; Sohn, Christof; Golatta, Michael
2018-06-01
To determine the feasibility of a prototype device combining 3D-automated breast ultrasound (ABVS) and digital breast tomosynthesis in a single device to detect and characterize breast lesions. In this prospective feasibility study, the FUSION-X-US prototype was used to perform digital breast tomosynthesis and ABVS in 23 patients with an indication for tomosynthesis based on current guidelines after clinical examination and standard imaging. The ABVS and tomosynthesis images of the prototype were interpreted separately by two blinded experts. The study compares the detection and BI-RADS® scores of breast lesions using only the tomosynthesis and ABVS data from the FUSION-X-US prototype to the results of the complete diagnostic workup. Image acquisition and processing by the prototype was fast and accurate, with some limitations in ultrasound coverage and image quality. In the diagnostic workup, 29 solid lesions (23 benign, including three cases with microcalcifications, and six malignant lesions) were identified. Using the prototype, all malignant lesions were detected and classified as malignant or suspicious by both investigators. Solid breast lesions can be localized accurately and fast by the Fusion-X-US system. Technical improvements of the ultrasound image quality and ultrasound coverage are needed to further study this new device. The prototype combines tomosynthesis and automated 3D-ultrasound (ABVS) in one device. It allows accurate detection of malignant lesions, directly correlating tomosynthesis and ABVS data. The diagnostic evaluation of the prototype-acquired data was interpreter-independent. The prototype provides a time-efficient and technically reliable diagnostic procedure. The combination of tomosynthesis and ABVS is a promising diagnostic approach.
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Bone sialoprotein in laboratory diagnostic work-up of osteoarthritis.
Lis, Kinga
2008-01-01
Changes in osteoarthritis joint appear in the articular cartilage, synovium and in subchondral bone. It is necessary to find, apart from markers of cartilage destruction, a sensitive and specific biochemical marker which would reflect the metabolism as well as degradation of subchondral bone. Bone sialoprotein is mostly synthesized in osseous tissue found directly under the surface of joint cartilage. As a result, it is being increasingly perceived as a valuable marker of the metabolism rate of this layer of bone. Bone sialoprotein seems to be of use as a marker for subchondral bone degradation rate in laboratory diagnostic work-up of osteoarthritis.
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Lipasti, Seppo; Anttila, Ahti; Pamilo, Martti
2010-06-01
Limited information is available concerning differences in the radiological findings of women recalled for diagnostic work-up in digital mammography (DM) versus screen-film mammography (SFM) screening. To compare the radiological findings, their positive predictive values (PPVs) for cancer and other process indicators of DM screening performed by computed radiography (CR) technology and SFM screening in a population-based program. The material consisted of women, 50-59 years of age, who were invited for screening: 30 153 women with DM in 2007-2008 and 32 939 women with SFM in 1999-2000. The attendance rate was 77.7% (23 440) in the DM arm and 83.8% (27 593) in the SFM arm. In the DM arm, 1.71% of those screened (401) and in the SFM arm 1.59% (438) were recalled for further work-up. The images resulting in the recall were classified as: 1) tumor-like mass, 2) parenchymal distortion/asymmetry, 3) calcifications, and 4) combination of mass and calcifications. The distributions of the various radiological findings and their PPVs for cancer were compared in both study groups. The recall rates, cancer detection rates, test specificities, and PPVs of the DM and SFM groups were also compared. Women were recalled for diagnostic work-up most often due to tumor-like mass. It was more common in SFM (1.08% per woman screened) than in DM (0.93%). The second most common finding was parenchymal distortion and asymmetry, more often in DM (0.58%) than in SFM (0.37%). Calcifications were the third most common finding. DM exposed calcifications more often (0.49%) than SFM (0.26%). The PPVs for cancer of the recalls were higher in DM than in SFM in all subgroups of radiological findings. The test specificities were similar (DM 98.9%, SFM 98.8%). Significantly more cancers were detected by DM (cancer detection rate 0.623% per woman screened, n=146) than by SFM (cancer detection rate 0.406% per woman screened, n=112). The PPVs for cancer of all recalls for diagnostic work-up were significantly higher in DM (36%) than in SFM (26%). In DM women were recalled for diagnostic work-up more often for calcifications, parenchymal distortions, and asymmetries than in SFM. In the case of tumor-like masses, more women were recalled in SFM. DM detected more cancers than SFM, and the PPVs for cancer were higher in DM than in SFM in all subgroups of radiological findings.
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Ni Mhuircheartaigh, Neasa; Coffey, Louise; Fleming, Hannah; O' Doherty, Ann; McNally, Sorcha
2017-09-01
To determine if the routine use of spot compression mammography is now obsolete in the assessment of screen detected masses, asymmetries and architectural distortion since the availability of digital breast tomosynthesis. We introduced breast tomosynthesis in the workup of screen detected abnormalities in our screening center in January 2015. During an initial learning period with tomosynthesis standard spot compression views were also performed. Three consultant breast radiologists retrospectively reviewed all screening mammograms recalled for assessment over the first 6-month period. We assessed retrospectively whether there was any additional diagnostic information obtained from spot compression views not already apparent on tomography. All cases were also reviewed for any additional lesions detected by tomosynthesis, not detected on routine 2-view screening mammography. 548 women screened with standard 2-view digital screening mammography were recalled for assessment in the selected period and a total of 565 lesions were assessed. 341 lesions were assessed by both tomosynthesis and routine spot compression mammography. The spot compression view was considered more helpful than tomosynthesis in only one patient. This was because the breast was inadequately positioned for tomosynthesis and the area in question was not adequately imaged. Apart from this technical error there was no asymmetry, distortion or mass where spot compression provided more diagnostic information than tomosynthesis alone. We detected three additional cancers on tomosynthesis, not detected by routine screening mammography. From our initial experience with tomosynthesis we conclude that spot compression mammography is now obsolete in the assessment of screen detected masses, asymmetries and distortions where tomosynthesis is available. © 2017 Wiley Periodicals, Inc.
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Massive ovarian edema, due to adjacent appendicitis.
Callen, Andrew L; Illangasekare, Tushani; Poder, Liina
2017-04-01
Massive ovarian edema is a benign clinical entity, the imaging findings of which can mimic an adnexal mass or ovarian torsion. In the setting of acute abdominal pain, identifying massive ovarian edema is a key in avoiding potential fertility-threatening surgery in young women. In addition, it is important to consider other contributing pathology when ovarian edema is secondary to another process. We present a case of a young woman presenting with subacute abdominal pain, whose initial workup revealed marked enlarged right ovary. Further imaging, diagnostic tests, and eventually diagnostic laparoscopy revealed that the ovarian enlargement was secondary to subacute appendicitis, rather than a primary adnexal process. We review the classic ultrasound and MRI imaging findings and pitfalls that relate to this diagnosis.
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Cipolla, Valentina; Guerrieri, Daniele; Pietrangeli, Daniela; Santucci, Domiziana; Argirò, Renato; de Felice, Carlo
2016-09-01
Imaging evaluation plays a crucial role in the diagnostic work-up of female infertility. In recent years, the possibility to evaluate tubal patency using 1.5 Tesla magnetic resonance (1.5T MR) has been studied. To assess the feasibility of 3.0 Tesla magnetic resonance (3.0T MR) hysterosalpingography and its role in the diagnostic work-up of female infertility and to evaluate if this fast "one-stop-shop" imaging approach should be proposed as a first-line examination. A total of 116 infertile women were enrolled in this prospective study; all underwent 3.0T MR hysterosalpingography. After standard imaging of the pelvis, tubal patency was assessed by acquiring 3D dynamic time-resolved T1-weighted (T1W) sequences during manual injection of 4-5 mL of contrast solution consisting of gadolinium and normal sterile saline. Images were evaluated by two radiologists with different experience in MR imaging (MRI). The examination was successfully completed in 96.5% of cases, failure rate was 3.5%. Dynamic sequences showed bilateral tubal patency in 64.3%, unilateral tubal patency in 25.9%, and bilateral tubal occlusion in 9.8%. Extratubal abnormalities were found in 69.9% of patients. Comprehensive analysis of morphological and dynamic sequences showed extratubal abnormalities in 43.1% of patients with bilateral tubal patency. 3.0T MR hysterosalpingography is a feasible, simple, fast, safe, and well-tolerated examination, which allows evaluation of tubal patency and other pelvic causes of female infertility in a single session, and it may thus represent a "one-stop-shop" solution in female infertility diagnostic work-up. © The Foundation Acta Radiologica 2015.
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An integrated view on the luteal phase: diagnosis and treatment in subfertility.
Sonntag, Barbara; Ludwig, Michael
2012-10-01
The term 'luteal phase deficiency' was first coined more than 60 years ago, and, since then, it has been suggested as a clinical entity per se and an aetiological factor for subfertility, implantation failure and recurrent miscarriage. Despite the existing recommendations for rational work-up in subfertility, luteal phase evaluation and progesterone therapy alone is still common in daily practice. This review comprises results from a Pubmed literature search with the terms 'luteal phase' and 'subfertility', focussing on clinical situations not primarily related to assisted reproduction techniques. Additional data from the experimental studies published in the past 10 years on follicular maturation, oocyte developmental competence and the ovulatory cascade are integrated into the clinical continuum of dysfunctional ovulation, menstrual cycle irregularity and impaired corpus luteum function. As reliable diagnostic tools for adequate luteal function are missing, the presence of clinical symptoms such as cycle irregularity or premenstrual spotting is indicative and should initiate early follicular phase diagnostic work-up. New evidence on the interdependence of oocyte and follicular maturation and resulting developmental competence of the embryo further support the use of ovarian stimulation as the first-line therapeutic option in different subsets of patients with subfertility including luteal phase deficiency. © 2012 Blackwell Publishing Ltd.
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[Symptomatic urinary tract infection of the female--diagnostics].
Bruns, T; Piechota, H; Schneede, P
2006-04-01
The basis for the diagnostic work-up of recurrent cystitis is formed by taking a precise medical history against the background of knowledge of the pathogenesis of urinary tract infections. The anamnesis should also focus on factors that influence the natural flora (sexual intercourse, hygiene) but additionally include preceding antibiotic treatment and diseases that affect the immune status (diabetes mellitus). Urinalysis is the principal examination among the laboratory diagnostic procedures. The diagnosis is promptly confirmed by immediate analysis of a clean catch midstream urine sample using a counting chamber or a test strip. As a matter of principle, microbiological diagnosis always ensues. Extended diagnostic work-up (urological staging) is aimed at detecting functional and anatomic abnormalities. While these factors only play a subordinate role during the premenopausal phase, they gain in importance during the postmenopausal phase. A key role is also attributed to local estrogen deficiency.
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20 CFR 416.919m - Diagnostic tests or procedures.
Code of Federal Regulations, 2011 CFR
2011-04-01
... 20 Employees' Benefits 2 2011-04-01 2011-04-01 false Diagnostic tests or procedures. 416.919m... for Report Content § 416.919m Diagnostic tests or procedures. We will request the results of any diagnostic tests or procedures that have been performed as part of a workup by your treating source or other...
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Roy, Pierre-Marie; Durieux, Pierre; Gillaizeau, Florence; Legall, Catherine; Armand-Perroux, Aurore; Martino, Ludovic; Hachelaf, Mohamed; Dubart, Alain-Eric; Schmidt, Jeannot; Cristiano, Mirko; Chretien, Jean-Marie; Perrier, Arnaud; Meyer, Guy
2009-11-17
Testing for pulmonary embolism often differs from that recommended by evidence-based guidelines. To assess the effectiveness of a handheld clinical decision-support system to improve the diagnostic work-up of suspected pulmonary embolism among patients in the emergency department. Cluster randomized trial. Assignment was by random-number table, providers were not blinded, and outcome assessment was automated. (ClinicalTrials.gov registration number: NCT00188032). 20 emergency departments in France. 1103 and 1768 consecutive outpatients with suspected pulmonary embolism. After a preintervention period involving 20 centers and 1103 patients, in which providers grew accustomed to inputting clinical data into handheld devices and investigators assessed baseline testing, emergency departments were randomly assigned to activation of a decision-support system on the devices (10 centers, 753 patients) or posters and pocket cards that showed validated diagnostic strategies (10 centers, 1015 patients). Appropriateness of diagnostic work-up, defined as any sequence of tests that yielded a posttest probability less than 5% or greater than 85% (primary outcome) or as strict adherence to guideline recommendations (secondary outcome); number of tests per patient (secondary outcome). The proportion of patients who received appropriate diagnostic work-ups was greater during the trial than in the preintervention period in both groups, but the increase was greater in the computer-based guidelines group (adjusted mean difference in increase, 19.3 percentage points favoring computer-based guidelines [95% CI, 2.9 to 35.6 percentage points]; P = 0.023). Among patients with appropriate work-ups, those in the computer-based guidelines group received slightly fewer tests than did patients in the paper guidelines group (mean tests per patient, 1.76 [SD, 0.98] vs. 2.25 [SD, 1.04]; P < 0.001). The study was not designed to show a difference in the clinical outcomes of patients during follow-up. A handheld decision-support system improved diagnostic decision making for patients with suspected pulmonary embolism in the emergency department.
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Berry, X; Oréfice, M; Jacquier, C; Saidi, R; Le Bougeant, P; Molinier, S; Morand, J J
2010-06-01
A French foreign legionnaire returning from Djibouti developed feverish polyarthritis with acral purpura. Diagnostic workup demonstrated gonococcemia contracted during unprotected fellatio. Based on this case report, diagnostic and therapeutic management is described.
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Thoracoabdominal Computed Tomography in Trauma Patients: A Cost-Consequences Analysis
van Vugt, Raoul; Kool, Digna R.; Brink, Monique; Dekker, Helena M.; Deunk, Jaap; Edwards, Michael J.
2014-01-01
Background: CT is increasingly used during the initial evaluation of blunt trauma patients. In this era of increasing cost-awareness, the pros and cons of CT have to be assessed. Objectives: This study was performed to evaluate cost-consequences of different diagnostic algorithms that use thoracoabdominal CT in primary evaluation of adult patients with high-energy blunt trauma. Materials and Methods: We compared three different algorithms in which CT was applied as an immediate diagnostic tool (rush CT), a diagnostic tool after limited conventional work-up (routine CT), and a selective tool (selective CT). Probabilities of detecting and missing clinically relevant injuries were retrospectively derived. We collected data on radiation exposure and performed a micro-cost analysis on a reference case-based approach. Results: Both rush and routine CT detected all thoracoabdominal injuries in 99.1% of the patients during primary evaluation (n = 1040). Selective CT missed one or more diagnoses in 11% of the patients in which a change of treatment was necessary in 4.8%. Rush CT algorithm costed € 2676 (US$ 3660) per patient with a mean radiation dose of 26.40 mSv per patient. Routine CT costed € 2815 (US$ 3850) and resulted in the same radiation exposure. Selective CT resulted in less radiation dose (23.23 mSv) and costed € 2771 (US$ 3790). Conclusions: Rush CT seems to result in the least costs and is comparable in terms of radiation dose exposure and diagnostic certainty with routine CT after a limited conventional work-up. However, selective CT results in less radiation dose exposure but a slightly higher cost and less certainty. PMID:25337521
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Duez, Lene; Beniczky, Sándor; Tankisi, Hatice; Hansen, Peter Orm; Sidenius, Per; Sabers, Anne; Fuglsang-Frederiksen, Anders
2016-10-01
To elucidate the possible additional diagnostic yield of MEG in the workup of patients with suspected epilepsy, where repeated EEGs, including sleep-recordings failed to identify abnormalities. Fifty-two consecutive patients with clinical suspicion of epilepsy and at least three normal EEGs, including sleep-EEG, were prospectively analyzed. The reference standard was inferred from the diagnosis obtained from the medical charts, after at least one-year follow-up. MEG (306-channel, whole-head) and simultaneous EEG (MEG-EEG) was recorded for one hour. The added sensitivity of MEG was calculated from the cases where abnormalities were seen in MEG but not EEG. Twenty-two patients had the diagnosis epilepsy according to the reference standard. MEG-EEG detected abnormalities, and supported the diagnosis in nine of the 22 patients with the diagnosis epilepsy at one-year follow-up. Sensitivity of MEG-EEG was 41%. The added sensitivity of MEG was 18%. MEG-EEG was normal in 28 of the 30 patients categorized as 'not epilepsy' at one year follow-up, yielding a specificity of 93%. MEG provides additional diagnostic information in patients suspected for epilepsy, where repeated EEG recordings fail to demonstrate abnormality. MEG should be included in the diagnostic workup of patients where the conventional, widely available methods are unrevealing. Copyright © 2016 International Federation of Clinical Neurophysiology. Published by Elsevier Ireland Ltd. All rights reserved.
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Slack, Jonathan C; Sanchez-Glanville, Carlos; Steele, MacGregor; Wong, Andrew L; Bründler, Marie-Anne
2018-05-01
Angiomatoid fibrous histiocytoma (AFH) is a rare soft tissue tumor that typically presents in children and young adults. Occurrence outside of the extremities and the head and neck region is exceedingly rare. We report the case of a 9-year-old boy who presented with recurrent retroperitoneal hemorrhage initially thought to be a manifestation of an underlying bleeding disorder. After comprehensive diagnostic work-up, including multiple negative biopsies, the patient underwent surgical resection of an extensively hemorrhagic intramuscular mass and to date remains well. Pathologic examination confirmed AFH with EWSR1 gene rearrangement. This first documented report of an AFH in a retroperitoneal location in a child highlights the diagnostic difficulties and clinical challenges of AFH arising in an atypical location.
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Kress, Inge Ulrike; Paslakis, Georgios; Erim, Yesim
2018-03-01
The present review investigates the prevalence and medical causes of food-related gastrointestinal symptoms in eating disorder (ED) patients and recommends a diagnostic algorithm based on the current literature. A literature search was conducted, which included publications from January 2000 until January 2017 Results: Over 90% of ED patients suffer from food-related symptoms. There is no evidence for a higher prevalence of immunological or structural gastrointestinal disorders in ED patients compared to the healthy population. Most food-related symptoms in ED patients are likely to be functional. Diagnostic work-up of food-related symptoms in ED patients needs to be based on clinical history. Only if timing and quality of symptoms point towards a disorder independent from the ED is a comprehensive diagnostic work-up necessary.
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van Ginkel, R; Büller, H A; Heymans, H S; Taminiau, J A; Boeckxstaens, G E; Benninga, M A
2003-06-28
A detailed medical history in combination with a thorough physical examination, including rectal examination, form the cornerstone in the diagnostic work-up for children with functional defecation disorders. Additional investigations are often not informative and have only minor diagnostic or therapeutic implications. Medical therapy in children with functional constipation and solitary encopresis is primarily based on clinical experience. In both patient groups, the role of education, the use of diary cards and toilet training is important. In some patients behaviour interventions are important. Oral laxatives are the basis of treatment of children with functional constipation, whereas they are contra-indicated in children with solitary encopresis. In both groups, biofeedback training appears to be of little additional benefit. Long-term follow-up of children with functional defecation disorders shows that complaints continue far beyond puberty in many children.
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Rizos, Timolaos; Quilitzsch, Anika; Busse, Otto; Haeusler, Karl Georg; Endres, Matthias; Heuschmann, Peter; Veltkamp, Roland
2015-06-01
Multiple methods to detect paroxysmal atrial fibrillation (pAF) in patients with acute stroke are available. However, it is unknown which approaches are currently used in clinical routine and guidelines remain vague to the extent of cardiac monitoring. We characterize diagnostic efforts for pAF detection on German stroke units (SU). A standardized anonymous questionnaire was sent to all clinical leads of certified SUs in Germany. The questionnaire focused on basic characteristics of SUs, procedures to detect AF, and estimates on AF detection. One hundred seventy-nine SU leads participated (response rate 71.6%). All patients undergo continuous bedside ECG monitoring. A percentage of 77.6 SUs initiate additional 24-hour Holter ECG in >50% of patients without known AF. Patients with transient ischemic attack are monitored significantly shorter than patients with ischemic stroke. Independent of SU type or size, 67.6% of leads assumed to fail detecting pAF in 5% to 20% of patients. In cryptogenic stroke, additional ECG monitoring is recommended by 90.2% but only 13.8% of SUs perform routine ECG follow-up visits. The use of implanted event recorders is low (1-10 patients/y by 60.7% of SUs; 28.1%: no use). A percentage of 83.9 do not use external event recorders. Our survey demonstrates substantial heterogeneity among German SUs on diagnostic work-up for pAF. Future prospective multicenter studies should systematically evaluate the impact of different methods to uncover pAF. © 2015 American Heart Association, Inc.
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Recurrent Pneumonia in Children: A Reasoned Diagnostic Approach and a Single Centre Experience.
Montella, Silvia; Corcione, Adele; Santamaria, Francesca
2017-01-29
Recurrent pneumonia (RP), i.e., at least two episodes of pneumonia in one year or three episodes ever with intercritical radiographic clearing of densities, occurs in 7.7%-9% of children with community-acquired pneumonia. In RP, the challenge is to discriminate between children with self-limiting or minor problems, that do not require a diagnostic work-up, and those with an underlying disease. The aim of the current review is to discuss a reasoned diagnostic approach to RP in childhood. Particular emphasis has been placed on which children should undergo a diagnostic work-up and which tests should be performed. A pediatric case series is also presented, in order to document a single centre experience of RP. A management algorithm for the approach to children with RP, based on the evidence from a literature review, is proposed. Like all algorithms, it is not meant to replace clinical judgment, but it should drive physicians to adopt a systematic approach to pediatric RP and provide a useful guide to the clinician.
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The added clinical and economic value of diagnostic testing for epilepsy surgery.
Hinde, Sebastian; Soares, Marta; Burch, Jane; Marson, Anthony; Woolacott, Nerys; Palmer, Stephen
2014-05-01
The costs, benefits and risks associated with diagnostic imaging investigations for epilepsy surgery necessitate the identification of an optimal pathway in the pre-surgical workup. In order to assess the added value of additional investigations a full cost-effectiveness evaluation should be conducted, taking into account all of the life-time costs and benefits associated with undertaking additional investigations. This paper considers and applies the appropriate framework against which a full evaluation should be assessed. We conducted a systematic review to evaluate the progression of the literature through this framework, finding that only isolated elements of added value have been appropriately evaluated. The results from applying the full added value framework are also presented, identifying an optimal strategy for pre-surgical evaluation for temporal lobe epilepsy surgery. Our results suggest that additional FDG-PET and invasive EEG investigations after an initially discordant MRI and video-EEG appears cost-effective, and that the value of subsequent invasive-EEGs is closely linked to the maintenance of longer-term benefits after surgery. It is integral to the evaluation of imaging technologies in the work-up for epilepsy surgery that the impact of the use of these technologies on clinical decision-making, and on further treatment decisions, is considered fully when informing cost-effectiveness. Copyright © 2014 The Authors. Published by Elsevier B.V. All rights reserved.
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Diagnostic workup for ARDS patients.
Papazian, Laurent; Calfee, Carolyn S; Chiumello, Davide; Luyt, Charles-Edouard; Meyer, Nuala J; Sekiguchi, Hiroshi; Matthay, Michael A; Meduri, Gianfranco Umberto
2016-05-01
Acute respiratory distress syndrome (ARDS) is defined by the association of bilateral infiltrates and hypoxaemia following an initial insult. Although a new definition has been recently proposed (Berlin definition), there are various forms of ARDS with potential differences regarding their management (ventilator settings, prone positioning use, corticosteroids). ARDS can be caused by various aetiologies, and the adequate treatment of the responsible cause is crucial to improve the outcome. It is of paramount importance to characterize the mechanisms causing lung injury to optimize both the aetiological treatment and the symptomatic treatment. If there is no obvious cause of ARDS or if a direct lung injury is suspected, bronchoalveolar lavage (BAL) should be strongly considered to identify microorganisms responsible for pneumonia. Blood samples can also help to identify microorganisms and to evaluate biomarkers of infection. If there is no infectious cause of ARDS or no other apparent aetiology is found, second-line examinations should include markers of immunologic diseases. In selected cases, open lung biopsy remains useful to identify the cause of ARDS when all other examinations remain inconclusive. CT scan is fundamental when there is a suspicion of intra-abdominal sepsis and in some cases of pneumonia. Ultrasonography is important not only in evaluating biventricular function but also in identifying pleural effusions and pneumothorax. The definition of ARDS remains clinical and the main objective of the diagnostic workup should be to be focused on identification of its aetiology, especially a treatable infection.
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Braun, M; Ploner, C J; Lindner, T; Möckel, M; Schmidt, W U
2017-06-01
Coma of unknown origin (CUO) is a frequent unspecific emergency symptom associated with a high mortality. A fast diagnostic work-up is essential given the wide spectrum of underlying diagnoses that are made up of approximately 50% primary central nervous system (CNS) pathologies and approximately 50% extracerebral, almost exclusively internal medical causes. Despite the high mortality associated with this symptom, there are currently no generally accepted management guidelines for adult patients presenting with CUO. We propose an interdisciplinary standard operating procedure (SOP) for patients with acute CUO as has been established in our maximum care hospital. The SOP is triggered by simple triage criteria that are sufficient to identify CUO patients before arrival in hospital. The in-hospital response team is led by a neurologist. Collaboration with nursing staff, internal medicine, anesthesiology, neurosurgery and trauma surgery is organized along structured pathways that include standardized laboratory tests, including cerebrospinal fluid (CSF), toxicology, computed tomography (CT) and CT angiography imaging (CTA). Our data suggest that neurologists and internists need to be placed at the beginning of the diagnostic work-up. Imaging should not just be carried out depending on the clinical syndrome because sensitivity, specificity and inter-rater reliability of the latter are not sufficient and because in many cases, multiple pathologies can be detected that could each explain CUO alone. Clinical examination, imaging and laboratory testing should be regarded as components of an integrative diagnostic approach and the final aetiological classification should only be made after the diagnostic work-up is complete.
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Thyssen, J P; Menné, T; Schalock, P C; Taylor, J S; Maibach, H I
2011-03-01
Allergic complications following insertion of metallic orthopaedic implants include allergic dermatitis reactions but also extracutaneous complications. As metal-allergic patients and/or surgeons may ask dermatologists and allergologists for advice prior to planned orthopaedic implant surgery, and as surgeons may refer patients with complications following total joint arthroplasty for diagnostic work-up, there is a continuous need for updated guidelines. This review presents published evidence for patch testing prior to surgery and proposes tentative diagnostic criteria which clinicians can rely on in the work-up of patients with putative allergic complications following surgery. Few studies have investigated whether subjects with metal contact allergy have increased risk of developing complications following orthopaedic implant insertion. Metal allergy might in a minority increase the risk of complications caused by a delayed-type hypersensitivity reaction. At present, we do not know how to identify the subgroups of metal contact allergic patients with a potentially increased risk of complications following insertion of a metal implant. We recommend that clinicians should refrain from routine patch testing prior to surgery unless the patient has already had implant surgery with complications suspected to be allergic or has a history of clinical metal intolerance of sufficient magnitude to be of concern to the patient or a health provider. The clinical work-up of a patient suspected of having an allergic reaction to a metal implant should include patch testing and possibly in vitro testing. We propose diagnostic criteria for allergic dermatitis reactions as well as noneczematous complications caused by metal implants. © 2011 The Authors. BJD © 2011 British Association of Dermatologists.
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Full-course drug challenge test in the diagnosis of delayed allergic reactions to penicillin.
Borch, Jakob E; Bindslev-Jensen, Carsten
2011-01-01
Drug challenge test (DCT) has long been the most sensitive test in the allergological work-up when investigating for penicillin allergy. To improve sensitivity of the diagnostic work-up in diagnosing penicillin allergics with histories of allergic reactions on day 2 or later in the course of penicillin treatment. A full-course DCT was added to the current protocol if specific IgE, skin tests and DCT were all negative in patients who had a nonimmediate reaction to penicillin treatment. Sixteen patients with a history of an immediate reaction to penicillin treatment underwent testing with negative outcomes. Fifty percent of patients undergoing full-course DCT experienced a cutaneous adverse drug reaction. None of the controls reacted (p = 0.001). The mean time of reaction was 6 days. Penicillin V accounted for most reactions. Urticaria was the most frequent clinical reaction observed. Full-course DCT offers an improvement of sensitivity and predictive values of the diagnostic work-up of allergic reactions to penicillin occurring on day 2 of penicillin treatment or later. Copyright © 2011 S. Karger AG, Basel.
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Moreno, Courtney C; Mittal, Pardeep K; Sullivan, Patrick S; Rutherford, Robin; Staley, Charles A; Cardona, Kenneth; Hawk, Natalyn N; Dixon, W Thomas; Kitajima, Hiroumi D; Kang, Jian; Small, William C; Oshinski, John; Votaw, John R
2016-03-01
Rates of colorectal cancer screening are improving but remain suboptimal. Limited information is available regarding how patients are diagnosed with colorectal cancer (for example, asymptomatic screened patients or diagnostic workup because of the presence of symptoms). The purpose of this investigation was to determine how patients were diagnosed with colorectal cancer (screening colonoscopy, diagnostic colonoscopy, or emergent surgery) and tumor stage and size at diagnosis. Adults evaluated between 2011 and 2014 with a diagnosis of colorectal cancer were identified. Clinical notes, endoscopy reports, surgical reports, radiology reports, and pathology reports were reviewed. Sex, race, ethnicity, age at the time of initial diagnosis, method of diagnosis, presenting symptom(s), and primary tumor size and stage at diagnosis were recorded. Colorectal cancer screening history was also recorded. The study population was 54% male (265 of 492) with a mean age of 58.9 years (range, 25-93 years). Initial tissue diagnosis was established at the time of screening colonoscopy in 10.7%, diagnostic colonoscopy in 79.2%, and during emergent surgery in 7.1%. Cancers diagnosed at the time of screening colonoscopy were more likely to be stage 1 than cancers diagnosed at the time of diagnostic colonoscopy or emergent surgery (38.5%, 7.2%, and 0%, respectively). Median tumor size was 3.0 cm for the screening colonoscopy group, 4.6 cm for the diagnostic colonoscopy group, and 5.0 cm for the emergent surgery group. At least 31% of patients diagnosed at the time of screening colonoscopy, 19% of patients diagnosed at the time of diagnostic colonoscopy, and 26% of patients diagnosed at the time of emergent surgery had never undergone a screening colonoscopy. Nearly 90% of colorectal cancer patients were diagnosed after development of symptoms and had more advanced disease than asymptomatic screening patients. Colorectal cancer outcomes will be improved by improving rates of colorectal cancer screening. Copyright © 2016 Elsevier Inc. All rights reserved.
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Chronic pancreatitis: A diagnostic dilemma
Duggan, Sinead N; Ní Chonchubhair, Hazel M; Lawal, Oladapo; O’Connor, Donal B; Conlon, Kevin C
2016-01-01
Typical clinical symptoms of chronic pancreatitis are vague and non-specific and therefore diagnostic tests are required, none of which provide absolute diagnostic certainly, especially in the early stages of disease. Recently-published guidelines bring much needed structure to the diagnostic work-up of patients with suspected chronic pancreatitis. In addition, novel diagnostic modalities bring promise for the future. The assessment and diagnosis of pancreatic exocrine insufficiency remains challenging and this review contests the accepted perspective that steatorrhea only occurs with > 90% destruction of the gland. PMID:26900292
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Evans, William R. H.; Hendriksz, Chris J.
2017-01-01
Niemann–Pick type C (NP-C) disease is a rare neurodegenerative lysosomal storage disorder. It is highly heterogeneous, and there is limited awareness of a substantial subgroup that has an attenuated adolescent/adult-onset disease. In these patients psychiatric features, often a psychosis, may dominate the initial impression, although often there is an associated ataxia and cognitive impairment. Typically, patients experience a substantial diagnostic delay. In this review we highlight the importance of early recognition and discuss the pathophysiology, neuropsychiatric presentation and recent changes in the investigation and work-up of these patients, and treatment options. PMID:28400970
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Multidetector Computer Tomography: Evaluation of Blunt Chest Trauma in Adults
Matos, António P.; Mascarenhas, Vasco; Herédia, Vasco
2014-01-01
Imaging plays an essential part of chest trauma care. By definition, the employed imaging technique in the emergency setting should reach the correct diagnosis as fast as possible. In severe chest blunt trauma, multidetector computer tomography (MDCT) has become part of the initial workup, mainly due to its high sensitivity and diagnostic accuracy of the technique for the detection and characterization of thoracic injuries and also due to its wide availability in tertiary care centers. The aim of this paper is to review and illustrate a spectrum of characteristic MDCT findings of blunt traumatic injuries of the chest including the lungs, mediastinum, pleural space, and chest wall. PMID:25295188
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Multidetector computer tomography: evaluation of blunt chest trauma in adults.
Palas, João; Matos, António P; Mascarenhas, Vasco; Herédia, Vasco; Ramalho, Miguel
2014-01-01
Imaging plays an essential part of chest trauma care. By definition, the employed imaging technique in the emergency setting should reach the correct diagnosis as fast as possible. In severe chest blunt trauma, multidetector computer tomography (MDCT) has become part of the initial workup, mainly due to its high sensitivity and diagnostic accuracy of the technique for the detection and characterization of thoracic injuries and also due to its wide availability in tertiary care centers. The aim of this paper is to review and illustrate a spectrum of characteristic MDCT findings of blunt traumatic injuries of the chest including the lungs, mediastinum, pleural space, and chest wall.
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van Ginkel, Joost H; van den Broek, Daan A; van Kuik, Joyce; Linders, Dorothé; de Weger, Roel; Willems, Stefan M; Huibers, Manon M H
2017-10-01
In current molecular cancer diagnostics, using blood samples of cancer patients for the detection of genetic alterations in plasma (cell-free) circulating tumor DNA (ctDNA) is an emerging practice. Since ctDNA levels in blood are low, highly sensitive Droplet Digital PCR (ddPCR) can be used for detecting rare mutational targets. In order to perform ddPCR on blood samples, a standardized procedure for processing and analyzing blood samples is necessary to facilitate implementation into clinical practice. Therefore, we assessed the technical sample workup procedure for ddPCR on blood plasma samples. Blood samples from healthy individuals, as well as lung cancer patients were analyzed. We compared different methods and protocols for sample collection, storage, centrifugation, isolation, and quantification. Cell-free DNA (cfDNA) concentrations of several wild-type targets and BRAF and EGFR-mutant ctDNA concentrations quantified by ddPCR were primary outcome measurements. Highest cfDNA concentrations were measured in blood collected in serum tubes. No significant differences in cfDNA concentrations were detected between various time points of up to 24 h until centrifugation. Highest cfDNA concentrations were detected after DNA isolation with the Quick cfDNA Serum & Plasma Kit, while plasma isolation using the QIAamp Circulating Nucleic Acid Kit yielded the most consistent results. DdPCR results on cfDNA are highly dependent on multiple factors during preanalytical sample workup, which need to be addressed during the development of this diagnostic tool for cancer diagnostics in the future. © 2017 The Authors. Cancer Medicine published by John Wiley & Sons Ltd.
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A novel approach to cardiac troponins to improve the diagnostic work-up in chest pain patients.
Eggers, Kai M; Jaffe, Allan S; Svennblad, Bodil; Lindahl, Bertil
2012-12-01
In patients with acute chest pain, current guidelines recommend serial measurements of cardiac troponins at predefined and partly late time points. Consequently, diagnostic assessment in these patients tends to be lengthy and often results in unnecessary admissions. We, therefore, evaluated whether an approach integrating troponin results into the clinical context provided by the individual patient's presentation might facilitate the early diagnostic work-up. In 197 chest pain patients, cardiac troponin I (cTnI; Stratus CS) was measured serially within 12 hours after hospital admission. In patient cohorts with different chances of having myocardial infarction (MI) according to clinical data, electrocardiographic findings, and admission biomarker results, pretest probabilities for MI were calculated and compared with posttest probabilities derived from subsequent cTnI results after admission. Elevated cTnI levels at 1 to 2 hours after admission revealed ≥95.0% posttest probabilities for MI in cohorts with intermediate or high chances of having MI. The posttest probabilities for the absence of MI were 94.7% to 98.2% in cohorts with low or intermediate chances of having MI when cTnI was negative at 2 hours. Troponin testing considering the individual patient's pretest probability of MI seems, in conclusion, to provide clinically useful information already 1 to 2 hours after admission. Such an approach has the potential to identify both patient cohorts in whom early discharge or admittance for further evaluation would be appropriate. This could facilitate the early diagnostic work-up of chest pain patients, thereby improving patient flow and reducing overcrowding in healthcare facilities.
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... Mutation Mycophenolic Acid Mycoplasma Myoglobin Nicotine and Cotinine Non-High Density Lipoprotein Cholesterol Opioid Testing Osmolality Ova ... that make neuropathy worse Detect and evaluate complications Non-laboratory tests The diagnostic workup for neuropathy begins ...
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Diagnostic Imaging and workup of Malignant Pleural Mesothelioma.
Cardinale, Luciano; Ardissone, Francesco; Gned, Dario; Sverzellati, Nicola; Piacibello, Edoardo; Veltri, Andrea
2017-08-23
Malignant pleural mesothelioma is the most frequent primary neoplasm of the pleura and its incidence is still increasing.This tumor has a strong association with exposure to occupational or environmental asbestos, often after a long latent period of 30-40 years.Plain chest radiography (CXR) is usually the first-line radiologic examination, but the radiographic findings are nonspecific due to its limited contrast resolution and they need to be complemented by other imaging modalities such as computed tomography (CT), magnetic resonance Imaging (MRI), Positron emission tomography-computed tomography (PET-CT) and ultrasound (US).The aim of this paper is to describe the imaging features of this malignancy, underlining the peculiarity of CXR, CT, MRI, PET-CT and US and also focusing on diagnostic workup, based on the literature evidence and according to our experience.
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Cunha, Burke A; Petelin, Andrew; George, Sonia
2013-01-01
We describe fever of unknown origin (FUO) in a 57-year-old woman with hepatosplenomegaly. The diagnostic workup was directed at diagnosing a lymphoma. Her history of travel and exposures to food and water did not make typhoid fever a likely diagnostic possibility. Because she presented with prolonged fevers, fatigue, anorexia, weight loss, and night sweats with hepatosplenomegaly, lymphoma was likely. Initially, Epstein-Barr virus (EBV) was not considered because of her age, the absence of pharyngitis and cervical adenopathy, and the higher likelihood of another diagnosis, ie, lymphoma. Eventually, her FUO was diagnosed as EBV presenting as "typhoidal mononucleosis." Typhoidal mononucleosis is an extremely rare presentation of EBV as a cause of FUO in an adult. All of her symptoms as well as her clinical and laboratory findings resolved spontaneously. Copyright © 2013 Elsevier Inc. All rights reserved.
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Vadi, Shelvin Kumar; Singh, Baljinder; Basher, Rajender K; Watts, Ankit; Sood, Ashwani K; Lal, Anupam; Kakkar, Nandita; Singh, S K
2017-08-01
The aim of this study was to compare the diagnostic performance of F-fluorocholine (FCH) PET/CT and dynamic contrast-enhanced MRI (DCE-MRI) of pelvis in restaging prostate cancer (PC) patients with biochemical recurrence (BCR) following radical prostatectomy (RP). Twenty PC patients who had undergone RP and had BCR were recruited in this study. All the patients underwent whole-body FCH PET/CT and DCE-MRI of the pelvis. An overall pattern of recurrent disease was analyzed, and diagnostic accuracy for the detection of pelvic disease recurrence by the 2 modalities was evaluated by taking histopathologic analysis as the criterion standard. The whole-body FCH PET/CT images were also analyzed separately for the presence of any extra lesion(s). The initial mean Gleason score was 6.3 ± 1.53 (range, 4-9). The mean prostate-specific antigen levels at the time of relapse were 1.9 ± 2.87 ng/mL (range, 0.24-13.2 ng/mL). MRI findings were positive for primary tumor recurrence in the prostate bed in 6 patients (6/20 [30.0%]), pelvic lymph node metastases in 4 patients (4/20 [20.0%]), and for pelvic skeletal metastases in 2 patients (2/20 [10.0%]), respectively. On the other hand, FCH PET/CT results were positive in the corresponding sites in 7 (7/20 [35.0%]), 9 (9/20 [45.0%]), and 2 patients (2/20 [10.0%]), respectively. F-fluorocholine PET/CT and MRI showed comparable results in terms of sensitivity, specificity, and positive and negative predictive values for PC characterization. The whole-body FCH PET/CT was found to be useful in identifying unknown distant metastases in a significant proportion of patients. The correlative whole-body FCH PET/CT and pelvic DCE-MRI offer a complementary and comprehensive diagnostic workup for better management of PC patients with BCR following RP.
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Kip, Michelle Ma; Schop, Annemarie; Stouten, Karlijn; Dekker, Soraya; Dinant, Geert-Jan; Koffijberg, Hendrik; Bindels, Patrick Je; IJzerman, Maarten J; Levin, Mark-David; Kusters, Ron
2018-01-01
Background Establishing the underlying cause of anaemia in general practice is a diagnostic challenge. Currently, general practitioners individually determine which laboratory tests to request (routine work-up) in order to diagnose the underlying cause. However, an extensive work-up (consisting of 14 tests) increases the proportion of patients correctly diagnosed. This study investigates the cost-effectiveness of this extensive work-up. Methods A decision-analytic model was developed, incorporating all societal costs from the moment a patient presents to a general practitioner with symptoms suggestive of anaemia (aged ≥ 50 years), until the patient was (correctly) diagnosed and treated in primary care, or referred to (and diagnosed in) secondary care. Model inputs were derived from an online survey among general practitioners, expert estimates and published data. The primary outcome measure was expressed as incremental cost per additional patient diagnosed with the correct underlying cause of anaemia in either work-up. Results The probability of general practitioners diagnosing the correct underlying cause increased from 49.6% (95% CI: 44.8% to 54.5%) in the routine work-up to 56.0% (95% CI: 51.2% to 60.8%) in the extensive work-up (i.e. +6.4% [95% CI: -0.6% to 13.1%]). Costs are expected to increase slightly from €842/patient (95% CI: €704 to €994) to €845/patient (95% CI: €711 to €994), i.e. +€3/patient (95% CI: €-35 to €40) in the extensive work-up, indicating incremental costs of €43 per additional patient correctly diagnosed. Conclusions The extensive laboratory work-up is more effective for diagnosing the underlying cause of anaemia by general practitioners, at a minimal increase in costs. As accompanying benefits in terms of quality of life and reduced productivity losses could not be captured in this analysis, the extensive work-up is likely cost-effective.
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Stahl, Stephane; Hentschel, Pascal; Ketelsen, Dominik; Grosse, Ulrich; Held, Manuel; Wahler, Theodora; Syha, Roland; Schaller, Hans-Eberhard; Nikolaou, Konstantin; Grözinger, Gerd
2017-05-01
This prospective clinical study examined standard wrist magnetic resonance imaging (MRI) examinations and the incremental value of computed tomography (CT) in the diagnosis of Kienböck's disease (KD) with regard to reliability and precision in the different diagnostic steps during diagnostic work-up. Sixty-four consecutive patients referred between January 2009 and January 2014 with positive initial suspicion of KD according to external standard wrist MRI were prospectively included (step one). Institutional review board approval was obtained. Clinical examination by two handsurgeons were followed by wrist radiographs (step two), ultrathin-section CT, and 3T contrast-enhanced MRI (step three). Final diagnosis was established in a consensus conference involving all examiners and all examinations results available from step three. In 12/64 patients, initial suspicion was discarded at step two and in 34/64 patients, the initial suspicion of KD was finally discarded at step three. The final external MRI positive predictive value was 47%. The most common differential diagnoses at step three were intraosseous cysts (n=15), lunate pseudarthrosis (n=13), and ulnar impaction syndrome (n=5). A correlation between radiograph-based diagnoses (step two) with final diagnosis (step three) showed that initial suspicion of stage I KD had the lowest sensitivity for correct diagnosis (2/11). Technical factors associated with a false positive external MRI KD diagnosis were not found. Standard wrist MRI should be complemented with thin-section CT, and interdisciplinary interpretation of images and clinical data, to increase diagnostic accuracy in patients with suspected KD. Copyright © 2017. Published by Elsevier B.V.
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Allergic- and immunologic-mediated diseases of the eye and adnexae.
Bistner, S
1994-07-01
Significant allergic- and immunologic-mediated diseases of the eye are reviewed. Included are diseases of the lacrimal gland namely keratoconjunctivitis sicca, immune-mediated diseases of the conjunctiva, atopic blepharoconjunctivitis, and marginal blepharitis, uveitis including lens-induced uveitis, episcleritis, orbital cellulitis, and optic neuritis. Significant diagnostic features, an approach to diagnostic workup, and treatment are presented.
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Acute Pancreatitis Etiology Investigation: A Workup Algorithm Proposal
da Silva, Sílvia; Rocha, Mónica; Pinto-de-Sousa, João
2017-01-01
Background Acute pancreatitis represents a significant number of hospital admissions. Most of the patients are admitted in an acute setting. Early identification of its etiology is an essential step toward the rational approach, both for its implications in the immediate therapy and the prevention of recurrence. Although often obvious, the etiological workup of acute pancreatitis can be challenging. Conclusion There are several studies emphasizing the multiple etiologies underlying acute pancreatitis but lacking structured diagnostic workups to allow a rational and organized study. The main goal of this work is to develop an algorithm proposal, which aims to serve as a guide for the investigation of the etiology of acute pancreatitis based on a review of already published literature, adjusted to the reality of our hospital and the available resources. PMID:28848797
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Payne, Isaac; Grimm, Leander M.
2017-01-01
Paradoxical puborectalis contraction (PPC) and increased perineal descent (IPD) are subclasses of obstructive defecation. Often these conditions coexist, which can make the evaluation, workup, and treatment difficult. After a thorough history and examination, workup begins with utilization of proven diagnostic modalities such as cinedefecography and anal manometry. Advancements in technology have increased the surgeon's diagnostic armamentarium. Biofeedback and pelvic floor therapy have proven efficacy for both conditions as first-line treatment. In circumstances where PPC is refractory to biofeedback therapy, botulinum toxin injection is recommended. Historically, pelvic floor repair has been met with suboptimal results. In IPD, surgical therapy now is directed toward the potentially attendant abnormalities such as rectoanal intussusception and rectal prolapse. When these associated abnormalities are not present, an ostomy should be considered in patients with IPD as well as medically refractory PPC. PMID:28144209
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Dale, Einar; Moan, Jon M; Osnes, Terje A; Bogsrud, Trond V
2017-02-01
FDG PET/CT is perceived as a valuable diagnostic tool in addition to the standard diagnostic workup for patients with isolated neck lymph nodes of squamous cell carcinoma of unknown primary (SCCUP). For patients with SCCUP intended for primary radiotherapy, we hypothesize that the previously reported FDG PET/CT detection rates are too high. From 2008 to 2015, 30 SCCUP patients were examined with FDG PET/CT. The objective of the FDG PET/CT examination was twofold: (1) improve the radiotherapy target definition, and (2) identify the primary cancer. Before the FDG PET/CT, the patients had been through a standard workup consisting of CT of the neck and chest, examination with flexible endoscopy with patient awake, panendoscopy and examination under general anesthesia, tonsillectomy and sometimes blind sampling biopsies, and MRI (floor of the mouth). All FDG PET/CTs were performed applying a flat table, head support and fixation mask as part of the radiotherapy treatment planning. Diagnostic CT with contrast was an integrated part of the PET/CT examination. Only 1/30 patients (cancer of the vallecula) had their primary cancer detected by FDG PET/CT. In addition, a non-biopsied patient with high uptake in the ipsilateral palatine tonsil was included, giving a detection rate of ≤7 % (95 % CI 2-21 %). In this retrospective study, we found that the FDG PET/CT detection rate of the primary for SCCUP patients is lower than previously reported. It is questionable whether FDG PET/CT is necessary for these patients when improved, advanced workup is available.
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Activating MAPK1 (ERK2) mutation in an aggressive case of disseminated juvenile xanthogranuloma
Chakraborty, Rikhia; Hampton, Oliver A.; Abhyankar, Harshal; Zinn, Daniel J.; Grimes, Amanda; Skull, Brooks; Eckstein, Olive; Mahmood, Nadia; Wheeler, David A.; Lopez-Terrada, Dolores; Peters, Tricia L.; Hicks, John M.; Elghetany, Tarek; Krance, Robert; Poulikakos, Poulikos I.; Merad, Miriam; McClain, Kenneth L.; Allen, Carl E.; Parsons, Donald W.
2017-01-01
Juvenile xanthogranuloma (JXG) is a rare histiocytic disorder that is usually benign and self-limiting. We present a case of atypical, aggressive JXG harboring a novel mitogen-activated protein kinase (MAPK) pathway mutation in the MAPK1 gene, which encodes mitogen-activated protein kinase 1 or extracellular signal-regulated 2 (ERK2). Our analysis revealed that the mutation results in constitutive ERK activation that is resistant to BRAF or MEK inhibitors but susceptible to an ERK inhibitor. These data highlight the importance of identifying specific MAPK pathway alterations as part of the diagnostic workup for patients with histiocytic disorders rather than initiating empiric treatment with MEK inhibitors. PMID:28512266
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[Approach to syncope in the elderly].
Erdoğan, Okan
2017-09-01
Elderly syncope currently accounts a substantial number of emergency admissions. Unfortunately, in elderly syncope we are faced with major difficulties while providing diagnostic and therapeutic decisions. It is quite necessary to distinguish between syncope and non-syncopal causes which create further difficulties during diagnostic work-up because of co-morbid conditions and poly-pharmacy used by the elderly. The present article aims to describe causes of elderly syncope and its differential diagnosis as well as tips and tricks during diagnostic process.
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Trade-offs in Cervical Cancer Prevention: Balancing Benefits and Risks
Stout, Natasha K.; Goldhaber-Fiebert, Jeremy D.; Ortendahl, Jesse D.; Goldie, Sue J.
2009-01-01
Background New screening and vaccination technologies will provide women with more options for cervical cancer prevention. Because the risk of cervical cancer diminishes with effective routine screening, women may wish to consider additional attributes, such as the likelihood of false-positive results and diagnostic procedures for mild abnormalities likely to resolve without intervention in their screening choices. Methods We used an empirically calibrated simulation model of cervical cancer in the United States to assess the benefits and potential risks associated with prevention strategies differing by primary screening test, triage test for abnormal results (cytologic testing, human papillomavirus [HPV] DNA test), and screening frequency. Outcomes included colposcopy referrals, cervical intraepithelial neoplasia (CIN) types 1 and 2 or 3, lifetime cancer risk, and quality-adjusted life expectancy. Results Across strategies, colposcopy referrals and diagnostic workups varied 3-fold, although diagnostic rates of CIN 2 or 3 were similar and 95% of positive screening test results were for mild abnormalities likely to resolve on their own. For a representative group of a thousand 20-year-old women undergoing triennial screening for 10 years, we expect 1038 colposcopy referrals (7 CIN 2 or 3 diagnoses) from combined cytologic and HPV DNA testing and fewer than 200 referrals (6–7 CIN 2 or 3 diagnoses) for strategies that use triage testing. Similarly, for a thousand 40-year-old women, combined cytologic and HPV DNA testing led to 489 referrals (9 CIN 2 or 3), whereas alternative strategies resulted in fewer than 150 referrals (7–8 CIN 2 or 3). Using cytologic testing followed by triage testing in younger women minimizes both diagnostic workups and positive HPV test results, whereas in older women diagnostic workups are minimized with HPV DNA testing followed by cytologic triage testing. Conclusions Clinically relevant information highlighting trade-offs among cervical cancer prevention strategies allows for inclusion of personal preferences into women’s decision making about screening and provides additional dimensions to the construction of clinical guidelines. PMID:18809815
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Haeusler, Karl Georg; Wollboldt, Christian; Bentheim, Laura Zu; Herm, Juliane; Jäger, Sebastian; Kunze, Claudia; Eberle, Holger-Carsten; Deluigi, Claudia Christina; Bruder, Oliver; Malsch, Carolin; Heuschmann, Peter U; Endres, Matthias; Audebert, Heinrich J; Morguet, Andreas J; Jensen, Christoph; Fiebach, Jochen B
2017-05-01
Etiology of acute ischemic stroke remains undetermined (cryptogenic) in about 25% of patients after state-of-the-art diagnostic work-up. One-hundred and three patients with magnetic resonance imaging (MRI)-proven acute ischemic stroke of undetermined origin were prospectively enrolled and underwent 3-T cardiac MRI and magnetic resonance angiography of the aortic arch in addition to state-of-the-art diagnostic work-up, including transesophageal echocardiography (TEE). We analyzed the feasibility, diagnostic accuracy, and added value of cardiovascular MRI (cvMRI) compared with TEE for detecting sources of stroke. Overall, 102 (99.0%) ischemic stroke patients (median 63 years [interquartile range, 53-72], 24% female, median NIHSS (National Institutes of Health Stroke Scale) score on admission 2 [interquartile range, 1-4]) underwent cvMRI and TEE in hospital; 89 (86.4%) patients completed the cvMRI examination. In 93 cryptogenic stroke patients, a high-risk embolic source was found in 9 (8.7%) patients by cvMRI and in 11 (11.8%) patients by echocardiography, respectively. cvMRI and echocardiography findings were consistent in 80 (86.0%) patients, resulting in a degree of agreement of κ=0.24. In 82 patients with cryptogenic stroke according to routine work-up, including TEE, cvMRI identified stroke etiology in additional 5 (6.1%) patients. Late gadolinium enhancement consistent with previous myocardial infarction was found in 13 (14.6%) out of 89 stroke patients completing cvMRI. Only 2 of these 13 patients had known coronary artery disease. Our study demonstrated that cvMRI was feasible in the vast majority of included patients with acute ischemic stroke. The diagnostic information of cvMRI seems to be complementary to TEE but is not replacing echocardiography after acute ischemic stroke. URL: http://www.clinicaltrials.gov. Unique identifier: NCT01917955. © 2017 American Heart Association, Inc.
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Horbach, Sophie E R; Utami, Amalia M; Meijer-Jorna, Lorine B; Sillevis Smitt, J H; Spuls, Phyllis I; van der Horst, Chantal M A M; van der Wal, Allard C
2017-11-01
Soft tissue vascular malformations are generally diagnosed clinically, according to the International Society for the Study of Vascular Anomalies (ISSVA) classification. Diagnostic histopathologic examination is rarely performed. We sought to evaluate the validity of the current diagnostic workup without routinely performed diagnostic histopathology. We retrospectively determined whether there were discrepancies between clinical and histopathologic diagnoses of patients with clinically diagnosed vascular malformations undergoing therapeutic surgical resections in our center (2000-2015). Beforehand, a pathologist revised the histopathologic diagnoses according to the ISSVA classification. Clinical and histopathologic diagnoses were discrepant in 57% of 142 cases. In these cases, the pathologist indicated the diagnosis was not at all a vascular malformation (n = 24; 17%), a completely different type of vascular malformation (n = 26; 18%), or a partially different type with regard to the combination of vessel-types involved (n = 31; 22%). Possible factors associated with the discrepancies were both clinician-related (eg, diagnostic uncertainty) and pathology-related (eg, lack of immunostaining). Retrospective analysis of a subgroup of patients undergoing surgery. The large discrepancy between clinical and histopathologic diagnoses raises doubt about the validity of the current diagnostic workup for vascular malformations. Clear clinical and histopathologic diagnostic criteria might be essential for a uniform diagnosis. Copyright © 2017 American Academy of Dermatology, Inc. Published by Elsevier Inc. All rights reserved.
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The diagnostic management of upper extremity deep vein thrombosis: A review of the literature.
Kraaijpoel, Noémie; van Es, Nick; Porreca, Ettore; Büller, Harry R; Di Nisio, Marcello
2017-08-01
Upper extremity deep vein thrombosis (UEDVT) accounts for 4% to 10% of all cases of deep vein thrombosis. UEDVT may present with localized pain, erythema, and swelling of the arm, but may also be detected incidentally by diagnostic imaging tests performed for other reasons. Prompt and accurate diagnosis is crucial to prevent pulmonary embolism and long-term complications as the post-thrombotic syndrome of the arm. Unlike the diagnostic management of deep vein thrombosis (DVT) of the lower extremities, which is well established, the work-up of patients with clinically suspected UEDVT remains uncertain with limited evidence from studies of small size and poor methodological quality. Currently, only one prospective study evaluated the use of an algorithm, similar to the one used for DVT of the lower extremities, for the diagnostic workup of clinically suspected UEDVT. The algorithm combined clinical probability assessment, D-dimer testing and ultrasonography and appeared to safely and effectively exclude UEDVT. However, before recommending its use in routine clinical practice, external validation of this strategy and improvements of the efficiency are needed, especially in high-risk subgroups in whom the performance of the algorithm appeared to be suboptimal, such as hospitalized or cancer patients. In this review, we critically assess the accuracy and efficacy of current diagnostic tools and provide clinical guidance for the diagnostic management of clinically suspected UEDVT. Copyright © 2017 Elsevier Ltd. All rights reserved.
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Creutzfeldt-Jakob Disease Presenting With Dizziness and Gaze-Evoked Nystagmus: A Case Report.
Choi, Yun-Ju; Kang, Kyung-Wook; Lee, Sae-Young; Kang, Seung-Ho; Lee, Seung-Han; Kim, Byeong C
2016-02-01
Sporadic Creutzfeldt-Jakob disease (CJD) is clinically characterized by rapidly progressive dementia combined with other cardinal symptoms, such as myoclonus, visual or cerebellar disturbances, extrapyramidal or pyramidal disturbance, and akinetic mutism. However, as an initial manifestation, focal neurologic deficits other than the aforementioned or nonspecific generalized symptoms may lead to a misdiagnosis or a delayed diagnosis. The authors report a case of 66-year-old male patient with sporadic CJD who had dizziness, gaze-evoked nystagmus (GEN), and other central eye signs (impaired smooth pursuit, saccadic dysmetria) as an initial manifestation without dementia. The central eye signs led us to perform brain magnetic resonance images, which showed abnormal cortical high-signal intensity in both the cerebral and cerebellar hemispheres including the vestibulocerebellum. We reached a presumptive diagnosis of CJD, but the findings did not meet diagnostic criteria for probable CJD at that time. Three weeks after the initial work-ups, the patient presented with typical neurological findings of CJD: rapidly progressive dementia, akinetic mutism, and myoclonus of the left arm. Cerebrospinal fluid was positive for 14-3-3 protein, and electroencephalography showed periodic sharp wave complexes. In this patient, GEN and other central eye signs provided diagnostic clues for CJD. These unusual neurological manifestations may help physicians have a thorough knowledge of early deficits of CJD.
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Plain abdominal radiography in acute abdominal pain; past, present, and future
Gans, Sarah L; Stoker, Jaap; Boermeester, Marja A
2012-01-01
Several studies have demonstrated that a diagnosis based solely on a patient’s medical history, physical examination, and laboratory tests is not reliable enough, despite the fact that these aspects are essential parts of the workup of a patient presenting with acute abdominal pain. Traditionally, imaging workup starts with abdominal radiography. However, numerous studies have demonstrated low sensitivity and accuracy for plain abdominal radiography in the evaluation of acute abdominal pain as well as various specific diseases such as perforated viscus, bowel obstruction, ingested foreign body, and ureteral stones. Computed tomography, and in particular computed tomography after negative ultrasonography, provides a better workup than plain abdominal radiography alone. The benefits of computed tomography lie in decision-making for management, planning of a surgical strategy, and possibly even avoidance of negative laparotomies. Based on abundant available evidence, major advances in diagnostic imaging, and changes in the management of certain diseases, we can conclude that there is no place for plain abdominal radiography in the workup of adult patients with acute abdominal pain presenting in the emergency department in current practice. PMID:22807640
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Bautista-Molano, Wilson; Landewé, Robert B M; Serna, Cesar; Valle-Oñate, Rafael; van der Heijde, Désirée
2017-01-01
To evaluate the patients' characteristics associated with the clinical decision to request SI-MRI and/or HLA-B27 in patients with SpA in daily practice. Patients referred to a rheumatology outpatient-clinic in a national referral-centre were selected. Patients with a clinical diagnosis of SpA according to the rheumatologist were included. SI-MRI and HLA-B27 was available for patients in whom the rheumatologists had ordered these tests. Characteristics associated with ordering SI-MRI or HLA-B27 were identified with univariable analyses. Variables with p-value <0.05 and >80% completeness were selected for further analysis. A multivariable logistic regression analysis was used to evaluate the determinants related with the decision to perform SI-MRI and/or HLA-B27 and odds ratios with 95% confidence intervals were calculated. In total, 581 patients with SpA were included in the cohort, 72% were men, mean age 34.6±12.1 and disease duration 7.3±9.7 years. Of these patients, 24% (n=137) had SI-MRI and 77% (n=441) had HLA-B27 tests ordered. Independently predictive factors for ordering a SI-MRI were the presence of IBP (OR=1.81), enthesitis (OR=1.57) and the number of initial-symptoms at presentation (OR=1.27 per additional symptom present). Independently predictive factors of HLA-B27 testing were the number of initial-symptoms (OR=1.45 per symptom) and uveitis (OR=3.19). This study strongly suggests that rheumatologists use certain clinical clues to decide if they order expensive and scarce tests in the diagnostic work-up of SpA patients. These manifestations may increase the efficiency of these tests in clinical practice and suggest that clinical reasoning follows principles of Bayesian theory.
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Autoimmune Encephalitis: Pathophysiology and Imaging Review of an Overlooked Diagnosis.
Kelley, B P; Patel, S C; Marin, H L; Corrigan, J J; Mitsias, P D; Griffith, B
2017-06-01
Autoimmune encephalitis is a relatively new category of immune-mediated disease involving the central nervous system that demonstrates a widely variable spectrum of clinical presentations, ranging from the relatively mild or insidious onset of cognitive impairment to more complex forms of encephalopathy with refractory seizure. Due to its diverse clinical features, which can mimic a variety of other pathologic processes, autoimmune encephalitis presents a diagnostic challenge to clinicians. Imaging findings in patients with these disorders can also be quite variable, but recognizing characteristic findings within limbic structures suggestive of autoimmune encephalitis can be a key step in alerting clinicians to the potential diagnosis and ensuring a prompt and appropriate clinical work-up. In this article, we review antibody-mediated encephalitis and its various subtypes with a specific emphasis on the role of neuroimaging in the diagnostic work-up. © 2017 by American Journal of Neuroradiology.
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Rialon, Kristy L; Wolf, Steven; Routh, Jonathan C; Adibe, Obinna O
2017-04-01
Ultrasonography (US) is the diagnostic modality of choice during work-up for ovarian torsion, although computed tomography (CT) may be used. We examined the utilization of CT in girls with ovarian torsion, and determined which patients are most likely to undergo this study. The Nationwide Emergency Department Sample dataset was searched for patients <18 years who presented with ovarian torsion from 2006 to 2012. Hospitals were categorized by the volume of pediatric patients seen. A total of 1279 patients were identified. Seven hundred twelve (56%) were seen at adult hospitals, 154 (12%) at pediatric privileged, and 413 (32%) at pediatric hospitals. Patients cared for in a pediatric or pediatric privileged hospital had more US alone performed to diagnose ovarian torsion (p < 0.01). Girls seen at pediatric hospitals are more likely to undergo US for work-up of ovarian torsion. Copyright © 2016 Elsevier Inc. All rights reserved.
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Rapidly Progressive Osteoarthritis: a Review of the Clinical and Radiologic Presentation.
Flemming, Donald J; Gustas-French, Cristy N
2017-07-01
The purpose of this paper is to review the distinct clinical and radiographic features that may lead to prompt diagnosis of rapidly progressive osteoarthritis (RPOA) and thus obviate unnecessary and costly diagnostic workup. RPOA is uncommon but is more frequently seen in practice because of the aging population. RPOA is a destructive arthropathy that occurs most commonly in elderly women but can also be seen in patients that have sustained trauma. The dramatic radiologic manifestations of RPOA can lead to diagnostic confusion with other arthropathies, infection, and osteonecrosis. RPOA was originally described in the hip but may also involve the shoulder. The etiology of RPOA is not well understood, but subchondral fracture probably plays a role in the development of dramatic destruction of the joint that is seen in affected patients. Early diagnosis may reduce the complexity of surgical management. RPOA is an uncommon condition that occurs most frequently in elderly woman or in patients who have sustained trauma. Prompt recognition of the clinical and radiologic features of this arthropathy can reduce unnecessary diagnostic workup and complexity of surgical intervention.
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Suspected hypothyroid-associated neuropathy in a female rottweiler dog
Rushton, James Oliver; Leschnik, Michael; Nell, Barbara
2013-01-01
A 7-year-old, 46-kg spayed female rottweiler dog was presented with sudden onset of disorientation, bilateral convergent strabismus, and enophthalmos. Diagnostic workup revealed hypothyroid-associated cranial neuropathy. Symptoms abated considerably upon treatment with levothyroxine-sodium (T4) at an initial dose of 800 μg/kg body weight (BW), PO, q12h, which was reduced 3 days later to 600 μg/kg BW, q12h due to severe agitation and panting. Two weeks later the dosage of the levothyroxine-sodium (T4) was reduced to 400 μg/kg BW in the morning and 600 μg/kg BW in the evening. Eight weeks after the initial presentation, the dog had recovered with only mild convergent strabismus in the right eye. This is the first case report of suspected hypothyroid-associated neuropathy resulting in these symptoms. PMID:24082164
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Laryngeal Electromyography is Helpful for Cardiovocal Syndrome.
Akbulut, Sevtap; Inan, Rahsan; Demir, Mehmet Gökhan; Cakan, Dogan
2016-01-01
Laryngeal electromyography is used in the evaluation of vocal cord paralysis to confirm the diagnosis, to guide the diagnostic work-up for etiology, to provide prognostic information and to help choose the correct treatment for the patient. Cardiovocal syndrome is characterised by vocal cord paralysis due to a cardiovascular disease. A wide spectrum of conditions can result in this syndrome. Here we present a case of cardiovocal syndrome in association with primary pulmonary hypertension. Laryngeal electromyography was used to guide the work-up of differential diagnosis and also for further intervention with respect to vocal cord paralysis in this patient.
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Viazzi, Francesca; Leoncini, Giovanna; Parodi, Denise; Ratto, Elena; Vettoretti, Simone; Vaccaro, Valentina; Parodi, Angelica; Falqui, Valeria; Tomolillo, Cinzia; Deferrari, Giacomo; Pontremoli, Roberto
2005-03-01
Accurate assessment of cardiovascular risk is a key step toward optimizing the treatment of hypertensive patients. We analyzed the impact and cost-effectiveness of routine, thorough assessment of target organ damage (TOD) in evaluating risk profile in hypertension. A total of 380 never-treated patients with essential hypertension underwent routine work-up plus evaluation of albuminuria and ultrasonography of cardiac and vascular structures. The impact of these tests on risk stratification, as indicated by European Society of Hypertension-European Society of Cardiology guidelines, was assessed in light of their cost and sensitivity. The combined use of all of these tests greatly improved the detection of TOD, therefore leading to the identification of a higher percentage of patients who were at high/very high risk, as compared with those who were detected by routine clinical work-up (73% instead of 42%; P < 0.0001). Different signs of TOD only partly cluster within the same subgroup of patients; thus, all three tests should be performed to maximize the sensitivity of the evaluation process. The diagnostic algorithm yielding the lowest cost per detected case of TOD is the search for microalbuminuria, followed by echocardiography and then carotid ultrasonography. Adopting lower cut-off values to define microalbuminuria allows us to optimize further the cost-effectiveness of diagnostic algorithms. In conclusion, because of its low cost and widespread availability, measuring albuminuria is an attractive and cost-effective screening test that is especially suitable as the first step in the large-scale diagnostic work-up of hypertensive patients.
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Unirhinal Olfactory Testing for the Diagnostic Workup of Mild Cognitive Impairment.
Huart, Caroline; Rombaux, Philippe; Gérard, Thomas; Hanseeuw, Bernard; Lhommel, Renaud; Quenon, Lisa; Ivanoiu, Adrian; Mouraux, André
2015-01-01
Olfactory dysfunction is associated with Alzheimer's disease (AD), and already present at pre-dementia stage. Based on the assumption that early neurodegeneration in AD is asymmetrical and that olfactory input is primarily processed in the ipsilateral hemisphere, we assessed whether unirhinal psychophysical and electrophysiological assessment of olfactory function can contribute to the diagnostic workup of mild cognitive impairment (MCI). Olfactory function of 13 MCI patients with positive amyloid PET, 13 aged-matched controls (AC) with negative amyloid PET and 13 patients with post-infectious olfactory loss (OD) was assessed unirhinally using (1) psychophysical testing of olfactory detection, discrimination and identification performance and (2) the recording of olfactory event-related brain potentials. Time-frequency analysis was used to enhance the signal-to-noise ratio of the electrophysiological responses. Psychophysical and electrophysiological assessment of auditory and trigeminal chemosensory function served as controls. As compared to AC and OD, MCI patients exhibited a significant asymmetry of olfactory performance. This asymmetry efficiently discriminated between MCI and AC (sensitivity: 85% , specificity: 77% ), as well as MCI and OD (sensitivity: 85% , specificity: 70% ). There was also an asymmetry of the electrophysiological responses, but not specific for MCI. In both MCI and OD, olfactory stimulation of the best nostril elicited significantly more activity than stimulation of the worse nostril, between 3-7.5 Hz and 1.2-2.0 s after stimulus onset. Trigeminal and auditory psychophysical testing did not show any difference between groups. MCI patients exhibit a marked asymmetry of behavioral olfactory function, which could be useful for the diagnostic workup of MCI.
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Liu, Hao; Hemminki, Kari; Sundquist, Jan; Holleczek, Bernd; Katalinic, Alexander; Emrich, Katharina; Brenner, Hermann
2013-05-01
In unsparing efforts to find the hidden primaries, second primary cancers (SPCs) unrelated to cancer of unknown primary (CUP) are found. The detection rates of SPCs after CUP can be considered as measures for the effectiveness of modern diagnostic techniques in finding tumors. We aimed to compare the rates of specific SPCs found after the work-up of CUP and the more sign/symptom-directed diagnostic approaches applied after any other cancer. The number of CUP patients identified in the nationwide Swedish database and nine German cancer registries was 24 641 from 1997 through 2006, and rate ratios (RRs) for SPCs were recorded in two follow-up periods. The detection rate of SPCs immediately after any other cancer was about two times higher in Germany than in Sweden, but the rate immediately after CUP was almost the same for the two datasets. In the joint analyses after CUP, the RRs of liver, lung, breast, and kidney cancers were higher than after any other cancer, whereas the RRs of prostate, urinary bladder, and connective tissue cancers as well as non-Hodgkin's lymphoma were not significantly different; the RR of cancers of upper aerodigestive tract was lower after CUP than after any other cancer. The joint data indicate that the work-up is efficient in detecting tumors in the thoracoabdominal organs that are screened by computed tomography. For some other organ sites, the more sign/symptom-directed diagnostic approaches may be equally efficient. However, none of the applied techniques could detect all tumors immediately after the first diagnosis.
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[Acute myeloid leukemia. Genetic diagnostics and molecular therapy].
Schlenk, R F; Döhner, K; Döhner, H
2013-02-01
Acute myeloid leukemia (AML) is a genetically heterogeneous disease. The genetic diagnostics have become an essential component in the initial work-up for disease classification, prognostication and prediction. More and more promising molecular targeted therapeutics are becoming available. A prerequisite for individualized treatment strategies is a fast pretherapeutic molecular screening including the fusion genes PML-RARA, RUNX1-RUNX1T1 and CBFB-MYH11 as well as mutations in the genes NPM1, FLT3 and CEBPA. Promising new therapeutic approaches include the combination of all- trans retinoic acid and arsentrioxid in acute promyelocytic leukemia, the combination of intensive chemotherapy with KIT inhibitors in core-binding factor AML and FLT3 inhibitors in AML with FLT3 mutation, as well as gemtuzumab ozogamicin therapy in patients with low and intermediate cytogenetic risk profiles. With the advent of the next generation sequencing technologies it is expected that new therapeutic targets will be identified. These insights will lead to a further individualization of AML therapy.
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Wittkowski, Helmut; Hinze, Claas; Häfner-Harms, Sigrid; Oji, Vinzenz; Masjosthusmann, Katja; Monninger, Martina; Grenzebach, Ulrike; Foell, Dirk
2017-04-05
Systemic autoinflammatory diseases (SAIDs) represent a growing number of monogenic, polygenic or multifactorial disorders that are often difficult to diagnose. Here we report a patient who was initially erroneously diagnosed and treated for SAID. Symptoms consisted of recurrent fever, erythematous and/or blistering skin lesions, angioedema, susceptibility to bleeding, external ear infections and reversible anisocoria in the absence of laboratory evidence of systemic inflammation. After two and a half years of extensive diagnostic work-up and multiple empirical therapies, a final diagnosis of Munchausen by proxy syndrome (MBPS) was established. The diagnosis of SAID needs to be carefully reassessed if measurable systemic inflammation is missing, and MBPS should be included in the differential diagnosis.
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Middle lobe syndrome in children today.
Romagnoli, Vittorio; Priftis, Kostas N; de Benedictis, Fernando M
2014-06-01
Middle lobe syndrome in children is a distinct clinical and radiographic entity that has been well described in the pediatric literature. However, issues regarding its etiology, clinical presentation, and management continue to puzzle the clinical practitioner. Pathophysiologically, there are two forms of middle lobe syndrome, namely obstructive and nonobstructive. Middle lobe syndrome may present as symptomatic or asymptomatic, as persistent or recurrent atelectasis, or as pneumonitis or bronchiectasis of the middle lobe and/or lingula. A lower threshold of performing a chest radiograph is warranted in children with persistent or recurrent nonspecific respiratory symptoms, particularly if there is clinical deterioration, in order to detect middle lobe syndrome and to initiate a further diagnostic and therapeutic workup. Copyright © 2014 Elsevier Ltd. All rights reserved.
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Liberman, Ava L; Kalani, Rizwan E; Aw-Zoretic, Jessie; Sondag, Matthew; Daruwalla, Vistasp J; Mitter, Sumeet S; Bernstein, Richard; Collins, Jeremy D; Prabhakaran, Shyam
2017-12-01
Background The use of cardiac magnetic resonance imaging is increasing, but its role in the diagnostic work-up following ischemic stroke has received limited study. We aimed to explore the added yield of cardiac magnetic resonance imaging to identify cardio-aortic sources not detected by transesophageal echocardiography among patients with cryptogenic stroke. Methods A retrospective single-center cohort study was performed from 01 January 2009 to 01 March 2013. Consecutive patients who had both a stroke protocol cardiac magnetic resonance imaging and a transesophageal echocardiography preformed during a single hospitalization were included. All cardiac magnetic resonance imaging studies underwent independent, blinded review by two investigators. We applied the causative classification system for ischemic stroke to all patients, first blinded to cardiac magnetic resonance imaging results; we then reapplied the causative classification system using cardiac magnetic resonance imaging. Standard statistical tests to evaluate stroke subtype reclassification rates were used. Results Ninety-three patients were included in the final analysis; 68.8% were classified as cryptogenic stroke after initial diagnostic evaluation. Among patients with cryptogenic stroke, five (7.8%) were reclassified due to cardiac magnetic resonance imaging findings: one was reclassified as "cardio-aortic embolism evident" due to the presence of a patent foramen ovale and focal cardiac infarct and four were reclassified as "cardio-aortic embolism possible" due to mitral valve thickening (n = 1) or hypertensive cardiomyopathy (n = 3). Overall, findings on cardiac magnetic resonance imaging reduced the percentage of patients with cryptogenic stroke by slightly more than 1%. Conclusion Our stroke subtype reclassification rate after the addition of cardiac magnetic resonance imaging results to a diagnostic work-up which includes transesophageal echocardiography was very low. Prospective studies evaluating the role of cardiac magnetic resonance imaging and transesophageal echocardiography among patients with cryptogenic stroke should be considered.
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Miglioretti, Diana L; Lange, Jane; van den Broek, Jeroen J; Lee, Christoph I; van Ravesteyn, Nicolien T; Ritley, Dominique; Kerlikowske, Karla; Fenton, Joshua J; Melnikow, Joy; de Koning, Harry J; Hubbard, Rebecca A
2016-02-16
Estimates of risk for radiation-induced breast cancer from mammography screening have not considered variation in dose exposure or diagnostic work-up after abnormal screening results. To estimate distributions of radiation-induced breast cancer incidence and mortality from digital mammography screening while considering exposure from screening and diagnostic mammography and dose variation among women. 2 simulation-modeling approaches. U.S. population. Women aged 40 to 74 years. Annual or biennial digital mammography screening from age 40, 45, or 50 years until age 74 years. Lifetime breast cancer deaths averted (benefits) and radiation-induced breast cancer incidence and mortality (harms) per 100,000 women screened. Annual screening of 100,000 women aged 40 to 74 years was projected to induce 125 breast cancer cases (95% CI, 88 to 178) leading to 16 deaths (CI, 11 to 23), relative to 968 breast cancer deaths averted by early detection from screening. Women exposed at the 95th percentile were projected to develop 246 cases of radiation-induced breast cancer leading to 32 deaths per 100,000 women. Women with large breasts requiring extra views for complete examination (8% of population) were projected to have greater radiation-induced breast cancer risk (266 cancer cases and 35 deaths per 100,000 women) than other women (113 cancer cases and 15 deaths per 100,000 women). Biennial screening starting at age 50 years reduced risk for radiation-induced cancer 5-fold. Life-years lost from radiation-induced breast cancer could not be estimated. Radiation-induced breast cancer incidence and mortality from digital mammography screening are affected by dose variability from screening, resultant diagnostic work-up, initiation age, and screening frequency. Women with large breasts may have a greater risk for radiation-induced breast cancer. Agency for Healthcare Research and Quality, U.S. Preventive Services Task Force, National Cancer Institute.
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[Etiology and diagnostic methods in vocal cord paralysis].
Jørgensen, Gita; Clausen, Eva Wiinstedt; Mantoni, Margit Y; Misciattelli, Lorenzo; Balle, Viggo
2003-02-10
The etiology of vocal cord paralysis (VCP) is varied. There is lack of consensus regarding the choice of investigations to be used in the evaluation of VCP. The aim of this study was to establish the etiology, assess the diagnostic methods used in the evaluation, and outline an algorithm for future evaluation of unilateral vocal cord paralysis (UVCP). Charts of all patients (n = 94) with the diagnostic code of VCP were reviewed, and reexaminations were performed of patients in whom no etiology was found after the initial symptoms. The etiology of UVCP was neoplasm in 34%, surgical trauma in 12%, and miscellaneous causes in 54%. The etiology of bilateral vocal cord paralysis (BVCP) was neoplasm in 24%, surgical trauma in 24%, and miscellaneous causes in 52%. The reexaminations did not reveal any cancer diseases in the patients concerned. The most effective diagnostic method was CT-scanning while the least effective was thyroid scanning. Because cancer is a common cause of VCP a thorough evaluation is necessary. For UVCP we recommend history and physical examination, X-ray of the chest, ultrasonography of the neck, and CT-scanning of the superior mediastinum. If these prove negative, panendoscopy should be performed. Workup of patients with idiopathic VCP should include examination, X-ray of the chest at 6-month intervals, and annual CT-scanning for two years.
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CSF lactate for accurate diagnosis of community-acquired bacterial meningitis.
Giulieri, S; Chapuis-Taillard, C; Jaton, K; Cometta, A; Chuard, C; Hugli, O; Du Pasquier, R; Bille, J; Meylan, P; Manuel, O; Marchetti, O
2015-10-01
CSF lactate measurement is recommended when nosocomial meningitis is suspected, but its value in community-acquired bacterial meningitis is controversial. We evaluated the diagnostic performance of lactate and other CSF parameters in a prospective cohort of adult patients with acute meningitis. Diagnostic accuracy of lactate and other CSF parameters in patients with microbiologically documented episodes was assessed by receiver operating characteristic (ROC) curves. The cut-offs with the best diagnostic performance were determined. Forty-five of 61 patients (74%) had a documented bacterial (n = 18; S. pneumoniae, 11; N. meningitidis, 5; other, 2) or viral (n = 27 enterovirus, 21; VZV, 3; other, 3) etiology. CSF parameters were significantly different in bacterial vs. viral meningitis, respectively (p < 0.001 for all comparisons): white cell count (median 1333 vs. 143/mm(3)), proteins (median 4115 vs. 829 mg/l), CSF/blood glucose ratio (median 0.1 vs. 0.52), lactate (median 13 vs. 2.3 mmol/l). ROC curve analysis showed that CSF lactate had the highest accuracy for discriminating bacterial from viral meningitis, with a cutoff set at 3.5 mmol/l providing 100% sensitivity, specificity, PPV, NPV, and efficiency. CSF lactate had the best accuracy for discriminating bacterial from viral meningitis and should be included in the initial diagnostic workup of this condition.
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Wurmb, T E; Quaisser, C; Balling, H; Kredel, M; Muellenbach, R; Kenn, W; Roewer, N; Brederlau, J
2011-04-01
Whole-body multislice helical CT becomes increasingly important as a diagnostic tool in patients with multiple injuries. Time gain in multiple-trauma patients who require emergency surgery might improve outcome. The authors hypothesised that whole-body multislice computed tomography (MSCT) (MSCT trauma protocol) as the initial diagnostic tool reduces the interval to start emergency surgery (tOR) if compared to conventional radiography, combined with abdominal ultrasound and organ-focused CT (conventional trauma protocol). The second goal of the study was to investigate whether the diagnostic approach chosen has an impact on outcome. The authors' level 1 trauma centre uses whole-body MSCT for initial radiological diagnostic work-up for patients with suspected multiple trauma. Before the introduction of MSCT in 2004, a conventional approach was used. Group I: data of trauma patients treated with conventional trauma protocol from 2001 to 2003. Group II: data from trauma patients treated with whole-body MSCT trauma protocol from 2004 to 2006. tOR in group I (n=155) was 120 (90-150) min (median and IQR) and 105 (85-133) min (median and IQR) in group II (n=163), respectively (p<0.05). Patients of group II had significantly more serious injuries. No difference in outcome data was found. 14 patients died in both groups within the first 30 days; five of these died within the first 24 h. A whole-body MSCT-based diagnostic approach to multiple trauma shortens the time interval to start emergency surgery in patients with multiple injuries. Mortality remained unchanged in both groups. Patients of group II were more seriously injured; an improvement of outcome might be assumed.
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Kołodziej, Łukasz; Napiontek, Marek; Kazimierczak, Arkadiusz
2013-01-01
Posterior tibial tendon dysfunction (PTTD) ranks among the most common causes of adult acquired flatfoot deformity. The deformity develops gradually through characteristic stages and its early manifestations are often ignored or mis-diagnosed. The aim of the study was to gain an insight into what the participants of the 5th Polish Foot and Ankle Society Congress knew about the diagnosis and treatment of flatfoot. An anonymous survey described the clinical presentation of a hypothetical patient with fixed stage III (according to the Johnson and Strom classification) acquired flatfoot deformity in PTTD. A total of 65 questionnaires were distributed and 51 (78%) were completed and returned. The respondents included 40 orthopaedics consultants and 11 orthopaedics and traumatology resident doctors. The mean time of work experience of the specialists was 17.5 years and that of resident doctors, 3.5 years. The deformity was properly diagnosed by 36 respondents (71%), including 29 specialists (73%) and 7 resident doctors (63%). Proper operative treatment was selected by 28 respondents (52%): 24 specialists (60%) and 4 residents (36%). Overall, appropriate comprehensive diagnostic work-up and treatment was planned only by 19 respondents (35%), including 17 specialists (32%) and 2 residents (4%). Appropriate diagnostic work-up and treatment of acquired flatfoot deformity in PTTD was planned by less than half of the respondents and their work experience did not have any relation with the management they suggested. 1. There is a significant lack of knowledge about PTTD among residents. 2. The majority of PFAS members surveyed selected the correct method of diagnostic work-up and treatment, but the differences with respect to non-PFAS respondents were not statistically significant.
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Failure to Thrive: A Prospective Study in a Pediatric Gastroenterology Clinic.
Larson-Nath, Catherine M; Goday, Praveen S
2016-06-01
We aimed to describe the clinical characteristics, diagnostic work-up, interventions, and outcomes of children referred to a pediatric gastroenterology clinic with the diagnosis of failure to thrive (FTT). We prospectively enrolled 110 children seen for the first time in our pediatric gastroenterology clinic for FTT. Standard demographic information, history, and anthropometric data were collected at initial and follow-up visits. We also obtained data about diagnostic workup, therapeutic interventions, and growth outcomes. Seventy patients (63.6%) were boys with a median age of 0.79 years (interquartile range 0.36-1.98). Of the 91 children with follow-up data, 81 (89%) were found to have nonorganic etiologies of their FTT. The majority of children (56.4%) underwent laboratory evaluation. Imaging and endoscopic evaluations were performed in fewer patients (29.6 and 10.2%, respectively). Endoscopic intervention yielded a diagnosis in 16.7% of patients while the positive result rates for laboratory testing and imaging were 3.2% and 3.1%, respectively. The most common therapeutic interventions included increasing calories (71.8%), avoiding grazing (71.8%), and structuring meals and snacks (67.3%). Compared with nonadherent children, children who were adherent with standard behavioral and nutritional interventions showed a higher positive change in z scores for weight (0.36 vs -0.01, P = 0.001) and body mass index (0.58 vs -0.18, P = 0.031). The majority of children in a pediatric gastroenterology clinic with FTT have nonorganic etiologies of their failure to thrive. Laboratory, imaging, and endoscopic evaluation are rarely positive and should be judiciously performed. Adherence to standardized interventions leads to improved growth.
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Practical guidance for the management of iron deficiency in patients with inflammatory bowel disease
Niepel, Dorothea; Klag, Thomas; Malek, Nisar P.; Wehkamp, Jan
2018-01-01
Iron deficiency or iron deficiency anemia (IDA) are some of the most common systemic complications of inflammatory bowel diseases (IBD). Symptoms such as fatigue, reduced ability to concentrate and reduced exercise tolerance can mimic common symptoms of IBD and can therefore easily be overseen. Furthermore, clinicians tend to see mild to moderate anemia as an inevitable accompaniment of IBD that is sufficiently explained by the underlying disease and does not require further workup. But in contrast to these clinical routines, current guidelines recommend that any degree of anemia in patients with IBD should be further evaluated and treated. Multiple studies have shown that anemia is a main factor for decreased quality of life (QoL) in patients with IBD. Correction of anemia, however, can significantly improve the QoL of patients with IBD. It is therefore recommended that every patient with IBD is regularly screened for iron deficiency and anemia. If detected, appropriate workup and treatment should be initiated. Over the last years, a number of new diagnostic tools and treatment options have been developed. Multiple studies have demonstrated the safety of newer formulations of intravenous iron in patients with IBD and have compared oral and intravenous iron in various situations. Treatment recommendations have changed and new evidence-based guidelines were developed. However, to date these guidelines are still not widely implemented in clinical practice. The aim of this review is to draw attention to the need for treatment for every level of anemia in patients with IBD and to provide some practical guidance for screening, diagnostics, treatment and follow up of IDA in patients with IBD following current international guidelines. PMID:29760784
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Acute testicular torsion in children: the role of sonography in the diagnostic workup.
Gunther, P; Schenk, J P; Wunsch, R; Holland-Cunz, S; Kessler, U; Troger, J; Waag, K L
2006-11-01
Acute testicular torsion in children is an emergency and has to be diagnosed urgently. Doppler sonography is increasingly used in imaging the acute scrotum. Nevertheless, in uncertain cases, surgical exploration is required. In this study, we attempted to define the role of Doppler sonography in the diagnostic workup of the acutely painful scrotum. All patients admitted between 1999 and 2005 with acute scrotal pain were included. After clinical assessment, patients were imaged by Doppler sonography with a ''high-end'' instrument. In cases of absent arterial perfusion of the testis in Doppler sonography, surgical exploration was carried out. Patients with unaffected perfusion were followed clinically by ultrasound for up to 2 years. Sixty-one infants and children aged 1 day to 17 years (median: 7.9 years) were included. In 14 cases, sonography demonstrated absent central perfusion, with abnormal parenchymal echogenicity in six. Absence of venous blood flow together with reduction of central arterial perfusion was found in one infant. In these 15 patients, surgical exploration confirmed testicular torsion. Among the other 46 patients, we found four cases with increased testicular perfusion and 27 with increased perfusion of the epididymis. In one infant, a testicular tumour was found sonographically, and orchiectomy confirmed diagnosis of a teratoma. Follow-up examinations of the conservatively treated patients showed good clinical outcome with physiologic central perfusion as well as normal echogenic pattern of both testes. No case of testicular torsion was missed. By means of Doppler sonography, an unequivocal statement regarding testicular perfusion was possible in all cases. The initial Doppler diagnosis was confirmed by operative evaluation and follow-up ultrasound. Testicular torsion can therefore be excluded by correctly performed ultrasound with modern equipment.
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de Nanassy, Joseph; El Demellawy, Dina
2017-01-01
Immunohistochemical (IHC) stains are widely used by pathologists for a variety of considerations in the diagnostic workup of pediatric nonneoplastic lesions in gastrointestinal (GI), hepatic, biliary, and pancreatic lesions. The pathologic changes cover a wide range and types of presentations, including inflammatory (bacterial and viral), metaplastic, posttransplant lymphoproliferative, autoimmune, metabolic, degenerative, developmental, and genetic conditions, among others. The everyday practical value of IHC stains covers primary identification, confirmation, differential, and/or exclusionary roles in the hands and eyes and minds of the practitioners. This article is intended to review and discuss the currently available IHC stains for a variety of pediatric GI, hepatobiliary, and pancreatic lesions as encountered in the day-to-day practice of pathologists and clinicians. It reflects the most recent methods and types of IHC stains with the stated aim of helping to provide a quick reference for diagnostic considerations and thereby facilitate the workup of a broad range of GI and related conditions in a pediatric population. The tables provide a handy reference on a wide range of IHC stains for commonly encountered lesions covering a variety of pediatric GI, hepatobiliary, and pancreatic conditions that are amenable to light microscopic diagnostic interpretation. PMID:28469406
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[Therapy of orbital neoplasms in small animals].
Spiess, B M; Rühli, M B; Bauer, G A
1995-10-01
The incidence, clinical signs and diagnostic work-up of orbital neoplasms is briefly discussed. The surgical management of such tumors is discussed in detail on the basis of three clinical cases. Long-term functional and cosmetic results are shown. Intraoperative and postoperative complications are discussed.
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Muller, Fenna Floortje; de Beer, Frank; Visser, Marieke Christine
2017-09-01
Previous research has shown the importance of urgent initiation of antiplatelet therapy after transient ischemic attack (TIA) to reduce the risk of stroke. Many hospitals in the Netherlands have therefore implemented rapid pathways for assessment of patients with TIA. Dutch stroke guidelines lack clear directives for organization of TIA assessment and thus allow for variation. The aim of this study was to investigate variation in organization of TIA assessment in Dutch hospitals. One neurologist per hospital (of 88 Dutch hospitals) with special interest in stroke was invited to participate in a web-based survey addressing the organization, content, and timing of TIA assessment. Seventy (80%) neurologists completed the survey, all of whom reported performing TIA assessment in their hospital. There was considerable variation in the method of application and the location of assessment. In 10% of the hospitals, patients with TIA are always admitted to the ward. The content of diagnostics is fairly similar, but hospitals vary in the extent of cardiological workup. Almost all hospitals aim for a swift start of assessment as directed by guidelines, but access time differs. Eighty-six percent of respondents reported that antiplatelet therapy is usually initiated before assessment, based on history. This study showed variation in organization of TIA assessment in Dutch hospitals, especially regarding location within the hospital, time to assessment after announcement, and cardiological workup. Further research is needed to investigate implications of this variation for quality of care. Copyright © 2017 National Stroke Association. Published by Elsevier Inc. All rights reserved.
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Autoimmune Hepatitis: Diagnostic Dilemma When It Is Disguised as Iron Overload Syndrome.
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.
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Right bundle branch block pattern during right ventricular permanent pacing: Is it safe or not?
Erdogan, Okan; Aksu, Feyza
2007-01-01
The present case report describes a patient with dual chamber pacemaker whose surface ECG demonstrated paced right bundle branch block pattern suggesting a malpositioned ventricular lead in the left ventricle. However, diagnostic work-up revealed that the lead was appropriately located in the right ventricular apex. Diagnostic maneuvers and clues for differentiating safe right bundle branch block pattern during permanent pacing are thoroughly revisited and discussed within the article. PMID:17684578
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Rosenbach, Misha; English, Joseph C
2015-07-01
The terms "palisaded neutrophilic and granulomatous dermatitis," "interstitial granulomatous dermatitis," and the subset "interstitial granulomatous drug reaction" are a source of confusion. There exists substantial overlap among the entities with few strict distinguishing features. We review the literature and highlight areas of distinction and overlap, and propose a streamlined diagnostic workup for patients presenting with this cutaneous reaction pattern. Because the systemic disease associations and requisite workup are similar, and the etiopathogenesis is poorly understood but likely similar among these entities, we propose the simplified unifying term "reactive granulomatous dermatitis" to encompass these entities. Copyright © 2015 Elsevier Inc. All rights reserved.
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False positive indium-111 white blood cell scan in a closed clavicle fracture
DOE Office of Scientific and Technical Information (OSTI.GOV)
Friedman, R.J.; Gordon, L.
1988-01-01
Aggressive treatment of the multiply injured patient often requires early fixation of many fractures, some of which may be open. Often, patients develop postoperative fevers requiring a thorough workup to rule out infection. Recently, indium-111 white blood cell (WBC) imaging has become a valuable adjunct in the diagnosis of acute infection. The patient described had a simple, closed clavicle fracture with markedly increased activity on an indium-111 WBC scan obtained for fever workup. This subsequently proved to be a normal, healing, noninfected fracture by other diagnostic techniques. Noninfected, simple closed fractures should be added to the list of causes formore » a false-positive indium-111 WBC scan.« less
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Cohen, C D; Kretzler, M
2009-03-01
Histological analysis of kidney biopsies is an essential part of our current diagnostic workup of patients with renal disease. Besides the already established diagnostic tools, new methods allow extensive analysis of the sample tissue's gene expression. Using results from a European multicenter study on gene expression analysis of renal biopsies, in this review we demonstrate that this novel approach not only expands the scope of so-called basic research but also might supplement future biopsy diagnostics. The goals are improved diagnosis and more specific therapy choice and prognosis estimates.
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Suen, Kyle; Mashhadian, Ardavan; Figarsky, Ian; Payumo, Jeff; Liu, Antonio
2017-12-01
Shunt nephritis is a rare and relatively new diagnosis involving glomerular kidney damage following ventriculoperitoneal and ventriculoatrial shunt placement. Our case report summarizes the presentation, diagnostic workup, and management of a patient with shunt nephritis. We also review and discuss the current literature on the topic.
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Management of early renal anaemia: diagnostic work-up, iron therapy, epoetin therapy.
Van Wyck, D B
2000-01-01
Effective management of early anaemia in the course of chronic renal insufficiency requires the following: (i) implementing an efficient diagnostic strategy to exclude common contributing factors; (ii) initiating epoetin therapy for the majority of patients; for and (iii) ensuring adequate iron supply erythropoiesis. Diagnostic inquiry is warranted whenever the haemoglobin concentration is below the normal range adjusted for age and gender. The most efficient diagnostic approach is to assume erythropoietin deficiency, exclude iron deficiency, and pursue further diagnostic tests only when red-cell indices are abnormal or when leukopenia or thrombocytopenia are also present. Macrocytosis should prompt an inquiry into alcoholism, B12 deficiency, or folate deficiency. Microcytosis suggests iron deficiency or thalassaemia. Associated cytopenias raise the possibility of alcohol toxicity, pernicious anaemia, malignancy, or myelodysplastic syndrome. Epoetin therapy is warranted whenever the haemoglobin concentration has fallen below 10.0 g/dl. To initiate therapy prior to dialysis, epoetin should be administered at an average dose of 100 IU/kg/week (80-120 IU/kg/week, 50-150 IU/kg/ week) by subcutaneous injection. Haemoglobin concentration should be monitored every 2 weeks and the epoetin dose adjusted by increments or decrements of 25% to maintain a rate of rise of haemoglobin concentration of 0.2-0.6 g/dl (0.3 0.6 g/dl/week, 0.2-0.5 g/dl/week). When the target range is achieved, the dose of epoetin should be continually adjusted to maintain a stable haemoglobin concentration. Transferrin saturation and ferritin concentration should be monitored monthly, and sufficient iron provided to maintain transferrin saturation above 20%. The lower the haemoglobin concentration, the greater the likelihood that future intravenous iron will be required. Oral iron supplements should be avoided, since they are costly, ineffective, and troublesome to patients. Finally, a blunted therapeutic response to epoetin therapy provides important diagnostic information and gnostic inquiry.
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Blümcke, Ingmar; Aronica, Eleonora; Miyata, Hajime; Sarnat, Harvey B; Thom, Maria; Roessler, Karl; Rydenhag, Bertil; Jehi, Lara; Krsek, Pavel; Wiebe, Samuel; Spreafico, Roberto
2016-03-01
Epilepsy surgery is an effective treatment in many patients with drug-resistant focal epilepsies. An early decision for surgical therapy is facilitated by a magnetic resonance imaging (MRI)-visible brain lesion congruent with the electrophysiologically abnormal brain region. Recent advances in the pathologic diagnosis and classification of epileptogenic brain lesions are helpful for clinical correlation, outcome stratification, and patient management. However, application of international consensus classification systems to common epileptic pathologies (e.g., focal cortical dysplasia [FCD] and hippocampal sclerosis [HS]) necessitates standardized protocols for neuropathologic workup of epilepsy surgery specimens. To this end, the Task Force of Neuropathology from the International League Against Epilepsy (ILAE) Commission on Diagnostic Methods developed a consensus standard operational procedure for tissue inspection, distribution, and processing. The aims are to provide a systematic framework for histopathologic workup, meeting minimal standards and maximizing current and future opportunities for morphofunctional correlations and molecular studies for both clinical care and research. Whenever feasible, anatomically intact surgical specimens are desirable to enable systematic analysis in selective hippocampectomies, temporal lobe resections, and lesional or nonlesional neocortical samples. Correct orientation of sample and the sample's relation to neurophysiologically aberrant sites requires good communication between pathology and neurosurgical teams. Systematic tissue sampling of 5-mm slabs along a defined anatomic axis and application of a limited immunohistochemical panel will ensure a reliable differential diagnosis of main pathologies encountered in epilepsy surgery. Wiley Periodicals, Inc. © 2016 International League Against Epilepsy.
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How useful is abdominal ultrasonography in dogs with diarrhoea?
Mapletoft, E K; Allenspach, K; Lamb, C R
2018-01-01
To assess the utility of abdominal ultrasonography in the diagnostic work-up of dogs with diarrhoea. Retrospective cross-sectional study based on a referral population of dogs with diarrhoea. Associations between the clinical signs, use of abdominal ultrasonography, results of abdominal ultrasonography and subsequent work-up were examined. The utility of abdominal ultrasonography was scored as high, moderate, none or counterproductive based on review of medical records. Medical records of 269 dogs were reviewed, of which 149 (55%) had abdominal ultrasonography. The most frequent result was no ultrasonographic abnormalities affecting the intestine in 65 (44%) dogs. Ultrasonography results were associated with subsequent work-up as follows: (1) no detected abnormalities and dietary trial; (2) focal thickening of the intestinal wall, loss of intestinal wall layers or enlarged abdominal lymph nodes and ultrasound-guided fine-needle aspirates; (3) diffuse thickening of the intestinal wall or hyperechoic striations in the small intestinal mucosa and endoscopy; and (4) small intestinal foreign body and coeliotomy. Abdominal ultrasonography was considered to be diagnostic without further testing in only four (3%) dogs: two had a portosystemic shunt identified ultrasonographically, one had a linear foreign body and one had a perforated pyloric ulcer. Abdominal ultrasonography had moderate utility in 56 (38%) dogs and no utility in 79 (53%) dogs. Abdominal ultrasonography was considered counterproductive in 10 (7%) dogs because results were either falsely negative or falsely positive. These results should prompt clinicians to reconsider routine use of abdominal ultrasonography in dogs with diarrhoea. © 2017 British Small Animal Veterinary Association.
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Torricelli, Fabio Cesar Miranda; Marchini, Giovanni Scala; Colombo, Jose Roberto; Coelho, Rafael Ferreira; Nahas, Willian Carlos; Srougi, Miguel
2015-01-01
A 25-year-old hypertensive female patient was referred to our institution. Initial workup exams demonstrated a 2.8 cm cortical lower pole tumor in the right kidney. She underwent laparoscopic partial nephrectomy without complications. Histopathologic examination revealed a rare juxtaglomerular cell tumor known as reninoma. After surgery, she recovered uneventfully and all medications were withdrawn. Case hypothesis: Secondary arterial hypertension is a matter of great interest to urologists and nephrologists. Renovascular hypertension, primary hyperadosteronism and pheocromocytoma are potential diagnosis that must not be forgotten and should be excluded. Although rare, chronic pyelonephritis and renal tumors as rennin-producing tumors, nephroblastoma, hypernephroma, and renal cell carcinoma might also induce hypertension and should be in the diagnostic list of clinicians. Promising future implications: Approximately 5% of patients with high blood pressure have specific causes and medical investigation may usually identify such patients. Furthermore, these patients can be successfully treated and cured, most times by minimally invasive techniques. This interesting case might expand knowledge of physicians and aid better diagnostic care in future medical practice.
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New drugs and new toxicities: pembrolizumab-induced myocarditis.
Inayat, Faisal; Masab, Muhammad; Gupta, Sorab; Ullah, Waqas
2018-01-23
Pembrolizumab is an immune checkpoint inhibitor that significantly improves clinical outcomes in numerous solid organ malignancies. Despite successful therapeutic responses, this new drug comes with a constellation of adverse reactions. Herein, we chronicle the case of a patient with metastatic non-small-cell lung cancer treated with pembrolizumab. After two cycles, he developed new-onset dyspnoea on exertion. Electrocardiogram showed idioventricular rhythm with diffuse ST-segment elevations. Echocardiography revealed severe biventricular cardiac dysfunction. Based on diagnostic workup and exclusion of probable aetiologies, the patient was diagnosed with pembrolizumab-induced myocarditis. The treatment was initiated with corticosteroids and guideline-conform heart failure therapy. He demonstrated a marked clinical response with resolution of congestive heart failure symptoms. This article summarises the clinical evidence regarding the epidemiology, pathophysiology, clinical features, diagnostic modalities and management of patients with pembrolizumab-associated myocarditis. In addition, it highlights that programmed death receptor-1 inhibition can cause a spectrum of autoimmune adverse events requiring clinical monitoring and periodic screenings. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.
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Neuroimaging in adult penetrating brain injury: a guide for radiographers
DOE Office of Scientific and Technical Information (OSTI.GOV)
Temple, Nikki; Donald, Cortny; Skora, Amanda
Penetrating brain injuries (PBI) are a medical emergency, often resulting in complex damage and high mortality rates. Neuroimaging is essential to evaluate the location and extent of injuries, and to manage them accordingly. Currently, a myriad of imaging modalities are included in the diagnostic workup for adult PBI, including skull radiography, computed tomography (CT), magnetic resonance imaging (MRI) and angiography, with each modality providing their own particular benefits. This literature review explores the current modalities available for investigating PBI and aims to assist in decision making for the appropriate use of diagnostic imaging when presented with an adult PBI. Basedmore » on the current literature, the authors have developed an imaging pathway for adult penetrating brain injury that functions as both a learning tool and reference guide for radiographers and other health professionals. Currently, CT is recommended as the imaging modality of choice for the initial assessment of PBI patients, while MRI is important in the sub-acute setting where it aids prognosis prediction and rehabilitation planning, Additional follow-up imaging, such as angiography, should be dependent upon clinical findings.« less
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Cost-effectiveness of PET and PET/computed tomography: a systematic review.
Gerke, Oke; Hermansson, Ronnie; Hess, Søren; Schifter, Søren; Vach, Werner; Høilund-Carlsen, Poul Flemming
2015-01-01
The development of clinical diagnostic procedures comprises early-phase and late-phase studies to elucidate diagnostic accuracy and patient outcome. Economic assessments of new diagnostic procedures compared with established work-ups indicate additional cost for 1 additional unit of effectiveness measure by means of incremental cost-effectiveness ratios when considering the replacement of the standard regimen by a new diagnostic procedure. This article discusses economic assessments of PET and PET/computed tomography reported until mid-July 2014. Forty-seven studies on cancer and noncancer indications were identified but, because of the widely varying scope of the analyses, a substantial amount of work remains to be done. Copyright © 2015 Elsevier Inc. All rights reserved.
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Addeo, Pietro; Poncet, Gilles; Goichot, Bernard; Leclerc, Loic; Brigand, Cécile; Mutter, Didier; Romain, Benoit; Namer, Izzie-Jacques; Bachellier, Philippe; Imperiale, Alessio
2018-04-01
The precise localization of the primary tumor and/or the identification of multiple primary tumors improves the preoperative work-up in patients with small bowel (SB) neuroendocrine tumor (NET). The present study assesses the diagnostic value of 18 F-fluorodihydroxyphenylalanine ( 18 F-FDOPA) positron emission tomography/computed tomography (PET/CT) during the preoperative wok-up of SB NETs. Between January 2010 and June 2017, all consecutive patients with SB NETs undergoing preoperative 18 F-FDOPA PET/CT and successive resection were analyzed. Preoperative work-up included computed tomography (CT), somatostatin receptor scintigraphy (SRS), and 18 F-FDOPA PET/CT. Sensitivity and accuracy ratio for primary and multiple tumor detection were compared with data from surgery and pathology. There were 17 consecutive patients with SB NETs undergoing surgery. Nine patients (53%) had multiple tumors, 15 (88%) metastatic lymph nodes, 3 (18%) peritoneal carcinomatosis, and 9 patients (53%) liver metastases. A total of 70 SB NETs were found by pathology. Surgery identified the primary in 17/17 (100%) patients and recognized seven of 9 patients (78%) with multiple synchronous SB. Preoperatively, 18 F-FDOPA PET/CT displayed a statistically significant higher sensitivity for primary tumor localization (100 vs. 23.5 vs. 29.5%) and multiple tumor detection (78 vs. 22 vs. 11%) over SRS and CT. Compared with pathology, 18 F-FDOPA PET/CT displayed the highest accuracy ratio for number of tumor detected over CT and SRS (2.0 ± 2.2 vs. 0.4 ± 0.7 vs. 0.6 ± 1.5, p = 0.0003). 18 F-FDOPA PET/CT significantly increased the sensitivity and accuracy for primary and multiple SB NET identification. 18 F-FDOPA PET/CT should be included systematically in the preoperative work-up of SB NET.
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Tick-borne illness after transplantation: Case and review.
Mascarenhas, Tresa Reena; Silibovsky, Randi S; Singh, Pooja; Belden, Katherine A
2018-04-01
Tick-borne infections in solid organ transplant recipients are an infrequent and difficult diagnostic challenge owing to multiple routes of acquisition and unusual presentations. A 67-year-old male recipient of a combined liver and kidney transplant presented with recurrent fevers following surgery. Standard microbiologic workup was non-diagnostic. Shortness of breath, confusion, lethargy, and hypotension developed along with progressive anemia, requiring multiple blood transfusions. Workup suggested hemolysis and review of the peripheral smear was diagnostic for Babesia microti infection. Tick transmission, transmission via blood products, and/or the transplanted organ were all considered. More extensive questioning revealed a history of intermittent fevers for several months before transplantation. Testing of pre-transplant blood was positive for B. microti antibodies, suggesting infection prior to transplantation. The delayed diagnosis of babesiosis in this patient highlights the need for a detailed exposure history prior to transplantation, as well as considering the potential for atypical presentations of tick-borne infections in immune suppressed solid organ recipients. Furthermore, this case illustrates the importance of early Infectious Disease consultation to meet the challenges exhibited by febrile transplant patients. Infectious Diseases physicians are trained to consider, diagnose, and treat tick-borne infections, contributing to improved clinical outcome. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
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Imaging techniques used in the diagnostic workup of acute venous thromboembolic disease.
Tilve-Gómez, A; Rodríguez-Fernández, P; Trillo-Fandiño, L; Plasencia-Martínez, J M
Early diagnosis is one of the most important factors affecting the prognosis of pulmonary embolism (PE); however, the clinical presentation of PE is often very unspecific and it can simulate other diseases. For these reasons, imaging tests, especially computed tomography angiography (CTA) of the pulmonary arteries, have become the keystone in the diagnostic workup of PE. The wide availability and high diagnostic performance of pulmonary CTA has led to an increase in the number of examinations done and a consequent increase in the population's exposure to radiation and iodinated contrast material. Thus, other techniques such as scintigraphy and venous ultrasonography of the lower limbs, although less accurate, continue to be used in certain circumstances, and optimized protocols have been developed for CTA to reduce the dose of radiation (by decreasing the kilovoltage) and the dose of contrast agents. We describe the technical characteristics and interpretation of the findings for each imaging technique used to diagnose PE and discuss their advantages and limitations; this knowledge will help the best technique to be chosen for each case. Finally, we comment on some data about the increased use of CTA, its clinical repercussions, its "overuse", and doubts about its cost-effectiveness. Copyright © 2016 SERAM. Publicado por Elsevier España, S.L.U. All rights reserved.
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Schepisi, Monica Sañé; Gualano, Gina; Piselli, Pierluca; Mazza, Marta; D’Angelo, Donatella; Fasciani, Francesca; Barbieri, Alberto; Rocca, Giorgia; Gnolfo, Filippo; Olivani, Piefranco; Ferrarese, Maurizio; Codecasa, Luigi Ruffo; Palmieri, Fabrizio; Girardi, Enrico
2016-01-01
In Italy tuberculosis (TB) is largely concentrated in vulnerable groups such as migrants and in urban settings. We analyzed three TB case finding interventions conducted at primary centers and mobile clinics for regular/irregular immigrants and refugees/asylum seekers performed over a four-year period (November 2009-March 2014) at five different sites in Rome and one site in Milan, Italy. TB history and presence of symptoms suggestive of active TB were investigated by verbal screening through a structured questionnaire in migrants presenting for any medical condition to out-patient and mobile clinics. Individuals reporting TB history or symptoms were referred to a TB clinic for diagnostic workup. Among 6347 migrants enrolled, 891 (14.0%) reported TB history or symptoms suggestive of active TB and 546 (61.3%) were referred to the TB clinic. Of them, 254 (46.5%) did not present for diagnostic evaluation. TB was diagnosed in 11 individuals representing 0.17% of those screened and 3.76% of those evaluated. The overall yield of this intervention was in the range reported for other TB screening programs for migrants, although we recorded an unsatisfactory adherence to diagnostic workup. Possible advantages of this intervention include low cost and reduced burden of medical procedures for the screened population. PMID:27403270
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Alves, Gilberto Sousa; de Carvalho, Luiza de Amorim; Sudo, Felipe Kenji; Briand, Lucas; Laks, Jerson; Engelhardt, Eliasz
2017-01-01
ABSTRACT. The last decade has witnessed substantial progress in acquiring diagnostic biomarkers for the diagnostic workup of cerebrovascular disease (CVD). Advanced neuroimaging methods not only provide a strategic contribution for the differential diagnosis of vascular dementia (VaD) and vascular cognitive impairment (VCI), but also help elucidate the pathophysiological mechanisms ultimately leading to small vessel disease (SVD) throughout its course. Objective: In this review, the novel imaging methods, both structural and metabolic, were summarized and their impact on the diagnostic workup of age-related CVD was analysed. Methods: An electronic search between January 2010 and 2017 was carried out on PubMed/MEDLINE, Institute for Scientific Information Web of Knowledge and EMBASE. Results: The use of full functional multimodality in simultaneous Magnetic Resonance (MR)/Positron emission tomography (PET) may potentially improve the clinical characterization of VCI-VaD; for structural imaging, MRI at 3.0 T enables higher-resolution scanning with greater imaging matrices, thinner slices and more detail on the anatomical structure of vascular lesions. Conclusion: Although the importance of most of these techniques in the clinical setting has yet to be recognized, there is great expectancy in achieving earlier and more refined therapeutic interventions for the effective management of VCI-VaD. PMID:29354214
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Wormanns, D
2016-09-01
Pulmonary nodules are the most frequent pathological finding in low-dose computed tomography (CT) scanning for early detection of lung cancer. Early stages of lung cancer are often manifested as pulmonary nodules; however, the very commonly occurring small nodules are predominantly benign. These benign nodules are responsible for the high percentage of false positive test results in screening studies. Appropriate diagnostic algorithms are necessary to reduce false positive screening results and to improve the specificity of lung cancer screening. Such algorithms are based on some of the basic principles comprehensively described in this article. Firstly, the diameter of nodules allows a differentiation between large (>8 mm) probably malignant and small (<8 mm) probably benign nodules. Secondly, some morphological features of pulmonary nodules in CT can prove their benign nature. Thirdly, growth of small nodules is the best non-invasive predictor of malignancy and is utilized as a trigger for further diagnostic work-up. Non-invasive testing using positron emission tomography (PET) and contrast enhancement as well as invasive diagnostic tests (e.g. various procedures for cytological and histological diagnostics) are briefly described in this article. Different nodule morphology using CT (e.g. solid and semisolid nodules) is associated with different biological behavior and different algorithms for follow-up are required. Currently, no obligatory algorithm is available in German-speaking countries for the management of pulmonary nodules, which reflects the current state of knowledge. The main features of some international and American recommendations are briefly presented in this article from which conclusions for the daily clinical use are derived.
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Concurrent BRAF and PTEN mutations in melanoma of unknown origin presenting as a breast mass
Agosto-Arroyo, Emmanuel; Rosa, Marilin; Chau, Alec; Khazai, Laila
2017-01-01
Background: Metastases represent a small percentage of the malignancies affecting the breast, and only 5% of melanomas originate from non-cutaneous sites. Multiple genetic aberrations have been associated with the development of melanocytic lesions, including BRAF V600E mutation. Mutations in PTEN gene have also been related to the pathogenesis of multiple malignancies. Purpose/Method: This is the case of a 28-year-old female who presented with a tender, palpable mass in the upper outer quadrant of the right breast. Ultrasound showed a 1-cm solid mass, initially diagnosed as invasive ductal carcinoma on biopsy. During pre-operative workup, a second mass was identified and biopsied. Immunohistochemical stains performed on the second mass biopsy demonstrated that the neoplastic cells were positive for cytokeratin AE1/3, pan-melanoma, tyrosinase, and SOX-10 and negative for CK7, CAM5.2, and GATA-3. Subsequent workup showed widespread metastatic disease involving the liver, lungs, bones, and brain. The brain metastasis tested positive for BRAF p.V600E and PTEN p.R130Efs*4 mutations. Thorough skin and eye examination did not reveal a primary melanoma. Conclusion: Only few reports have been published of melanoma presenting as a breast mass. This is an interesting case due to the clinical presentation, diagnostic challenges, and genetic mutations profile. PMID:28607685
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Adams, Zachary; Morris, Gail; Campbell, Todd; Mostert, Karen; Dibdin, Nicholas; Fearon, Margaret; Elmoazzen, Heidi; Mercer, Dena; Young, Kimberly; Allan, David
2018-04-01
Zika virus has emerged as a potential threat to the Canadian blood supply system. Stem cell donors within Canadian Blood Services' Cord Blood Bank (CBB) and OneMatch Stem Cell and Marrow Network (OM) now undergo screening measures designed to reduce the risk of Zika virus transmission. The impact these screening measures have on cord blood and unrelated adult stem cell donations is currently unknown. Among 146 donor workups initiated by OM between July 2016 and May 2017, 102 were completed and 44 workups were canceled. There were 17 potential donors (11.6%) with a risk of Zika virus exposure identified by the donor questionnaire (13 completed, 4 canceled workups). None of the workups involved a donor diagnosed with confirmed Zika virus within the past 6 months. Only 1 of the 44 canceled workups (and only 1 of 4 cases with a risk of Zika transmission) was canceled because of the risk of Zika transmission, and a backup donor was selected. Canadian Blood Services' CBB identified 25 of 875 cord blood units (2.9%) from women who donated their infants' cord blood and underwent screening that otherwise met the initial cell number thresholds for banking and had at least 1 risk factor for exposure to Zika virus. No women were diagnosed with Zika virus at any point of their pregnancy. All 25 units were discarded. Unrelated donors at OM have a higher incidence of a risk of exposure to Zika virus compared with cord blood donors. Only rarely did transplant centers cancel donor workups due to potential Zika virus exposure. The impact of screening for Zika virus exposure risk on cord blood banking was minor. Continued vigilance and surveillance is recommended. Copyright © 2017 The American Society for Blood and Marrow Transplantation. Published by Elsevier Inc. All rights reserved.
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Ultrasound elastography in diagnosis and follow-up for patients with chronic recurrent parotitis.
Zengel, Pamela; Reichel, Christoph Andreas; Vincek, Teresa; Clevert, Dirk André
2017-01-01
Chronic recurrent parotitis (CRP) is a non-obstructive disease with episodes characterized by painful swelling of the parotid gland. It presents in both a juvenile and an adult form, with no clear information on its actual origin. Diagnosis is based on patient medical history and ultrasound examination but is frequently not correctly identified. Acoustic Radiation Force Impulse Imaging (ARFI) is a novel ultrasound elastography technology that has recently been implemented in the diagnostic work-up of patients with malignancies. This study aimed to answer whether ARFI can reasonably be employed in the initial examination and follow-up during therapy in patients with CRP. Mechanical tissue properties of the salivary glands were analyzed by ARFI in 37 parotid glands of patients with CRP. Having integrated ARFI into our diagnostic protocol for CRP, affected parotid glands were found to exhibit lower tissue elasticity compared to both healthy contralateral glands in the same individuals as well as those of healthy individuals. Most importantly, this method enabled us to quantitatively assess the patient benefit of therapy regarding the recovery of the glands' diseased parenchyma. ARFI provides a quick, easy, and reliable diagnostic tool for the assessment of disease severity and progression in patients with CRP that can be seamlessly implemented into preexisting ultrasound protocols.
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Hypogonadism in a patient with mild hereditary haemochromatosis.
Wlazlo, N; Peters, W; Bravenboer, B
2012-09-01
Hypogonadism is a potential complication of haemochromatosis, usually seen in patients with severe iron overload and liver cirrhosis. We describe the diagnostic workup of a patient with an early stage of hereditary haemochromatosis, presenting with only mildly elevated liver enzymes and central hypogonadism in the absence of cirrhosis or diabetes, but with concurrent sarcoidosis.
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Diagnosis of pheochromocytoma in the setting of Parkinson disease.
Mehta, Shyamal H; Prakash, Rajan; Prisant, L Michael; Isales, Carlos M; Morgan, John C; Williams, Hadyn; Sethi, Kapil D
2009-06-01
A 59-year-old man with a 7-year history of Parkinson disease (PD) presented with episodes of sudden, severe headaches with neck pain, tachycardia, sweating and pallor. During these episodes, the patient showed marked elevations in blood pressure, regardless of posture. This was unusual, given that he had no prior history of hypertension. The array of symptoms raised suspicions of pheochromocytoma, but diagnosis was challenging, as the standard diagnostic biochemical tests were confounded by dopaminergic medications. Further work-up revealed left adrenal medullary hyperplasia. Several reports exist of pseudopheochromocytoma in patients on dopaminergic therapy, but this is the first documented case of pheochromocytoma syndrome due to adrenal medullary hyperplasia in a patient with PD. This case highlights the challenges of performing a diagnostic work-up in a PD patient with symptoms suggestive of pheochromocytoma, and illustrates the utility of (123)I-metaiodobenzylguanidine ((123)I-MIBG) single-photon emission CT in making a diagnosis.Investigations. Physical examination, laboratory tests, abdominal MRI scan, abdominal (123)I-MIBG scan, abdominal (18)F-fluorodeoxyglucose PET scan. Pheochromocytoma syndrome due to adrenal medullary hyperplasia.Management. Surgical excision of the left adrenal gland.
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Takotsubo cardiomyopathy: an overlooked cause of chest pain
Tomazelli, Bruno; Furieri, Natassia Prates; Coelho, Renato Alves; de Lima, Camila Fiorese
2014-01-01
Takotsubo cardiomyopathy (TTC), also known as apical ballooning syndrome, broken heart syndrome, or stress-induced cardiomyopathy, is defined as a transient disturbance of the left ventricle, which is quite often associated with electrocardiographic abnormalities that may mimic acute myocardial infarction. The syndrome is also characterized by a mild alteration of cardiac biomarkers in absence of coronary blood flow obstruction on the coronariography. Clinical presentation is often manifested by angina, dyspnea, syncope, and arrhythmias. Peculiarly, the left ventricle takes the form of “tako-tsubo” (a Japanese word for “octopus trap”) on the imaging workup. The authors report the case of a post-menopausal, hypertensive, dyslipidemic and type-II diabetic woman admitted at the emergency service with acute chest pain post physical exertion. Electrocardiogram showed signs of ischemia and myocardial necrosis markers were mildly increased. Echocardiography and ventriculography showed apical and mid-ventricular akinesia, with mild atherosclerotic coronary lesions. Thus diagnostic workup and the outcome followed the diagnostic criteria for TTC. The authors called attention to the potential of overlooking this diagnosis, since this syndrome is still not widely recognized. PMID:28580329
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IAC Standardized Reporting of Breast Fine-Needle Aspiration Biopsy Cytology.
Field, Andrew S; Schmitt, Fernando; Vielh, Philippe
2017-01-01
There have been many changes in the roles of fine-needle aspiration biopsy (FNAB) and core needle biopsy (CNB) in the diagnostic workup of breast lesions in routine breast clinics and in mammographic breast screening programs, as well as changes in the management algorithms utilized and the treatments available, since the NCI consensus on breast FNAB cytology in 1996. A standardized approach will improve training and performance of FNAB and smear-making techniques, and structured reporting will improve the quality and reproducibility of reports across departments, cities and countries providing a basis for quality assurance measures and improving patient care and facilitating research. Linking cytology reports to management algorithms will increase the clinicians' use of FNAB cytology and where appropriate CNB, and enhance the use of ancillary tests for prognostic testing. The IAC recognizes that the local medical infrastructure and resources for breast imaging, biopsy and treatment will influence the diagnostic workup and management of breast disease, but best practice guidelines should be established and modified as required. © 2016 S. Karger AG, Basel.
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Hb Adana (HBA2 or HBA1: c.179G > A) and alpha thalassemia: Genotype-phenotype correlation.
Singh, Sharon A; Sarangi, Susmita; Appiah-Kubi, Abena; Hsu, Peihong; Smith, W Byron; Gallagher, Patrick G; Glader, Bertil; Chui, David H K
2018-05-11
Alpha thalassemia due to nondeletional mutations usually leads to more severe disease than that caused by deletional mutations. Devastating outcomes such as hydrops fetalis can occur with two nondeletional mutations, therefore warranting DNA-based workup for suspected carriers with subtle hematological abnormalities for family counseling purposes. We describe three cases with hemoglobin (Hb) Adana, a nondeletional alpha chain mutation, compounded with an alpha globin gene deletion resulting in thalassemia intermedia. We review the literature, draw genotype-phenotype correlations from published cases of Hb Adana, and propose that this correlation can be used by clinicians to help direct diagnostic studies and urge hematologists to thoroughly workup high-risk patients. © 2018 Wiley Periodicals, Inc.
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Fever of unknown origin (FUO): CMV infectious mononucleosis or lymphoma?
Cunha, Burke A; Chawla, Karishma
2018-07-01
Fever of unknown origin (FUO) refers to fevers of > 101 °F that persist for > 3 weeks and remain undiagnosed after a focused inpatient or outpatient workup. FUO may be due to infectious, malignant/neoplastic, rheumatic/inflammatory, or miscellaneous disorders. The FUO category determines the focus of the diagnostic workup. In the case presented of an FUO in a young woman, there were clinical findings of both CMV infectious mononucleosis or a lymphoma, e.g., highly elevated ESR, elevated ferritin levels, and elevated ACE level, β-2 microglobulins. The indium scan showed intense splenic uptake. Lymph node biopsy, PET scan, and flow cytometry were negative for lymphoma. CMV infectious mononucleosis was the diagnosis, and she made a slow recovery.
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Miglioretti, Diana L.; Lange, Jane; van den Broek, Jeroen J.; Lee, Christoph I.; van Ravesteyn, Nicolien T.; Ritley, Dominique; Kerlikowske, Karla; Fenton, Joshua J.; Melnikow, Joy; de Koning, Harry J.; Hubbard, Rebecca A.
2016-01-01
Background Estimates of radiation-induced breast cancer risk from mammography screening have not previously considered dose exposure variation or diagnostic work-up after abnormal screening. Objective To estimate distributions of radiation-induced breast cancer incidence and mortality from digital mammography screening, considering exposure from screening and diagnostic mammography and dose variation across women. Design Two simulation-modeling approaches using common data on screening mammography from the Breast Cancer Surveillance Consortium and radiation dose from mammography from the Digital Mammographic Imaging Screening Trial. Setting U.S. population. Patients Women aged 40–74 years. Interventions Annual or biennial digital mammography screening from age 40, 45, or 50 until 74. Measurements Lifetime breast cancer deaths averted (benefits) and radiation-induced breast cancer incidence and mortality per 100,000 women screened (harms). Results On average, annual screening of 100,000 women aged 40 to 74 years was projected to induce 125 breast cancers (95% confidence interval [CI]=88–178) leading to 16 deaths (95% CI=11–23) relative to 968 breast cancer deaths averted by early detection from screening. Women exposed at the 95th percentile were projected to develop 246 radiation-induced breast cancers leading to 32 deaths per 100,000 women. Women with large breasts requiring extra views for complete breast examination (8% of population) were projected to have higher radiation-induced breast cancer incidence and mortality (266 cancers, 35 deaths per 100,000 women), compared to women with small or average breasts (113 cancers, 15 deaths per 100,000 women). Biennial screening starting at age 50 reduced risk of radiation-induced cancers 5-fold. Limitations We were unable to estimate years of life lost from radiation-induced breast cancer. Conclusions Radiation-induced breast cancer incidence and mortality from digital mammography screening are impacted by dose variability from screening and resultant diagnostic work-up, initiation age, and screening frequency. Women with large breasts may be at higher risk of radiation-induced breast cancer; however, the benefits of screening outweigh these risks. PMID:26756460
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Pleural tuberculosis: medical thoracoscopy greatly increases the diagnostic accuracy
Mori, Pier Anselmo; Majori, Maria; Anghinolfi, Miriam; Silini, Enrico Maria; Gnetti, Letizia; Motta, Federica; Larini, Sandra; Montecchini, Sara; Pisi, Roberta; Calderaro, Adriana
2018-01-01
Our objective was to evaluate the efficacy of a standardised work-up in the diagnosis of pleural tuberculosis (TB) that included fibreoptic bronchoscopy and medical thoracoscopy. A consecutive series of 52 pleural TB patients observed during the period 2001–2015 was evaluated retrospectively. 20 females, mean (range) age 39.7 (18–74) years, and 32 males, mean (range) age 45.75 (21–83) years, were included (28 non-EU citizens (53.8%)). The diagnosis of TB infections was established by identification (using stains, culture or molecular tests) of Mycobacterium tuberculosis in the pleura, sputum and/or bronchial specimens, or by evidence of caseous granulomas on pleural biopsies. Patients with and without lung lesions were considered separately. The diagnostic yield of the microbiological tests on pleural fluid was 17.3% (nine out of 52 patients). Among the 18 patients with lung lesions, bronchial samples (washing, lavage or biopsy) were positive in 50% of cases (nine patients). Cultures of pleural biopsies were positive in 63% of cases (29 out of 46 patients); pleural histology was relevant in all patients. Without pleural biopsy, a diagnosis would have been reached in 15 out of 52 patients (28.6%) and in four of them only following culture at 30–40 days. An integrated diagnostic work-up that includes all the diagnostic methods of interventional pulmonology is required for a diagnosis of pleural TB. In the majority of patients, a diagnosis can be reached only with pleural biopsy. PMID:29318136
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Diagnostic approach to cardiac amyloidosis: A case report.
Fernandes, Andreia; Caetano, Francisca; Almeida, Inês; Paiva, Luís; Gomes, Pedro; Mota, Paula; Trigo, Joana; Botelho, Ana; Cachulo, Maria do Carmo; Alves, Joana; Francisco, Luís; Leitão Marques, António
2016-05-01
The authors present a case of systemic amyloidosis with cardiac involvement. We discuss the need for a high level of suspicion to establish a diagnosis, diagnostic techniques and treatment options. Our patient was a 78-year-old man with chronic renal disease and atrial fibrillation admitted with acute decompensated heart failure of unknown cause. The transthoracic echocardiogram revealed severely impaired left ventricular function with phenotypic overlap between hypertrophic and restrictive cardiomyopathy. After an extensive diagnostic workup, which included an abdominal fat pad biopsy, the final diagnosis was amyloidosis. Copyright © 2016 Sociedade Portuguesa de Cardiologia. Published by Elsevier España. All rights reserved.
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Popescu, F; Jaslow, C R; Kutteh, W H
2018-04-01
Will the addition of 24-chromosome microarray analysis on miscarriage tissue combined with the standard American Society for Reproductive Medicine (ASRM) evaluation for recurrent miscarriage explain most losses? Over 90% of patients with recurrent pregnancy loss (RPL) will have a probable or definitive cause identified when combining genetic testing on miscarriage tissue with the standard ASRM evaluation for recurrent miscarriage. RPL is estimated to occur in 2-4% of reproductive age couples. A probable cause can be identified in approximately 50% of patients after an ASRM recommended workup including an evaluation for parental chromosomal abnormalities, congenital and acquired uterine anomalies, endocrine imbalances and autoimmune factors including antiphospholipid syndrome. Single-center, prospective cohort study that included 100 patients seen in a private RPL clinic from 2014 to 2017. All 100 women had two or more pregnancy losses, a complete evaluation for RPL as defined by the ASRM, and miscarriage tissue evaluated by 24-chromosome microarray analysis after their second or subsequent miscarriage. Frequencies of abnormal results for evidence-based diagnostic tests considered definite or probable causes of RPL (karyotyping for parental chromosomal abnormalities, and 24-chromosome microarray evaluation for products of conception (POC); pelvic sonohysterography, hysterosalpingogram, or hysteroscopy for uterine anomalies; immunological tests for lupus anticoagulant and anticardiolipin antibodies; and blood tests for thyroid stimulating hormone (TSH), prolactin and hemoglobin A1c) were evaluated. We excluded cases where there was maternal cell contamination of the miscarriage tissue or if the ASRM evaluation was incomplete. A cost analysis for the evaluation of RPL was conducted to determine whether a proposed procedure of 24-chromome microarray evaluation followed by an ASRM RPL workup (for those RPL patients who had a normal 24-chromosome microarray evaluation) was more cost-efficient than conducting ASRM RPL workups on RPL patients followed by 24-chromosome microarray analysis (for those RPL patients who had a normal RPL workup). A definite or probable cause of pregnancy loss was identified in the vast majority (95/100; 95%) of RPL patients when a 24-chromosome pair microarray evaluation of POC testing is combined with the standard ASRM RPL workup evaluation at the time of the second or subsequent loss. The ASRM RPL workup identified an abnormality and a probable explanation for pregnancy loss in only 45/100 or 45% of all patients. A definite abnormality was identified in 67/100 patients or 67% when initial testing was performed using 24-chromosome microarray analyses on the miscarriage tissue. Only 5/100 (5%) patients, who had a euploid loss and a normal ASRM RPL workup, had a pregnancy loss without a probable or definitive cause identified. All other losses were explained by an abnormal 24-chromosome microarray analysis of the miscarriage tissue, an abnormal finding of the RPL workup, or a combination of both. Results from the cost analysis indicated that an initial approach of using a 24-chromosome microarray analysis on miscarriage tissue resulted in a 50% savings in cost to the health care system and to the patient. This is a single-center study on a small group of well-characterized women with RPL. There was an incomplete follow-up on subsequent pregnancy outcomes after evaluation, however this should not affect our principal results. The maternal age of patients varied from 26 to 45 years old. More aneuploid pregnancy losses would be expected in older women, particularly over the age of 35 years old. Evaluation of POC using 24-chromosome microarray analysis adds significantly to the ASRM recommended evaluation of RPL. Genetic evaluation on miscarriage tissue obtained at the time of the second and subsequent pregnancy losses should be offered to all couples with two or more consecutive pregnancy losses. The combination of a genetic evaluation on miscarriage tissue with an evidence-based evaluation for RPL will identify a probable or definitive cause in over 90% of miscarriages. No funding was received for this study and there are no conflicts of interest to declare. Not applicable.
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Wiersinga, W J; Bonten, M J; Boersma, W G; Jonkers, R E; Aleva, R M; Kullberg, B J; Schouten, J A; Degener, J E; Janknegt, R; Verheij, T J; Sachs, A P E; Prins, J M
2012-03-01
The Dutch Working Party on Antibiotic Policy (SWAB) and the Dutch Association of Chest Physicians (NVALT) convened a joint committee to develop evidence-based guidelines on the diagnosis and treatment of community acquired pneumonia (CAP). The guidelines are intended for adult patients with CAP who present at the hospital and are treated as outpatients as well as for hospitalised patients up to 72 hours after admission. Areas covered include current patterns of epidemiology and antibiotic resistance of causative agents of CAP in the Netherlands, the possibility to predict the causative agent of CAP on the basis of clinical data at first presentation, risk factors associated with specific pathogens, the importance of the severity of disease upon presentation for choice of initial treatment, the role of rapid diagnostic tests in treatment decisions, the optimal initial empiric treatment and treatment when a specific pathogen has been identified, the timeframe in which the first dose of antibiotics should be given, optimal duration of antibiotic treatment and antibiotic switch from the intravenous to the oral route. Additional recommendations are made on the role of radiological investigations in the diagnostic work-up of patients with a clinical suspicion of CAP, on the potential benefit of adjunctive immunotherapy, and on the policy for patients with parapneumonic effusions.
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Mandigers, Paul J J; Duijvestijn, Mirjam B H M; Ankringa, Nynke; Maes, Sofie; van Essen, Elise; Schoormans, Anky H W; German, Alexander J; Houwers, Dirk J
2014-08-06
This study surveyed the prevalence of massive numbers of Cyniclomyces guttulatus in faecal samples from healthy dogs (18%) and dogs with chronic diarrhoea (14%) suggesting that this yeast has no clinical significance. Subsequently, a total of 57 referred dogs with chronic diarrhoea were selected because they excreted massive numbers of C. guttulatus and their initial diagnostic work-up yielded no other direct clues explaining their diarrhoea. Treatment with nystatin did not result in any clinical response in 36 out of these 57 dogs (63%), although they no longer shed the yeast. However, a response was noted in the remaining 21 (37%) dogs: 13 were 'responders', in that their diarrhoea subsided for more than two weeks and the faeces were cleared of the yeast. However, three of these dogs relapsed repeatedly, with signs of diarrhoea and massive shedding of the yeast. The other eight dogs were 'incomplete responders', whereby faecal quality initially normalised, but diarrhoea relapsed within two weeks, whilst still not shedding the yeast. In these cases, further diagnostic work up revealed other co-causes of diarrhoea. It was concluded that there was no direct evidence that C. guttulatus is a primary pathogen. However, the results of the prospective treatment study suggest that a possible role in a minority of cases, perhaps as an opportunist, cannot be ruled out. Copyright © 2014 Elsevier B.V. All rights reserved.
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Maiolino, Giuseppe; Rossitto, Giacomo; Bisogni, Valeria; Cesari, Maurizio; Seccia, Teresa Maria; Plebani, Mario; Rossi, Gian Paolo
2017-05-21
Current guidelines recommend use of the aldosterone-renin ratio (ARR) for the case detection of primary aldosteronism followed by confirmatory tests to exclude false-positive results from further diagnostic workup. We investigated the hypothesis that this could be unnecessary in patients with a high ARR value if the quantitative information carried by the ARR is taken into due consideration. We interrogated 2 large data sets of prospectively collected patients studied with the same predefined protocol, which included the captopril challenge test. We used an unambiguous diagnosis of aldosterone-producing adenoma as reference index. We also assessed whether the post-captopril ARR and plasma aldosterone concentration fall furnished a diagnostic gain over baseline ARR values. We found that the false-positive rate fell exponentially, and, conversely, the specificity increased with rising ARR values. At receiver operating characteristics curves and diagnostic odds ratio analysis, the high baseline ARR values implied very high positive likelihood ratio and diagnostic odds ratio values. The baseline and post-captopril ARR showed similar diagnostic accuracy (area under the receiver operating characteristics curve) in both the exploratory and validation cohorts, indicating lack of diagnostic gain with this confirmatory test (between-area under the curve difference, 0.005; 95% CI, -0.031 to 0.040; P =0.7 for comparison, and 0.05; 95% CI, -0.061 to 0.064; P =0.051 for comparison, respectively). These results indicate that the ARR conveys key quantitative information that, if properly used, can simplify the diagnostic workup, resulting in saving of money and resources. This can offer the chance of diagnosis and ensuing adrenalectomy to a larger number of hypertensive patients, ultimately resulting in better control of blood pressure. © 2017 The Authors. Published on behalf of the American Heart Association, Inc., by Wiley.
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Locati, E T; Moya, A; Oliveira, M; Tanner, H; Willems, R; Lunati, M; Brignole, M
2016-08-01
SYNARR-Flash study (Monitoring of SYNcopes and/or sustained palpitations of suspected ARRhythmic origin) is an international, multicentre, observational, prospective trial designed to evaluate the role of external 4-week electrocardiogram (ECG) monitoring in clinical work-up of unexplained syncope and/or sustained palpitations of suspected arrhythmic origin. Consecutive patients were enrolled within 1 month after unexplained syncope or palpitations (index event) after being discharged from emergency room or hospitalization without a conclusive diagnosis. A 4-week ECG monitoring was obtained by external high-capacity loop recorder (SpiderFlash-T(®), Sorin) storing patient-activated and auto-triggered tracings. Diagnostic monitorings included (i) conclusive events with reoccurrence of syncope or palpitation with concomitant ECG recording (with/without arrhythmias) and (ii) events with asymptomatic predefined significant arrhythmias (sustained supraventricular or ventricular tachycardia, advanced atrio-ventricular block, sinus bradycardia <30 b.p.m., pauses >6 s). SYNARR-Flash study enrolled 395 patients (57.7% females, 56.9 ± 18.7 years, 28.1% with syncope, and 71.9% with palpitations) from 10 European centres. For syncope, the 4-week diagnostic yield was 24.5%, and predictors of diagnostic events were early start of recording (0-15 vs. >15 days after index event) (OR 6.2, 95% CI 1.3-29.6, P = 0.021) and previous history of supraventricular arrhythmias (OR 3.6, 95% CI 1.4-9.7, P = 0.018). For palpitations, the 4-week diagnostic yield was 71.6% and predictors of diagnostic events were history of recurrent palpitations (P < 0.001) and early start of recording (P = 0.001). The 4-week external ECG monitoring can be considered as first-line tool in the diagnostic work-up of syncope and palpitation. Early recorder use, history of supraventricular arrhythmia, and frequent previous events increased the likelihood of diagnostic events during the 4-week external ECG monitoring. © The Author 2015. Published by Oxford University Press on behalf of the European Society of Cardiology.
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Shetty, Umesh; Phillips, Mark; Francis, Joshua R; Walsh, Mark
2015-10-01
Human infection with Australian bat lyssavirus is extremely rare. Here we present the craniospinal findings in a fatal case of Australian bat lyssavirus infection in an 8-year-old child. MRI plays a very important role, not only in the diagnostic work-up of Australian bat lyssavirus infection but also in the prognostic assessment.
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Griffo, Raffaele; Spanevello, Antonio; Temporelli, Pier Luigi; Faggiano, Pompilio; Carones, Mauro; Magni, Giovanna; Ambrosino, Nicolino; Tavazzi, Luigi
2014-03-01
Chronic heart failure (CHF) and chronic obstructive pulmonary disease (COPD) are leading causes of morbidity and mortality worldwide. Through shared risk factors and pathophysiological mechanisms, CHF and COPD frequently coexist. The concurrent disease has important therapeutic implications and independently predicts worsened mortality, impaired functional status, and health service use. However, assessment of the comorbidity varies widely according to the population studied, diagnostic criteria and measurement tools applied. Both syndromes have been studied extensively but largely separately, mostly in the domain of the pulmonologist for COPD and in the domain of the cardiologist for CHF. The aim of the study is to evaluate in an Italian outpatients setting (10 cardiology and 10 pulmonology centers from the same institution) the prevalence, clinical profile and the routine diagnostic, functional and therapeutic work-up applied by cardiologists and pulmonologists in the presence/suspicion of concurrent disease in patients in a stable phase of their disease. For this purpose, CHF and COPU outpatients will be enrolled in a multicenter, nationwide, prospective observational study. Risk estimation of comorbidity will be based on suspected, documented or patient-reported diagnosis of COPD/CHF. In the absence of documented concurrent diagnosis, each specialist will describe the diagnostic, functional and therapeutic work-up applied. The design of the study focused on the diagnostic validation of the CHF-COPD comorbidity aims to provide relevant new information on the assessment of the coexistent condition in the cardiac and pulmonary outpatients setting and on specialty-related different diagnostic and therapeutic strategies of comorbidity utilized in real life clinical practice. The symptomatic and prognostic benefits resulting from a combined approach to CHF/COPD could outweigh those attainable by treating either condition alone.
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Role of MRA in the detection of intracranial aneurysm in the acute phase of subarachnoid hemorrhage.
Pierot, Laurent; Portefaix, Christophe; Rodriguez-Régent, Christine; Gallas, Sophie; Meder, Jean-François; Oppenheim, Catherine
2013-07-01
Magnetic resonance angiography (MRA) has been evaluated for the detection of unruptured intracranial aneurysms with favorable results at 3 Tesla (3T) and with similar diagnostic accuracy as both 3D time-of-flight (3D-TOF) and contrast-enhanced (CE-MRA) MRA. However, the diagnostic value and place of MRA in the detection of ruptured aneurysms has been little evaluated. Thus, the goal of this prospective single-center series was to assess the feasibility and diagnostic value of 3T 3D-TOF MRA and CE-MRA for aneurysm detection in acute non-traumatic subarachnoid hemorrhage (SAH). From March 2006 to December 2007, all consecutive patients admitted to our hospital with acute non-traumatic SAH (≤10 days) were prospectively included in this study evaluating MRA in the diagnostic workup of SAH. Feasibility of MRA and sensitivity/specificity of 3D-TOF and CE-MRA were assessed compared with gold standard DSA. In all, 84 consecutive patients (45 women, 39 men; age 23-86 years) were included. The feasibility of MRA was low (43/84, 51.2%). The reasons given for patients not undergoing magnetic resonance imaging (MRI) examination were clinical status (27 patients), potential delay in aneurysm treatment (11 patients) and contraindications to MRI (three patients). In patients explored by MRA, the sensitivity of CE-MRA (95%) was higher compared with 3D-TOF (86%) with similar specificity (80%). Also, 3D-TOF missed five aneurysms while CE-MRA missed two. The value of MRA in the diagnostic workup of ruptured aneurysms is limited due to its low feasibility during the acute phase of bleeding. Sensitivity for aneurysm detection was good for both MRA techniques, but tended to be better with CE-MRA. Copyright © 2013. Published by Elsevier Masson SAS.
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Lodewijk, Lutske; Vriens, Menno R; Vorselaars, Wessel M C M; van der Meij, Nick T M; Kist, Jakob W; Barentsz, Maarten W; Verkooijen, Helena M; Rinkes, Inne H M Borel; Valk, Gerlof D
2016-05-01
The time between the moment of referral for the diagnostic workup for thyroid nodules and the outcome can be worrisome for patients. In general, patients experience high levels of anxiety during the evaluation of a lesion suspicious for cancer. Therefore, the implementation of same-day fine-needle aspiration cytology (FNAC) diagnosis is becoming standard-of-care for many solid tumors. Our aim was to assess the feasibility of same-day FNAC diagnosis for thyroid nodules and to assess patient anxiety during the diagnostic process. For feasibility of same-day FNAC diagnosis, we assessed the proportion of patients receiving a diagnosis at the end of the visit. Accuracy was measured by comparing histology with the FNAC result. Patient anxiety was measured by the State Trait Anxiety Inventory at 6 moments during the diagnostic workup. Of the 131 included patients, 112 (86%) were female, and the mean age was 53 years. All patients, except those with a nondiagnostic FNAC result (n = 26; 20%), had a diagnosis at the end of the day. There were only two discordant results. Anxiety levels at the beginning of the day were high throughout the group, State Trait Anxiety Inventory (STAI) score 43.1 (SD 2.0) and decreased significantly more in patients with a benign FNAC result (STAI score 30.2), compared to patients with a malignant or indeterminate result (STAI score 39.6). Distress of patients with a thyroid nodule undergoing same-day FNAC diagnostics was high. Same-day FNAC diagnosis is feasible and accurate for the evaluation of thyroid nodules. Therefore, same-day FNAC diagnosis seems a safer, more patient-friendly approach to diagnose thyroid nodules.
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Hernán-Martínez, José; Uzcategui, María; Corder, Eric; Castillo, Manuel; Sostre, Samuel; Alicea, Luz
2010-03-01
The prevalence of concomitant thyroid carcinoma with Grave's disease has been reported to range from 0 to 10%. Many controversies exist in the literature regarding the diagnostic workup and management in these types of patients. We are reporting a case of a 31 year old woman who had Graves' disease, a palpable thyroid nodule, and results from a thyroid scan revealed a "hot" nodule. Interestingly, an ultrasound guided FNA of the "hot" nodule showed papillary thyroid microcarcinoma. Finally, a total thyroidectomy showed multilobar tumor involvement. The diagnostic tools employed to establish the proper management strategy for this patient were based on data in the literature that is full of discrepancies. The fact that Grave's disease occurs concomitantly with thyroid cancer, specifically the papillary type, is an indisputably rare combination. One rare feature on our clinical case was the reported malignancy of a papillary carcinoma within a "hot" nodule which usually is much less that 1%. Many studies describe an increasing incidence of Grave's disease patients with concomitant papillary thyroid carcinoma. One possible explanation for these findings could be improvements in medical technology of screening tools. We propose that, thyroid ultrasonography should be integrated in the diagnostic workup in patients presenting with Graves' disease, especially in those presenting with palpable nodules. Fine needle biopsy should not be restricted to cold nodules.
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Paraneoplastic syndromes: detection of malignant tumors using [(18)F]FDG-PET.
Berner, U; Menzel, C; Rinne, D; Kriener, S; Hamscho, N; Döbert, N; Diehl, M; Kaufmann, R; Grünwald, F
2003-06-01
Paraneoplastic syndromes (PS) comprise a variety of clinical symptoms and diseases associated with underlying malignancy. Differentiation towards benign autoimmune diseases is necessary due to different therapeutic options. This diagnostic challenge includes cost- and time-consuming methods and is not successful in many cases. The aim of this study was the evaluation of [(18)F]fluorodeoxyglucose positron emission tomography ([(18)F]FDG-PET) for detecting or ruling out malignancy in these patients. In this retrospective work-up a total of 30 patients with suspected PS (m:f = 17:13, mean age 55, range 22-76 years) were examined with [(18)F]FDG-PET between 1996 and 2001. Diagnoses were erythrodermia, cerebellar degeneration, dermatomyositis, polyneuropathia and others. PET scans were compared to histopathological (n=14), radiological and follow up data (mean follow up 3.6 years, range 1-6 years). In 7 out of 30 patients (23%) an underlying malignancy was detected. Six out of 7 malignant neoplasms showed a distinctly increased glucose consumption. One benign neoplasm caused increased tracer uptake, another PET positive patient refused biopsy and showed no growth of a malignant tumour during clinical follow up of 28 months. The remaining 21 patients without suspicious glucose consumption did not demonstrate a malignancy in other diagnostic modalities or during subsequent clinical follow-up. [(18)F]FDG-PET seems to be a useful tool in the diagnostic work-up of patients with suspected paraneoplastic syndrome.
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Goedee, H S; Jongbloed, B A; van Asseldonk, J-T H; Hendrikse, J; Vrancken, A F J E; Franssen, H; Nikolakopoulos, S; Visser, L H; van der Pol, W L; van den Berg, L H
2017-10-01
To compare the performance of neuroimaging techniques, i.e. high-resolution ultrasound (HRUS) and magnetic resonance imaging (MRI), when applied to the brachial plexus, as part of the diagnostic work-up of chronic inflammatory demyelinating neuropathy (CIDP) and multifocal motor neuropathy (MMN). Fifty-one incident, treatment-naive patients with CIDP (n = 23) or MMN (n = 28) underwent imaging of the brachial plexus using (i) a standardized MRI protocol to assess enlargement or T2 hyperintensity and (ii) bilateral HRUS to determine the extent of nerve (root) enlargement. We found enlargement of the brachial plexus in 19/51 (37%) and T2 hyperintensity in 29/51 (57%) patients with MRI and enlargement in 37/51 (73%) patients with HRUS. Abnormal results were only found in 6/51 (12%) patients with MRI and 12/51 (24%) patients with HRUS. A combination of the two imaging techniques identified 42/51 (83%) patients. We found no association between age, disease duration or Medical Research Council sum-score and sonographic nerve size, MRI enlargement or presence of T2 hyperintensity. Brachial plexus sonography could complement MRI in the diagnostic work-up of patients with suspected CIDP and MMN. Our results indicate that combined imaging studies may add value to the current diagnostic consensus criteria for chronic inflammatory neuropathies. © 2017 EAN.
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Adverse Food Reaction and Functional Gastrointestinal Disorders: Role of the Dietetic Approach.
Pasqui, Francesca; Poli, Carolina; Colecchia, Antonio; Marasco, Giovanni; Festi, Davide
2015-09-01
Bloating, abdominal discomfort or pain, disturbed bowel habits are very common symptoms, frequently reported by the patients soon after food ingestion. These symptoms may occur in different clinical conditions, such as functional bowel disorders, food adverse reactions, gluten-related syndromes, which frequently are interrelated. Consequently, in clinical practice, it is necessary to perform a correct diagnosis in order to identify, for the single patient, the most appropriate therapeutic strategy, which may include not only specific drugs, but also, and mainly, life style changes (healthy nutritional behavior and constant physical activity). The aim of this review is to provide to the general physician, according to the available evidence, the most appropriate diagnostic work-ups for recognizing the different clinical scenarios (i.e. food allergy and intolerance, functional bowel diseases, gluten-related syndromes), to identify their clinical interrelationships and to suggest the most appropriate management. In fact, as far as food intolerances are concerned, it is well known that the number of patients who believe that their symptoms are related to food intolerance is increasing and consequently they restrict their diet, possibly causing nutritional deficiencies. Furthermore, there is an increasing use of unconventional diagnostic tests for food intolerance which lack accurate scientific evidence; the application of their results may induce misdiagnosis and unhealthy therapeutic choices. Consequently the recognition of food intolerance has to be performed on the basis of reliable tests within an agreed diagnostic workup.
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Al Qassabi, Salim S; Al-Harthi, Saud M; Al-Osali, Magdi E
2015-09-01
Gynecomastia is an enlargement of male breast resulting from a proliferation of its glandular component, and it is usually due to an altered estrogen-androgen balance. It should be differentiated from pseudogynecomastia, which is characterized by fat deposition without glandular proliferation and from breast carcinoma. Gynecomastia could be physiological in neonates and pubertal or pathological due to drug intake, chronic liver, or renal disease, hyperthyroidism, testicular or adrenal neoplasms, and hypogonadism whether primary, or secondary. Properly organized work-up is needed to reach the cause of gynecomastia. Here, we reported a case of a young Omani man with gynecomastia with the aim of creating awareness of the occurrence of Klinefelter's syndrome (KS) in patients with gynecomastia, to observe any differences in clinical presentation of KS from those reported in the literature, and highlight the needed diagnostic work-up and treatment.
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Unproven diagnostic procedures in IgE-mediated allergic diseases.
Niggemann, B; Grüber, C
2004-08-01
A considerable body of literature on therapeutic aspects of complementary and alternative medicine has been published in recent years, but little is known on diagnostic procedures. This short review lists complementary and alternative diagnostic procedures for the diagnosis of allergic diseases and presents an assessment of their usefulness for the daily practice. The review of the literature revealed that neither the determination of specific immunoglobulin G-antibodies in serum, the hair-analysis, the cytotoxic test, kinesiology, iridology, or electrodermal testing represent useful tests for the daily practice. To date, no complementary or alternative diagnostic procedure can be recommended as a meaningful element in the diagnostic work-up of allergic diseases. This is especially true for food allergy: properly performed oral food challenges still represent the gold standard for implementing specific diets in food allergic individuals. Ineffective diagnostic approaches may be costly for the consumer and delay appropriate therapy.
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Metastatic B-cell lymphoma masquerading as infectious retinitis and vasculitis.
Say, Emil Anthony T; Knupp, Charles L; Gertsch, Kevin R; Chavala, Sai H
2012-06-01
Intraocular lymphoma is a rare ocular malignancy that may occur in the retina or the uvea. Retina or vitreoretinal lymphoma accounts for the majority of cases and is often secondary to diffuse large B-cell lymphoma. In the present study, a 66-year-old Caucasian male with a history of Waldenstrom's macroglobulinemia with diffuse large B-cell lymphoma, presented with blurred vision in the left eye one month following cycle 4 of an R-CHOP regimen. At the time of onset, the patient was being treated for bacterial pneumonia. Visual acuity was 20/25 in his right eye (OD) and 20/30 in the left (OS). Ophthalmologic examination showed intraretinal white infiltrates associated with hemorrhage in the superotemporal midperiphery of the retina and vitritis OS. Initial diagnostic considerations included infectious (cytomegalovirus retinitis, syphilis, toxoplasmosis, tuberculosis), inflammatory (retinal vasculitis associated with autoimmune disease or hypercoagulable states) or malignant (intraocular lymphoma) diseases. The patient did not respond to intravitreal injection of foscarnet and oral valgancyclovir. Systemic work-up and aqueous fluid biopsy were inconclusive. Diagnostic vitrectomy yielded inconclusive results and the patient continued to have progressive loss of vision. A repeat diagnostic vitrectomy with retinal and subretinal biopsy confirmed large B cells consistent with metastatic B-cell lymphoma. A concomitant PET/CT scan was performed that revealed bilateral new pulmonary nodules resulting in additional chemotherapy. Our case shows the diagnostic dilemmas in patients with systemic lymphoma and the possible role of concurrent systemic restaging in patients with ocular complaints, even when in systemic remission.
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An algorithm for assessment and treatment of postherniorrhaphy pain.
Voorbrood, C E H; Burgmans, J P J; Van Dalen, T; Breel, J; Clevers, G J; Wille, F; Simmermacher, R K J
2015-08-01
Inguinal pain after groin hernia repair is a challenging issue. About 50 % of postherniorrhaphy pain allegedly is neuropathic, treatment of which is cumbersome given the limited efficacy of current therapeutic modalities. Possibly a clear protocol assessing the type of pain and treating it accordingly could improve its treatment. A prospective study was done to evaluate an algorithm in patients with chronic postherniorrhaphy groin pain, aiming to select those with neuropathic pain and to treat appropriately. Treatment consisted of ultrasound-guided nerve blocks as an initial treatment for neuropathic pain. If long-term pain reduction proved inadequate, peripheral nerve stimulation was offered. After our diagnostic workup consisting of anamnesis, physical examination and imaging, 68 patients out of 105 were diagnosed as having non-neuropathic pain. These patients were referred to the most appropriate consultant, treated accordingly or sometimes pain appeared to be self-limiting. Thirty-seven (35 %) patients were diagnosed as having neuropathic pain with a median NRS of 7 (range 4-9) and were referred for further treatment to our pain clinic. The majority (21 of 28 patients) suffered ileo-inguinal nerve involvement. After ultrasound-guided nerve blocks, a permanent reduction in pain was achieved in 18 patients (62 %) with a median post-treatment NRS of 1 (range 0-3). In six patients to which an additional peripheral nerve stimulator (PNS) was offered, pain reduction to a level of mild complaints with a median NRS of 2 (range 1-8) was observed. In total, 24 of the 28 patients (83 %) diagnosed with neuropathic postherniorrhaphy pain achieved significant pain reduction after algorithm-based treatment. In the present study, we implemented a diagnostic workup for patients with postherniorrhaphy inguinal pain to select those with neuropathic pain. Eighty-three percent of the patients with neuropathic groin pain obtained significant improvement of their pain scores after our protocolled treatment. The effect was achieved by nerve infiltrations and in some cases by an implanted PNS when the former was unsuccessful.
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2012-01-01
Cardiovascular Magnetic Resonance (CMR) is recognised as a valuable clinical tool which in a single scan setting can assess ventricular volumes and function, myocardial fibrosis, iron loading, flow quantification, tissue characterisation and myocardial perfusion imaging. The advent of CMR using extrinsic and intrinsic contrast-enhanced protocols for tissue characterisation have dramatically changed the non-invasive work-up of patients with suspected or known cardiomyopathy. Although the technique initially focused on the in vivo identification of myocardial necrosis through the late gadolinium enhancement (LGE) technique, recent work highlighted the ability of CMR to provide more detailed in vivo tissue characterisation to help establish a differential diagnosis of the underlying aetiology, to exclude an ischaemic substrate and to provide important prognostic markers. The potential application of CMR in the clinical approach of a patient with suspected non-ischaemic cardiomyopathy is discussed in this review. PMID:22857649
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A review of current and novel therapies for idiopathic pulmonary fibrosis
Rafii, Rokhsara; Juarez, Maya M.; Albertson, Timothy E.
2013-01-01
Idiopathic pulmonary fibrosis (IPF) is a progressively fibrotic interstitial lung disease that is associated with a median survival of 2-3 years from initial diagnosis. To date, there is no treatment approved for IPF in the United States, and only one pharmacological agent has been approved outside of the United States. Nevertheless, research over the past 10 years has provided us with a wealth of information on its histopathology, diagnostic work-up, and a greater understanding of its pathophysiology. Specifically, IPF is no longer thought to be a predominantly pro-inflammatory disorder. Rather, the fibrosis in IPF is increasingly understood to be the result of a fibroproliferative and aberrant wound healing cascade. The development of therapeutic targets has shifted in accord with this paradigm change. This review highlights the current understanding of IPF, and the recent as well as novel therapeutics being explored in clinical trials for the treatment of this devastating disease. PMID:23372951
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Beygui, Farzin; Castren, Maaret; Brunetti, Natale Daniele; Rosell-Ortiz, Fernando; Christ, Michael; Zeymer, Uwe; Huber, Kurt; Folke, Fredrik; Svensson, Leif; Bueno, Hector; Van't Hof, Arnoud; Nikolaou, Nikolaos; Nibbe, Lutz; Charpentier, Sandrine; Swahn, Eva; Tubaro, Marco; Goldstein, Patrick
2015-08-27
Chest pain and acute dyspnoea are frequent causes of emergency medical services activation. The pre-hospital management of these conditions is heterogeneous across different regions of the world and Europe, as a consequence of the variety of emergency medical services and absence of specific practical guidelines. This position paper focuses on the practical aspects of the pre-hospital treatment on board and transfer of patients taken in charge by emergency medical services for chest pain and dyspnoea of suspected cardiac aetiology after the initial assessment and diagnostic work-up. The objective of the paper is to provide guidance, based on evidence, where available, or on experts' opinions, for all emergency medical services' health providers involved in the pre-hospital management of acute cardiovascular care. © The European Society of Cardiology 2015.
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Jain, Avani; Srivastava, Madhur Kumar; Pawaskar, Alok Suresh; Shelley, Simon; Elangovan, Indirani; Jain, Hasmukh; Pandey, Somnath; Kalal, Shilpa; Amalachandran, Jaykanth
2015-01-01
To evaluate the advantages of contrast enhanced F-18-fluorodeoxyglucose (FDG) positron emission tomography-computed tomography (PET-contrast enhanced CT [CECT]) when used as an initial imaging modality in patients presenting with metastatic malignancy of undefined primary origin (MUO). A total of 243 patients with fine needle aspiration cytology/biopsy proven MUO were included in this prospective study. Patients who were thoroughly evaluated for primary or primary tumor was detected by any other investigation were excluded from the analysis. Totally, 163 patients with pathological diagnosis of malignancy but no apparent sites of the primary tumor were finally selected for analysis. The site of probable primary malignancy suggested by PET-CECT was confirmed by biopsy/follow-up. PET-CECT suggested probable site of primary in 128/163 (78.52%) patients. In 30/35 remaining patients, primary tumor was not detected even after extensive work-up. In 5 patients, where PET-CECT was negative, primary was found on further extensive investigations or follow-up. The sensitivity, specificity, positive predictive value and negative predictive value of the study were 95.76%, 66.67%, 88.28% and 85.71% respectively. F-18 FDG PET-CECT aptly serves the purpose of initial imaging modality owing to high sensitivity, negative and positive predictive value. PET-CECT not only surveys the whole body for the primary malignancy but also stages the disease accurately. Use of contrast improves the diagnostic utility of modality as well as help in staging of the primary tumor. Although benefits of using PET-CECT as initial diagnostic modality are obvious from this study, there is a need for a larger study comparing conventional methods for diagnosing primary in patients with MUO versus PET-CECT.
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Coagulation disorders and their cutaneous presentations: Diagnostic work-up and treatment.
Dabiri, Ganary; Damstetter, Elizabeth; Chang, Yunyoung; Baiyee Ebot, Emily; Powers, Jennifer Gloeckner; Phillips, Tania
2016-05-01
Both inherited and acquired hypercoagulable states can present with nonspecific clinical manifestations, such as petechiae, purpura, livedo reticularis, and ulcerations. A good history and physical examination are crucial to diagnoses of these conditions. Inherited conditions tend to present either in neonatal period or later in life, while acquired conditions typically occur later in life. Diagnostic studies are performed to identify the coagulation cascade deficiency or defect. Treatment primarily hinges on anticoagulation and wound care. In this article, we provide an in-depth analysis of the clinical manifestations, diagnostic considerations, and management options of patients in hypercoagulable states. Copyright © 2015 American Academy of Dermatology, Inc. Published by Elsevier Inc. All rights reserved.
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Abbott, Daniel W; Friedman, Kenneth D; Karafin, Matthew S
2016-12-01
Thrombotic thrombocytopenic purpura (TTP) is a microangiopathic hemolytic anemia that requires emergent treatment with plasma exchange and is one of the most important conditions for which apheresis service professionals are consulted. Careful interpretation of initial laboratory values and the peripheral blood smear is a critical first step to determining the need for plasma exchange because other conditions can show deceptively similar red cell morphology, and ADAMTS13 levels are often not rapidly available. We report a case of a patient who was initially diagnosed with TTP and treated with plasma exchange based on preliminary laboratory data and a peripheral blood smear that contained bizarre microcytic red blood cells presumed to be schistocytes. The peripheral blood smear was later interpreted by the hematopathologist to be inconsistent with TTP, and further workup led to a diagnosis of severe vitamin B12 deficiency secondary to pernicious anemia. This case highlights the diagnostic complexity of thrombotic microangiopathies and the importance of a critical evaluation of the blood smear and presenting laboratory data when there is a concern for TTP. Copyright © 2016 Elsevier Ltd. All rights reserved.
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Computer-aided diagnostic strategy selection.
Greenes, R A
1986-03-01
Determination of the optimal diagnostic work-up strategy for the patient is becoming a major concern for the practicing physician. Overlap of the indications for various diagnostic procedures, differences in their invasiveness or risk, and high costs have made physicians aware of the need to consider the choice of procedure carefully, as well as its relation to management actions available. In this article, the author discusses research approaches that aim toward development of formal decision analytic methods to allow the physician to determine optimal strategy; clinical algorithms or rules as guides to physician decisions; improved measures for characterizing the performance of diagnostic tests; educational tools for increasing the familiarity of physicians with the concepts underlying these measures and analytic procedures; and computer-based aids for facilitating the employment of these resources in actual clinical practice.
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Cerebral venous thrombosis: state of the art diagnosis and management.
Dmytriw, Adam A; Song, Jin Soo A; Yu, Eugene; Poon, Colin S
2018-05-11
This review article aims to discuss the pathophysiology, clinical presentation, and neuroimaging of cerebral venous thrombosis (CVT). Different approaches for diagnosis of CVT, including CT/CTV, MRI/MRV, and US will be discussed and the reader will become acquainted with imaging findings as well as limitations of each modality. Lastly, this exhibit will review the standard of care for CVT treatment and emerging endovascular options. A literature search using PubMed and the MEDLINE subengine was completed using the terms "cerebral venous thrombosis," "stroke," and "imaging." Studies reporting on the workup, imaging characteristics, clinical history, and management of patients with CVT were included. The presentation of CVT is often non-specific and requires a high index of clinical suspicion. Signs of CVT on NECT can be divided into indirect signs (edema, parenchymal hemorrhage, subarachnoid hemorrhage, and rarely subdural hematomas) and less commonly direct signs (visualization of dense thrombus within a vein or within the cerebral venous sinuses). Confirmation is performed with CTV, directly demonstrating the thrombus as a filling defect, or MRI/MRV, which also provides superior characterization of parenchymal abnormalities. General pitfalls and anatomic variants will also be discussed. Lastly, endovascular management options including thrombolysis and mechanical thrombectomy are discussed. CVT is a relatively uncommon phenomenon and frequently overlooked at initial presentation. Familiarity with imaging features and diagnostic work-up of CVT will help in providing timely diagnosis and therapy which can significantly improve outcome and diminish the risk of acute and long-term complications, optimizing patient care.
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Contrast-enhanced ultrasound in the diagnosis of nodules in liver cirrhosis
Kim, Tae Kyoung; Jang, Hyun-Jung
2014-01-01
Contrast-enhanced ultrasound (CEUS) using microbubble contrast agents are useful for the diagnosis of the nodules in liver cirrhosis. CEUS can be used as a problem-solving method for indeterminate nodules on computed tomography (CT) or magnetic resonance imaging (MRI) or as an initial diagnostic test for small newly detected liver nodules. CEUS has unique advantages over CT and MRI including no renal excretion of contrast, real-time imaging capability, and purely intravascular contrast. Hepatocellular carcinoma (HCC) is characterized by arterial-phase hypervascularity and later washout (negative enhancement). Benign nodules such as regenerative nodules or dysplastic nodules are usually isoechoic or slightly hypoechoic in the arterial phase and isoechoic in the late phase. However, there are occasional HCC lesions with atypical enhancement including hypovascular HCC and hypervascular HCC without washout. Cholangiocarcinomas are infrequently detected during HCC surveillance and mostly show rim-like or diffuse hypervascularity followed by rapid washout. Hemangiomas are often found at HCC surveillance and are easily diagnosed by CEUS. CEUS can be effectively used in the diagnostic work-up of small nodules detected at HCC surveillance. CEUS is also useful to differentiate malignant and benign venous thrombosis and to guide and monitor the local ablation therapy for HCC. PMID:24707142
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Contrast-enhanced ultrasound in the diagnosis of nodules in liver cirrhosis.
Kim, Tae Kyoung; Jang, Hyun-Jung
2014-04-07
Contrast-enhanced ultrasound (CEUS) using microbubble contrast agents are useful for the diagnosis of the nodules in liver cirrhosis. CEUS can be used as a problem-solving method for indeterminate nodules on computed tomography (CT) or magnetic resonance imaging (MRI) or as an initial diagnostic test for small newly detected liver nodules. CEUS has unique advantages over CT and MRI including no renal excretion of contrast, real-time imaging capability, and purely intravascular contrast. Hepatocellular carcinoma (HCC) is characterized by arterial-phase hypervascularity and later washout (negative enhancement). Benign nodules such as regenerative nodules or dysplastic nodules are usually isoechoic or slightly hypoechoic in the arterial phase and isoechoic in the late phase. However, there are occasional HCC lesions with atypical enhancement including hypovascular HCC and hypervascular HCC without washout. Cholangiocarcinomas are infrequently detected during HCC surveillance and mostly show rim-like or diffuse hypervascularity followed by rapid washout. Hemangiomas are often found at HCC surveillance and are easily diagnosed by CEUS. CEUS can be effectively used in the diagnostic work-up of small nodules detected at HCC surveillance. CEUS is also useful to differentiate malignant and benign venous thrombosis and to guide and monitor the local ablation therapy for HCC.
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An incidental case of biliary fascioliasis mimicking cholangiocellular carcinoma.
Şenateş, Ebubekir; Doğan, Abdullah; Şenates, Banu Erkalma; Bodakçi, Erdal; Bekçibasi, Muhammet
2014-12-01
Fascioliasis is a zoonotic infestation caused by Fasciola hepatica that usually attacks mammals, such as goats, sheep and cattle. The parasites can infect humans via freshwater plants contaminated with encysted metacercariae. In the acute phase, which involves hepatic invasion, the disease may present with abdominal pain, mild fever and hepatomegaly. In the chronic phase, the parasites settle into the biliary tracts, and then cause cholangitis and cholestasis. Sometimes, the disease may mimic malignancies, creating a mass appearance. Endoscopic retrograde cholangiopancreatography (ERCP) is an important diagnostic and treatment method because it allows simultaneous diagnosis and treatment. Here, we present a 44-year-old female patient who presented to our hospital with complaints of abdominal pain, nausea, vomiting, anorexia and weight loss. After diagnostic investigations with laboratory and imaging methods, she was initially hospitalized with a preliminary diagnosis of cholangiocellular carcinoma (CCC). However, after a full work-up, the patient was diagnosed with Fasciola hepatica via ERCP and parasites were extracted with ERCP at the same time and then treated with a single dose of triclabendazole 10 mg/kg. Two months later, the clinical status of the patient had improved markedly, with resolution of all symptoms and all laboratory and imaging tests returning to within normal limits.
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Diagnosing Chronic Pancreatitis.
Anaizi, Ahmad; Hart, Phil A; Conwell, Darwin L
2017-07-01
Diagnosing CP can range from routine in those with severe disease and obvious calcifications on CT imaging to elusive in those patients with early changes in CP. The workup of suspected CP should follow a progressively noninvasive to more invasive STEP-wise approach in a patient with a suspicious clinical presentation and risk factors that raise their pretest probability of disease. After a thorough history and physical examination, basic laboratories should be obtained such as lipase, amylase, metabolic panel, and indirect PFTs (fecal elastase-1, serum trypsin). Computed tomography remains the best initial imaging modality to obtain as it has good sensitivity for severe CP and may obviate the need for other diagnostic tests. When equivocal, an MRCP should be obtained for a more detailed evaluation of the both the pancreatic parenchyma and ducts. If the diagnosis remains in doubt, EUS should be performed with or without pancreas function testing. ERCP remains a last-line diagnostic test and seldom should be used outside of therapeutic purposes. Future advances should target optimizing current diagnostic tools to more accurately diagnose early CP, as it is in this population where the benefits of delaying progression of CP may have the most profound effect. Likely the best way at establishing a diagnosis in these patients is via pancreatic function testing in the setting of indeterminate EUS results. Biomarker studies of pancreas fluid may supplement diagnosis.
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Pozdzik, Agnieszka; Brochériou, Isabelle; David, Cristina; Touzani, Fahd; Goujon, Jean Michel; Wissing, Karl Martin
2018-01-01
The discovery of circulating antibodies specific for native podocyte antigens has transformed the diagnostic workup and greatly improved management of idiopathic membranous nephropathy (iMN). In addition, their identification has clearly characterized iMN as a largely autoimmune disorder. Anti-PLA2R1 antibodies are detected in approximately 70% to 80% and anti-THSD7A antibodies in only 2% of adult patients with iMN. The presence of anti-THSD7A antibodies is associated with increased risk of malignancy. The assessment of PLA2R1 and THSD7A antigen expression in glomerular immune deposits has a better sensitivity than measurement of the corresponding autoantibodies. Therefore, in the presence of circulating anti-podocytes autoantibodies and/or enhanced expression of PLA2R1 and THSD7A antigens MN should be considered as primary MN (pMN). Anti-PLA2R1 or anti-THSD7A autoantibodies have been proposed as biomarkers of autoimmune disease activity and their blood levels should be regularly monitored in pMN to evaluate disease activity and predict outcomes. We propose a revised clinical workup flow for patients with MN that recommends assessment of kidney biopsy for PLA2R1 and THSD7A antigen expression, screening for circulating anti-podocytes antibodies, and assessment for secondary causes, especially cancer, in patients with THSD7A antibodies. Persistence of anti-podocyte antibodies for 6 months or their increase in association with nephrotic proteinuria should lead to the introduction of immunosuppressive therapies. Recent data have reported the efficacy and safety of new specific therapies targeting B cells (anti-CD20 antibodies, inhibitors of proteasome) in pMN which should lead to an update of currently outdated treatment guidelines.
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Brochériou, Isabelle; David, Cristina; Touzani, Fahd; Goujon, Jean Michel; Wissing, Karl Martin
2018-01-01
The discovery of circulating antibodies specific for native podocyte antigens has transformed the diagnostic workup and greatly improved management of idiopathic membranous nephropathy (iMN). In addition, their identification has clearly characterized iMN as a largely autoimmune disorder. Anti-PLA2R1 antibodies are detected in approximately 70% to 80% and anti-THSD7A antibodies in only 2% of adult patients with iMN. The presence of anti-THSD7A antibodies is associated with increased risk of malignancy. The assessment of PLA2R1 and THSD7A antigen expression in glomerular immune deposits has a better sensitivity than measurement of the corresponding autoantibodies. Therefore, in the presence of circulating anti-podocytes autoantibodies and/or enhanced expression of PLA2R1 and THSD7A antigens MN should be considered as primary MN (pMN). Anti-PLA2R1 or anti-THSD7A autoantibodies have been proposed as biomarkers of autoimmune disease activity and their blood levels should be regularly monitored in pMN to evaluate disease activity and predict outcomes. We propose a revised clinical workup flow for patients with MN that recommends assessment of kidney biopsy for PLA2R1 and THSD7A antigen expression, screening for circulating anti-podocytes antibodies, and assessment for secondary causes, especially cancer, in patients with THSD7A antibodies. Persistence of anti-podocyte antibodies for 6 months or their increase in association with nephrotic proteinuria should lead to the introduction of immunosuppressive therapies. Recent data have reported the efficacy and safety of new specific therapies targeting B cells (anti-CD20 antibodies, inhibitors of proteasome) in pMN which should lead to an update of currently outdated treatment guidelines. PMID:29511687
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Splenomegaly - Diagnostic validity, work-up, and underlying causes.
Curovic Rotbain, Emelie; Lund Hansen, Dennis; Schaffalitzky de Muckadell, Ove; Wibrand, Flemming; Meldgaard Lund, Allan; Frederiksen, Henrik
2017-01-01
Our aim was to assess the validity of the ICD-10 code for splenomegaly in the Danish National Registry of Patients (DNRP), as well as to investigate which underlying diseases explained the observed splenomegaly. Splenomegaly is a common finding in patients referred to an internal medical department and can be caused by a large spectrum of diseases, including haematological diseases and liver cirrhosis. However, some patients remain without a causal diagnosis, despite extensive medical work-up. We identified 129 patients through the DNRP, that had been given the ICD-10 splenomegaly diagnosis code in 1994-2013 at Odense University Hospital, Denmark, excluding patients with prior splenomegaly, malignant haematological neoplasia or liver cirrhosis. Medical records were reviewed for validity of the splenomegaly diagnosis, diagnostic work-up, and the underlying disease was determined. The positive predictive value (PPV) with 95% confidence interval (CI) was calculated for the splenomegaly diagnosis code. Patients with idiopathic splenomegaly in on-going follow-up were also invited to be investigated for Gaucher disease. The overall PPV was 92% (95% CI: 85, 96). Haematological diseases were the underlying causal diagnosis in 39%; hepatic diseases in 18%, infectious disease in 10% and other diseases in 8%. 25% of patients with splenomegaly remained without a causal diagnosis. Lymphoma was the most common haematological causal diagnosis and liver cirrhosis the most common hepatic causal diagnosis. None of the investigated patients with idiopathic splenomegaly had Gaucher disease. Our findings show that the splenomegaly diagnosis in the DNRP is valid and can be used in registry-based studies. However, because of suspected significant under-coding, it should be considered if supplementary data sources should be used in addition, in order to attain a more representative population. Haematological diseases were the most common cause, however in a large fraction of patients no causal diagnosis was found.
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A standardized test to document cataplexy.
Vandi, Stefano; Pizza, Fabio; Antelmi, Elena; Neccia, Giulia; Iloti, Martina; Mazzoni, Alice; Avoni, Patrizia; Plazzi, Giuseppe
2017-10-09
Cataplexy is the pathognomonic symptom of narcolepsy type 1 (NT1). Since it is considered difficult to be directly observed or documented by clinicians, its diagnosis relies mainly on history taking. Our study aimed at testing the feasibility of a standardized video recording procedure under emotional stimulation to document cataplexy in the diagnostic work-up of suspected hypersomnia of central origin. Two-hundred-eight consecutive patients underwent the diagnostic work-up and reached the final diagnosis of NT1 (n = 133), idiopathic hypersomnia or narcolepsy type 2 (IH/NT2 group, n = 33), or subjective excessive daytime sleepiness (sEDS group, n = 42). All subjects underwent a standardized video recording procedure while watching funny movies selected according to individual preferences, and a technician blind to clinical features reviewed the recordings to identify hypotonic phenomena that were finally confirmed by patients. The video recording under emotional stimulation captured hypotonic phenomena in 72.2%, 9.1% and 4.8% of NT1, IH/NT2, and sEDS subjects (p < 0.0001), respectively. When tested against CSF hypocretin deficiency, the documentation of a hypotonic episode at the test showed an area under the ROC curve of 0.823 ± 0.033 (p < 0.0001). NT1 patients under anticataplectic medications showed less frequently hypotonic episodes than untreated ones (48.0% vs 77.8%, p = 0.003). A standardized video recording procedure under emotional stimulation can help in the characterization of suspected hypersomnia of central origin. Further multi-center studies are warranted to extend the present findings and integrate a shared procedure for the laboratory work-up of narcolepsy. Copyright © 2017 Elsevier B.V. All rights reserved.
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Messroghli, Daniel R; Pickardt, Thomas; Fischer, Marcus; Opgen-Rhein, Bernd; Papakostas, Konstantin; Böcker, Dorothée; Jakob, André; Khalil, Markus; Mueller, Goetz C; Schmidt, Florian; Kaestner, Michael; Udink Ten Cate, Floris E A; Wagner, Robert; Ruf, Bettina; Kiski, Daniela; Wiegand, Gesa; Degener, Franziska; Bauer, Ulrike M M; Friede, Tim; Schubert, Stephan
2017-05-01
The aim of this registry is to provide data on age-related clinical features of suspected myocarditis and to create a study platform allowing for deriving diagnostic criteria and, at a later stage, testing therapeutic interventions in patients with myocarditis. After an initial 6-month pilot phase, MYKKE was opened in June 2014 as a prospective multicenter registry for patients from pediatric heart centers, university hospitals, and community hospitals with pediatric cardiology wards in Germany. Inclusion criteria consisted of age<18 years and hospitalization for suspected myocarditis as leading diagnosis at the discretion of the treating physician. By December 31, 2015, fifteen centers across Germany were actively participating and had enrolled 149 patients. Baseline data reveal 2 age peaks (<2 years, >12 years), show higher proportions of males, and document a high prevalence of severe disease courses in pediatric patients with suspected myocarditis. Severe clinical courses and early adverse events were more prevalent in younger patients and were related to severely impaired leftventricular ejection fraction at initial presentation. MYKKE represents a multicenter registry and research platform for children and adolescents with suspected myocarditis that achieve steady recruitment and generate a wide range of real-world data on clinical course, diagnostic workup, and treatment of this group of patients. The baseline data reveal the presence of 2 age peaks and provide important insights into the severity of disease in children with suspected myocarditis. In the future, MYKKE might facilitate interventional substudies by providing an established collaborating network using common diagnostic approaches. Copyright © 2017 Elsevier Inc. All rights reserved.
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Serum Protein Electrophoresis in the Evaluation of Lytic Bone Lesions
Nystrom, Lukas M.; Buckwalter, Joseph A.; Syrbu, Sergei; Miller, Benjamin J.
2013-01-01
Serum protein electrophoresis (SPEP) is often obtained at the initial evaluation of a radiolucent bone lesion of unknown etiology. The results are considered convincing evidence of the presence or absence of a plasma cell neoplasm. The sensitivity and specificity of the SPEP have not been reported in this clinical scenario. Our purpose is to assess the diagnostic value of the SPEP in the initial work-up of the radiolucent bone lesion. We identified 182 patients undergoing evaluation of a radiolucent bone lesion that included tissue biopsy and an SPEP value. We then calculated the sen-sitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) of SPEP as a diagnostic test for a plasma cell neo-plasm in this clinical scenario. Forty-six of 182 (25.3%) patients in our series were diagnosed with a plasma cell neo-plasm by histopathologic analysis. The sensitivity of SPEP was 71% and the specificity was 83%. PPV was 47% and NPV was 94%. When analyzing only those presenting with multiple lesions, the percentage of patients diag-nosed with multiple myeloma increased to 44.7% (34 of 76 patients). The SPEP, however, did not have a substantially increased diagnostic accuracy with sensitivity of 71%, specificity 79%, PPV 40% and NPV 93%. SPEP lacks sensitivity and positive predictive value to provide a definitive diagnosis of myeloma in radiolucent bone lesions, but has a high negative predictive value which may make it useful in ruling out the disease. We recommend that this test either be performed in conjunction with urine electrophoresis, immunofixation electro-phoresis and free light chain assay, or after biopsy confirming the diagnosis of myeloma. PMID:24027470
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Added Value of SPECT/CT in the Evaluation of Benign Bone Diseases of the Appendicular Skeleton.
Abikhzer, Gad; Srour, Saher; Keidar, Zohar; Bar-Shalom, Rachel; Kagna, Olga; Israel, Ora; Militianu, Daniela
2016-04-01
Bone scintigraphy is a sensitive technique to detect altered bone mineralization but has limited specificity. The use of SPECT/CT has improved significantly the diagnostic accuracy of bone scintigraphy, in patients with cancer as well as in evaluation of benign bone disease. It provides precise localization and characterization of tracer-avid foci, shortens the diagnostic workup, and decreases patient anxiety. Through both the SPECT and the CT components, SPECT/CT has an incremental value in characterizing benign bone lesions, specifically in the appendicular skeleton, as illustrated by present case series.
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Agrawal, Anand; Chandermani; Madaan, Himanshu; Yadav, Sarita
2016-01-01
A 60-year-old female who was known to have rheumatoid arthritis for the preceding two-and-half years presented with difficulty in breathing associated with chest pain over the right hemithorax of two months duration. She was found to have a right-sided mild to moderate pleural effusion; there was no evidence of pleural thickening. The pleural fluid was pale yellow in appearance and diagnostic work-up confirmed it to be a pseudochylous pleural effusion. The present case highlights the rare occurrence of pseudochylothorax without pleural thickening as a complication of rheumatoid arthritis.
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Electrophysiology of Cranial Nerve Testing: Trigeminal and Facial Nerves.
Muzyka, Iryna M; Estephan, Bachir
2018-01-01
The clinical examination of the trigeminal and facial nerves provides significant diagnostic value, especially in the localization of lesions in disorders affecting the central and/or peripheral nervous system. The electrodiagnostic evaluation of these nerves and their pathways adds further accuracy and reliability to the diagnostic investigation and the localization process, especially when different testing methods are combined based on the clinical presentation and the electrophysiological findings. The diagnostic uniqueness of the trigeminal and facial nerves is their connectivity and their coparticipation in reflexes commonly used in clinical practice, namely the blink and corneal reflexes. The other reflexes used in the diagnostic process and lesion localization are very nerve specific and add more diagnostic yield to the workup of certain disorders of the nervous system. This article provides a review of commonly used electrodiagnostic studies and techniques in the evaluation and lesion localization of cranial nerves V and VII.
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Qassabi, Salim S. Al; Al-Harthi, Saud M.; Al-Osali, Magdi E.
2015-01-01
Gynecomastia is an enlargement of male breast resulting from a proliferation of its glandular component, and it is usually due to an altered estrogen-androgen balance. It should be differentiated from pseudogynecomastia, which is characterized by fat deposition without glandular proliferation and from breast carcinoma. Gynecomastia could be physiological in neonates and pubertal or pathological due to drug intake, chronic liver, or renal disease, hyperthyroidism, testicular or adrenal neoplasms, and hypogonadism whether primary, or secondary. Properly organized work-up is needed to reach the cause of gynecomastia. Here, we reported a case of a young Omani man with gynecomastia with the aim of creating awareness of the occurrence of Klinefelter’s syndrome (KS) in patients with gynecomastia, to observe any differences in clinical presentation of KS from those reported in the literature, and highlight the needed diagnostic work-up and treatment. PMID:26318471
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Hirose, Hitoshi; Sarosiek, Konrad; Cavarocchi, Nicholas C
2014-01-01
Gastrointestinal bleed (GIB) is a known complication in patients receiving nonpulsatile ventricular assist devices (VAD). Previously, we reported a new algorithm for the workup of GIB in VAD patients using deep bowel enteroscopy. In this new algorithm, patients underwent fewer procedures, received less transfusions, and took less time to make the diagnosis than the traditional GIB algorithm group. Concurrently, we reviewed the cost-effectiveness of this new algorithm compared with the traditional workup. The procedure charges for the diagnosis and treatment of each episode of GIB was ~ $2,902 in the new algorithm group versus ~ $9,013 in the traditional algorithm group (p < 0.0001). Following the new algorithm in VAD patients with GIB resulted in fewer transfusions and diagnostic tests while attaining a substantial cost savings per episode of bleeding.
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Cunha, Burke A; Hage, Jean E; Nouri, Yelda
2012-01-01
Fever of unknown origin (FUO) has been defined as a fever of ≥101°F that persists for 3 weeks or more. It is not readily diagnosed after 1 week of intensive in-hospital testing or after intensive outpatient or inpatient testing. Fevers of unknown origin may be caused by infectious diseases, malignancies, collagen vascular diseases, or a variety of miscellaneous disorders. The relative distribution of causes of FUOs is partly age-related. In the elderly, the preponderance of FUOs is attributable to neoplastic and infectious etiologies, whereas in children, collagen vascular diseases, neoplasms, and viral infectious disease predominate. The diagnostic approach to FUOs depends on a careful analysis of the history, physical findings, and laboratory tests. Most patients with FUOs exhibit localizing findings that should direct the diagnostic workup and limit diagnostic possibilities. The most perplexing causes of FUOs involve those without specific diagnostic tests, e.g., juvenile rheumatoid arthritis (JRA) or adult Still's disease. In a young adult with FUO, if all of the cardinal symptoms are present, JRA may present either a straightforward or an elusive diagnosis, if key findings are absent or if the diagnosis goes unsuspected. We present a 19-year-old man with a recurrent FUO. His illness began 3 years before admission and has recurred twice since. In the past, he did not manifest arthralgias, arthritis, or a truncal rash. On admission, he presented with an FUO with hepatosplenomegaly, aseptic meningitis, and pericarditis. An extensive diagnostic workup ruled out lymphoma and leukemia. Moreover, a further extensive workup eliminated infectious causes of FUO appropriate to his clinical presentation, ie, tuberculosis, histoplasmosis, brucellosis, Q fever, typhoid fever, Epstein-Barr virus, infectious mononucleosis, cytomegalovirus, human herpes virus (HHV)-6, babesiosis, ehrlichiosis, viral hepatitis, and Whipple's disease. The diagnosis of JRA was based on the exclusion of infectious and neoplastic disorders in a young adult with hepatosplenomegaly, aseptic meningitis, pericarditis, and a double quotidian fever. With JRA, tests for rheumatic diseases are negative, as they were in this case. The only laboratory abnormalities in this patient included elevated serum transaminases, a mildly elevated erythrocyte sedimentation rate, and a moderately elevated level of serum ferritin. Diagnostic fever curves are most helpful in cases where the diagnosis is most elusive, as was the case here. Relatively few disorders are associated with a double quotidian fever, ie, visceral leishmaniasis, mixed malarial infections, right-sided gonococcal acute bacterial endocarditis, and JRA. Because the patient received antipyretics during the first week of admission, fever was not present. After infectious disease consultation during week 2 of hospitalization, antipyretics were discontinued, and a double quotidian fever was present, which provided the key diagnostic clue in this case. Copyright © 2012 Elsevier Inc. All rights reserved.
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Contribution of EEG in transient neurological deficits.
Lozeron, Pierre; Tcheumeni, Nadine Carole; Turki, Sahar; Amiel, Hélène; Meppiel, Elodie; Masmoudi, Sana; Roos, Caroline; Crassard, Isabelle; Plaisance, Patrick; Benbetka, Houria; Guichard, Jean-Pierre; Houdart, Emmanuel; Baudoin, Hélène; Kubis, Nathalie
2018-01-01
Identification of stroke mimics and 'chameleons' among transient neurological deficits (TND) is critical. Diagnostic workup consists of a brain imaging study, for a vascular disease or a brain tumour and EEG, for epileptiform discharges. The precise role of EEG in this diagnostic workup has, however, never been clearly delineated. However, this could be crucial in cases of atypical or incomplete presentation with consequences on disease management and treatment. We analysed the EEG patterns on 95 consecutive patients referred for an EEG within 7 days of a TND with diagnostic uncertainty. Patients were classified at the discharge or the 3-month follow-up visit as: 'ischemic origin', 'migraine aura', 'focal seizure', and 'other'. All patients had a brain imaging study. EEG characteristics were correlated to the TND symptoms, imaging study, and final diagnosis. Sixty four (67%) were of acute onset. Median symptom duration was 45 min. Thirty two % were 'ischemic', 14% 'migraine aura', 19% 'focal seizure', and 36% 'other' cause. EEGs were recorded with a median delay of 1.6 day after symptoms onset. Forty EEGs (42%) were abnormal. Focal slow waves were the most common finding (43%), also in the ischemic group (43%), whether patients had a typical presentation or not. Epileptiform discharges were found in three patients, one with focal seizure and two with migraine aura. Non-specific EEG focal slowing is commonly found in TND, and may last several days. We found no difference in EEG presentation between stroke mimics and stroke chameleons, and between other diagnoses.
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The clinical evaluation of infantile nystagmus: What to do first and why
Bertsch, Morgan; Floyd, Michael; Kehoe, Taylor; Pfeifer, Wanda; Drack, Arlene V.
2017-01-01
Introduction Infantile nystagmus has many causes, some life threatening. We determined the most common diagnoses in order to develop a testing algorithm. Methods Retrospective chart review. Exclusion criteria were no nystagmus, acquired after 6 months, or lack of examination. Data collected: pediatric eye examination findings, ancillary testing, order of testing, referral, and final diagnoses. Final diagnosis was defined as meeting published clinical criteria and/or confirmed by diagnostic testing. Patients with a diagnosis not meeting the definition were “unknown.” Patients with incomplete testing were “incomplete.” Patients with multiple plausible etiologies were “multifactorial.” Patients with negative complete workup were “motor.” Results 284 charts were identified; 202 met inclusion criteria. The 3 most common causes were Albinism(19%), Leber Congenital Amaurosis(LCA)(14%) and Non-LCA retinal dystrophy (13%). Anatomic retinal disorders comprised 10%, motor another 10%. The most common first test was MRI (74/202) with a diagnostic yield of 16%. For 28 MRI-first patients, nystagmus alone was the indication; for 46 MRI-first patients other neurologic signs were present. 0/28 nystagmus-only patients had a diagnostic MRI while 14/46 (30%) with neurologic signs did. Yield of ERG as first test was 56%, OCT 55%, and molecular genetic testing 47%. 90% of patients had an etiology identified. Conclusion The most common causes of infantile nystagmus were retinal disorders (56%), however the most common first test was brain MRI. For patients without other neurologic stigmata complete pediatric eye examination, ERG, OCT and molecular genetic testing had a higher yield than MRI scan. If MRI is not diagnostic, a complete ophthalmologic workup should be pursued. PMID:28177849
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Janelidze, Shorena; Hall, Sara; Magdalinou, Nadia; Lees, Andrew J.; Andreasson, Ulf; Norgren, Niklas; Linder, Jan; Forsgren, Lars; Constantinescu, Radu; Zetterberg, Henrik; Blennow, Kaj
2017-01-01
Objective: To determine if blood neurofilament light chain (NfL) protein can discriminate between Parkinson disease (PD) and atypical parkinsonian disorders (APD) with equally high diagnostic accuracy as CSF NfL, and can therefore improve the diagnostic workup of parkinsonian disorders. Methods: The study included 3 independent prospective cohorts: the Lund (n = 278) and London (n = 117) cohorts, comprising healthy controls and patients with PD, progressive supranuclear palsy (PSP), corticobasal syndrome (CBS), and multiple system atrophy (MSA), as well as an early disease cohort (n = 109) of patients with PD, PSP, MSA, or CBS with disease duration ≤3 years. Blood NfL concentration was measured using an ultrasensitive single molecule array (Simoa) method, and the diagnostic accuracy to distinguish PD from APD was investigated. Results: We found strong correlations between blood and CSF concentrations of NfL (ρ ≥ 0.73–0.84, p ≤ 0.001). Blood NfL was increased in patients with MSA, PSP, and CBS (i.e., all APD groups) when compared to patients with PD as well as healthy controls in all cohorts (p < 0.001). Furthermore, in the Lund cohort, blood NfL could accurately distinguish PD from APD (area under the curve [AUC] 0.91) with similar results in both the London cohort (AUC 0.85) and the early disease cohort (AUC 0.81). Conclusions: Quantification of blood NfL concentration can be used to distinguish PD from APD. Blood-based NfL might consequently be included in the diagnostic workup of patients with parkinsonian symptoms in both primary care and specialized clinics. Classification of evidence: This study provides Class III evidence that blood NfL levels discriminate between PD and APD. PMID:28179466
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Klatskin tumour: meticulous preoperative work-up and resection rate.
Otto, G; Hoppe-Lotichius, M; Bittinger, F; Schuchmann, M; Düber, C
2011-04-01
Surgery represents the only potentially curative treatment of hilar cholangiocarcinoma (hilCC). It may be suggested that meticulous preoperative work-up in Asian countries leads to higher resection rates. One hundred and eighty-two patients treated in our department between 1998 and 2008 were included in an analysis based on our prospectively recorded database. Among them, 75 % had a percutaneous transhepatic cholangiography as part of their diagnostic work-up. A total of 160 patients underwent explorative surgery and 123 patients were resected (77 % of patients undergoing exploration, 68 % of all patients). Ninety-one percent of the patients were diagnosed to have Bismuth III and IV tumours. En-bloc resection of the tumour and the adjacent liver including segment 1 was the standard procedure in 109 of these patients, while hilar resection was performed in 14 patients. Upon tumour resection, hospital mortality was 5.7 %. Five-year survival in patients without surgery or with mere exploration was 0 %, after resection it reached 26 %. Patients with R 1 resection experienced longer survival than patients without resection (p < 0.001). Right and left hemihepatectomies were performed with identical frequency resulting in identical survival. Lymph node involvement proved to be the only significant predictor of prognosis (p = 0.006). Resection should be performed whenever possible since even after palliative resection survival is substantially increased compared to patients without resection. Meticulous preoperative work-up may contribute to a high resection rate in patients with hilCC by providing additional information allowing the surgeon to perform more aggressive approaches. © Georg Thieme Verlag KG Stuttgart · New York.
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Yoo, Je-Hyun; Kim, Ki-Tae; Kim, Tae-Young; Hwang, Ji-Hyo; Chang, Jun-Dong
2017-02-01
Displaced femoral neck fracture in elderly patients has been treated with hemiarthroplasty as the treatment of choice. Fever following HA is common in these elderly patients. The aim of this study was to determine which post-HA fever workup could be beneficial in this group of patients. A total of 272 consecutive patients aged ≥70 years undergoing HA for displaced femoral neck fracture were retrospectively investigated. Postoperative fever (POF) was defined as any recorded body temperature ≥38°C in the early postoperative period. POF in each patient was characterized by the maximum temperature, the day of the first fever, and frequency of fever, stratified as either single or multiple fever spikes. Medical records were reviewed to identify positive fever workups and febrile complications. Of 272 patients, 135 (49.6%) developed POF. A total of 428 routine diagnostic tests were performed in all patients with POF, of which only 57 tests (13.3%) were positive. Urinalysis showed the highest positive rate (21.9%), followed by urine culture (14.3%), chest x-ray (12.6%), and blood culture (1.1%). The most common febrile complication was pneumonia (12.6%), followed by urinary tract infection (8.1%). On multivariate logistic regression for positive workups, only fever after postoperative day (POD) 2 was a risk factor for positive chest x-ray (OR 3.86, p=0.016) and urine culture (OR 5.04, p=0.019). Moreover, fever after POD 2 (OR 6.93, p<0.0001) and multiple fever spikes (OR 2.92, p=0.026) were independent predictors of infectious febrile complications. Routine workup for POF following hemiarthroplasty in elderly patients with displaced femoral neck fracture is not warranted. However, for fever after POD 2 and multiple fever spikes, chest x-ray and urinalysis would be necessary to rule out the two most common febrile complications such as pneumonia and urinary tract infection. Copyright © 2016 Elsevier Ltd. All rights reserved.
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Eckhoff, Kerstin; Wedel, Thilo; Both, Marcus; Bas, Kayhan; Maass, Nicolai; Alkatout, Ibrahim
2016-10-19
Rectus sheath hematoma is a rare clinical diagnosis, particularly in pregnancy. Due to unspecific symptoms, misdiagnosis is likely and could potentially endanger a patient as well as her fetus. A 26-year-old white woman presented with mild right-sided abdominal pain, which increased during palpation and movement, at 26 + 3 weeks' gestational age. Ultrasound imaging initially showed a round and well-demarcated structure, which appeared to be in contact with her uterine wall, leading to a suspected diagnosis of an infarcted leiomyoma. However, she reported increasing levels of pain and laboratory tests showed a significant drop in her initially normal hemoglobin level. A magnetic resonance imaging scan finally revealed a large type III rectus sheath hematoma on the right side. Because of progressive blood loss into her rectus sheath under conservative therapy, with a significant further decrease in her hemoglobin levels, surgical treatment via right-sided paramedian laparotomy was initiated. During the operation the arterial bleed could be ligated. She eventually achieved complete convalescence and delivered a healthy newborn spontaneously after 40 weeks of gestation. This case report highlights the clinical and diagnostic features of rectus sheath hematoma and shows the anatomical aspects of the rectus sheath, simplifying early and correct diagnosis.
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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.
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Petrazzuoli, Ferdinando; Vinker, Shlomo; Koskela, Tuomas H; Frese, Thomas; Buono, Nicola; Soler, Jean Karl; Ahrensberg, Jette; Asenova, Radost; Foguet Boreu, Quintí; Ceyhun Peker, Gülsen; Collins, Claire; Hanževački, Miro; Hoffmann, Kathryn; Iftode, Claudia; Kurpas, Donata; Le Reste, Jean Yves; Lichtwarck, Bjørn; Petek, Davorina; Pinto, Daniel; Schrans, Diego; Streit, Sven; Tang, Eugene Yee Hing; Tatsioni, Athina; Torzsa, Péter; Unalan, Pemra C; van Marwijk, Harm; Thulesius, Hans
2017-09-01
Strategies for the involvement of primary care in the management of patients with presumed or diagnosed dementia are heterogeneous across Europe. We wanted to explore attitudes of primary care physicians (PCPs) when managing dementia: (i) the most popular cognitive tests, (ii) who had the right to initiate or continue cholinesterase inhibitor or memantine treatment, and (iii) the relationship between the permissiveness of these rules/guidelines and PCP's approach in the dementia investigations and assessment. Key informant survey. Primary care practices across 25 European countries. Four hundred forty-five PCPs responded to a self-administered questionnaire. Two-step cluster analysis was performed using characteristics of the informants and the responses to the survey. Two by two contingency tables with odds ratios and 95% confidence intervals were used to assess the association between categorical variables. A multinomial logistic regression model was used to assess the association of multiple variables (age class, gender, and perceived prescription rules) with the PCPs' attitude of "trying to establish a diagnosis of dementia on their own." Discrepancies between rules/guidelines and attitudes to dementia management was found in many countries. There was a strong association between the authorization to prescribe dementia drugs and pursuing dementia diagnostic work-up (odds ratio, 3.45; 95% CI 2.28-5.23). Differing regulations about who does what in dementia management seemed to affect PCP's engagement in dementia investigations and assessment. PCPs who were allowed to prescribe dementia drugs also claimed higher engagement in dementia work-up than PCPs who were not allowed to prescribe.
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A Single Lab Test to Aid Pierre Robin Sequence Severity Diagnosis.
Fahradyan, Artur; Azadgoli, Beina; Tsuha, Michaela; Urata, Mark M; Francis, Stacey H
2018-01-01
The workup of patients with Pierre Robin sequence (PRS) consists of a physical examination, O 2 saturation, and polysomnography to determine the severity of respiratory obstruction and need for surgery. We suggest that capillary blood gas (CBG) may be a better physiologic representation of airway obstruction and should be routinely used in the management of patients with PRS. This is a multicenter study based on a retrospective review of medical records. The study was performed at tertiary care centers. Patients with PRS <1 year old underwent mandibular distraction osteogenesis. Using successful treatment outcome as a reference standard, receiver operating characteristic (ROC) curve was used to determine the accuracy of the diagnostic test and values for the best sensitivity and specificity to determine the need for surgical intervention. Of 73 patients, 48 had sporadic PRS, 23 had syndromes, 2 had micrognathia, not otherwise specified. Mandibular distraction osteogenesis was performed in 62 patients at a mean age of 39 days. The mean initial Apnea-Hypopnea Index (AHI) in nonsurgical versus surgical groups was 10 versus 31 ( P = .063), pH 7.41 versus 7.34 ( P = .003), pCO 2 43 versus 56 ( P < .001), and HCO 3 27 versus 30 ( P = .022). The ROC curve showed that pCO 2 of 49.5 has the best specificity (100%) and sensitivity (72.6%) profile in terms of need for definitive airway. A simple CBG heel stick may better predict the physiologic effects of obstructive apnea; therefore, it should be added to the algorithm of PRS workup.
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Cardiac metastases of Ewing sarcoma detected by 18F-FDG PET/CT.
Coccia, Paola; Ruggiero, Antonio; Rufini, Vittoria; Maurizi, Palma; Attinà, Giorgio; Marano, Riccardo; Natale, Luigi; Leccisotti, Lucia; Calcagni, Maria L; Riccardi, Riccardo
2012-04-01
Positron emission tomography (PET) is widely used in the diagnostic evaluation and staging of different malignant tumors. The role of PET/computed tomographic scan in detecting distant metastases in the workup of Ewing sarcoma in children or young adults is less well defined. We report a case of a boy affected by a metastatic Ewing sarcoma with cardiac asymptomatic metastasis detected by F-FDG PET/computed tomography.
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Pulvinar sign in a case of anti-HU paraneoplastic encephalitis
Gagnon, Maude-Marie; Savard, Martin; Émond, François
2016-01-01
This article reports the case of a 68-year-old patient with anti-HU antibodies paraneoplastic encephalitis. The clinical manifestations were atypical and the paraclinical work-up, notably the magnetic resonance imaging (MRI) showing bilateral posterior thalamic hyperintensities (pulvinar sign), misleadingly pointed towards a variant Creutzfeld–Jakob disease. After presenting the case, the differential diagnosis of the pulvinar sign is discussed along with other important diagnostic considerations. PMID:27558994
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Relieving Painful 'Shin Splints'.
Fick, Daniel S; Albright, John P; Murray, Boyd P
1992-12-01
In brief Shin splints, or more precisely, medial tibial stress syndrome (MTSS), are painful and troublesome. Despite treatment or activity modification, they often recur. Distinguishing MTSS, the most common running overuse injury, from other overuse injuries can help focus treatment, which starts conservatively. Recommending activity modification, ice massage, NSAIDs, and stretching is a good first step. Patients who don't respond to treatment may need additional diagnostic workup and more restrictive activity guidelines.
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Teodosio, Cristina; Mayado, Andrea; Sánchez-Muñoz, Laura; Morgado, José M; Jara-Acevedo, María; Álvarez-Twose, Ivan; García-Montero, Andrés C; Matito, Almudena; Caldas, Caldas; Escribano, Luis; Orfao, Alberto
2015-01-01
SM comprises a heterogeneous group of disorders, characterized by an abnormal accumulation of clonal MCs in 1 or more tissues, frequently involving the skin and BM. Despite the fact that most adult patients (>90%) carry the same genetic lesion (D816V KIT mutation), the disease presents with multiple variants with very distinct clinical and biologic features, a diverse prognosis, and different therapeutic requirements. Recent advances in the standardization of the study of BM MC by MFC allowed reproducible identification and characterization of normal/reactive MCs and their precursors, as well as the establishment of the normal MC maturational profiles. Analysis of large groups of patients versus normal/reactive samples has highlighted the existence of aberrant MC phenotypes in SM, which are essential for the diagnosis of the disease. In turn, 3 clearly distinct and altered maturation-associated immunophenotypic profiles have been reported recently in SM, which provide criteria for the distinction between ISM patients with MC-restricted and multilineage KIT mutation; thus, immunphenotyping also contributes to prognostic stratification of ISM, particularly when analysis of the KIT mutation on highly purified BM cells is not routinely available in the diagnostic work-up of the disease. © Society for Leukocyte Biology.
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Value of flexible bronchoscopy in the pre-operative work-up of solitary pulmonary nodules.
Schwarz, Carsten; Schönfeld, Nicolas; Bittner, Roland C; Mairinger, Thomas; Rüssmann, Holger; Bauer, Torsten T; Kaiser, Dirk; Loddenkemper, Robert
2013-01-01
The diagnostic value of flexible bronchoscopy in the pre-operative work-up of solitary pulmonary nodules (SPN) is still under debate among pneumologists, radiologists and thoracic surgeons. In a prospective observational manner, flexible bronchoscopy was routinely performed in 225 patients with SPN of unknown origin. Of the 225 patients, 80.5% had lung cancer, 7.6% had metastasis of an extrapulmonary primary tumour and 12% had benign aetiology. Unsuspected endobronchial involvement was found in 4.4% of all 225 patients (or in 5.5% of patients with lung cancer). In addition, flexible bronchoscopy clarified the underlying aetiology in 41% of the cases. The bronchoscopic biopsy results from the SPN were positive in 84 (46.5%) patients with lung cancer. Surgery was cancelled due to the results of flexible bronchoscopy in four cases (involvement of the right main bronchus (impaired pulmonary function did not allow pneumonectomy) n=1, small cell lung cancer n=1, bacterial pneumonia n=2), and the surgical strategy had to be modified to bilobectomy in one patient. Flexible bronchoscopy changed the planned surgical approach in five cases substantially. These results suggest that routine flexible bronchoscopy should be included in the regular pre-operative work-up of patients with SPN.
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Hillen, U; Häusermann, P; Massi, D; Janin, A; Wolff, D; Lawitschka, A; Greinix, H; Meyer, R; Ziemer, M
2015-05-01
Histopathological diagnosis including selection of lesions, the determination of the best point of time for biopsy and workup is not trivial in cutaneous graft-versus-host disease (GvHD). To develop interdisciplinary recommendations on performing, the laboratory work up and reporting of the results of skin biopsies in patients with suspected cutaneous GvHD. A working group consisting of dermatopathologists, dermatologists, transplant-physicians and transplant-pathologists prepared recommendations for performing skin biopsies, laboratory workup and evaluation of tissue samples, and reporting of the results in patients with cutaneous GvHD. After achieving a consensus within the working group, a survey that comprised the core issues of the recommendations was electronically sent out to 72 alloHSCT centres within Germany, Austria, and Switzerland and their Departments of Pathology. The answers were discussed in a Consensus Conference and final recommendations were established. Twenty-five centres responded to the clinical and 17 centres to the histopathological survey. Questions addressed to the clinicians comprised the indication for skin biopsy in chronic GvHD (cGvHD) and acute GvHD (aGvHD) and the appropriate point of time for skin biopsy. Eighty-eight per cent agreed that the skin biopsy is generally indicated in patients with suspected cGvHD lacking diagnostic features. In contrast, with suspected aGvHD, only 62% of respondents felt that skin biopsy was necessary even if GvHD had not been confirmed in another organ. Although restricted due to the fact that immunosuppression is often applied in an emergency setting most centres supported skin biopsies before initiation of topical or systemic immunosuppression. The majority of pathologists agreed that in non-sclerotic GvHD a punch biopsy is adequate, whereas in sclerotic GvHD a scalpel biopsy is preferred. While a consensus on the need for biopsies in cGvHD was reached the value of skin biopsies in aGvHD and subsequent biopsies during therapy requires further evaluation. © 2014 European Academy of Dermatology and Venereology.
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Are the classic diagnostic methods in mycology still state of the art?
Wiegand, Cornelia; Bauer, Andrea; Brasch, Jochen; Nenoff, Pietro; Schaller, Martin; Mayser, Peter; Hipler, Uta-Christina; Elsner, Peter
2016-05-01
The diagnostic workup of cutaneous fungal infections is traditionally based on microscopic KOH preparations as well as culturing of the causative organism from sample material. Another possible option is the detection of fungal elements by dermatohistology. If performed correctly, these methods are generally suitable for the diagnosis of mycoses. However, the advent of personalized medicine and the tasks arising therefrom require new procedures marked by simplicity, specificity, and swiftness. The additional use of DNA-based molecular techniques further enhances sensitivity and diagnostic specificity, and reduces the diagnostic interval to 24-48 hours, compared to weeks required for conventional mycological methods. Given the steady evolution in the field of personalized medicine, simple analytical PCR-based systems are conceivable, which allow for instant diagnosis of dermatophytes in the dermatology office (point-of-care tests). © 2016 Deutsche Dermatologische Gesellschaft (DDG). Published by John Wiley & Sons Ltd.
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Bartels, Stephan; Schipper, Elisa; Hasemeier, Britta; Kreipe, Hans; Lehmann, Ulrich
2018-05-27
The detection of hotspot mutations in key cancer genes is now an essential part of the diagnostic work-up in molecular pathology. Nearly all assays for mutation detection involve an amplification step. A second single nucleotide variant (SNV) on the same allele adjacent to a mutational hotspot can interfere with primer binding, leading to unnoticed allele-specific amplification of the wild type allele and thereby false-negative mutation testing. We present two diagnostic cases with false negative sequence results for JAK2 and SRSF2. In both cases mutations would have escaped detection if only one strand of DNA had been analysed. Because many commercially available diagnostic kits rely on the analysis of only one DNA strand they are prone to fail in cases like these. Detailed protocols and quality control measures to prevent corresponding pitfalls are presented. Copyright © 2017. Published by Elsevier Inc.
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Boyd, Scott D.; Natkunam, Yasodha; Allen, John R.; Warnke, Roger A.
2012-01-01
Determining the immunophenotype of hematologic malignancies is now an indispensible part of diagnostic classification, and can help to guide therapy, or to predict clinical outcome. Diagnostic workup should be guided by morphologic findings and evaluate clinically important markers, but ideally should avoid the use of overly-broad panels of immunostains that can reveal incidental findings of uncertain significance and give rise to increased costs. Here, we outline our approach to diagnosis of B cell neoplasms, combining histologic and clinical data with tailored panels of immunophenotyping reagents, in the context of the 2008 World Health Organization classification. We present data from cases seen at our institution from 2004-8 using this approach, to provide a practical reference for findings seen in daily diagnostic practice. PMID:22820658
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Aerophagia in adults: a comparison with functional dyspepsia.
Chitkara, D K; Bredenoord, A J; Rucker, M J; Talley, N J
2005-11-01
Aerophagia is a functional upper gastrointestinal disorder that has not previously been well described in a large patient group. To describe the initial evaluation of patients who presented with symptoms of aerophagia at a tertiary medical centre. A computerized search was used to identify all patients who were diagnosed with aerophagia at the Mayo Clinic, Rochester between 1996 and 2003 (n = 79). Individual medical charts were abstracted for information on the demographics, clinical features, co-morbid diagnoses, diagnostic workup and treatment. Information on presenting symptoms was also collected for a group of patients who were classified as having functional dyspepsia for comparison (n = 121). The median duration of symptoms in patients with aerophagia was 24 months. The most common symptoms were belching (56%), abdominal pain (19%), bloating (27%) and abdominal distension (19%). Patients with functional dyspepsia had a higher prevalence of reporting nausea, vomiting, early satiety, weight loss and abdominal pain (all P < 0.01, adjusting for age, gender and body mass index). Significantly more patients with aerophagia had anxiety (19%) than those with functional dyspepsia (6%, P < 0.01). Individuals with aerophagia experience prolonged upper gastrointestinal symptoms. Initial presenting symptoms appear to be distinctly different from those who have functional dyspepsia.
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Diagnostic staging laparoscopy in gastric cancer treatment: A cost-effectiveness analysis.
Li, Kevin; Cannon, John G D; Jiang, Sam Y; Sambare, Tanmaya D; Owens, Douglas K; Bendavid, Eran; Poultsides, George A
2018-05-01
Accurate preoperative staging helps avert morbidity, mortality, and cost associated with non-therapeutic laparotomy in gastric cancer (GC) patients. Diagnostic staging laparoscopy (DSL) can detect metastases with high sensitivity, but its cost-effectiveness has not been previously studied. We developed a decision analysis model to assess the cost-effectiveness of preoperative DSL in GC workup. Analysis was based on a hypothetical cohort of GC patients in the U.S. for whom initial imaging shows no metastases. The cost-effectiveness of DSL was measured as cost per quality-adjusted life-year (QALY) gained. Drivers of cost-effectiveness were assessed in sensitivity analysis. Preoperative DSL required an investment of $107 012 per QALY. In sensitivity analysis, DSL became cost-effective at a threshold of $100 000/QALY when the probability of occult metastases exceeded 31.5% or when test sensitivity for metastases exceeded 86.3%. The likelihood of cost-effectiveness increased from 46% to 93% when both parameters were set at maximum reported values. The cost-effectiveness of DSL for GC patients is highly dependent on patient and test characteristics, and is more likely when DSL is used selectively where procedure yield is high, such as for locally advanced disease or in detecting peritoneal and superficial versus deep liver lesions. © 2017 Wiley Periodicals, Inc.
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The Role of Interventional Radiology in the Diagnosis and Management of Male Impotence
DOE Office of Scientific and Technical Information (OSTI.GOV)
Spiliopoulos, Stavros; Shaida, Nadeem; Katsanos, Konstantinos
Erectile dysfunction (ED) is defined as the persistent inability to reach or maintain penile rigidity enough for sexual satisfaction. Nearly 30% of the men between ages 40 and 70 years are affected by ED. A variety of pathologies, including neurological, psychological, or endocrine disorders and drug side effects, may incite ED. A commonly identified cause of ED is vascular disease. Initial diagnostic workup includes a detailed physical examination and laboratory tests. Whilst duplex ultrasound is considered the first-line diagnostic modality, intra-arterial digital subtraction angiography is still considered the 'gold standard' for the diagnosis of arteriogenic impotence. Percutaneous endovascular treatment maymore » be offered in patients with vasculogenic ED that has failed to respond to oral medical therapy as an alternative to penile prosthesis or open surgical repair. In arteriogenic ED balloon angioplasty of the aorto-iliac axis, and in veno-occlusive ED, percutaneous venous ablation using various embolization materials has been reported to be safe and to improve sexual performance. Recently, the ZEN study investigated the safety and feasibility of drug-eluting stents for the treatment of arteriogenic ED attributed to internal pudendal artery stenosis with promising preliminary results. This manuscript highlights the role of interventional radiology in the diagnosis and minimally invasive treatment of male impotence.« less
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Guo, Shien; Getsios, Denis; Hernandez, Luis; Cho, Kelly; Lawler, Elizabeth; Altincatal, Arman; Lanes, Stephan; Blankenburg, Michael
2012-01-01
The growing understanding of the use of biomarkers in Alzheimer's disease (AD) may enable physicians to make more accurate and timely diagnoses. Florbetaben, a beta-amyloid tracer used with positron emission tomography (PET), is one of these diagnostic biomarkers. This analysis was undertaken to explore the potential value of florbetaben PET in the diagnosis of AD among patients with suspected dementia and to identify key data that are needed to further substantiate its value. A discrete event simulation was developed to conduct exploratory analyses from both US payer and societal perspectives. The model simulates the lifetime course of disease progression for individuals, evaluating the impact of their patient management from initial diagnostic work-up to final diagnosis. Model inputs were obtained from specific analyses of a large longitudinal dataset from the New England Veterans Healthcare System and supplemented with data from public data sources and assumptions. The analyses indicate that florbetaben PET has the potential to improve patient outcomes and reduce costs under certain scenarios. Key data on the use of florbetaben PET, such as its influence on time to confirmation of final diagnosis, treatment uptake, and treatment persistency, are unavailable and would be required to confirm its value. PMID:23326754
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Inherited and Acquired Muscle Weakness: A Moving Target for Diagnostic Muscle Biopsy.
Stenzel, Werner; Schoser, Benedikt
2017-08-01
Inherited and acquired muscular weakness is caused by multiple conditions. While the inherited ones are mostly caused by mutations in genes coding for myopathic or neurogenic diseases, the acquired ones occur due to inflammatory, endocrine, or toxic etiologies. Precise diagnosis of a specific disease may be challenging and may require a multidisciplinary approach. What is the current place for a diagnostic biopsy of skeletal muscle? Diagnostic muscle biopsy lost in this context its first-tier place in the primary diagnostic workup for some diseases, but it is still mandatory for others. We here summarize conditions in which we believe a diagnostic sample is most relevant and mention those in which a biopsy may be secondary or can even be left out. We would like to stress that muscle biopsy nowadays has a new important place in description and definition of new diseases, for example, discovered by modern genetic approaches. Georg Thieme Verlag KG Stuttgart, New York.
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Michelitsch, C; Acklin, Y P; Stoffel, K; Bereiter, H
2014-04-01
It is often difficult in the acute phase to diagnose a lesion of the distal tibiofibular syndesmosis. If this lesion is overlooked, the patient will develop an incongruity of the upper ankle joint with a pathological external rotation of the talus. The risk of a possible premature arthritis is clearly increased. In this case study a distal rupture of the syndesmosis in a young patient was overlooked in the initial diagnostic work-up. A search of the relevant literature and a case report. In the case described the shortened fibula and chronic instability of the tibiofibular syndesmosis were repaired with a lengthening and derotational osteotomy and reconstruction using the gracilis muscle tendon. Through this method an exact reconstruction of the normal anatomy could be achieved. Posttraumatic misalignment in the ankle joint is associated with a high risk of secondary degenerative lesions. In cases with suspicion of a syndesmosis lesion, confirmation of the diagnosis is imperative so as to perform an anatomic repositioning and reconstruction of stability.
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Acute and chronic pancreatitis: surgical management.
Dzakovic, Alexander; Superina, Riccardo
2012-08-01
Pancreatitis is becoming increasingly prevalent in children, posing new challenges to pediatric health care providers. Although some general adult treatment paradigms are applicable in the pediatric population, diagnostic workup and surgical management of acute and chronic pancreatitis have to be tailored to anatomic and pathophysiological entities peculiar to children. Nonbiliary causes of acute pancreatitis in children are generally managed nonoperatively with hydration, close biochemical and clinical observation, and early initiation of enteral feeds. Surgical intervention including cholecystectomy or endoscopic retrograde cholangiopancreatography is often required in acute biliary pancreatitis, whereas infected pancreatic necrosis remains a rare absolute indication for pancreatic debridement and drainage via open, laparoscopic, or interventional radiologic procedure. Chronic pancreatitis is characterized by painful irreversible changes of the parenchyma and ducts, which may result in or be caused by inadequate ductal drainage. A variety of surgical procedures providing drainage, denervation, resection, or a combination thereof are well established to relieve pain and preserve pancreatic function. Copyright © 2012. Published by Elsevier Inc.
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Sipos, Jennifer A; Kahaly, George J
2012-09-01
The diagnostic algorithm for patients with Graves' disease frequently involves the use of thyroid autoantibody testing and radioisotope scanning (full text available online: http://education.amjmed.com/pp1/248). However, ultrasound has myriad uses in the evaluation of patients with hyperthyroidism. The purpose of this paper is to review the medical literature outlining the important role that ultrasonography (US) can play in the diagnosis and management of patients with hyperthyroidism. We will make a case for the use of ultrasonography in the initial evaluation of all patients with thyrotoxicosis. This review will delineate the advantages of ultrasonography compared to nuclear medicine imaging in determining the etiology of the hyperthyroidism. The role of sonography in predicting remission and relapse of Graves' disease will also be examined. Finally, this paper will detail the importance of ultrasonography in the workup of hyperthyroidism during pregnancy. We will also outline its utility for predicting fetal thyroid dysfunction in maternal Graves' disease without the need for cordocentesis and its attendant complications. Copyright © 2012. Published by Elsevier Inc.
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Go, Ronald S; Winters, Jeffrey L; Leung, Nelson; Murray, David L; Willrich, Maria A; Abraham, Roshini S; Amer, Hatem; Hogan, William J; Marshall, Ariela L; Sethi, Sanjeev; Tran, Cheryl L; Chen, Dong; Pruthi, Rajiv K; Ashrani, Aneel A; Fervenza, Fernando C; Cramer, Carl H; Rodriguez, Vilmarie; Wolanskyj, Alexandra P; Thomé, Stephan D; Hook, C Christopher
2016-09-01
Thrombotic microangiopathies (TMAs) comprise a heterogeneous set of conditions linked by a common histopathologic finding of endothelial damage resulting in microvascular thromboses and potentially serious complications. The typical clinical presentation is microangiopathic hemolytic anemia accompanied by thrombocytopenia with varying degrees of organ ischemia. The differential diagnoses are generally broad, while the workup is frequently complex and can be confusing. This statement represents the joint recommendations from a multidisciplinary team of Mayo Clinic physicians specializing in the management of TMA. It comprises a series of evidence- and consensus-based clinical pathways developed to allow a uniform approach to the spectrum of care including when to suspect TMA, what differential diagnoses to consider, which diagnostic tests to order, and how to provide initial empiric therapy, as well as some guidance on subsequent management. Copyright © 2016 Mayo Foundation for Medical Education and Research. Published by Elsevier Inc. All rights reserved.
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Ambiguous genitalia, gender-identity problems, and sex reassignment.
Dittmann, R W
1998-01-01
This article discusses general issues with regard to gender-identity problems, sex reassignment, and clinical management in patients with ambiguous genitalia, based on a detailed case history of a patient with penile agenesis who has been followed more than 20 years. After initial uncertainty, the patient began to grow up as a boy, lived from the fourth year of life as a girl and young woman, and lived from late puberty on as a man. Over his lifetime he experienced extensive corrective surgery plus hormonal substitution therapy. Pre- and perinatal hormonal conditions, phenomenology of the genitalia, sex of rearing, timing of sex reassignment and corrective surgery, for example, appear to be important components for the development of gender-role behavior, gender identity, and sexual orientation of intersex patients. Findings and retrospective considerations for this patient suggest the need for careful differential activities in diagnostic workup, approaches to sex assignment and possible reassignment, and the clinical management of patients and families.
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Classic Kaposi's sarcoma presenting in the oral cavity of two HIV-negative Quechua patients.
Mohanna, Salim; Bravo, Francisco; Ferrufino, Juan Carlos; Sanchez, Juvenal; Gotuzzo, Eduardo
2007-09-01
Traditionally, classic KS lesions have a general distribution, often involving the skin of the feet and legs, and to a lesser extent, that of the hands, arms, and trunk. Oral involvement is a rare manifestation. Initial oral involvement is an even rarer occurrence. We report two unusual cases of classic KS presenting in the oral cavity of two patients from indigenous origin; the first patient with primary oral KS lesion on the hard palate, with no other signs of the condition in any other region of the body; the second patient with generalized dermal KS lesions with lymph node and lower lip involvement. In conclusion, clinicians and pathologists should be aware of the typical clinical, gross, and histologic features of KS. Moreover, we would like to emphasize that oral KS may affect patients without AIDS or exposure to immunosuppression. The awareness of oral classic KS as a diagnostic possibility is important in the work-up of vascular lesions in the oral cavity of non-immunosuppressed individuals.
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Lung Cancer in the Oldest Old: A Nation-Wide Study in The Netherlands.
Schulkes, Karlijn J G; Pouw, Carin A M; Driessen, Elisabeth J M; van Elden, Leontine J R; van den Bos, Frederiek; Janssen-Heijnen, Maryska L G; Lammers, Jan-Willem J; Hamaker, Marije E
2017-10-01
An important step in improving research and care for the oldest patients with lung cancer is analyzing current data regarding diagnostic work-up, treatment choices, and survival. We analyzed data on lung cancer from the Netherlands Cancer Registry (NCR-IKNL) regarding diagnostic work-up, treatment, and survival in different age categories; the oldest old (≥85 years of age) versus those aged 71-84 (elderly) and those aged ≤70 years (younger patients). 47,951 patients were included in the 2010-2014 NCR database. 2196 (5%) patients were aged ≥85 years. Histological diagnosis was obtained significantly less often in the oldest old (38%, p < 0.001), and less standard treatment regimen was given (8%, p < 0.001) compared to elderly and younger patients. 67% of the oldest old received best supportive care only versus 38% of the elderly and 20% of the younger patients (p < 0.001). For the oldest old receiving standard treatment, survival rates were similar in comparison with the elderly patients. In the oldest old, no survival differences were found when comparing standard or adjusted regimens for stage I and IV NSCLC; for stage III, oldest old receiving standard treatment had longer survival. No oldest old patients with stage II received standard treatment. Clinicians make limited use of diagnostics and invasive treatment in the oldest old; however, selected oldest old patients experienced similar survival rates as the elderly when receiving some form of anticancer therapy (standard or adjusted). More research is needed to further develop individualized treatment algorithms.
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Virtual reality in rhinology-a new dimension of clinical experience.
Klapan, Ivica; Raos, Pero; Galeta, Tomislav; Kubat, Goranka
2016-07-01
There is often a need to more precisely identify the extent of pathology and the fine elements of intracranial anatomic features during the diagnostic process and during many operations in the nose, sinus, orbit, and skull base region. In two case reports, we describe the methods used in the diagnostic workup and surgical therapy in the nose and paranasal sinus region. Besides baseline x-ray, multislice computed tomography, and magnetic resonance imaging, operative field imaging was performed via a rapid prototyping model, virtual endoscopy, and 3-D imaging. Different head tissues were visualized in different colors, showing their anatomic interrelations and the extent of pathologic tissue within the operative field. This approach has not yet been used as a standard preoperative or intraoperative procedure in otorhinolaryngology. In this way, we tried to understand the new, visualized "world of anatomic relations within the patient's head" by creating an impression of perception (virtual perception) of the given position of all elements in a particular anatomic region of the head, which does not exist in the real world (virtual world). This approach was aimed at upgrading the diagnostic workup and surgical therapy by ensuring a faster, safer and, above all, simpler operative procedure. In conclusion, any ENT specialist can provide virtual reality support in implementing surgical procedures, with additional control of risks and within the limits of normal tissue, without additional trauma to the surrounding tissue in the anatomic region. At the same time, the virtual reality support provides an impression of the virtual world as the specialist navigates through it and manipulates virtual objects.
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Update on community-acquired bacterial meningitis: guidance and challenges.
van Ettekoven, C N; van de Beek, D; Brouwer, M C
2017-09-01
The existing heterogeneity in diagnostic work-up and treatment strategies in bacterial meningitis was the incentive to develop a European evidence-based guideline, which was published in 2016 by the European Society of Clinical Microbiology and Infectious Diseases (ESCMID) Study Group on Infections of the Brain (ESGIB). To summarize salient features of the guideline, identify recent developments and challenges currently faced. The ESCMID guideline, ongoing trial registries. Epidemiology, clinical symptoms, diagnostic work-up and therapy strategies of acute bacterial meningitis. The incidence of bacterial meningitis has decreased following pneumococcal and meningococcal conjugate vaccine introduction. In the diagnosis of bacterial meningitis the clinical characteristics and laboratory parameters are of limited diagnostic accuracy and therefore cerebrospinal fluid analysis remains the principal contributor to the final diagnosis. The ESCMID guideline advises to start empiric treatment within one hour of arrival in all suspected meningitis cases, and choice of antibiotics needs to be differentiated according to the patient's age, risk factors, and local resistance rates of pneumococci. Dexamethasone is the only proven adjunctive treatment and should be started together with the antibiotics. The follow-up of surviving patients should include evaluation for hearing loss and pneumococcal vaccination to prevent recurrences. Future perspectives include further development and implementation of vaccines, and new treatments aimed at further reducing the inflammatory response. Studies on implementation of the new guideline should determine adherence and evaluate whether improved prognosis can be achieved by following protocolled management strategies. Copyright © 2017 European Society of Clinical Microbiology and Infectious Diseases. Published by Elsevier Ltd. All rights reserved.
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Synovial Calprotectin: An Inexpensive Biomarker to Exclude a Chronic Prosthetic Joint Infection.
Wouthuyzen-Bakker, Marjan; Ploegmakers, Joris J W; Ottink, Karsten; Kampinga, Greetje A; Wagenmakers-Huizenga, Lucie; Jutte, Paul C; Kobold, Anneke C M
2018-04-01
To diagnose or exclude a chronic prosthetic joint infection (PJI) can be a clinical challenge. Therefore, sensitive and specific biomarkers are needed in the diagnostic work-up. Calprotectin is a protein with antimicrobial properties and is released by activated neutrophils, making it a specific marker for infection. Because of its low costs and ability to obtain a quantitative value as a point of care test, it is an attractive marker to use in clinical practice. In addition, the test is already used in routine care in most hospitals for other indications and therefore easy to implement. Between June 2015 and June 2017 we collected synovial fluid of all consecutive patients who underwent revision surgery of a prosthetic joint because of chronic pain with or without prosthetic loosening. Synovial calprotectin was measured using a lateral flow immunoassay. A PJI was defined by the diagnostic criteria described by the Musculoskeletal Infection Society. Fifty-two patients with chronic pain were included. A PJI was diagnosed in 15 of 52 (29%) patients. The median calprotectin in the PJI group was 859 mg/L (interquartile range 86-1707) vs 7 mg/L (interquartile range 3-25) in the control group (P < .001). With a cut-off value of 50 mg/L, synovial calprotectin showed a sensitivity, specificity, positive predictive value, and negative predictive value of 86.7%, 91.7%, 81.3%, and 94.4%, respectively. Synovial calprotectin is a useful and cheap biomarker to use in the diagnostic work-up of patients with chronic pain, especially to exclude a PJI prior to revision surgery. Copyright © 2017 Elsevier Inc. All rights reserved.
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Riedel thyroiditis: Fine needle aspiration findings of a rare entity.
Weidner, Anna-Sophie; Molina, David; DeSimone, Robert A; Cohen, Marc A; Giorgadze, Tamar; Scognamiglio, Theresa; Hoda, Rana S
2015-09-01
Riedel thyroiditis is a rare fibrosing disorder characterized by extension of the fibroinflammatory process beyond the thyroid capsule. Due to the nature of this lesion, fine-needle aspiration often yields scant material and may be interpreted as non-diagnostic. In this report, we describe cytologic features that allow the cytopathologist to favor a diagnosis of Riedel thyroiditis, thereby guiding appropriate further work-up and management. © 2015 Wiley Periodicals, Inc.
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Impact of molecular imaging on the diagnostic process in a memory clinic.
Ossenkoppele, Rik; Prins, Niels D; Pijnenburg, Yolande A L; Lemstra, Afina W; van der Flier, Wiesje M; Adriaanse, Sofie F; Windhorst, Albert D; Handels, Ron L H; Wolfs, Claire A G; Aalten, Pauline; Verhey, Frans R J; Verbeek, Marcel M; van Buchem, Mark A; Hoekstra, Otto S; Lammertsma, Adriaan A; Scheltens, Philip; van Berckel, Bart N M
2013-07-01
[(11)C]Pittsburgh compound B ([(11)C]PIB) and [(18)F]-2-fluoro-2-deoxy-D-glucose ([(18)F]FDG) PET measure fibrillar amyloid-β load and glucose metabolism, respectively. We evaluated the impact of these tracers on the diagnostic process in a memory clinic population. One hundred fifty-four patients underwent paired dynamic [(11)C]PIB and static [(18)F]FDG PET scans shortly after completing a standard dementia screening. Two-year clinical follow-up data were available for 39 patients. Parametric PET images were assessed visually and results were reported to the neurologists responsible for the initial diagnosis. Outcome measures were (change in) clinical diagnosis and confidence in that diagnosis before and after disclosing PET results. [(11)C]PIB scans were positive in 40 of 66 (61%) patients with a clinical diagnosis of Alzheimer's disease (AD), 5 of 18 (28%) patients with frontotemporal dementia (FTD), 4 of 5 (80%) patients with Lewy body dementia, and 3 of 10 (30%) patients with other dementias. [(18)F]FDG uptake patterns matched the clinical diagnosis in 38 of 66 (58%) of AD patients, and in 6 of 18 (33%) FTD patients. PET results led to a change in diagnosis in 35 (23%) patients. This only occurred when prior diagnostic certainty was <90%. Diagnostic confidence increased from 71 ± 17% before to 87 ± 16% after PET (p < .001). Two-year clinical follow-up (n = 39) showed that [(11)C]PIB and [(18)F]FDG predicted progression to AD for patients with mild cognitive impairment, and that the diagnosis of dementia established after PET remained unchanged in 96% of patients. In a memory clinic setting, combined [(11)C]PIB and [(18)F]FDG PET are of additional value on top of the standard diagnostic work-up, especially when prior diagnostic confidence is low. Copyright © 2013 The Alzheimer's Association. Published by Elsevier Inc. All rights reserved.
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Kawecki, Damian; Morawiec, Beata; Monney, Pierre; Pellaton, Cyril; Wojciechowska, Celina; Jojko, Joanna; Basiak, Marcin; Przywara-Chowaniec, Brygida; Fournier, Stephane; Nowalany-Kozielska, Ewa; Schwitter, Juerg; Muller, Olivier
2015-01-14
In spite of robust knowledge about underlying ischemic myocardial damage, acute coronary syndromes (ACS) with culprit-free angiograms raise diagnostic concerns. The present study aimed to evaluate the additional value of cardiac magnetic resonance (CMR) over commonly available non-CMR standard tests, for the differentiation of myocardial injury in patients with ACS and non-obstructed coronary arteries. Patients with ACS, elevated hs-TnT, and a culprit-free angiogram were prospectively enrolled into the study between January 2009 and July 2013. After initial evaluation with standard tests (ECG, echocardiography, hs-TnT) and provisional exclusion of acute myocardial infarction (AMI) in coronary angiogram, patients were referred for CMR with the suspicion of myocarditis or Takotsubo cardiomyopathy (TTC). According to the result of CMR, patients were reclassified as having myocarditis, AMI, TTC, or non-injured myocardium as assessed by late gadolinium enhancement. Out of 5110 patients admitted with ACS, 75 had normal coronary angiograms and entered the study; 69 of them (92%) were suspected for myocarditis and 6 (8%) for TTC. After CMR, 49 patients were finally diagnosed with myocarditis (65%), 3 with TTC (4%), 7 with AMI (9%), and 16 (21%) with non-injured myocardium. The provisional diagnosis was changed or excluded in 23 patients (31%), with a 9% rate of unrecognized AMI. The study results suggest that the evaluation of patients with ACS and culprit-free angiogram should be complemented by a CMR examination, if available, because the initial work-up with non-CMR tests leads to a significant proportion of misdiagnosed AMI.
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Weber, Brittany C; Whitlock, Scott M; He, Kaidi; Kimbrell, Blake S; Derkay, Craig S
2018-04-12
To evaluate the prevalence of middle ear disease in infants referred for failed newborn hearing screening (NBHS) and to review patient outcomes after intervention in order to propose an evidence-based protocol for management of newborns with otitis media with effusion (OME) who fail NBHS. 85 infants with suspected middle ear pathology were retrospectively reviewed after referral for failed NBHS. All subjects underwent a diagnostic microscopic exam with myringotomy with or without placement of a ventilation tube in the presence of a middle ear effusion and had intra-operative auditory brainstem response (ABR) testing or testing at a later date. At the initial office visit, a normal middle ear space bilaterally was documented in 5 babies (6%), 29/85 (34%) had an equivocal exam while 51/85 (60%) had at least a unilateral OME. Myringotomy with or without tube placement due to presence of an effusion was performed on 65/85 (76%) neonates. Normal hearing was established in 17/85 (20%) after intervention, avoiding the need for any further audiologic workup. Bilateral or unilateral sensorineural hearing loss (SNHL) or mixed hearing loss was noted in 54/85 (64%) and these children were referred for amplification. Initially observation with follow up outpatient visits was initiated in 27/85 (32%) however, only 3/27 (11%) resolved with watchful waiting and 24/27 (89%) ultimately required at least unilateral tube placement due to OME and 14/24 (59%) were found to have at least a unilateral mixed or SNHL. An effective initial management plan for children with suspected middle ear pathology and failed NBHS is diagnostic operative microscopy with placement of a ventilation tube in the presence of a MEE along with either intra-operative ABR or close follow-up ABR. This allows for the identification and treatment of babies with a conductive component due to OME, accurate diagnosing of an underlying SNHL component and for prompt aural rehabilitation. Copyright © 2018 Elsevier Inc. All rights reserved.
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Jain, Avani; Srivastava, Madhur Kumar; Pawaskar, Alok Suresh; Shelley, Simon; Elangovan, Indirani; Jain, Hasmukh; Pandey, Somnath; Kalal, Shilpa; Amalachandran, Jaykanth
2015-01-01
Background: To evaluate the advantages of contrast enhanced F-18-fluorodeoxyglucose (FDG) positron emission tomography-computed tomography (PET-contrast enhanced CT [CECT]) when used as an initial imaging modality in patients presenting with metastatic malignancy of undefined primary origin (MUO). Materials and Methods: A total of 243 patients with fine needle aspiration cytology/biopsy proven MUO were included in this prospective study. Patients who were thoroughly evaluated for primary or primary tumor was detected by any other investigation were excluded from the analysis. Totally, 163 patients with pathological diagnosis of malignancy but no apparent sites of the primary tumor were finally selected for analysis. The site of probable primary malignancy suggested by PET-CECT was confirmed by biopsy/follow-up. Results: PET-CECT suggested probable site of primary in 128/163 (78.52%) patients. In 30/35 remaining patients, primary tumor was not detected even after extensive work-up. In 5 patients, where PET-CECT was negative, primary was found on further extensive investigations or follow-up. The sensitivity, specificity, positive predictive value and negative predictive value of the study were 95.76%, 66.67%, 88.28% and 85.71% respectively. Conclusions: F-18 FDG PET-CECT aptly serves the purpose of initial imaging modality owing to high sensitivity, negative and positive predictive value. PET-CECT not only surveys the whole body for the primary malignancy but also stages the disease accurately. Use of contrast improves the diagnostic utility of modality as well as help in staging of the primary tumor. Although benefits of using PET-CECT as initial diagnostic modality are obvious from this study, there is a need for a larger study comparing conventional methods for diagnosing primary in patients with MUO versus PET-CECT. PMID:26170563
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Algorithm for Video Summarization of Bronchoscopy Procedures
2011-01-01
Background The duration of bronchoscopy examinations varies considerably depending on the diagnostic and therapeutic procedures used. It can last more than 20 minutes if a complex diagnostic work-up is included. With wide access to videobronchoscopy, the whole procedure can be recorded as a video sequence. Common practice relies on an active attitude of the bronchoscopist who initiates the recording process and usually chooses to archive only selected views and sequences. However, it may be important to record the full bronchoscopy procedure as documentation when liability issues are at stake. Furthermore, an automatic recording of the whole procedure enables the bronchoscopist to focus solely on the performed procedures. Video recordings registered during bronchoscopies include a considerable number of frames of poor quality due to blurry or unfocused images. It seems that such frames are unavoidable due to the relatively tight endobronchial space, rapid movements of the respiratory tract due to breathing or coughing, and secretions which occur commonly in the bronchi, especially in patients suffering from pulmonary disorders. Methods The use of recorded bronchoscopy video sequences for diagnostic, reference and educational purposes could be considerably extended with efficient, flexible summarization algorithms. Thus, the authors developed a prototype system to create shortcuts (called summaries or abstracts) of bronchoscopy video recordings. Such a system, based on models described in previously published papers, employs image analysis methods to exclude frames or sequences of limited diagnostic or education value. Results The algorithm for the selection or exclusion of specific frames or shots from video sequences recorded during bronchoscopy procedures is based on several criteria, including automatic detection of "non-informative", frames showing the branching of the airways and frames including pathological lesions. Conclusions The paper focuses on the challenge of generating summaries of bronchoscopy video recordings. PMID:22185344
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Diagnostic value of imaging in infective endocarditis: a systematic review.
Gomes, Anna; Glaudemans, Andor W J M; Touw, Daan J; van Melle, Joost P; Willems, Tineke P; Maass, Alexander H; Natour, Ehsan; Prakken, Niek H J; Borra, Ronald J H; van Geel, Peter Paul; Slart, Riemer H J A; van Assen, Sander; Sinha, Bhanu
2017-01-01
Sensitivity and specificity of the modified Duke criteria for native valve endocarditis are both suboptimal, at approximately 80%. Diagnostic accuracy for intracardiac prosthetic material-related infection is even lower. Non-invasive imaging modalities could potentially improve diagnosis of infective endocarditis; however, their diagnostic value is unclear. We did a systematic literature review to critically appraise the evidence for the diagnostic performance of these imaging modalities, according to PRISMA and GRADE criteria. We searched PubMed, Embase, and Cochrane databases. 31 studies were included that presented original data on the performance of electrocardiogram (ECG)-gated multidetector CT angiography (MDCTA), ECG-gated MRI, 18 F-fluorodeoxyglucose ( 18 F-FDG) PET/CT, and leucocyte scintigraphy in diagnosis of native valve endocarditis, intracardiac prosthetic material-related infection, and extracardiac foci in adults. We consistently found positive albeit weak evidence for the diagnostic benefit of 18 F-FDG PET/CT and MDCTA. We conclude that additional imaging techniques should be considered if infective endocarditis is suspected. We propose an evidence-based diagnostic work-up for infective endocarditis including these non-invasive techniques. Copyright © 2017 Elsevier Ltd. All rights reserved.
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Memish, Z A; Arabi, Y M; Ahmed, Q A; Al Jahdali, H; Shibl, A M; Niederman, M S
2007-10-01
Community-acquired pneumonia (CAP) is diagnosed on the basis of a suggestive history and compatible physical findings and new infiltrates on a chest radiograph. No criteria or combination of criteria based on history and physical examination have been found to be gold standard. With the rise in elderly Gulf Cooperation Council (GCC) residents, CAP is likely to present with non-classical manifestations such as somnolence, new anorexia, and confusion and carries a worse outcome than CAP in their younger counterparts. Tuberculosis should be considered in the differential diagnosis of unresolving CAP in the GCC region. Diagnostic work up depends on severity of CAP, clinical course and underlying risk factors.
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[Recurrent vulvovaginitis: diagnostic assessment and therapeutic management].
Ramírez-Santos, A; Pereiro, M; Toribio, J
2008-04-01
Recurrent vulvovaginitis is a common problem in clinical practice. Management is often complicated by a long history of inappropriate treatments based on tentative diagnoses after an incomplete diagnostic workup. We review the most common causes of recurrent vulvovaginitis; the appropriate steps with which to establish a diagnosis, from the medical history through to the additional tests needed; and, finally, the best therapeutic options. We will focus on infectious, irritant, allergic, and hormonal causes as the ones of most interest to the dermatologist. Given that infection is the most frequent cause of these processes and also a common reason for inopportune treatment, we will pay particular attention to infectious etiologies and their differential diagnosis.
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Pathogenesis, imaging and clinical characteristics of CF and non-CF bronchiectasis.
Schäfer, Jürgen; Griese, Matthias; Chandrasekaran, Ravishankar; Chotirmall, Sanjay H; Hartl, Dominik
2018-05-22
Bronchiectasis is a common feature of severe inherited and acquired pulmonary disease conditions. Among inherited diseases, cystic fibrosis (CF) is the major disorder associated with bronchiectasis, while acquired conditions frequently featuring bronchiectasis include post-infective bronchiectasis and chronic obstructive pulmonary disease (COPD). Mechanistically, bronchiectasis is driven by a complex interplay of inflammation and infection with neutrophilic inflammation playing a predominant role. The clinical characterization and management of bronchiectasis should involve a precise diagnostic workup, tailored therapeutic strategies and pulmonary imaging that has become an essential tool for the diagnosis and follow-up of bronchiectasis. Prospective future studies are required to optimize the diagnostic and therapeutic management of bronchiectasis, particularly in heterogeneous non-CF bronchiectasis populations.
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Sudden suffocation with cancer of unknown primary: a case report and review of diagnostic approach.
Tehrani, Omid S; Ahmad, Omar; Vypritskaya, Ekaterina; Chen, Emily; Hasan, Saba
2012-10-01
A case of a 31-year-old woman with sudden respiratory distress is presented. Preliminary evaluations and imaging studies did not reveal the underlying cause. Workup during hospital stay showed advanced metastatic cancer of unknown primary origin. This is an unusual presentation of cancer of an unknown primary involving the thyroid with sudden suffocation. It suggests that malignancies involving the thyroid gland should be considered in patients with abrupt onset of respiratory distress. Also, this case shows the application of fine needle aspiration in diffuse thyroid enlargements mimicking thyroiditis without nodules. Diagnostic approach to cancer of unknown primary origin (CUP) is reviewed in further detail.
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Shortness of Breath and Lower Limb Edema in a 54-Year-Old Woman, Is There Any Cure?
Frogoudaki, Alexandra; Triantafyllis, Andreas S; Vassilatou, Evangeline; Tsamakis, Charalampos; Zacharoulis, Achilles; Lekakis, John
2016-02-01
Pulmonary hypertension is common among patients with hyperthyroidism, and Graves' disease constitutes the most common cause of thyrotoxicosis. We report the case of a female patient admitted to the cardiology department with shortness of breath and pretibial myxedema. The diagnostic work-up revealed combined pre- and post-capillary pulmonary hypertension due to Graves' disease superimposed on left ventricular diastolic dysfunction. Restoration of thyroid function led to normalization of the pulmonary pressure and symptom resolution. Thyroid disease is a cause of reversible pulmonary hypertension and thus should be appropriately considered in the diagnostic algorithm in patients with dyspnea, clinical signs of hyperthyroidism and elevated pulmonary pressure.
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Phantom bite: a real or a phantom diagnosis? A case report.
Sutter, Ben A
2017-01-01
This case report describes computer-guided occlusal therapy in a patient who met the unified diagnostic criteria for phantom bite. After a review of the patient's medical history, along with a diagnostic work-up that included cone beam computed tomography, temporomandibular joint vibration analysis, and digital occlusal analysis, problematic dental components were discovered (including prolonged disclusion time and imbalanced bite force). A digital occlusal analyzer evaluated the patient's occlusion and systematically guided the necessary changes. After reduction of the disclusion time and correction of the occlusal force imbalance, the patient reported significant improvement in comfort. The results suggest that phantom bite could be an abnormal occlusal condition and not a psychological or neurologic somatoform disorder.
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Goyal, Surbhi; Goyal, Ankur; Mahajan, Surbhi; Sharma, Shikha; Dev, Geeta
2014-01-01
Abnormal uterine bleeding in the postabortal period requires meticulous diagnostic work-up to decide proper management. Imaging modalities including Doppler sonography and magnetic resonance imaging in concert with clinical and laboratory findings are useful to narrow the differential diagnoses but are not definitive. Presence of increased uterine vascularity and arteriovenous shunting is non-specific and can be detected in a variety of conditions including retained trophoblastic tissue, gestational trophoblastic disease, arteriovenous malformation (AVM), placental polyp and vascular neoplasm. We present here a case of a multiparous woman with unexplained postabortal bleeding posing a diagnostic challenge. Excluding the possibility of AVM before attempting dilatation and curettage in such a clinical scenario is crucial to prevent catastrophic bleeding. © 2013 The Authors. Journal of Obstetrics and Gynaecology Research © 2013 Japan Society of Obstetrics and Gynecology.
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Ghaneh, Paula; Hanson, Robert; Titman, Andrew; Lancaster, Gill; Plumpton, Catrin; Lloyd-Williams, Huw; Yeo, Seow Tien; Edwards, Rhiannon Tudor; Johnson, Colin; Abu Hilal, Mohammed; Higginson, Antony P; Armstrong, Tom; Smith, Andrew; Scarsbrook, Andrew; McKay, Colin; Carter, Ross; Sutcliffe, Robert P; Bramhall, Simon; Kocher, Hemant M; Cunningham, David; Pereira, Stephen P; Davidson, Brian; Chang, David; Khan, Saboor; Zealley, Ian; Sarker, Debashis; Al Sarireh, Bilal; Charnley, Richard; Lobo, Dileep; Nicolson, Marianne; Halloran, Christopher; Raraty, Michael; Sutton, Robert; Vinjamuri, Sobhan; Evans, Jonathan; Campbell, Fiona; Deeks, Jon; Sanghera, Bal; Wong, Wai-Lup; Neoptolemos, John P
2018-02-01
Pancreatic cancer diagnosis and staging can be difficult in 10-20% of patients. Positron emission tomography (PET)/computed tomography (CT) adds precise anatomical localisation to functional data. The use of PET/CT may add further value to the diagnosis and staging of pancreatic cancer. To determine the incremental diagnostic accuracy and impact of PET/CT in addition to standard diagnostic work-up in patients with suspected pancreatic cancer. A multicentre prospective diagnostic accuracy and clinical value study of PET/CT in suspected pancreatic malignancy. Patients with suspected pancreatic malignancy. All patients to undergo PET/CT following standard diagnostic work-up. The primary outcome was the incremental diagnostic value of PET/CT in addition to standard diagnostic work-up with multidetector computed tomography (MDCT). Secondary outcomes were (1) changes in patients' diagnosis, staging and management as a result of PET/CT; (2) changes in the costs and effectiveness of patient management as a result of PET/CT; (3) the incremental diagnostic value of PET/CT in chronic pancreatitis; (4) the identification of groups of patients who would benefit most from PET/CT; and (5) the incremental diagnostic value of PET/CT in other pancreatic tumours. Between 2011 and 2013, 589 patients with suspected pancreatic cancer underwent MDCT and PET/CT, with 550 patients having complete data and in-range PET/CT. Sensitivity and specificity for the diagnosis of pancreatic cancer were 88.5% and 70.6%, respectively, for MDCT and 92.7% and 75.8%, respectively, for PET/CT. The maximum standardised uptake value (SUV max. ) for a pancreatic cancer diagnosis was 7.5. PET/CT demonstrated a significant improvement in relative sensitivity ( p = 0.01) and specificity ( p = 0.023) compared with MDCT. Incremental likelihood ratios demonstrated that PET/CT significantly improved diagnostic accuracy in all scenarios ( p < 0.0002). PET/CT correctly changed the staging of pancreatic cancer in 56 patients ( p = 0.001). PET/CT influenced management in 250 (45%) patients. PET/CT stopped resection in 58 (20%) patients who were due to have surgery. The benefit of PET/CT was limited in patients with chronic pancreatitis or other pancreatic tumours. PET/CT was associated with a gain in quality-adjusted life-years of 0.0157 (95% confidence interval -0.0101 to 0.0430). In the base-case model PET/CT was seen to dominate MDCT alone and is thus highly likely to be cost-effective for the UK NHS. PET/CT was seen to be most cost-effective for the subgroup of patients with suspected pancreatic cancer who were thought to be resectable. PET/CT provided a significant incremental diagnostic benefit in the diagnosis of pancreatic cancer and significantly influenced the staging and management of patients. PET/CT had limited utility in chronic pancreatitis and other pancreatic tumours. PET/CT is likely to be cost-effective at current reimbursement rates for PET/CT to the UK NHS. This was not a randomised controlled trial and therefore we do not have any information from patients who would have undergone MDCT only for comparison. In addition, there were issues in estimating costs for PET/CT. Future work should evaluate the role of PET/CT in intraductal papillary mucinous neoplasm and prognosis and response to therapy in patients with pancreatic cancer. Current Controlled Trials ISRCTN73852054 and UKCRN 8166. The National Institute for Health Research Health Technology Assessment programme.
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Allergy to antibiotics in children: an overestimated problem.
Esposito, Susanna; Castellazzi, Luca; Tagliabue, Claudia; Principi, Nicola
2016-10-01
Antibiotics are the most prescribed drugs for children, and a relevant number of prescriptions are associated with the emergence of adverse events. Allergic reactions are the most frequently reported adverse events, with an incidence of up to 10% of all prescriptions. However, literature analysis has shown that allergy to antibiotics is generally overdiagnosed in children because in most cases the diagnosis is based only on the clinical history without a full allergy work-up. Consequently, children are often improperly deprived of narrow-spectrum antibiotics because of a suspected allergy to these drugs. β-Lactams, mainly penicillins, are more frequently involved as a cause of allergy to antibiotics, although allergic problems are reported for most of the antibiotic classes. Accurate diagnosis is essential for a precise definition of determination of allergy to a given drug. Diagnosis has to be based on history, laboratory tests and, when possible, on in vitro and drug provocation tests. Unfortunately, the allergological work-up is well structured only for β-lactam antibiotics, whereas for non-β-lactams few studies are available, with very limited experience in children. The main aim of this paper is to discuss the real relevance of allergy to antibiotics in children in order to provide physicians with the knowledge needed to establish an appropriate diagnostic allergy work-up and to make better use of antibiotic therapy. Copyright © 2016 Elsevier B.V. and International Society of Chemotherapy. All rights reserved.
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Evidence-based practice: management of glottic cancer.
Hartl, Dana M
2012-10-01
The main issue in the management of glottic squamous cell carcinoma, as for all cancers, is adequate disease control while optimizing functional outcomes and minimizing morbidity. This is true for early-stage disease as for advanced tumors. This article evaluates the current evidence for the diagnostic and pretherapeutic workup for glottic squamous cell carcinoma and the evidence concerning different treatment options for glottic carcinoma, from early-stage to advanced-stage disease. Copyright © 2012 Elsevier Inc. All rights reserved.
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Hypochondriasis: difficulties in diagnosis and management.
Webb, W L
1979-01-01
The hypochondriacal patient presents numerous frustrations for the physician. The typical hypochondriac is a middle-aged person dominated by a preoccupation with bodily symptoms. Bereavement, serious life failures, and severe blows to self-esteem put patients at high risk for somatization. Hypochondrisis has been cited as a symptom of masked depression, early paranoid schizophrenia, and dementia and/or delirium. A careful diagnostic work-up with attention to any correctable psychiatric illness sets the stage for regularly scheduled, long-term supportive therapy.
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Classical fragile-X phenotype in a female infant disclosed by comprehensive genomic studies.
Jorge, Paula; Garcia, Elsa; Gonçalves, Ana; Marques, Isabel; Maia, Nuno; Rodrigues, Bárbara; Santos, Helena; Fonseca, Jacinta; Soares, Gabriela; Correia, Cecília; Reis-Lima, Margarida; Cirigliano, Vincenzo; Santos, Rosário
2018-05-10
We describe a female infant with Fragile-X syndrome, with a fully expanded FMR1 allele and preferential inactivation of the homologous X-chromosome carrying a de novo deletion. This unusual and rare case demonstrates the importance of a detailed genomic approach, the absence of which could be misguiding, and calls for reflection on the current clinical and diagnostic workup for developmental disabilities. We present a female infant, referred for genetic testing due to psychomotor developmental delay without specific dysmorphic features or relevant family history. FMR1 mutation screening revealed a methylated full mutation and a normal but inactive FMR1 allele, which led to further investigation. Complete skewing of X-chromosome inactivation towards the paternally-inherited normal-sized FMR1 allele was found. No pathogenic variants were identified in the XIST promoter. Microarray analysis revealed a 439 kb deletion at Xq28, in a region known to be associated with extreme skewing of X-chromosome inactivation. Overall results enable us to conclude that the developmental delay is the cumulative result of a methylated FMR1 full mutation on the active X-chromosome and the inactivation of the other homologue carrying the de novo 439 kb deletion. Our findings should be taken into consideration in future guidelines for the diagnostic workup on the diagnosis of intellectual disabilities, particularly in female infant cases.
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Hammer, Niels; Hirschfeld, Ulrich; Strunz, Hendrik; Werner, Michael; Wolfskämpf, Thomas; Löffler, Sabine
2017-01-01
Introduction . The triangular fibrocartilage complex (TFCC) provides both mobility and stability of the radiocarpal joint. TFCC lesions are difficult to diagnose due to the complex anatomy. The standard treatment for TFCC lesions is arthroscopy, posing surgery-related risks onto the patients. This feasibility study aimed at developing a workup for soft-tissue reconstruction using clinical imaging, to verify these results in retrospective patient data. Methods . Microcomputed tomography ( μ -CT), 3 T magnetic resonance imaging (MRI), and plastination were used to visualize the TFCC in cadaveric specimens applying segmentation-based 3D reconstruction. This approach further trialed the MRI dataset of a patient with minor radiological TFCC alterations but persistent pain. Results . TFCC reconstruction was impossible using μ -CT only but feasible using MRI, resulting in an appreciation of its substructures, as seen in the plastinates. Applying this approach allowed for visualizing a Palmer 2C lesion in a patient, confirming ex postum the arthroscopy findings, being markedly different from MRI (Palmer 1B). Discussion . This preliminary study showed that image-based TFCC reconstruction may help to identify pathologies invisible in standard MRI. The combined approach of μ -CT, MRI, and plastination allowed for a three-dimensional appreciation of the TFCC. Image quality and time expenditure limit the approach's usefulness as a diagnostic tool.
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Hirschfeld, Ulrich; Strunz, Hendrik; Werner, Michael; Wolfskämpf, Thomas; Löffler, Sabine
2017-01-01
Introduction. The triangular fibrocartilage complex (TFCC) provides both mobility and stability of the radiocarpal joint. TFCC lesions are difficult to diagnose due to the complex anatomy. The standard treatment for TFCC lesions is arthroscopy, posing surgery-related risks onto the patients. This feasibility study aimed at developing a workup for soft-tissue reconstruction using clinical imaging, to verify these results in retrospective patient data. Methods. Microcomputed tomography (μ-CT), 3 T magnetic resonance imaging (MRI), and plastination were used to visualize the TFCC in cadaveric specimens applying segmentation-based 3D reconstruction. This approach further trialed the MRI dataset of a patient with minor radiological TFCC alterations but persistent pain. Results. TFCC reconstruction was impossible using μ-CT only but feasible using MRI, resulting in an appreciation of its substructures, as seen in the plastinates. Applying this approach allowed for visualizing a Palmer 2C lesion in a patient, confirming ex postum the arthroscopy findings, being markedly different from MRI (Palmer 1B). Discussion. This preliminary study showed that image-based TFCC reconstruction may help to identify pathologies invisible in standard MRI. The combined approach of μ-CT, MRI, and plastination allowed for a three-dimensional appreciation of the TFCC. Image quality and time expenditure limit the approach's usefulness as a diagnostic tool. PMID:28246600
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Classification of stillbirths is an ongoing dilemma.
Nappi, Luigi; Trezza, Federica; Bufo, Pantaleo; Riezzo, Irene; Turillazzi, Emanuela; Borghi, Chiara; Bonaccorsi, Gloria; Scutiero, Gennaro; Fineschi, Vittorio; Greco, Pantaleo
2016-10-01
To compare different classification systems in a cohort of stillbirths undergoing a comprehensive workup; to establish whether a particular classification system is most suitable and useful in determining cause of death, purporting the lowest percentage of unexplained death. Cases of stillbirth at gestational age 22-41 weeks occurring at the Department of Gynecology and Obstetrics of Foggia University during a 4 year period were collected. The World Health Organization (WHO) diagnosis of stillbirth was used. All the data collection was based on the recommendations of an Italian diagnostic workup for stillbirth. Two expert obstetricians reviewed all cases and classified causes according to five classification systems. Relevant Condition at Death (ReCoDe) and Causes Of Death and Associated Conditions (CODAC) classification systems performed best in retaining information. The ReCoDe system provided the lowest rate of unexplained stillbirth (14%) compared to de Galan-Roosen (16%), CODAC (16%), Tulip (18%), Wigglesworth (62%). Classification of stillbirth is influenced by the multiplicity of possible causes and factors related to fetal death. Fetal autopsy, placental histology and cytogenetic analysis are strongly recommended to have a complete diagnostic evaluation. Commonly employed classification systems performed differently in our experience, the most satisfactory being the ReCoDe. Given the rate of "unexplained" cases, none can be considered optimal and further efforts are necessary to work out a clinically useful system.
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Diagnosis and Management of Polycythemia Vera in a Ferret (Mustela putorius furo).
Le, Kim; Beaufrère, Hugues; Bassel, Laura L; Wills, Sarah; Laniesse, Delphine; Blois, Shauna L; Smith, Dale A
2016-12-01
A 5-y-old female ferret (Mustela putorius furo) was evaluated for diarrhea, anorexia, and lethargy for 1 wk. Only mild dehydration was detected on physical examination. CBC analysis revealed marked erythrocytosis with an unremarkable plasma biochemistry panel; follow-up CBC analyses revealed a consistent primary erythrocytosis. Whole-body radiographs and abdominal ultrasonography were unremarkable except for a small nephrolith in the right kidney and a small cyst in the left kidney. The plasma erythropoietin level was 17.0 mIU/mL and considered normal. In light of the diagnostic work-up and consistent erythrocytosis, a diagnosis of polycythemia vera (primary erythrocytosis) was made. The initial presentation of diarrhea resolved after treatment with oral metronidazole (20 mg/kg PO BID for 7 d). Treatment for the polycythemia consisted of a phlebotomy initially followed by chemotherapy with hydroxyurea (10 mg/kg PO BID). During the subsequent 12 mo, the hydroxyurea dose adjusted according to follow-up CBC results, and finding an optimal dosage regimen proved to be challenging. One year after the initial diagnosis, the ferret presented to an emergency clinic for acute and severe hemorrhagic diarrhea and died shortly thereafter. The postmortem diagnosis was acute venous infarction of the small and large intestine. To our knowledge, this report is the first to describe the diagnosis and long-term management of polycythemia vera in a ferret and the use of hydroxyurea for this purpose.
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Peritz, David C; Vaughn, Aaron; Ciocca, Mario; Chung, Eugene H
2014-08-01
Left ventricular noncompaction (LVNC) is a rare cause of progressive cardiomyopathy thought to result from incomplete myocardial development. It has been associated with an increased risk of sudden death, especially in those with a depressed left ventricular ejection fraction. Thus, the current recommendation for patients with this diagnosis is restriction from participation in competitive sports. An asymptomatic 18-year-old African American collegiate football player had a murmur on his preparticipation physical examination. Subsequent cardiology workup revealed hypertrabeculation vs LVNC. Second and third opinions were sought from national experts in the field: one gave the diagnosis of LVNC and recommended restriction; the other gave the diagnosis of hypertrabeculation. After a family meeting including the player, mother, team physician, and consulting cardiologist, the player was permitted to participate in football. Distinguishing between pathologic LVNC and physiologic hypertrabeculation is a diagnostic challenge and is becoming increasingly commonplace with enhanced echocardiography and magnetic resonance imaging modalities. Given the limited data on such patients, careful workup and discussion between patient and providers is required.
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Seizures presenting as incessant laughter: a case of gelastic epilepsy.
Holmes, Christina M; Goldman, Mitchell J
2012-12-01
Gelastic seizures are defined as seizure activity manifesting as laughter inappropriate to the situation, with supporting evidence on electroencephalogram or magnetic resonance imaging. Gelastic seizures are most commonly reported in patients with hypothalamic hamartomas causing precocious puberty. The differential diagnosis of incessant laughter is important to recognize in the Emergency Department, as some conditions warrant immediate treatment and others require further diagnostic work-up with implications for the entire family. The background and pathophysiology of gelastic epilepsy will be discussed. The case of a previously healthy girl with acute onset of incessant laughter is reported. This patient was diagnosed with a clinical case of gelastic seizures. This case illustrates the importance of recognizing this form of seizures for accurate treatment and follow-up. This case report illustrates the importance of a broad differential for a patient presenting emergently with uncontrollable laughter. Gelastic epilepsy is relatively rare but requires further work-up and often may require chronic therapy. Copyright © 2012 Elsevier Inc. All rights reserved.
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Bensaïdane, Mohamed Reda; Beauregard, Jean-Mathieu; Poulin, Stéphane; Buteau, François-Alexandre; Guimond, Jean; Bergeron, David; Verret, Louis; Fortin, Marie-Pierre; Houde, Michèle; Bouchard, Rémi W; Soucy, Jean-Paul; Laforce, Robert
2016-04-18
Recent studies have supported a role for amyloid positron emission tomography (PET) imaging in distinguishing Alzheimer's disease (AD) pathology from other pathological protein accumulations leading to dementia. We investigated the clinical utility of amyloid PET in the differential diagnosis of atypical dementia cases and its impact on caregivers. Using the amyloid tracer 18F-NAV4694, we prospectively scanned 28 patients (mean age 59.3 y, s.d. 5.8; mean MMSE 21.4, s.d. 6.0) with an atypical dementia syndrome. Following a comprehensive diagnostic workup (i.e., history taking, neurological examination, blood tests, neuropsychological evaluation, MRI, and FDG-PET), no certain diagnosis could be arrived at. Amyloid PET was then conducted and classified as positive or negative. Attending physicians were asked to evaluate whether this result led to a change in diagnosis or altered management. They also reported their degree of confidence in the diagnosis. Caregivers were met after disclosure of amyloid PET results and completed a questionnaire/interview to assess the impact of the scan. Our cohort was evenly divided between positive (14/28) and negative (14/28) 18F-NAV4694 cases. Amyloid PET resulted in a diagnostic change in 9/28 cases (32.1%: 17.8% changed from AD to non-AD, 14.3% from non-AD to AD). There was a 44% increase in diagnostic confidence. Altered management occurred in 71.4% (20/28) of cases. Knowledge of amyloid status improved caregivers' outcomes in all domains (anxiety, depression, disease perception, future anticipation, and quality of life). This study suggests a useful additive role for amyloid PET in atypical cases with an unclear diagnosis beyond the extensive workup of a tertiary memory clinic. Amyloid PET increased diagnostic confidence and led to clinically significant alterations in management. The information gained from that test was well received by caregivers and encouraged spending quality time with their loved ones.
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Comparing diagnostic tests on benefit-risk.
Pennello, Gene; Pantoja-Galicia, Norberto; Evans, Scott
2016-01-01
Comparing diagnostic tests on accuracy alone can be inconclusive. For example, a test may have better sensitivity than another test yet worse specificity. Comparing tests on benefit risk may be more conclusive because clinical consequences of diagnostic error are considered. For benefit-risk evaluation, we propose diagnostic yield, the expected distribution of subjects with true positive, false positive, true negative, and false negative test results in a hypothetical population. We construct a table of diagnostic yield that includes the number of false positive subjects experiencing adverse consequences from unnecessary work-up. We then develop a decision theory for evaluating tests. The theory provides additional interpretation to quantities in the diagnostic yield table. It also indicates that the expected utility of a test relative to a perfect test is a weighted accuracy measure, the average of sensitivity and specificity weighted for prevalence and relative importance of false positive and false negative testing errors, also interpretable as the cost-benefit ratio of treating non-diseased and diseased subjects. We propose plots of diagnostic yield, weighted accuracy, and relative net benefit of tests as functions of prevalence or cost-benefit ratio. Concepts are illustrated with hypothetical screening tests for colorectal cancer with test positive subjects being referred to colonoscopy.
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Outcome in obscure gastrointestinal bleeding after capsule endoscopy.
Cañas-Ventura, Alex; Márquez, Lucia; Bessa, Xavier; Dedeu, Josep Maria; Puigvehí, Marc; Delgado-Aros, Sílvia; Ibáñez, Ines Ana; Seoane, Agustin; Barranco, Luis; Bory, Felipe; Andreu, Montserrat; González-Suárez, Begoña
2013-11-16
To investigate the clinical impact of capsule endoscopy (CE) after an obscure gastrointestinal bleeding (OGIB) episode, focusing on diagnostic work-up, follow-up and predictive factors of rebleeding. Patients who were referred to Hospital del Mar (Barcelona, Spain) between 2007 and 2009 for OGIB who underwent a CE were retrospectively analyzed. Demographic data, current treatment with non-steroid anti-inflammtory drugs or anticoagulant drugs, hemoglobin levels, transfusion requirements, previous diagnostic tests for the bleeding episode, as well as CE findings (significant or non-significant), work-up and patient outcomes were analyzed from electronic charts. Variables were compared by χ (2) analysis and Student t test. Risk factors of rebleeding were assessed by Log-rank test, Kaplan-Meier curves and Cox regression model. There were 105 patients [45.7% women, median age of 72 years old (interquartile range 56-79)] and a median follow-up of 326 d (interquartile range 123-641) included in this study. The overall diagnostic yield of CE was 58.1% (55.2% and 63.2%, for patients with occult OGIB and overt OGIB, respectively). In 73 patients (69.5%), OGIB was resolved. Multivariate analysis showed that hemoglobin levels lower than 8 g/dL at diagnosis [hazard ratios (HR) = 2.7, 95%CI: 1.9-6.3], patients aged 70 years and above (HR = 2.1, 95%CI: 1.2-6.1) and significant findings in CE (HR = 2.4, 95%CI: 1.1-5.8) were independent predictors of rebleeding. One third of the patients presented with rebleeding after CE; risk factors were hemoglobin levels < 8 g/dL, age ≥ 70 years or the presence of significant lesions.
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Infections in the differential diagnosis of Bell's palsy: a plea for performing CSF analysis.
Henkel, Katrin; Lange, Peter; Eiffert, Helmut; Nau, Roland; Spreer, Annette
2017-04-01
Peripheral facial nerve palsy (FP) is the most common single nerve affection. Most cases are idiopathic, but a relevant fraction is caused by potentially treatable aetiologies including infections. Not all current diagnosis and treatment guidelines recommend routine cerebrospinal fluid (CSF) analysis in the diagnostic workup of this symptom. In this study, we evaluated frequency of aetiologies and relevance of CSF analysis in an interdisciplinary cohort. We retrospectively analysed all cases of newly diagnosed FP treated at a German university medical centre in a 3-year period. Diagnostic certainty was classified for infectious aetiologies according to clinical and CSF parameters. 380 patients with FP were identified, 63 children and 317 adults. Idiopathic Bell´s palsy was predominant in 61 %. 25 % of FP was attributed to infections, and other causes were identified in 14 %. Clinical presentation alone was not conclusive for infectious aetiology, in almost half of patients with infection-attributed FP the reported symptoms or clinical signs did not differ from common symptoms of idiopathic Bell`s palsy. Determination of C-reactive protein or white blood cell count was not helpful in the identification of infectious causes, and radiological imaging was performed in a high proportion of adult patients without conclusive results. Nuchal rigidity was found only in 7 % of patients with CSF pleocytosis. The predominant infectious agents were Borrelia burgdorferi, VZV and HSV, and in most of these cases diagnosis relied on the findings of CSF analysis. This study outlines the importance of careful differential diagnosis to identify infectious causes of facial nerve palsy. The high incidence and frequent unspecific clinical presentation of infectious FP underlines the importance of including CSF analysis in the diagnostic routine workup of FP.
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In Vitro Gluten Challenge Test for Celiac Disease Diagnosis.
Khalesi, Maryam; Jafari, Seyed Ali; Kiani, Mohammadali; Picarelli, Antonio; Borghini, Raffaele; Sadeghi, Ramin; Eghtedar, Alireza; Ayatollahi, Hosein; Kianifar, Hamid R
2016-02-01
The in vitro gluten challenge test is an important diagnostic modality in celiac disease (CD), especially in patients who begin treatment with a gluten-free diet before adequate diagnostic workup or in cases with atypical CD. Available literature was reviewed regarding the accuracy of the in vitro gluten challenge test for CD diagnosis. MEDLINE, Scopus, and Google Scholar were searched, and studies that used serology and bowel biopsy as the criterion standard for diagnosis were included in our study. Data on authors, publication year, characteristics of the patient and control groups, patients' diet, duration of the gluten challenge test, histology findings, endomysial antibody (EMA) and anti-tissue transglutaminase (tTG) levels, CD markers, and intercellular cell adhesion molecule-1, and human leukocyte antigens before and after the gluten challenge test were extracted. Overall, 15 studies were included in this meta-analysis. Pooled sensitivity %/specificity % was 84/99 for EMA after the challenge, 52/96 for EMA without the challenge, 95.5/98.3 for anti-tTG after the challenge, and 95.1/98.3 for anti-tTG without the challenge test. Sensitivity/specificity for immunological markers were 89/97 for the percentage of CD25⁺-lamina propria lymphocytes, 96/91 for the percentage of CD3⁺-lamina propria lymphocytes, and 96.1/85.7 for the percentage of intercellular cell adhesion molecule-1-lamina propria lymphocytes. The factors that increased the sensitivity of EMA were longer test duration, and the evaluation of patients on a gluten-containing diet or short-term gluten-free diet. The in vitro gluten challenge test can be a useful part of the diagnostic workup of CD, rather than only a model to evaluate its mechanisms.
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[S3 guidelines on diagnostics and treatment of cervical cancer: Demands on pathology].
Horn, L-C; Beckmann, M W; Follmann, M; Koch, M C; Mallmann, P; Marnitz, S; Schmidt, D
2015-11-01
Between 2011 and the end of 2014 the former consensus S2k guidelines for the diagnostics and treatment of cervical cancer were updated and upgraded to S3 level, methodologically based on the regulations of the German Cancer Society (DKG). The present article summarizes the relevant aspects for the sectioning, histopathological workup, diagnostics and reporting for the pathology of invasive cancer of the uterine cervix. The recommendations are based on the most recent World Health Organization (WHO) and TNM classification systems and consider the needs of the clinician for appropriate surgical and radiotherapeutic treatment of patients. Detailed processing rules of colposcopy-guided diagnostic biopsies, conization and trachelectomy as well as for radical hysterectomy specimens and lymph node resection (including sentinel lymph node resection) are given. In the guidelines deep stromal invasion in macroinvasive cervical cancer is defined for the first time as tumor infiltration of > 66% of the cervical stromal wall. Furthermore, morphological prognostic factors for microinvasive and macroinvasive cervical cancer are summarized.
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Sierink, Joanne C; Treskes, Kaij; Edwards, Michael J R; Beuker, Benn J A; den Hartog, Dennis; Hohmann, Joachim; Dijkgraaf, Marcel G W; Luitse, Jan S K; Beenen, Ludo F M; Hollmann, Markus W; Goslings, J Carel
2016-08-13
Published work suggests a survival benefit for patients with trauma who undergo total-body CT scanning during the initial trauma assessment; however, level 1 evidence is absent. We aimed to assess the effect of total-body CT scanning compared with the standard work-up on in-hospital mortality in patients with trauma. We undertook an international, multicentre, randomised controlled trial at four hospitals in the Netherlands and one in Switzerland. Patients aged 18 years or older with trauma with compromised vital parameters, clinical suspicion of life-threatening injuries, or severe injury were randomly assigned (1:1) by ALEA randomisation to immediate total-body CT scanning or to a standard work-up with conventional imaging supplemented with selective CT scanning. Neither doctors nor patients were masked to treatment allocation. The primary endpoint was in-hospital mortality, analysed in the intention-to-treat population and in subgroups of patients with polytrauma and those with traumatic brain injury. The χ(2) test was used to assess differences in mortality. This trial is registered with ClinicalTrials.gov, number NCT01523626. Between April 22, 2011, and Jan 1, 2014, 5475 patients were assessed for eligibility, 1403 of whom were randomly assigned: 702 to immediate total-body CT scanning and 701 to the standard work-up. 541 patients in the immediate total-body CT scanning group and 542 in the standard work-up group were included in the primary analysis. In-hospital mortality did not differ between groups (total-body CT 86 [16%] of 541 vs standard work-up 85 [16%] of 542; p=0.92). In-hospital mortality also did not differ between groups in subgroup analyses in patients with polytrauma (total-body CT 81 [22%] of 362 vs standard work-up 82 [25%] of 331; p=0.46) and traumatic brain injury (68 [38%] of 178 vs 66 [44%] of 151; p=0.31). Three serious adverse events were reported in patients in the total-body CT group (1%), one in the standard work-up group (<1%), and one in a patient who was excluded after random allocation. All five patients died. Diagnosing patients with an immediate total-body CT scan does not reduce in-hospital mortality compared with the standard radiological work-up. Because of the increased radiation dose, future research should focus on the selection of patients who will benefit from immediate total-body CT. ZonMw, the Netherlands Organisation for Health Research and Development. Copyright © 2016 Elsevier Ltd. All rights reserved.
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West, Howard
2017-09-01
The current standard of care for molecular marker testing in patients with advanced non-small cell lung cancer (NSCLC) has been evolving over several years and is a product of the quality of the evidence supporting a targeted therapy for a specific molecular marker, the pre-test probability of that marker in the population, and the magnitude of benefit seen with that treatment. Among the markers that have one or more matched targeted therapies, only a few are in the subset for which they should be considered as most clearly worthy of prioritizing to detect in the first line setting in order to have them supplant other first line alternatives, and in only a subset of patients, as defined currently by NSCLC histology. Specifically, this currently includes testing for an activating epidermal growth factor receptor ( EGFR ) mutation or an anaplastic lymphoma kinase ( ALK ) or ROS1 rearrangement. This article reviews the history and data supporting the prioritization of these markers in patients with non-squamous NSCLC, a histologically selected population in whom the probability of these markers combined with the anticipated efficacy of targeted therapies against them is high enough to favor these treatments in the first line setting. In reviewing the evidence supporting this very limited core subset of most valuable molecular markers to detect in the initial workup of such patients, we can also see the criteria by which other actionable markers need to reach in order to be widely recognized as reliably valuable enough to warrant prioritization to detect in the initial workup of advanced NSCLC as well.
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Cushing Syndrome: Diagnostic Workup and Imaging Features, With Clinical and Pathologic Correlation.
Wagner-Bartak, Nicolaus A; Baiomy, Ali; Habra, Mouhammed Amir; Mukhi, Shalini V; Morani, Ajaykumar C; Korivi, Brinda R; Waguespack, Steven G; Elsayes, Khaled M
2017-07-01
Cushing syndrome (CS) is a constellation of clinical signs and symptoms resulting from chronic exposure to excess cortisol, either exogenous or endogenous. Exogenous CS is most commonly caused by administration of glucocorticoids. Endogenous CS is subdivided into two types: adrenocorticotropic hormone (ACTH) dependent and ACTH independent. Cushing disease, which is caused by a pituitary adenoma, is the most common cause of ACTH-dependent CS for which pituitary MRI can be diagnostic, with bilateral inferior petrosal sinus sampling useful in equivocal cases. In ectopic ACTH production, which is usually caused by a tumor in the thorax (e.g., small cell lung carcinoma, bronchial and thymic carcinoids, or medullary thyroid carcinoma) or abdomen (e.g., gastroenteropancreatic neuroendocrine tumors or pheochromocytoma), CT, MRI, and nuclear medicine tests are used for localizing the source of ACTH. In ACTH-independent CS, which is caused by various adrenal abnormalities, adrenal protocol CT or MRI is usually diagnostic.
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Cisneros-Herreros, José Miguel; Cobo-Reinoso, Javier; Pujol-Rojo, Miquel; Rodríguez-Baño, Jesús; Salavert-Lletí, Miguel
2007-02-01
Bacteremia is a complex clinical syndrome in constant transformation that is an important, growing cause of morbidity and mortality. Even though there is a great deal of specific information about bacteremia, few comprehensive reviews integrate this information with a practical AIM. The main objective of these Guidelines, which target hospital physicians, is to improve the clinical care provided to patients with bacteremia by integrating blood culture results with clinical data, and optimizing the use of diagnostic procedures and antimicrobial testing. The document is structured into sections that cover the epidemiology and etiology of bacteremia, stratified according to the various patient populations, and the diagnostic work-up, therapy, and follow-up of patients with bacteremia. Diagnostic and therapeutic decisions are presented as recommendations based on the grade of available scientific evidence.
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Diagnosing pulmonary embolisms: the clinician's point of view.
Carrillo Alcaraz, A; Martínez, A López; Solano, F J Sotos
Pulmonary thromboembolism is common and potentially severe. To ensure the correct approach to the diagnostic workup of pulmonary thromboembolism, it is essential to know the basic concepts governing the use of the different tests available. The diagnostic approach to pulmonary thromboembolism is an example of the application of the conditional probabilities of Bayes' theorem in daily practice. To interpret the available diagnostic tests correctly, it is necessary to analyze different concepts that are fundamental for decision making. Thus, it is necessary to know what the likelihood ratios, 95% confidence intervals, and decision thresholds mean. Whether to determine the D-dimer concentration or to do CT angiography or other imaging tests depends on their capacity to modify the pretest probability of having the disease to a posttest probability that is higher or lower than the thresholds for action. This review aims to clarify the diagnostic sequence of thromboembolic pulmonary disease, analyzing the main diagnostic tools (clinical examination, laboratory tests, and imaging tests), placing special emphasis on the principles that govern evidence-based medicine. Copyright © 2016 SERAM. Publicado por Elsevier España, S.L.U. All rights reserved.
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Chandran, Arun; Biswas, Shubhabrata; Hartley, James Leon; Nahser, Hans Christean; Lancaster, Jeffrey; Puthuran, Mani
2016-10-01
A bleeding vertebral artery pseudoaneurysm is a rare cause of haemoptysis. Pseudoaneurysm can arise due to radionecrosis from previous radiotherapy in the base of skull and neck region and may present with haemoptysis many years later. It is important to be aware of this entity in the work-up of haemoptysis, particularly in patients with previous base of skull and neck radiotherapy. Our patient was successfully treated with endovascular occlusion. © The Author(s) 2016.
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Surgery for cleft palate and velopharyngeal dysfunction.
Pearson, Gregory D; Kirschner, Richard E
2011-05-01
Cleft palate is a common congenital anomaly that, if left untreated, results in subsequent velopharyngeal dysfunction. After surgical repair of the palatal cleft, patients must be monitored clinically for any postoperative velopharyngeal dysfunction. If this sequela develops, patients must be evaluated in a multidisciplinary manner with diagnostic procedures performed and individualized care plans made prior to embarking upon surgery for velopharyngeal dysfunction. This article discusses surgical management of patients with cleft palate as well as the proper workup and management of postoperative velopharyngeal dysfunction. © Thieme Medical Publishers.
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Brodsky, Michael C; Biousse, Valérie
A 15-year-old girl presented with a unilateral sixth nerve palsy and papilledema after a severe headache. Magnetic resonance imaging showed thrombosis of the superior sagittal sinus and proximal right transverse sinus that were attributed to oral contraceptive use after a coagulation workup was negative. Systemic anticoagulation caused a hemorrhagic papillopathy in both eyes, raising the question as to whether anticoagulation should be discontinued. Diagnostic and management issues regarding cerebral venous sinus thrombosis with secondary intracranial hypertension are discussed. Copyright © 2017 Elsevier Inc. All rights reserved.
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Fever of Unknown Origin in Childhood.
Chusid, Michael J
2017-02-01
Childhood fever of unknown origin (FUO) is most often related to an underlying infection but can also be associated with a variety of neoplastic, rheumatologic, and inflammatory conditions. Repeated, focused reviews of patient history and physical examination are often helpful in suggesting a likely diagnosis. Diagnostic workup should be staged, usually leaving invasive testing for last. Advances in molecular genetic techniques have increased the importance of these assays in the diagnosis of FUO in children. Copyright © 2016 Elsevier Inc. All rights reserved.
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McNair, Patrick; Jones, Erica; Truong, Quynh; Singh, Harsimran
Single coronary artery is a rare clinical finding. Diagnosis is typically made incidentally after the patient presents with symptoms and undergoes coronary angiography, coronary computed tomography angiography (CTA), or post-mortem during autopsy. Several high-risk features of anomalous coronary arteries have been described in the literature. Our paper describes a case of dilated alcoholic cardiomyopathy presenting as heart failure with diagnostic workup incidentally revealing single coronary artery. Copyright © 2017 Elsevier Inc. All rights reserved.
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Robotically assisted ureteroscopy for kidney exploration.
Talari, Hadi F; Monfaredi, Reza; Wilson, Emmanuel; Blum, Emily; Bayne, Christopher; Peters, Craig; Zhang, Anlin; Cleary, Kevin
2017-02-01
Ureteroscopy is a minimally invasive procedure for diagnosis and treatment of a wide range of urinary tract pathologies. It is most commonly performed in the diagnostic work-up of hematuria and the diagnosis and treatment of upper urinary tract malignancies and calculi. Ergonomic and visualization challenges as well as radiation exposure are limitations to conventional ureteroscopy. For example, for diagnostic tumor inspection, the urologist has to maneuver the ureteroscope through each of the 6 to 12 calyces in the kidney under fluoroscopy to ensure complete surveillance. Therefore, we have been developing a robotic system to "power drive" a flexible fiber-optic ureteroscope with 3D tip tracking and pre-operative image overlay. Our goal is to provide the urologist precise control of the ureteroscope tip with less radiation exposure. Our prototype system allows control of the three degrees of freedom of the ureteroscope via brushless motors and a joystick interface. The robot provides a steady platform for controlling the ureteroscope. Furthermore, the robot design facilitates a quick "snap-in" of the ureteroscope, thus allowing the ureteroscope to be mounted midway through the procedure. We have completed the mechanical system and the controlling software and begun evaluation using a kidney phantom. We put MRI-compatible fiducials on the phantom and obtained MR images. We registered these images with the robot using an electromagnetic tracking system and paired-point registration. The system is described and initial evaluation results are given in this paper.
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Ramman, Tarun Raina; Dutta, Nilanjan; Chowdhuri, Kuntal Roy; Agrawal, Sunny; Girotra, Sumir; Azad, Sushil; Radhakrishnan, Sitaraman; Iyer, Parvathi Unninayar; Iyer, Krishna Subramony
2018-01-01
Persistent left superior vena cava is a common congenital anomaly of the thoracic venous system. Left superior vena cava draining into left atrium is a malformation of sinus venosus and caval system. The anomaly may be a cause of unexplained hypoxia even in adults. It may give rise to various diagnostic and technical challenges during cardiac catheterization and open-heart surgery. It is often detected serendipitously during diagnostic workup. Isolated left superior vena cava opening into left atrium is very commonly associated with other congenital heart defects. But tetralogy of Fallot is very rarely associated with persistent left superior vena cava which drains into left atrium. We report four such cases who underwent surgical correction successfully.
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Protonotarios, Alexandros; Patrianakos, Alexandros; Spanoudaki, Elpida; Kochiadakis, Georgios; Michalodimitrakis, Emmanouel; Vardas, Panagiotis
2013-01-01
Left-dominant arrhythmogenic cardiomyopathy is a subtype of arrhythmogenic right ventricular cardiomyopathy characterized by early predominant left ventricular involvement. Α 34-year-old man presented with palpitations and a history of frequent ventricular extrasystoles of both LBBB and RBBB configuration. Cardiac workup revealed repolarization abnormalities at infero-lateral leads in the absence of diagnostic structural/functional alterations or obstructive coronary artery disease. Six months later he died suddenly. Histopathology was diagnostic for arrhythmogenic right ventricular cardiomyopathy affecting predominantly the left ventricle at subepicardial/midwall myocardial layers. Thus, ventricular arrhythmias accompanied by unexplained infero-lateral T-wave inversion should warn of a possible morbid association underlying left-dominant arrhythmogenic cardiomyopathy. Copyright © 2013 Elsevier Inc. All rights reserved.
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[Primary infection with cytomegalovirus: An infectious cause of splenic infarction].
Kassem, H; Khamadi, K; Farrugia, C; Ho Hio Hen, N; El Gharbi, T; Turner, L
2017-08-01
Cytomegalovirus-associated thrombosis has been extensively reported in the medical literature, mainly in immune-compromised patients. However, the association with splenic infarcts has rarely been reported. We report a 32-year-old Caucasian and immunocompetent woman who presented with a splenic infarction during a primary infection with CMV. The differential diagnostic ruled out embolic, hematologic, gastrointestinal and coagulation disorders. The outcome was favorable with symptomatic treatment. A primary infection with CMV must be added to the diagnostic work-up in the presence of a febrile splenic infarction, especially when it is associated with a biological mononucleosis reaction. Copyright © 2016 Société Nationale Française de Médecine Interne (SNFMI). Published by Elsevier SAS. All rights reserved.
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The clinical significance of occult gynecologic primary tumours in metastatic cancer.
Hannouf, M B; Winquist, E; Mahmud, S M; Brackstone, M; Sarma, S; Rodrigues, G; Rogan, P K; Hoch, J S; Zaric, G S
2017-10-01
We estimated the frequency of occult gynecologic primary tumours (gpts) in patients with metastatic cancer from an uncertain primary and evaluated the effect on disease management and overall survival (os). We used Manitoba administrative health databases to identify all patients initially diagnosed with metastatic cancer during 2002-2011. We defined patients as having an "occult" primary tumour if the primary was classified at least 6 months after the initial diagnosis. Otherwise, we considered patients to have "obvious" primaries. We then compared clinicopathologic and treatment characteristics and 2-year os for women with occult and with obvious gpts. We used Cox regression adjustment and propensity score methods to assess the effect on os of having an occult gpt. Among the 5953 patients diagnosed with metastatic cancer, occult primary tumours were more common in women ( n = 285 of 2552, 11.2%) than in men ( n = 244 of 3401, 7.2%). In women, gpts were the most frequent occult primary tumours ( n = 55 of 285, 19.3%). Compared with their counterparts having obvious gpts, women with occult gpts ( n = 55) presented with similar histologic and metastatic patterns but received fewer gynecologic diagnostic examinations during diagnostic work-up. Women with occult gpts were less likely to undergo surgery, waited longer for radiotherapy, and received a lesser variety of chemotherapeutic agents. Having an occult compared with an obvious gpt was associated with decreased os (hazard ratio: 1.62; 95% confidence interval: 1.2 to 2.35). Similar results were observed in adjusted analyses. In women with metastatic cancer from an uncertain primary, gpts constitute the largest clinical entity. Accurate diagnosis of occult gpts early in the course of metastatic cancer might lead to more effective treatment decisions and improved survival outcomes.
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The clinical significance of occult gynecologic primary tumours in metastatic cancer
Hannouf, M.B.; Winquist, E.; Mahmud, S.M.; Brackstone, M.; Sarma, S.; Rodrigues, G.; Rogan, P.K.; Hoch, J.S.; Zaric, G.S.
2017-01-01
Objective We estimated the frequency of occult gynecologic primary tumours (gpts) in patients with metastatic cancer from an uncertain primary and evaluated the effect on disease management and overall survival (os). Methods We used Manitoba administrative health databases to identify all patients initially diagnosed with metastatic cancer during 2002–2011. We defined patients as having an “occult” primary tumour if the primary was classified at least 6 months after the initial diagnosis. Otherwise, we considered patients to have “obvious” primaries. We then compared clinicopathologic and treatment characteristics and 2-year os for women with occult and with obvious gpts. We used Cox regression adjustment and propensity score methods to assess the effect on os of having an occult gpt. Results Among the 5953 patients diagnosed with metastatic cancer, occult primary tumours were more common in women (n = 285 of 2552, 11.2%) than in men (n = 244 of 3401, 7.2%). In women, gpts were the most frequent occult primary tumours (n = 55 of 285, 19.3%). Compared with their counterparts having obvious gpts, women with occult gpts (n = 55) presented with similar histologic and metastatic patterns but received fewer gynecologic diagnostic examinations during diagnostic work-up. Women with occult gpts were less likely to undergo surgery, waited longer for radiotherapy, and received a lesser variety of chemotherapeutic agents. Having an occult compared with an obvious gpt was associated with decreased os (hazard ratio: 1.62; 95% confidence interval: 1.2 to 2.35). Similar results were observed in adjusted analyses. Conclusions In women with metastatic cancer from an uncertain primary, gpts constitute the largest clinical entity. Accurate diagnosis of occult gpts early in the course of metastatic cancer might lead to more effective treatment decisions and improved survival outcomes. PMID:29089807
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A diagnostic protocol designed for determining allergic causes in patients with blood eosinophilia.
Magnaval, Jean-François; Laurent, Guy; Gaudré, Noémie; Fillaux, Judith; Berry, Antoine
2017-01-01
Blood eosinophilia is a common laboratory abnormality, and its characterization frequently represents a quandary for primary care physicians. Consequently, in France, specialists and particularly hematologists, often must investigate patients who present with blood eosinophilia that often, but not always, occurs because of allergic causes. Both the Departments of Hematology and Parasitology at Toulouse University Hospitals established a collaboration to rule out allergic causes of eosinophilia, particularly helminthiases, prior to initiating more sophisticated investigations. Since 2004, the authors employed the same protocol to investigate eosinophilic outpatients who attended the clinic of Parasitology at Toulouse University Hospitals, and they reported the performance of this diagnostic procedure that was designed to be rapid (no hospitalization required) and only moderately expensive. A total of 406 patients who presented with blood eosinophilia greater than 0.5 (×10 9 , giga cells per litter, G/L) had an allergic etiology in 350 (86.2%) cases. Among the remaining 56 subjects, 17 did not undergo a follow-up and 39 were referred to another specialized department, mostly Hematology. However, only 21 patients attended then were subsequently investigated. Non-allergic causes of eosinophilia, including 3 cases of the lymphoid variant of hypereosinophilic syndrome and 2 cases of myeloproliferative disorder, were identified in 14 patients, whereas 7 remained diagnosed as having idiopathic eosinophilia. This study underlines the need to investigate patients presenting with even moderate blood eosinophilia. The work-up that was employed appears to be efficient and versatile and may be used by any medical specialist, such as in hematology, infectious disease, or internal medicine departments, who needs to investigate eosinophilic patients and should initially rule out any etiology of allergic eosinophilia.
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Abdominal cryptococcosis in two dogs: diagnosis and medical management.
Tangeman, Lindsay; Davignon, Danielle; Patel, Reema; Littman, Meryl
2015-01-01
Canine cryptococcosis cases are typically reported as neurologic, disseminated, or both. There have been few reports of other parenchymal organ involvement. Dogs infected with Cryptococcus spp. are likely to develop central nervous system involvement, and those that are severely affected are treated aggressively with surgery and/or amphotericin B. This report describes two cases of canine abdominal cryptococcosis: one boxer with primary alimentary cryptococcosis alone and one miniature schnauzer with pancreatic and disseminated cryptococcosis. The boxer is unique in that the dog suffered from primary alimentary cryptococcosis without dissemination, secondary anemia due to gastrointestinal losses, and is the second case to have Cryptococcus spp. identified on fecal examination as part of the diagnostic workup. Unlike previous reports, surgery was not performed in either case, and both dogs were treated with fluconazole alone. Currently, both dogs are free from clinical signs, and Cryptococcus spp. antigen titers are negative at 17 and 15 mo after initial presentation. These cases suggest fluconazole may be effective therapy alone for canine abdominal cryptococcosis, negating the need for high-risk therapy options such as surgery and/or amphotericin B in some cases.
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[Further technical and digital development in minimally invasive and conventional surgery].
Feussner, H; Reiser, S B; Bauer, M; Kranzfelder, M; Schirren, R; Kleeff, J; Wilhelm, D
2014-03-01
Technological innovations have initiated a fundamental change in invasive therapeutic approaches which has led to a welcome reduction of surgical trauma but was also associated with a declining role of conventional surgery. Active utilization of future technological developments is decisive to promote new therapeutic strategies and to avoid a further loss of importance of surgery. This includes individualized preoperative therapy planning as well as intraoperative diagnostic work-up and navigation and the use of new functional intelligent implants. The working environment "surgical operating room" has to be refurbished into an integrated cooperating functional system. The impact of new technological developments is particularly obvious in minimally invasive surgery. There is a clear tendency towards further reduction in trauma in the surgical access. The incision will become smaller and the number of ports will be further reduced, with the aim of ultimately having just one port (monoport surgery) or even via natural access routes (scarless surgery). Among others, improved visualization including, e.g. autostereoscopy, digital image processing and intelligent support systems, which are able to assist in a cooperative way, will enable these goals to be achieved.
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Childhood allergic bronchopulmonary aspergillosis presenting as a middle lobe syndrome.
Shah, Ashok; Gera, Kamal; Panjabi, Chandramani
2016-01-01
Allergic bronchopulmonary aspergillosis (ABPA) is infrequently documented in children with asthma. Although collapse is not uncommon, middle lobe syndrome (MLS) as a presentation of ABPA is rather a rarity. A 9-year-old female child with asthma presented with increase in intensity of symptoms along with a right midzone patchy consolidation on a chest radiograph. In addition, an ill-defined opacity abutting the right cardiac border with loss of cardiac silhouette was noted. A right lateral view confirmed a MLS, which was further corroborated by high resolution computed tomography. Central bronchiectasis was also observed, which prompted a work-up for ABPA. The child met 7/8 major diagnostic criteria for ABPA. She was then initiated on oral prednisolone that resulted in a marked clinical improvement within a fortnight. Radiological clearance occurred at 3 months with inflation of the middle lobe. ABPA presenting with MLS in a child is yet to be reported. A high index of suspicion is required to establish the diagnosis of ABPA in a child presenting with MLS. This would obviate the invasive investigations usually done to ascertain the cause of MLS.
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Balloon dilation and intralesional steroid for benign rectal stricture management in a cat.
Chavkin, Jessica A; Spector, Donna J; Stanley, Skye W
2010-08-01
A 4-year-old castrated male domestic shorthair presented for 1 week of constipation and tenesmus. A rectal stricture had been diagnosed 8 months prior at the time of adoption and the cat had been successfully managed with stool softeners until presentation. A complete diagnostic work-up failed to reveal an underlying etiology for the stricture and colonoscopy was performed. Endoscopic biopsies of the stricture revealed benign non-specific inflammatory changes. Balloon dilation of the rectal stricture was performed during the initial colonoscopy and 3 and 9 days later. Triamcinolone acetonide was injected into the stricture site with endoscopic guidance during the third dilation procedure. The patient has been monitored for over 27 months; follow-up indicates no signs of tenesmus and repeated rectal examinations reveal no stricture recurrence. This case report demonstrates that endoscopic balloon dilation with intralesional steroid injection represented a minimally invasive and effective option for the treatment of a benign rectal stricture in this cat, and deserves further prospective investigation. Copyright 2010 ISFM and AAFP. Published by Elsevier Ltd. All rights reserved.
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Brusamolino, Ercole; Bacigalupo, Andrea; Barosi, Giovanni; Biti, Giampaolo; Gobbi, Paolo G; Levis, Alessandro; Marchetti, Monia; Santoro, Armando; Zinzani, Pier Luigi; Tura, Sante
2009-04-01
The Italian Society of Hematology (SIE), the Italian Society of Experimental Haematology (SIES) and the Italian Group for Bone Marrow Transplantation (GITMO) commissioned a project to develop practice guidelines for the initial work-up, therapy and follow-up of classical Hodgkin's lymphoma. Key questions to the clinical evaluation and treatment of this disease were formulated by an Advisory Committee, discussed and approved by an Expert Panel (EP) composed of senior hematologists and one radiotherapist. After a comprehensive and systematic literature review, the EP recommendations were graded according to their supporting evidence. An explicit approach to consensus methodologies was used for evidence interpretation and for producing recommendations in the absence of a strong evidence. The EP decided that the target domain of the guidelines should include only classical Hodgkin's lymphoma, as defined by the WHO classification, and exclude lymphocyte predominant histology. Distinct recommendations were produced for initial work-up, first-line therapy of early and advanced stage disease, monitoring procedures and salvage therapy, including hemopoietic stem cell transplant. Separate recommendations were formulated for elderly patients. Pre-treatment volumetric CT scan of the neck, thorax, abdomen, and pelvis is mandatory, while FDG-PET is recommended. As to the therapy of early stage disease, a combined modality approach is still recommended with ABVD followed by involved-field radiotherapy; the number of courses of ABVD will depend on the patient risk category (favorable or unfavorable). Full-term chemotherapy with ABVD is recommended in advanced stage disease; adjuvant radiotherapy in patients without initial bulk who achieved a complete remission is not recommended. In the elderly, chemotherapy regimens more intensive than ABVD are not recommended. Early evaluation of response with FDG-PET scan is suggested. Relapsed or refractory patients should receive high-dose chemotherapy and autologous hemopoietic stem cells transplant. Allogeneic transplant is recommended in patients relapsing after autologous transplant. All fertile patients should be informed of the possible effects of therapy on gonadal function and fertility preservation measures should be taken before the initiation of therapy.
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Online Support: Impact on Anxiety in Women Who Experience an Abnormal Screening Mammogram
Obadina, Eniola T.; Dubenske, Lori L.; McDowell, Helene E.; Atwood, Amy K.; Mayer, Deborah K.; Woods, Ryan W.; Gustafson, David H.; Burnside, Elizabeth S.
2014-01-01
OBJECTIVES To determine whether an online support tool can impact anxiety in women experiencing an abnormal mammogram. MATERIALS AND METHODS We developed an online support system using the Comprehensive Health Enhancement Support System (CHESS) designed for women experiencing an abnormal mammogram as a model. Our trial randomized 130 of these women to online support (the intervention group) or to a list of five commonly used Internet sites (the comparison group). Surveys assessed anxiety and breast cancer worry, and patient satisfaction at three important clinical time points: when women were notified of their abnormal mammogram, at the time of diagnostic imaging, and at the time of biopsy (if biopsy was recommended). RESULTS Study participants in the intervention group showed a significant decrease in anxiety at the time of biopsy compared to the comparison group (p=0.017). However, there was no significant difference in anxiety between the intervention group and the comparison group at the time of diagnostic work-up. We discontinued assessment of patient satisfaction after finding that many women had substantial difficulty answering the questions that referenced their physician, because they did not understand who their physician was for this process of care. CONCLUSION The combination of the inability to identify the physician providing care during the mammography work-up and anxiety effects seen only after an interaction with the breast imaging team may indicate that online support only decreases the anxiety of women in concert with direct interpersonal support from the healthcare team. PMID:25193424
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Ferrone, Cristina R; Ting, David T; Shahid, Mohammed; Konstantinidis, Ioannis T; Sabbatino, Francesco; Goyal, Lipika; Rice-Stitt, Travis; Mubeen, Ayesha; Arora, Kshitij; Bardeesey, Nabeel; Miura, John; Gamblin, T Clark; Zhu, Andrew X; Borger, Darrell; Lillemoe, Keith D; Rivera, Miguel N; Deshpande, Vikram
2016-01-01
Intrahepatic cholangiocarcinoma (ICC) often is a diagnosis determined by exclusion. Distinguishing ICC from other metastatic adenocarcinomas based on histopathologic or immunohistochemical analysis often is difficult and requires an extensive workup. This study aimed to determine whether albumin, whose expression is restricted to the liver, has potential as a biomarker for ICC using a novel and highly sensitive RNA in situ hybridization (ISH) platform. Modified branched DNA probes were developed for albumin RNA ISH. The study evaluated 467 patient samples of primary and metastatic lesions. Of the 467 samples evaluated, 83 were ICCs, 42 were hepatocellular carcinomas (HCCs), and 332 were nonhepatic carcinomas including tumors arising from the perihilar region and bile duct, pancreas, stomach, esophagus, colon, breast, ovary, endometrium, kidney, and urinary bladder. Albumin RNA ISH was highly sensitive for cancers of liver origin, staining positive in 82 (99 %) of 83 ICCs and in 42 HCCs (100 %). Perihilar and distal bile duct carcinomas as well as carcinomas arising at other sites tested negative for albumin. Notably, 6 (22 %) of 27 intrahepatic tumors previously diagnosed as carcinomas of undetermined origin tested positive for albumin. Albumin RNA ISH is a sensitive and highly specific diagnostic tool for distinguishing ICC from metastatic adenocarcinoma to the liver or carcinoma of unknown origin. Albumin RNA ISH could replace the extensive diagnostic workup, leading to timely confirmation of the ICC diagnosis. Additionally, the assay could serve as a guide to distinguish ICC from perihilar adenocarcinoma.
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Validation of the Danish Addenbrooke's Cognitive Examination as a screening test in a memory clinic.
Stokholm, Jette; Vogel, Asmus; Johannsen, Peter; Waldemar, Gunhild
2009-01-01
Addenbrooke's Cognitive Examination (ACE) is a cognitive screening test developed to detect dementia. It has been validated in several countries. Validation studies have predominantly included patients with various degrees of dementia and healthy controls. The aim of this study was to evaluate the Danish version of ACE as a screening test for early dementia in an outpatient memory clinic. Further, we wanted to investigate the ability of the ACE to discriminate patients with early Alzheimer's disease (AD) from patients with depression. 78 patients with mild AD (MMSE >or=20), 30 non-demented patients diagnosed with depression (originally referred for evaluation of cognitive symptoms), and 63 healthy volunteers, all between 60 and 85 years of age, were included. All patients were given the ACE as a supplement to the standard diagnostic work-up. The cut-off points for optimal trade-off between sensitivity and specificity for ACE were 85/86 (sensitivity 0.99, specificity 0.94). When these cut-off points were applied to the group of depressive patients, the specificity dropped to 0.64, indicating a great overlap in individual test scores for demented and depressed patients. The optimal cut-off points for ACE found in this Danish study were close to what is reported in most other European studies. The great overlap in ACE scores for demented and depressed patients emphasize that test scores must be interpreted with great caution when used in diagnostic work-up.
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Kristoffersen, Ann Helen; Ajzner, Eva; Rogic, Dunja; Sozmen, Eser Y; Carraro, Paolo; Faria, Ana Paula; Watine, Joseph; Meijer, Piet; Sandberg, Sverre
2016-06-01
Clinical algorithms consisting of pre-test probability estimation and D-dimer testing are recommended in diagnostic work-up for suspected venous thromboembolism (VTE). The aim of this study was to explore how physicians working in emergency departments investigated patients suspected to have VTE. A questionnaire with two case histories related to the diagnosis of suspected pulmonary embolism (PE) (Case A) and deep venous thrombosis (DVT) (Case B) were sent to physicians in six European countries. The physicians were asked to estimate pre-test probability of VTE, and indicate their clinical actions. In total, 487 physicians were included. Sixty percent assessed pre-test probability of PE to be high in Case A, but 7% would still request only D-dimer and 11% would exclude PE if D-dimer was negative, which could be hazardous. Besides imaging, a D-dimer test was requested by 41%, which is a "waste of resources" (extra costs and efforts, no clinical benefit). For Case B, 92% assessed pre-test probability of DVT to be low. Correctly, only D-dimer was requested by 66% of the physicians, while 26% requested imaging, alone or in addition to D-dimer, which is a "waste of resources". These results should encourage scientific societies to improve the dissemination and knowledge of the current recommendations for the diagnosis of VTE. Copyright © 2016 Elsevier Ltd. All rights reserved.
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Rubenwolf, P; Herrmann-Nuber, J; Schreckenberger, M; Stein, R; Beetz, R
2016-11-01
Primary non-refluxing megaureter (pMU) is a multifaceted and challenging congenital pathology of the urinary tract. We report our 23-year experience with this anomaly in terms of presentation, diagnostic work-up and management. We retrospectively reviewed the medical records of 212 children diagnosed with pMU between 1986 and 2009 at our institution. Mean follow-up was 45.17 (0-192) months. Of the total, 168 (79 %) children presented with upper urinary tract dilation on perinatal ultrasound screening. In 44 (21 %) patients, the diagnosis was made following diagnostic work-up of a urinary tract infection (UTI, 18 %) or flank pain (3 %). In total, 203 of 254 pMUs (79.9 %) were successfully treated conservatively during the 23-year observation period. Forty-eight children (23 %) underwent ureteric reimplantation. UTIs occurred in 91 of 212 children (43 %). Of these, 41 (45 %) occurred despite antibacterial infection prophylaxis. Within the past three decades, there has been a marked shift from surgical toward conservative therapy at our institution. Neonatal renal ultrasound is the method of choice to timely identify children with pMU and, alongside dynamic renography, to monitor the clinical course. Nowadays, only a minor subset of children with asymptomatic course requires surgical correction. Antibacterial prophylaxis has the potential to reduce the risk of febrile UTIs. Prospective randomized studies are warranted to provide evidence of the beneficial effect of antibacterial prophylaxis.
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Online support: Impact on anxiety in women who experience an abnormal screening mammogram.
Obadina, Eniola T; Dubenske, Lori L; McDowell, Helene E; Atwood, Amy K; Mayer, Deborah K; Woods, Ryan W; Gustafson, David H; Burnside, Elizabeth S
2014-12-01
To determine whether an online support tool can impact anxiety in women experiencing an abnormal mammogram. We developed an online support system using the Comprehensive Health Enhancement Support System (CHESS) designed for women experiencing an abnormal mammogram as a model. Our trial randomized 130 of these women to online support (the intervention group) or to a list of five commonly used Internet sites (the comparison group). Surveys assessed anxiety and breast cancer worry, and patient satisfaction at three important clinical time points: when women were notified of their abnormal mammogram, at the time of diagnostic imaging, and at the time of biopsy (if biopsy was recommended). Study participants in the intervention group showed a significant decrease in anxiety at the time of biopsy compared to the comparison group (p = 0.017). However, there was no significant difference in anxiety between the intervention group and the comparison group at the time of diagnostic work-up. We discontinued assessment of patient satisfaction after finding that many women had substantial difficulty answering the questions that referenced their physician, because they did not understand who their physician was for this process of care. The combination of the inability to identify the physician providing care during the mammography work-up and anxiety effects seen only after an interaction with the breast imaging team may indicate that online support only decreases the anxiety of women in concert with direct interpersonal support from the healthcare team. Copyright © 2014 Elsevier Ltd. All rights reserved.
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Villard, Odile; Creuzot-Garcher, Catherine; Chiquet, Christophe; Berrod, Jean-Paul; Speeg-Schatz, Claude; Bourcier, Tristan; Candolfi, Ermanno
2014-01-01
Uveitis is a potentially blinding inflammatory disease. Thirty to 50% of uveitis cases are considered idiopathic. The present study sought to determine the intraocular cytokine patterns in the different etiological types of uveitis in order to better understand their immunological regulation and to determine whether the cytokine pattern may be a useful diagnostic tool. From a multicenter institutional prospective study, the clinical and biological data from patients with uveitis of various etiologies, determined after a complete workup, were compared with those from a control group of cataract patients. A multiplex assay was used to assess the profiles of 27 cytokines and chemokines in aqueous humor samples from these patients. In total, 62 patients with infectious or noninfectious uveitis and 88 controls were included. After a complete workup, the cause of uveitis remained unknown in 25 patients (40% idiopathic uveitis). Interleukin 1β (IL-1β) levels were markedly increased in viral uveitis, as were IL-10 levels, whereas IL-17A levels were augmented in toxoplasmic uveitis. Based on the cytokine pattern, the patients were reassigned to specific groups. At the end of the study, the diagnosis of idiopathic uveitis was still valid in only 11 patients (18%). The observation that some markers are specific to certain diseases enables a better understanding of the disease pathogenesis and paves the way for new diagnostic methods aimed to identify inflammatory markers, which may perhaps be targeted by therapy. PMID:25378353
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López Ruiz, J A; Zabalza Estévez, I; Mieza Arana, J A
2016-01-01
To evaluate the possibility of determining the genetic profile of primary malignant tumors of the breast from specimens obtained by ultrasound-guided percutaneous biopsies during the diagnostic imaging workup. This is a retrospective study in 13 consecutive patients diagnosed with invasive breast cancer by B-mode ultrasound-guided 12 G core needle biopsy. After clinical indication, the pathologist decided whether the paraffin block specimens seemed suitable (on the basis of tumor size, validity of the sample, and percentage of tumor cells) before sending them for genetic analysis with the MammaPrint® platform. The size of the tumors on ultrasound ranged from 0.6cm to 5cm. In 11 patients the preserved specimen was considered valid and suitable for use in determining the genetic profile. In 1 patient (with a 1cm tumor) the pathologist decided that it was necessary to repeat the core biopsy to obtain additional samples. In 1 patient (with a 5cm tumor) the specimen was not considered valid by the genetic laboratory. The percentage of tumor cells in the samples ranged from 60% to 70%. In 11/13 cases (84.62%) it was possible to do the genetic analysis on the previously diagnosed samples. In most cases, regardless of tumor size, it is possible to obtain the genetic profile from tissue specimens obtained with ultrasound-guided 12 G core biopsy preserved in paraffin blocks. Copyright © 2015 SERAM. Published by Elsevier España, S.L.U. All rights reserved.
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Vissers, Lisenka E L M; van Nimwegen, Kirsten J M; Schieving, Jolanda H; Kamsteeg, Erik-Jan; Kleefstra, Tjitske; Yntema, Helger G; Pfundt, Rolph; van der Wilt, Gert Jan; Krabbenborg, Lotte; Brunner, Han G; van der Burg, Simone; Grutters, Janneke; Veltman, Joris A; Willemsen, Michèl A A P
2017-09-01
Implementation of novel genetic diagnostic tests is generally driven by technological advances because they promise shorter turnaround times and/or higher diagnostic yields. Other aspects, including impact on clinical management or cost-effectiveness, are often not assessed in detail prior to implementation. We studied the clinical utility of whole-exome sequencing (WES) in complex pediatric neurology in terms of diagnostic yield and costs. We analyzed 150 patients (and their parents) presenting with complex neurological disorders of suspected genetic origin. In a parallel study, all patients received both the standard diagnostic workup (e.g., cerebral imaging, muscle biopsies or lumbar punctures, and sequential gene-by-gene-based testing) and WES simultaneously. Our unique study design allowed direct comparison of diagnostic yield of both trajectories and provided insight into the economic implications of implementing WES in this diagnostic trajectory. We showed that WES identified significantly more conclusive diagnoses (29.3%) than the standard care pathway (7.3%) without incurring higher costs. Exploratory analysis of WES as a first-tier diagnostic test indicates that WES may even be cost-saving, depending on the extent of other tests being omitted. Our data support such a use of WES in pediatric neurology for disorders of presumed genetic origin.Genet Med advance online publication 23 March 2017.
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Resource utilization in lung cancer diagnostic procedures: Current use and budget consequences.
Brinkhof, Sander; Groen, Harry J M; Siesling, Sabine S; IJzerman, Maarten J
2017-01-01
The main objective of this study is to determine the current use of lung cancer diagnostic procedures in two large hospitals in the Netherlands, to explore deviations in guideline adherence between the hospitals, and to estimate the budget impact of the diagnostic work-up as well as the over- and underutilization. A state transition model for the diagnostic pathway for lung cancer patients was developed using existing clinical practice guidelines (CPG) combined with a systematic literature. In addition to the CPGs depicting current practice, diagnostic utilization was gathered in two large hospitals representing an academic tertiary care hospital and a large regional teaching hospital for patients, who were selected from the Netherlands cancer registry. The total population consisted of 376 patients with lung cancer. Not in all cases the guideline was followed, for instance in the usage of MR brain with stage III lung cancer patients (n = 70). The state-transition model predicts an average budget impact for the diagnostic pathway per patient estimated of € 2496 in the academic tertiary care hospital and € 2191 in the large regional teaching hospital. The adherence to the CPG's differed between hospitals, which questions the adherence to CPG's in general. Adherence to CPG's could lead to less costs in the diagnostic pathway for lung cancer patients.
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Vissers, Lisenka E.L.M.; van Nimwegen, Kirsten J.M.; Schieving, Jolanda H.; Kamsteeg, Erik-Jan; Kleefstra, Tjitske; Yntema, Helger G.; Pfundt, Rolph; van der Wilt, Gert Jan; Krabbenborg, Lotte; Brunner, Han G.; van der Burg, Simone; Grutters, Janneke; Veltman, Joris A.; Willemsen, Michèl A.A.P.
2017-01-01
Purpose: Implementation of novel genetic diagnostic tests is generally driven by technological advances because they promise shorter turnaround times and/or higher diagnostic yields. Other aspects, including impact on clinical management or cost-effectiveness, are often not assessed in detail prior to implementation. Methods: We studied the clinical utility of whole-exome sequencing (WES) in complex pediatric neurology in terms of diagnostic yield and costs. We analyzed 150 patients (and their parents) presenting with complex neurological disorders of suspected genetic origin. In a parallel study, all patients received both the standard diagnostic workup (e.g., cerebral imaging, muscle biopsies or lumbar punctures, and sequential gene-by-gene–based testing) and WES simultaneously. Results: Our unique study design allowed direct comparison of diagnostic yield of both trajectories and provided insight into the economic implications of implementing WES in this diagnostic trajectory. We showed that WES identified significantly more conclusive diagnoses (29.3%) than the standard care pathway (7.3%) without incurring higher costs. Exploratory analysis of WES as a first-tier diagnostic test indicates that WES may even be cost-saving, depending on the extent of other tests being omitted. Conclusion: Our data support such a use of WES in pediatric neurology for disorders of presumed genetic origin. Genet Med advance online publication 23 March 2017 PMID:28333917
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Diagnostic indices for vertiginous diseases
2010-01-01
Background Vertigo and dizziness are symptoms which are reported frequently in clinical practice. We aimed to develop diagnostic indices for four prevalent vertiginous diseases: benign paroxysmal positional vertigo (BPPV), Menière's disease (MD), vestibular migraine (VM), and phobic postural vertigo (PPV). Methods Based on a detailed questionnaire handed out to consecutive patients presenting for the first time in our dizziness clinic we preselected a set of seven questions with desirable diagnostic properties when compared with the final diagnosis after medical workup. Using exact logistic regression analysis diagnostic scores, each comprising of four to six items that can simply be added up, were built for each of the four diagnoses. Results Of 193 patients 131 questionnaires were left after excluding those with missing consent or data. Applying the suggested cut-off points, sensitivity and specificity were 87.5 and 93.5% for BPPV, 100 and 87.4% for MD, 92.3 and 83.7% for VM, 73.7 and 84.1% for PPV, respectively. By changing the cut-off points sensitivity and specificity can be adjusted to meet diagnostic needs. Conclusions The diagnostic indices showed promising diagnostic properties. Once further validated, they could provide an ease to use and yet flexible tool for screening vertigo in clinical practice and epidemiological research. PMID:20973968
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Barrett, Tyler W; Rising, Kristin L; Bellolio, M Fernanda; Hall, M Kennedy; Brody, Aaron; Dodd, Kenneth W; Grieser, Mira; Levy, Phillip D; Raja, Ali S; Self, Wesley H; Weingarten, Gail; Hess, Erik P; Hollander, Judd E
2016-12-01
Diagnostic testing is an integral component of patient evaluation in the emergency department (ED). Emergency clinicians frequently use diagnostic testing to more confidently exclude "worst-case" diagnoses rather than to determine the most likely etiology for a presenting complaint. Increased utilization of diagnostic testing has not been associated with reductions in disease-related mortality but has led to increased overall healthcare costs and other unintended consequences (e.g., incidental findings requiring further workup, unnecessary exposure to ionizing radiation or potentially nephrotoxic contrast). Shared decision making (SDM) presents an opportunity for clinicians to discuss the benefits and harms associated with diagnostic testing with patients to more closely tailor testing to patient risk. This article introduces the challenges and opportunities associated with incorporating SDM into emergency care by summarizing the conclusions of the diagnostic testing group at the 2016 Academic Emergency Medicine Consensus Conference on SDM. Three primary domains emerged: 1) characteristics of a condition or test appropriate for SDM, 2) critical elements of and potential barriers to SDM discussions on diagnostic testing, and 3) financial aspects of SDM applied to diagnostic testing. The most critical research questions to improve engagement of patients in their acute care diagnostic decisions were determined by consensus. © 2016 by the Society for Academic Emergency Medicine.
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Congo crimean hemorrhagic Fever in balochistan.
Durrani, Abdul Baqi; Shaikh, Muzaffar; Khan, Zahir
2007-09-01
To observe the pattern and mortality of Congo-Crimean Hemorrhagic Fever (CCHF) in Balochistan. Case series. Department of Medicine, Sandeman Provincial Hospital and Bolan Medical Complex Hospital, Quetta, from September, 1995 to August, 2005. Two hundred and twenty-six febrile patients with bleeding of sudden onset, with initial signs and symptoms including headache, high fever, back pain, joint pain, stomach pain, vomiting, red eyes, flushed face, red throat and petechiae on the palate of both sexes were screened for CCHF over a period of 10 years. Clinical criteria for initial diagnosis directed the subsequent diagnostic work-up. The ages of these patients ranged from 7 years to 74 years. Sixty-three percent of these patients were positive for CCHF. Males were 68% of the total patients. Over the years, CCHF showed a gradual increase ranging from 43% to 80%. Total mortality was 15%, all being secondary cases. Death was not observed in primary CCHF cases. In this study, suspicion of viral hemorrhagic fever was raised in 62% cases at the time of admission and the patients were immediately isolated, noninvasive procedures were instigated and barrier nursing was implemented. None of the family and hospital staff members who had close contact with the patient became ill, while those who were not suspected initially (38%) infected the health care workers and the family members. Although CCHF is rare, this study stresses the need for proper health facilities in Pakistan and to include VHF (viral hemorrhagic fevers) in the differential diagnosis of unexplained fever with hemorrhagic tendencies of sudden onset.
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Automatic Generation of Conditional Diagnostic Guidelines.
Baldwin, Tyler; Guo, Yufan; Syeda-Mahmood, Tanveer
2016-01-01
The diagnostic workup for many diseases can be extraordinarily nuanced, and as such reference material text often contains extensive information regarding when it is appropriate to have a patient undergo a given procedure. In this work we employ a three task pipeline for the extraction of statements indicating the conditions under which a procedure should be performed, given a suspected diagnosis. First, we identify each instance in the text where a procedure is being recommended. Next we examine the context around these recommendations to extract conditional statements that dictate the conditions under which the recommendation holds. Finally, corefering recommendations across the document are linked to produce a full recommendation summary. Results indicate that each underlying task can be performed with above baseline performance, and the output can be used to produce concise recommendation summaries.
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Quinn, Davin K; Rees, Caleb; Brodsky, Aaron; Deligtisch, Amanda; Evans, Daniel; Khafaja, Mohamad; Abbott, Christopher C
2014-09-01
The presence of a deep brain stimulator (DBS) in a patient who develops neuropsychiatric symptoms poses unique diagnostic challenges and questions for the treating psychiatrist. Catatonia has been described only once, during DBS implantation, but has not been reported in a successfully implanted DBS patient. We present a case of a patient with bipolar disorder and renal transplant who developed catatonia after DBS for essential tremor. The patient was successfully treated for catatonia with lorazepam and electroconvulsive therapy after careful diagnostic workup. Electroconvulsive therapy has been successfully used with DBS in a handful of cases, and certain precautions may help reduce potential risk. Catatonia is a rare occurrence after DBS but when present may be safely treated with standard therapies such as lorazepam and electroconvulsive therapy.
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Possible anti-VGKC autoimmune limbic encephalitis associated with SIADH.
Black, Nicholas; Hamada, Hazim
2018-03-07
An 80-year-old woman presented with a 5-week history of increasing confusion. Examination was remarkable only for deficits in short-term memory and paranoid thoughts. Blood tests revealed hyponatraemia, and further biochemical testing was consistent with syndrome of inappropriate antidiuretic hormone (SIADH). After an exhaustive diagnostic workup for causes of SIADH, the only abnormal finding was a mildly raised antivoltage-gated potassium channel (VGKC) titre of 185 pmol/L (0-69) consistent with possible anti-VGKC autoimmune limbic encephalitis. However, other diagnostic features were absent. She is currently undergoing outpatient investigation for other causes of memory loss. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.
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Back pain and scoliosis in children: When to image, what to consider.
Calloni, Sonia F; Huisman, Thierry Agm; Poretti, Andrea; Soares, Bruno P
2017-10-01
Back pain and scoliosis in children most commonly present as benign and self-limited entities. However, persistent back pain and/or progressive scoliosis should always be taken seriously in children. Dedicated diagnostic work-up should exclude etiologies that may result in significant morbidity. Clinical evaluation and management require a comprehensive history and physical and neurological examination. A correct imaging approach is important to define a clear diagnosis and should be reserved for children with persistent symptoms or concerning clinical and laboratory findings. This article reviews the role of different imaging techniques in the diagnostic approach to back pain and scoliosis, and offers a comprehensive review of the main imaging findings associated with common and uncommon causes of back pain and scoliosis in the pediatric population.
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Santiago, Jonas F.; Jana, Suman; Gilbert, Holly M.; Salem, Shahenda; Bellman, Paul Curtis; Hsu, Ricky K.S.; Naddaf, Sleiman; Abdel-Dayem, Hussein M.
1999-11-01
OBJECTIVE AND METHODS: This study was undertaken to find the role of fluorine-18-fluorodeoxyglucose (F18-FDG) in the diagnostic work-up of febrile Acquired Immune Deficiency Syndrome (AIDS) patients. Forty-seven (42 male and 5 female; mean age = 40.3 years) febrile patients with AIDS underwent imaging with F18-FDG by Dual Head Coincidence Imaging (DHCI). Findings were correlated with other imaging modalities.RESULTS: Our data show good sensitivity for scanning with F18-FDG by DHCI in determining the extent of Castleman's disease, lymphoma, Kaposi's sarcoma (KS), adenocarcinoma, and germ cell carcinoma. Various opportunistic infections also manifest with increased F18-FDG uptake.CONCLUSION: Total-body imaging can be done with F18-FDG with better resolution and a shorter procedure time compared to imaging with Gallium-67 (Ga-67). Furthermore, F18-FDG is more sensitive than Ga-67 for evaluating extent of involvement in various pathologies affecting AIDS patients. The new technology of DHCI is a good alternative for hospitals with no dedicated positron emission tomography (PET) scanner.
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Recurrent Acute Pancreatitis: International State-of-the-Science Conference With Recommendations.
Guda, Nalini M; Muddana, Venkata; Whitcomb, David C; Levy, Philippe; Garg, Pramod; Cote, Gregory; Uc, Aliye; Varadarajulu, Shyam; Vege, Santhi S; Chari, Suresh T; Forsmark, Chris E; Yadav, Dhiraj; Reddy, D Nageshwar; Tenner, Scott; Johnson, Colin D; Akisik, Fatih; Saluja, Ashok K; Lerch, Markus M; Mallery, J Shawn; Freeman, Martin L
2018-07-01
Recurrent acute pancreatitis (RAP) is a clinically significant problem globally. The etiology remains unclear in approximately 10% to 15% of patients despite a thorough workup. Data on natural history and efficacy of treatments are limited. We aimed to establish criteria for diagnosis, evaluate the causative factors, and arrive at a consensus on the appropriate workup and management of patients with RAP. The organizing committee was formed, and a set of questions was developed based on the current evidence, controversies, and topics that needed further research. After a vetting process, these topics were assigned to a group of experts from around the world with special interest in RAP. Data were presented as part of a workshop on RAP organized as a part of the annual meeting of the America Pancreatic Association. Pretest and Posttest questions were administered, and the responses were tabulated by the current Grades of Recommendation Assessment, Development and Evaluation system. The consensus guidelines were established in the format of a diagnostic algorithm. Several deficiencies were identified with respect to data on etiology, treatment efficacies, and areas that need immediate research.
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Pediatric colonic volvulus: A single-institution experience and review.
Tannouri, Sami; Hendi, Aditi; Gilje, Elizabeth; Grissom, Leslie; Katz, Douglas
2017-06-01
Pediatric colonic volvulus is both rare and underreported. Existing literature consists only of case reports and small series. We present an analysis of cases (n=11) over 15 years at a single institution, focusing on workup and diagnosis. This was an institutional review board approved single-institution retrospective chart review of 11 cases of large bowel volvulus occurring over 15 years (2000-2015). In our series, the most common presenting symptoms were abdominal pain and distention. Afflicted patients often had prior abdominal surgery, a neurodevelopmental disorder or chronic constipation. Of the imaging modalities utilized in the 11 patients studied, colonic volvulus was correctly diagnosed by barium enema in 100% of both cases, CT in 55.6% of cases and by plain radiography of the abdomen in only 22.2%of cases. Colonic volvulus was confirmed by laparotomy in all cases. The cecum (n=5) was the most often affected colonic segment, followed by the sigmoid (n=3). Operative treatment mainly consisted of resection (63.6%) and ostomy creation (36.4%). Colopexy was performed in 18.2% of cases. Plain abdominal radiography may be performed as an initial diagnostic study, however, it should be followed CT or air or contrast enema in children where there is high clinical suspicion and who do not have indications for immediate laparotomy. CT may be the most specific and useful test in diagnosis of colonic volvulus and has the added advantage of detection of complications including bowel ischemia. We demonstrate a range of diagnostic and therapeutic modalities for pediatric colonic volvulus. This underscores the need for further study to draft standard best practices for this life-threatening condition. Prognosis Study: Level IV. Study of a Diagnostic Test: Level III. Copyright © 2017 Elsevier Inc. All rights reserved.
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Lehloenya, R J; Todd, G; Wallace, J; Ngwanya, M R; Muloiwa, R; Dheda, K
2016-07-01
The incidence of cutaneous adverse drug reactions (CADRs) to first-line antituberculosis drugs (FLTDs) is higher in HIV-tuberculosis coinfection. However, the utility of patch testing to identify the offending drug in this patient subgroup has been poorly studied. To identify drugs causing adverse drug reactions in patients with HIV-tuberculosis coinfection. Fourteen consecutive patients underwent diagnostic work-up (patch testing followed by a skin prick test and an oral rechallenge) to pinpoint the offending drug after developing FLTD-associated CADR, which included drug rash with eosinophilia and systemic symptoms (n = 12), Stevens-Johnson syndrome (SJS, n = 1) and toxic epidermal necrolysis/SJS overlap (n = 1). A positive reaction to any of the three diagnostic modalities eliminated that drug from the regimen. Once patients were clinically stable postreaction, sequential and additive rechallenge with FLTDs was initiated. Eleven of the 14 participants with FLTD-associated CADR were HIV infected (median CD4 count 149 cells mm(-3) ). In this subgroup, patch testing resulted in generalized systemic reactions in 10 of 11 patients (91%). These included rash in 10 of 13 reactions (77%), eosinophilia in eight (62%), transaminitis in seven (54%) and fever in five (38%). Isoniazid caused six of 13 (46%) generalized systemic reactions, rifampicin four (31%), ethambutol two (15%) and pyrazinamide one reaction. Using the Common Terminology Criteria for Adverse Events, five of 13 reactions were mild, six were moderate and two were severe. There were no life-threatening or fatal reactions. In HIV-infected persons with tuberculosis-associated CADR, although patch-testing reactions to FLTD are common and tend to be associated with systemic features, they are not life threatening or fatal. These data inform clinical practice in HIV-endemic settings. © 2016 British Association of Dermatologists.
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2016-01-01
Copper is an essential nutrient for life, but at the same time, hyperaccumulation of this redox-active metal in biological fluids and tissues is a hallmark of pathologies such as Wilson’s and Menkes diseases, various neurodegenerative diseases, and toxic environmental exposure. Diseases characterized by copper hyperaccumulation are currently challenging to identify due to costly diagnostic tools that involve extensive technical workup. Motivated to create simple yet highly selective and sensitive diagnostic tools, we have initiated a program to develop new materials that can enable monitoring of copper levels in biological fluid samples without complex and expensive instrumentation. Herein, we report the design, synthesis, and properties of PAF-1-SMe, a robust three-dimensional porous aromatic framework (PAF) densely functionalized with thioether groups for selective capture and concentration of copper from biofluids as well as aqueous samples. PAF-1-SMe exhibits a high selectivity for copper over other biologically relevant metals, with a saturation capacity reaching over 600 mg/g. Moreover, the combination of PAF-1-SMe as a material for capture and concentration of copper from biological samples with 8-hydroxyquinoline as a colorimetric indicator affords a method for identifying aberrant elevations of copper in urine samples from mice with Wilson’s disease and also tracing exogenously added copper in serum. This divide-and-conquer sensing strategy, where functional and robust porous materials serve as molecular recognition elements that can be used to capture and concentrate analytes in conjunction with molecular indicators for signal readouts, establishes a valuable starting point for the use of porous polymeric materials in noninvasive diagnostic applications. PMID:27285482
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Risk factors for autism: translating genomic discoveries into diagnostics.
Scherer, Stephen W; Dawson, Geraldine
2011-07-01
Autism spectrum disorders (ASDs) are a group of conditions characterized by impairments in communication and reciprocal social interaction, and the presence of restricted and repetitive behaviors. The spectrum of autistic features is variable, with severity of symptoms ranging from mild to severe, sometimes with poor clinical outcomes. Twin and family studies indicate a strong genetic basis for ASD susceptibility. Recent progress in defining rare highly penetrant mutations and copy number variations as ASD risk factors has prompted early uptake of these research findings into clinical diagnostics, with microarrays becoming a 'standard of care' test for any ASD diagnostic work-up. The ever-changing landscape of the generation of genomic data coupled with the vast heterogeneity in cause and expression of ASDs (further influenced by issues of penetrance, variable expressivity, multigenic inheritance and ascertainment) creates complexity that demands careful consideration of how to apply this knowledge. Here, we discuss the scientific, ethical, policy and communication aspects of translating the new discoveries into clinical and diagnostic tools for promoting the well-being of individuals and families with ASDs.
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Woodstove smoke and CO emissions: comparison of reference methods with the VIP sampler.
Jaasma, D R; Champion, M C; Shelton, J W
1990-06-01
A new field sampler has been developed for measuring the particulate matter (PM) and carbon monoxide emissions of woodburning stoves. Particulate matter is determined by carbon balance and the workup of a sample train which is similar to a room-temperature EPA Method 5G train. A steel tank, initially evacuated, serves as the motive force for sampling and also accumulates a gas sample for post-test analysis of time-averaged stack CO and CO2 concentrations. Workup procedures can be completed within 72 hours of sampler retrieval. The system has been compared to reference methods in two laboratory test series involving six different woodburning appliances and two independent laboratories. The correlation of field sampler emission rates and reference method rates is strong.
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Woodstove smoke and CO emissions: Comparison of reference methods with the VIP sampler
DOE Office of Scientific and Technical Information (OSTI.GOV)
Jaasma, D.R.; Champion, M.C.; Shelton, J.W.
1990-06-01
A new field sampler has been developed for measuring the particulate matter (PM) and carbon monoxide emissions of woodburning stoves. Particulate matter is determined by carbon balance and the workup of a sample train which is similar to a room-temperature EPA Method 5G train. A steel tank, initially evacuated, serves as the motive force for sampling and also accumulates a gas sample for post-test analysis of time-averaged stack CO and CO{sub 2} concentrations. Workup procedures can be completed within 72 hours of sampler retrieval. The system has been compared to reference methods in two laboratory test series involving six differentmore » woodburning appliances and two independent laboratories. The correlation of field sampler emission rates and reference method rates is strong.« less
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Congenital heart disease manifested as acute abdominal pain.
Macha, Mahender; Gupta, Dipin; Molina, Ezequiel; Palma, Jon; Rothman, Steven
2007-06-12
We present a case of a 53-year-old man with complaints of severe abdominal pain and nausea. Emergency department abdominal workup was non-diagnostic. Physical examination revealed signs of right- and left-heart failure. A past medical history of dysrhythmias and chronic abdominal complaints prompted hospital admission. Subsequent right heart catheterization revealed a significant left-to-right shunt. CT scan of the chest and angiography confirmed the diagnosis of an abnormal ascending vein between the innominate vein and the left superior pulmonary vein. After the anomalous vein was ligated, the patient's abdominal pain resolved.
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Fetal MRI at 3T—ready for routine use?
Weisstanner, Christian; Gruber, Gerlinde M; Brugger, Peter C; Mitter, Christan; Diogo, Mariana C; Kasprian, Gregor
2017-01-01
Fetal MR now plays an important role in the clinical work-up of pregnant females. It is performed mainly at 1.5 T. However, the desire to obtain a more precise fetal depiction or the fact that some institutions have access only to a 3.0 T scanner has resulted in a growing interest in performing fetal MR at 3.0 T. The aim of this article was to provide a reference for the use of 3.0 T MRI as a prenatal diagnostic method. PMID:27768394
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Chisholm, Peter; Anpalahan, Mahesan
2017-04-01
Both hypertension and orthostatic hypotension (OH) are strongly age-associated and are common management problems in older people. However, unlike hypertension, management of OH has unique challenges with few well-established treatments. Not infrequently, they both coexist, further compounding the management. This review provides comprehensive information on OH, including pathophysiology, diagnostic workup and treatment, with a view to provide a practical guide to its management. Special references are made to patients with supine hypertension and postprandial hypotension and older hypertensive patients. © 2016 Royal Australasian College of Physicians.
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Martins, N; Polido-Pereira, J; Rodrigues, A M; Soares, F; Batista, P; Pereira da Silva, J A
2016-01-01
Giant Cell Arteritis (GCA) is a large vessels vasculitis that is typically characterised by headache, scalp tenderness, jaw claudication and visual disturbances. Temporal arteries color Doppler ultrasonography (CDUS) is a sensitive and non-invasive image technique used in the diagnosis of this disease. This work highlights the importance of CDUS in the diagnostic workup of GCA and also demonstrates it´s usefullness in the evaluation and documentation of the response to corticosteroids therapy in an atypical case of ACG.
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Postural headache in a child with Marfan syndrome: case report and review of the literature.
Rosser, Tena; Finkel, Julie; Vezina, Gilbert; Majd, Massoud
2005-02-01
The case of a 10-year-old female with Marfan syndrome and postural headache secondary to spontaneous intracranial hypotension is described. The patient was found to have multiple dural ectasias and a cerebrospinal fluid leak at the left cervicothoracic junction. Her presentation, diagnostic work-up, and management are reviewed, and the relevant literature is discussed. Spontaneous intracranial hypotension secondary to cerebrospinal fluid leaks from dural ectasia should be recognized as a potential complication in children with Marfan syndrome and other connective tissue diseases.
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Assessing clinicians' management of first episode schizophrenia using clinical case vignettes.
Huffman, Jeff C; Freudenreich, Oliver; Romeo, Sarah; Baer, Lee; Sutton-Skinner, Kelly; Petersen, Tim; Fromson, John A; Birnbaum, Robert J
2010-02-01
Patients with first episode schizophrenia may present in a variety of clinical settings to providers who have a range of knowledge and skills. A thoughtful workup of patients with new-onset psychosis is critical, and the treatment of first episode schizophrenia differs from that of chronic psychotic disorders. Clinical case vignettes with free-form responses can be used to carefully assess whether front line practitioners provide guideline-adherent management of first episode psychosis. A clinical case vignette, presenting a patient with first episode schizophrenia, was created and administered to the attendees of a continuing medical education programme. Free-form responses to questions regarding differential diagnosis, workup, treatment and treatment duration were scored based on published practice guidelines. Response frequencies were tabulated and performance was compared among professional disciplines. Sixty-two attendees completed the vignette. Though the attendees typically considered a broad differential diagnosis and appropriately initiated treatment with antipsychotics, the respondents' proposed medical workup was limited, and they prescribed antipsychotics at higher doses and for a shorter duration than recommended in the literature. The prescribers outperformed the non-prescribers on treatment questions (P = 0.006), but the two groups' performance did not significantly differ on the assessment questions (P = 0.08). The front line clinicians who encounter patients with first episode schizophrenia may have significant practice gaps in the initial and follow-up care of these patients. Given the preliminary nature of this study and the debate about the optimal care for first episode psychosis, further study is needed. If such gaps are confirmed, additional educational interventions are required to align clinical management with published practice guidelines.
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Chai, Jia Hui; Lee, Chun Kiat; Lee, Hong Kai; Wong, Nicholas; Teo, Kahwee; Tan, Chuen Seng; Thokala, Praveen; Tang, Julian Wei-Tze; Tambyah, Paul Anantharajah; Oh, Vernon Min Sen; Loh, Tze Ping; Yoong, Joanne
2018-01-01
Pyrexia of unknown origin (PUO) is defined as a temperature of >38.3°C that lasts for >3 weeks, where no cause can be found despite appropriate investigation. Existing protocols for the work-up of PUO can be extensive and costly, motivating the application of recent advances in molecular diagnostics to pathogen testing. There have been many reports describing various analytical methods and performance of metagenomic pathogen testing in clinical samples but the economics of it has been less well studied. This study pragmatically evaluates the feasibility of introducing metagenomic testing in this setting by assessing the relative cost of clinically-relevant strategies employing this investigative tool under various cost and performance scenarios using Singapore as a demonstration case, and assessing the price and performance benchmarks, which would need to be achieved for metagenomic testing to be potentially considered financially viable relative to the current diagnostic standard. This study has some important limitations: we examined only impact of introducing the metagenomic test to the overall diagnostic cost and excluded costs associated with hospitalization and makes assumptions about the performance of the routine diagnostic tests, limiting the cost of metagenomic test, and the lack of further work-up after positive pathogen detection by the metagenomic test. However, these assumptions were necessary to keep the model within reasonable limits. In spite of these, the simplified presentation lends itself to the illustration of the key insights of our paper. In general, we find the use of metagenomic testing as second-line investigation is effectively dominated, and that use of metagenomic testing at first-line would typically require higher rates of detection or lower cost than currently available in order to be justifiable purely as a cost-saving measure. We conclude that current conditions do not warrant a widespread rush to deploy metagenomic testing to resolve any and all uncertainty, but rather as a front-line technology that should be used in specific contexts, as a supplement to rather than a replacement for careful clinical judgement.
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Diagnostic performance of 64-slice multidetector coronary computed tomographic angiography in women.
Jug, Borut; Gupta, Mohit; Papazian, Jenny; Li, Dong; Tsang, Janet; Bhatia, Harpreet; Karlsberg, Ronald; Budoff, Matthew
2012-12-01
Diagnostic approach to chest pain in women is challenging, but still under-investigated. The purpose of this study was to assess the diagnostic performance of 64-slice multidetector coronary computed tomographic angiography (CCTA) in women with chest pain. We included 606 patients--255 women and 351 men (mean age 61 ± 12 years for both)--who had been referred for a CCTA and an invasive coronary angiography (diagnostic standard) because of chest pain, either as part of clinical work-up in two urban medical centers or as part of the multicenter ACCURACY trial. On a patient-based model, the sensitivity, specificity, and positive predictive value (PPV) and negative predictive value to detect ≥50% and ≥70% stenosis were 98%, 84%, 87%, and 97% and 96%, 83%, 77%, and 97%, respectively, for women and 97%, 83%, 89%, and 95% and 94%, 91%, 90%, and 94%, respectively, for men. There were no statistically significant differences between men and women in diagnostic performance measures except for the PPV of detecting a ≥70% stenosis (P = .007). In women with chest pain, 64-slice multidetector CCTA is at least as sensitive and specific as in men. Our findings suggest that CCTA is a promising diagnostic tool for timely detection and/or exclusion of CAD in symptomatic intermediate-risk female populations.
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Helminth parasitic infections of the central nervous system: a diagnostic approach.
Othman, Ahmad A; Bruschi, Fabrizio; Ganna, Ahmed A
2014-04-01
Helminth parasitic infections of the central nervous system (CNS) occur worldwide with high prevalence in tropical and subtropical countries. Clinical evaluation of patients is mandatory, and it is convenient to group the clinical manifestations into syndromes: for example space-occupying lesions, meningitis, and encephalitis. The history should focus on residence or travel to endemic areas, diet, activities, intercurrent medical conditions, and associated clinical clues. Direct parasitological diagnosis can be reached by cerebrospinal fluid and cerebral tissue examination either by microscopy, culture, or immunological techniques. Immunodiagnosis by detection of parasite antibodies or antigens in serum could provide indirect evidence of parasitic infections. In addition, various imaging and radiological techniques e.g., computed tomography (CT) scan and magnetic resonance imaging (MRI) complement the diagnostic work-up of CNS diseases. Finally, the helminthic CNS infections of global impact, such as schistosomiasis, neurotoxocariasis, Strongyloides infection, neurotrichinosis, neurocysticercosis, and echinococcosis will be briefly discussed as regards the principal clinical and diagnostic features.
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MRI CRITERIA FOR THE DIAGNOSIS OF MULTIPLE SCLEROSIS: MAGNIMS CONSENSUS GUIDELINES
Filippi, M.; Rocca, M.A.; Ciccarelli, O.; De Stefano, N.; Evangelou, N.; Kappos, L.; Rovira, A.; Sastre-Garriga, J.; Tintorè, M.; Frederiksen, J.L.; Gasperini, C.; Palace, J.; Reich, D.S.; Banwell, B.; Montalban, X.; Barkhof, F.
2016-01-01
Summary In patients presenting with a clinically isolated syndrome (CIS), magnetic resonance imaging (MRI) can support and substitute clinical information for multiple sclerosis (MS) diagnosis demonstrating disease dissemination in space (DIS) and time (DIT) and helping to rule out other conditions that can mimic MS. From their inclusion in the diagnostic work-up for MS in 2001, several modifications of MRI diagnostic criteria have been proposed, in the attempt to simplify lesion-count models for demonstrating DIS, change the timing of MRI scanning for demonstrating DIT, and increase the value of spinal cord imaging. Since the last update of these criteria, new data regarding the application of MRI for demonstrating DIS and DIT have become available and improvement in MRI technology has occurred. State-of-the-art MRI findings in these patients were discussed in a MAGNIMS workshop, the goal of which was to provide an evidence-based and expert-opinion consensus on diagnostic MRI criteria modifications. PMID:26822746
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Chronic Lower Leg Pain in Athletes
Brewer, Rachel Biber; Gregory, Andrew J. M.
2012-01-01
Context: Chronic lower leg pain in athletes can be a frustrating problem for patients and a difficult diagnosis for clinicians. Myriad approaches have been suggested to evaluate these conditions. With the continued evolution of diagnostic studies, evidence-based guidance for a standard approach is unfortunately sparse. Evidence Acquisition: PubMed was searched from January 1980 to May 2011 to identify publications regarding chronic lower leg pain in athletes (excluding conditions related to the foot), including differential diagnosis, clinical presentation, physical examination, history, diagnostic workup, and treatment. Results: Leg pain in athletes can be caused by many conditions, with the most frequent being medial tibial stress syndrome; chronic exertional compartment syndrome, stress fracture, nerve entrapment, and popliteal artery entrapment syndrome are also considerations. Conservative management is the mainstay of care for the majority of causes of chronic lower leg pain; however, surgical intervention may be necessary. Conclusion: Chronic lower extremity pain in athletes includes a wide differential and can pose diagnostic dilemmas for clinicians. PMID:23016078
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Ciardo, Diana E; Lucke, Katja; Imhof, Alex; Bloemberg, Guido V; Böttger, Erik C
2010-08-01
The implementation of internal transcribed spacer (ITS) sequencing for routine identification of molds in the diagnostic mycology laboratory was analyzed in a 5-year study. All mold isolates (n = 6,900) recovered in our laboratory from 2005 to 2009 were included in this study. According to a defined work flow, which in addition to troublesome phenotypic identification takes clinical relevance into account, 233 isolates were subjected to ITS sequence analysis. Sequencing resulted in successful identification for 78.6% of the analyzed isolates (57.1% at species level, 21.5% at genus level). In comparison, extended in-depth phenotypic characterization of the isolates subjected to sequencing achieved taxonomic assignment for 47.6% of these, with a mere 13.3% at species level. Optimization of DNA extraction further improved the efficacy of molecular identification. This study is the first of its kind to testify to the systematic implementation of sequence-based identification procedures in the routine workup of mold isolates in the diagnostic mycology laboratory.
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Doehner, Wolfram; Blankenberg, Stefan; Erdmann, Erland; Ertl, Georg; Hasenfuß, Gerd; Landmesser, Ulf; Pieske, Burkert; Schieffer, Bernhard; Schunkert, Heribert; von Haehling, Stephan; Zeiher, Andreas; Anker, Stefan D
2017-05-01
Iron deficiency (ID) occurs in up to 50% of patients with heart failure (HF). Even without presence of anaemia ID contributes to more severe symptoms, increased hospitalization and mortality. A number of randomized controlled trials demonstrated the clinical benefit of replenishment of iron stores with improvement of symptoms and fewer hospitalizations. Assessment of iron status should therefore become routine assessment in newly diagnosed and in symptomatic patients with HF. ID can be identified with simple and straightforward diagnostic steps. Assessment of Ferritin (indicating iron stores) and transferrin saturation (TSAT, indication capability to mobilise internal iron stores) are sufficient to detect ID. In this review a plain diagnostic algorithm for ID is suggested. Confounding factors for diagnosis and adequate treatment of ID in HF are discussed. A regular workup for iron deficiency parameters may benefit patients with heart failure by providing symptomatic improvements and fewer hospitalizations. © Georg Thieme Verlag KG Stuttgart · New York.
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Robotically assisted ureteroscopy for kidney exploration
Talari, Hadi F.; Monfaredi, Reza; Wilson, Emmanuel; Blum, Emily; Bayne, Christopher; Peters, Craig; Zhang, Anlin; Cleary, Kevin
2018-01-01
Ureteroscopy is a minimally invasive procedure for diagnosis and treatment of a wide range of urinary tract pathologies. It is most commonly performed in the diagnostic work-up of hematuria and the diagnosis and treatment of upper urinary tract malignancies and calculi. Ergonomic and visualization challenges as well as radiation exposure are limitations to conventional ureteroscopy. For example, for diagnostic tumor inspection, the urologist has to maneuver the ureteroscope through each of the 6 to 12 calyces in the kidney under fluoroscopy to ensure complete surveillance. Therefore, we have been developing a robotic system to “power drive” a flexible fiber-optic ureteroscope with 3D tip tracking and pre-operative image overlay. Our goal is to provide the urologist precise control of the ureteroscope tip with less radiation exposure. Our prototype system allows control of the three degrees of freedom of the ureteroscope via brushless motors and a joystick interface. The robot provides a steady platform for controlling the ureteroscope. Furthermore, the robot design facilitates a quick “snap-in” of the ureteroscope, thus allowing the ureteroscope to be mounted midway through the procedure. We have completed the mechanical system and the controlling software and begun evaluation using a kidney phantom. We put MRI-compatible fiducials on the phantom and obtained MR images. We registered these images with the robot using an electromagnetic tracking system and paired-point registration. The system is described and initial evaluation results are given in this paper. PMID:29731536
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A diagnostic and therapeutic scheme for a solitary cysticercus granuloma.
Singh, G; Rajshekhar, V; Murthy, J M K; Prabhakar, S; Modi, M; Khandelwal, N; Garcia, H H
2010-12-14
Solitary cysticercus granuloma (SCG) is one of the most common forms of presentation of neurocysticercosis (NCC). The diagnostic workup and management approach to this condition remain uncertain and controversial. To review evidence and develop a consensus approach to the diagnosis and treatment of SCG. A multidisciplinary expert group meeting was convened in order to review and discuss various aspects of management of patients with SCG. Evidence reviewed was classified and a consensus was evolved according to standard protocols. SCG is commonly recognized on CT as an enhancing lesion measuring <20 mm. Further evaluation with MRI does not add much information. The use of antihelminthic agents (specifically, albendazole in combination with corticosteroids) and corticosteroids alone have been shown to improve radiologic resolution and seizure outcome in patients with SCG. However, the sizes of the effects are modest. By convention, all patients with SCG presenting with seizures are initiated on antiepileptic drugs (AEDs). Available evidence suggests that withdrawal of AEDs after complete resolution of the SCG is safe. There is a high risk of seizure relapse after AED withdrawal in patients with calcific residue following resolution of the SCG. The duration of AED prophylaxis in these individuals is unclear. It is desirable to have large, multicenter trials with sufficiently long follow-up, comparing outcomes with the use of antihelminthics with or without corticosteroids and corticosteroids alone in order to dissect out the benefits accrued due to each of these classes of drugs.
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Telehealth: current practices and future directions
NASA Astrophysics Data System (ADS)
David, Yadin B.
1996-02-01
When we review the positive impact that the integration of ostensibly independent patient-care services have on the efficient management of quality care, education, and collaborative research, it is not surprising that telehealth deployment is on the rise. The forces that drive this phenomenon include: the need to manage the entire disease episode; the desire for wider geographically-distributed quality health care; the escalation of customer expectations; globalization of healthcare and its support services; an increase in patient and provider convenience; and the acceptance of the present technological community. At the Telehealth Center at the Texas Children's Hospital, current classifications of clinical applications are listed: (1) initial urgent evaluation of patients, (2) triage decisions and pretransfer arrangements, (3) medical and surgical follow-up and medication review, (4) consultation for primary care encounters, (5) real-time subspecialty care consultation and planning, (6) management of chronic diseases and conditions, (7) extended diagnostic work-ups, (8) review of diagnostic images, and (9) preventive medicine and patient education. The delivery of such services is associated with challenges and opportunities. As we move forward from limited data processing to an integrated communication system, from centralized main frame functions to personalized and location-independent workstations, and from hospitals to clinics and homecare, an increase in the minimum features provided by the equipment and the communication systems must accompany the widening variety of clinical applications. Future expansion of telehealth systems stands to revolutionize the delivery of services to the benefits of providers' networks, our economy, and patients through integration.
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Nison, L; Bozzini, G; Rouprêt, M; Traxer, O; Colin, P
2014-11-01
To propose a state-of-the art of current knowledge about clinical, ureteroscopic and photodynamic for the diagnosis of the upper urinary tract cancer (UTUC). A systematic review of the literature search was performed from the database Medline (NLM, Pubmed), focused on the following keywords: urothelial carcinomas; upper urinary tract; ureter; renal pelvis; diagnosis; fluorescence; ureteroscopy; photodynamic technique; biopsy; cytology. Gross hematuria and flank pain are the two main clinical symptoms revealing a UTUC in daily clinical practice. Urinary cystoscopy and cystoscopy are mandatory to rule out a concomittant synchronous bladder tumour. Flexible ureteroscopy has revolutionized the management of UTUC by allowing a full exploration of upper urinary tract, an endoscopi vizualization of the tumour and assessment of grade with biopsies. A flexible ureteroscopy is mandatory in diagnostic evaluation of UTUC as soon as a conservative management is being considered. New investigation technologies such as fluorescence, narrow band imaging and optical coherence tomography (± combined with ultra sound), are promising for a near future. It has to be understood that the diagnostic work-up of a UTUC has to be exhaustive and particularly the search of another urothelial carcinoma within the urinary tract. Flexible ureterosocopy has revolutionized the diagnosis and management of UTUC and belongs fully to its initial evaluation. Copyright © 2014 Elsevier Masson SAS. All rights reserved.
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Gruber, R; Jaromi, S; Rudas, M; Pfarl, G; Riedl, C C; Flöry, D; Graf, O; Sickles, E A; Helbich, T H
2013-03-01
To determine the accuracy of a probably benign assessment of non-palpable breast lesions (BI-RADS category 3) at mammography and/or ultrasound with immediate histological work-up. Stereotactic or ultrasound guided core needle breast biopsy (NBB) was performed to evaluate 288 lesions, which were prospectively assessed as BI-RADS category 3. Imaging findings included 195 masses, 73 calcification cases, 16 focal asymmetries, and four architectural distortion cases. After NBB, patients underwent either open surgical biopsy (OSB) (n=204) or mammographic follow-up (n=84) for at least 24 months. Histological results of NBB were compared with those of OSB. Three of the 288 lesions (1.0%) proved to be malignant at histological work-up, two of them were ductal carcinoma in situ (DCIS) and one of them was an invasive carcinoma. NBB revealed invasive carcinoma in 1/288 (0.35%) and atypical ductal hyperplasia (ADH) in 13/288 (4.5%) lesions. OSB revealed DCIS in 2/204 (1%) and invasive carcinoma in 1/204 (0.5%) lesions. The two DCIS were underestimated as ADH by NBB. The remaining 285 (99%) lesions proved to be benign at OSB or remained stable during follow-up. Confirmed by tissue diagnosis, the low likelihood of malignancy of prospectively assessed probably benign lesions is below the 2% threshold established for BI-RADS category 3. Imaging follow-up is a safe and effective alternative to immediate histological work-up for such lesions. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.
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Cunha, Burke A; Jimada, Ismail
2018-01-01
Fever of unknown origin (FUO) refers to fevers of ≥101° F that persist for ≥3 weeks and remain undiagnosed after a focused inpatient or outpatient workup. FUO may be due to infectious, malignant/neoplastic, rheumatic/inflammatory, or miscellaneous disorders. Recurrent FUOs are due to the same causes of classical FUOs. Recurrent FUOs may have continuous or intermittent fevers and are particularly difficult to diagnose. With intermittent fever, recurrent FUO diagnostic tests are best obtained during fever episodes. With recurrent FUOs, the periodicity of febrile episodes is unpredictable. We present a case of a 70-year-old male who presented with recurrent FUO. Multiple extensive FUO workups failed to determine the source of his fever. During his last two episodes of fever/chills, blood cultures were positive for Enterobacter cloacae. Episodic E. cloacae bacteremias suggested a device-related infection, and the patient had a penile implant and permanent pacemaker (PPM). Following febrile episodes, he was treated with multiple courses of appropriate antibiotics, but subsequently fever/chills recurred. Since a device-associated infection was suspected, indium and PET scans were done, but were negative. The source of his intermittent E. cloacae bacteremias was finally demonstrated by gallium scan showing enhanced uptake on a cardiac lead, but not the penile implant or PPM. Gallium scanning remains useful in workup of FUOs, particularly when false-negative indium or PET scans are suspected. The involved pacemaker lead was explanted, grew E. cloacae and the patient has since remained fever free.
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FDG PET detection of unknown primary tumors.
Bohuslavizki, K H; Klutmann, S; Kröger, S; Sonnemann, U; Buchert, R; Werner, J A; Mester, J; Clausen, M
2000-05-01
The management of patients presenting with metastases of unknown primary origin remains a clinical challenge despite a large variety of imaging modalities. The aim of this study was to evaluate FDG PET in detecting the sites of primary cancer in these patients. Fifty-three patients with metastatic cervical adenopathy (n = 44) or extracervical metastases (n = 9) of unknown primary origin were included after extensive but inconclusive conventional diagnostic work-up. Patients received 370 MBq FDG (10 mCi) intravenously, and whole-body images were acquired at 60 min after injection. Clinical, surgical, and histopathologic findings and complete correlative imaging were used to assess the results. In 27 of 53 patients FDG PET showed focal tracer accumulations corresponding to potential primary tumor sites located in the lungs (n = 12), the palatine tonsil (n = 5), the salivary glands (n = 2), the nasopharynx (n = 1), the oropharynx (n = 3), the maxillary sinus (n = 1), and the larynx (n = 1). Moreover, in 2 patients FDG PET revealed lesions suspected to be tumors in the breast and the ileocolonic area. In 20 (37.8%) of these 53 patients FDG PET was true-positive, identifying the primary tumor in the lungs (n = 10), the head and neck region (n = 8), the breast (n = 1), and the ileocolonic area (n = 1). In 6 of 27 patients FDG PET was false-positive, predominantly identifying suspicious areas in the palatine tonsil (n = 3). One patient denied further diagnostic work-up after PET; thus, positive PET could not be evaluated. In 26 of 53 patients PET did not reveal lesions suspected to be the primary. However, primary tumors were not found in these patients at clinical follow-up. FDG PET is a valuable diagnostic tool in patients with cancer of unknown primary because it imaged unknown primary tumors in about one third of all patients investigated. In addition, FDG PET assists in both guiding biopsies for histologic evaluation and selecting the appropriate treatment protocols for these patients.
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Abraham-Nordling, Mirna; Öistämö, Emma; Josephson, Thomas; Hjern, Fredrik; Blomqvist, Lennart
2017-11-01
Background Computed tomography (CT) is used routinely for the preoperative detection of colorectal cancer (CRC) metastases. When small indeterminate focal liver lesions are detected that are too small to characterize (TSTC) on CT, additional imaging is usually needed, resulting in a potential delay in obtaining a complete diagnostic work-up. Purpose To determine the diagnostic accuracy of ultrasound (US) of the liver performed in direct conjunction to CT in the preoperative investigation among patients with newly diagnosed CRC when indeterminate liver lesions were found on CT. Material and Methods Preoperative investigations with CT and consecutive US where CT had shown at least one focal liver lesion in 74 patients diagnosed with CRC between June 2009 and February 2012 were retrospectively reviewed. Either histopathological findings or a combination of imaging and clinical follow-up one to three years after surgery was used as the reference. Results Liver metastases were diagnosed with CT/US in 13 out of 74 patients (17.6%). In one patient, a liver cyst was preoperatively regarded as liver metastasis by a combined CT/US. The sensitivity and specificity for the CT with consecutive US procedure was 100% (13/13) and 98.4% (60/61). Conclusion US performed in conjunction with CT in patients with indeterminate focal liver lesions on CT is an accurate work-up for detection of liver metastases in patients with newly diagnosed CRC. Although our results are promising, they cannot be considered safely generalizable to all hospitals.
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Powers, Sarah E; Uliassi, Nicole W; Sullivan, Shannon D; Tuchman, Lisa K; Mehra, Rinku; Gomez-Lobo, Veronica
2015-02-01
The purpose of this study is to identify trends in the clinical workup, diagnosis, and treatment of polycystic ovary syndrome by pediatric endocrinologists, pediatric gynecologists, and adolescent medicine specialists. Retrospective chart review. Tertiary care medical center. Females aged 11-18 y who were evaluated for PCOS from June 2009 to October 2011 were included. Any patients with coexisting diagnoses of other primary etiology for amenorrhea were excluded. Patients were identified by ICD-9 codes for PCOS, hypersecretion of ovarian androgens, irregular menses, hirsutism, oligomenorrhea, or amenorrhea. 261 patients were included: 144 from endocrinology, 9 from gynecology, and 108 from adolescent pediatric practices. There were no significant differences in the androgen labs ordered by the subspecialties. Gynecologists ordered pelvic ultrasonography for 89% (n = 8) of patients, compared to 9% (n = 10) by adolescent medicine specialists and 24% (n = 34) by endocrinologists (P < .0001). Endocrinologists were most likely to treat patients who met diagnostic criteria for PCOS with metformin (58%, n = 66), compared to gynecologists (14%, n = 1) and adolescent medicine specialists (5%, n = 3) (P < .0001). Gynecologists (43%, n = 3) and adolescent medicine specialists (58%, n = 39) were more likely than endocrinologists (24%, n = 27) to treat patients with oral contraceptive pills (P < .0001). Inconsistent diagnosis and treatment strategies for young women with PCOS are evident among pediatric subspecialties, reflecting lack of standardized care for adolescents. Quantifying outcomes based on diagnostic and therapeutic approaches are important next steps. Copyright © 2015 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.
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Preparticipation evaluation of novice, middle-age, long-distance runners.
Aagaard, Philip; Sahlén, Anders; Bergfeldt, Lennart; Braunschweig, Frieder
2013-01-01
The purpose of this study was to assess the cardiovascular health and risk profile in middle-age men making an entry to participate for their first time in a long-distance race. Male first-time participants, 45 yr and older, in the world's largest cross-country running race, the Lidingöloppet, were evaluated with a medical history and physical examination, European systematic coronary risk evaluation (SCORE), 12-lead ECG, echocardiography, and blood tests. Further diagnostic workup was performed when clinically indicated. Of 265 eligible runners, 153 (58%, age 51 ± 5 yr) completed the study. Although the 10-yr fatal cardiovascular event risk was low (SCORE, 1%; interquartile range, 0%-1%), mild abnormalities were common, for example, elevated blood pressure (19%), left ventricular hypertrophy (6%), and elevated LDL cholesterol (5%). ECG changes compatible with the "athlete's heart" were present in 82%, for example, sinus bradycardia (61%) and/or early repolarization (32%). ECG changes considered training unrelated were found in 24%, for example, prolonged QTc-interval (13%), left axis deviation (5.3%), and left atrial enlargement (4%). In 14 runners (9%), additional diagnostic workup was clinically motivated, and 4 runners (2%) were ultimately discouraged from vigorous exercise because of QTc intervals >500 ms (n = 2), symptomatic atrioventricular block (n = 1), and cardiac tumor (n = 1). The physician examination and the ECG identified 12 of the 14 participants requiring further evaluation. Cardiovascular evaluation of middle-age men, including a physician examination and a 12-lead ECG, appears useful to identify individuals requiring further testing before vigorous exercise. The additional yield of routine echocardiography was small.
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García-Criado, Angeles; Gilabert, Rosa; Bianchi, Luis; Vilana, Ramón; Burrel, Marta; Barrufet, Marta; Oliveira, Rafael; García-Valdecasas, Juan Carlos; Brú, Concepción
2015-01-01
To assess the value of contrast-enhanced ultrasound (CEUS) in the absence of hepatic artery signal on Doppler ultrasound (DUS) in the immediate postoperative period after liver transplant. This prospective study included 675 consecutive liver transplants. Patients without hepatic artery signal by DUS within 8 days post-transplant were studied with CEUS. If it remained undetectable, a thrombosis was suspected. In patent hepatic artery, a DUS was performed immediately after CEUS; if low resistance flow was detected, an arteriography was indicated. Patients with high resistance waveform underwent DUS+/CEUS follow-up. Arteriography was indicated when abnormal flow persisted for more than 5 days or liver dysfunction appeared. Thirty-four patients were studied with CEUS. In 11 patients CEUS correctly diagnosed hepatic artery thrombosis. In two out of 23 non-occluded arteries, a low resistance flow lead to a diagnosis of stenosis/proximal thrombosis. Twenty-one patients had absence of diastolic flow, which normalized in the follow-up in 13 patients. In the remaining eight patients, splenic artery steal syndrome (ASS) was diagnosed. CEUS allows us to avoid invasive tests in the diagnostic work-up shortly after liver transplant. It identifies the hepatic artery thrombosis and points to a diagnosis of ASS. • CEUS is useful in the diagnostic work-up shortly after liver transplant • CEUS identifies the hepatic artery thrombosis with reliability • There is little information about DUS and CEUS findings in the ASS • DUS and CEUS offer functional information useful in the diagnosis of ASS.
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Diagnosis and management of acute appendicitis. EAES consensus development conference 2015.
Gorter, Ramon R; Eker, Hasan H; Gorter-Stam, Marguerite A W; Abis, Gabor S A; Acharya, Amish; Ankersmit, Marjolein; Antoniou, Stavros A; Arolfo, Simone; Babic, Benjamin; Boni, Luigi; Bruntink, Marlieke; van Dam, Dieuwertje A; Defoort, Barbara; Deijen, Charlotte L; DeLacy, F Borja; Go, Peter Mnyh; Harmsen, Annelieke M K; van den Helder, Rick S; Iordache, Florin; Ket, Johannes C F; Muysoms, Filip E; Ozmen, M Mahir; Papoulas, Michail; Rhodes, Michael; Straatman, Jennifer; Tenhagen, Mark; Turrado, Victor; Vereczkei, Andras; Vilallonga, Ramon; Deelder, Jort D; Bonjer, Jaap
2016-11-01
Unequivocal international guidelines regarding the diagnosis and management of patients with acute appendicitis are lacking. The aim of the consensus meeting 2015 of the EAES was to generate a European guideline based on best available evidence and expert opinions of a panel of EAES members. After a systematic review of the literature by an international group of surgical research fellows, an expert panel with extensive clinical experience in the management of appendicitis discussed statements and recommendations. Statements and recommendations with more than 70 % agreement by the experts were selected for a web survey and the consensus meeting of the EAES in Bucharest in June 2015. EAES members and attendees at the EAES meeting in Bucharest could vote on these statements and recommendations. In the case of more than 70 % agreement, the statement or recommendation was defined as supported by the scientific community. Results from both the web survey and the consensus meeting in Bucharest are presented as percentages. In total, 46 statements and recommendations were selected for the web survey and consensus meeting. More than 232 members and attendees voted on them. In 41 of 46 statements and recommendations, more than 70 % agreement was reached. All 46 statements and recommendations are presented in this paper. They comprise topics regarding the diagnostic work-up, treatment indications, procedural aspects and post-operative care. The consensus meeting produced 46 statements and recommendations on the diagnostic work-up and management of appendicitis. The majority of the EAES members supported these statements. These consensus proceedings provide additional guidance to surgeons and surgical residents providing care to patients with appendicitis.
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McLaughlin, Vallerie V; Langer, Anatoly; Tan, Mary; Clements, Philip J; Oudiz, Ronald J; Tapson, Victor F; Channick, Richard N; Rubin, Lewis J
2013-02-01
The Pulmonary Arterial Hypertension-Quality Enhancement Research Initiative (PAHQuERI) was created to help clinicians to implement a guidelines-based approach to the diagnosis and management of pulmonary arterial hypertension (PAH). Patients with PAH represent a heterogeneous population, and physician evaluation and treatment paradigms may vary considerably. Using an electronic data management system, participating physicians recorded data on diagnostic workup, disease management, and outcomes of patients with PAH. Queries were generated automatically following each follow-up visit if the tests recommended by the American College of Chest Physicians (ACCP) were not performed at least once. Of 791 patients enrolled in PAH-QuERI, 77% were women; 64% received a diagnosis . 3 months prior to enrollment; 9% were in New York Heart Association functional class I, 39% in II, 48% in III, and 5% in IV; and the median age was 55 years (interquartile range, 45-66 years). At enrollment, all ACCP-recommended tests had been performed in only 6% of patients. The automated program generated 1,530 reminders for 642 patients (81%) with validated enrollment data. The proportion of recommended tests performed was 91% for CBC count, 91% for liver function test, 50% for connective tissue disease screen, 29% for HIV screen, 88% for chest radiograph, 82% for ECG, 97% for two-dimensional echocardiogram, 83% for pulmonary function tests, 41% for oximetry, 57% for ventilation/perfusion scan, 79% for 6-min walk distance, and 90% for right-sided heart catheterization. Regarding management, 78% of patients were on disease specific therapy, and the use of these therapies tended to increase with the functional disability of the patient. One hundred seventy patients were taking calcium channel blockers, 91 specifically for PAH. Only six of 91 patients (7%) who received calcium channel blockers specifically for PAH had met the current guideline for acute vasoreactivity. When comparing reported clinical practice with ACCP guidelines-recommended strategies, a diagnostic care gap is apparent such that certain essential and recommended diagnostic tests may be underused despite the availability of detailed guidelines and reminders.
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ERIC Educational Resources Information Center
Hill, George B.; Sweeney, Joseph B.
2015-01-01
Reaction workup can be a complex problem for those facing novel synthesis of difficult compounds for the first time. Workup problem solving by systematic thinking should be inculcated as mid-graduate-level is reached. A structured approach is proposed, building decision tree flowcharts to analyze challenges, and an exemplar flowchart is presented…
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Intractable Pruritus After Traumatic Spinal Cord Injury
Crane, Deborah A; Jaffee, Kenneth M; Kundu, Anjana
2009-01-01
Background: This report describes a young woman with incomplete traumatic cervical spinal cord injury and intractable pruritus involving her dorsal forearm. Method: Case report. Findings: Anatomic distribution of the pruritus corresponded to the dermatomal distribution of her level of spinal cord injury and vertebral fusion. Symptoms were attributed to the spinal cord injury and possible cervical root injury. Pruritus was refractory to all treatments, including topical lidocaine, gabapentin, transcutaneous electrical nerve stimulation, intravenous Bier block, stellate ganglion block, and acupuncture. Conclusions: Further understanding of neuropathic pruritus is needed. Diagnostic workup of intractable pruritus should include advanced imaging to detect ongoing nerve root compression. If diagnostic studies suggest radiculopathy, epidural steroid injection should be considered. Because the autonomic nervous system may be involved in complex chronic pain or pruritic syndromes, sympatholysis via such techniques as stellate ganglion block might be effective. PMID:19777867
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Gutman, Colleen K; Middlebrooks, Lauren S; Zmitrovich, April; Camacho-Gonzalez, Andres; Morris, Claudia R
2018-06-05
Across the United States (US), rates of new human immunodeficiency virus (HIV) diagnosis have declined 1 . Despite this, adolescents have experienced increases in HIV diagnosis rates 1,2 . It is estimated that half of adolescents are unaware of their diagnosis 1,3 and that, on average, they are infected with HIV for nearly 3 years prior to diagnosis 2 . The Centers for Disease Control and Prevention (CDC) recommends routine universal HIV screening for everyone over age 13 in healthcare settings. These recommendations have not been widely implemented in pediatrics 4,5 , where HIV testing is often offered only to select high-risk populations or as part of a diagnostic work-up. This article is protected by copyright. All rights reserved. This article is protected by copyright. All rights reserved.
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Diagnosis of non-osseous spinal metastatic disease: the role of PET/CT and PET/MRI.
Batouli, Ali; Braun, John; Singh, Kamal; Gholamrezanezhad, Ali; Casagranda, Bethany U; Alavi, Abass
2018-06-01
The spine is the third most common site for distant metastasis in cancer patients with approximately 70% of patients with metastatic cancer having spinal involvement. Positron emission tomography (PET), combined with computed tomography (CT) or magnetic resonance imaging (MRI), has been deeply integrated in modern clinical oncology as a pivotal component of the diagnostic work-up of patients with cancer. PET is able to diagnose several neoplastic processes before any detectable morphological changes can be identified by anatomic imaging modalities alone. In this review, we discuss the role of PET/CT and PET/MRI in the diagnostic management of non-osseous metastatic disease of the spinal canal. While sometimes subtle, recognizing such disease on FDG PET/CT and PET/MRI imaging done routinely in cancer patients can guide treatment strategies to potentially prevent irreversible neurological damage.
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Plass, Lindsey M; McGee, Terrence G; Elliott, James M
2016-02-01
A 58-year-old man was referred to physical therapy with a primary complaint of intermittent low back pain (LBP) 2 weeks after being in a motor vehicle collision. The absence of red flags justified the initiation of treatment, but when symptoms of unrelenting LBP emerged, he was referred to his primary care physician with a request for further medical workup. Before further imaging work-up was performed, the patient presented to the emergency room with a urinary complaint; this, in combination with unrelenting LBP, prompted further imaging follow-up. Lumbar/thoracic spine magnetic resonance imaging revealed multiple compression fractures and diffuse bone marrow heterogeneity consistent with a malignant infiltrative marrow process. The patient underwent additional laboratory testing and a bone marrow aspirate and biopsy that confirmed the diagnosis of multiple myeloma.
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Cryptococcal meningitis in an immunocompetent child: a case report and literature review.
Othman, Norlijah; Abdullah, Nor Atiqah Ng; Wahab, Zubaidah Abdul
2004-12-01
An immunocompetent 5 year-old girl presented with pyrexia of unknown origin associated with headache. Initial investigations showed leukocytosis and an increased erythrocyte sedimentation rate. A Widal-Weil Felix test, blood film for malarial parasites, mycoplasma IgM antibody, cultures from blood and urine, full blood picture, Mantoux test, and chest x-ray were all negative. A lumbar puncture was done as part of a work-up for pyrexia of unknown origin. Cryptococcus neoformans was seen on India ink examination and confirmed on culture. She was treated with 10 weeks of intravenous amphotericin B and 8 weeks of fluconazole. Further immunological tests did not reveal any defect in the cell-mediated immune system. C. neoformans meningitis may present with non-specific symptoms and should be considered in a work-up for pyrexia of unknown origin.
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Córdoba, Marta; Rodriguez-Quiroga, Sergio Alejandro; Vega, Patricia Analía; Salinas, Valeria; Perez-Maturo, Josefina; Amartino, Hernán; Vásquez-Dusefante, Cecilia; Medina, Nancy; González-Morón, Dolores; Kauffman, Marcelo Andrés
2018-01-01
Diagnostic trajectories for neurogenetic disorders frequently require the use of considerable time and resources, exposing patients and families to so-called "diagnostic odysseys". Previous studies have provided strong evidence for increased diagnostic and clinical utility of whole-exome sequencing in medical genetics. However, specific reports assessing its utility in a setting such as ours- a neurogeneticist led academic group serving in a low-income country-are rare. To assess the diagnostic yield of WES in patients suspected of having a neurogenetic condition and explore the cost-effectiveness of its implementation in a research group located in an Argentinean public hospital. This is a prospective study of the clinical utility of WES in a series of 40 consecutive patients selected from a Neurogenetic Clinic of a tertiary Hospital in Argentina. We evaluated patients retrospectively for previous diagnostic trajectories. Diagnostic yield, clinical impact on management and economic diagnostic burden were evaluated. We demonstrated the clinical utility of Whole Exome Sequencing in our patient cohort, obtaining a diagnostic yield of 40% (95% CI, 24.8%-55.2%) among a diverse group of neurological disorders. The average age at the time of WES was 23 (range 3-70). The mean time elapsed from symptom onset to WES was 11 years (range 3-42). The mean cost of the diagnostic workup prior to WES was USD 1646 (USD 1439 to 1853), which is 60% higher than WES cost in our center. WES for neurogenetics proved to be an effective, cost- and time-saving approach for the molecular diagnosis of this heterogeneous and complex group of patients.
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Initial investigation into lower-cost CT for resource limited regions of the world
NASA Astrophysics Data System (ADS)
Dobbins, James T., III; Wells, Jered R.; Segars, W. Paul; Li, Christina M.; Kigongo, Christopher J. N.
2010-04-01
This paper describes an initial investigation into means for producing lower-cost CT scanners for resource limited regions of the world. In regions such as sub-Saharan Africa, intermediate level medical facilities serving millions have no CT machines, and lack the imaging resources necessary to determine whether certain patients would benefit from being transferred to a hospital in a larger city for further diagnostic workup or treatment. Low-cost CT scanners would potentially be of immense help to the healthcare system in such regions. Such scanners would not produce state-of-theart image quality, but rather would be intended primarily for triaging purposes to determine the patients who would benefit from transfer to larger hospitals. The lower-cost scanner investigated here consists of a fixed digital radiography system and a rotating patient stage. This paper describes initial experiments to determine if such a configuration is feasible. Experiments were conducted using (1) x-ray image acquisition, a physical anthropomorphic chest phantom, and a flat-panel detector system, and (2) a computer-simulated XCAT chest phantom. Both the physical phantom and simulated phantom produced excellent image quality reconstructions when the phantom was perfectly aligned during acquisition, but artifacts were noted when the phantom was displaced to simulate patient motion. An algorithm was developed to correct for motion of the phantom and demonstrated success in correcting for 5-mm motion during 360-degree acquisition of images. These experiments demonstrated feasibility for this approach, but additional work is required to determine the exact limitations produced by patient motion.
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The asymptomatic teenager with an abnormal electrocardiogram.
Singh, Harinder R
2014-02-01
Use of medications for attention-deficit hyperkinetic disorder and preparticipation sports physical examination has led to an increase in number of electrocardiograms (ECG) performed during adolescence. Interpreting ECGs in children and young adults must take into account the evolutionary changes with age and the benign variants, which are usually not associated with heart disease. It is crucial for primary-care providers to recognize the changes on ECG associated with heart disease and risk of sudden death. In this article, the significance, sensitivity, specificity, and the diagnostic workup of these findings in the asymptomatic teenager are discussed. Copyright © 2014 Elsevier Inc. All rights reserved.
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Giant hydatid liver cyst. Management of residual cavity.
Salemis, Nikolaos S
2008-01-01
The management of the residual cavity during surgical intervention for giant hydatid liver cysts is often a challenging problem. Herein, is described the case of a 55-year-old female patient who was diagnosed with a giant hydatid cyst occupying almost the entire left lobe of the liver. After partial cystectomy, the residual cavity was managed by combination of suture obliteration with omentoplasty. The patient had an uneventful postoperative course and was discharged eight days later. The clinical presentation, diagnostic work-up and surgical management of the patient are discussed, along with a review of the literature.
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Rib fracture following stereotactic body radiotherapy: a potential pitfall.
Stanic, Sinisa; Boike, Thomas P; Rule, William G; Timmerman, Robert D
2011-11-01
Although the incidence of rib fractures after conventional radiotherapy is generally low (<2%), rib fractures are a relatively common complication of stereotactic body radiotherapy. For malignancy adjacent to the chest wall, the incidence of rib fractures after stereotactic body radiotherapy is as high as 10%. Unrecognized bone fractures can mimic bone metastases on bone scintigraphy, can lead to extensive workup, and can even lead to consideration of unnecessary systemic chemotherapy, as treatment decisions can be based on imaging findings alone. Nuclear medicine physicians and diagnostic radiologists should always consider rib fracture in the differential diagnosis.
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[Clinical importance of thyroid gland cytology].
Ting, S; Synoracki, S; Bockisch, A; Führer, D; Schmid, K W
2015-11-01
The cytological evaluation of fine needle biopsies (FNB) of the thyroid gland crucially depends on a close cooperation between clinicians and cytopathologists. Scintigraphy, sonography as well as clinical data and patient history are necessary for a correct interpretation of the indications for FNB; moreover, these data are of outstanding importance for cytopathologists for the correct interpretation of the cytomorphological findings. This overview describes the present standards in the acquisition, technical workup and cytopathological interpretation of thyroid gland tissue obtained by FNB, particularly focusing on the rapidly growing relevance of additional molecular pathological investigations to increase the diagnostic accuracy of thyroid FNB.
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[Chronic demyelinating polyneuropathy and B6 hypervitaminosis].
Castagnet, S; Blasco, H; Vourc'h, P; Andres, C R; Praline, J
2010-12-01
We report a 62-year-old patient who presented with a several month history of a peripheral sensory neuropathy with ataxia that was attributed to a chronic immune demyelinating polyneuropathy but was resistant to corticosteroid therapy. Diagnostic workup finally showed a high serum level of pyridoxin related to a chronic intake of oral vitamin medication for several years. We discuss the link between the clinical and electrophysiological manifestations of the chronic polyneuropathy, based on similar reported observations in the literature. This observation highlights the possibility of important long-term deleterious effects of vitamin oral supplementations, particularly pyridoxin. Copyright © 2010. Published by Elsevier SAS.
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Kounis Syndrome During Anesthesia: Presentation of Indolent Systemic Mastocytosis: A Case Report.
de la Fuente Tornero, Elena; Vega Castro, Arantza; de Sierra Hernández, Pedro Álvarez; Balaguer Recena, Javier; Zaragoza Casares, Sofía Carmen; Serrano Baylin, Francisco Miguel; Gallardo Culebradas, Paloma; Amorós Alfonso, Beatriz; Rodríguez Fraile, Jose Ramón
2017-05-01
Mastocytosis comprises a heterogeneous group of disorders characterized by mast cell accumulation and proliferation in distinct organs. Kounis syndrome is defined as the concurrence of acute coronary syndromes with mast cell activation in a setting of allergic or hypersensitivity reactions. This is the first reported case of an intraoperative Kounis syndrome as the onset of an indolent systemic mastocytosis probably triggered by succinylated gelatin infusion during general anesthesia. The presentation of this case is intended to contribute to the knowledge of mastocytosis and Kounis syndrome at the time of diagnostic workup during intraoperative anaphylaxis or myocardial ischemia.
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Diagnosis and management of acute heart failure.
Ural, Dilek; Çavuşoğlu, Yüksel; Eren, Mehmet; Karaüzüm, Kurtuluş; Temizhan, Ahmet; Yılmaz, Mehmet Birhan; Zoghi, Mehdi; Ramassubu, Kumudha; Bozkurt, Biykem
2015-11-01
Acute heart failure (AHF) is a life threatening clinical syndrome with a progressively increasing incidence in general population. Turkey is a country with a high cardiovascular mortality and recent national statistics show that the population structure has turned to an 'aged' population.As a consequence, AHF has become one of the main reasons of admission to cardiology clinics. This consensus report summarizes clinical and prognostic classification of AHF, its worldwide and national epidemiology, diagnostic work-up, principles of approach in emergency department,intensive care unit and ward, treatment in different clinical scenarios and approach in special conditions and how to plan hospital discharge.
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Vital, Anne; Vital, Claude
2014-01-01
Simultaneous combined superficial peroneal nerve and peroneous brevis muscle biopsy, via the same cutaneous incision, allows examination of several tissue specimens and significantly improves the diagnosis of systemic diseases with peripheral nerve involvement. Vasculitides are certainly the most frequently diagnosed on neuro-muscular biopsies, but this procedure is also well advised to asses a diagnosis of sarcoidosis or amyloidosis. More occasionally, combined nerve and muscle biopsy may reveal an unpredicted diagnosis of cholesterol embolism, intra-vascular lymphoma, or enables complementary diagnosis investigations on mitochondrial cytopathy or storage disease.
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Image-guided interventional procedures in the dog and cat.
Vignoli, Massimo; Saunders, Jimmy H
2011-03-01
Medical imaging is essential for the diagnostic workup of many soft tissue and bone lesions in dogs and cats, but imaging modalities do not always allow the clinician to differentiate inflammatory or infectious conditions from neoplastic disorders. This review describes interventional procedures in dogs and cats for collection of samples for cytological or histopathological examinations under imaging guidance. It describes the indications and procedures for imaging-guided sampling, including ultrasound (US), computed tomography (CT), magnetic resonance imaging and fluoroscopy. US and CT are currently the modalities of choice in interventional imaging. Copyright © 2009 Elsevier Ltd. All rights reserved.
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Splenomegaly in the returning traveller: a diagnostic workup.
Patel, Priya Umesh; Sastry, Padmini; Jawad, Muhammad
2017-01-11
Isolated splenomegaly is an unusual condition encompassing a broad range of diagnoses. We report a case of a 38-year-old Asian man who presented with insidious abdominal discomfort and night sweats following recent travel to India. Massive splenomegaly was the only prominent feature on clinical examination and on subsequent imaging. Extensive investigations were performed, ultimately resulting in transfer to a tertiary centre for definitive diagnosis via a splenic biopsy. A fine-needle aspiration was performed, and revealed diffuse large B-cell lymphoma (DLBCL). Consequently, he was successfully treated with a course of chemotherapy. 2017 BMJ Publishing Group Ltd.
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Marras, Carlo Efisio; Canevini, Maria Paola; Colicchio, Gabriella; Guerrini, Renzo; Rubboli, Guido; Scerrati, Massimo; Spreafico, Roberto; Tassi, Laura; LoRusso, Giorgio; Tinuper, Paolo
2013-10-01
Epilepsy is a neurologic disorder with major social impact. Surgery is a valuable option in patients who are not responding to antiepileptic drugs. The literature reports demonstrate that a proportion ranging from 40 to 100% of patients with epilepsy achieve seizure remission after surgery. A presurgical evaluation (clinical and instrumental) must be performed in all patients with drug-resistant epilepsy to assess their suitability for surgical intervention. Health Technology Assessment (HTA) represents a modern approach to the analysis of technologies used for health care. HTA could be considered a bridge between science that produces evidence and the decisions that can be taken on the basis of that evidence at different levels of the health care system. The aim of this study is the HTA of epilepsy surgery including clinical, ethical, social, and economic features. The present study includes an analysis of the diagnostic and surgical workup performed at the Italian centers for the diagnosis and treatment of drug-resistant epilepsy (DRE). The study includes the following issues: (1) social, ethical impact, and costs of the disease; (2) clinical results, efficacy, and safety of surgery; (3) ethics and quality of life after surgery; and (4) economic impact and productivity regained after surgery. The cost of managing a patient with DRE included in the presurgical study was estimated by the bottom-up microcosting technique that starts from a detailed collection of data on consumption of resources and full costing. The phases analyzed were (1) noninvasive diagnostic workup; (2) neurosurgical intervention; and (3) follow-up. The literature reports indicate epilepsy surgery as an effective treatment both on clinical results and on ethical, social, and quality of life aspects. The workup including the noninvasive presurgical study followed by surgery has a total cost of €20,827. Management of short-term follow-up increases the overhead to €22,291 at the first year, and then to €23,571 after 5 years. According to the estimates made in this survey, funding based on diagnosis-related group (DRG) tariff for the noninvasive diagnostic stage involving hospital admission is not remunerative in Italy either at regional or national levels. Effectively the difference between full cost and DRG has a delta of €3,402 and €2,537 respectively. The total cost of the presurgical, surgical, and follow-up evaluation is not remunerative for €10,554 (national data). Economic surveys in Italy have shown that surgery for DRE is an advantageous treatment from the standpoint of third-party payers and is cost-effective for society. DRE presurgical evaluation and surgery are not remunerative either at regional or national levels. Wiley Periodicals, Inc. © 2013 International League Against Epilepsy.
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Gastrointestinal manifestations of mitochondrial disorders: a systematic review
Finsterer, Josef; Frank, Marlies
2016-01-01
Mitochondrial disorders (MIDs) due to respiratory-chain defects or nonrespiratory chain defects are usually multisystem conditions [mitochondrial multiorgan disorder syndrome (MIMODS)] affecting the central nervous system (CNS), peripheral nervous system, eyes, ears, endocrine organs, heart, kidneys, bone marrow, lungs, arteries, and also the intestinal tract. Frequent gastrointestinal (GI) manifestations of MIDs include poor appetite, gastroesophageal sphincter dysfunction, constipation, dysphagia, vomiting, gastroparesis, GI pseudo-obstruction, diarrhea, or pancreatitis and hepatopathy. Rare GI manifestations of MIDs include dry mouth, paradontosis, tracheoesophageal fistula, stenosis of the duodeno-jejunal junction, atresia or imperforate anus, liver cysts, pancreas lipomatosis, pancreatic cysts, congenital stenosis or obstruction of the GI tract, recurrent bowel perforations with intra-abdominal abscesses, postprandial abdominal pain, diverticulosis, or pneumatosis coli. Diagnosing GI involvement in MIDs is not at variance from diagnosing GI disorders due to other causes. Treatment of mitochondrial GI disease includes noninvasive or invasive measures. Therapy is usually symptomatic. Only for myo-neuro-gastro-intestinal encephalopathy is a causal therapy with autologous stem-cell transplantation available. It is concluded that GI manifestations of MIDs are more widespread than so far anticipated and that they must be recognized as early as possible to initiate appropriate diagnostic work-up and avoid any mitochondrion-toxic treatment. PMID:28286566
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Hyperprolinemia in Type 2 Glutaric Aciduria and MADD-Like Profiles.
Pontoizeau, Clément; Habarou, Florence; Brassier, Anaïs; Veauville-Merllié, Alice; Grisel, Coraline; Arnoux, Jean-Baptiste; Vianey-Saban, Christine; Barouki, Robert; Chadefaux-Vekemans, Bernadette; Acquaviva, Cécile; de Lonlay, Pascale; Ottolenghi, Chris
2016-01-01
Classical neonatal-onset glutaric aciduria type 2 (MAD deficiency) is a severe disorder of mitochondrial fatty acid oxidation associated with poor survival. Secondary dysfunction of acyl-CoA dehydrogenases may result from deficiency for riboflavin transporters, leading to severe disorders that, nevertheless, are treatable by riboflavin supplementation. In the last 10 years, we identified nine newborns with biochemical features consistent with MAD deficiency, only four of whom survived past the neonatal period. A likely iatrogenic cause of riboflavin deficiency was found in two premature newborns having parenteral nutrition, one of whom recovered upon multivitamin supplementation, whereas the other died before diagnosis. Four other patients had demonstrated mutations involving ETF or ETF-DH flavoproteins, whereas the remaining three patients presumably had secondary deficiencies of unknown mechanism. Interestingly, six newborns among the seven tested for plasma amino acids had pronounced hyperprolinemia. In one case, because the initial diagnostic workup did not include organic acids and acylcarnitine profiling, clinical presentation and hyperprolinemia suggested the diagnosis. Analysis of our full cohort of >50,000 samples from >30,000 patients suggests that the proline/alanine ratio may be a good marker of MAD deficiency and could contribute to a more effective management of the treatable forms.
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[Bell's palsy and facial pain associated with toxocara infection].
Bachtiar, Arian; Auer, Herbert; Finsterer, Josef
2012-10-01
Toxocarosis involving cranial nerves is extremely rare and almost exclusively concerns the optic nerve. Toxocarosis involving the seventh cranial nerve has not been reported. A 33y male developed left-sided Bell's palsy two days after left-sided otalgia 6y before. Despite extensive diagnostic work-up at that time the cause of Bell's palsy remained unknown. During the following years Bell's palsy slightly improved but retromandibular pain remained almost unchanged and he developed enlarged lymph nodes along the jugular veins, submandibularly, and in the trigonum caroticum. Re-evaluation 6y later revealed an increased titer of serum antibodies against Toxocara canis and a positive Westernblot for Toxocara canis ES-antigen. Despite absent eosinophilia in the serum, toxocarosis was diagnosed and a therapy with albendazole initiated, with benefit for retromandibular pain, but hardly for Bell's palsy or enlarged lymph nodes. CSF investigations after albendazole revealed a positive Westernblot for antibodies against toxocara but absent pleocytosis or eosinophilia, and negative PCR for Toxocara canis. Visceral larva migrans due to Toxocara canis may be associated with Bell's palsy, retromandibular pain, and lymphadenopathy. A causal relation between Bell's palsy and the helminthosis remains speculative. Adequate therapy years after onset of the infestation may be of limited benefit.
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CE: critical care recovery center: an innovative collaborative care model for ICU survivors.
Khan, Babar A; Lasiter, Sue; Boustani, Malaz A
2015-03-01
Five million Americans require admission to ICUs annually owing to life-threatening illnesses. Recent medical advances have resulted in higher survival rates for critically ill patients, who often have significant cognitive, physical, and psychological sequelae, known as postintensive care syndrome (PICS). This growing population threatens to overwhelm the current U.S. health care system, which lacks established clinical models for managing their care. Novel innovative models are urgently needed. To this end, the pulmonary/critical care and geriatrics divisions at the Indiana University School of Medicine joined forces to develop and implement a collaborative care model, the Critical Care Recovery Center (CCRC). Its mission is to maximize the cognitive, physical, and psychological recovery of ICU survivors. Developed around the principles of implementation and complexity science, the CCRC opened in 2011 as a clinical center with a secondary research focus. Care is provided through a pre-CCRC patient and caregiver needs assessment, an initial diagnostic workup visit, and a follow-up visit that includes a family conference. With its sole focus on the prevention and treatment of PICS, the CCRC represents an innovative prototype aimed at modifying post-critical illness morbidities and improving the ICU survivor's quality of life.
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Rhabdomyolysis-Associated Acute Kidney Injury With Normal Creatine Phosphokinase.
Kamal, Faisal; Snook, Lindsay; Saikumar, Jagannath H
2018-01-01
Rhabdomyolysis is a syndrome characterized by the breakdown of skeletal muscle and leakage of intracellular myocyte contents, such as creatine phosphokinase (CPK) and myoglobin, into the interstitial space and plasma resulting in acute kidney injury (AKI). Elevated CPK of at least 5 times the upper limit of normal is an important diagnostic marker of Rhabdomyolysis. We present a case of rhabdomyolysis with severe AKI with a normal CPK at presentation. A 32-year-old man presented with acute respiratory failure and AKI after an overdose of recreational drugs. Urinalysis at presentation showed trace amounts of blood, identified as rare red blood cells under microscopy. CPK was 156 U/L at presentation. Workup for glomerulonephritis and vasculitis was negative. He was initiated on renal replacement therapy, and a kidney biopsy showed severe acute tubular injury with positive myoglobin casts. Supportive management and renal replacement therapy was provided, and renal function spontaneously improved after a few weeks. This is an uncommon clinical presentation of severe rhabdomyolysis complicated by AKI. This suggests that CPK alone may not be a sensitive marker for rhabdomyolysis-induced AKI in some cases. Copyright © 2018 Southern Society for Clinical Investigation. Published by Elsevier Inc. All rights reserved.
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Does education modify motor compensation in Parkinson's disease?
Sunwoo, Mun K; Hong, Jin Yong; Lee, Jae J; Lee, Phil H; Sohn, Young H
2016-03-15
In Alzheimer's disease, higher educational attainment is associated with fewer cognitive deficits despite similar pathological lesions. In animal models of Parkinson's disease (PD), enhanced levels of cognitive and physical stimulation can reduce motor deficits due to dopaminergic neuronal loss. Therefore, in this study, we tested whether higher educational attainment has a beneficial influence on PD motor symptoms. We included data from 182 patients with de novo PD without dementia, who underwent dopamine transporter (DAT) scans for an initial diagnostic work-up. Patients were divided into 2 groups according to their educational attainment; high education (HE-PD; ≥12years of education) and low education (LE-PD; <12years of education). The HE-PD group exhibited significantly higher mini-mental state exam scores, fewer motor deficits, and lower DAT binding to the posterior putamen than the LE-PD group, despite a similar duration of PD symptoms. A general linear model revealed that this difference in motor deficits remained statistically significant after controlling for potential confounding factors (p=0.032). These results suggest that higher educational attainment can lead to reduced motor deficits in PD despite greater reductions in dopamine levels. Copyright © 2016 Elsevier B.V. All rights reserved.
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The role of IQSEC2 in syndromic intellectual disability: Narrowing the diagnostic odyssey.
Helm, Benjamin M; Powis, Zoe; Prada, Carlos E; Casasbuenas-Alarcon, Olga L; Balmakund, Tonya; Schaefer, G B; Kahler, Stephen G; Kaylor, Julie; Winter, Susan; Zarate, Yuri A; Schrier Vergano, Samantha A
2017-10-01
While X-linked intellectual disability (XLID) syndromes pose a diagnostic challenge for clinicians, an increasing number of recognized disorders and their genetic etiologies are providing answers for patients and their families. The availability of clinical exome sequencing is broadening the ability to identify mutations in genes previously unrecognized as causing XLID. In recent years, the IQSEC2 gene, located at Xp11.22, has emerged as the cause of multiple cases of both nonsyndromic and syndromic XLID. Herein we present a case series of six individuals (five males, one female) with intellectual disability and seizures found to have alterations in IQSEC2. In all cases, the diagnostic odyssey was extensive and expensive, often including invasive testing such as muscle biopsies, before ultimately reaching the diagnosis. We report these cases to demonstrate the exhaustive work-up prior to finding the changes in IQSEC2 gene, recommend that this gene be considered earlier in the diagnostic evaluation of individuals with global developmental delay, microcephaly, and severe, intractable epilepsy, and support the use of intellectual disability panels including IQSEC2 in the first-line evaluation of these patients. © 2017 Wiley Periodicals, Inc.
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Thoracic radiography in the cat: Identification of cardiomegaly and congestive heart failure.
Guglielmini, Carlo; Diana, Alessia
2015-12-01
Thoracic radiography is one of the most commonly employed diagnostic tools for the clinical evaluation of cats with suspected heart disease and is the standard diagnostic method in the confirmation of cardiogenic pulmonary edema. In the past, interpretation of feline radiographs focused on a description of the qualitative radiographic features of feline heart disease or the measurement of the cardiac silhouette in healthy cats and cats with different cardiovascular disorders. More recently, studies have begun to critically address the issue of the diagnostic accuracy of thoracic radiography in the diagnostic work-up of cats with heart disease. In these studies, qualitative and quantitative radiographic parameters were compared to echocardiographic findings to evaluate the usefulness of thoracic radiography for the identification of cardiac enlargement and pulmonary edema in the cat. Thoracic radiography is reasonably specific but has a low sensitivity when identifying cardiomegaly in cats with mild structural heart disease. Feline cardiogenic pulmonary edema has a variable radiographic presentation and several specific radiographic findings (i.e., enlargement of the left atrium and the pulmonary veins) can be absent or non-recognizable in affected cats. Copyright © 2015 Elsevier B.V. All rights reserved.
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DOE Office of Scientific and Technical Information (OSTI.GOV)
Doerr, R.J.; Abdel-Nabi, H.; Merchant, B.
1990-02-01
We investigated the utility of scanning with indium 111 labeled to monoclonal antibody in 13 patients after curative resection of colorectal cancer who had elevated carcinoembryonic antigen levels and negative results of clinical workup. Each patient received 1 mg of anti-carcinoembryonic antigen monoclonal antibody type ZCE 025 labeled with 5.5 mCi of {sup 111}In, plus 9 to 39 mg of the same antibody unlabeled. Patients underwent scanning 3 to 7 days after infusion by planar and emission computed tomography. ZCE-025 monoclonal antibody imaging detected tumor recurrence or metastasis in 11 of 13 patients. In one patient the monoclonal antibody scanmore » gave a true-negative result, and in one patient the monoclonal antibody scan failed to disclose a metachronous cecal primary. Tumor sites identified were the pelvis (2 patients), abdominal wall (2), retroperitoneum (1), lymph nodes (3); liver (2), bone (2), and lung (1). The accurate localization of colorectal carcinoma recurrences by means of {sup 111}In ZCE-025 monoclonal antibody demonstrates the usefulness of this diagnostic agent in the setting of elevated carcinoembryonic antigen level and negative results of clinical and radiologic workup.« less
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Francischetti, Ivo M B; Cajigas, Antonio; Suhrland, Mark; Farinhas, Joaquim M; Khader, Samer
2017-08-01
We describe a case of a 41-year old male patient with no significant prior medical history who presents with symptoms of Transient Ischemic Attack and stroke. Magnetic Resonance Imaging (MRI) of the brain identified areas of ischemia in the left side, and angiography showed occlusion of the left Medial Cerebral Artery (MCA). Cardiac Transthoracic Echocardiogram (TTE) for stroke evaluation incidentally noted a mediastinal abnormality leading to cancer work-up. Computer Tomography (CT) and 18 F-fluorodeoxyglucose (FDG) PET-CT scan of the chest incidentally revealed an avid 6 cm paraesophagial/subcarinal mass. Further diagnostic work-up with endoscopic and endobronchial ultra sound (EBUS)-guided fine needle aspiration (FNA) of the mass yielded a cytology diagnosis of Germ Cell Tumor (GCT), with choriocarcinoma component. Additionally, high plasma levels of β-human chorionic gonadotrophin (β-HCG) were detected with no evidence of testicular tumor. This exceedingly rare presentation for a primary mediastinal choriocarcinoma underscores the importance of complete investigation of young patients presenting with neurological symptoms compatible with ischemic events. Diagn. Cytopathol. 2017;45:738-743. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.
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Aryaie, Amir H; Fayezizadeh, Mojtaba; Wen, Yuxiang; Alshehri, Mohammed; Abbas, Mujjahid; Khaitan, Leena
2017-09-01
"Candy cane" syndrome (a blind afferent Roux limb at the gastrojejunostomy) has been implicated as a cause of abdominal pain, nausea, and emesis after Roux-n-Y gastric bypass (RYGB) but remains poorly described. To report that "candy cane" syndrome is real and can be treated effectively with revisional bariatric surgery SETTING: All patients underwent "candy cane" resection at University Hospitals of Cleveland. All patients who underwent resection of the "candy cane" between January 2011 and July 2015 were included. All had preoperative workup to identify "candy cane" syndrome. Demographic data; pre-, peri-, and postoperative symptoms; data regarding hospitalization; and postoperative weight loss were assessed through retrospective chart review. Data were analyzed using Student's t test and χ 2 analysis where appropriate. Nineteen patients had resection of the "candy cane" (94% female, mean age 50±11 yr), within 3 to 11 years after initial RYGB. Primary presenting symptoms were epigastric abdominal pain (68%) and nausea/vomiting (32%), particularly with fibrous foods and meats. On upper gastrointestinal study and endoscopy, the afferent blind limb was the most direct outlet from the gastrojejunostomy. Only patients with these preoperative findings were deemed to have "candy cane" syndrome. Eighteen (94%) cases were completed laparoscopically. Length of the "candy cane" ranged from 3 to 22 cm. Median length of stay was 1 day. After resection, 18 (94%) patients had complete resolution of their symptoms (P<.001). Mean body mass index decreased from 33.9±6.1 kg/m 2 preoperatively to 31.7±5.6 kg/m 2 at 6 months (17.4% excess weight loss) and 30.5±6.9 kg/m 2 at 1 year (25.7% excess weight loss). The average length of latest follow-up was 20.7 months. "Candy cane" syndrome is a real phenomenon that can be managed safely with excellent outcomes with resection of the blind afferent limb. A thorough diagnostic workup is paramount to proper identification of this syndrome. Surgeons should minimize the size of the blind afferent loop left at the time of initial RYGB. Copyright © 2017 American Society for Bariatric Surgery. Published by Elsevier Inc. All rights reserved.
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Do Adolescents with Gynecomastia Require Routine Evaluation by Endocrinology?
Malhotra, Armaan K; Amed, Shazhan; Bucevska, Marija; Bush, Kevin L; Arneja, Jugpal S
2018-07-01
Primary evidence for the role of endocrinologic investigations in patients with adolescent gynecomastia is lacking in the current literature. The objective of this study was to assess the yield of endocrinologic investigations in the evaluation of adolescent gynecomastia to inform current practice for this common condition. A 26-year retrospective review was conducted. Data collection included patients with gynecomastia presenting to endocrinology at a quaternary children's hospital with a catchment area of 1 million. Clinical metrics, endocrinologic results, treatments, and costs were reviewed. One hundred ninety-seven patients met inclusion criteria. Ninety-eight (50 percent) were overweight or obese and 29 (15 percent) had a positive family history. The median age at onset was 11.5 years; 25 cases (13 percent) were prepubertal. A total of 15 patients (7.6 percent) were diagnosed with secondary gynecomastia (10 related to exogenous substance use). Endocrine investigations were performed in 173 patients (87 percent), with positive findings in three cases (1.7 percent). One hundred one patients were observed, with a median age at resolution of 14.6 years; 86 patients underwent surgery at a median age of 16.5 years. The case-cost of endocrine evaluation was $389. Endocrinologic workup identified secondary gynecomastia in 7.6 percent of patients, of which only 1.7 percent were evident on blood work. This workup is associated with an avoidable case-cost burden to the health care system and largely unnecessary testing for the child. Because a majority of secondary gynecomastia cases (67 percent) were drug-induced, we do not suggest routine endocrinology workup, as it adds little value. The authors' data suggest that referral for surgery is warranted if gynecomastia persists beyond 16 years of age. Diagnostic, IV.
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Vasculitic central retinal vein occlusion: The presenting sign of seronegative rheumatoid arthritis.
Trese, Matthew G J; Yonekawa, Yoshihiro; Thomas, Benjamin J; Randhawa, Sandeep
2016-07-01
To report the case of a patient who presented with a vasculitic central retinal vein occlusion (CRVO), which was the result of an undiagnosed systemic inflammatory condition, seronegative rheumatoid arthritis (RA). The patient presented with reduced vision in the left eye and polyarthralgia. Fundoscopic examination revealed a central retinal vein occlusion (CRVO) with concurrent evidence of vasculitis. Work-up for polyarthralgia included comprehensive serologic testing for connective tissue disease, including Vectra ® disease activity (DA) testing. Results of these studies confirmed the diagnosis of seronegative rheumatoid arthritis (RA). Systemic steroid therapy was initiated with subsequent anatomic and visual improvement. We hypothesize that the systemic inflammation-a hallmark of RA-led to the development of a vasculitic CRVO and, thus, the retinal manifestations served as the disease marker that prompted thorough work-up of the patient's disease, even in the face of initial seronegativity. This case serves as a reminder that, in the setting of CRVO and polyarthralgia, systemic inflammatory conditions must be considered as the underlying etiology. Further, this case report highlights our evolving understanding of the role that serologic markers play in the diagnosis and monitoring of RA.
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Imaging in childhood urinary tract infection.
Riccabona, Michael
2016-05-01
Urinary tract infection (UTI) is a common query in pediatric radiology. Imaging for and after UTI is still a heavily debated topic with different approaches, as thorough evidence to decide upon a definite algorithm is scarce. This review article tries to address the clinical rational of the various approaches (general imaging, top-down or bottom-up, selected and individualized imaging concepts…), describes the available imaging modalities and the respective findings in imaging children with UTI, and proposes an imaging algorithm for the work-up of children during and after UTI discussing the "pros and cons" of the different attitudes. In summary, imaging by US is generally considered for all infants and children with a febrile or complicated (upper) UTI, particularly without previously known urinary tract anatomy. The further work-up (searching for renal scarring and assessment of vesico-ureteric reflux) is then decided according to these initial findings as well as the clinical presentation, course, and scenario.
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WORK-UP OF STILLBIRTH: A REVIEW OF THE EVIDENCE
SILVER, Robert M.; VARNER, Michael W.; REDDY, Uma; GOLDENBERG, Robert; PINAR, Halit; CONWAY, Deborah; BUKOWSKI, Radek; CARPENTER, Marshall; HOGUE, Carol; WILLINGER, Marian; DUDLEY, Donald; SAADE, George; STOLL, Barbara
2009-01-01
Despite improvements in antenatal and intrapartum care, stillbirth, defined as in utero fetal death at 20 weeks of gestation or greater, remains an important, largely unstudied, and poignant problem in obstetrics. Over 26,000 stillbirths were reported in the US in 2001. Although several conditions have been linked to stillbirth, it is difficult to define the precise etiology in many cases. This paper reviews known and suspected causes of stillbirth including genetic abnormalities, infection, fetal-maternal hemorrhage, and a variety of medical conditions in the mother. The proportion of stillbirths that have a diagnostic explanation is higher in centers that conduct a defined and systematic evaluation. Recommended diagnostic tests for stillbirth are discussed. The on-going work of the NICHD Stillbirth Collaborative Research Network, a consortium of 5 academic centers in the United States that are studying the scope and causes of stillbirth, is presented. PMID:17466694
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Quinkler, M
2012-09-01
The clinical signs and symptoms of primary adrenal insufficiency are unspecific often causing a delayed diagnosis or even misdiagnosis. In the diagnostic work-up the short synacthen test is regarded as the gold standard. Hydrocortisone and fludrocortisone are the preferred therapy for Addison's disease. The management and surveillance of therapy requires experience and several aspects need to be followed to prevent side effects which might occur due to overtreatment or undertreatment. Very important aspects in therapy are the repeated teaching of the patient and relatives, the issuing of an emergency steroid card and the prescription of a glucocorticoid emergency set. Acute adrenal failure (adrenal crisis), which might be the first manifestation of adrenal insufficiency, is a life-threatening situation requiring immediate glucocorticoid administration and fluid substitution. The most common causes for an adrenal crisis are gastrointestinal infections and fever and discontinuation of glucocorticoid therapy. This article gives an up-to-date overview of diagnostic and therapeutic aspects of Addison's disease.
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Imaging of femoroacetabular impingement-current concepts
Albers, Christoph E.; Wambeek, Nicholas; Hanke, Markus S.; Schmaranzer, Florian; Prosser, Gareth H.; Yates, Piers J.
2016-01-01
Following the recognition of femoroacetabular impingement (FAI) as a clinical entity, diagnostic tools have continuously evolved. While the diagnosis of FAI is primarily made based on the patients’ history and clinical examination, imaging of FAI is indispensable. Routine diagnostic work-up consists of a set of plain radiographs, magnetic resonance imaging (MRI) and MR-arthrography. Recent advances in MRI technology include biochemically sensitive sequences bearing the potential to detect degenerative changes of the hip joint at an early stage prior to their appearance on conventional imaging modalities. Computed tomography may serve as an adjunct. Advantages of CT include superior bone to soft tissue contrast, making CT applicable for image-guiding software tools that allow evaluation of the underlying dynamic mechanisms causing FAI. This article provides a summary of current concepts of imaging in FAI and a review of the literature on recent advances, and their application to clinical practice. PMID:29632685
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Wohlschläger, J; Welter, S; Stamatis, G; Theegarten, D; Hager, T; Mairinger, F; Worm, K; Schmid, K W; Müller, K M
2013-07-01
Benign epithelial tumors of the tracheobronchial system and the lungs are exceedingly rare. These entities encompass squamous and glandular papillomas (as well as their mixed forms) and adenomas (alveolar adenoma, papillary adenoma, salivary gland-like pleomorphic and mucinous adenomas and mucinous cystadenomas). These tumors are considered to be biologically benign neoplasms; however, they can pose considerable diagnostic difficulties, especially during frozen section evaluation, as they can mimic malignant tumors and in particular they can resemble well differentiated papillary adenocarcinomas. As a result of the extreme rarity of these tumors only a few descriptive diagnostic series exist and a systematic investigation including molecular data does not exist. This article presents the case of a 64-year-old patient with a glandular papilloma of the right main bronchus including the immunohistochemical and molecular work-up as well as a review of the current literature.
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CNS embryonal tumours: WHO 2016 and beyond.
Pickles, J C; Hawkins, C; Pietsch, T; Jacques, T S
2018-02-01
Embryonal tumours of the central nervous system (CNS) present a significant clinical challenge. Many of these neoplasms affect young children, have a very high mortality and therapeutic strategies are often aggressive with poor long-term outcomes. There is a great need to accurately diagnose embryonal tumours, predict their outcome and adapt therapy to the individual patient's risk. For the first time in 2016, the WHO classification took into account molecular characteristics for the diagnosis of CNS tumours. This integration of histological features with genetic information has significantly changed the diagnostic work-up and reporting of tumours of the CNS. However, this remains challenging in embryonal tumours due to their previously unaccounted tumour heterogeneity. We describe the recent revisions made to the 4th edition of the WHO classification of CNS tumours and review the main changes, while highlighting some of the more common diagnostic testing strategies. © 2017 British Neuropathological Society.
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Clinical potential of proteomics in the diagnosis of ovarian cancer.
Ardekani, Ali M; Liotta, Lance A; Petricoin, Emanuel F
2002-07-01
The need for specific and sensitive markers of ovarian cancer is critical. Finding a sensitive and specific test for its detection has an important public health impact. Currently, there are no effective screening options available for patients with ovarian cancer. CA-125, the most widely used biomarker for ovarian cancer, does not have a high positive predictive value and it is only effective when used in combination with other diagnostic tests. However, pathologic changes taking place within the ovary may be reflected in biomarker patterns in the serum. Combination of mass spectra generated by new proteomic technologies, such as surface-enhanced laser desorption ionization time-of-flight (SELDI-TOF) and artificial-intelligence-based informatic algorithms, have been used to discover a small set of key protein values and discriminate normal from ovarian cancer patients. Serum proteomic pattern analysis might be applied ultimately in medical screening clinics, as a supplement to the diagnostic work-up and evaluation.
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Heuts, Samuel; Sardari Nia, Peyman; Maessen, Jos G
2016-01-01
For the past decades, surgeries have become more complex, due to the increasing age of the patient population referred for thoracic surgery, more complex pathology and the emergence of minimally invasive thoracic surgery. Together with the early detection of thoracic disease as a result of innovations in diagnostic possibilities and the paradigm shift to personalized medicine, preoperative planning is becoming an indispensable and crucial aspect of surgery. Several new techniques facilitating this paradigm shift have emerged. Pre-operative marking and staining of lesions are already a widely accepted method of preoperative planning in thoracic surgery. However, three-dimensional (3D) image reconstructions, virtual simulation and rapid prototyping (RP) are still in development phase. These new techniques are expected to become an important part of the standard work-up of patients undergoing thoracic surgery in the future. This review aims at graphically presenting and summarizing these new diagnostic and therapeutic tools.
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Chapple, Will; Martell, Jon; Wilson, Joy S; Matsuura, Don T
2017-04-01
This case report examines an unusual presentation of a non-typhoidal Salmonella serovar with limited prevalence in the literature. This is the first case report to associate specifically the Salmonella muenchen serovar with rhabdomyolysis and myocarditis. This case report reviews the diagnostic criteria for myocarditis and explores the diagnostic dilemma of troponin elevation in the setting of rhabdomyolysis. It demonstrates that Salmonella muenchen has the ability to present in a broad range of individuals with complications extending beyond classical gastrointestinal symptoms. This report also concludes that diagnosis of the many possible complications from non-typhoidal Salmonella infections can be difficult due to patient comorbidities, variability in the severity of the illnesses, laboratory test limitations, and imaging limitations. When a patient presents with elevated troponins in the setting of rhabdomyolysis a careful workup should be done to evaluate for ischemic causes, myocarditis, or false elevation secondary to rhabdomyolysis.
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Zubair, Adeel S.; Salameh, Hassan; Erickson, Stephen B.; Prieto, Mikel
2016-01-01
Loin pain hematuria syndrome (LPHS), first described in 1967, is a rare pain syndrome, which is not well understood. The syndrome is characterized by severe intermittent or persistent flank pain, either unilateral or bilateral, associated with gross or microscopic hematuria. LPHS is a diagnosis of exclusion as there still is not a consensus of validated diagnostic criteria, though several criteria have been proposed. The wide differential diagnosis would suggest a meticulous yet specific diagnostic work-up depending on the individual clinical features and natural history. Several mechanisms regarding the pathophysiology of LPHS have been proposed but without pinpointing the actual causative etiology, the treatment remains symptomatic. Treatment modalities for LPHS are diverse including simple analgesia, opioid analgesic and kidney autotransplantation. This review article summarizes the current understanding regarding the pathophysiology of LPHS along with the steps required for proper diagnosis and a discussion of the different therapeutic approaches for LPHS. PMID:26798473
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[Hereditary fructose intolerance].
Rumping, Lynne; Waterham, Hans R; Kok, Irene; van Hasselt, Peter M; Visser, Gepke
2014-01-01
Hereditary fructose intolerance (HFI) is a rare metabolic disease affecting fructose metabolism. After ingestion of fructose, patients may present with clinical symptoms varying from indefinite gastrointestinal symptoms to life-threatening hypoglycaemia and hepatic failure. A 13-year-old boy was referred to the department of metabolic diseases because of an abnormal fructose loading test. He was known with persistent gastrointestinal symptoms since infancy. His dietary history revealed an avoidance of fruit and sweets. Because malabsorption was suspected, an oral fructose loading test was performed. During this test, he developed severe vagal symptoms which were probably caused by a potentially fatal hypoglycaemia. The diagnosis of HFI was confirmed by genetic analysis. A good dietary history may be of important help in the diagnosis of HFI. On suspicion of HFI, genetic analysis is easy and the first choice in the diagnostic work-up. With timely diagnosis and adequate dietary treatment patients have an excellent prognosis. Fructose loading tests as part of the diagnostics can be dangerous.
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Singh, Kumkum; Singh, Amit; Vidyarthi, Shivaji H; Jindal, Satyaprakash; Thounaojam, Chandra Kumar
2013-01-01
A liver abscess formation is a rare complication of a gallbladder perforation, with a cholecystohepatic communication. Niemeier, in 1934, classified free gallbladder perforations and generalised biliary peritonitis as an acute or a Type I gallbladder perforation, a pericholecystic abscess and localised peritonitis as a subacute or a Type II gallbladder perforation, and cholecystoenteric fistulas as chronic or Type III gallbladder perforations. We are describing a 50–year–old male patient who presented with right upper quadrant pain and was found to have an intrahepatic perforation of the gallbladder. Our patient had a Type II perforation. We have discussed the diagnostic work-up and the management of this rare entity. Due to the high mortality that can be caused by a delay in making the correct diagnosis, a gallbladder perforation represents a special diagnostic and surgical challenge. PMID:24179927
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Kentala, E; Pyykkö, I; Auramo, Y; Juhola, M
1995-03-01
An interactive database has been developed to assist the diagnostic procedure for vertigo and to store the data. The database offers a possibility to split and reunite the collected information when needed. It contains detailed information about a patient's history, symptoms, and findings in otoneurologic, audiologic, and imaging tests. The symptoms are classified into sets of questions on vertigo (including postural instability), hearing loss and tinnitus, and provoking factors. Confounding disorders are screened. The otoneurologic tests involve saccades, smooth pursuit, posturography, and a caloric test. In addition, findings from specific antibody tests, clinical neurotologic tests, magnetic resonance imaging, brain stem audiometry, and electrocochleography are included. The input information can be applied to workups for vertigo in an expert system called ONE. The database assists its user in that the input of information is easy. If not only can be used for diagnostic purposes but is also beneficial for research, and in combination with the expert system, it provides a tutorial guide for medical students.
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Solnes, Lilja B; Jones, Krystyna M; Rowe, Steven P; Pattanayak, Puskar; Nalluri, Abhinav; Venkatesan, Arun; Probasco, John C; Javadi, Mehrbod S
2017-08-01
Diagnosis of autoimmune encephalitis presents some challenges in the clinical setting because of varied clinical presentations and delay in obtaining antibody panel results. We examined the role of neuroimaging in the setting of autoimmune encephalitides, comparing the utility of 18 F-FDG PET/CT versus conventional brain imaging with MRI. Methods: A retrospective study was performed assessing the positivity rate of MRI versus 18 F-FDG PET/CT during the initial workup of 23 patients proven to have antibody-positive autoimmune encephalitis. 18 F-FDG PET/CT studies were analyzed both qualitatively and semiquantitatively. Areas of cortical lobar hypo (hyper)-metabolism in the cerebrum that were 2 SDx from the mean were recorded as abnormal. Results: On visual inspection, all patients were identified as having an abnormal pattern of 18 F-FDG uptake. In semiquantitative analysis, at least 1 region of interest with metabolic change was identified in 22 of 23 (95.6%) patients using a discriminating z score of 2. Overall, 18 F-FDG PET/CT was more often abnormal during the diagnostic period than MRI (10/23, 43% of patients). The predominant finding on brain 18 F-FDG PET/CT imaging was lobar hypometabolism, being observed in 21 of 23 (91.3%) patients. Hypometabolism was most commonly observed in the parietal lobe followed by the occipital lobe. An entire subset of antibody-positive patients, anti- N -methyl-d-aspartate receptor (5 patients), had normal MRI results and abnormal 18 F-FDG PET/CT findings whereas the other subsets demonstrated a greater heterogeneity. Conclusion: Brain 18 F-FDG PET/CT may play a significant role in the initial evaluation of patients with clinically suspected antibody-mediated autoimmune encephalitis. Given that it is more often abnormal when compared with MRI in the acute setting, this molecular imaging technique may be better positioned as an early biomarker of disease so that treatment may be initiated earlier, resulting in improved patient outcomes. © 2017 by the Society of Nuclear Medicine and Molecular Imaging.
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Hirschel, Tiffany; Steffen, Heimo; Pecoul, Victor; Calmy, Alexandra
2017-12-01
Typical symptoms of an acute human immunodeficiency virus (HIV) infections like fever and rash are not specific and can be caused by a multitude of other pathogens, such as Zika or rickettsiosis. Up to 30% of primary HIV infection do not present with the typical flu-like symptoms and thus represent a diagnostic challenge. In this report, we describe a rare case of optic neuropathy as the initial presentation of primary HIV infection, which resulted in irreversible blindness. To our knowledge, only four cases of optic neuropathy resulting from a recent HIV seroconversion have been reported. In January 2015, a 72-year-old man presented with a rash, fever and diffuse myalgias after returning from a fortnight in Cuba. In the context of the current polemic, Zika was considered likely. A diagnostic work-up, including dengue fever and Zika, was negative. Symptoms resolved spontaneously. In March, the patient experienced a sudden loss of vision first on one, a few days later on the other eye. Magnetic resonance imaging showed optic nerve enhancement suggesting neuritis. Numerous infective causes were sought and the patient was diagnosed with HIV. Corticosteroids and antiretroviral therapy were initiated but vision did not improve. Four weeks later an optic atrophy developed. After more than a year of follow-up the patient remains blind. Stored serum from January revealed a detectable viremia with a negative Western blot assay, typical of acute HIV infection. Optic neuritis is a rare complication of early HIV infection. Only four others cases have been described, some of which recovered their vision after the administration of corticosteroids and/or ARV treatment. The balance between ischemic and neuroimmune processes may play a role in recovery. Delayed diagnosis, due to an unjustified focus on the Zika virus may have contributed to the tragic outcome.
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[Tips for taking the medical history in patients with syncope].
Israel, Carsten W
2018-06-01
Transient loss of consciousness represents one of the most frequent reasons for patients to present in the emergency room. Already at the very beginning, the diagnostic work-up is faced with fundamental questions: (1) Was it really a loss of consciousness? (2) Which department (neurology, cardiology, or others) should check the patient? (3) Is an in-hospital diagnostic work-up required? These questions can be answered from a meticulous patient history which needs to be adjusted to the individual case but also has to systematically go through a list of questions. Patient history has to clarify whether syncope was present. Nonsyncopal events such as falls, transient global amnesia, epilepsy, psychogenic pseudosyncope, transient ischemic attack and drop attacks should be distinguished. In a second step, the four groups of causes of syncope can be assessed. Neurocardiogenic reflex syncope usually occurs with typical prodromes in typical situations in (younger) patients without heart disease. Orthostasis always occurs in upright position, typically associated with standing up and in patients treated with antihypertensive drugs. Arrhythmogenic syncope frequently shows an abrupt onset without prodromes, associated with injury and with palpitations or fast heart beat before the attack, in older patients frequently associated with known heart disease, in young patients without heart disease frequently with a family history positive for arrhythmias or sudden cardiac death. A positive history of structural cardiovascular disease should be considered as a cause of syncope, particularly if it occurs during exercise or in supine position, or is associated with chest pain or dyspnea. This review summarizes the most important questions that can elucidate the cause of syncope.
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Reconciling the effects of screening on prostate cancer mortality in the ERSPC and PLCO trials
Tsodikov, Alex; Gulati, Roman; Heijnsdijk, Eveline AM; Pinsky, Paul F; Moss, Sue M; Qiu, Sheng; de Carvalho, Tiago M; Hugosson, Jonas; Berg, Christine D; Auvinen, Anssi; Andriole, Gerald L; Roobol, Monique J; Crawford, E David; Nelen, Vera; Kwiatkowski, Maciej; Zappa, Marco; Luján, Marcos; Villers, Arnauld; Feuer, Eric J; de Koning, Harry J; Mariotto, Angela B; Etzioni, Ruth
2017-01-01
Background The European Randomized Study of Screening for Prostate Cancer (ERSPC) found screening reduced prostate cancer (PC) mortality, but the Prostate, Lung, Colorectal, and Ovarian trial (PLCO) found no reduction. Objective To evaluate whether effects of screening on PC mortality relative to no screening differed between the ERSPC and PLCO. Design Cox regression of PC death in each trial arm adjusted for age and trial, and extended analyses that accounted for increased incidence due to screening and diagnostic workup on each arm via mean lead times (MLTs). MLTs were estimated empirically and using analytic or microsimulation models. Setting Randomized controlled trials in Europe and the US. Participants Men aged 55–69 (ERSPC) or 55–74 (PLCO) at randomization. Intervention Prostate cancer screening. Measurements PC incidence and survival from randomization; PC incidence in the US before screening began. Results Estimated MLTs were similar in the ERSPC and PLCO intervention arms but were longer in the PLCO control arm than the ERSPC control arm. Extended analyses found no evidence that effects of screening differed between trials (P=0.37–0.47, range across MLT estimation approaches) but strong evidence that benefit increased with MLT (P=0.0027–0.0032). Screening was estimated to confer a 7–9% reduction in PC death per year of MLT. This translated into an estimated 25–31% and 27–32% lower risk of PC death under screening as performed in the ERSPC and PLCO intervention arms, respectively, relative to no screening. Limitations MLT is a simple metric of screening and diagnostic workup. Conclusion After accounting for differences in implementation and settings, the ERSPC and PLCO provide compatible evidence that screening reduces PC mortality. PMID:28869989
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Van den Poel, Bea; Kochuyt, Anne-Marie; Del Biondo, Elke; Dewaele, Barbara; Lierman, Els; Tousseyn, Thomas; de Hertogh, Gert; Vandenberghe, Peter; Boeckx, Nancy
2017-04-01
Mastocytosis is a heterogeneous disease caused by excessive mast cell (MC) proliferation. Diagnosis of systemic mastocytosis (SM) is based on the presence of major and minor criteria defined by the World Health Organization. Symptoms of MC activation can also occur in patients without SM or without allergic or inflammatory disease. These MC activation syndromes (MCAS) can be divided into primary (monoclonal) MCAS (MMAS) vs. secondary and idiopathic MCAS. In this single center study, the diagnostic work-up of 38 patients with a clinical suspicion of SM and/or with elevated basic tryptase levels is presented. Clinical symptoms, biochemical parameters, results of bone marrow investigation, flow cytometric immunophenotyping, and molecular analysis were retrospectively reviewed. Twenty-three patients were found to have a monoclonal MC disorder of which 19 were diagnosed with SM and 4 with MMAS. In 13/19 SM patients, multifocal MC infiltrates in the bone marrow were found (major criterion), while in 6 the diagnosis was based on the presence of ≥3 minor criteria. Flow cytometric analysis of bone marrow showed CD25 expression of MCs in all patients with SM and MMAS (range: 0.002-0.3% of cells). In bone marrow, the KIT D816V mutation was detected in all SM patients but in only 2 patients with MMAS (range: 0.007-9% mutated cells). Basic tryptase elevation was demonstrated in 16/19 patients with SM but also in 9/19 patients without SM. Our study reveals the heterogeneity of primary MC disorders and the importance of sensitive assays in patients suspected of having SM.
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Evaluation and Treatment of Essential Hypertension During Short Duration Space Flight
NASA Technical Reports Server (NTRS)
Rossum, Alfred C.; Baisden, Dennis L.
2000-01-01
During the last four decades of manned space flight, two individuals have successfully flown in space with the preflight diagnosis of essential hypertension (HTN). Treatment of this disease process in the astronaut population warrants special consideration particularly when selecting medication for a mission. A retrospective review of data offers two different clinical scenarios involving the treatment, or lack thereof, for essential hypertension during space flight. Case I; A Caucasian quinquagenerian diagnosed with HTN one year prior to the mission obtained flight certification after a negative diagnostic workup. The patient was placed on a diuretic. Preflight isolated blood pressure (BP) measurements averaged 138/102. Inflight, the patient electively declined medication. A 36-hour BP monitor revealed an average value of 124/87. Postflight, BP measurements returned to preflight BP values. Case II: A Caucasian quatrogenerian diagnosed with HTN 6 months prior to launch completed flight training after a negative diagnostic workup. The patient was placed on an ACE inhibiter. Preflight BP measurements averaged 130/80. Inflight, isolated BP measurements were considerably less. Normotensive values were obtained postflight. In both cases, BP values inflight were lower than pre or postflight values. Yelle et al has confirmed similar findings in the normotensive astronaut population. Spaceflight may result in fluid shifting, mild dehydration, electrolyte imbalance, orthostatic hypotension, and increased heart rates. Based on these factors, certain classes of antihypertensive agents such as vasodilators, beta-blockers, and diuretics are excluded from consideration as a primary therapeutic modality. To date, Ace Inhibitors are viewed as the more acceptable drug of choice during spaceflight. Newer classes of drugs may also provide additional choices. Presently, astronauts developing uncomplicated HTN may continue their careers when treated with the appropriate class of continue their careers when treated with the appropriate class of antihypertensive medication.
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Faruch Bilfeld, Marie; Lapègue, Franck; Chiavassa Gandois, Hélène; Bayol, Marie Aurélie; Bonnevialle, Nicolas; Sans, Nicolas
2017-02-01
Acromioclavicular joint injuries are typically diagnosed by clinical and radiographic assessment with the Rockwood classification, which is crucial for treatment planning. The purpose of this study was to describe how the ultrasound findings of acromioclavicular joint injury compare with radiography and MRI findings. Forty-seven patients with suspected unilateral acromioclavicular joint injury after acute trauma were enrolled in this prospective study. All patients underwent digital radiography, ultrasound and 3T MRI. A modified Rockwood classification was used to evaluate the coracoclavicular ligaments. The classifications of acromioclavicular joint injuries diagnosed with radiography, ultrasound and MRI were compared. MRI was used as the gold standard. The agreement between the ultrasound and MRI findings was very good, with a correlation coefficient of 0.83 (95 % CI: 0.72-0.90; p < 0.0001). Ultrasound detected coracoclavicular ligament injuries with a sensitivity of 88.9 %, specificity of 90.0 %, positive predictive value of 92.3 % and negative predictive value of 85.7 %. The agreement between the ultrasound and radiography findings was poor, with a correlation coefficient of 0.69 (95 % CI: 0.51-0.82; p < 0.0001). Ultrasound is an effective examination for the diagnostic work-up of lesions of the coracoclavicular ligaments in the acute phase of an acromioclavicular injury. • Ultrasound is appropriate for acute acromioclavicular trauma due to its accessibility. • Ultrasound contributes to the diagnostic work-up of acute lesions of the coracoclavicular ligaments. • Ultrasound is appropriate in patients likely to benefit from surgical treatment. • Ultrasound could be a supplement to standard radiography in acute acromioclavicular trauma.
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Helyar, Vincent G; Gupta, Yuri; Blakeway, Lyndall; Charles-Edwards, Geoff; Katsanos, Konstantinos; Karunanithy, Narayan
2018-02-01
This study evaluates the use of balanced steady-state free precession MRI (bSSFP-MRI) in the diagnostic work-up of patients undergoing interventional deep venous reconstruction (I-DVR). Intravenous digital subtraction angiography (IVDSA) was used as the gold-standard for comparison to assess disease extent and severity. A retrospective comparison of bSSFP-MRI to IVDSA was performed in all patients undergoing both examinations for treatment planning prior to I-DVR. The severity of disease in each venous segment was graded by two board-certified radiologists working independently, according to a predetermined classification system. In total, 44 patients (225 venous segments) fulfilled the inclusion criteria. A total of 156 abnormal venous segments were diagnosed using bSSFP-MRI compared with 151 using IVDSA. The prevalence of disease was higher in the iliac and femoral segments (range, 79.6-88.6%). Overall sensitivity, specificity, positive likelihood ratio, negative likelihood ratio and the diagnostic ratio for bSSFP-MRI were 99.3%, 91.9%, 12.3, 0.007 and 1700, respectively. This study supports the use of non-contrast balanced SSFP-MRI in the assessment of the deep veins of the lower limb prior to I-DVR. The technique offers an accurate, fast and non-invasive alternative to IVDSA. Advances in Knowledge: Although balanced SSFP-MRI is commonly used in cardiac imaging, its use elsewhere is limited and its use in evaluating the deep veins prior to interventional reconstruction is not described. Our study demonstrates the usefulness of this technique in the work-up of patients awaiting interventional venous reconstruction compared with the current gold standard.
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Trott, M J; Farah, G; Stokes, V J; Wang, L M; Grossman, A B
2016-01-01
We present a case of a young female patient with a rare cause of relapsing and remitting Cushing's syndrome due to ectopic ACTH secretion from a thymic neuroendocrine tumour. A 34-year-old female presented with a constellation of symptoms of Cushing's syndrome, including facial swelling, muscle weakness and cognitive impairment. We use the terms 'relapsing and remitting' in this case report, given the unpredictable time course of symptoms, which led to a delay of 2 years before the correct diagnosis of hypercortisolaemia. Diagnostic workup confirmed ectopic ACTH secretion, and a thymic mass was seen on mediastinal imaging. The patient subsequently underwent thymectomy with complete resolution of her symptoms. Several case series have documented the association of Cushing's syndrome with thymic neuroendocrine tumours (NETs), although to our knowledge there are a few published cases of patients with relapsing and remitting symptoms. This case is also notable for the absence of features of the MEN-1 syndrome, along with the female gender of our patient and her history of non-smoking. Ectopic corticotrophin (ACTH) secretion should always be considered in the diagnostic workup of young patients with Cushing's syndromeThere is a small but growing body of literature describing the correlation between ectopic ACTH secretion and thymic neuroendocrine tumours (NETs)The possibility of a MEN-1 syndrome should be considered in all patients with thymic NETs, and we note the observational association with male gender and cigarette smoking in this cohortAn exception to these associations is the finding of relatively high incidence of thymic NETs among female non-smoking MEN-1 patients in the Japanese compared with Western populationsThe relapsing and remitting course of our patient's symptoms is noteworthy, given the paucity of this finding among other published cases.
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Added value of 18F-FDG PET/CT in diagnosing infected hip prosthesis.
Kwee, Robert M; Broos, Wouter Am; Brans, Boudewijn; Walenkamp, Geert Him; Geurts, Jan; Weijers, René E
2018-05-01
Background The diagnosis of infected hip prosthesis is frequently not straightforward yet very important as it changes treatment. Purpose To retrospectively investigate the added value of 18F-FDG PET/CT to conventional tests including radiography, erythrocyte sedimentation rate (ESR)/C-reactive protein (CRP) testing, and joint aspiration, in diagnosing infected hip prosthesis. Material and Methods Seventy-eight hip prostheses of 78 patients (55% men; mean age = 66.5 years; age range = 30-85 years) with non-specific clinical presentation, i.e. no abscess or sinus tract communicating with the joint space at clinical examination, were analyzed. Cultures of intra-articular fluid and peri-implant tissues after revision surgery or clinical follow-up ≥6 months served as gold standard. Areas under the receiver operating characteristic curves (AUCs) of radiography, ESR/CRP testing, aspiration culture, and white blood cell (WBC) count without and with the addition of 18F-FDG PET/CT were compared. Results The addition of 18F-FDG PET/CT increased AUCs: for radiography with 0.212, P = 0.001; for ESR/CRP testing with 0.076, P = 0.072; for aspiration culture with 0.126, P = 0.032; and for aspiration WBC count with 0.191, P = 0.035. Conclusion This study shows that 18F-FDG PET/CT adds to individual conventional tests in diagnosing infected hip prosthesis. It may improve the preoperative planning and should therefore be considered in the diagnostic work-up. Future studies should define the exact place of 18F-FDG PET/CT in the diagnostic work-up of periprosthetic joint infection.
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Reuter, H; Burgess, L J; Schneider, J; Van Vuuren, W; Doubell, A F
2006-02-01
To establish the influence of human immunodeficiency virus (HIV) infection on the histopathological features of patients presenting with tuberculous pericarditis. A prospective study was carried out at Tygerberg Academic Hospital, South Africa; 36 patients with large pericardial effusions had open pericardial biopsies under general anaesthesia and were included in the study. Patients underwent pericardiocentesis, followed by daily intermittent catheter drainage; a comprehensive diagnostic work-up (including histopathology of the pericardial tissue) was also performed. Histological tuberculous pericarditis was diagnosed according to predetermined criteria. Tuberculous pericarditis was identified in 25 patients, five of whom were HIV+. The presence of granulomatous inflammation (with or without necrosis) and/or Ziehl-Neelsen positivity yielded the best test results (sensitivity 64%, specificity 100% and diagnostic efficiency 75%). Co-infection with HIV impacts on the histopathological features of pericardial tuberculosis and leads to a decrease in the sensitivity of the test. In areas which have a high prevalence of tuberculosis, the combination of a sensitive test such as adenosine deaminase, chest X-ray and clinical features has a higher diagnostic efficiency than pericardial biopsy in diagnosing tuberculous pericarditis.
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[A boy with a painful knee: bone tumour or stress fracture?].
Robben, Bart J; Jutte, Paul C
2012-01-01
The symptoms of a stress fracture are almost identical to those of most bone tumours. Even with the use of various imaging techniques, it can be difficult to establish the correct diagnosis. Although a primary bone tumour requires early treatment to improve its prognosis, the discriminative factor in the diagnosis of a stress fracture is its clinical development over time. A 10-year-old boy was referred to our outpatient clinic on the suspicion of a primary bone tumour in his right tibia. A case was once described in this journal in which a stress fracture had eventually led to an amputation. The suspicion of primary bone tumour often marks the start of a long and intense diagnostic course. A stress fracture is the major diagnostic pitfall when there is a suspicion of such a tumour. If doubts persist after a diagnostic work-up by imaging, consultation with the Bone Tumour Committee is indicated. The patient can also be quickly referred to a centre specialised in treating bone tumours, as was the case in this article.
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Weiss, Daniel; Koopmann, Mario; Rudack, Claudia
2011-06-01
Human papillomavirus (HPV) is a basic risk factor for head and neck squamous cell carcinoma (HNSCC). Little knowledge exists about the impact of HPV on clinical diagnostic and therapy of patients with HNSCC. We evaluated the evidence of HPV16 in 131 retrospectively collected HNSCC and associated cervical lymph node metastases by HPV16 real-time polymerase chain reaction (PCR) and p16 immunohistochemistry and its impact on clinicopathological characteristics. HPV16-DNA and p16 overexpression were present in 27% of HNSCCs. All cervical lymph node metastases of HPV16-positive HNSCC showed HPV16-DNA. HPV16 was strongly associated with tumors arising from the oropharyngeal site (p < .000001), favorable outcome after standard therapy in univariate (p = .001) and multivariate (p = .0004) analysis, and cervical lymph node metastases before primary detection. HPV16-diagnostic in cervical lymph node metastases can predict the site of tumor origin in case of carcinoma of unknown primary (CUP) and favorable outcome and should, therefore, be included in routine diagnostic workup. Copyright © 2010 Wiley Periodicals, Inc.
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Recommendations on nuclear and multimodality imaging in IE and CIED infections.
Erba, Paola Anna; Lancellotti, Patrizio; Vilacosta, Isidre; Gaemperli, Oliver; Rouzet, Francois; Hacker, Marcus; Signore, Alberto; Slart, Riemer H J A; Habib, Gilbert
2018-05-24
In the latest update of the European Society of Cardiology (ESC) guidelines for the management of infective endocarditis (IE), imaging is positioned at the centre of the diagnostic work-up so that an early and accurate diagnosis can be reached. Besides echocardiography, contrast-enhanced CT (ce-CT), radiolabelled leucocyte (white blood cell, WBC) SPECT/CT and [ 18 F]FDG PET/CT are included as diagnostic tools in the diagnostic flow chart for IE. Following the clinical guidelines that provided a straightforward message on the role of multimodality imaging, we believe that it is highly relevant to produce specific recommendations on nuclear multimodality imaging in IE and cardiac implantable electronic device infections. In these procedural recommendations we therefore describe in detail the technical and practical aspects of WBC SPECT/CT and [ 18 F]FDG PET/CT, including ce-CT acquisition protocols. We also discuss the advantages and limitations of each procedure, specific pitfalls when interpreting images, and the most important results from the literature, and also provide recommendations on the appropriate use of multimodality imaging.
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Ocular Pharmacology of Tear Film, Dry Eye, and Allergic Conjunctivitis.
Gulati, Shilpa; Jain, Sandeep
2017-01-01
Dry Eye Disease (DED) is "a multifactorial disease of the tears and ocular surface that results in symptoms of discomfort, visual disturbance, and tear-film instability with potential damage to the ocular surface." DED comprises two etiologic categories: aqueous-deficient dry eye (ADDE) and evaporative dry eye (EDE). Diagnostic workup of DED should include clinical history, symptom questionnaire, fluorescein TBUT, ocular surface staining grading, Schirmer I/II, lid and meibomian pathology, meibomian expression, followed by other available tests. New diagnostic tests employ the Oculus Keratograph, which performs non-invasive tear-film analysis and a bulbar redness (BR). The TearLab Osmolarity Test enables rapid clinical evaluation of tear osmolarity. Lipiview is a recently developed diagnostic tool that uses interferometry to quantitatively evaluate tear-film thickness. In DED, epithelial and inflammatory cells produce a variety of inflammatory mediators. A stagnant tear film and decreased concentration of mucin result in the accumulation of inflammatory factors that can penetrate tight junctions and cause epithelial cell death. DED treatment algorithms are based on severity of clinical signs and symptoms, and disease etiology. Therapeutic approaches include lubricating artificial tears and immunomodulatory agents.
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Ciardo, Diana E.; Lucke, Katja; Imhof, Alex; Bloemberg, Guido V.; Böttger, Erik C.
2010-01-01
The implementation of internal transcribed spacer (ITS) sequencing for routine identification of molds in the diagnostic mycology laboratory was analyzed in a 5-year study. All mold isolates (n = 6,900) recovered in our laboratory from 2005 to 2009 were included in this study. According to a defined work flow, which in addition to troublesome phenotypic identification takes clinical relevance into account, 233 isolates were subjected to ITS sequence analysis. Sequencing resulted in successful identification for 78.6% of the analyzed isolates (57.1% at species level, 21.5% at genus level). In comparison, extended in-depth phenotypic characterization of the isolates subjected to sequencing achieved taxonomic assignment for 47.6% of these, with a mere 13.3% at species level. Optimization of DNA extraction further improved the efficacy of molecular identification. This study is the first of its kind to testify to the systematic implementation of sequence-based identification procedures in the routine workup of mold isolates in the diagnostic mycology laboratory. PMID:20573873
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Schlager, Daniel; Maas, Moritz; Hein, Simon; Adams, Fabian; Schoenthaler, Martin; Wetterauer, Ulrich; Diemer, Thorsten; Weidner, Wolfgang; Miernik, Arkadiusz
2016-08-01
The most common pathologies of the seminal tract are persistent hematospermia, seminal vesicle stones, and seminal duct obstruction. Endoscopic diagnostic work-up of the seminal tract is impeded by complex anatomy and lack of technical equipment. To date, there is no standardized endoscopic approach. The purpose of this study was to investigate the applicability and feasibility of a flexible microoptical device for atraumatic endoscopy of the seminal tract in a male human cadaver. The transurethral endoscopic examination was performed on a male cadaver. No premortal interventions or diseases of the genitourinary tract had been reported. The seminal orifice was identified via cystoscopy and accessed by the Seldinger technique using a hydrophilic guidewire and ureteral catheter. Retrograde endoscopic inspection of the distal seminal tract was performed using a miniaturized flexible endoscope. An antegrade endoscopic inspection of the seminal tract was carried out via high scrotal access to the vas deferens. Structures of the seminal tract, such as the ejaculatory duct, seminal vesicles, and distal portion of the ductus deferentes, were visualized using the miniaturized endoscope. Image quality allowed identification of anatomical structures and characterization of tissue properties. The technical limitations we observed involved the system's maneuverability. Initial results of this novel endoscopic approach to the seminal tract using a flexible microoptical system are encouraging. However, considerable anatomical limitations of the targeted organs necessitate further refinements of the technical equipment. This approach might improve diagnostics and treatment of genitourinary diseases. Future surgical techniques may include intraseminal laser therapy or endoocclusion to monitor fertility in men.
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Shimanovsky, Alexei; Patel, Devbala; Wasser, Jeffrey
2016-01-01
Immune thrombocytopenic purpura (ITP) is characterized by a decreased platelet count caused by excess destruction of platelets and inadequate platelet production. In many cases, the etiology is not known, but the viral illness is thought to play a role in the development of some cases of ITP. The current (2011) American Society of Hematology ITP guidelines recommend initial diagnostic studies to include testing for HIV and Hepatitis C. The guidelines suggest that initial treatment consist of observation, therapy with corticosteroids, IVIG or anti D. Most cases respond to the standard therapy such that the steroids may be tapered and the platelet counts remain at a hemostatically safe level. Some patients with ITP are dependent on long-term steroid maintenance, and the thrombocytopenia persists with the tapering of the steroids. Recent case reports demonstrate that ITP related to cytomegalovirus (CMV) can persist in spite of standard therapy and that antiviral therapy may be indicated. Herein we report a case of a 26-year-old female with persistent ITP that resolved after the delivery of a CMV-infected infant and placenta. Furthermore, we review the current literature on CMV-associated ITP and propose that the current ITP guidelines be amended to include assessment for CMV, even in the absence of signs and symptoms, as part of the work-up for severe and refractory ITP, especially prior to undergoing an invasive procedure such as splenectomy.
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Shimanovsky, Alexei; Patel, Devbala; Wasser, Jeffrey
2016-01-01
Immune thrombocytopenic purpura (ITP) is characterized by a decreased platelet count caused by excess destruction of platelets and inadequate platelet production. In many cases, the etiology is not known, but the viral illness is thought to play a role in the development of some cases of ITP. The current (2011) American Society of Hematology ITP guidelines recommend initial diagnostic studies to include testing for HIV and Hepatitis C. The guidelines suggest that initial treatment consist of observation, therapy with corticosteroids, IVIG or anti D. Most cases respond to the standard therapy such that the steroids may be tapered and the platelet counts remain at a hemostatically safe level. Some patients with ITP are dependent on long-term steroid maintenance, and the thrombocytopenia persists with the tapering of the steroids. Recent case reports demonstrate that ITP related to cytomegalovirus (CMV) can persist in spite of standard therapy and that antiviral therapy may be indicated. Herein we report a case of a 26-year-old female with persistent ITP that resolved after the delivery of a CMV-infected infant and placenta. Furthermore, we review the current literature on CMV-associated ITP and propose that the current ITP guidelines be amended to include assessment for CMV, even in the absence of signs and symptoms, as part of the work-up for severe and refractory ITP, especially prior to undergoing an invasive procedure such as splenectomy. PMID:26740871
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Trawinski, Henning; Gräber, Sandra; Leifels, Michael; Schubert, Stefan; Lübbert, Christoph
2015-12-01
A 20-year-old Jordanian exchange student presents with recurrent fever, night sweats, cough, and swelling and redness around the ankle. Physical examination further reveals bilateral ankle arthritis and painful cervical lymphadenopathy. Laboratory tests show signs of autoimmune hemolytic anemia, elevated liver function tests, and moderate laboratory signs of inflammation. All blood cultures reveal growth of gram-negative coccoid rods which are initially identified by mass spectrometry as Moraxella lacunata and Ochrobactrum anthropi. However, antimicrobial therapy with imipenem / cilastatin does not improve the patient's clinical condition. Based on the travel history including consumption of yogurt from unpasteurized sheep's milk, we perform serological tests with a strongly positive result for Brucella species, and additional work-up of blood culture isolates confirm the definitive diagnosis of brucellosis (Malta fever, infection by Brucella melitensis). After initiation of antimicrobial therapy with doxycycline and rifampin the patient shows complete resolution of fever. Arthritis, autoimmune hemolytic anemia and accompanying hepatitis improve in the course. Thus, since brucellosis is endemic to countries like Jordan, it should be considered as a possible agent of fever of unknown origin especially in migrants unresponsive to empiric therapy and appropriate diagnostic tests including meticulous validation of blood cultures should be performed. Standard therapy is a combination of doxycycline with rifampin for at least 6 weeks. © Georg Thieme Verlag KG Stuttgart · New York.
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Grossmann, Mathis; Matsumoto, Alvin M
2017-03-01
Middle-aged and older men (≥50 years), especially those who are obese and suffer from comorbidities, not uncommonly present with clinical features consistent with androgen deficiency and modestly reduced testosterone levels. Commonly, such men do not demonstrate anatomical hypothalamic-pituitary-testicular axis pathology but have functional hypogonadism that is potentially reversible. Literature review from 1970 to October 2016. Although definitive randomized controlled trials are lacking, evidence suggests that in such men, lifestyle measures to achieve weight loss and optimization of comorbidities, including discontinuation of offending medications, lead to clinical improvement and a modest increase in testosterone. Also, androgen deficiency-like symptoms and end-organ deficits respond to targeted treatments (such as phosphodiesterase-5 inhibitors for erectile dysfunction) without evidence that hypogonadal men are refractory. Unfortunately, lifestyle interventions remain difficult and may be insufficient even if successful. Testosterone therapy should be considered primarily for men who have significant clinical features of androgen deficiency and unequivocally low testosterone levels. Testosterone should be initiated either concomitantly with a trial of lifestyle measures, or after such a trial fails, after a tailored diagnostic work-up, exclusion of contraindications, and appropriate counseling. There is modest evidence that functional hypogonadism responds to lifestyle measures and optimization of comorbidities. If achievable, these interventions may have demonstrable health benefits beyond the potential for increasing testosterone levels. Therefore, treatment of underlying causes of functional hypogonadism and of symptoms should be used either as an initial or adjunctive approach to testosterone therapy.
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Córdoba, Marta; Rodriguez-Quiroga, Sergio Alejandro; Vega, Patricia Analía; Salinas, Valeria; Perez-Maturo, Josefina; Amartino, Hernán; Vásquez-Dusefante, Cecilia; Medina, Nancy; González-Morón, Dolores; Kauffman, Marcelo Andrés
2018-01-01
Background Diagnostic trajectories for neurogenetic disorders frequently require the use of considerable time and resources, exposing patients and families to so-called “diagnostic odysseys”. Previous studies have provided strong evidence for increased diagnostic and clinical utility of whole-exome sequencing in medical genetics. However, specific reports assessing its utility in a setting such as ours- a neurogeneticist led academic group serving in a low-income country—are rare. Objectives To assess the diagnostic yield of WES in patients suspected of having a neurogenetic condition and explore the cost-effectiveness of its implementation in a research group located in an Argentinean public hospital. Methods This is a prospective study of the clinical utility of WES in a series of 40 consecutive patients selected from a Neurogenetic Clinic of a tertiary Hospital in Argentina. We evaluated patients retrospectively for previous diagnostic trajectories. Diagnostic yield, clinical impact on management and economic diagnostic burden were evaluated. Results We demonstrated the clinical utility of Whole Exome Sequencing in our patient cohort, obtaining a diagnostic yield of 40% (95% CI, 24.8%-55.2%) among a diverse group of neurological disorders. The average age at the time of WES was 23 (range 3–70). The mean time elapsed from symptom onset to WES was 11 years (range 3–42). The mean cost of the diagnostic workup prior to WES was USD 1646 (USD 1439 to 1853), which is 60% higher than WES cost in our center. Conclusions WES for neurogenetics proved to be an effective, cost- and time-saving approach for the molecular diagnosis of this heterogeneous and complex group of patients. PMID:29389947
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Applying industrial process improvement techniques to increase efficiency in a surgical practice.
Reznick, David; Niazov, Lora; Holizna, Eric; Siperstein, Allan
2014-10-01
The goal of this study was to examine how industrial process improvement techniques could help streamline the preoperative workup. Lean process improvement was used to streamline patient workup at an endocrine surgery service at a tertiary medical center utilizing multidisciplinary collaboration. The program consisted of several major changes in how patients are processed in the department. The goal was to shorten the wait time between initial call and consult visit and between consult and surgery. We enrolled 1,438 patients enrolled in the program. The wait time from the initial call until consult was reduced from 18.3 ± 0.7 to 15.4 ± 0.9 days. Wait time from consult until operation was reduced from 39.9 ± 1.5 to 33.9 ± 1.3 days for the overall practice and to 15.0 ± 4.8 days for low-risk patients. Patient cancellations were reduced from 27.9 ± 2.4% to 17.3 ± 2.5%. Overall patient flow increased from 30.9 ± 5.1 to 52.4 ± 5.8 consults per month (all P < .01). Utilizing process improvement methodology, surgery patients can benefit from an improved, streamlined process with significant reduction in wait time from call to initial consult and initial consult to surgery, with reduced cancellations. This generalized process has resulted in increased practice throughput and efficiency and is applicable to any surgery practice. Copyright © 2014 Elsevier Inc. All rights reserved.
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Diagnosis and management of acute heart failure
Ural, Dilek; Çavuşoğlu, Yüksel; Eren, Mehmet; Karaüzüm, Kurtuluş; Temizhan, Ahmet; Yılmaz, Mehmet Birhan; Zoghi, Mehdi; Ramassubu, Kumudha; Bozkurt, Biykem
2016-01-01
Acute heart failure (AHF) is a life threatening clinical syndrome with a progressively increasing incidence in general population. Turkey is a country with a high cardiovascular mortality and recent national statistics show that the population structure has turned to an ‘aged’ population. As a consequence, AHF has become one of the main reasons of admission to cardiology clinics. This consensus report summarizes clinical and prognostic classification of AHF, its worldwide and national epidemiology, diagnostic work-up, principles of approach in emergency department, intensive care unit and ward, treatment in different clinical scenarios and approach in special conditions and how to plan hospital discharge. PMID:26574757
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Cytogenetic analysis in acute myeloid leukaemia.
Campbell, Lynda J; White, Joanne S
2011-01-01
Cytogenetic analysis is an integral part of the diagnostic work-up of the patient with acute myeloid leukaemia. Conventional cytogenetic analysis relies on obtaining a good quality bone marrow specimen in a timely fashion and setting up at least two short-term cultures. A 15-24-h culture and a 48-h synchronised culture are routinely set up but as the cytogenetics result is often required urgently to determine the type of therapy to be administered, analysis is undertaken using the overnight culture in the first instance. Rapid and accurate analysis relies on obtaining high-quality G-banding. Knowledge of the conditions affecting banding is therefore essential.
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Radionuclide imaging in herpes simplex encephalitis. [/sup 99m/Tc tracer techniques
DOE Office of Scientific and Technical Information (OSTI.GOV)
Karlin, C.A.; Robinson, R.G.; Hinthorn, D.R.
1978-01-01
Eight patients with herpes simplex encephalitis among the 10 cases diagnosed at the University of Kansas Medical Center from 1966 to 1976 were studied with /sup 99m/Tc early in their diagnostic work-up. The images were unilaterally positive in the temporal lobe area in all 8 patients. Radionuclide studies can suggest herpes simplex as the specific etiology in cases of encephalitis and can also indicate the best site for brain biopsy to confirm the diagnosis by fluorescent antibody techniques. Appropriate antiviral therapy should be instituted as soon as possible to alter the course of this destructive form of viral encephalitis.
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Theophylline-Induced Seizures: Clinical and Pathophysiologic Aspects
Nakada, Tsutomu; Kwee, Ingrid L.; Lerner, Alfred M.; Remler, Michael P.
1983-01-01
The clinical features and management of theophylline-induced seizures are not well appreciated in spite of their unique aspects. These seizures tend to occur in neurologically intact patients and leave no or only minor neurologic sequelae if controlled early. They begin with focal motor seizures with or without secondary generalization and are followed by stupor or coma. They are responsive only to adjustment of theophylline dosage. Should the motor phenomenon persist, it takes the form of epilepsia partialis continua. Extensive workup for a structural brain lesion may be unrewarding. The electroencephalogram typically shows periodic lateralized epileptiform discharges, which may provide a diagnostic clue. PMID:6858124
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Vital, Anne; Vital, Claude
2014-01-01
Simultaneous combined superficial peroneal nerve and peroneous brevis muscle biopsy, via the same cutaneous incision, allows examination of several tissue specimens and significantly improves the diagnosis of systemic diseases with peripheral nerve involvement. Vasculitides are certainly the most frequently diagnosed on neuro-muscular biopsies, but this procedure is also well advised to asses a diagnosis of sarcoidosis or amyloidosis. More occasionally, combined nerve and muscle biopsy may reveal an unpredicted diagnosis of cholesterol embolism, intra-vascular lymphoma, or enables complementary diagnosis investigations on mitochondrial cytopathy or storage disease. PMID:24618073
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Errahmouni, A; Bun, S-S; Latcu, D G; Tazi-Mezalek, A; Saoudi, N
2017-11-01
A 12 year-old boy, with no history of cardiac disease, was referred to our department for evaluation of an incessant accelerated idioventricular rhythm (AIVR) complicated with severe left ventricular (LV) dysfunction and cardiogenic shock. Extensive diagnostic work-up failed to reveal any structural heart disease. During electrophysiological study, AIVR originated from the right ventricular endocardial anterior wall and was successfully ablated using remote magnetic navigation. LV function showed complete recovery four weeks after the procedure. This case highlights a life-threatening evolution of an arrhythmia generally presented as a benign entity in children. Copyright © 2017 Elsevier Masson SAS. All rights reserved.
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Diagnostics in assisted human reproduction.
Montoya, Juan Manuel; Bernal, Alejandra; Borrero, Claudia
2002-01-01
The World Health Organization (WHO) estimates that 50-80 x 10(6) couples in the world are infertile, i.e. 7-15% of all couples of reproductive age (15-45 years old). The term infertility refers to couples who have been unable to conceive children for at least 1 year of regular unprotected intercourse. Although the frequency and origin of infertility varies, approximately 40-60% of the aetiology of infertility in the population studied is due to female causes. The introduction of assisted reproduction techniques, which offer couples the best opportunities for pregnancy, has opened a vast field of knowledge in reproductive biology. The medical history must be taken meticulously, with enough time to obtain the largest possible amount of relevant information. It is recommended that both partners be included in the initial work-up. In recent decades, technological progress has been favoured with the development of a great variety of diagnostic tests. Moreover, a very valuable tool helping to solve this problem has gained strength and is available to everybody - so-called 'evidence-based medicine'. There are three categories in infertility diagnostic tests. The first category includes tests showing a well-established correlation with pregnancy, e.g. semen analysis, tubal patency with hysterosalpingography or laparoscopy, and ovulation detection. The second category includes patients whose results are not consistently related to pregnancy. Here, these tests include sperm penetration assay in the zona-free hamster oocyte, post-coital tests, sperm penetration into cervical mucus, and tests to detect anti-sperm antibodies. The third group includes patients whose tests are not correlated with pregnancy. The relevant tests include endometrial biopsy, the presence of varicocele, and Chlamydia detection tests. Tests for infertility are often expensive. Since these patients are usually anxious and eager and will do almost anything to have a child, care must be taken to avoid exploitation of their hopes with unnecessary procedures. This text now reviews and updates the procedures used to investigate infertility.
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Dos Santos, Raquel Rodrigues; Niquini, Roberta Pereira; Bastos, Francisco Inácio; Domingues, Rosa Maria Soares Madeira
2017-01-01
The study aimed to assess conformity with Brazil's standard protocol for diagnostic and therapeutic practices in the management of congenital syphilis by pediatricians in public maternity hospitals. A cross-sectional study was conducted in 2015 with 41 pediatricians working in all the public maternity hospitals in Teresina, the capital of Piauí State, Northeast Brazil, through self-completed questionnaires. The study assessed the conformity of knowledge and practices according to the Brazilian Ministry of Health protocols. The study has made evident low access to training courses (54%) and insufficient knowledge of the case definition of congenital syphilis (42%) and rapid tests for syphilis (39%). Flaws were observed in the diagnostic workup and treatment of newborns. Requesting VDRL (88%) and correct treatment of neurosyphilis (88%) were the practices that showed the highest conformity with standard protocols. Low conformity with protocols leads to missed opportunities for identifying and adequately treating congenital syphilis. Based on the barriers identified in the study, better access to diagnostic and treatment protocols, improved recording on prenatal cards and hospital patient charts, availability of tests and medicines, and educational work with pregnant women should be urgently implemented, aiming to reverse the currently inadequate management of congenital syphilis and to curb its spread.
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Snapping hip: imaging and treatment.
Lee, Kenneth S; Rosas, Humberto G; Phancao, Jean-Pierre
2013-07-01
Snapping hip, or coxa saltans, presents as an audible or palpable snapping that occurs around the hip during movement and can be associated with or without pain. The prevalence of snapping hip is estimated to occur in up to 10% of the general population, but it is especially seen in athletes such as dancers, soccer players, weight lifters, and runners. Although the snapping sound can be readily heard, the diagnostic cause may be a clinical challenge. The causes of snapping hip have been divided into two distinct categories: extra-articular and intra-articular. Extra-articular snapping hip can be further subdivided into external and internal causes. Advances in imaging techniques have improved the diagnostic accuracy of the various causes of snapping hip, mainly by providing real-time imaging evaluation of moving structures during the snapping phase. Image-guided treatments have also been useful in the diagnostic work-up of snapping hip given the complexity and multitude of causes of hip pain. We discuss the common and uncommon causes of snapping hip, the advanced imaging techniques that now give us a better understanding of the underlying mechanism, and an image-guided diagnostic and therapeutic algorithm that helps to identify surgical candidates. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.
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Neurological soft signs discriminate schizophrenia from bipolar disorder.
Rigucci, Silvia; Dimitri-Valente, Giorgia; Mandarelli, Gabriele; Manfredi, Giovanni; Comparelli, Anna; De Filippis, Sergio; Gherardelli, Simona; Bersani, Giuseppe; Girardi, Paolo; Ferracuti, Stefano
2014-03-01
Although neurological soft signs have been consistently described in patients with schizophrenia, their diagnostic specificity is not well clarified. To test the hypothesis that neurological soft signs are specifically related to schizophrenia, we examined 305 subjects (patients with schizophrenia-spectrum disorder, n=167; patients with bipolar I disorder, n=88; controls, n=50). Neurological soft signs were assessed using the Neurological Evaluation Scale (NES). Multiple logistic regression analysis was used to compute the diagnostic predictive power of neurological soft signs. Patients in the schizophrenia-spectrum disorder group were found to have significantly greater neurological impairment (NES total score=23.9, standard deviation [SD] 11.2) than those in the bipolar disorder group (NES total score=18.2, SD 7.6; p<0.001). Neurological functioning was closely associated with psychopathology (all p<0.001). The NES total score reliably distinguished patients with schizophrenia spectrum disorders from those with bipolar disorder in 68.7% of the cases (p<0.001). Moreover, a particular set of neurological soft signs showed specificity for the schizophrenia-spectrum disorder diagnostic group. Our findings suggest that schizophrenia and bipolar disorder can be distinguished in terms of neurological impairment. Furthermore, we recommend the utility of neurological soft signs as a useful, quantifiable, sensitive, and inexpensive tool for the diagnostic work-up of schizophrenia.
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Williams, Emma L; Bagg, Eleanor A L; Mueller, Michael; Vandrovcova, Jana; Aitman, Timothy J; Rumsby, Gill
2015-01-01
Definitive diagnosis of primary hyperoxaluria (PH) currently utilizes sequential Sanger sequencing of the AGXT, GRPHR, and HOGA1 genes but efficacy is unproven. This analysis is time-consuming, relatively expensive, and delays in diagnosis and inappropriate treatment can occur if not pursued early in the diagnostic work-up. We reviewed testing outcomes of Sanger sequencing in 200 consecutive patient samples referred for analysis. In addition, the Illumina Truseq custom amplicon system was evaluated for paralleled next-generation sequencing (NGS) of AGXT,GRHPR, and HOGA1 in 90 known PH patients. AGXT sequencing was requested in all patients, permitting a diagnosis of PH1 in 50%. All remaining patients underwent targeted exon sequencing of GRHPR and HOGA1 with 8% diagnosed with PH2 and 8% with PH3. Complete sequencing of both GRHPR and HOGA1 was not requested in 25% of patients referred leaving their diagnosis in doubt. NGS analysis showed 98% agreement with Sanger sequencing and both approaches had 100% diagnostic specificity. Diagnostic sensitivity of Sanger sequencing was 98% and for NGS it was 97%. NGS has comparable diagnostic performance to Sanger sequencing for the diagnosis of PH and, if implemented, would screen for all forms of PH simultaneously ensuring prompt diagnosis at decreased cost. PMID:25629080
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Ultrasound in the investigation of posterior compartment vaginal prolapse and obstructed defecation.
Dietz, H P; Beer-Gabel, M
2012-07-01
Recent developments in diagnostic imaging have made gynecologists, colorectal surgeons and gastroenterologists realize as never before that they share a common interest in anorectal and pelvic floor dysfunction. While we often may be using different words to describe the same phenomenon (e.g. anismus/vaginismus) or attributing different meanings to the same words (e.g. rectocele), we look after patients with problems that transcend the borders of our respective specialties. Like no other diagnostic modality, imaging helps us understand each other and provides new insights into conditions we all need to learn to investigate better in order to improve clinical management. In this review we attempt to show what modern ultrasound imaging can contribute to the diagnostic work-up of patients with posterior vaginal wall prolapse, obstructed defecation and rectal intussusception/prolapse. In summary, it is evident that translabial/perineal ultrasound can serve as a first-line diagnostic tool in women with such complaints, replacing defecation proctography and MR proctography in a large proportion of female patients. This is advantageous for the women themselves because ultrasound is much better tolerated, as well as for healthcare systems since sonographic imaging is much less expensive. However, there is a substantial need for education, which currently remains unmet. Copyright © 2012 ISUOG. Published by John Wiley & Sons, Ltd.
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Creatine deficiency syndromes.
Schulze, Andreas
2013-01-01
The lack of creatine in the central nervous system causes a severe but treatable neurological disease. Three inherited defects, AGAT, GAMT, and CrT deficiency, compromising synthesis and transport of creatine have been discovered recently. Together these so-called creatine deficiency syndromes (CDS) might represent the most frequent metabolic disorders with a primarily neurological phenotype. Patients with CDS present with global developmental delays, mental retardation, speech impairment especially affecting active language, seizures, extrapyramidal movement disorder, and autism spectrum disorder. The two defects in the creatine synthesis, AGAT and GAMT, are autosomal recessive disorders. They can be diagnosed by analysis of the creatine, guanidinoacetate, and creatinine in body fluids. Treatment is available and, especially when introduced in infancy, has a good outcome. The defect of creatine transport, CrT, is an X-linked condition and perhaps the most frequent reasons for X-linked mental retardation. Diagnosis is made by an increased ratio of creatine to creatinine in urine, but successful treatment still needs to be explored. CDS are under-diagnosed because easy to miss in standard diagnostic workup. Because CDS represent a frequent cause of cognitive and neurological impairment that is treatable they warrant consideration in the workup for genetic mental retardation syndromes, for intractable seizure disorders, and for neurological diseases with a predominant lack of active speech. Copyright © 2013 Elsevier B.V. All rights reserved.
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Bossuyt, Veerle; Buza, Natalia; Ngo, Nhu T; Much, Melissa A; Asis, Maria C; Schwartz, Peter E; Hui, Pei
2013-09-01
A 46-year-old woman presented with endometrial cells on a pap smear and underwent endometrial curettage. The specimen revealed secretory endometrium and a possible endometrial polyp. In addition, a single 4 mm fragment of well-differentiated adenocarcinoma was found. Tissue identity DNA genotyping was performed and the adenocarcinoma tissue fragment showed a drastically different allelic pattern from that of the background endometrium. To confirm tissue contamination, genotyping of three other tumor specimens-probable sources for a contaminant-was performed but failed to identify a match. Without confirmation of contamination, a second endometrial curettage was obtained from the patient, in which similar adenocarcinoma tissue was once again found. Further workup demonstrated that the patient had a microsatellite unstable (MSI) endometrial adenocarcinoma by immunohistochemistry and molecular testing. The patient subsequently underwent staging surgery, which revealed an early-stage, well-differentiated endometrioid adenocarcinoma. This case study illustrates an uncommon, yet important caveat of tissue identity testing by DNA genotyping, where MSI instability can significantly alter the allelic pattern of DNA polymorphisms in the tumor genome, leading to erroneous conclusion regarding the tissue identity. Awareness of this phenomenon is crucial for a molecular pathologist to avoid interpretation errors of tissue identity testing in a cancer diagnostic workup.
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Nuzzo, A; Corcos, O
2017-09-01
Mesenteric ischemia is a gut and life-threatening, medical and surgical, digestive and vascular emergency. Mesenteric ischemia is the result of an arterial or venous occlusion, a vasospasm secondary to low-flow states in intensive care patients, aortic clamping during vascular surgery or intestinal transplantation. Progression towards mesenteric infarction and its complications is unpredictable and correlates with high rates of mortality or a high risk of short bowel syndrome in case of survival. Thus, mesenteric ischemia should be diagnosed and treated at an early stage, when gut injury is still reversible. Diagnostic workup lacks sensitive and specific clinical and biological marker. Consequently, diagnosis and effective therapy can be achieved by a high clinical suspicion and a specific multimodal management: the gut and lifesaving strategy. Based on the model of ischemic stroke centers, the need for a multidisciplinary and expert 24/24 emergency care has led, in 2016, to the inauguration of the first Intestinal Stroke Center (Structure d'urgences vasculaires intestinales [SURVI]) in France. This review highlights the pathophysiological features of chronic and acute mesenteric ischemia, as well as the diagnosis workup and the therapeutic management developed in this Intestinal Stroke Center. Copyright © 2017 Société Nationale Française de Médecine Interne (SNFMI). Published by Elsevier SAS. All rights reserved.
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Hausteiner-Wiehle, C; Sokollu, F
2011-01-01
In order to reconceptualize somatoform disorders (SFDs), the psychological characteristics of SFD patients are increasingly investigated. The cognitive style of magical thinking (MT) has not been studied so far in patients with SFDs. In a cross-sectional study, 201 allergy workup patients were interviewed using the Structured Clinical Interview for DSM-IV; they answered a set of self-report questionnaires including the Schizotypal Personality Questionnaire subscale for MT and the Patient Health Questionnaire (PHQ). The expression of MT was explored in 61 patients with SFDs compared to 140 patients without SFDs. Patients with SFDs reached higher scores of MT, also when controlled for gender, depression, and anxiety. In particular, they stated more frequently that they were believers in telepathy (64 vs. 44%) and clairvoyance (43 vs. 16%). MT correlated only weakly with somatization/somatic symptom severity, depression, and anxiety. Among allergy workup patients with SFDs we found considerable MT. This indicates that SFD patients may tend to mistake correlation for causality in a more general way, and not just in an illness-related context. The relation to indicators of illness severity (somatic symptom severity/somatization, depression, and anxiety) was relatively weak. Possible implications for research, diagnostics, and therapy are discussed. Copyright © 2011 S. Karger AG, Basel.
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Exploring Situational Awareness in Diagnostic Errors in Primary Care
Singh, Hardeep; Giardina, Traber Davis; Petersen, Laura A.; Smith, Michael; Wilson, Lindsey; Dismukes, Key; Bhagwath, Gayathri; Thomas, Eric J.
2013-01-01
Objective Diagnostic errors in primary care are harmful but poorly studied. To facilitate understanding of diagnostic errors in real-world primary care settings using electronic health records (EHRs), this study explored the use of the Situational Awareness (SA) framework from aviation human factors research. Methods A mixed-methods study was conducted involving reviews of EHR data followed by semi-structured interviews of selected providers from two institutions in the US. The study population included 380 consecutive patients with colorectal and lung cancers diagnosed between February 2008 and January 2009. Using a pre-tested data collection instrument, trained physicians identified diagnostic errors, defined as lack of timely action on one or more established indications for diagnostic work-up for lung and colorectal cancers. Twenty-six providers involved in cases with and without errors were interviewed. Interviews probed for providers' lack of SA and how this may have influenced the diagnostic process. Results Of 254 cases meeting inclusion criteria, errors were found in 30 (32.6%) of 92 lung cancer cases and 56 (33.5%) of 167 colorectal cancer cases. Analysis of interviews related to error cases revealed evidence of lack of one of four levels of SA applicable to primary care practice: information perception, information comprehension, forecasting future events, and choosing appropriate action based on the first three levels. In cases without error, the application of the SA framework provided insight into processes involved in attention management. Conclusions A framework of SA can help analyze and understand diagnostic errors in primary care settings that use EHRs. PMID:21890757
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Schwanomma From Cervical Sympathetic Chain Ganglion - A Rare Presentation.
Asma, A Affee; Kannah, E
2015-10-01
Schwanommas arising from cervical sympathetic chain are tumours that are rare in occurrence. These lesions are usually difficult to differentiate from a vagal schwanomma and a carotid body tumour during the initial workup. In this report, a rarely seen huge cervical sympathetic chain schwanomma case with partial Horner's syndrome is being presented in detail, which to our known knowledge, is one of the few cases reported in literature.
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Bone marrow involvement is rare in superficial gastric mucosa-associated lymphoid tissue lymphoma.
Park, Jae Yong; Kim, Sang Gyun; Kim, Joo Sung; Jung, Hyun Chae
2016-01-01
The initial staging work-up of gastric mucosa-associated lymphoid tissue (MALT) lymphoma includes bone marrow examination. Since gastric MALT lymphoma is mostly detected in early stages with the national cancer screening programme in Korea, bone marrow is rarely involved. To investigate the incidence of bone marrow involvement in gastric MALT lymphomas and the role of bone marrow examination for an initial staging work-up. Patients diagnosed with gastric MALT lymphoma at Seoul National University Hospital from January 2005 to July 2014 were enrolled. Clinical databases of the patients were retrospectively reviewed. Out of 105 patients, 91 (86.7%) were classified as stage IE1. Among these patients, 78 patients with Helicobacter pylori infection underwent eradication therapy, and complete remission was achieved in 74 cases (94.9%). Twelve out of 13 patients (92.3%) without H. pylori infection underwent radiotherapy or surgery and all achieved complete remission. Bone marrow involvement was proven in only one patient (1.0%). Bone marrow involvement was rare in patients with only superficial gastric MALT lymphoma without extragastric invasion. Further studies are warranted to identify the risk factors of bone marrow involvement in gastric MALT lymphoma. Copyright © 2015 Editrice Gastroenterologica Italiana S.r.l. Published by Elsevier Ltd. All rights reserved.
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Hypercalcemia in a 55-year-old male.
Mayo, Russell
2005-01-01
A 55-year-old male presented to the AHEC Southwest Family Medicine Residency inpatient medicine service at Wadley Regional Medical Center in Texarkana, Texas, with a recent history of decreased level of consciousness. He was a resident of a local nursing home because of several chronic illnesses. During the initial evaluation in the emergency department, he was noted to have a serum calcium level of 13.8 mg/dL. A repeat level was 14.2 mg/dL. He was admitted to investigate the change in mental status and to initiate the work-up and treatment of hypercalcemia.
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Karimbayev, Kidirali; Dzumanazarov, Nazarbek; Akhaibekov, Mukhtar; Berdikulov, Nurzhan; Karimbayev, Abay; Mustafayev, Assanaly
2018-05-07
Pelvic dystopia of rudimentary multicystic dysplastic kidney as a rare cause of bedwetting in children. We report the case of a 14-year-old Kazakh girl who presented with difficulty in starting the stream of urine and intermittent interruption of the urinary stream while voiding as well as bedwetting, caused by a rare congenital disease (pelvic dystopia of rudimentary multicystic dysplastic kidney). The diagnostic workup, differential diagnosis, and management, and a review of the literature are presented. Persistent since she was 2 years old, bedwetting was stressful for both the parents and child. Initially detected radiologically and endoscopically, a bladder mass was thought suspicious for ureterocele, papilloma, or mixed tumor of the urinary bladder, but surprisingly, turned out to be a pelvic dystopia of the rudimentary multicystic dysplastic kidney. Transvesical excision of this mass was performed. The purpose of this case report is to draw attention to the fact that a persistent case of bedwetting which does not respond to conventional therapy should be subject to further examinations to exclude surgical causes of the disease.
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Ferri, Lorenzo; Filardi, Marco; Moresco, Monica; Pizza, Fabio; Vandi, Stefano; Antelmi, Elena; Toni, Francesco; Zucchelli, Mino; Pierangeli, Giulia; Plazzi, Giuseppe
2017-01-01
We report the case of a 14-year-old girl with a wide non-compressive pineal cyst, associated with the inability to control her sleep-wake schedule. Actigraphic monitoring showed a 24-hour free-running disorder (tau 26.96 hours). A 24-hour serum melatonin curve assay, with concomitant video-polysomnographic and body-core temperature monitoring, was performed. Melatonin curve showed a blunted nocturnal peak, lower total quantity of melatonin, and prolonged melatonin secretion in the morning, with normal temperature profile and sleep parameters. Treatment with melatonin up to 14 mg at bedtime was initiated with complete realignment of the sleep-wake rhythm (tau 23.93 hours). The role of the pineal cyst in the aforementioned alteration of melatonin secretion and free-running disorder remains controversial, but our case supports the utility of monitoring sleep/wake, temperature, and melatonin rhythms in the diagnostic work-up of pineal cysts associated with free-running disorder. Citation: Ferri L, Filardi M, Moresco M, Pizza F, Vandi S, Antelmi E, Toni F, Zucchelli M, Pierangeli G, Plazzi G. Non-24-hour sleep-wake rhythm disorder and melatonin secretion impairment in a patient with pineal cyst. J Clin Sleep Med. 2017;13(11):1355–1357. PMID:28992833
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Long-term management of IPF with pirfenidone - a clinical case study with 5 years follow-up.
Richeldi, L; Sgalla, G; Cerri, S
2013-09-01
Idiopathic pulmonary fibrosis (IPF) is a progressively fibrotic interstitial lung disease that is associated with a median survival of 2-5 years from initial diagnosis. To date, the search for an effective treatment has involved numerous clinical trials of investigational agents but without significant success. Nevertheless, research over the past 10 years has provided us with a wealth of information on its histopathology, diagnostic work-up, and a greater understanding of its pathophysiology. Specifically, IPF is no longer thought to be a predominantly pro-inflammatory disorder. Rather, the fibrosis in IPF is increasingly understood to be the result of a fibroproliferative and aberrant wound healing cascade. The development of therapeutic targets has therefore shifted in accordance with this paradigm change. Emerging clinical data from recently published and ongoing trials investigating new potential pharmacological agents should be considered in the routine clinical management of these patients. Based upon encouraging results from randomised-controlled trials showing a positive effect in slowing decline in pulmonary function and reducing disease progression, pirfenidone was approved in 2011 as the first treatment in patients with IPF. This case study describes the clinical course of a patient enrolled into the Phase III and open-label extension studies of pirfenidone.
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Krug, Sebastian; Boch, Michael; Rexin, Peter; Pfestroff, Andreas; Gress, Thomas; Michl, Patrick; Rinke, Anja
2016-06-27
Pulmonary neuroendocrine tumors (NET) form a heterogeneous group of rare diseases. In these tumors, paraneoplastic syndromes have been described to drive the course of the disease, among them acromegaly induced by paraneoplastic secretion of growth hormone-releasing hormone (GHRH). We report the case of a 43 years old patient initially diagnosed with acromegaly accompanied by weight gain and acral enlargement. Subsequently, further diagnostic work-up identified a solitary pulmonary neuroendocrine tumor (NET). Laboratory tests revealed markedly increased growth hormone (GH) and insulin-like growth factor 1 (IGF-1) without GHRH elevation in the absence of pituitary pathologies confirming the paraneoplastic origin of clinical presentation with acromegaly. Curative surgery was performed leading to normalization of the elevated hormone levels and improvement of the clinical symptoms. Immunohistochemically, a typical carcinoid (TC) was seen with low proliferation index and abundant IGF-1 expression. The association of acromegaly and pulmonary NET has only rarely been reported. We present an individual case of paraneoplastic GH- and IGF-1 secretion in a patient with pulmonary NET. Based on their rarity, the knowledge of paraneoplastic syndromes occurring in patients with pulmonary NET such as acromegaly due to paraneoplastic GH- and IGF-1 secretion is mandatory to adequately diagnose and treat these patients.
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Cytologic evaluation of cervical lymph node metastases from cancers of unknown primary origin.
Pusztaszeri, Marc P; Faquin, William C
2015-01-01
Fine-needle aspiration biopsy (FNAB) is often the first diagnostic procedure performed in patients with head and neck (HN) masses. Metastatic squamous cell carcinoma (SCC) to cervical lymph nodes is by far the most common malignancy aspirated in the HN, but in approximately 3-10% of patients, a primary tumor will not be found even after complete clinico-radiological workup. Several HN cancers are associated with oncogenic viruses, including HPV-associated SCC and EBV-associated nasopharyngeal carcinoma (NPC). While the primary tumor is sometimes small or undetectable, patients often present initially with cervical lymph node metastases. HPV-associated SCC and EBV-associated NPC are typically non-keratinizing carcinomas that can mimic several other poorly differentiated HN cancers by FNAB but have a significantly better prognosis. Therefore, the precise classification of the metastatic disease in the FNAB material is very useful since it can facilitate the subsequent location of the primary tumor, and it can provide prognostic and therapeutic information as well. In this review, we discuss the major entities that can present as a metastatic cancer of unknown primary in cervical lymph node other than supraclavicular, including their cytologic features and the role of ancillary studies. Copyright © 2014 Elsevier Inc. All rights reserved.
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Phenotypic presentation of chronic cough in children
2017-01-01
Chronic cough in children is increasingly defined as a cough that lasts more than four weeks. It is recognized as a different entity than cough in adults. As a result, the diagnostic approach and management of chronic cough in children are no longer extrapolated from adult guidelines. These differences are attributed to the various characteristics of the respiratory tract, immunological system and nervous system in children. Specific paediatric guidelines and algorithms for chronic cough are now widely applied. Post-infectious cough, asthma, bronchiectasis, malacia and protracted bacterial bronchitis (PBB) appear to be the major causes of cough in young children. By adolescence, the causes of cough are more likely to be similar to those in adults, namely, gastroesophageal reflux, asthma, and upper airway syndrome. In a primary setting, it is essential to investigate the underlying disease entity that initiates and sustains chronic cough. The use of cough management protocols or algorithms improves clinical outcomes and should differ depending on the associated characteristics of the cough and the child’s clinical history. Performing a thorough history and physical examination is crucial to starting an individualised approach. A correct interpretation of the phenotypic presentation can be translated into guidance for workup. This approach will be helpful for adequate management without the risk of inappropriate investigations or inadequate treatment. PMID:28523136
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[Eye and cat scratch disease: A case series].
Deschasse, C; Bielefeld, P; Muselier, A; Bour, J B; Besancenot, J F; Garcher, C C; Bron, A M
2016-02-01
Cat scratch disease is a pleiomorphic condition, sometimes with isolated ophthalmic involvement. We report the clinical observations of seven cases with ophthalmologic manifestations of cat scratch disease. There were seven patients, with a median age of 52 years, of whom five were women and three had unilateral involvement. Six exhibited Leber's stellate neuroretinitis, an incomplete syndrome in two cases, and one associated with chorioretinal foci. One patient had isolated retinal infiltrates. The diagnosis of cat scratch disease was confirmed by Bartonella henselae serology, positive in all cases. All patients received treatment with doxycycline. Ocular complications (with optic atrophy and macular retinal pigment epithelial changes) were noted in five cases. Ocular bartonellosis is an atypical clinical form. It requires a directed ancillary work-up with serology or PCR, which has the peculiarity of being highly specific if not very sensitive. Treatment is above all preventive. Antibiotics may be initiated. Cat scratch disease must be excluded in the work-up of posterior uveitis. Copyright © 2016 Elsevier Masson SAS. All rights reserved.
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Angiotensin-converting Enzyme as a Predictor of Extrathoracic Involvement of Sarcoidosis.
Yasar, Zehra; Özgül, Mehmet Akif; Cetinkaya, Erdoğan; Kargi, Aysel; Gül, Şule; Talay, Fahrettin; Tanriverdi, Elif; Dincer, H Erhan
2016-01-18
Sarcoidosis is a multisystem disease, with extrathoracic involvement occurring in 25-50% of patients. Multi-organ involvement is often associated with a more chronic and severe course. The value of 18F-fluorodeoxyglucose positron emission tomography/computed tomography (FDG-PET/CT) in diagnosing extrathoracic involvement in sarcoidosis has been demonstrated; however, because of the radiation dose and high cost, indications for its use must be well defined. Angiotensin-converting enzyme (ACE) is produced by active granuloma cells; thus, serum ACE (sACE) levels may reflect the total granuloma load. In this retrospective study, we evaluated the diagnostic value of sACE in the detection of extrathoracic involvement in sarcoidosis. 43 patients with biopsy-proven sarcoidosis underwent FDG-PET/CT during the initial workup. Positive findings were classified as thoracic and/or extrathoracic. The diagnostic value of sACE was estimated using sensitivity, specificity, and area under the receiver operating characteristic curves (AUCs). Of the 43 patients studied, 17 (39.7%) had extrathoracic involvement. In this group, sACE values were higher than in patients without extrathoracic involvement (331 vs. 150, p=0.002) and correlated positively with extrathoracic involvement (R:0.532 p=0.02). Receiver operator characteristic curve analysis revealed an AUC of 0.816 [95% confidence interval: 0.669-0.963, p=0.002], 70.6% sensitivity and 80% specificity at the sACE cut-off value. In sarcoidosis, extrathoracic involvement may be life threatening or indicative of poor outcome. sACE levels are easily determined and may predict extrathoracic involvement. In patients with sarcoidosis, sACE levels can be used to better define those who would benefit from FDG-PET/CT examination to detect extrathoracic involvement.
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Hegarty, Robert; Hadzic, Nedim; Gissen, Paul; Dhawan, Anil
2015-10-01
Acute liver failure (ALF) in children is a rare condition that is often fatal without liver transplantation. The diagnostic work-up is complex, and the etiology is unidentified in up to half of patients, making decisions like therapeutic transplantation extremely difficult. We collected clinical, laboratory, and outcome data on all patients under 5 years of age who were admitted between January 2001 and December 2011 to King's College Hospital with ALF secondary to an inherited metabolic disease (IMD), a common cause of pediatric acute liver failure. Thirty-six of 127 children with ALF had a metabolic etiology: galactosemia (17); mitochondrial respiratory chain disorder (MRCD, 7); ornithine transcarbamylase (OTC) deficiency (4); tyrosinemia type 1 (4); Niemann-Pick disease type C (NPC, 3); and congenital disorder of glycosylation type 1b (1). Seven children died: MRCD (4) and NPC (3). Four children were transplanted: OTC deficiency (1) and MRCD (3). Fifteen of 25 children followed up showed evidence of developmental delay. IMD is the most common group of disorders in this age group; indeterminate cases may yet include undiagnosed metabolic disorders; the overall survival rate is good but largely depends on diagnosis, while developmental outcome of the surviving patients is less favorable. • Up to half of children with ALF may be undiagnosed. • IMD is a common cause of pediatric acute liver failure. What is New: • Initial diagnostic clues may be gathered from the child's age and laboratory parameters. • Survival of children with IMD-related ALF is good, but developmental outcome is less favorable. • In the future, novel sequencing methods will aid in the diagnosis of disorders in which therapeutic decisions depend upon.
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Kehrmann, Jan; Chapot, Valerie; Buer, Jan; Rating, Philipp; Bornfeld, Norbert; Steinmann, Joerg
2018-05-01
The purpose of this investigation was to evaluate the performance of blood culture bottles in comparison to conventional microbiological culture techniques in detecting causative microorganisms of endophthalmitis and to determine their anti-infective susceptibility profiles. All consecutive cases with clinically suspected endophthalmitis in a university-based ophthalmology department between January 2009 and December 2016 were analysed in this retrospective comparative case series. Samples from 247 patients with suspected endophthalmitis underwent microbiological diagnostic work-up. All three culture methods were performed from 140 vitreous specimens. Vitreous fluid specimens were inoculated in blood culture bottles, aerobic and anaerobic broth solutions, and on solid media. Anti-infective susceptibility profiles were evaluated by semi-automated methods and/or gradient diffusion methods. Microorganisms were grown in 82 of 140 specimens for which all methods were performed (59%). Microorganisms were more frequently grown from blood culture bottles (55%) compared to broth solution (45%, p = 0.007) and solid media (33%, p < 0.0001). Considerable differences in the performance among culture media were detected for fungal pathogens. All grown fungi were detected by blood culture bottles (11 of 11, 100%). Broth solution recovered 64% and solid media 46% of grown fungi. No Gram-positive bacterium was resistant to vancomycin and all Gram-negative pathogens except for one isolate were susceptible to third-generation cephalosporins. In suspected endophthalmitis patients, blood culture bottles have a higher overall pathogen detection rate from vitreous fluid compared to conventional microbiological media, especially for fungi. The initial intravitreal antibiotic therapy with vancomycin plus third-generation cephalosporins appears to be an appropriate treatment approach for bacterial endophthalmitis.
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Antiepileptic treatment in paediatric oncology--an interdisciplinary challenge.
Tibussek, D; Distelmaier, F; Schönberger, S; Göbel, U; Mayatepek, E
2006-01-01
Epileptic seizures are a common and clinically relevant problem in paediatric oncology. Attributable to the heterogeneity of this group of patients and a number of possible comorbidities antiepileptic treatment in paediatric oncology poses a number of diagnostic and therapeutic challenges. This requires a close interdisciplinary approach to the seizing child or adolescent. A prompt and detailed diagnostic work-up is needed in every case in order to establish the diagnosis and, equally important, to detect secondary aetiological factors, e. g. epileptogenic drugs or any acute underlying pathology, such as metabolic or toxic encephalopathies, CNS-infections or cerebrovascular events. This might offer the opportunity for a specific causative treatment and thus prevent unnecessary long-term antiepileptic drug (AED) treatment. If AED treatment is initiated several aspects have to be taken into account. Most importantly, AEDs and chemotherapeutic drugs (CTDs) may interact. Depending on the comedication this may result in reduced tumour or seizure control or unexpected toxicity of AEDs or CTDs. Understanding these interactions will allow to anticipate clinically relevant adverse effects. AED may be further complicated by side-effects, some of them of particular concern for children or adolescents, such as cognitive effects, myelotoxicity, serious rashes, endocrinological disturbances, and many more. Beside critically questioning the need for AED treatment it is therefore important to prefer AED with a good safety-profile in this population. Enzyme-inducing and inhibiting AED should be avoided if possible. Preliminary studies indicate that gabapentin and levetiracetam may provide good options in terms of efficacy and safety. However, more properly designed clinical studies are warranted to raise the level of evidence for robust clinical recommendations. Until that time, clinicians will need to continue to question current policies and adapt their daily practice to evolving scientific data.
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Kim, Youn-Jung; Min, Sun-Yang; Lee, Dong Hun; Lee, Byung Kook; Jeung, Kyung Woon; Lee, Hui Jai; Shin, Jonghwan; Ko, Byuk Sung; Ahn, Shin; Nam, Gi-Byoung; Lim, Kyoung Soo; Kim, Won Young
2017-03-13
The authors aimed to evaluate the role of post-resuscitation electrocardiogram (ECG) in patients showing significant ST-segment changes on the initial ECG and to provide useful diagnostic indicators for physicians to determine in which out-of-hospital cardiac arrest (OHCA) patients brain computed tomography (CT) should be performed before emergency coronary angiography. The usefulness of immediate brain CT and ECG for all resuscitated patients with nontraumatic OHCA remains controversial. Between January 2010 and December 2014, 1,088 consecutive adult nontraumatic patients with return of spontaneous circulation who visited the emergency department of 3 tertiary care hospitals were enrolled. After excluding 245 patients with obvious extracardiac causes, 200 patients were finally included. The patients were categorized into 2 groups: those with ST-segment changes with spontaneous subarachnoid hemorrhage (SAH) (n = 50) and those with OHCA of suspected cardiac origin group (n = 150). The combination of 4 ECG characteristics including narrow QRS (<120 ms), atrial fibrillation, prolonged QTc interval (≥460 ms), and ≥4 ST-segment depressions had a 66.0% sensitivity, 80.0% specificity, 52.4% positive predictive value, and 87.6% negative predictive value for predicting SAH. The area under the receiver-operating characteristic curves in the post-resuscitation ECG findings was 0.816 for SAH. SAH was observed in a substantial number of OHCA survivors (25.0%) with significant ST-segment changes on post-resuscitation ECG. Resuscitated patients with narrow QRS complex and any 2 ECG findings of atrial fibrillation, QTc interval prolongation, or ≥4 ST-segment depressions may help identify patients who need brain CT as the next diagnostic work-up. Copyright © 2017 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.
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Sequential analysis of sperm functional aspects involved in fertilisation: a pilot study.
Abu, D A H; Franken, D R; Hoffman, B; Henkel, R
2012-05-01
The development of diagnostic techniques in andrology as a second level of approach to the diagnosis of male factor infertility has enthused the focus of researchers on the development of a sequential diagnostic programme for these men. Semen samples of 78 men form couples undergoing in vitro fertilisation therapy were used in the study. The semen samples were used to test sperm functional aspects known to interfere with fertilisation. These tests included semen profile, DNA integrity, apoptosis, chromatin packaging, acridin orange staining, zona binding capacity, zona-induced acrosome reaction (AR). Results were correlated with fertilisation outcome. Statistical analyses of the recorded data were carried out using a logistic regression analysis model on all sperm functional tests. A negative and significant association with the fertilisation rates was recorded for DNA damage (r = -0.56; P ≤ 0.0005). A positive significant correlation was recorded between fertilisation rates and sperm with normal DNA (r = -0.57, P ≤ 0.0004), and zona-induced AR (r = 0.33, P ≤ 0.002). Diagnostic andrology can be regarded as a mandatory part of the male factor patient's work-up schedule to assist clinicians with the most suitable therapeutic modality to follow. © 2011 Blackwell Verlag GmbH.
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Does probability guided hysteroscopy reduce costs in women investigated for postmenopausal bleeding?
Breijer, M C; van Hanegem, N; Visser, N C M; Verheijen, R H M; Mol, B W J; Pijnenborg, J M A; Opmeer, B C; Timmermans, A
2015-01-01
To evaluate whether a model to predict a failed endometrial biopsy in women with postmenopausal bleeding (PMB) and a thickened endometrium can reduce costs without compromising diagnostic accuracy. Model based cost-minimization analysis. A decision analytic model was designed to compare two diagnostic strategies for women with PMB: (I) attempting office endometrial biopsy and performing outpatient hysteroscopy after failed biopsy and (II) predicted probability of a failed endometrial biopsy based on patient characteristics to guide the decision for endometrial biopsy or immediate hysteroscopy. Robustness of assumptions regarding costs was evaluated in sensitivity analyses. Costs for the different strategies. At different cut-offs for the predicted probability of failure of an endometrial biopsy, strategy I was generally less expensive than strategy II. The costs for strategy I were always € 460; the costs for strategy II varied between € 457 and € 475. At a 65% cut-off, a possible saving of € 3 per woman could be achieved. Individualizing the decision to perform an endometrial biopsy or immediate hysteroscopy in women presenting with postmenopausal bleeding based on patient characteristics does not increase the efficiency of the diagnostic work-up.
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Chen, Xiao-Yang
2007-01-01
In contemporary China, physicians tend to require more diagnostic work-ups and prescribe more expensive medications than are clearly medically indicated. These practices have been interpreted as defensive medicine in response to a rising threat of potential medical malpractice lawsuits. After outlining recent changes in Chinese malpractice law, this essay contends that the overuse of expensive diagnostic and therapeutic interventions cannot be attributed to malpractice concerns alone. These practice patterns are due as well, if not primarily, to the corruption of medical decision-making by physicians being motivated to earn supplementary income, given the constraints of an ill-structured governmental policy by the over-use of expensive diagnostic and therapeutic interventions. To respond to these difficulties of Chinese health care policy, China will need not only to reform the particular policies that encourage these behaviors, but also to nurture a moral understanding that can place the pursuit of profit within the pursuit of virtue. This can be done by drawing on Confucian moral resources that integrate the pursuit of profit within an appreciation of benevolence. It is this Confucian moral account that can formulate a medical care policy suitable to China's contemporary market economy.
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Software for enhanced video capsule endoscopy: challenges for essential progress.
Iakovidis, Dimitris K; Koulaouzidis, Anastasios
2015-03-01
Video capsule endoscopy (VCE) has revolutionized the diagnostic work-up in the field of small bowel diseases. Furthermore, VCE has the potential to become the leading screening technique for the entire gastrointestinal tract. Computational methods that can be implemented in software can enhance the diagnostic yield of VCE both in terms of efficiency and diagnostic accuracy. Since the appearance of the first capsule endoscope in clinical practice in 2001, information technology (IT) research groups have proposed a variety of such methods, including algorithms for detecting haemorrhage and lesions, reducing the reviewing time, localizing the capsule or lesion, assessing intestinal motility, enhancing the video quality and managing the data. Even though research is prolific (as measured by publication activity), the progress made during the past 5 years can only be considered as marginal with respect to clinically significant outcomes. One thing is clear-parallel pathways of medical and IT scientists exist, each publishing in their own area, but where do these research pathways meet? Could the proposed IT plans have any clinical effect and do clinicians really understand the limitations of VCE software? In this Review, we present an in-depth critical analysis that aims to inspire and align the agendas of the two scientific groups.
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Multiomics tools for the diagnosis and treatment of rare neurological disease.
Crowther, L M; Poms, M; Plecko, Barbara
2018-05-01
Conventional workup of rare neurological disease is frequently hampered by diagnostic delay or lack of diagnosis. While biomarkers have been established for many neurometabolic disorders, improved methods are required for diagnosis of previously unidentified or underreported causes of rare neurological disease. This would result in a higher diagnostic yield and increased patient numbers required for interventional studies. Recent studies using next-generation sequencing and metabolomics have led to identification of novel disease-causing genes and biomarkers. This combined approach can assist in overcoming challenges associated with analyzing and interpreting the large amount of data obtained from each technique. In particular, metabolomics can support the pathogenicity of sequence variants in genes encoding enzymes or transporters involved in metabolic pathways. Moreover, metabolomics can show the broader perturbation caused by inborn errors of metabolism and identify a metabolic fingerprint of metabolic disorders. As such, using "omics" has great potential to meet the current needs for improved diagnosis and elucidation of rare neurological disease.
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Diagnosis and Management of Childhood Headache.
Gofshteyn, Jacqueline S; Stephenson, Donna J
2016-02-01
Headache is one of the most common chief complaints seen in the pediatrician's office. Oftentimes, identifying the etiology of headache and differentiating primary and secondary causes can present a diagnostic conundrum. Understanding the most common causes of primary and secondary headache is vital to making a correct diagnosis. Here we review the typical presentations of the most common primary headache disorders and the approach to evaluation of the pediatric patient presenting with headache. Diagnostic workup, including the key features to elicit on physical examination, when to order head imaging, and the use of other ancillary tests, is discussed. Current treatment modalities and their indications are reviewed. We will also describe some of the new, emerging therapies that may alter the way we manage headache in the pediatric population. Headache can, at times, be a frustrating symptom seen in the pediatrician's office, but here we hope to better elucidate the approach to evaluation, management, and treatment as well as provide some hope in regards to more effective upcoming therapies. Copyright © 2016 Mosby, Inc. All rights reserved.
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Heuts, Samuel; Maessen, Jos G.
2016-01-01
For the past decades, surgeries have become more complex, due to the increasing age of the patient population referred for thoracic surgery, more complex pathology and the emergence of minimally invasive thoracic surgery. Together with the early detection of thoracic disease as a result of innovations in diagnostic possibilities and the paradigm shift to personalized medicine, preoperative planning is becoming an indispensable and crucial aspect of surgery. Several new techniques facilitating this paradigm shift have emerged. Pre-operative marking and staining of lesions are already a widely accepted method of preoperative planning in thoracic surgery. However, three-dimensional (3D) image reconstructions, virtual simulation and rapid prototyping (RP) are still in development phase. These new techniques are expected to become an important part of the standard work-up of patients undergoing thoracic surgery in the future. This review aims at graphically presenting and summarizing these new diagnostic and therapeutic tools PMID:29078505
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MRI criteria for MS in patients with clinically isolated syndromes.
Montalban, X; Tintoré, M; Swanton, J; Barkhof, F; Fazekas, F; Filippi, M; Frederiksen, J; Kappos, L; Palace, J; Polman, C; Rovaris, M; de Stefano, N; Thompson, A; Yousry, T; Rovira, A; Miller, D H
2010-02-02
In recent years, criteria for the diagnosis of multiple sclerosis (MS) have changed, mainly due to the incorporation of new MRI criteria. While the new criteria are a logical step forward, they are complex and-not surprisingly-a good working knowledge of them is not always evident among neurologists and neuroradiologists. In some circumstances, several MRI examinations are needed to achieve an accurate and prompt diagnosis. This provides an incentive for continued efforts to refine the incorporation of MRI-derived information into the diagnostic workup of patients presenting with a clinically isolated syndrome. Within the European multicenter collaborative research network that studies MRI in MS (MAGNIMS), a workshop was held in London in November 2007 to review information that may simplify the existing MS diagnostic criteria, while maintaining a high specificity that is essential to minimize false positive diagnoses. New data that are now published were reviewed and discussed and together with a new proposal are integrated in this position paper.
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Computer assisted axial tomography (Emi scan) in neurologic investigation
DOE Office of Scientific and Technical Information (OSTI.GOV)
Campbell, J.K.; Baker, H.L.; Laws, E.R. Jr.
1974-01-01
Cerebral angiography, pneumoencephalography, and radioisotope brain scan with their differing diagnostic abilities have provided the neurologist and neurosurgeon with extremely valuable diagnostic techniques. It is doubtful, however, if any of these now conventional methods had the enormous impact on the practice of neurology that computer assisted axial tomography (C.A.T.) is beginning to have. Here, for the first time, is a test which, without significant risk or discomfort, can demonstrate some normal intracranial (and intraorbital) structures, can demonstrate some normal intracranial pathology and, in many cases, can make the potentially dangerous contrast studies unnecessary. After only a few months experience withmore » C.A.T. in a clinical setting, it has become obvious that there will have to be a reappraisal of the accepted investigative work-up of many conditions. While it is too early to have formulated strict criteria for the use of C.A.T., this paper is an attempt to show how the technique is proving useful in the investigation of many conditions.« less
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Pandey, Shilpa; Hakky, Michael; Kwak, Ellie; Jara, Hernan; Geyer, Carl A; Erbay, Sami H
2013-05-01
Neurovascular imaging studies are routinely used for the assessment of headaches and changes in mental status, stroke workup, and evaluation of the arteriovenous structures of the head and neck. These imaging studies are being performed with greater frequency as the aging population continues to increase. Magnetic resonance (MR) angiographic imaging techniques are helpful in this setting. However, mastering these techniques requires an in-depth understanding of the basic principles of physics, complex flow patterns, and the correlation of MR angiographic findings with conventional MR imaging findings. More than one imaging technique may be used to solve difficult cases, with each technique contributing unique information. Unfortunately, incorporating findings obtained with multiple imaging modalities may add to the diagnostic challenge. To ensure diagnostic accuracy, it is essential that the radiologist carefully evaluate the details provided by these modalities in light of basic physics principles, the fundamentals of various imaging techniques, and common neurovascular imaging pitfalls. ©RSNA, 2013.
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A rare genetic disorder causing persistent severe neonatal hypoglycaemia the diagnostic workup.
Francescato, Gaia; Salvatoni, Alessandro; Persani, Luca; Agosti, Massimo
2012-07-19
We report a case of familial glucocorticoid deficiency (FGD), a rare genetic autosomal-recessive disorder with typical hyperpigmentation of the skin and mucous membranes, severe hypoglycaemia, occasionally leading to seizures and coma, feeding difficulties, failure to thrive and infections. A newborn child was admitted, on his second day of life, to our neonatal intensive care unit because of seizures and respiratory insufficiency. Hyperpigmentation was not evident due to his Senegalese origin. The clinical presentation led us to consider a wide range of diagnostic hypothesis. Laboratory findings brought us to the diagnosis of FGD that was confirmed by molecular analysis showing an MC2R:p.Y254C mutation previously reported as causative of type 1 FGD and two novel heterozygous non-synonymous single-nucleotide polymorphisms in exon 2 and 3 of melanocortin 2 receptor accessory protein-α, whose role in the disease is currently unknown. The importance of an early collection and storage of blood samples during hypoglycaemic event is emphasised.
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Marom, Tal; Segal, David; Erlich, Tomer; Tsumi, Erez; Merin, Ofer; Lin, Guy
2014-01-01
To describe clinical and ethical dilemmas in patients presenting with head and neck (H&N) tumors to a field hospital in the "subacute" period following a typhoon. We retrospectively reviewed charts of H&N patients presenting to an integrated Israeli-Filipino medical facility, which was operated more than 11 days. Of the 1,844 adult patients examined, 85 (5 percent) presented with H&N tumors. Of those, 70 (82 percent) were females, with a mean age of 43 ± 15 years. Thyroid neoplasms were the most common tumors (68, 80 percent). Despite limited resources, we contributed to the workup and treatment of several patients. To better illustrate our dilemmas, we present four key patients, in whom we favored diagnostic/therapeutic interventions in two, and opted to defer any intervention in two. In a relief mission, despite the lack of clinical and pathological staging and questionable continuity of care, surgical interventions can be considered for therapeutic, palliative, and diagnostic purposes.
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Childhood functional abdominal pain: mechanisms and management.
Korterink, Judith; Devanarayana, Niranga Manjuri; Rajindrajith, Shaman; Vlieger, Arine; Benninga, Marc A
2015-03-01
Chronic abdominal pain is one of the most common clinical syndromes encountered in day to day clinical paediatric practice. Although common, its definition is confusing, predisposing factors are poorly understood and the pathophysiological mechanisms are not clear. The prevailing viewpoint in the pathogenesis involves the inter-relationship between changes in hypersensitivity and altered motility, to which several risk factors have been linked. Making a diagnosis of functional abdominal pain can be a challenge, as it is unclear which further diagnostic tests are necessary to exclude an organic cause. Moreover, large, well-performed, high-quality clinical trials for effective agents are lacking, which undermines evidence-based treatment. This Review summarizes current knowledge regarding the epidemiology, pathophysiology, risk factors and diagnostic work-up of functional abdominal pain. Finally, management options for children with functional abdominal pain are discussed including medications, dietary interventions, probiotics and psychological and complementary therapies, to improve understanding and to maximize the quality of care for children with this condition.
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Managing critically Ill hematology patients: Time to think differently.
Azoulay, Elie; Pène, Frédéric; Darmon, Michael; Lengliné, Etienne; Benoit, Dominique; Soares, Marcio; Vincent, Francois; Bruneel, Fabrice; Perez, Pierre; Lemiale, Virginie; Mokart, Djamel
2015-11-01
The number of patients living with hematological malignancies (HMs) has increased steadily over time. This is the result of intensive and effective treatments that also increase the probability of infiltrative, infectious or toxic life threatening event. Over the last two decades, the number of patients with HMs admitted to the ICU increased and their mortality has dropped sharply. ICU patients with HMs require an extensive diagnostic workup and the optimal use of ICU treatments to identify the reason for ICU admission and the nature of the complication that explains organ dysfunctions. Mortality of ARDS or septic shock is up to 50%, respectively. In this review, the authors share their experience with managing critically ill patients with HMs. They discuss the main aspects of the diagnostic and therapeutic management of critically ill patients with HMs and argue that outcomes have improved over time and that many classic determinants of mortality have become irrelevant. Copyright © 2015 Elsevier Ltd. All rights reserved.
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Buonacera, Agata; Stancanelli, Benedetta; Malatino, Lorenzo
2017-09-01
Some tumors are a relatively rare and amendable cause of hypertension, often associated with a higher cardiovascular morbidity and mortality, as compared with that of both general population and patients with essential hypertension. This worse prognosis is not entirely related to blood pressure increase, because the release of substances from the tumor can directly influence blood pressure behavior. Diagnostic approach is challenging and needs a deep knowledge of the different neuro-hormonal and genetic mechanisms determining blood pressure increase. Surgical tumor removal can, but not always, cause blood pressure normalization, depending on how early was tumor detection, since a long-standing history of hypertension is often associated with a much weaker effect on blood pressure. Moreover, target organ damage can be affected by the substances themselves released by the tumors as well as by tumor removal. In this review we consider the phenotype and genetic features of patients with tumor-induced hypertension and focus on their diagnostic work-up.
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Brüggen, Marie-Charlotte; Kerl, Katrin; Haralambieva, Eugenia; Schanz, Urs; Chang, Yun-Tsan; Ignatova, Desislava; Dummer, Reinhard; Cozzio, Antonio; Hoetzenecker, Wolfram; French, Lars E; Guenova, Emmanuella
2018-04-24
Rare T- or NK-cell lymphomas with cutaneous manifestation may display a highly aggressive clinical course and major diagnostic/therapeutic challenges. This report describes our experiences with different lymphomas of this rare category and the therapeutic options used. This retrospective, descriptive, monocentric, cross-sectional case study, identified 4 rare aggressive T-/NK-cell lymphomas with manifestation in the skin, which were diagnosed in a tertiary care centre over a period of 4 years. Two patients had an Epstein-Barr virus-associated extranodal NK/T-cell lymphoma and 2 patients had a primary cutaneous CD8+ aggressive epidermotropic cytotoxic T-cell lymphoma. Concomitant extracutaneous involvement was observed in 2 of all 4 patients. Two patients had fulminant disease progression and resistance to chemotherapy. Two patients underwent allogeneic haematopoietic stem cell transplantation, which resulted in one complete remission and one partial remission. This report emphasizes the importance of an early diagnostic work-up and a prompt aggressive therapeutic approach.
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Telltale signs of patient-centered diagnosis.
Millenson, Michael L
2014-01-01
A best-selling book from the mid-1980s was entitled, All I Really Need to Know I Learned in Kindergarten. Some doctors may similarly feel that well-worn epigrams from Hippocrates, Osler and others have told them all they really need to know about patient-centered care. The problem is that aphorisms and action are not one and the same. The workup for patient-centered diagnosis takes work, and there are telltale signs along the way. Effective patient engagement requires training and practice. It means incorporating patient-generated data into the diagnostic process. And it means being sensitive to new economic constraints on patients. Ensuring that diagnostic processes and decisions meet the test of patient-centeredness poses a challenge. The new criteria do not replace the professional obligation of beneficence; rather they add an additional obligation of power sharing. While that is neither simple nor easy, it promises better care for patients, a more satisfying clinical encounter and a better health care system for all.
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Geber, Christian; Baumgärtner, Ulf; Fechir, Marcel; Vogt, Thomas; Birklein, Frank; Treede, Rolf-Detlef
2011-06-01
This study evaluates the additional use of laser-evoked potentials (LEP) and quantitative sensory testing (QST) in the sensory assessment of spinal lesions. Four consecutive patients with spinal lesions verified by MRI and clinical evidence for mild spinothalamic tract involvement were included. The electrophysiological workup [somatosensory evoked potentials (SEP) and LEP] was compared to QST. Electrophysiology and QST were reassessed after about 6 months. LEP detected impaired spinothalamic tract function in 7/8 examinations. QST pointed to spinothalamic tract lesions by loss of thermal function (3/8); most frequent positive sensory signs (3/8) were paradoxical heat sensations. LEP and QST results were concordant in 6/8 examinations. SEPs were abnormal in 2/8 examinations. Congruent results between SEP and both LEP and QST were obtained in 3/8 examinations. LEP detected more deficits than any single QST parameter or their combination but additional QST allows the detection of positive sensory signs. The diagnostic gain of SEP was limited.
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Management of nipple discharge and the associated imaging findings.
Patel, Bhavika K; Falcon, Shannon; Drukteinis, Jennifer
2015-04-01
Nipple discharge is commonly encountered by health care providers, accounting for 2%-5% of medical visits by women. Because nipple discharge is the presenting symptom in 5% to 12% of breast cancers, it causes considerable anxiety for both patient and providers. Furthermore, the work-up and management of nipple discharge can be confusing. Fortunately, the cause of nipple discharge is usually benign, so the primary goal of evaluation and management is separation of patients with pathologic causes of discharge from those with benign or physiologic causes. The evaluation of nipple discharge requires a thorough history, careful physical examination, and an informed approach that selects the most suitable diagnostic modality. Primary care providers, working with their radiologists and surgeons, are well positioned to design appropriate diagnostic and management protocols to assess and treat nipple discharge. A thoughtful and prudent approach to nipple discharge should alleviate patient anxiety by efficiently and effectively defining the underlying etiology. Copyright © 2015 Elsevier Inc. All rights reserved.
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Effective communication at the point of multiple sclerosis diagnosis.
Solari, Alessandra
2014-04-01
As a consequence of the current shortened diagnostic workup, people with multiple sclerosis (PwMS) are rapidly confronted with a disease of uncertain prognosis that requires complex treatment decisions. This paper reviews studies that have assessed the experiences of PwMS in the peri-diagnostic period and have evaluated the efficacy of interventions providing information at this critical moment. The studies found that the emotional burden on PwMS at diagnosis was high, and emphasised the need for careful monitoring and management of mood symptoms (chiefly anxiety). Information provision did not affect anxiety symptoms but improved patients' knowledge of their condition, the achievement of 'informed choice', and satisfaction with the diagnosis communication. It is vital to develop and implement information and decision aids for PwMS, but this is resource intensive, and international collaboration may be a way forward. The use of patient self-assessed outcome measures that appraise the quality of diagnosis communication is also important to allow health services to understand and meet the needs and preferences of PwMS.
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Osteomyelitis and Discitis Following Translumbar Repair of a Type II Endoleak
DOE Office of Scientific and Technical Information (OSTI.GOV)
Sella, David M., E-mail: Sella.david@mayo.edu; Frey, Gregory T., E-mail: Frey.gregory@mayo.edu; Giesbrandt, Kirk, E-mail: giesbrandt.kirk@mayo.edu
2016-03-15
Here we present the case of an 80-year-old man who developed a type II endoleak following endovascular abdominal aortic aneurysm repair. Initial attempts at treating the endoleak via a transarterial approach were unsuccessful; therefore the patient underwent percutaneous translumbar endoleak embolization. Approximately 1 month following the translumbar procedure, he developed back pain, with subsequent workup revealing osteomyelitis and discitis as a complication following repair via the translumbar approach.
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Schwanomma From Cervical Sympathetic Chain Ganglion – A Rare Presentation
Asma, A. Affee
2015-01-01
Schwanommas arising from cervical sympathetic chain are tumours that are rare in occurrence. These lesions are usually difficult to differentiate from a vagal schwanomma and a carotid body tumour during the initial workup. In this report, a rarely seen huge cervical sympathetic chain schwanomma case with partial Horner’s syndrome is being presented in detail, which to our known knowledge, is one of the few cases reported in literature. PMID:26557566
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Differential diagnosis of cough: focus on lung malignancy.
Brashers, V L; Haden, K
2000-01-01
Evaluating cough in the primary care setting can be very difficult and requires a thorough look through a long list of potential differential diagnoses. The most worrisome diagnosis is that of a lung malignancy. Primary care providers must assess each patient carefully in a logical, precise manner to determine a working diagnosis for acute versus chronic cough in smokers and nonsmokers. Early detection leads to a diagnosis of lung cancer at earlier stages and may offer the only possibility of cure. This article provides primary care providers with an overview of the most common causes of cough, an algorithm to assist with the diagnosis, and a brief overview of the staging, diagnostic workup, treatment, and management of lung cancer.
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From Genetics to Genomics: A Short Introduction for Pediatric Neurologists.
Neubauer, Bernd A; Lemke, Johannes R
2016-01-01
It is estimated that in humans approximately 50% of all 22500 genes are needed for the development and maintenance of the nervous system. The introduction of high-throughput technology in genetic analysis has therefore major implications, not only for the investigation of specific disease entities but also for the diagnostic workup of single individuals with neurologic disorders of genetic origin. A short primer for clinicians is presented, addressing aspects of current developments in medical genomics. Significant findings of the last years are exemplified in an educational manner to provide a basic understanding of disease mechanisms that were unraveled by recent genomic analysis. Georg Thieme Verlag KG Stuttgart · New York.
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Breast cancer associated with type 1 neurofibromatosis.
Salemis, Nikolaos S; Nakos, Georgios; Sambaziotis, Dimitrios; Gourgiotis, Stavros
2010-10-01
The association between breast cancer and type 1 neurofibromatosis (NF1) is a rare clinical entity. We herein present the case of a 59-year-old woman, with typical clinical manifestations of NF1, who presented with a painless lump in her right breast, which she had first noticed 8 months earlier. Clinical examination and diagnostic workup were suggestive of a breast carcinoma, and a modified radical mastectomy was performed. Histopathological examination revealed a poorly differentiated invasive ductal breast carcinoma and multiple neurofibromas. The pathological staging was pT2N1a according to TNM/UICC. Delayed presentation of the patient was the result of her mistakenly identifying the breast tumor as a manifestation of NF1 neurofibromatosis.
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Pediatric schwannomatosis, a rare but distinct form of neurofibromatosis.
Thomas, Anna K; Egelhoff, John C; Curran, John G; Thomas, Bobby
2016-03-01
Schwannomatosis is the third major form of neurofibromatosis, distinct from neurofibromatosis type 2 (NF2) and type 1 (NF1). This condition is rare with a variable phenotypic presentation and complex molecular and genetic findings. In this case, a previously healthy teenager was found to have multiple spinal lesions and an enhancing right parotid mass on MRI. On extensive further work-up, this patient met the existing clinical criteria for schwannomatosis. This case report aims to review the clinical features and current diagnostic criteria for schwannomatosis and compare it to NF1 and NF2. Special emphasis will be placed on imaging features that should prompt the radiologist to suggest this rare diagnosis.
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Sternoclavicular Arthritis as a Clinical Presentation for Lyme Disease.
Ramgopal, Sriram; Rosenkranz, Margalit; Nowalk, Andrew J; Zuckerbraun, Noel S
2018-04-01
Lyme disease is caused by Borrelia burgdorferi and can lead to dermatologic, neurologic, cardiac, and musculoskeletal manifestations. The arthritis of Lyme disease is typically monoarticular, with the knee being most commonly involved. Lyme arthritis of small joints has not previously been well described. We report 3 children who presented with sternoclavicular joint swelling and who were found to have Lyme disease based on enzyme-linked immunosorbent assay and Western blot. This description of sternoclavicular Lyme arthritis highlights the importance of considering Lyme disease in the differential and diagnostic workup of new onset, small joint arthritis in patients presenting from or with travel to Lyme endemic regions. Copyright © 2018 by the American Academy of Pediatrics.
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Sickle cell-induced ischemic colitis.
Stewart, Camille L; Ménard, Geraldine E
2009-07-01
Sickle cell-induced ischemic colitis is a rare yet potentially fatal complication of sickle cell anemia. Frequent pain crises with heavy analgesia may obscure and prolong this important diagnosis. Our patient was a 29-year-old female with sickle cell disease who was admitted with left lower quadrant abdominal pain. A diagnostic workup, including chemistries, complete blood count, blood cultures, chest x-ray, computerized tomography scanning, and colonoscopy, was performed to identify the etiology of her symptoms. This case highlights the importance of differentiating simple pain crisis from more serious and life-threatening ischemic bowel. A review of the literature compares this case to others reported and gives a method for diagnosing and treating this complication of sickle cell disease.
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[Sachse internal urethrotomy: endoscopic treatment of urethral strictures].
Pfalzgraf, D; Häcker, A
2013-05-01
The most commonly used treatment modality for urethral strictures is the direct visual internal urethrotomy (DVUI) method according to Sachse. It is an effective short-term treatment, but the long-term success rate is low. A number of factors influence the outcome of DVUI including stricture location, spongiofibrosis and previous endoscopic stricture treatment. Multiple urethrotomy has a negative impact on the success rate of subsequent urethroplasty. A thorough preoperative diagnostic work-up including combined retrograde urethrogram/voiding cystourethrogram (RUG/VCUG) and urethrocystoscopy is, therefore, mandatory to allow for patient counselling regarding the risk of stricture recurrence and other treatment options. After a failed primary DVUI, subsequent urethrotomy cannot be expected to be curative.
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Tye-Din, J A; Cameron, D J S; Daveson, A J; Day, A S; Dellsperger, P; Hogan, C; Newnham, E D; Shepherd, S J; Steele, R H; Wienholt, L; Varney, M D
2015-01-01
The past decade has seen human leukocyte antigen (HLA) typing emerge as a remarkably popular test for the diagnostic work-up of coeliac disease with high patient acceptance. Although limited in its positive predictive value for coeliac disease, the strong disease association with specific HLA genes imparts exceptional negative predictive value to HLA typing, enabling a negative result to exclude coeliac disease confidently. In response to mounting evidence that the clinical use and interpretation of HLA typing often deviates from best practice, this article outlines an evidence-based approach to guide clinically appropriate use of HLA typing, and establishes a reporting template for pathology providers to improve communication of results. PMID:25827511
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Nailfold capillaroscopy in juvenile rheumatic diseases: known measures, patterns and indications.
Gerhold, K; Becker, M O
2014-01-01
Nailfold capillaroscopy has become an established method in adults for the evaluation of structural abnormalities of the microcirculation associated with rheumatic disease. It is a cornerstone for the diagnostic work-up of patients with Raynaud's phenomenon and the early diagnosis of systemic sclerosis. However, this non-invasive examination may also be valuable in children and adolescents with rheumatic diseases. Based on the scarce data available, this review focuses on capillaroscopic findings in healthy children and adolescents as well as in children with juvenile systemic sclerosis, juvenile dermatomyositis, juvenile idiopathic arthritis, and Raynaud's phenomenon. In addition, it outlines the potential benefits and limitations of nailfold capillaroscopy for routine care in paediatric rheumatology.
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Embolic Strokes of Unknown Source and Cryptogenic Stroke: Implications in Clinical Practice
Nouh, Amre; Hussain, Mohammed; Mehta, Tapan; Yaghi, Shadi
2016-01-01
Up to a third of strokes are rendered cryptogenic or of undetermined etiology. This number is specifically higher in younger patients. At times, inadequate diagnostic workups, multiple causes, or an under-recognized etiology contributes to this statistic. Embolic stroke of undetermined source, a new clinical entity particularly refers to patients with embolic stroke for whom the etiology of embolism remains unidentified despite through investigations ruling out established cardiac and vascular sources. In this article, we review current classification and discuss important clinical considerations in these patients; highlighting cardiac arrhythmias and structural abnormalities, patent foramen ovale, paradoxical sources, and potentially under-recognized, vascular, inflammatory, autoimmune, and hematologic sources in relation to clinical practice. PMID:27047443
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Management of intraductal papillary mucinous neoplasms.
Crippa, Stefano; Fernández-del Castillo, Carlos
2008-04-01
Intraductal papillary mucinous neoplasms (IPMNs) of the pancreas are being diagnosed with increasing frequency, probably due to the widespread use of cross-sectional imaging. The natural history of these tumors is still largely unknown. Several studies have shown topographical as well as biological differences between main duct and branch duct IPMNs. In the past few years, diagnostic work-up and, in particular, management of these tumors have evolved significantly. Data support the need for resection of main duct IPMNs and the possibility of nonoperative management in selected cases of branch duct tumors. In this systematic review, we analyze the most recent publications related to IPMNs, with particular emphasis on problems related to managing this challenging disease.
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[The role of ultrasonography in the investigation of male infertility].
Fejes, Zsuzsanna; Pásztor, Norbert; Karczagi, Lilla; Brzózka, Ádám; Király, István; Morvay, Zita; Palkó, András
2018-05-01
Unintended childlessness affects approximately 9-15% of couples in the reproductive age. It is known that a remarkable proportion of infertility is caused by the disorders of the male reproductive functions. Diagnostic imaging methods and especially ultrasonography play a crucial role in the infertility work-up, the ultrasound examination has become the method of choice for imaging in diseases affecting the testis. With the development of high resolution transducers and technology using colour Doppler, pulsed Doppler, share wave elastography and strain elastography, it is now possible to make accurate diagnoses. However, the place of the new imaging methods in the algorithm of infertility check-up should be clearly defined. Orv Hetil. 2018; 159(21): 815-822.
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van Rijswijk, Joukje; van Welie, Nienke; Dreyer, Kim; van Hooff, Machiel H A; de Bruin, Jan Peter; Verhoeve, Harold R; Mol, Femke; Kleiman-Broeze, Kimiko A; Traas, Maaike A F; Muijsers, Guido J J M; Manger, Arentje P; Gianotten, Judith; de Koning, Cornelia H; Koning, Aafke M H; Bayram, Neriman; van der Ham, David P; Vrouenraets, Francisca P J M; Kalafusova, Michaela; van de Laar, Bob I G; Kaijser, Jeroen; van Oostwaard, Miriam F; Meijer, Wouter J; Broekmans, Frank J M; Valkenburg, Olivier; van der Voet, Lucy F; van Disseldorp, Jeroen; Lambers, Marieke J; Peters, Henrike E; Lier, Marit C I; Lambalk, Cornelis B; van Wely, Madelon; Bossuyt, Patrick M M; Stoker, Jaap; van der Veen, Fulco; Mol, Ben W J; Mijatovic, Velja
2018-05-09
Tubal pathology is a causative factor in 20% of subfertile couples. Traditionally, tubal testing during fertility work-up is performed by hysterosalpingography (HSG). Hysterosalpingo-foam sonography (HyFoSy) is a new technique that is thought to have comparable accuracy as HSG, while it is less expensive and more patient friendly. HyFoSy would be an acceptable alternative for HSG, provided it has similar effectiveness in terms of patient outcomes. We aim to compare the effectiveness and costs of management guided by HyFoSy or by HSG. Consenting women will undergo tubal testing by both HyFoSy and HSG in a randomized order during fertility work-up. The study group will consist of 1163 subfertile women between 18 and 41 years old who are scheduled for tubal patency testing during their fertility work-up. Women with anovulatory cycles not responding to ovulation induction, endometriosis, severe male subfertility or a known contrast (iodine) allergy will be excluded. We anticipate that 7 % (N = 82) of the participants will have discordant test results for HyFoSy and HSG. These participants will be randomly allocated to either a management strategy based on HyFoSy or a management strategy based on HSG, resulting in either a diagnostic laparoscopy with chromopertubation or a strategy that assumes tubal patency (intrauterine insemination or expectant management). The primary outcome is ongoing pregnancy leading to live birth within 12 months after randomization. Secondary outcomes are patient pain scores, time to pregnancy, clinical pregnancy, miscarriage rate, multiple pregnancy rate, preterm birth rate and number of additional treatments. Costs will be estimated by counting resource use and calculating unit prices. This trial will compare the effectiveness and costs of HyFoSy versus HSG in assessing tubal patency in subfertile women. Dutch Trial Register (NTR 4746, http://www.trialregister.nl ). Date of registration: 19 August 2014.
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Overutilization of Health Care Resources for Breast Pain.
Kushwaha, Anne C; Shin, Kyungmin; Kalambo, Megan; Legha, Ravinder; Gerlach, Karen E; Kapoor, Megha Madhukar; Yang, Wei T
2018-05-24
The objective of this study is to analyze the incidence of women with breast pain who present to an imaging center and assess the imaging findings, outcomes, and workup costs at breast imaging centers affiliated with one institution. Demographic characteristics of and imaging findings for female patients presenting with breast pain at three community breast imaging centers between January 1, 2014, and December 31, 2014, were reviewed. Patients who were pregnant, were lactating, had a history of breast cancer, or presented with palpable nipple or skin findings were excluded. A total of 799 patients met the study criteria. Pain was diffuse in 30%, was focal in 30%, and was not localized in 40%. Of the 799 patients with breast pain, 790 (99%) presented for a diagnostic evaluation; 759 (95%) of these evaluated patients had negative findings. A benign sonographic correlate was detected in the area of pain in 5% of patients (39/799). One patient had a single cancer detected in the contralateral asymptomatic breast. When correlations between breast pain and the presence of cancer in the study patients were compared with the concurrent cancer detection rate in the screening population (5.5 cases per 1000 examinations performed), breast pain was not found to be a sign of breast cancer (p = 0.027). Patients younger than 40 years (316/799) underwent a total of 454 workup studies for breast pain; all findings were benign, and the cost of these studies was $87,322. Patients 40 years or older (483/799) underwent 745 workup studies, for a cost of $152,732. Breast pain represents an area of overutilization of health care resources. For female patients who present with pure breast pain, breast imaging centers should consider the following imaging protocols and education for referring physicians: an annual screening mammogram should be recommended for women 40 years or older, and reassurance without imaging should be offered to patients younger than 40 years.
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Matsumoto, Alvin M.
2017-01-01
Abstract Context: Middle-aged and older men (≥50 years), especially those who are obese and suffer from comorbidities, not uncommonly present with clinical features consistent with androgen deficiency and modestly reduced testosterone levels. Commonly, such men do not demonstrate anatomical hypothalamic–pituitary–testicular axis pathology but have functional hypogonadism that is potentially reversible. Evidence Acquisition: Literature review from 1970 to October 2016. Evidence Synthesis: Although definitive randomized controlled trials are lacking, evidence suggests that in such men, lifestyle measures to achieve weight loss and optimization of comorbidities, including discontinuation of offending medications, lead to clinical improvement and a modest increase in testosterone. Also, androgen deficiency–like symptoms and end-organ deficits respond to targeted treatments (such as phosphodiesterase-5 inhibitors for erectile dysfunction) without evidence that hypogonadal men are refractory. Unfortunately, lifestyle interventions remain difficult and may be insufficient even if successful. Testosterone therapy should be considered primarily for men who have significant clinical features of androgen deficiency and unequivocally low testosterone levels. Testosterone should be initiated either concomitantly with a trial of lifestyle measures, or after such a trial fails, after a tailored diagnostic work-up, exclusion of contraindications, and appropriate counseling. Conclusions: There is modest evidence that functional hypogonadism responds to lifestyle measures and optimization of comorbidities. If achievable, these interventions may have demonstrable health benefits beyond the potential for increasing testosterone levels. Therefore, treatment of underlying causes of functional hypogonadism and of symptoms should be used either as an initial or adjunctive approach to testosterone therapy. PMID:28359097
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Yudkowsky, Rachel; Park, Yoon Soo; Hyderi, Abbas; Bordage, Georges
2015-11-01
To determine the psychometric characteristics of diagnostic justification scores based on the patient note format of the United States Medical Licensing Examination Step 2 Clinical Skills exam, which requires students to document history and physical findings, differential diagnoses, diagnostic justification, and plan for immediate workup. End-of-third-year medical students at one institution wrote notes for five standardized patient cases in May 2013 (n = 180) and 2014 (n = 177). Each case was scored using a four-point rubric to rate each of the four note components. Descriptive statistics and item analyses were computed and a generalizability study done. Across cases, 10% to 48% provided no diagnostic justification or had several missing or incorrect links between history and physical findings and diagnoses. The average intercase correlation for justification scores ranged from 0.06 to 0.16; internal consistency reliability of justification scores (coefficient alpha across cases) was 0.38. Overall, justification scores had the highest mean item discrimination across cases. The generalizability study showed that person-case interaction (12%) and task-case interaction (13%) had the largest variance components, indicating substantial case specificity. The diagnostic justification task provides unique information about student achievement and curricular gaps. Students struggled to correctly justify their diagnoses; performance was highly case specific. Diagnostic justification was the most discriminating element of the patient note and had the greatest variability in student performance across cases. The curriculum should provide a wide range of clinical cases and emphasize recognition and interpretation of clinically discriminating findings to promote the development of clinical reasoning skills.
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Schoemakers, Rik J; Schnabel, Ronny; Oudhuis, Guy J; Linssen, Catharina F M; van Mook, Walther N K A; Verbon, Annelies; Bergmans, Dennis C J J
2014-12-01
The clinical picture of ventilator-associated pneumonia (VAP) can be mimicked by other infectious and non-infectious diseases. The aim of this study was to determine the alternative diagnoses and to develop a diagnostic flow chart for patients suspected of having VAP not meeting the diagnostic broncho-alveolar lavage (BAL) criteria. Adult intensive care patients with a clinical suspicion of VAP and negative BAL results were included. The clinical suspicion of VAP was based on the combination of clinical, radiological, and microbiological criteria. BAL was considered positive if cell differentiation revealed ≥ 2% cells with intracellular organisms and/or quantitative culture results of ≥ 10(4) cfu/ml. The most likely alternative diagnosis of fever and pulmonary densities was retrospectively determined by two authors independently. In all, 110 of 207 patients with suspected VAP did not meet the diagnostic BAL criteria and required further diagnostic evaluation. In 67 patients an alternative diagnosis for fever could be found. In 51 patients an alternative diagnosis of both fever and pulmonary densities could be established. In almost 40% of patients no alternative diagnosis could be provided. Non-bacterial pneumonia was diagnosed in 10 patients with Herpes simplex virus 1 (HSV-1) as the most common pathogen. In eight patients non-infectious pneumonitis was diagnosed. Due to the wide range of alternative diagnoses and applied tests the diagnostic work-up proved to be necessarily individualized and guided by repeated clinical assessment. The most frequently found alternative diagnoses were viral pneumonia and non-infectious pneumonitis.
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Giljaca, Vanja; Nadarevic, Tin; Poropat, Goran; Nadarevic, Vesna Stefanac; Stimac, Davor
2017-03-01
To determine the diagnostic accuracy of abdominal ultrasound (US) for the diagnosis of acute appendicitis (AA), in terms of sensitivity, specificity and post-test probabilities for positive and negative result. A systematic search of MEDLINE, Embase, The Cochrane library and Science Citation Index Expanded from January 1994 to October 2014 was performed. Two authors independently evaluated studies for inclusion, extracted data and performed analyses. The reference standard for evaluation of final diagnosis was pathohistological report on tissue obtained at appendectomy. Summary sensitivity, specificity and post-test probability of AA after positive and negative result of US with corresponding 95% confidence intervals (CI) were calculated. Out of 3306 references identified through electronic searches, 17 reports met the inclusion criteria, with 2841 included participants. The summary sensitivity and specificity of US for diagnosis of AA were 69% (95% CI 59-78%) and 81% (95% CI 73-88%), respectively. At the median pretest probability of AA of 76.4%, the post-test probability for a positive and negative result of US was 92% (95% CI 88-95%) and 55% (95% CI 46-63%), respectively. Abdominal ultrasound does not seem to have a role in the diagnostic pathway for diagnosis of AA in suspected patients. The summary sensitivity and specificity of US do not exceed that of physical examination. Patients that require additional diagnostic workup should be referred to more sensitive and specific diagnostic procedures, such as computed tomography.
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Goyal, Abhishek; Gupta, Dheeraj; Agarwal, Ritesh; Bal, Amanjit; Nijhawan, Raje; Aggarwal, Ashutosh N
2014-07-01
The exact position of routine bronchoscopic sampling techniques in diagnostic workup of sarcoidosis is often debated. Herein, we ascertain the role of transbronchial needle aspiration (TBNA), endobronchial ultrasound-guided TBNA (EBUS-TBNA), transbronchial lung biopsy (TBLB), and endobronchial biopsy (EBB) in diagnosis of sarcoidosis. Consecutive patients with suspected sarcoidosis who underwent fiberoptic bronchoscopy were studied. TBLB, EBB, TBNA, or EBUS-TBNA was performed as indicated in a standardized manner. A diagnosis of sarcoidosis was established based on the finding of non-necrotizing granulomas or on clinical grounds at 6-month follow-up. Individual and cumulative yield of various procedures and their correlation with clinicoradiologic parameters was analyzed. Of the 164 patients studied, 151 were finally diagnosed as sarcoidosis. Granulomas were demonstrated in 127 (84.2%) patients. Diagnostic yield of TBLB, EBB, TBNA, and EBUS-TBNA was 68.7%, 49.6%, 22.43%, and 57.1%, respectively. Cumulative yields of various procedures were: EBB+TBLB 81.4%; TBLB+TBNA 73.7%; TBNA+EBB 62.9%; TBLB+EBB+TBNA 86.9%; and TBLB+EBB+EBUS-TBNA 86.4%. In those with visible mucosal abnormalities, TBLB+EBB conferred the highest diagnostic yield (92.8%). Clinical findings or radiologic stage had no impact on diagnostic yield. TBLB is an important tool in bronchoscopic diagnosis of sarcoidosis. If endobronchial abnormalities are seen during bronchoscopy, TBLB with EBB gives the best results otherwise TBLB combined with conventional TBNA and EBB or EBUS-TBNA are required to maximize the diagnostic yield.
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Causes of recurrent pneumonia in children in a general hospital.
Hoving, M F Paulien; Brand, Paul L P
2013-03-01
Because the few previous studies on underlying causes of recurrent pneumonia in children have come from tertiary care referral centres where selection bias may be important, the aim of this study was to examine underlying causes of recurrent pneumonia in children in a general hospital. We performed a retrospective chart review in a general hospital of 62 children with recurrent pneumonia over a 7.5 years period. In 19 patients (30.6%), no cause was identified, commonly because favourable natural history obviated the need for a full and invasive diagnostic work-up. Other underlying causes included recurrent aspiration in 16 patients (25.7%), lung disease (airway stenosis, bronchiectasis, middle lobe syndrome or tracheooesophageal fistula) in 10 patients (16.1%) and immune deficiency in 10 patients (16.1%). In contrast to previous studies, asthma was never diagnosed as an underlying cause, but diagnostic confusion between asthma (or recurrent upper respiratory tract infections) and recurrent pneumonia was common. The cause of recurrent pneumonia in children remains elusive in almost a third of patients, partly because the favourable natural history consistent with immune system maturation eliminates the need for further diagnostic procedures. Asthma is more likely a differential diagnostic consideration than an underlying cause of recurrent pneumonia in children. A standardised diagnostic guideline is needed to improve knowledge on causes of recurrent pneumonia in children. © 2013 The Authors. Journal of Paediatrics and Child Health © 2013 Paediatrics and Child Health Division (Royal Australasian College of Physicians).
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Gomes, E R; Brockow, K; Kuyucu, S; Saretta, F; Mori, F; Blanca-Lopez, N; Ott, H; Atanaskovic-Markovic, M; Kidon, M; Caubet, J-C; Terreehorst, I
2016-02-01
When questioned, about 10% of the parents report suspected hypersensitivity to at least one drug in their children. However, only a few of these reactions can be confirmed as allergic after a diagnostic workup. There is still a lack of knowledge on drug hypersensitivity (DH) epidemiology, clinical spectrum, and appropriate diagnostic methods particularly in children. Meanwhile, the tools used for DH management in adults are applied also for children. Whereas this appears generally acceptable, some aspects of DH and management differ with age. Most reactions in children are still attributed to betalactams. Some manifestations, such as nonsteroidal anti-inflammatory drug-associated angioedema and serum sickness-like reactions, are more frequent among young patients as compared to adults. Risk factors such as viral infections are particularly frequent in children, making the diagnosis challenging. The practicability and validity of skin test and other diagnostic procedures need further assessment in children. This study presents an up-to-date review on epidemiology, clinical spectrum, diagnostic tools, and current management of DH in children. A new general algorithm for the study of these reactions in children is proposed. Data are presented focusing on reported differences between pediatric and adult patients, also identifying unmet needs to be addressed in further research. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
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Dyspnoea, thoracic pain and fever in a young caucasian female: A case report.
Fois, Alessandro Giuseppe; Trisolini, Rocco; Ginesu, Giorgio Carlo; Zinellu, Elisabetta; Negri, Silvia; Cancellieri, Alessandra; Garau, Alessandra; Pirina, Pietro
2018-05-31
The diagnostic approach to patients with mediastinal pathology is not always simple and an improper diagnostic work-up can lead to significant diagnosis delay. We report on the case of a young woman who was admitted to the Emergency Department complaining of thoracic pain, dyspnoea, fever and productive cough. The physical examination showed a painful swelling over the sternum's upper left margin, which had become evident 4 months earlier. A Computer Tomography showed the presence of a retrosternal oval lesion (5.5 x 4 cm) infiltrating the thoracic wall and showed the presence of discretely enlarged mediastinal lymph nodes in several mediastinal stations. The Multidisciplinary Team decided to perform an ultrasound-guided biopsy of the retrosternal mass that showed an inflammatory pattern, whereas microbiology tests proved negative. The lack of improvement with medical therapy (non steroideal anti-inflammatories and antibiotics) and the clinical suspicion of malignancy led us to perform a surgical biopsy of the mass that finally proved to be diagnostic for Hodgkin's lymphoma. Mediastinal masses with an aggressive behavior, should always be considered to be potentially malignant. Surgical biopsy, sometimes, can be the only way to correctly diagnose the pathological process, especially in the case of Hodgkin's lymphoma in which few diagnostic cells (Reed-Sternberg cells) are generally embedded in an abundant inflammatory background tissue. Copyright © 2018 The Authors. Published by Elsevier Ltd.. All rights reserved.
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Aminopenicillin-associated exanthem: lymphocyte transformation testing revisited.
Trautmann, A; Seitz, C S; Stoevesandt, J; Kerstan, A
2014-12-01
The lymphocyte transformation test (LTT) has been promoted as in-vitro test for diagnosis of drug hypersensitivity. For determination of statistical LTT sensitivity, series of patients with clinically uniform reactions followed by complete drug hypersensitivity work-up are mandatory. Assessment of LTT specificity requires control patients who tolerated exposure to the drug studied. To prospectively determine the diagnostic value of the LTT in a clinically and diagnostically well-defined series of patients. Patients with exanthematous skin eruptions after ampicillin (AMP) intake were included in this study. After exclusion or confirmation of delayed-onset allergic AMP hypersensitivity by skin and provocation testing, two independent LTTs were performed: one standard LTT and a modified LTT with additional anti-CD3/anti-CD28 monoclonal antibody stimulation. By testing, delayed-onset allergic AMP hypersensitivity was diagnosed in 11 patients and definitely ruled out in 26. The standard LTT reached a diagnostic sensitivity of 54.5% while the modified LTT yielded 72.7%. However, the methodical test modification resulted in a decline of specificity from 92.3% (standard LTT) to 76.9%. In cases of AMP-associated exanthems, the diagnostic value of the LTT compared with routine allergy testing is limited. When evaluating such exanthems, provocation testing remains the gold standard. Delayed reading of intradermal skin tests remains most useful to avoid positive provocation reactions. © 2014 John Wiley & Sons Ltd.
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San-Juan, R; Manuel, O; Hirsch, H H; Fernández-Ruiz, M; López-Medrano, F; Comoli, P; Caillard, S; Grossi, P; Aguado, J M
2015-06-01
There is limited clinical evidence on the utility of the monitoring of Epstein-Barr virus (EBV) DNAemia in the pre-emptive management of post-transplant lymphoproliferative disease (PTLD) in solid organ transplant (SOT) recipients. We investigated current preventive measures against EBV-related PTLD through a web-based questionnaire sent to 669 SOT programmes in 35 European countries. This study was performed on behalf of the ESGICH study group from the European Society of Clinical Microbiology and Infectious Diseases. A total of 71 SOT programmes from 15 European countries participated in the study. EBV serostatus of the recipient is routinely obtained in 69/71 centres (97%) and 64 (90%) have access to EBV DNAemia assays. EBV monitoring is routinely used in 85.9% of the programmes and 77.4% reported performing pre-emptive treatment for patients with significant EBV DNAemia levels. Pre-emptive treatment for EBV DNAemia included reduction of immunosuppression in 50.9%, switch to mammalian target of rapamycin inhibitors in 30.9%, and use of rituximab in 14.5% of programmes. Imaging by whole-body 18-fluoro-deoxyglucose positron emission tomography (FDG-PET) is used in 60.9% of centres to rule out PTLD and complemented computer tomography is used in 50%. In 10.9% of centres, FDG-PET is included in the first-line diagnostic workup in patients with high-risk EBV DNAemia. Despite the lack of definitive evidence, EBV load measurements are frequently used in Europe to guide diagnostic workup and pre-emptive reduction of immunosuppression. We need prospective and controlled studies to define the impact of EBV monitoring in reducing the risk of PTLD in SOT recipients. Copyright © 2015 European Society of Clinical Microbiology and Infectious Diseases. Published by Elsevier Ltd. All rights reserved.
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Does the CDC Definition of Fever Accurately Predict Inflammation and Infection in Persons With SCI?
Trbovich, Michelle; Li, Carol; Lee, Shuko
2016-01-01
Background: Pneumonia and septicemia have the greatest impact on reduced life expectancy in persons with spinal cord injury (SCI). Fever is often the first presenting symptom of infection or inflammation. Thermoregulatory dysfunction in persons with SCI may preclude a typical febrile response to infection or inflammation and thus delay diagnostic workup. Objective: To determine the core temperature of persons with SCI in the setting of infection or inflammation and the frequency with which it meets criteria for the CDC definition of fever (>100.4°F). Methods: Retrospective review of hospitalized SCI patients over 5 years with a diagnosis of infection or inflammation (DI), defined by serum leukocytosis. In this study, 458 persons with paraplegia (PP) and 483 persons with tetraplegia (TP) had 4,191 DI episodes. Aural temperatures (T au ) on the day of DI, 7 days prior, and 14 days afterwards were abstracted from medical records. Main outcome measures were average T au at DI, frequency of temperatures >100.4°F at DI, and average baseline temperatures before and after DI. Results: Average T au at DI was 98.2°F (±1.5) and 98.2°F (±1.4) in the TP and PP groups, respectively, with only 11.6% to 14% of DI resulting in T au >100.4°F. Baseline temperatures ranged from 97.9°F (±0.7) to 98.0°F (±0.8). Conclusion: SCI persons with leukocytosis infrequently mount a fever as defined by the CDC, and baseline temperatures were subnormal (<98.6°F). Thermoregulatory dysfunction likely accounts for these findings. T au >100.4°F is not a sensitive predictor of infection or inflammation in persons with SCI. Clinicians should be vigilant for alternative symptoms of infection and inflammation in these patients, so diagnostic workup is not delayed.
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Recurrent High-Flow Arterio-Venous Malformation of the Thyroid Gland.
Borchert, D H; Massmann, A; Kim, Y J; Bader, C A; Wolf, G; Eisele, R; Minko, P; Bücker, A; Glanemann, M
2015-09-01
Vascular malformations and hemangiomas of the thyroid gland are rare disorders. The first case of a patient with recurrent high-flow arterio-venous malformation of the right thyroid gland involving the right endolarynx is presented. In June 2013, a 42-year-old female patient presented to the surgical department with recurrent hoarseness and a soft, vibrating mass on the right side of her neck. In 1993, she underwent right subtotal hemithyroidectomy with embolization on the day before surgery for a high-flow arterio-venous malformation of the thyroid gland. Diagnostic work-up in 2013 demonstrated a complex recurrent high-flow arterio-venous malformation on the right side of her neck involving the endolarynx. Full function of the right vocal fold could not be ascertained. The lesion was embolized again and excised the following day. Intraoperative gross bleeding and scar tissue prevented visualization and monitoring of the recurrent laryngeal nerve. Gross bleeding was also noted on hemithyroidectomy after embolization in 1993. No therapy was needed for the endolaryngeal part of the lesion. Histology showed large arterio-venous malformations with thyroid tissue. She remains well without signs of recurrence 18 month later but with a definitive voice handicap. This is the first report of a recurrent high-flow arterio-venous malformation originally developing from the right thyroid gland involving the right endolarynx. Counseling, diagnostic, and therapeutic work-up of the patient was possible only with an interdisciplinary team. The endolaryngeal part of the hemangioma dried out after embolization and completion hemithyroidectomy. Her hoarseness has greatly improved but a definitive voice handicap remains. High-flow arterio-venous malformations of the thyroid gland are a rare disease, and recurrent lesions have not been reported. Interdisciplinary management of these patients is mandatory due to the complex nature of the underlying pathology. Recurrence might develop after long free intervals.
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Does the CDC Definition of Fever Accurately Predict Inflammation and Infection in Persons With SCI?
Li, Carol; Lee, Shuko
2016-01-01
Background: Pneumonia and septicemia have the greatest impact on reduced life expectancy in persons with spinal cord injury (SCI). Fever is often the first presenting symptom of infection or inflammation. Thermoregulatory dysfunction in persons with SCI may preclude a typical febrile response to infection or inflammation and thus delay diagnostic workup. Objective: To determine the core temperature of persons with SCI in the setting of infection or inflammation and the frequency with which it meets criteria for the CDC definition of fever (>100.4°F). Methods: Retrospective review of hospitalized SCI patients over 5 years with a diagnosis of infection or inflammation (DI), defined by serum leukocytosis. In this study, 458 persons with paraplegia (PP) and 483 persons with tetraplegia (TP) had 4,191 DI episodes. Aural temperatures (Tau) on the day of DI, 7 days prior, and 14 days afterwards were abstracted from medical records. Main outcome measures were average Tau at DI, frequency of temperatures >100.4°F at DI, and average baseline temperatures before and after DI. Results: Average Tau at DI was 98.2°F (±1.5) and 98.2°F (±1.4) in the TP and PP groups, respectively, with only 11.6% to 14% of DI resulting in Tau >100.4°F. Baseline temperatures ranged from 97.9°F (±0.7) to 98.0°F (±0.8). Conclusion: SCI persons with leukocytosis infrequently mount a fever as defined by the CDC, and baseline temperatures were subnormal (<98.6°F). Thermoregulatory dysfunction likely accounts for these findings. Tau >100.4°F is not a sensitive predictor of infection or inflammation in persons with SCI. Clinicians should be vigilant for alternative symptoms of infection and inflammation in these patients, so diagnostic workup is not delayed. PMID:29339867
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Case report: a rare cause of metabolic alkalosis
Gebara, Otávio C.E.; Callas, Silvia H.V.; Hoff, Ana O.; Hoff, Paulo M.; Galvão, P.C.A.
2011-01-01
A case of a 66-year-old white man with recent onset of oedema, hypertension, metabolic alkalosis and profound hypokalaemia is described. The initial laboratorial workup showed that urinary chloride concentration and potassium excretion were increased, suggesting a state of hyperaldosteronism. Nonetheless, renin activity was low and aldosterone levels were normal. The metabolic alkalosis seen in this case was due to a rare cause, the ectopic adrenocorticotropic hormone syndrome. A literature review in the subject is presented. PMID:25984146
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Heksch, Ryan A; Henry, Rohan K
2018-05-04
Hashimoto thyroiditis (HT) is uncommon in infancy, and myxedema coma (MC) is even less common. While prior reports have documented these entities separately, to our knowledge, MC in combination with HT has not been reported before in this age group. A 10-month-old female presented with ptosis, lethargy, dysphagia, and failure to thrive (FTT). She developed hypotension, bradycardia, hypothermia, and apnea requiring intubation. Initial thyroid-stimulating hormone was 422 μIU/mL, and free thyroxine was < 0.5 ng/dL, despite the presence of a normal thyroid newborn screen (NBS). Of note, sepsis workup was unremarkable. With the diagnosis of MC, treatment with intravenous levothyroxine was initiated, although after hydrocortisone administration to avert the possibility of an adrenal crisis, despite a random cortisol of 16.4 μg/dL. Based on positive thyroid antibodies suggesting HT, autoimmune workup later revealed positive acetylcholinesterase antibodies consistent with a diagnosis of ocular myasthenia gravis. MC may be a cause of altered mental status in infancy and may simultaneously be associated with FTT on presentation. With the presence of a normal thyroid NBS, autoimmunity should be entertained as the etiology of profound hypothyroidism, as positive thyroid antibodies may prompt an exploration for coexisting diseases which may explain other presenting features. © 2018 S. Karger AG, Basel.
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García-Osogobio, Sandra; Remes-Troche, José María; Takahashi, Takeshi; Barreto Camilo, Juan; Uscanga, Luis
2002-01-01
Lower gastrointestinal bleeding is usually self-limiting in about 80% of cases; however, surgical treatment may be required in selected cases. Preoperative precise identification of the bleeding source is crucial for a successful outcome. To determine the most frequent diagnoses, as well as short and long-term results in a series of patients who underwent a surgical procedure for lower gastrointestinal bleeding. Retrospective analysis of 39 patients operated upon for lower gastrointestinal bleeding from 1979 through 1997 in a referral center. Demographic data, history, physical examination, laboratory tests, resuscitative measures, preoperative work-up for identification of bleeding source, definitive cause of bleeding, surgical procedure, operative morbidity and mortality, as well as long-term status and recurrence of bleeding were recorded. There were 54% women and 46% men. Mean age was 56 years (range, 15-92). Most patients presented hematochezia (69%). Colonoscopy was the most used diagnostic procedure (69%). The bleeding source was located in 90% of patients. Diverticular disease was the most frequent cause of bleeding. A segmental bowel resection was the treatment in 97% of cases. Morbidity was 23% with 18% of mortality. Recurrence occurred in 9% of survivors. Morbidity and mortality were high. Patients who require a surgical operation should be carefully selected and evaluated with a complete work-up to determine the site and cause of bleeding.
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Wiehler, U; Schmidt, R; Skonetzki, S; Becker, M
2006-05-01
The long list of ophthalmologic findings and symptoms at a baseline examination of a patient with uveitis can have an impact on further laboratory workup and differential diagnosis. Based on publications and previous work, a decision tree was transformed into the expert system shell D3. A web-based Java Servlet was then programmed and published on our website (http://www.uveitiscenter.de at DiagnoseFinder). Ophthalmologic findings and symptoms of the patient can be checked with this online questionnaire, and recommendations for further laboratory tests and further care of the patient received. Retrospective analysis of 62 patients with characteristic features of secondary uveitis showed a good correlation between the actual diagnosis of the patient and the diagnosis found by the program. In 74% of cases, the correct diagnosis was found among other options. In 37%, only the correct diagnosis was found, while in 37% the correct diagnosis was found among other probable diagnoses. Not all forms of secondary uveitis were found easily by the software. This program is meant to be an easily accessible and simply employable help for the care of patients with a secondary form of uveitis. It is intended to be a support not only for residents in particular, but also for ophthalmologists in private practice who rarely treat patients with uveitis.
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Management of congenital bladder diverticulum in children: A report of seven cases.
Khemakhem, Rachid; Ghorbel, Sofiane; Jlidi, Said; Nouira, Faouzi; Louati, Héla; Douira, Wiem; Chennoufi, Faouzia; Bellagha, Ibtisem; Chaouachi, Béji
2013-01-01
The purpose of the study is to present the author's experience with congenital bladder diverticula in seven pediatric patients at a developing world tertiary care center. Records of seven patients diagnosed and treated as congenital bladder diverticulum, from January 1998 to December 2009 were retrospectively reviewed for age, sex, clinical symptoms, investigative work-up, operative notes, and postoperative follow-up. All patients were males. Age at presentation ranged from six months to six years (mean three years and six months). All were manifested postnatally by urinary tract infection in four cases, bladder retention in three cases and abdominal pain in two cases. Diagnosis was suggested by ultrasound and confirmed by voiding cystourethrography (VCUG) in all cases and urethrocystoscopy in three cases. Open surgical excision of diverticulum was done in all the patients associated with ureteral reimplantation in four patients with VCUG-documented high-grade vesicoureteral reflux (VUR). Average follow-up was four years; there is a resolution of symptoms and no diverticulum recurrence at the defined mean follow-up. Recurrent urinary tract infections and voiding dysfunction in pediatric population should always be evaluated for congenital bladder diverticulum. Investigations such as abdominal ultrasound, VCUG and nuclear renal scanning, form an important part of preoperative diagnostic work-up and postoperative follow up. Diverticulectomy with ureteral reimplantation in case of high-grade reflux, provides good results without recurrence.
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Frank, Marlies; Finsterer, Josef
2012-01-01
To determine the frequency of elevated creatine kinase (CK) levels among patients with diabetes mellitus and to determine how often elevated CK is attributable to primary myopathy. In this prospective study, we investigated how often CK, aspartate amino-transferase, alanine aminotransferase, and resting lactate were elevated among consecutive diabetic patients attending our clinic. Those with elevated CK values were offered a neurologic workup. Ninety-nine patients with diabetes mellitus, aged 19 to 87 years, were assessed between May 2008 and April 2010. Seven patients had type 1 diabetes and 92 patients had type 2 diabetes. CK, aspartate aminotransferase, alanine aminotransferase, and resting lactate were elevated in 19 of 99, 25 of 99, 22 of 99, and 24 of 98 patients, respectively. Eleven of 19 patients with increased CK were self-injecting insulin. Ten of 24 patients with elevated serum lactate took metformin. Seven of 19 patients with elevated CK consented to neurologic workup. Two of the 7 had elevated resting lactate. In all 7 patients, the findings from neurologic investigation were indicative of a metabolic defect and further diagnostic evaluation was recommended. In diabetic patients attending our clinic, elevated CK levels occur in one-fifth and lactacidemia occurs in one-quarter. Elevated CK levels are attributable to a primary metabolic myopathy in most cases. Elevated CK levels in the setting of diabetes mellitus require further neurologic evaluation.
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Arzamendi, Audrey E.; Shahlaie, Kiarash; Latchaw, Richard E.; Lechpammer, Mirna; Arzumanyan, Hasmik
2016-01-01
Objective To describe the work-up and treatment of rare ectopic acromegaly caused by a biopsy-proven somatotroph pituitary adenoma located within the bony intersphenoid septum of a patient with empty sella syndrome (ESS). Methods We report the presentation, clinical course, diagnostic work-up, and lesion localization and treatment challenges encountered in a 55-year-old patient, with a brief review of relevant literature. Results A 55-year-old African-American man presented with acromegaly and ESS. Attempts to definitively localize the causative tumor were unsuccessful, though petrosal sinus sampling supported central growth hormone production and imaging suggested bone-enclosed subsellar pituitary tissue. Endoscopic endonasal transphenoidal exploration was undertaken with resection of a somatotroph pituitary microadenoma, and subsequent clinical improvement and biochemical remission. Retrospective review revealed the patient's pituitary to have been located ectopically within a unique bony intersphenoid septum. Conclusion This report describes the first known case of an ectopic pituitary adenoma located within the midline bony intersphenoid septum, which we postulate to have resulted from anomalous embryological pituitary migration. Intra-intersphenoid septal tumors should be considered in cases of apparent central acromegaly with ESS or absence of tumor tissue within the paranasal sinuses or other peripheral locations. Indexing Acromegaly, ESS, pituitary adenoma, sphenoid sinus septum. PMID:27468406
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Stanisic, Veselin; Andjelkovic, Igor; Vlaovic, Darko; Babic, Igor; Kocev, Nikola; Nikolic, Bosko; Milicevic, Miroslav
2013-10-01
Predicting technical difficulties in laparoscopic cholecystectomy (LC) in a small regional hospital increases efficacy, cost-benefit and safety of the procedure. The aim of the study was to assess whether it is possible to accurately predict a difficult LC (DLC) in a small regional hospital based only on the routine available clinical work-up parameters (patient history, ultrasound examination and blood chemistry) and their combinations. A prospective, cohort, of 369 consecutive patients operated by the same surgeon was analyzed. Conversion rate was 10 (2.7%). DLC was registered in 55 (14.90%). Various data mining techniques were applied and assessed. Seven significant predictors of DLC were identified: i) shrunken (fibrotic) gallbladder (GB); ii) ultrasound (US) GB wall thickness >4 mm; iii) >5 attacks of pain lasting >5 hours; iv) WBC >10x109 g/L; v) pericholecystic fluid; vi) urine amylase >380 IU/L, and vii) BMI >30kg/m2. Bayesian network was selected as the best classifier with accuracy of 94.57, specificity 0.98, sensitivity 0.77, AUC 0.96 and F-measure 0.81. It is possible to predict a DLC with high accuracy using data mining techniques, based on routine preoperative clinical parameters and their combinations. Use of sophisticated diagnostic equipment is not necessary.
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MEDICAL PRACTICE IN CHILDREN PRESENTING FEVER WITH PETECHIAL RASH TO AN EMERGENCY DEPARTMENT.
Dumitrascu-Biris, Ioana; Chirita-Emandi, Adela; Lambert, Imelda; Marginean, Otilia; Sharif, Farhana
2016-01-01
The association of fever and petechiae in children is one of the most alarming findings for a paediatrician. To quickly distinguish between benign and life-threatening conditions is challenging in many cases. We aimed to evaluate the clinical practice of children presenting with fever and petechiae as initial symptoms. 41 patients (age 3 months-11 years) presenting with fever and petechiae were identified in an Emergency Paediatric Assessment Unit over a period of 9 months. General data, symptoms and signs were assessed for each patient. The work-up consisted in: complete blood count, inflammatory tests, coagulation tests, Monospot test, nasopharyngeal rapid tests, blood culture, and cerebrospinal fluid culture where appropriate. Most children were <5 years of age (70.7%). Female to male ratio was 1:2.4. The most common clinical diagnoses were: viral respiratory illness (48.8%, 20/41) and upper respiratory tract infection (17.1%, 7/41). Meningococcal disease was found in one case. CRP>6 mg/l was poorly correlated with serious illness. The following variables were strongly associated with serious illness: ill appearance, shivering, lethargy, back rigidity, ESR>50 mm/h and prolonged capillary refill time. 59% (24/41) of children were treated with antibiotics, however, at discharge 42%(10/24) of them, did not have a work-up suggestive for a bacterial illness. Screening for low prevalence but high morbidity conditions, as the meningococcal disease, with an extensive work-up is time and resource consuming and may lead to unmotivated antibiotic use. Larger studies are needed to change the emergency practice for management of fever and rash.
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Silverberg, Donald S; Schwartz, Doron; Schwartz, Idit; Ben Assa, Eyal
2013-10-03
Iron Deficiency (ID) is common in heart failure (HF), and is an independent contributor to mortality and morbidity. We examined whether patients with previously known HF who were recently hospitalized, had previous treatment for ID, were investigated for it at the time of hospitalization, and, if ID was found, were prescribed iron on discharge. We examined the records of 76 consecutive patients admitted to our hospital medical wards with a primary diagnosis of HF. Anemia (Hb<12 g/dl) was found in 42/76 patients (55.3%). In 55/76 patients (72.4%) there was no iron workup, in 6 (7.9%) an incomplete iron workup with serum iron, transferrin or ferritin lacking and in 15/76 (19.7%) a complete iron workup. If ID was defined as either a serum ferritin of <100 μg/l or a serum ferritin of 100-299 μg/l and a %Transferrin Saturation of <20% it was found in 12/15 (80%) of those with a complete workup; in 9 of 10 (90%) of the anemic patients and in 3 of 5 (60%) of those non-anemic patients. At discharge 11/15 (73.3%) of those with a complete iron workup were given iron, 10 orally and 1 IV. In those 6 with an incomplete workup 2 were started on oral iron (33.3%) and in those without any workup, 1 of 55 (1.8%) was given oral iron. ID is common in hospitalized HF patients but is usually not sought after by physicians at the time of admission. However if detected the physicians usually treated it. Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.
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Lam, Samuel H.F.; Grippo, Anthony; Kerwin, Chistopher; Konicki, P. John; Goodwine, Diana; Lambert, Michael J.
2014-01-01
Introduction Appendicitis is a common condition presenting to the emergency department (ED). Increasingly emergency physicians (EP) are using bedside ultrasound (BUS) as an adjunct diagnostic tool. Our objective is to investigate the test characteristics of BUS for the diagnosis of appendicitis and identify components of routine ED workup and BUS associated with the presence of appendicitis. Methods Patients four years of age and older presenting to the ED with suspected appendicitis were eligible for enrollment. After informed consent was obtained, BUS was performed on the subjects by trained EPs who had undergone a minimum of one-hour didactic training on the use of BUS to diagnose appendicitis. They then recorded elements of clinical history, physical examination, white blood cell count (WBC) with polymophonuclear percentage (PMN), and BUS findings on a data form. We ascertained subject outcomes by a combination of medical record review and telephone follow-up. Results A total of 125 subjects consented for the study, and 116 had adequate image data for final analysis. Prevalence of appendicitis was 40%. Mean age of the subjects was 20.2 years, and 51% were male. BUS was 100% sensitive (95% CI 87–100%) and 32% specific (95% CI 14–57%) for detection of appendicitis, with a positive predictive value of 72% (95% CI 56–84%), and a negative predictive value of 100% (95% CI 52–100%). Assuming all non-diagnostic studies were negative would yield a sensitivity of 72% and specificity of 81%. Subjects with appendicitis had a significantly higher occurrence of anorexia, nausea, vomiting, and a higher WBC and PMN count when compared to those without appendicitis. Their BUS studies were significantly more likely to result in visualization of the appendix, appendix diameter >6mm, appendix wall thickness >2mm, periappendiceal fluid, visualization of the appendix tip, and sonographic Mcburney’s sign (p<0.05). In subjects with diagnostic BUS studies, WBC, PMN, visualization of appendix, appendix diameter >6mm, appendix wall thickness >2mm, periappendiceal fluid were found to be predictors of appendicitis on logistic regression. Conclusion BUS is moderately useful for appendicitis diagnosis. We also identified several components in routine ED workup and BUS that are associated with appendicitis generating hypothesis for future studies. PMID:25493122
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Shah, Akshay; Rison, Richard A; Beydoun, Said R
2015-12-01
Chronic inflammatory demyelinating polyneuropathy (CIDP) is a progressive demyelinating neuropathy, which typically presents with proximal and distal neuropathic symptoms and is typically responsive to immunomodulatory therapies. Many variants have been subsequently described in the literature and have similarly shown to be responsive to immunotherapy. We present a case of a 43-year-old Middle Eastern/Arabic man presenting with symptoms of mixed sensorimotor neuropathy most evident at entrapment sites mimicking hereditary neuropathy with liability to pressure palsies. His electrodiagnostic study revealed features of acquired demyelinating neuropathy and a negative genetic workup. Alternative diagnosis of CIDP was considered in the context of symptomatic disease progression, negative genetic workup, and electrodiagnosis leading to initiation of immunotherapy with intravenous immunoglobulins. His neuropathy responded confirming our diagnosis of an inflammatory demyelinating polyneuropathy. We describe a previously unknown variant of CIDP with phenotypic characteristics of hereditary neuropathy with liability to pressure palsies and its potential for successful treatment with intravenous immunoglobulins. This case illustrates an unusual presentation of CIDP mimicking hereditary neuropathy with liability to pressure palsies.
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Workup and management of patients with frequent premature ventricular contractions.
Giles, Katie; Green, Martin S
2013-11-01
Premature ventricular contractions (PVCs) are a frequently encountered entity in clinical cardiology. They rarely affect prognosis or management. However, they might produce bothersome symptoms and, in select individuals with a high PVC burden, they might contribute to left ventricular (LV) dysfunction. Workup of patients with very frequent PVCs consists of a thorough history and physical examination to screen for underlying cardiac disease and potential triggers. Routine investigations include a standard 12-lead electrocardiogram, as well as an echocardiogram. A Holter monitor should be performed in those with severe symptoms, a history of syncope, or a malignant family history. Exercise stress testing has a role in evaluating for ischemia and in the assessment of patients with exertional symptoms. More advanced testing is not warranted if these initial investigations are reassuring. Referral to an arrhythmia specialist should be considered in patients with LV dysfunction whose PVC burden exceeds 15%. Frequent ventricular ectopy represents a rare, but reversible cause of LV dysfunction and these patients should be further evaluated for possible catheter ablation. Copyright © 2013 Canadian Cardiovascular Society. Published by Elsevier Inc. All rights reserved.
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[Elevated transaminases - what to do if everything was done?].
Lepper, P M; Dufour, J-F
2009-03-18
Transaminases, gamma-GT and alcalic phosphatase are classically termed as liver enzymes, however they can be found in almost every organ. Elevated levels of the transaminases ALAT (alanin-aminotransferase) and ASAT (aspartat-aminotransferase) are signs of disturbed permeability of the cells, in which these enzymes can be found. In contrast to ALAT, which is mainly liver-specific, the ASAT is found in other organs as well, e.g. heart and skeletal muscle. At a mild elevation of these enzymes a reevaluation is recommended, however if an elevation persists and is suspicious for a liver disease, a specific work up is necessary. In this manuscript, we discuss often overlooked problems and provide a diagnostic algorithm for the workup of elevated liver enzymes.
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Testicular calculus: A rare case.
Sen, Volkan; Bozkurt, Ozan; Demır, Omer; Tuna, Burcin; Yorukoglu, Kutsal; Esen, Adil
2015-01-01
Testicular calculus is an extremely rare case with unknown etiology and pathogenesis. To our knowledge, here we report the third case of testicular calculus. A 31-year-old man was admitted to our clinic with painful solid mass in left testis. After diagnostic work-up for a possible testicular tumour, he underwent inguinal orchiectomy and histopathologic examination showed a testicular calculus. Case hypothesis: Solid testicular lesions in young adults generally correspond to testicular cancer. Differential diagnosis should be done carefully. Future implications: In young adults with painful and solid testicular mass with hyperechogenic appearance on scrotal ultrasonography, testicular calculus must be kept in mind in differential diagnosis. Further reports on this topic may let us do more clear recommendations about the etiology and treatment of this rare disease.
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Intracerebral Bleeding and Massive Pericardial Effusion as Presenting Symptoms of Myxedema Crisis
Rimpau, C.; Nickel, C. H.; Baier, P.
2017-01-01
The endocrinological emergency of a fully blown myxedema crisis can present as a multicolored clinical picture. This can obscure the underlying pathology and easily lead to mistakes in clinical diagnosis, work-up, and treatment. We present a case of an unconscious 39-year-old patient with a medical history of weakness, lethargy, and findings of hyponatremia, intracerebral bleeding, and massive pericardial effusion. Finally, myxedema crisis was diagnosed as underlying cause. Replacement therapy of thyroid hormone and conservative management of the intracerebral bleeding resulted in patient's survival without significant neurological impairment. However, diagnostic pericardiocentesis resulted in life-threatening pericardial tamponade. It is of tremendous importance to diagnose myxoedema crisis early to avoid adverse health outcomes. PMID:28255471
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Idiopathic granulomatous mastitis: in search of a therapeutic paradigm.
Wilson, Jason P; Massoll, Nicole; Marshall, Julia; Foss, Robin M; Copeland, Edward M; Grobmyer, Stephen R
2007-08-01
Idiopathic granulomatous mastitis, also known as idiopathic granulomatous lobular mastitis, is a benign breast lesion that represents both a diagnostic and therapeutic dilemma. We report two cases of granulomatous mastitis recently evaluated and managed at our institution. To better understand this rare disease, we analyzed treatment outcomes in reported cases of granulomatous mastitis. One hundred sixteen cases were subsequently analyzed. Primary management strategies included observation (n = 9), steroids (n = 29), partial mastectomy (n = 75), and mastectomy (n = 3). Success rates with each treatment were observation, 56 per cent; steroids, 42 per cent; partial mastectomy, 79 per cent; and mastectomy, 100 per cent. Based on this analysis, we propose a clinically useful algorithm for both workup and management of these challenging cases.
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[Adrenal incidentaloma: a clinical problem related to imaging].
de Bruijne, E L E; Burgmans, J P J; Krestin, G P; Pols, H A P; van den Meiracker, A H; de Herder, W W
2005-08-13
Two female patients, 68 and 67 years of age, were referred for right abdominal pain and pyelonephritis, respectively. During the diagnostic work-up, an unsuspected adrenal mass was found in both patients. Hormonal evaluation and imaging showed a benign non-hyperactive functioning adenoma in one patient and a pheochromocytoma in the other. Both patients were successfully treated with endoscopic adrenalectomy. Wider application and improvement of abdominal imaging procedures have caused an increase of incidentally detected adrenal masses, posing a common clinical problem. Typically, a diagnosis can be made on the basis of the characteristic radiological image. The exact nature of the defect is often unclear and further evaluation is required to determine functionality and possible malignancy. An algorithm is presented for the management of adrenal incidentalomas.
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Epigenetic and genetic diagnosis of Silver-Russell syndrome.
Eggermann, Thomas; Spengler, Sabrina; Gogiel, Magdalena; Begemann, Matthias; Elbracht, Miriam
2012-06-01
Silver-Russell syndrome (SRS) is a congenital imprinting disorder characterized by intrauterine and postnatal growth restriction and further characteristic features. SRS is genetically heterogenous: 7-10% of patients carry a maternal uniparental disomy of chromosome 7; >38% show a hypomethylation in imprinting control region 1 in 11p15; and a further class of mutations are copy number variations affecting different chromosomes, but mainly 11p15 and 7. The diagnostic work-up should thus aim to detect these three molecular subtypes. Numerous techniques are currently applied in genetic SRS testing, but none of them covers all known (epi)mutations, and they should therefore be used synergistically. However, future next-generation sequencing approaches will allow a comprehensive analysis of all types of alterations in SRS.
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NEW DEVELOPMENTS IN THE DIAGNOSIS AND TREATMENT OF THYROID CANCER
Schneider, David F.; Chen, Herbert
2013-01-01
Thyroid cancer exists in several forms. Differentiated thyroid cancers include papillary and follicular histologies. These tumors exist along a spectrum of differentiation, and their incidence continues to climb. A number of advances in the diagnosis and treatment of differentiated thyroid cancers now exist. These include molecular diagnostics and more advanced strategies for risk stratification. Medullary cancer arises from the parafollicular cells and not the follicular cells. Therefore, diagnosis and treatment differs from differentiated thyroid tumors. Genetic testing and newer adjuvant therapies has changed the diagnosis and treatment of medullary thyroid cancer. This review will focus on the epidemiology, diagnosis, work-up, and treatment of both differentiated and medullary thyroid cancers, focusing specifically on newer developments in the field. PMID:23797834
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Role of cardiac MRI in nonischemic cardiomyopathies.
Anand, Senthil; Janardhanan, Rajesh
2016-01-01
Cardiac magnetic resonance (CMR) with its higher spatial resolution is considered the gold standard for evaluating ventricular mass, volumes, and ejection fraction. CMR can be used for accurate diagnosis of several conditions, especially cardiomyopathies. The purpose of this article is to review the utility of CMR in the diagnosis and management of nonischemic cardiomyopathies. We have reviewed both common and rare types of nonischemic cardiomyopathies in detail and elaborated on the specific CMR findings in each. We believe that CMR is an invaluable tool, not only in differentiating nonischemic from ischemic cardiomyopathy, but also in aiding the accurate diagnosis and management of the subtype of nonischemic cardiomyopathy. CMR should routinely be integrated in the diagnostic workup of various cardiomyopathies. Published by Elsevier B.V.
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Anemia in children: prevalence, causes, diagnostic work-up, and long-term consequences.
Allali, Slimane; Brousse, Valentine; Sacri, Anne-Sylvia; Chalumeau, Martin; de Montalembert, Mariane
2017-11-01
Anemia in children is a major public health problem throughout the world. It is often multifactorial, iron deficiency being the most frequent etiology. Consequences are diverse and largely under evaluated. Areas covered: This paper briefly reviews the main causes and focus on the potential consequences of acute and chronic anemia in children. Expert commentary: Anemia in children should never be trivialized. Even if iron deficiency is frequently involved, other potentially life-threatening causes are possible and should be looked for. The exact contribution of anemia to child mortality and morbidity is difficult to assess because of overlapping comorbidities. Chronic anemia may impair growth, cardiac function and cognitive development in infants but other consequences are rather poorly described and should be explored more thoroughly.
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Multiple cranial neuropathy: a common diagnostic problem.
Garg, R K; Karak, B
1999-10-01
Syndrome of multiple cranial palsies is a common clinical problem routinely encountered in neurological practice. Anatomical patterns of cranial nerves involvement help in localizing the lesion. Various infections, malignant neoplasms and autoimmune vasculitis are common disorders leading to various syndromes of multiple cranial nerve palsies. A large number of diffuse neurological disorders (e.g. Gullian-Barre syndrome, myopathies) may also present with syndrome of multiple cranial nerve palsies. Despite extensive biochemical and radiological work-up the accurate diagnosis may not be established. Few such patients represent "idiopathic" variety of multiple cranial nerve involvement and show good response to corticosteroids. Widespread and sequential involvements of cranial nerves frequently suggest possibility of malignant infiltration of meninges, however, confirmation of diagnosis may not be possible before autopsy.
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Pelotti, P; Ciminari, R; Bacci, G; Avella, M; Briccoli, A
1988-01-01
The value of stratigraphy and pulmonary CT in the initial work-up of osteosarcoma of the extremities is assessed with reference to 217 patients encountered in the Bone Tumour Centre of Rizzoli Orthopaedic Institute in May 1983-May 1986. Stratigraphy revealed lung metastases not identified by standard radiography in 4 patients (1.8%), while CT revealed metastases not identified by either standard X-rays or stratigraphy in a further 6 cases (2.7%). It is concluded that the increase in the percentage of cures (about 30%) reported in the last 10 years in osteosarcoma cases given adjuvant chemotherapy cannot be explained by any difference in initial selection due to the use of these techniques that were not adopted in the historical series.
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Extra osseous primary Ewing's sarcoma.
Ali, Syed Asad; Muhammad, Agha Taj; Soomro, Abdul Ghani; Siddiqui, Akmal Jamal
2010-01-01
The case of 20 years old boy with an extra osseous Ewing's sarcoma is described. He was initially diagnosed as a case of infiltrative malignant tumour of left suprarenal gland on the basis of preoperative workup but postoperative biopsy of surgically excised specimen confirmed Extra-osseous Ewing's Sarcoma (EES) suprarenal gland with no evidence of malignancy on skeletal scintiscan, bone marrow aspirate and histopathology Suprarenal location of primary EES is unknown and probably has not been reported in literature. We report a unique case of EES.
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The value of rapid on-site evaluation during EBUS-TBNA.
Cardoso, A V; Neves, I; Magalhães, A; Sucena, M; Barroca, H; Fernandes, G
2015-01-01
Rapid on-site evaluation (ROSE) has the potential to increase endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) accuracy in the diagnosis of mediastinal lesions and lung cancer staging. However, studies have reported controversial results. The purpose of our study was to evaluate the influence of ROSE on sample adequacy and diagnostic accuracy of EBUS-TBNA. Prospective observational study that enrolled 81 patients who underwent EBUS-TBNA for investigation of hilo-mediastinal lesions or lung cancer staging. The first 41 patients underwent EBUS-TBNA with ROSE (ROSE group) and the last 40 patients without ROSE (non-ROSE group). Sample adequacy and diagnostic accuracy of EBUS-TBNA in both groups were compared. Adequate samples were obtained in 93% of the patients in the ROSE group and 80% in non-ROSE group (p=0.10). The diagnostic accuracy of EBUS-TBNA was 91% in ROSE group and 83% in non-ROSE group (p=0.08). Analyzing the EBUS-TBNA purpose, in the subgroup of patients who underwent EBUS-TBNA for investigation of hilo-mediastinal lesions, these differences between ROSE and non-ROSE group were higher compared to lung cancer staging, 93% of patients with adequate samples in the ROSE group vs. 75% in the non-ROSE group (p=0.06) and 87% of diagnostic accuracy in ROSE group vs. 77% in non-ROSE group (p=0.10). Despite the lack of statistical significance, ROSE appears to be particularly useful in the diagnostic work-up of hilo-mediastinal lesions, increasing the diagnostic yield of EBUS-TBNA. Copyright © 2014 Sociedade Portuguesa de Pneumologia. Published by Elsevier España, S.L.U. All rights reserved.
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Bruchfeld, Judith; Aderaye, Getachew; Palme, Ingela Berggren; Bjorvatn, Bjarne; Britton, Sven; Feleke, Yewenhareg; Källenius, Gunilla; Lindquist, Lars
2002-01-01
In a setting with a high prevalence of HIV we studied (i) the prevalence of pulmonary tuberculosis (PTB) and HIV; (ii) clinical and epidemiological characteristics of PTB; and (iii) the usefulness of standard procedures for diagnosing PTB. Of 509 consecutive outpatients evaluated on clinical suspicion of PTB in Addis Ababa, 33.0% were culture-verified as having PTB. PTB patients, non-TB patients and controls were HIV-1-positive in 57.1%, 38.5% and 8.3% of cases, respectively. Predictors for culture-verified PTB were age < 25 y, male gender and the presence of HIV and fever, whereas profound weight loss indicated HIV infection. Diagnosis of PTB based on clinical symptoms, sputum microscopy for acid-fast bacilli and chest radiography was sensitive (86.7%) but unspecific (64.1%). In HIV-positive patients both sensitivity and specificity were significantly lower (p < 0.05). HIV-related pulmonary infections are often misinterpreted as smear-negative PTB. HIV screening is therefore warranted not only in cases of verified TB but also as part of the diagnostic work-up in patients with respiratory symptoms suggestive of PTB. Also, increased awareness of, and improved diagnostic tools for, HIV-related pulmonary infections other than PTB are required, together with algorithms for patients with suspected PTB.
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Incremental value of the CT coronary calcium score for the prediction of coronary artery disease
Genders, Tessa S. S.; Pugliese, Francesca; Mollet, Nico R.; Meijboom, W. Bob; Weustink, Annick C.; van Mieghem, Carlos A. G.; de Feyter, Pim J.
2010-01-01
Objectives: To validate published prediction models for the presence of obstructive coronary artery disease (CAD) in patients with new onset stable typical or atypical angina pectoris and to assess the incremental value of the CT coronary calcium score (CTCS). Methods: We searched the literature for clinical prediction rules for the diagnosis of obstructive CAD, defined as ≥50% stenosis in at least one vessel on conventional coronary angiography. Significant variables were re-analysed in our dataset of 254 patients with logistic regression. CTCS was subsequently included in the models. The area under the receiver operating characteristic curve (AUC) was calculated to assess diagnostic performance. Results: Re-analysing the variables used by Diamond & Forrester yielded an AUC of 0.798, which increased to 0.890 by adding CTCS. For Pryor, Morise 1994, Morise 1997 and Shaw the AUC increased from 0.838 to 0.901, 0.831 to 0.899, 0.840 to 0.898 and 0.833 to 0.899. CTCS significantly improved model performance in each model. Conclusions: Validation demonstrated good diagnostic performance across all models. CTCS improves the prediction of the presence of obstructive CAD, independent of clinical predictors, and should be considered in its diagnostic work-up. PMID:20559838
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Diagnostic guidelines for newborns who screen positive in newborn screening.
Kronn, David; Mofidi, Shideh; Braverman, Nancy; Harris, Katharine
2010-12-01
Recent expansion of the newborn screening panels has presented an interesting challenge to specialty care centers, especially the clinical genetics community. Some of the conditions in the core and secondary newborn screening panels have extremely variable clinical presentations; others are so rare that only a handful of newborns have been diagnosed with them to date (Region 4 Collaborative MS/MS project-http://region4genetics.org/msms_data_project/data_project_home.aspx). Definition of some disorders is problematic-does continued abnormality of the screening analyte constitute diagnosis or is further testing necessary? A work group of the New York Mid-Atlantic Consortium for Genetic and Newborn Screening Services (region 2), one of seven regional collaboratives funded by the Federal Health Resources and Services Administration and administered by the Maternal and Child Health Bureau (U22MC03956), has developed guidelines for the confirmation of diagnosis of the conditions in the newborn screening panels for use by the specialty care centers. The diagnostic guidelines are a work in progress and are being reviewed and revised regularly as our understanding of the newborn screened disorders improves. The aim is to make it a relevant guide for specialty care physicians and other healthcare professionals in the diagnostic workup of these patients.